Human Gene Module 1255 total genes

Database updated on October 21, 2025

Gene Symbol	Gene Name	Chromosome	Genetic Category	Gene Score	Syndromic	EAGLE Score	reports
ABAT	4-aminobutyrate aminotransferase	16	Rare Single Gene Mutation, Genetic Association	2		–	8
ABCA10	ATP-binding cassette, sub-family A (ABC1), member 10	17	Rare Single Gene Mutation	2		–	4
ABCA13	ATP binding cassette subfamily A member 13	7	Rare Single Gene Mutation, Functional	2		–	15
ABCA2	ATP binding cassette subfamily A member 2	9	Rare Single Gene Mutation	3		–	8
ABCA7	ATP-binding cassette, sub-family A (ABC1), member 7	19	Rare Single Gene Mutation	2		–	6
ABCE1	ATP binding cassette subfamily E member 1	4	Rare Single Gene Mutation	1		1.4	4
ABL2	ABL proto-oncogene 2, non-receptor tyrosine kinase	1	Rare Single Gene Mutation, Functional	3		–	10
ACAP2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	3	Rare Single Gene Mutation, Functional	2		–	5
ACE	angiotensin I converting enzyme	17	Rare Single Gene Mutation, Genetic Association	2		–	5
ACHE	Acetylcholinesterase (Yt blood group)	7	Rare Single Gene Mutation	2		–	7
ACTB	actin beta	7	Rare Single Gene Mutation, Syndromic	1	S	1	11
ACTL6B	actin like 6B	7	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	16
ACTN4	actinin alpha 4	19	Rare Single Gene Mutation	2		–	7
ACY1	aminoacylase 1	3	Rare Single Gene Mutation, Syndromic	–	S	–	13
ADA	adenosine deaminase	20	Rare Single Gene Mutation, Genetic Association	2		–	8
ADCY1	adenylate cyclase 1	7	Rare Single Gene Mutation	3		–	4
ADCY3	adenylate cyclase 3	2	Rare Single Gene Mutation	2		–	4
ADCY5	Adenylate cyclase 5	3	Rare Single Gene Mutation	2		–	13
ADGRB1	adhesion G protein-coupled receptor B1	8	Rare Single Gene Mutation	3		–	10
ADGRL1	adhesion G protein-coupled receptor L1	19	Rare Single Gene Mutation, Syndromic	3	S	–	5
ADK	adenosine kinase	10	Rare Single Gene Mutation	2		–	2
ADNP	Activity-dependent neuroprotector homeobox	20	Rare Single Gene Mutation, Syndromic, Functional	1	S	41.5	98
ADORA3	Adenosine A3 receptor	1	Rare Single Gene Mutation, Functional	2		–	4
ADSL	adenylosuccinate lyase	22	Rare Single Gene Mutation, Syndromic	1	S	0.35	9
ADSS2	adenylosuccinate synthase 2	1	Rare Single Gene Mutation	2		–	3
AFF2	AF4/FMR2 family, member 2	X	Rare Single Gene Mutation, Syndromic	1		8.7	24
AGAP1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	2	Rare Single Gene Mutation	2		–	10
AGAP2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	12	Rare Single Gene Mutation	2		3.25	7
AGAP5	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	10	Rare Single Gene Mutation	3		–	2
AGBL4	ATP/GTP binding protein-like 4	1	Rare Single Gene Mutation	2		–	5
AGMO	alkylglycerol monooxygenase	7	Rare Single Gene Mutation, Genetic Association	2		–	8
AGO1	argonaute 1, RISC catalytic component	1	Rare Single Gene Mutation	2		–	19
AGO2	argonaute RISC catalytic component 2	8	Rare Single Gene Mutation, Syndromic	2	S	–	4
AGO3	argonaute RISC catalytic component 3	1	Rare Single Gene Mutation	2		–	9
AGO4	argonaute RISC catalytic component 4	1	Rare Single Gene Mutation	2		–	5
AGTR2	angiotensin II receptor, type 2	X	Rare Single Gene Mutation	2		–	6
AHDC1	AT-hook DNA binding motif containing 1	1	Rare Single Gene Mutation, Syndromic	1	S	14.25	34
AHI1	Abelson helper integration site 1	6	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	–	23
AHNAK	AHNAKnucleoprotein	11	Rare Single Gene Mutation	2		–	7
AKAP9	A kinase (PRKA) anchor protein 9	7	Rare Single Gene Mutation	2		–	10
ALDH1A3	aldehyde dehydrogenase 1 family member A3	15	Rare Single Gene Mutation, Syndromic	–	S	–	7
ALDH1L1	aldehyde dehydrogenase 1 family member L1	3	Rare Single Gene Mutation	3		–	7
ALDH5A1	aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	2.35	20
ALG6	ALG6, alpha-1,3-glucosyltransferase	1	Rare Single Gene Mutation, Syndromic	–	S	–	2
AMPD1	Adenosine monophosphate deaminase 1	1	Rare Single Gene Mutation, Genetic Association	2		–	5
AMT	Aminomethyltransferase	3	Rare Single Gene Mutation	2		–	3
ANK2	Ankyrin 2, neuronal	4	Rare Single Gene Mutation, Functional	1		10.8	42
ANK3	ankyrin 3	10	Rare Single Gene Mutation, Genetic Association, Functional	1		7.3	38
ANKRD11	ankyrin repeat domain 11	16	Rare Single Gene Mutation, Syndromic, Functional	1	S	22.6	86
ANKRD17	ankyrin repeat domain 17	4	Rare Single Gene Mutation, Syndromic	2	S	–	7
ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	12	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	8
ANP32A	acidic nuclear phosphoprotein 32 family member A	15	Rare Single Gene Mutation, Functional	1		3.1	5
ANXA1	Annexin A1	9	Rare Single Gene Mutation	2		–	2
AP1S2	adaptor related protein complex 1 sigma 2 subunit	X	Rare Single Gene Mutation, Syndromic	–	S	–	8
AP2M1	adaptor related protein complex 2 subunit mu 1	3	Rare Single Gene Mutation	2		–	10
AP2S1	adaptor related protein complex 2 subunit sigma 1	19	Rare Single Gene Mutation, Functional	1		0.2	5
APBA2	amyloid beta (A4) precursor protein-binding, family A, member 2	15	Rare Single Gene Mutation	2		–	10
APBB1	amyloid beta precursor protein binding family B member 1	11	Rare Single Gene Mutation, Functional	2		4.95	4
APH1A	APH1A gamma secretase subunit	1	Rare Single Gene Mutation	2		–	3
ADORA2A	adenosine A2a receptor	22	Genetic Association	2		–	7
ADRB2	adrenergic, beta-2-, receptor, surface	5	Genetic Association	2		–	10
AR	androgen receptor	X	Rare Single Gene Mutation, Genetic Association, Functional	2		–	10
ARF3	ADP ribosylation factor 3	12	Rare Single Gene Mutation, Syndromic	1		1.25	5
ARHGAP11B	Rho GTPase activating protein 11B	15	Rare Single Gene Mutation	2		–	4
ARHGAP30	Rho GTPase activating protein 30	1	Rare Single Gene Mutation	3		–	3
ARHGAP32	Rho GTPase activating protein 32	11	Rare Single Gene Mutation, Functional	2		–	11
ARHGAP5	Rho GTPase activating protein 5	14	Rare Single Gene Mutation	2		–	7
ARHGEF10	Rho guanine nucleotide exchange factor 10	8	Rare Single Gene Mutation, Genetic Association, Functional	2		–	8
ARHGEF2	Rho/Rac guanine nucleotide exchange factor 2	1	Rare Single Gene Mutation, Syndromic	3		–	8
ARHGEF9	Cdc42 guanine nucleotide exchange factor (GEF) 9	X	Rare Single Gene Mutation, Syndromic	1	S	14.2	20
ARID1A	AT-rich interaction domain 1A	1	Rare Single Gene Mutation, Syndromic, Functional	3	S	–	9
ARID1B	AT-rich interaction domain 1B	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	34.75	99
ARID2	AT-rich interaction domain 2	12	Rare Single Gene Mutation, Syndromic	2	S	–	21
ARNT2	aryl-hydrocarbon receptor nuclear translocator 2	15	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	15
ARX	aristaless related homeobox	X	Rare Single Gene Mutation, Syndromic	1	S	13.8	28
ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	2	Rare Single Gene Mutation	2		–	5
ASB11	ankyrin repeat and SOCS box containing 11	X	Rare Single Gene Mutation, Genetic Association, Functional	3		–	5
ASB14	ankyrin repeat and SOCS box containing 14	3	Rare Single Gene Mutation	2		–	5
ASH1L	Ash1 (absent, small, or homeotic)-like (Drosophila)	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		14.15	46
ASMT	acetylserotonin O-methyltransferase	X,Y	Rare Single Gene Mutation, Genetic Association	2		–	11
ASPM	abnormal spindle microtubule assembly	1	Rare Single Gene Mutation, Syndromic, Functional	2		–	15
ASTN2	astrotactin 2	9	Rare Single Gene Mutation, Genetic Association, Functional	2		2.5	25
ASXL3	Additional sex combs like 3 (Drosophila)	18	Rare Single Gene Mutation, Syndromic	1	S	28.85	62
ATP10A	Probable phospholipid-transporting ATPase VA	15	Rare Single Gene Mutation, Genetic Association, Functional	2		–	10
ATP1A1	ATPase Na+/K+ transporting subunit alpha 1	1	Rare Single Gene Mutation, Syndromic	2	S	–	10
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	27
ATP2B1	ATPase plasma membrane Ca2+ transporting 1	12	Rare Single Gene Mutation, Syndromic	3	S	–	3
ATP2B2	ATPase, Ca++ transporting, plasma membrane 2	3	Rare Single Gene Mutation, Genetic Association	2		–	18
ATP6V0A2	ATPase H+ transporting V0 subunit a2	12	Rare Single Gene Mutation	2		–	5
ATP9A	ATPase phospholipid transporting 9A	20	Rare Single Gene Mutation, Syndromic	3	S	–	6
ATRX	alpha thalassemia/mental retardation syndrome X-linked	X	Rare Single Gene Mutation, Syndromic, Functional	1		9.25	40
ATXN2	ataxin 2	12	Rare Single Gene Mutation	3		–	3
AUTS2	activator of transcription and developmental regulatorÂ AUTS2	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		35.5	79
AVPR1A	arginine vasopressin receptor 1A	12	Rare Single Gene Mutation, Genetic Association, Functional	2		–	26
AZGP1	alpha-2-glycoprotein 1, zinc-binding	7	Rare Single Gene Mutation	2		–	4
BACE1	beta-secretase 1	11	Rare Single Gene Mutation, Functional	3		–	4
BAIAP2L1	BAR/IMD domain containing adaptor protein 2 like 1	7	Rare Single Gene Mutation	3		–	6
BAZ2B	bromodomain adjacent to zinc finger domain 2B	2	Rare Single Gene Mutation	1		7.35	9
BBS4	Bardet-Biedl syndrome 4	15	Rare Single Gene Mutation, Syndromic	2		–	6
BCAS1	breast carcinoma amplified sequence 1	20	Rare Single Gene Mutation	2		–	5
BCKDK	Branched chain ketoacid dehydrogenase kinase	16	Rare Single Gene Mutation	1		3.1	10
BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	9.15	34
BCL11B	BCL11 transcription factor B	14	Rare Single Gene Mutation, Syndromic, Functional	3		–	11
BCORL1	BCL6 corepressor like 1	X	Rare Single Gene Mutation, Syndromic	–	S	–	10
BICRA	BRD4 interacting chromatin remodeling complex associated protein	19	Rare Single Gene Mutation, Syndromic	2	S	–	5
BIRC6	Baculoviral IAP repeat containing 6	2	Rare Single Gene Mutation	2		–	16
BRAF	v-raf murine sarcoma viral oncogene homolog B	7	Rare Single Gene Mutation, Syndromic	1	S	13.05	23
BRCA2	breast cancer 2, early onset	13	Rare Single Gene Mutation	2		–	10
BRD4	bromodomain containing 4	19	Rare Single Gene Mutation, Syndromic, Functional	2		–	13
BRINP3	BMP/retinoic acid inducible neural specific 3	1	Rare Single Gene Mutation, Genetic Association, Functional	3		–	4
BRSK2	BR serine/threonine kinase 2	11	Rare Single Gene Mutation, Syndromic, Functional	1	S	7.7	16
BRWD3	bromodomain and WD repeat domain containing 3	X	Rare Single Gene Mutation, Syndromic	–	S	–	10
BSN	bassoon presynaptic cytomatrix protein	3	Rare Single Gene Mutation, Genetic Association, Functional	3		–	12
BST1	bone marrow stromal cell antigen 1	4	Rare Single Gene Mutation, Genetic Association, Functional	2		–	6
BTAF1	RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)	10	Rare Single Gene Mutation	2		–	9
BTRC	beta-transducin repeat containing E3 ubiquitin protein ligase	10	Rare Single Gene Mutation	2		–	4
C12orf57	Chromosome 12 open reading frame 57	12	Rare Single Gene Mutation, Syndromic	–	S	–	17
C15orf62	chromosome 15 open reading frame 62	15	Rare Single Gene Mutation	2		–	3
C4B	complement component 4B	6	Rare Single Gene Mutation, Genetic Association, Functional	2		–	6
CA6	carbonic anhydrase VI	1	Rare Single Gene Mutation	2		–	7
CACNA1A	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	50
ASB9	ankyrin repeat and SOCS box containing 9	X	Genetic Association	3		0.1	1
AVPR1B	arginine vasopressin receptor 1B	1	Genetic Association, Functional	2		–	9
BICDL1	BICD family like cargo adaptor 1	12	Genetic Association	2		–	2
CACNA1B	calcium voltage-gated channel subunit alpha1 B	9	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	14
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	67
CACNA1D	calcium channel, voltage-dependent, L type, alpha 1D	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		12.7	34
CACNA1E	calcium voltage-gated channel subunit alpha1 E	1	Rare Single Gene Mutation	1		7.5	25
CACNA1F	calcium channel, voltage-dependent, alpha 1F	X	Rare Single Gene Mutation, Genetic Association	2		–	11
CACNA1G	calcium channel, voltage-dependent, T type, alpha 1G subunit	17	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	31
CACNA1H	calcium channel, voltage-dependent, alpha 1H subunit	16	Rare Single Gene Mutation	2		–	37
CACNA1I	Calcium channel, voltage-dependent, T type, alpha 1I subunit	22	Rare Single Gene Mutation, Genetic Association	2		–	12
CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1	7	Rare Single Gene Mutation, Syndromic	2		–	10
CACNA2D3	Calcium channel, voltage-dependent, alpha 2/delta subunit 3	3	Rare Single Gene Mutation, Functional	1		3.75	17
CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	17	Rare Single Gene Mutation	3		–	3
CACNB2	Calcium channel, voltage-dependent, beta 2 subunit	10	Rare Single Gene Mutation, Genetic Association, Functional	2		–	12
CACNG2	calcium voltage-gated channel auxiliary subunit gamma 2	22	Rare Single Gene Mutation	2		–	6
CADM1	cell adhesion molecule 1	11	Rare Single Gene Mutation	2		–	10
CADM2	Cell adhesion molecule 2	3	Rare Single Gene Mutation, Genetic Association	2		–	7
CADPS	calcium dependent secretion activator	3	Rare Single Gene Mutation, Genetic Association	2		–	5
CADPS2	Ca2+-dependent activator protein for secretion 2	7	Rare Single Gene Mutation, Functional	2		–	13
CAMK2A	calcium/calmodulin dependent protein kinase II alpha	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	15
CAMK2B	calcium/calmodulin dependent protein kinase II beta	7	Rare Single Gene Mutation, Syndromic	–	S	–	14
CAMK2D	calcium/calmodulin dependent protein kinase II delta	4	Rare Single Gene Mutation, Syndromic	3	S	–	4
CAMK4	calcium/calmodulin dependent protein kinase IV	5	Rare Single Gene Mutation, Genetic Association	2		–	6
CAMTA2	calmodulin binding transcription activator 2	17	Rare Single Gene Mutation, Syndromic	1		2.1	3
CAPN12	Calpain 12	19	Rare Single Gene Mutation	2		–	8
CAPRIN1	Cell cycle associated protein 1	11	Rare Single Gene Mutation, Syndromic, Functional	1		5.5	7
CAPZA2	capping actin protein of muscle Z-line subunit alpha 2	7	Rare Single Gene Mutation	3		–	3
CARD11	caspase recruitment domain family member 11	7	Rare Single Gene Mutation	2		–	2
CASK	calcium/calmodulin dependent serine protein kinase	X	Rare Single Gene Mutation, Syndromic, Functional	1		–	31
CASKIN1	CASK interacting protein 1	16	Rare Single Gene Mutation, Functional	2		–	9
CASZ1	castor zinc finger 1	1	Rare Single Gene Mutation	1		9.55	10
CAT	catalase	11	Rare Single Gene Mutation, Functional	3		–	4
CBX1	chromobox 1	17	Rare Single Gene Mutation, Syndromic	3	S	–	3
CBX4	chromobox 4	17	Rare Single Gene Mutation	3		–	3
CC2D1A	Coiled-coil and C2 domain containing 1A	19	Rare Single Gene Mutation, Functional	2		–	21
CCDC88C	Coiled-coil domain containing 88C	14	Rare Single Gene Mutation	2		–	10
CCDC91	coiled-coil domain containing 91	12	Rare Single Gene Mutation	2		–	6
CCIN	calicin	9	Rare Single Gene Mutation	2		–	2
CCNG1	cyclin G1	5	Rare Single Gene Mutation	2		–	2
CCNK	cyclin K	14	Rare Single Gene Mutation, Syndromic	–	S	–	7
CCSER1	coiled-coil serine rich protein 1	4	Rare Single Gene Mutation	2		–	4
CCT4	Chaperonin containing TCP1, subunit 4 (delta)	2	Rare Single Gene Mutation	2		–	3
CD276	CD276molecule	15	Rare Single Gene Mutation	2		–	4
CD38	CD38 molecule	4	Rare Single Gene Mutation, Genetic Association, Functional	2		–	10
CDC42BPB	CDC42 binding protein kinase beta (DMPK-like)	14	Rare Single Gene Mutation, Syndromic	2		–	13
CDH10	cadherin 10, type 2 (T2-cadherin)	5	Rare Single Gene Mutation, Genetic Association	2		–	11
CDH11	cadherin 11	16	Rare Single Gene Mutation, Syndromic, Functional	2		–	9
CDH13	cadherin 13	16	Rare Single Gene Mutation	2		–	6
CDH2	cadherin 2	18	Rare Single Gene Mutation, Syndromic	3	S	–	8
CDH22	cadherin-like 22	20	Rare Single Gene Mutation, Genetic Association	2		–	7
CDH8	cadherin 8, type 2	16	Rare Single Gene Mutation	2		–	13
CDH9	cadherin 9, type 2 (T1-cadherin)	5	Rare Single Gene Mutation, Genetic Association	2		–	7
CDK13	cyclin dependent kinase 13	7	Rare Single Gene Mutation, Syndromic	–	S	–	26
CDK16	cyclin dependent kinase 16	X	Rare Single Gene Mutation	2		–	3
CDK19	cyclin dependent kinase 19	6	Rare Single Gene Mutation, Syndromic	3	S	–	7
CDK5RAP2	CDK5 regulatory subunit associated protein 2	9	Rare Single Gene Mutation, Syndromic	3		–	14
CDK8	cyclin dependent kinase 8	13	Rare Single Gene Mutation, Syndromic	–	S	–	5
CDKL5	cyclin-dependent kinase-like 5	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	67
CDON	cell adhesion associated, oncogene regulated	11	Rare Single Gene Mutation	3		–	4
CECR2	CECR2, histone acetyl-lysine reader	22	Rare Single Gene Mutation	2		–	3
CELF2	CUGBP Elav-like family member 2	10	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	5
CELF4	CUGBP, Elav-like family member 4	18	Rare Single Gene Mutation, Functional	1		8.5	16
CELF6	CUGBP, Elav-like family member 6	15	Rare Single Gene Mutation, Genetic Association	2		–	5
CEP135	centrosomal protein 135	4	Rare Single Gene Mutation, Syndromic	2		–	9
CEP290	Centrosomal protein 290kDa	12	Rare Single Gene Mutation, Syndromic	2	S	–	15
CEP41	testis specific, 14	7	Rare Single Gene Mutation, Syndromic	2		–	8
CERT1	ceramide transporter 1	5	Rare Single Gene Mutation, Syndromic	3	S	–	8
CGNL1	Cingulin-like 1	15	Rare Single Gene Mutation	2		–	8
CHAMP1	chromosome alignment maintaining phosphoprotein 1	13	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	20
CHD1	chromodomain helicase DNA binding protein 1	5	Rare Single Gene Mutation, Syndromic	2	S	–	14
CHD2	Chromodomain helicase DNA binding protein 2	15	Rare Single Gene Mutation, Syndromic, Functional	1	S	25	92
CHD3	chromodomain helicase DNA binding protein 3	17	Rare Single Gene Mutation, Syndromic	1	S	–	26
CHD4	chromodomain helicase DNA binding protein 4	12	Rare Single Gene Mutation, Syndromic, Functional	3	S	–	8
CHD7	chromodomain helicase DNA binding protein 7	8	Rare Single Gene Mutation, Syndromic, Functional	1	S	8.1	54
CHD8	chromodomain helicase DNA binding protein 8	14	Rare Single Gene Mutation, Syndromic, Functional	1	S	97.65	132
CD99L2	CD99 molecule like 2	X	Genetic Association	2		–	1
CHD9	chromodomain helicase DNA binding protein 9	16	Rare Single Gene Mutation	3		–	8
CHKB	Choline kinase beta	22	Rare Single Gene Mutation, Syndromic	–	S	–	11
CHM	CHMRab escort protein	X	Rare Single Gene Mutation	3		–	8
CHMP1A	charged multivesicular body protein 1A	16	Rare Single Gene Mutation, Syndromic	2		–	5
CHRM3	cholinergic receptor muscarinic 3	1	Rare Single Gene Mutation, Genetic Association	2		–	7
CHRNA7	cholinergic receptor, nicotinic, alpha 7	15	Rare Single Gene Mutation	2		–	17
CHRNB3	cholinergic receptor nicotinic beta 3 subunit	8	Rare Single Gene Mutation	2		–	3
CHST2	carbohydrate sulfotransferase 2	3	Rare Single Gene Mutation	3		–	3
CIB2	Calcium and integrin binding family member 2	15	Rare Single Gene Mutation	2		–	2
CIC	capicua transcriptional repressor	19	Rare Single Gene Mutation, Syndromic, Functional	1		18.7	18
CLASP1	cytoplasmic linker associated protein 1	2	Rare Single Gene Mutation	2		–	4
CLCN4	chloride voltage-gated channel 4	X	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	17
CLIP2	CAP-Gly domain containing linker protein 2	7	Rare Single Gene Mutation, Genetic Association	3		–	2
CLN8	Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	8	Rare Single Gene Mutation, Syndromic	2		–	6
CLTC	clathrin heavy chain	17	Rare Single Gene Mutation	3		–	6
CLTCL1	clathrin, heavy chain-like 1	22	Rare Single Gene Mutation	2		–	8
CMIP	c-Maf inducing protein	16	Rare Single Gene Mutation, Genetic Association	2		–	7
CMPK2	cytidine/uridine monophosphate kinase 2	2	Rare Single Gene Mutation	2		–	4
CNGB3	cyclic nucleotide gated channel beta 3	8	Rare Single Gene Mutation	2		–	7
CNKSR2	connector enhancer of kinase suppressor of Ras 2	X	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	18
CNOT1	CCR4-NOT transcription complex subunit 1	16	Rare Single Gene Mutation, Syndromic	2	S	–	13
CNOT3	CCR4-NOT transcription complex subunit 3	19	Rare Single Gene Mutation, Syndromic	1	S	5.6	25
CNR1	cannabinoid receptor 1 (brain)	6	Rare Single Gene Mutation, Genetic Association	2		–	8
CNTN3	contactin 3	3	Rare Single Gene Mutation	2		–	6
CNTN4	contactin 4	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	31
CNTN5	Contactin 5	11	Rare Single Gene Mutation, Genetic Association	2		–	11
CNTN6	Contactin 6	3	Rare Single Gene Mutation, Genetic Association	2		13.8	18
CNTNAP2	contactin associated protein-like 2	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	–	107
CNTNAP3	contactin associated protein-like 3	9	Rare Single Gene Mutation, Functional	2		–	7
CNTNAP4	Contactin associated protein-like 4	16	Rare Single Gene Mutation, Functional	2		–	16
CNTNAP5	contactin associated protein-like 5	2	Rare Single Gene Mutation, Genetic Association	2		–	16
COL12A1	collagen type XII alpha 1 chain	6	Rare Single Gene Mutation	3		–	9
COL28A1	collagen type XXVIII alpha 1 chain	7	Rare Single Gene Mutation	2		–	5
CORO1A	coronin 1A	16	Rare Single Gene Mutation	1		0.7	3
CPEB4	cytoplasmic polyadenylation element binding protein 4	5	Rare Single Gene Mutation, Functional	2		–	4
CPSF7	cleavage and polyadenylation specific factor 7	11	Rare Single Gene Mutation	1		–	8
CPT2	carnitine palmitoyltransferase 2	1	Rare Single Gene Mutation	2		–	5
CPZ	carboxypeptidase Z	4	Rare Single Gene Mutation	2		–	5
CREBBP	CREB binding protein	16	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	31.35	44
CRMP1	collapsin response mediator protein 1	4	Rare Single Gene Mutation, Functional	3		–	9
CSDE1	cold shock domain containing E1	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	15.55	9
CSMD1	CUB and Sushi multiple domains 1	8	Rare Single Gene Mutation, Genetic Association, Functional	2		–	25
CSMD2	CUB and Sushi multiple domains 2	1	Rare Single Gene Mutation, Genetic Association	3		–	9
CSMD3	CUB and Sushi multiple domains 3	8	Rare Single Gene Mutation, Functional	3		–	11
CSNK1E	casein kinase 1 epsilon	22	Rare Single Gene Mutation, Functional	2		–	8
CSNK1G1	casein kinase 1 gamma 1	15	Rare Single Gene Mutation, Syndromic	3	S	–	3
CSNK2A1	casein kinase 2 alpha 1	20	Rare Single Gene Mutation, Syndromic, Functional	1	S	6.2	22
CSNK2B	casein kinase 2 beta	6	Rare Single Gene Mutation, Syndromic	–	S	–	13
CTCF	CCCTC-binding factor	16	Rare Single Gene Mutation, Syndromic, Functional	1	S	10.45	29
CTNNA2	catenin alpha 2	2	Rare Single Gene Mutation, Syndromic	–	S	–	5
CTNNA3	catenin (cadherin-associated protein), alpha 3	10	Rare Single Gene Mutation, Genetic Association	2		–	21
CTNNB1	catenin beta 1	3	Rare Single Gene Mutation, Syndromic	1		32.75	46
CTNND1	catenin delta 1	11	Rare Single Gene Mutation, Syndromic	2		–	3
CTNND2	Catenin (cadherin-associated protein), delta 2	5	Rare Single Gene Mutation, Syndromic, Functional	2		–	18
CTPS1	CTP synthase 1	1	Rare Single Gene Mutation	3		–	3
CTR9	CTR9homolog, Paf1/RNA polymerase II complex component	11	Rare Single Gene Mutation, Syndromic	3	S	–	9
CTTNBP2	cortactin binding protein 2	7	Rare Single Gene Mutation, Syndromic, Functional	2		24.8	16
CUL2	cullin 2	10	Rare Single Gene Mutation	3		–	5
CUL3	Cullin 3	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		18.4	42
CUL4B	cullin 4B	X	Rare Single Gene Mutation	3	S	–	5
CUL7	Cullin 7	6	Rare Single Gene Mutation	2		–	9
CUX1	cut like homeobox 1	7	Rare Single Gene Mutation, Functional	2		–	15
CUX2	cut like homeobox 2	12	Rare Single Gene Mutation, Syndromic	2	S	–	17
CX3CR1	Chemokine (C-X3-C motif) receptor 1	3	Rare Single Gene Mutation, Functional	2		–	4
CXXC5	CXXC finger protein 5	5	Rare Single Gene Mutation, Functional	3		–	5
CYFIP1	cytoplasmic FMR1 interacting protein 1	15	Rare Single Gene Mutation, Genetic Association, Functional	2		–	25
CYFIP2	cytoplasmic FMR1 interacting protein 2	5	Rare Single Gene Mutation, Functional	3		–	9
CYLC2	cylicin, basic protein of sperm head cytoskeleton 2	9	Rare Single Gene Mutation	2		–	4
CYP27A1	cytochrome P450 family 27 subfamily A member 1	2	Rare Single Gene Mutation, Syndromic	–	S	–	7
DAGLA	diacylglycerol lipase alpha	11	Rare Single Gene Mutation, Functional	2		–	7
DAPP1	Dual adaptor of phosphotyrosine and 3-phosphoinositides	4	Rare Single Gene Mutation	2		–	3
DCC	DCCnetrin 1 receptor	18	Rare Single Gene Mutation, Genetic Association	2		–	6
DDC	dopa decarboxylase	7	Rare Single Gene Mutation, Genetic Association	2		–	8
DDHD2	DDHD domain containing 2	8	Rare Single Gene Mutation, Genetic Association, Functional	2		–	7
DDX23	DEAD-box helicase 23	12	Rare Single Gene Mutation, Syndromic	–	S	–	4
DDX3X	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	78.6	64
CYP11B1	cytochrome P450, family 11, subfamily B, polypeptide 1	8	Syndromic	2		–	4
DDX53	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	X	Rare Single Gene Mutation	2		7.3	7
DEAF1	DEAF1 transcription factor	11	Rare Single Gene Mutation, Syndromic	1	S	30.9	39
DENND2B	DENN domain containing 2B	11	Rare Single Gene Mutation, Syndromic	3	S	–	6
DENR	density-regulated protein	12	Rare Single Gene Mutation, Functional	2		–	5
DEPDC5	DEP domain containing 5	22	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	27
DGKI	diacylglycerol kinase iota	7	Rare Single Gene Mutation, Genetic Association	3		–	5
DHCR7	7-dehydrocholesterol reductase	11	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	21
DHX30	DExH-box helicase 30	3	Rare Single Gene Mutation, Syndromic	–	S	–	13
DHX9	DExH-box helicase 9	1	Rare Single Gene Mutation, Syndromic	3	S	–	5
DIP2A	DIP2 disco-interacting protein 2 homolog A (Drosophila)	21	Rare Single Gene Mutation, Functional	1		18.2	14
DIP2C	disco interacting protein 2 homolog C	10	Rare Single Gene Mutation	2		–	8
DIPK2A	divergent protein kinase domain 2A	3	Rare Single Gene Mutation	2		–	3
DISC1	disrupted in schizophrenia 1	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		4.6	39
DIXDC1	DIX domain containing 1	11	Rare Single Gene Mutation, Functional	2		–	6
DLG1	discs large MAGUK scaffold protein 1	3	Rare Single Gene Mutation	2		–	6
DLG2	discs large MAGUK scaffold protein 2	11	Rare Single Gene Mutation, Functional	2		–	16
DLG4	discs large MAGUK scaffold protein 4	17	Rare Single Gene Mutation, Syndromic, Functional	1		2.45	26
DLGAP1	DLG associated protein 1	18	Rare Single Gene Mutation, Functional	2		–	13
DLGAP2	discs, large (Drosophila) homolog-associated protein 2	8	Rare Single Gene Mutation	2		2.8	20
DLGAP3	DLG associated protein 3	1	Rare Single Gene Mutation, Genetic Association, Functional	2		–	13
DLL1	delta like canonical Notch ligand 1	6	Rare Single Gene Mutation, Syndromic	2	S	–	6
DLX2	distal-less homeobox 2	2	Genetic Association	2		–	11
DLX3	distal-less homeobox 3	17	Rare Single Gene Mutation	2		–	4
DLX6	distal-less homeobox 6	7	Rare Single Gene Mutation	2		–	10
DMD	dystrophin (muscular dystrophy, Duchenne and Becker types)	X	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	40.95	55
DMPK	dystrophia myotonica-protein kinase	19	Rare Single Gene Mutation, Syndromic, Functional	1	S	3.75	13
DMWD	DM1 locus, WD repeat containing	19	Rare Single Gene Mutation	2		–	4
DMXL2	Dmx-like 2	15	Rare Single Gene Mutation	2		–	10
DNAH10	Dynein, axonemal, heavy chain 10	12	Rare Single Gene Mutation	2		–	11
DNAH17	dynein axonemal heavy chain 17	17	Rare Single Gene Mutation	2		–	10
DNAH3	dynein axonemal heavy chain 3	16	Rare Single Gene Mutation	2		–	10
DNAJC5	DnaJ heat shock protein family (Hsp40) member C5	20	Rare Single Gene Mutation, Functional	3		–	5
DNER	Delta/notch-like EGF repeat containing	2	Rare Single Gene Mutation, Genetic Association	2		–	3
DNM1	dynamin 1	9	Rare Single Gene Mutation	3		–	12
DNMT3A	DNA (cytosine-5-)-methyltransferase 3 alpha	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	15.9	37
DOCK1	Dedicator of cytokinesis 1	10	Rare Single Gene Mutation	2		–	4
DOCK4	Dedicator of cytokinesis 4	7	Rare Single Gene Mutation, Genetic Association, Functional	2		–	12
DOCK8	dedicator of cytokinesis 8	9	Rare Single Gene Mutation	2		–	12
DOLK	dolichol kinase	9	Rare Single Gene Mutation, Syndromic	–	S	–	5
DOT1L	DOT1 like histone lysine methyltransferase	19	Rare Single Gene Mutation, Syndromic	2	S	–	6
DPP10	Dipeptidyl-peptidase 10	2	Rare Single Gene Mutation	2		–	14
DPP3	dipeptidyl peptidase 3	11	Rare Single Gene Mutation	2		–	4
DPP4	Dipeptidyl-peptidase 4	2	Rare Single Gene Mutation, Genetic Association	2		–	6
DPP6	dipeptidyl-peptidase 6	7	Rare Single Gene Mutation, Genetic Association, Functional	2		–	29
DPYD	dihydropyrimidine dehydrogenase	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	17
DPYSL2	dihydropyrimidinase like 2	8	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		1	17
DPYSL3	dihydropyrimidinase like 3	5	Rare Single Gene Mutation	2		–	3
DRD2	Dopamine receptor D2	11	Rare Single Gene Mutation, Genetic Association	2		–	7
DRD3	dopamine receptor D3	3	Rare Single Gene Mutation, Genetic Association	2		–	9
DSCAM	Down syndrome cell adhesion molecule	21	Rare Single Gene Mutation, Genetic Association, Functional	1		13.5	22
DST	Dystonin	6	Rare Single Gene Mutation	2		–	12
DUSP15	dual specificity phosphatase 15	20	Rare Single Gene Mutation, Genetic Association	2		–	7
DVL3	Dishevelled segment polarity protein 3	3	Rare Single Gene Mutation, Functional	2		–	6
DYDC1	DPY30 domain containing 1	10	Rare Single Gene Mutation	2		–	2
DYDC2	DPY30 domain containing 2	10		2		–	1
DYNC1H1	dynein cytoplasmic 1 heavy chain 1	14	Rare Single Gene Mutation, Syndromic, Functional	1		13.45	41
DYRK1A	Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	21	Rare Single Gene Mutation, Syndromic, Functional	1	S	20.2	96
EBF3	early B-cell factor 3	10	Rare Single Gene Mutation, Syndromic, Functional	1	S	9.75	26
ECPAS	Ecm29 proteasome adaptor and scaffold	9	Rare Single Gene Mutation, Functional	2		–	5
EEF1A2	Eukaryotic translation elongation factor 1 alpha 2	20	Rare Single Gene Mutation, Syndromic	–	S	–	24
EFR3A	EFR3 homolog A (S. cerevisiae)	8	Rare Single Gene Mutation	2		–	9
EGR3	early growth response 3	8	Rare Single Gene Mutation	2		–	3
EHMT1	Euchromatic histone-lysine N-methyltransferase 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	13.5	46
DRD1	Dopamine receptor D1	5	Genetic Association, Functional	2		–	4
EIF3F	eukaryotic translation initiation factor 3 subunit F	11	Rare Single Gene Mutation	3		–	7
EIF3G	eukaryotic translation initiation factor 3 subunit G	19	Rare Single Gene Mutation	1		1.5	5
EIF4E	eukaryotic translation initiation factor 4E	4	Rare Single Gene Mutation, Genetic Association, Functional	2		3.6	15
EIF4G1	eukaryotic translation initiation factor 4 gamma 1	3	Rare Single Gene Mutation, Functional	3		–	4
EIF5A	eukaryotic translation initiation factor 5A	17	Rare Single Gene Mutation, Syndromic	3		–	4
ELAVL2	ELAV like neuron-specific RNA binding protein 2	9	Rare Single Gene Mutation, Genetic Association, Functional	2		–	7
ELAVL3	ELAV like neuron-specific RNA binding protein 3	19	Rare Single Gene Mutation	1		1	6
ELOVL2	ELOVL fatty acid elongase 2	6	Rare Single Gene Mutation, Genetic Association	2		–	2
ELP2	elongator acetyltransferase complex subunit 2	18	Rare Single Gene Mutation, Syndromic	2	S	–	7
ELP4	Elongator acetyltransferase complex subunit 4	11	Rare Single Gene Mutation, Genetic Association	2		–	7
EMSY	EMSY, BRCA2 interacting transcriptional repressor	11	Rare Single Gene Mutation, Functional	2		–	5
EN2	engrailed homolog 2	7	Rare Single Gene Mutation, Genetic Association, Functional	2		–	27
ENOX2	ecto-NOX disulfide-thiol exchanger 2	X	Rare Single Gene Mutation, Genetic Association	3		–	2
ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	6	Rare Single Gene Mutation	3		–	5
EP300	E1A binding protein p300	22	Rare Single Gene Mutation, Syndromic	1	S	23.6	31
EP400	E1A binding protein p400	12	Rare Single Gene Mutation, Functional	2		–	13
EPC2	Enhancer of polycomb homolog 2 (Drosophila)	2	Rare Single Gene Mutation	2		–	6
EPHA1	EPH receptor A1	7	Rare Single Gene Mutation	2		–	8
EPHB1	EPH receptor B1	3	Rare Single Gene Mutation	3		–	10
EPHB2	EPH receptor B2	1	Rare Single Gene Mutation, Functional	2		–	9
EPPK1	epiplakin 1	8	Rare Single Gene Mutation	2		–	11
ERBIN	erbb2 interacting protein	5	Rare Single Gene Mutation	2		–	9
ERG	ERG, ETS transcription factor	21	Genetic Association	2		–	1
ERMN	ermin	2	Rare Single Gene Mutation	2		–	1
ESR2	estrogen receptor 2 (ER beta)	14	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	9
ESRRB	estrogen-related receptor beta	14	Rare Single Gene Mutation, Genetic Association	2		–	9
ETFB	Electron-transfer-flavoprotein, beta polypeptide	19	Rare Single Gene Mutation	2		–	5
EXOC3	exocyst complex component 3	5	Rare Single Gene Mutation	2		–	3
EXOC5	exocyst complex component 5	14	Rare Single Gene Mutation	2		–	2
EXOC6	exocyst complex component 6	10	Rare Single Gene Mutation	2		–	3
EXOC6B	exocyst complex component 6B	2	Rare Single Gene Mutation	2		–	5
EXT1	Exostosin 1	8	Rare Single Gene Mutation, Genetic Association	2		–	7
FABP4	fatty acid binding protein 4	8	Rare Single Gene Mutation	3		–	3
FABP5	fatty acid binding protein 5 (psoriasis-associated)	8	Rare Single Gene Mutation, Functional	2		–	8
FAM47A	family with sequence similarity 47 member A	X	Rare Single Gene Mutation	2		0.45	2
FAM98C	family with sequence similarity 98 member C	19	Rare Single Gene Mutation	2		–	4
FAN1	FANCD2/FANCI-associated nuclease 1	15	Rare Single Gene Mutation, Genetic Association, Functional	2		–	5
FAT1	FAT atypical cadherin 1	4	Rare Single Gene Mutation, Functional	2		–	14
FBN1	Fibrillin 1	15	Rare Single Gene Mutation, Syndromic	2		–	18
FBRSL1	fibrosin like 1	12	Rare Single Gene Mutation, Syndromic	–	S	–	4
FBXL13	F-box and leucine rich repeat protein 13	7	Rare Single Gene Mutation	3		–	3
FBXO11	F-box protein 11	2	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	17
FBXO33	F-box protein 33	14	Rare Single Gene Mutation, Genetic Association	2		–	5
FBXO40	F-box protein 40	3	Rare Single Gene Mutation, Genetic Association	2		–	6
FCRL6	Fc receptor like 6	1	Rare Single Gene Mutation	2		–	4
FEZF2	FEZ family zinc finger 2	3	Rare Single Gene Mutation, Genetic Association, Functional	2		–	12
FGA	Fibrinogen alpha chain	4	Rare Single Gene Mutation, Genetic Association	2		–	5
FGF13	fibroblast growth factor 13	X	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	–	4
FGF14	fibroblast growth factor 14	13	Rare Single Gene Mutation	3		–	2
FGFR1	fibroblast growth factor receptor 1	8	Rare Single Gene Mutation, Genetic Association	2		–	5
FHIT	fragile histidine triad gene	3	Rare Single Gene Mutation, Genetic Association	2		–	12
FLNA	filamin A	X	Rare Single Gene Mutation, Syndromic, Functional	3		–	13
FMR1	fragile X messenger ribonucleoprotein 1	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	76
FOXG1	Forkhead box G1	14	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	5.7	66
FOXP1	forkhead box P1	3	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	60.45	89
FOXP2	forkhead box P2	7	Rare Single Gene Mutation, Genetic Association, Functional	1		–	60
FRG1	FSHD region gene 1	4	Rare Single Gene Mutation	2		–	3
FRK	fyn-related kinase	6	Rare Single Gene Mutation, Genetic Association	2		–	3
FRMD5	FERM domain containing 5	15	Rare Single Gene Mutation, Syndromic, Functional	3	S	–	5
FRMPD4	FERM and PDZ domain containing 4	X	Rare Single Gene Mutation, Syndromic	–	S	–	13
FRRS1L	ferric chelate reductase 1 like	9	Rare Single Gene Mutation	3		–	2
FRYL	FRY like transcription coactivator	4	Rare Single Gene Mutation, Syndromic	3	S	–	9
FXN	frataxin	9	Rare Single Gene Mutation	3		–	2
G3BP2	G3BP stress granule assembly factor 2	4	Rare Single Gene Mutation	2		–	7
GABBR2	gamma-aminobutyric acid type B receptor subunit 2	9	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	16
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	4	Rare Single Gene Mutation, Functional	3		–	7
GABRA3	Gamma-aminobutyric acid (GABA) A receptor, alpha 3	X	Rare Single Gene Mutation, Syndromic	–	S	–	3
GABRA4	gamma-aminobutyric acid (GABA) A receptor, alpha 4	4	Rare Single Gene Mutation, Genetic Association, Functional	2		–	10
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	5	Rare Single Gene Mutation	1		0.3	7
GABRB3	gamma-aminobutyric acid (GABA) A receptor, beta 3	15	Rare Single Gene Mutation, Genetic Association, Functional	1		–	52
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma 2	5	Rare Single Gene Mutation, Genetic Association	3		–	12
GABRG3	gamma-aminobutyric acid type A receptor gamma3 subunit	15	Rare Single Gene Mutation, Genetic Association	2		–	13
GALNT10	polypeptide N-acetylgalactosaminyltransferase 10	5	Rare Single Gene Mutation, Genetic Association	2		–	7
GALNT13	polypeptide N-acetylgalactosaminyltransferase 13	2	Rare Single Gene Mutation	2		–	6
GALNT14	polypeptide N-acetylgalactosaminyltransferase 14	2	Rare Single Gene Mutation, Genetic Association	2		–	7
GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	1	Rare Single Gene Mutation, Syndromic	–	S	–	6
GALNT8	polypeptide N-acetylgalactosaminyltransferase 8	12	Rare Single Gene Mutation	2		–	4
GAS2	Growth arrest-specific 2	11	Genetic Association	2		–	1
GATM	Glycine amidinotransferase (L-arginine:glycine amidinotransferase)	15	Syndromic	–	S	–	2
GBE1	1,4-alpha-glucan branching enzyme 1	3	Rare Single Gene Mutation	2		–	5
GDA	guanine deaminase	9	Rare Single Gene Mutation, Genetic Association	2		–	3
GFAP	glial fibrillary acidic protein	17	Rare Single Gene Mutation	1		0.3	2
GGNBP2	gametogenetin binding protein 2	17	Rare Single Gene Mutation	2		–	3
GIGYF1	GRB10 interacting GYF protein 1	7	Rare Single Gene Mutation	1		17.25	22
GIGYF2	GRB10 interacting GYF protein 2	2	Rare Single Gene Mutation	1		–	10
GLI3	GLI family zinc finger 3	7	Rare Single Gene Mutation, Syndromic	3		–	6
GLIS1	GLIS family zinc finger 1	1	Rare Single Gene Mutation, Genetic Association	2		–	3
GLO1	glyoxalase I	6	Rare Single Gene Mutation, Genetic Association	2		–	10
GLRA2	glycine receptor, alpha 2	X	Rare Single Gene Mutation, Functional	2		–	18
GNAI1	G protein subunit alpha i1	7	Rare Single Gene Mutation, Syndromic	1	S	2.1	7
GNAS	GNAS complex locus	20	Rare Single Gene Mutation	2		–	10
GNB1L	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	22	Rare Single Gene Mutation, Genetic Association	2		–	3
GNB2	G protein subunit beta 2	7	Rare Single Gene Mutation, Syndromic	–	S	–	7
GPC4	glypican 4	X	Rare Single Gene Mutation	2		–	3
GPC5	glypican 5	13	Rare Single Gene Mutation	3		–	9
GPC6	glypican 6	13	Rare Single Gene Mutation, Genetic Association	2		–	8
GPD2	glycerol-3-phosphate dehydrogenase 2	2	Rare Single Gene Mutation, Genetic Association	2		–	5
GPHN	Gephyrin	14	Rare Single Gene Mutation	2		–	11
GPR37	G protein-coupled receptor 37	7	Rare Single Gene Mutation	2		–	3
GPR85	G protein-coupled receptor 85	7	Rare Single Gene Mutation, Genetic Association	2		–	6
GPX1	glutathione peroxidase 1	3	Rare Single Gene Mutation, Genetic Association	2		–	6
GRB10	growth factor receptor bound protein 10	7	Rare Single Gene Mutation, Functional	3		–	12
GRIA1	glutamate ionotropic receptor AMPA type subunit 1	5	Rare Single Gene Mutation, Syndromic	2		–	15
GRIA2	glutamate ionotropic receptor AMPA type subunit 2	4	Rare Single Gene Mutation	1		12	16
GRIA3	glutamate ionotropic receptor AMPA type subunit 3	X	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	18
GRID1	Glutamate receptor, ionotropic, delta 1	10	Rare Single Gene Mutation, Genetic Association	2		–	7
GRID2	glutamate receptor, ionotropic, delta 2	4	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	11
GRID2IP	Grid2 interacting protein	7	Rare Single Gene Mutation	2		–	5
GRIK2	glutamate ionotropic receptor kainate type subunit 2	6	Rare Single Gene Mutation, Genetic Association	2		–	23
GRIK3	glutamate ionotropic receptor kainate type subunit 3	1	Rare Single Gene Mutation, Genetic Association	2		–	7
GRIK4	Glutamate receptor, ionotropic, kainate 4	11	Rare Single Gene Mutation, Functional	2		–	7
GRIK5	Glutamate receptor, ionotropic, kainate 5	19	Rare Single Gene Mutation	2		–	10
GRIN1	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	9	Rare Single Gene Mutation, Syndromic, Functional	1		–	34
GRIN2A	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	16	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		3.6	73
GRIN2B	glutamate receptor, inotropic, N-methyl D-apartate 2B	12	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		29.65	94
GRIP1	glutamate receptor interacting protein 1	12	Rare Single Gene Mutation	2		–	16
GRK4	G protein-coupled receptor kinase 4	4	Rare Single Gene Mutation, Functional	2		–	6
GRM5	glutamate metabotropic receptor 5	11	Rare Single Gene Mutation, Genetic Association, Functional	2		–	12
GRM7	Glutamate receptor, metabotropic 7	3	Rare Single Gene Mutation, Genetic Association, Functional	2		–	19
GTF2I	general transcription factor IIi	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	12
GUCY1A2	guanylate cyclase 1 soluble subunit alpha 2	11	Rare Single Gene Mutation, Genetic Association	2		–	3
H1-4	H1.4 linker histone, cluster member	6	Rare Single Gene Mutation, Syndromic	–	S	–	11
H2BC11	H2B clustered histone 11	6	Rare Single Gene Mutation	2		–	3
H3-3B	H3.3 histone B	17	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	3	S	–	7
H4C11	H4 clustered histone 11	6	Rare Single Gene Mutation, Syndromic	–	S	–	4
H4C3	H4 clustered histone 3	6	Rare Single Gene Mutation, Syndromic	–	S	–	3
H4C5	H4 clustered histone 5	6	Rare Single Gene Mutation, Syndromic	–	S	–	6
HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	6	Rare Single Gene Mutation, Syndromic	3		–	13
GSTM1	glutathione S-transferase M1	1	Genetic Association	2		–	3
HCFC1	host cell factor C1	X	Rare Single Gene Mutation, Syndromic	–	S	–	13
HCN1	Hyperpolarization activated cyclic nucleotide-gated potassium channel 1	5	Rare Single Gene Mutation, Genetic Association	3		–	15
HDAC4	histone deacetylase 4	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	–	19
HDAC8	histone deacetylase 8	X	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	3.7	13
HDLBP	high density lipoprotein binding protein	2	Rare Single Gene Mutation	1		1.25	6
HECTD1	HECT domain E3 ubiquitin protein ligase 1	14	Rare Single Gene Mutation	3		–	7
HECTD4	HECT domain E3 ubiquitin protein ligase 4	12	Rare Single Gene Mutation, Syndromic	1		–	12
HECW2	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	2	Rare Single Gene Mutation, Syndromic	2		–	25
HEPACAM	hepatic and glial cell adhesion molecule	11	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	13
HERC1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	15	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	14
HERC2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	15	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	13
HIVEP2	HIVEP zinc finger 2	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	17
HIVEP3	human immunodeficiency virus type I enhancer binding protein 3	1	Rare Single Gene Mutation, Genetic Association	2		–	13
HLA-A	major histocompatibility complex, class I, A	6	Genetic Association	2		–	10
HLA-B	Major histocompatibility complex, class I, B	6	Genetic Association	2		–	5
HLA-DPB1	major histocompatibility complex, class II, DP beta 1	6	Rare Single Gene Mutation, Genetic Association	2		–	2
HLA-DRB1	major histocompatibility complex, class II, DR beta 1	6	Genetic Association	2		–	11
HLA-G	major histocompatibility complex, class I, G	6	Genetic Association	2		–	4
HMGN1	high mobility group nucleosome binding domain 1	21	Genetic Association	2		–	1
HNRNPD	heterogeneous nuclear ribonucleoprotein D	4	Rare Single Gene Mutation, Syndromic	2	S	–	5
HNRNPF	heterogeneous nuclear ribonucleoprotein F	10	Rare Single Gene Mutation	2		–	4
HNRNPH2	heterogeneous nuclear ribonucleoprotein H2	X	Rare Single Gene Mutation, Syndromic	1		–	22
HNRNPK	heterogeneous nuclear ribonucleoprotein K	9	Rare Single Gene Mutation, Syndromic	2	S	–	13
HNRNPL	heterogeneous nuclear ribonucleoprotein L	19	Rare Single Gene Mutation	3		–	2
HNRNPR	heterogeneous nuclear ribonucleoprotein R	1	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	8
HNRNPU	heterogeneous nuclear ribonucleoprotein U	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	38.8	42
HNRNPUL2	heterogeneous nuclear ribonucleoprotein U like 2	11	Rare Single Gene Mutation, Syndromic	2	S	–	4
HOMER1	Homer homolog 1 (Drosophila)	5	Rare Single Gene Mutation, Functional	2		–	6
HOXA1	homeobox A1	7	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	–	16
HRAS	v-Ha-ras Harvey rat sarcoma viral oncogene homolog	11	Rare Single Gene Mutation, Syndromic, Genetic Association	1		–	12
HS3ST5	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	6	Rare Single Gene Mutation, Genetic Association	2		–	8
HSD11B1	hydroxysteroid (11-beta) dehydrogenase 1	1	Rare Single Gene Mutation, Syndromic	2		–	9
HTR1B	5-hydroxytryptamine (serotonin) receptor 1B	6	Rare Single Gene Mutation, Genetic Association	2		–	6
HTR2C	5-hydroxytryptamine receptor 2C	X	Genetic Association, Functional	3		0.1	2
HTR3A	5-hydroxytryptamine (serotonin) receptor 3A	11	Rare Single Gene Mutation, Genetic Association, Functional	2		–	9
HTR3C	5-hydroxytryptamine (serotonin) receptor 3, family member C	3	Rare Single Gene Mutation, Genetic Association	3		–	8
HUWE1	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	X	Rare Single Gene Mutation, Syndromic	–	S	–	30
HYDIN	HYDIN, axonemal central pair apparatus protein	16	Rare Single Gene Mutation, Genetic Association	2		–	5
ICA1	islet cell autoantigen 1	7	Rare Single Gene Mutation	2		–	10
IGF1	insulin like growth factor 1	12	Rare Single Gene Mutation, Functional	3		–	8
IKZF1	IKAROS family zinc finger 1	7	Rare Single Gene Mutation	3		–	7
IL1R2	interleukin 1 receptor, type II	2	Rare Single Gene Mutation	2		–	8
IL1RAPL1	interleukin 1 receptor accessory protein-like 1	X	Rare Single Gene Mutation	2		–	32
IL1RAPL2	interleukin 1 receptor accessory protein-like 2	X	Rare Single Gene Mutation, Genetic Association	2		–	3
ILF2	Interleukin enhancer binding factor 2	1	Rare Single Gene Mutation	2		–	6
IMMP2L	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	7	Rare Single Gene Mutation, Genetic Association, Functional	2		–	17
INPP1	inositol polyphosphate-1-phosphatase	2	Rare Single Gene Mutation, Genetic Association	2		–	5
INTS1	integrator complex subunit 1	7	Rare Single Gene Mutation, Syndromic	–	S	–	13
INTS6	Integrator complex subunit 6	13	Rare Single Gene Mutation	2		–	6
IQGAP3	IQ motif containing GTPase activating protein 3	1	Rare Single Gene Mutation	2		–	7
IQSEC2	IQ motif and Sec7 domain 2	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	60
IRF2BPL	Interferon regulatory factor 2 binding protein-like	14	Rare Single Gene Mutation, Syndromic	1	S	9	19
IRX5	iroquois homeobox 5	16	Rare Single Gene Mutation, Syndromic	3	S	–	3
ITGA8	integrin subunit alpha 8	10	Rare Single Gene Mutation	3		–	7
ITGB3	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	17	Rare Single Gene Mutation, Genetic Association, Functional	2		–	22
ITPR1	inositol 1,4,5-trisphosphate receptor type 1	3	Rare Single Gene Mutation	2		–	20
ITSN1	intersectin 1	21	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	11
JARID2	jumonji and AT-rich interaction domain containing 2	6	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	19
JMJD1C	jumonji domain containing 1C	10	Rare Single Gene Mutation	2		–	10
KANK1	KN motif and ankyrin repeat domains 1	9	Rare Single Gene Mutation	2		–	14
KANSL1	KAT8 regulatory NSL complex subunit 1	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	1.1	13
KAT2B	K(lysine) acetyltransferase 2B	3	Rare Single Gene Mutation, Functional	2		–	8
KAT6A	K(lysine) acetyltransferase 6A	8	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	36
KAT6B	lysine acetyltransferase 6B	10	Rare Single Gene Mutation, Syndromic, Functional	3		–	14
KATNAL1	katanin catalytic subunit A1 like 1	13	Rare Single Gene Mutation, Functional	2		–	4
KATNAL2	Katanin p60 subunit A-like 2	18	Rare Single Gene Mutation, Functional	1		4.1	19
KCNA2	potassium voltage-gated channel subfamily A member 2	1	Rare Single Gene Mutation	3		–	12
KCNA3	potassium voltage-gated channel subfamily A member 3	1	Rare Single Gene Mutation	3		–	2
KCNB1	potassium voltage-gated channel subfamily B member 1	20	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	33
KCNC1	potassium voltage-gated channel subfamily C member 1	11	Rare Single Gene Mutation, Functional	2		–	11
KCNC2	potassium voltage-gated channel subfamily C member 2	12	Rare Single Gene Mutation	3		–	15
KCND2	potassium voltage-gated channel subfamily D member 2	7	Rare Single Gene Mutation, Genetic Association	2		–	10
KCND3	potassium voltage-gated channel subfamily D member 3	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	15
KCNH1	potassium voltage-gated channel subfamily H member 1	1	Rare Single Gene Mutation	3	S	–	6
KCNH5	potassium voltage-gated channel subfamily H member 5	14	Rare Single Gene Mutation, Functional	3		–	6
KCNH7	potassium voltage-gated channel subfamily H member 7	2	Rare Single Gene Mutation, Genetic Association, Functional	3		–	11
KCNJ10	potassium voltage-gated channel subfamily J member 10	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	15
KCNJ15	potassium voltage-gated channel subfamily J member 15	21	Rare Single Gene Mutation	2		–	3
KCNK7	potassium two pore domain channel subfamily K member 7	11	Rare Single Gene Mutation	2		–	3
KCNMA1	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	10	Rare Single Gene Mutation, Syndromic	2		–	34
KCNN2	potassium calcium-activated channel subfamily N member 2	5	Rare Single Gene Mutation	3		–	5
KCNQ2	potassium voltage-gated channel subfamily Q member 2	20	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		–	69
KCNQ3	potassium voltage-gated channel subfamily Q member 3	8	Rare Single Gene Mutation, Genetic Association, Functional	1		11.1	22
KCNS3	potassium voltage-gated channel modifier subfamily S member 3	2	Rare Single Gene Mutation	2		–	6
KCTD13	Potassium channel tetramerisation domain containing 13	16	Rare Single Gene Mutation, Functional	2		–	9
KDM1A	lysine demethylase 1A	1	Rare Single Gene Mutation, Functional	3		–	5
KDM1B	lysine demethylase 1B	6	Rare Single Gene Mutation	2		–	3
KDM2A	lysine demethylase 2A	11	Rare Single Gene Mutation	3		–	10
KDM2B	lysine demethylase 2B	12	Rare Single Gene Mutation, Syndromic, Functional	1		–	13
KDM3A	lysine demethylase 3A	2	Rare Single Gene Mutation	3		–	4
KDM3B	lysine demethylase 3B	5	Rare Single Gene Mutation, Syndromic	1	S	1.5	6
KDM4B	lysine demethylase 4B	19	Rare Single Gene Mutation, Syndromic, Functional	2		–	6
KDM4C	lysine demethylase 4C	9	Rare Single Gene Mutation	2		–	4
KDM5A	lysine demethylase 5A	12	Rare Single Gene Mutation, Functional	2		–	5
KDM5B	Lysine (K)-specific demethylase 5B	1	Rare Single Gene Mutation, Syndromic, Functional	1		2.8	29
KDM5C	lysine demethylase 5C	X	Rare Single Gene Mutation, Syndromic, Functional	1		–	52
KDM6A	lysine demethylase 6A	X	Rare Single Gene Mutation, Syndromic	2		–	17
KDM6B	Lysine (K)-specific demethylase 6B	17	Rare Single Gene Mutation, Syndromic, Functional	1		13.75	28
KHDRBS2	KH domain containing, RNA binding, signal transduction associated 2	6	Rare Single Gene Mutation	2		–	4
KIAA0232	KIAA0232	4	Rare Single Gene Mutation	1		–	4
KIAA1586	KIAA1586	6	Rare Single Gene Mutation	2		–	6
KIF13B	Kinesin family member 13B	8	Rare Single Gene Mutation	2		–	7
KIF14	kinesin family member 14	1	Rare Single Gene Mutation, Syndromic	2		–	7
KIF1A	kinesin family member 1A	2	Rare Single Gene Mutation, Syndromic	2	S	–	18
KIF5C	Kinesin family member 5C	2	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	17
KIRREL3	Kin of IRRE like 3 (Drosophila)	11	Rare Single Gene Mutation	2		–	20
KIZ	kizuna centrosomal protein	20	Genetic Association, Functional	3		–	2
KLF16	Kruppel like factor 16	19	Rare Single Gene Mutation	2		–	1
KLF7	Kruppel like factor 7	2	Rare Single Gene Mutation, Functional	3		–	15
KLHL20	kelch like family member 20	1	Rare Single Gene Mutation, Syndromic, Functional	1		–	4
KMT2A	Lysine (K)-specific methyltransferase 2A	11	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	56
KMT2B	lysine methyltransferase 2B	19	Rare Single Gene Mutation, Syndromic	3		–	12
KMT2C	Lysine (K)-specific methyltransferase 2C	7	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	46
KMT2E	Lysine (K)-specific methyltransferase 2E	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	25
KMT5B	lysine methyltransferase 5B	11	Rare Single Gene Mutation, Syndromic, Functional	1		–	32
KNG1	kininogen 1	3	Rare Single Gene Mutation	3		–	2
KPTN	kaptin, actin binding protein	19	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	9
KRR1	KRR1, small subunit (SSU) processome component, homolog (yeast)	12	Rare Single Gene Mutation, Genetic Association	2		–	3
KRT26	keratin 26	17	Rare Single Gene Mutation	2		–	4
LAMA1	Laminin, alpha 1	18	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	16
LAMB1	laminin, beta 1	7	Rare Single Gene Mutation, Genetic Association	2		–	11
LARP1	La ribonucleoprotein 1, translational regulator	5	Rare Single Gene Mutation	3		–	4
LAS1L	LAS1 like ribosome biogenesis factor	X	Rare Single Gene Mutation, Syndromic	3		–	7
LDB1	LIM domain binding 1	10	Rare Single Gene Mutation	1		4	4
LDLR	low density lipoprotein receptor	19	Rare Single Gene Mutation	3		–	4
LEMD3	LEM domain containing 3	12	Rare Single Gene Mutation	2		–	4
LEO1	LEO1 homolog, Paf1/RNA polymerase II complex component	15	Rare Single Gene Mutation	2		–	5
LEP	Leptin	7	Rare Single Gene Mutation	2		–	1
LHX2	LIM homeobox 2	9	Rare Single Gene Mutation, Syndromic	2		–	5
LILRB2	leukocyte immunoglobulin like receptor B2	19	Rare Single Gene Mutation	2		–	4
LIN7B	lin-7 homolog B, crumbs cell polarity complex component	19	Rare Single Gene Mutation	2		–	3
LMTK3	lemur tyrosine kinase 3	19	Rare Single Gene Mutation, Functional	3		–	6
LMX1B	LIM homeobox transcription factor 1 beta	9	Rare Single Gene Mutation, Genetic Association	2		–	4
LNPK	lunapark, ER junction formation factor	2	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	5
LRBA	LPS-responsive vesicle trafficking, beach and anchor containing	4	Rare Single Gene Mutation	2		–	11
LRFN2	leucine rich repeat and fibronectin type III domain containing 2	6	Rare Single Gene Mutation, Genetic Association, Functional	2		–	7
LRFN5	leucine rich repeat and fibronectin type III domain containing 5	14	Rare Single Gene Mutation, Genetic Association, Functional	2		–	7
LRP1	LDL receptor related protein 1	12	Rare Single Gene Mutation	2		–	12
LRP2	LDL receptor related protein 2	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	21
LRRC1	leucine rich repeat containing 1	6	Rare Single Gene Mutation, Genetic Association	2		–	7
LRRC4	leucine rich repeat containing 4	7	Rare Single Gene Mutation, Functional	2		–	5
LRRC4C	leucine rich repeat containing 4C	11	Rare Single Gene Mutation	1		1.25	3
LZTR1	Leucine-zipper-like transcription regulator 1	22	Rare Single Gene Mutation, Syndromic	1		–	21
MACF1	microtubule actin crosslinking factor 1	1	Rare Single Gene Mutation, Syndromic, Functional	3	S	–	12
MACROD2	MACRO domain containing 2	20	Rare Single Gene Mutation, Genetic Association	2		–	25
MAGEC3	MAGE family member C3	X	Rare Single Gene Mutation	1		–	6
MAGEL2	MAGE-like 2	15	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	30
MAOA	monoamine oxidase A	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	21
MAOB	monoamine oxidase B	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	7
MAP1A	microtubule associated protein 1A	15	Rare Single Gene Mutation	1		–	4
MAP1B	microtubule associated protein 1B	5	Rare Single Gene Mutation, Syndromic, Functional	2		–	15
MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	19	Rare Single Gene Mutation	3		–	5
MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	2	Rare Single Gene Mutation, Syndromic	2		–	2
MAPK3	mitogen-activated protein kinase 3	16	Rare Single Gene Mutation, Functional	2		–	6
MAPK8IP1	mitogen-activated protein kinase 8 interacting protein 1	11	Rare Single Gene Mutation	3		–	4
MAPK8IP3	mitogen-activated protein kinase 8 interacting protein 3	16	Rare Single Gene Mutation, Syndromic	2	S	–	11
MAPT	microtubule associated protein tau	17	Rare Single Gene Mutation, Genetic Association, Functional	3		–	5
MARK1	microtubule affinity regulating kinase 1	1	Rare Single Gene Mutation, Genetic Association	2		–	12
MARK2	microtubule affinity regulating kinase 2	11	Rare Single Gene Mutation, Functional	2		20.05	9
MAST1	microtubule associated serine/threonine kinase 1	19	Rare Single Gene Mutation, Syndromic	3		–	5
MAST3	microtubule associated serine/threonine kinase 3	19	Rare Single Gene Mutation, Functional	3		–	9
MBD1	methyl-CpG binding domain protein 1	18	Rare Single Gene Mutation	2		–	9
MBD3	methyl-CpG binding domain protein 3	19	Rare Single Gene Mutation	2		–	4
MBD4	methyl-CpG binding domain protein 4	3	Rare Single Gene Mutation	2		–	7
MBD5	Methyl-CpG binding domain protein 5	2	Rare Single Gene Mutation, Syndromic, Functional	1	S	46.6	48
MBD6	Methyl-CpG binding domain protein 6	12	Rare Single Gene Mutation	2		–	3
MBOAT7	membrane bound O-acyltransferase domain containing 7	19	Rare Single Gene Mutation, Syndromic, Functional	1	S	5.25	24
MCM4	minichromosome maintenance complex component 4	8	Rare Single Gene Mutation	2		–	4
MCM6	minichromosome maintenance complex component 6	2	Rare Single Gene Mutation, Syndromic	2		–	4
MCPH1	microcephalin 1	8	Rare Single Gene Mutation	2		–	20
MDGA2	MAM domain containing glycosylphosphatidylinositol anchor 2	14	Rare Single Gene Mutation, Genetic Association	2		–	10
MECP2	Methyl CpG binding protein 2	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	106.65	150
MED12L	mediator complex subunit 12L	3	Rare Single Gene Mutation, Syndromic	2	S	–	8
MED13	mediator complex subunit 13	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	9.3	21
MED13L	Mediator complex subunit 13-like	12	Rare Single Gene Mutation, Syndromic, Functional	1	S	35	59
MED23	mediator complex subunit 23	6	Rare Single Gene Mutation, Functional	2		–	4
MEF2C	myocyte enhancer factor 2C	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	9.85	60
LZTS2	leucine zipper, putative tumor suppressor 2	10	Genetic Association	2		–	4
MAPT-AS1	MAPT antisense RNA 1	17	Genetic Association	2		–	1
MEGF10	multiple EGF like domains 10	5	Rare Single Gene Mutation, Genetic Association	2		–	8
MEGF11	multiple EGF like domains 11	15	Rare Single Gene Mutation, Functional	2		–	9
MEIS2	Meis homeobox 2	15	Rare Single Gene Mutation, Syndromic	1	S	7.5	14
MEMO1	mediator of cell motility 1	2	Rare Single Gene Mutation, Functional	2		–	3
MET	met proto-oncogene (hepatocyte growth factor receptor)	7	Rare Single Gene Mutation, Genetic Association, Functional	2		–	43
METTL14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	4	Rare Single Gene Mutation, Functional	3		–	8
METTL26	methyltransferase like 26	16	Rare Single Gene Mutation	2		–	2
MFRP	Membrane frizzled-related protein	11	Rare Single Gene Mutation	2		–	9
MIB1	Mindbomb E3 ubiquitin protein ligase 1	18	Rare Single Gene Mutation	2		3.6	10
MINK1	misshapen like kinase 1	17	Rare Single Gene Mutation	3		–	8
MIR137	microRNA 137	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	10
MKX	mohawk homeobox	10	Rare Single Gene Mutation	1		0.3	4
MLANA	melan-A	9	Rare Single Gene Mutation	2		–	4
MRTFB	myocardin related transcription factor B	16	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	12
MSANTD2	Myb/SANT DNA binding domain containing 2	11	Rare Single Gene Mutation	2		–	2
MSL2	MSL complex subunit 2	3	Rare Single Gene Mutation, Syndromic	3		–	7
MSL3	MSL complex subunit 3	X	Rare Single Gene Mutation, Syndromic	1	S	13.9	9
MSR1	macrophage scavenger receptor 1	8	Rare Single Gene Mutation	2		–	5
MSRA	methionine sulfoxide reductase A	8	Rare Single Gene Mutation, Genetic Association, Functional	3		–	13
MSX2	msh homeobox 2	5	Rare Single Gene Mutation, Syndromic	3	S	–	2
MTF1	metal-regulatory transcription factor 1	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	6
MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	25
MTOR	mechanistic target of rapamycin kinase	1	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	36
MTSS2	MTSS I-BAR domain containing 2	16	Rare Single Gene Mutation, Syndromic	–	S	–	7
MUC12	mucin 12, cell surface associated	7	Rare Single Gene Mutation	2		–	6
MUC4	mucin 4, cell surface associated	3	Rare Single Gene Mutation	2		–	10
MYCBP2	MYC binding protein 2	13	Rare Single Gene Mutation, Syndromic	1		–	11
MYH10	myosin heavy chain 10	17	Rare Single Gene Mutation	2		–	9
MYH4	Myosin, heavy chain 4, skeletal muscle	17	Rare Single Gene Mutation	2		–	7
MYH9	myosin heavy chain 9	22	Rare Single Gene Mutation	2		–	9
MYLK	myosin light chain kinase	3	Rare Single Gene Mutation	3		–	4
MYO16	myosin XVI	13	Rare Single Gene Mutation, Genetic Association	2		–	10
MYO1E	myosin IE	15	Rare Single Gene Mutation	2		–	6
MYO5A	myosin VA	15	Rare Single Gene Mutation, Genetic Association	2		–	8
MYO5C	myosin VC	15	Rare Single Gene Mutation	2		–	6
MYO7A	myosin VIIA	11	Rare Single Gene Mutation	3		–	5
MYO9B	Myosin IXB	19	Rare Single Gene Mutation, Genetic Association	2		–	8
MYOCD	myocardin	17	Rare Single Gene Mutation	3		–	3
MYT1L	Myelin transcription factor 1-like	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		20.35	46
NAA10	N-alpha-acetyltransferase 10, NatA catalytic subunit	X	Rare Single Gene Mutation, Syndromic	3	S	–	13
NAA15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	4	Rare Single Gene Mutation, Syndromic	1	S	31.7	32
NAALADL2	N-acetylated alpha-linked acidic dipeptidase-like 2	3	Rare Single Gene Mutation, Genetic Association	2		–	5
NACC1	nucleus accumbens associated 1	19	Rare Single Gene Mutation, Syndromic	1	S	–	12
NASP	nuclear autoantigenic sperm protein	1	Rare Single Gene Mutation	3		–	3
NAV2	neuron navigator 2	11	Rare Single Gene Mutation, Syndromic	2		–	14
NAV3	neuron navigator 3	12	Rare Single Gene Mutation	2		–	6
NBEA	neurobeachin	13	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	29
NCAPH2	non-SMC condensin II complex subunit H2	22	Rare Single Gene Mutation	3		–	1
NCKAP1	NCK-associated protein 1	2	Rare Single Gene Mutation, Syndromic	1		24.75	17
NCKAP5	NCK-associated protein 5	2	Rare Single Gene Mutation	2		–	4
NCOA1	nuclear receptor coactivator 1	2	Rare Single Gene Mutation	1		3	4
NCOR1	nuclear receptor corepressor 1	17	Rare Single Gene Mutation, Functional	2		–	13
NEDD4	NEDD4E3 ubiquitin protein ligase	15	Rare Single Gene Mutation, Functional	3		–	4
NEGR1	neuronal growth regulator 1	1	Rare Single Gene Mutation, Genetic Association, Functional	2		–	6
NEO1	Neogenin 1	15	Rare Single Gene Mutation	2		–	4
NEXMIF	neurite extension and migration factor	X	Rare Single Gene Mutation, Syndromic, Functional	1		–	41
NF1	neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	17	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	9.3	47
NFE2L3	nuclear factor, erythroid 2 like 3	7	Rare Single Gene Mutation	2		–	6
NFIA	nuclear factor I/A	1	Rare Single Gene Mutation, Syndromic	2		–	19
NFIB	nuclear factor I B	9	Rare Single Gene Mutation, Syndromic	2	S	–	8
NFIX	nuclear factor I/X (CCAAT-binding transcription factor)	19	Rare Single Gene Mutation, Syndromic	–	S	–	23
NINL	Ninein-like	20	Rare Single Gene Mutation	2		–	10
NIPA1	non imprinted in Prader-Willi/Angelman syndrome 1	15	Rare Single Gene Mutation	2		–	6
NIPA2	non imprinted in Prader-Willi/Angelman syndrome 2	15	Rare Single Gene Mutation	2		–	3
NIPBL	Nipped-B homolog (Drosophila)	5	Rare Single Gene Mutation, Syndromic	1	S	15.3	21
NLGN1	neuroligin 1	3	Rare Single Gene Mutation, Genetic Association, Functional	2		–	23
NLGN2	Neuroligin 2	17	Rare Single Gene Mutation, Functional	1		3	17
NLGN3	neuroligin 3	X	Rare Single Gene Mutation, Genetic Association, Functional	1		6.5	59
NLGN4X	neuroligin 4, X-linked	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		12	45
NLGN4Y	neuroligin 4, Y-linked	Y	Rare Single Gene Mutation, Genetic Association, Functional	2		–	6
NMT1	N-myristoyltransferase 1	17	Rare Single Gene Mutation	3		–	4
NOTCH1	notch receptor 1	9	Rare Single Gene Mutation, Functional	2		–	11
NOVA2	NOVA alternative splicing regulator 2	19	Rare Single Gene Mutation, Syndromic	–	S	–	3
NPAS3	neuronal PAS domain protein 3	14	Rare Single Gene Mutation, Functional	3		–	8
NPFFR2	neuropeptide FF receptor 2	4	Rare Single Gene Mutation	3		–	7
NPTN	neuroplastin	15	Rare Single Gene Mutation	3		–	3
NR1D1	nuclear receptor subfamily 1 group D member 1	17	Rare Single Gene Mutation	2		–	4
MNT	MAX network transcriptional repressor	17	Genetic Association	2		–	1
NDUFA5	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa	7	Genetic Association	2		–	3
NKX2-2	NK2 homeobox 2	20	Genetic Association, Functional	3		–	2
NPAS2	neuronal PAS domain protein 2	2	Genetic Association	2		–	4
NR2F1	nuclear receptor subfamily 2 group F member 1	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2	S	–	31
NR3C2	Nuclear receptor subfamily 3, group C, member 2	4	Rare Single Gene Mutation, Syndromic	1	S	–	12
NR4A2	nuclear receptor subfamily 4 group A member 2	2	Rare Single Gene Mutation, Syndromic, Functional	1		11.5	17
MSNP1AS	Moesinpseudogene 1, antisense	5	Genetic Association, Functional	2		–	13
NRCAM	neuronal cell adhesion molecule	7	Rare Single Gene Mutation, Genetic Association	2		–	6
NRP2	neuropilin 2	2	Rare Single Gene Mutation, Genetic Association, Functional	2		–	11
NRXN1	neurexin 1	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		143.75	125
NRXN2	neurexin 2	11	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		7	19
NRXN3	neurexin 3	14	Rare Single Gene Mutation, Genetic Association, Functional	1		11.1	31
NSD1	nuclear receptor binding SET domain protein 1	5	Rare Single Gene Mutation, Syndromic, Functional	1	S	22.9	41
NSD2	nuclear receptor binding SET domain protein 2	4	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	15
NSMCE3	NSE3 homolog, SMC5-SMC6 complex component	15	Rare Single Gene Mutation, Functional	2		–	6
NTNG1	netrin G1	1	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	–	8
NTNG2	netrin G2	9	Rare Single Gene Mutation, Syndromic	–	S	–	6
NTRK1	neurotrophic tyrosine kinase, receptor, type 1	1	Rare Single Gene Mutation, Syndromic	2		–	9
NTRK2	neurotrophic receptor tyrosine kinase 2	9	Rare Single Gene Mutation, Syndromic	–	S	–	11
NTRK3	neurotrophic tyrosine kinase, receptor, type 3	15	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	15
NUAK1	NUAK family, SNF1-like kinase, 1	12	Rare Single Gene Mutation, Functional	2		–	6
NUDCD2	NudC domain containing 2	5	Rare Single Gene Mutation	2		–	4
NUP133	nucleoporin 133kDa	1	Rare Single Gene Mutation	2		–	6
NUP155	nucleoporin 155	5	Rare Single Gene Mutation	1		0.1	4
NXF1	nuclear RNA export factor 1	11	Rare Single Gene Mutation	3		–	2
NXPH1	neurexophilin 1	7	Rare Single Gene Mutation	2		–	6
OCRL	oculocerebrorenal syndrome of Lowe	X	Rare Single Gene Mutation, Syndromic	–	S	–	11
OFD1	OFD1, centriole and centriolar satellite protein	X	Rare Single Gene Mutation, Syndromic	2		6	7
OPHN1	oligophrenin 1	X	Rare Single Gene Mutation, Syndromic	2		–	22
OR1C1	olfactory receptor, family 1, subfamily C, member 1	1	Rare Single Gene Mutation	2		–	4
OR2T10	olfactory receptor family 2 subfamily T member 10	1	Rare Single Gene Mutation	2		–	4
OR52M1	Olfactory receptor, family 52, subfamily M, member 1	11	Rare Single Gene Mutation	2		–	3
OTUD7A	OTU deubiquitinase 7A	15	Rare Single Gene Mutation, Functional	2		–	9
OTX1	orthodenticle homeobox 1	2	Rare Single Gene Mutation, Genetic Association	2		–	4
OXT	oxytocin/neurophysin I prepropeptide	20	Rare Single Gene Mutation, Genetic Association	2		–	5
OXTR	oxytocin receptor	3	Rare Single Gene Mutation, Genetic Association, Functional	2		–	52
P2RX5	Purinergic receptor P2X, ligand gated ion channel, 5	17	Rare Single Gene Mutation	2		–	6
P4HA2	Prolyl 4-hydroxylase, alpha polypeptide II	5	Rare Single Gene Mutation	2		–	5
PABPC1	poly(A) binding protein cytoplasmic 1	8	Rare Single Gene Mutation, Syndromic	3	S	–	6
PACS1	phosphofurin acidic cluster sorting protein 1	11	Rare Single Gene Mutation, Syndromic, Functional	1	S	1.35	21
PACS2	phosphofurin acidic cluster sorting protein 2	14	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	14
PAFAH1B2	platelet activating factor acetylhydrolase 1b catalytic subunit 2	11	Rare Single Gene Mutation	2		–	4
PAH	Phenylalanine hydroxylase	12	Rare Single Gene Mutation, Syndromic	1		–	12
PAK1	p21 (RAC1) activated kinase 1	11	Rare Single Gene Mutation, Syndromic	–	S	–	8
PAK2	p21 (RAC1) activated kinase 2	3	Rare Single Gene Mutation, Syndromic	2		–	6
PAPOLG	poly(A) polymerase gamma	2	Rare Single Gene Mutation	2		–	7
PARD3B	Par-3 partitioning defective 3 homolog B (C. elegans)	2	Rare Single Gene Mutation, Genetic Association	2		–	10
OR2M4	Olfactory receptor, family 2, subfamily M, member 4	1	Genetic Association	2		–	1
PATJ	PATJ, crumbs cell polarity complex component	1	Rare Single Gene Mutation, Genetic Association	2		–	7
PAX5	Paired box 5	9	Rare Single Gene Mutation	1		5.75	10
PAX6	Paired box 6	11	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	9
PBX1	PBX homeobox 1	1	Rare Single Gene Mutation	2		–	9
PC	pyruvate carboxylase	11	Rare Single Gene Mutation	3		–	8
PCCA	propionyl-CoA carboxylase alpha subunit	13	Rare Single Gene Mutation, Syndromic	–	S	–	13
PCCB	propionyl-CoA carboxylase beta subunit	3	Rare Single Gene Mutation, Syndromic	1	S	–	12
PCDH10	protocadherin 10	4	Rare Single Gene Mutation, Functional	2		–	12
PCDH11X	protocadherin 11 X-linked	X	Rare Single Gene Mutation, Genetic Association	2		1.1	5
PCDH15	protocadherin related 15	10	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	14
PCDH19	protocadherin 19	X	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	70
PCDH9	protocadherin 9	13	Rare Single Gene Mutation, Genetic Association, Functional	2		–	13
PCDHA1	Protocadherin alpha 1	5	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	5
PCDHA10	Protocadherin alpha 10	5	Rare Single Gene Mutation, Genetic Association	2		–	6
PCDHA11	Protocadherin alpha 11	5	Rare Single Gene Mutation, Genetic Association	2		–	6
PCDHA12	Protocadherin alpha 12	5	Rare Single Gene Mutation, Genetic Association	2		–	5
PCDHA13	Protocadherin alpha 13	5	Rare Single Gene Mutation, Genetic Association	2		–	5
PCDHA2	Protocadherin alpha 2	5	Rare Single Gene Mutation, Genetic Association	2		–	6
PCDHA3	Protocadherin alpha 3	5	Rare Single Gene Mutation, Genetic Association	2		–	5
PCDHA4	Protocadherin alpha 4	5	Rare Single Gene Mutation, Genetic Association	2		–	6
PCDHA5	Protocadherin alpha 5	5	Rare Single Gene Mutation, Genetic Association	2		–	8
PCDHA6	Protocadherin alpha 6	5	Rare Single Gene Mutation, Genetic Association	2		–	4
PCDHA7	Protocadherin alpha 7	5	Rare Single Gene Mutation, Genetic Association	2		–	7
PCDHA8	Protocadherin alpha 8	5	Rare Single Gene Mutation, Genetic Association	2		–	5
PCDHA9	Protocadherin alpha 9	5	Rare Single Gene Mutation, Genetic Association, Functional	2		–	5
PCDHAC1	Protocadherin alpha subfamily C, 1	5	Rare Single Gene Mutation, Genetic Association	2		–	5
PCDHAC2	Protocadherin alpha subfamily C, 2	5	Rare Single Gene Mutation, Genetic Association	2		–	4
PCLO	piccolo presynaptic cytomatrix protein	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	12
PCM1	pericentriolar material 1	8	Rare Single Gene Mutation	2		–	6
PDCD1	programmed cell death 1	2	Rare Single Gene Mutation	2		–	4
PDE1C	phosphodiesterase 1C	7	Rare Single Gene Mutation, Genetic Association	2		–	3
PDE3B	phosphodiesterase 3B	11	Rare Single Gene Mutation	3		–	8
PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	X	Rare Single Gene Mutation, Genetic Association	3		–	8
PDK2	pyruvate dehydrogenase kinase 2	17	Rare Single Gene Mutation	2		–	6
PDZD8	PDZ domain containing 8	10	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	6
PEBP4	phosphatidylethanolamine binding protein 4	8	Rare Single Gene Mutation	3		–	2
PER1	period homolog 1 (Drosophila)	17	Rare Single Gene Mutation, Genetic Association	2		–	10
PER2	period circadian clock 2	2	Rare Single Gene Mutation	2		6.75	8
PEX7	peroxisomal biogenesis factor 7	6	Rare Single Gene Mutation, Genetic Association	2		–	5
PHB1	prohibitin 1	17	Genetic Association	2		–	1
PHF12	PHD finger protein 12	17	Rare Single Gene Mutation	1		9.5	5
PHF14	PHD finger protein 14	7	Rare Single Gene Mutation, Syndromic	3		–	7
PHF2	PHD finger protein 2	9	Rare Single Gene Mutation	1		4.25	8
PHF21A	PHD finger protein 21A	11	Rare Single Gene Mutation, Syndromic, Functional	1	S	5.35	23
PHF3	PHD finger protein 3	6	Rare Single Gene Mutation	1		9.75	5
PHF7	PHD finger protein 7	3	Rare Single Gene Mutation	2		–	4
PHF8	PHD finger protein 8	X	Rare Single Gene Mutation, Syndromic	–	S	–	18
PHIP	pleckstrin homology domain interacting protein	6	Rare Single Gene Mutation, Syndromic	1	S	–	30
PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	18	Rare Single Gene Mutation	3		–	7
PHRF1	PHD and ring finger domains 1	11	Rare Single Gene Mutation	2		–	5
PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	3	Rare Single Gene Mutation, Syndromic	3		–	11
PIK3CG	phosphoinositide-3-kinase, catalytic, gamma polypeptide	7	Rare Single Gene Mutation, Genetic Association	2		–	5
PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	19	Rare Single Gene Mutation, Syndromic	–	S	–	11
PITX1	paired-like homeodomain 1	5	Rare Single Gene Mutation, Genetic Association	2		–	7
PJA1	praja ring finger ubiquitin ligase 1	X	Syndromic	3	S	–	1
PKD1	polycystin 1, transient receptor potential channel interacting	16	Rare Single Gene Mutation	3		–	10
PLAA	phospholipase A2 activating proteinÂ	9	Rare Single Gene Mutation, Syndromic, Functional	3		–	8
PLAUR	Plasminogen activator, urokinase receptor	19	Rare Single Gene Mutation, Genetic Association	2		–	3
PLCB1	phospholipase C, beta 1 (phosphoinositide-specific)	20	Rare Single Gene Mutation	2		–	9
PLCD4	phospholipase C delta 4	2	Rare Single Gene Mutation	2		–	5
PLEKHA8	pleckstrin homology domain containing A8	7	Rare Single Gene Mutation	3		–	2
PLN	phospholamban	6	Rare Single Gene Mutation	2		–	4
PLPPR4	phospholipid phosphatase related 4	1	Rare Single Gene Mutation, Functional	3		–	7
PLXNA3	plexin A3	X	Rare Single Gene Mutation, Syndromic	2		–	11
PLXNA4	Plexin A4	7	Rare Single Gene Mutation, Functional	2		–	7
PLXNB1	plexin B1	3	Rare Single Gene Mutation	2		–	5
PNPLA7	patatin like phospholipase domain containing 7	9	Rare Single Gene Mutation	2		–	7
POGZ	Pogo transposable element with ZNF domain	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	35.4	71
POLA2	DNA polymerase alpha 2, accessory subunit	11	Rare Single Gene Mutation	2		–	7
POLR2A	RNA polymerase II subunit A	17	Rare Single Gene Mutation, Syndromic	3	S	–	13
POLR3A	RNA polymerase III subunit A	10	Rare Single Gene Mutation, Syndromic	3	S	–	14
POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	1	Rare Single Gene Mutation, Syndromic	1	S	1	10
POMT1	protein O-mannosyltransferase 1	9	Rare Single Gene Mutation	2		–	4
PON1	paraoxonase 1	7	Genetic Association	2		–	5
POT1	Protection of telomeres 1 homolog (S. pombe)	7	Rare Single Gene Mutation	2		–	3
POU3F3	POU class 3 homeobox 3	2	Rare Single Gene Mutation, Syndromic	–	S	–	5
PPFIA1	PTPRF interacting protein alpha 1	11	Rare Single Gene Mutation	2		–	6
PPFIA3	PTPRF interacting protein alpha 3	19	Rare Single Gene Mutation, Syndromic, Functional	3	S	–	8
PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	17	Rare Single Gene Mutation, Syndromic	2	S	–	12
PPP1R1B	Protein phosphatase 1, regulatory (inhibitor) subunit 1B	17	Rare Single Gene Mutation, Genetic Association	2		–	2
PPP1R9B	protein phosphatase 1 regulatory subunit 9B	17	Rare Single Gene Mutation	1		1.5	5
PPP2CA	protein phosphatase 2 catalytic subunit alpha	5	Rare Single Gene Mutation, Syndromic	–	S	–	5
PPP2R1B	protein phosphatase 2 regulatory subunit A, beta	11	Rare Single Gene Mutation	2		–	9
PPP2R5C	protein phosphatase 2 regulatory subunit B'gamma	14	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	–	5
PPP2R5D	Protein phosphatase 2, regulatory subunit B', delta	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	8.5	42
PPP3CA	protein phosphatase 3 catalytic subunit alpha	4	Rare Single Gene Mutation, Syndromic	3	S	–	14
PPP5C	protein phosphatase 5 catalytic subunit	19	Rare Single Gene Mutation	1		1	3
PREX1	Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	20	Rare Single Gene Mutation, Genetic Association	2		–	6
PRICKLE1	Prickle homolog 1 (Drosophila)	12	Rare Single Gene Mutation, Syndromic, Functional	2		–	7
PRICKLE2	prickle planar cell polarity protein 2	3	Rare Single Gene Mutation, Functional	2		–	8
PRKAR1B	protein kinase cAMP-dependent type I regulatory subunit beta	7	Rare Single Gene Mutation, Syndromic	2		–	8
PRKCA	protein kinase C alpha	17	Rare Single Gene Mutation, Functional	2		–	7
PRKCB	protein kinase C beta	16	Rare Single Gene Mutation, Genetic Association	2		–	8
PRKD1	Protein kinase D1	14	Rare Single Gene Mutation, Syndromic	–	S	–	7
PRKD2	protein kinase D2	19	Rare Single Gene Mutation	2		–	4
PRKDC	protein kinase, DNA-activated, catalytic polypeptide	8	Rare Single Gene Mutation, Syndromic, Functional	2		–	9
PRKN	parkin RBR E3 ubiquitin protein ligase	6	Rare Single Gene Mutation, Genetic Association, Functional	2		–	20
PRODH	Proline dehydrogenase (oxidase) 1	22	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	–	9
PRPF19	pre-mRNA processing factor 19	11	Rare Single Gene Mutation	3		–	3
PRPF39	pre-mRNA processing factor 39	14	Rare Single Gene Mutation	2		–	3
PRPF8	pre-mRNA processing factor 8	17	Rare Single Gene Mutation, Syndromic	3	S	–	12
PRR12	proline rich 12	19	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	11
PRR14L	proline rich 14 like	22	Rare Single Gene Mutation	1		–	6
PRR25	proline rich 25	16	Rare Single Gene Mutation	3		–	2
PRUNE2	prune homolog 2	9	Rare Single Gene Mutation, Syndromic	2		–	12
PSD3	pleckstrin and Sec7 domain containing 3	8	Rare Single Gene Mutation, Genetic Association	2		–	7
PSMC5	proteasome 26S subunit, ATPase 5	17	Rare Single Gene Mutation	3		–	3
PSMD11	proteasome 26S subunit, non-ATPase 11	17	Rare Single Gene Mutation, Syndromic	1		–	3
PSMD12	proteasome 26S subunit, non-ATPase 12	17	Rare Single Gene Mutation, Syndromic	1	S	6	7
PSMD6	proteasome 26S subunit, non-ATPase 6	3	Rare Single Gene Mutation	1		–	3
PTBP2	polypyrimidine tract binding protein 2	1	Rare Single Gene Mutation, Genetic Association, Functional	2		–	8
PTCHD1	patched domain containing 1	X	Rare Single Gene Mutation, Genetic Association, Functional	1		0.8	24
PTCHD1-AS	PTCHD1antisense RNA (head to head)	X	Rare Single Gene Mutation, Genetic Association	2		13.1	4
PTDSS1	phosphatidylserine synthase 1	8	Rare Single Gene Mutation, Syndromic	3		–	6
PTEN	phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	10	Rare Single Gene Mutation, Syndromic, Functional	1	S	63.15	123
PTGS2	prostaglandin-endoperoxide synthase 2	1	Rare Single Gene Mutation, Genetic Association, Functional	2		–	8
PTK7	Protein tyrosine kinase 7 (inactive)	6	Rare Single Gene Mutation	1		–	9
PTPN11	protein tyrosine phosphatase, non-receptor type 11	12	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	33
PTPN4	protein tyrosine phosphatase non-receptor type 4	2	Rare Single Gene Mutation, Syndromic	–	S	–	5
PTPRB	protein tyrosine phosphatase, receptor type B	12	Rare Single Gene Mutation, Genetic Association	2		–	7
PTPRC	protein tyrosine phosphatase, receptor type, C	1	Rare Single Gene Mutation, Genetic Association	2		–	11
PTPRD	protein tyrosine phosphatase receptor type D	9	Rare Single Gene Mutation, Genetic Association, Functional	2		–	14
PTPRS	protein tyrosine phosphatase receptor type S	19	Rare Single Gene Mutation, Functional	3		–	9
PTPRT	protein tyrosine phosphatase, receptor type, T	20	Rare Single Gene Mutation, Functional	2		–	12
PUF60	poly(U) binding splicing factor 60	8	Rare Single Gene Mutation, Syndromic	3	S	–	5
PXDN	peroxidasin	2	Rare Single Gene Mutation, Syndromic	2		–	9
PYHIN1	Pyrin and HIN domain family, member 1	1	Rare Single Gene Mutation	2		–	4
QRICH1	glutamine rich 1	3	Rare Single Gene Mutation, Syndromic	2		–	15
RAB11FIP4	RAB11 family interacting protein 4	17	Rare Single Gene Mutation, Genetic Association	3		–	3
RAB11FIP5	RAB11 family interacting protein 5	2	Rare Single Gene Mutation, Functional	2		–	6
RAB2A	RAB2A, member RAS oncogene family	8	Rare Single Gene Mutation	2		–	8
RAB39B	RAB39B, member RAS oncogene family	X	Rare Single Gene Mutation, Syndromic, Functional	2		–	19
RAB43	RAB43, member RAS oncogene family	3	Rare Single Gene Mutation	2		–	2
RAC1	Rac family small GTPase 1	7	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	11
RAD21	RAD21cohesin complex component	8	Rare Single Gene Mutation, Syndromic	–	S	–	7
RAD21L1	RAD21 cohesin complex component like 1	20	Rare Single Gene Mutation	2		–	3
RAI1	retinoic acid induced 1	17	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	12.25	41
RALA	RAS like proto-oncogene A	7	Rare Single Gene Mutation, Syndromic	–	S	–	7
RALGAPB	Ral GTPase activating protein non-catalytic beta subunit	20	Rare Single Gene Mutation	1		–	6
RANBP17	RAN binding protein 17	5	Rare Single Gene Mutation	2		–	11
RAP1A	RAP1A, member of RAS oncogene family	1	Rare Single Gene Mutation, Functional	3		–	4
RAPGEF4	Rap guanine nucleotide exchange factor (GEF) 4	2	Rare Single Gene Mutation	2		–	18
RASSF5	Ras association domain family member 5	1	Rare Single Gene Mutation, Genetic Association	2		–	4
RBBP5	RB binding protein 5, histone lysine methyltransferase complex subunit	1	Rare Single Gene Mutation, Functional	2		–	5
RBFOX1	RNA binding protein, fox-1 homolog (C. elegans) 1	16	Rare Single Gene Mutation, Genetic Association, Functional	2		–	46
RBM27	RNA binding motif protein 27	5	Rare Single Gene Mutation	2		–	5
REEP3	receptor accessory protein 3	10	Rare Single Gene Mutation	2		–	3
RELN	Reelin	7	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		7.2	66
RERE	Arginine-glutamic acid dipeptide (RE) repeats	1	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	6.5	22
RFX3	regulatory factor X3	9	Rare Single Gene Mutation, Syndromic, Functional	1		15.95	13
RFX4	regulatory factor X4	12	Rare Single Gene Mutation, Syndromic, Functional	3	S	–	3
RFX7	regulatory factor X7	15	Rare Single Gene Mutation, Syndromic	3	S	–	4
RGS7	regulator of G-protein signaling 7	1	Rare Single Gene Mutation	2		–	6
RHEB	Ras homolog, mTORC1 binding	7	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	3
RICTOR	RPTOR independent companion of MTOR complex 2	5	Rare Single Gene Mutation	3		–	4
RIMS1	Regulating synaptic membrane exocytosis 1	6	Rare Single Gene Mutation, Genetic Association, Functional	1		11.35	13
RIMS2	regulating synaptic membrane exocytosis 2	8	Rare Single Gene Mutation, Syndromic, Genetic Association	3	S	–	7
RIMS3	regulating synaptic membrane exocytosis 3	1	Rare Single Gene Mutation	2		–	4
RLIM	Ring finger protein, LIM domain interacting	X	Rare Single Gene Mutation, Syndromic	–	S	–	7
RNF135	Ring finger protein 135	17	Rare Single Gene Mutation, Syndromic, Genetic Association	2	S	–	5
RNF25	ring finger protein 25	2	Rare Single Gene Mutation	2		–	4
RNF38	ring finger protein 38	9	Rare Single Gene Mutation	2		–	2
RNU2-2	RNA, U2 small nuclear 2	11	Syndromic	1	S	–	2
RNU4-2	RNA, U4 small nuclear 2	12	Syndromic	1	S	–	15
RNU5B-1	RNA, U5B small nuclear 1	15	Syndromic	1	S	–	2
ROBO2	roundabout guidance receptor 2	3	Rare Single Gene Mutation, Genetic Association, Functional	2		–	11
RORA	RAR-related orphan receptor A	15	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	–	S	–	26
RORB	RAR related orphan receptor B	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	8.25	16
RPH3A	rabphilin 3A	12	Rare Single Gene Mutation, Functional	3		–	8
RP11-1407O15.2		17	Rare Single Gene Mutation	2		–	1
RPL10	ribosomal protein L10	X	Rare Single Gene Mutation, Syndromic	2		–	14
RPS6KA2	ribosomal protein S6 kinase, 90kDa, polypeptide 2	6	Rare Single Gene Mutation	2		–	5
RPS6KA3	Ribosomal protein S6 kinase, 90kDa, polypeptide 3	X	Rare Single Gene Mutation, Syndromic	2	S	–	21
RSRC1	arginine and serine rich coiled-coil 1	3	Syndromic, Genetic Association	–	S	–	7
RUNX1T1	RUNX1 partner transcriptional co-repressor 1	8	Rare Single Gene Mutation, Syndromic	1		–	4
SACS	sacsin molecular chaperone	13	Rare Single Gene Mutation	2		–	10
SAE1	SUMO1 activating enzyme subunit 1	19	Rare Single Gene Mutation	2		–	4
SAMD11	sterile alpha motif domain containing 11	1	Rare Single Gene Mutation	2		–	4
SASH1	SAM and SH3 domain containing 1	6	Rare Single Gene Mutation	2		–	4
SATB1	SATB homeobox 1	3	Rare Single Gene Mutation, Syndromic, Functional	1	S	2.5	6
SATB2	SATB homeobox 2	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	24.95	54
SBF1	SET binding factor 1	22	Rare Single Gene Mutation	2		–	11
SCAF1	SR-related CTD associated factor 1	19	Rare Single Gene Mutation	2		–	4
SCAF4	SR-related CTD associated factor 4	21	Rare Single Gene Mutation, Syndromic	2	S	–	8
SCFD2	sec1 family domain containing 2	4	Rare Single Gene Mutation	2		–	4
SCGN	secretagogin, EF-hand calcium binding protein	6	Rare Single Gene Mutation, Functional	3		–	4
SCN1A	sodium channel, voltage-gated, type I, alpha subunit	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	111
RHOXF1	Rhox homeobox family, member 1	X	Genetic Association	2		–	3
RIT2	Ras-like without CAAX 2	18	Genetic Association	2		–	3
SCN2A	sodium channel, voltage-gated, type II, alpha subunit	2	Rare Single Gene Mutation, Syndromic, Functional	1		109.3	153
RPS10P2-AS1	ribosomal protein S10 pseudogene 2 anti-sense 1	20	Genetic Association, Functional	2		–	4
SCN3A	sodium voltage-gated channel alpha subunit 3	2	Rare Single Gene Mutation	3		–	14
SCN4A	Sodium channel, voltage gated, type IV alpha subunit	17	Rare Single Gene Mutation	2		–	7
SCN8A	sodium channel, voltage gated, type VIII, alpha subunit	12	Rare Single Gene Mutation, Syndromic, Functional	1		–	69
SCN9A	sodium voltage-gated channel alpha subunit 9	2	Rare Single Gene Mutation	2		–	14
SCP2	sterol carrier protein 2	1	Rare Single Gene Mutation	2		–	3
SDC2	syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )	8	Rare Single Gene Mutation, Genetic Association	2		–	4
SEMA5A	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	5	Rare Single Gene Mutation, Genetic Association, Functional	2		–	21
SENP1	SUMO specific peptidase 1	12	Rare Single Gene Mutation	3		–	3
SENP6	SUMO specific peptidase 6	6	Rare Single Gene Mutation	3		–	4
SERPINE1	serpin family E member 1	7	Rare Single Gene Mutation, Genetic Association	2		–	4
SET	SETnuclear proto-oncogene	9	Rare Single Gene Mutation	2		4	7
SETBP1	SET binding protein 1	18	Rare Single Gene Mutation, Syndromic, Functional	1		–	40
SETD1A	SET domain containing 1A, histone lysine methyltransferase	16	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	4.35	16
SETD1B	SET domain containing 1B	12	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	27
SETD2	SET domain containing 2	3	Rare Single Gene Mutation, Syndromic	1		–	31
SETD5	SET domain containing 5	3	Rare Single Gene Mutation, Syndromic, Functional	1	S	28.05	51
SETDB1	SET domain, bifurcated 1	1	Rare Single Gene Mutation	2		–	5
SETDB2	SET domain, bifurcated 2	13	Rare Single Gene Mutation, Syndromic	2		–	3
SEZ6L2	SEZ6L2 seizure related 6 homolog (mouse)-like 2	16	Rare Single Gene Mutation, Genetic Association	2		–	8
SF3B1	splicing factor 3b subunit 1	2	Rare Single Gene Mutation	2		–	6
SGSH	N-sulfoglucosamine sulfohydrolase	17	Rare Single Gene Mutation, Syndromic	–	S	–	10
SGSM3	Small G protein signaling modulator 3	22	Rare Single Gene Mutation, Syndromic	2		–	8
SH3RF1	SH3 domain containing ring finger 1	4	Rare Single Gene Mutation, Functional	3		–	5
SH3RF3	SH3 domain containing ring finger 3	2	Rare Single Gene Mutation	2		–	4
SHANK1	SH3 and multiple ankyrin repeat domains 1	19	Rare Single Gene Mutation, Genetic Association	2		14.65	19
SHANK2	SH3 and multiple ankyrin repeat domains 2	11	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		18.55	61
SHANK3	SH3 and multiple ankyrin repeat domains 3	22	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	74.85	186
SHOX	short stature homeobox	X,Y	Rare Single Gene Mutation	2		–	3
SIK1	Salt-inducible kinase 1	21	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	8
SIN3A	SIN3 transcription regulator family member A	15	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	18
SIN3B	SIN3 transcription regulator family member B	19	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	7
SKI	SKIproto-oncogene	1	Rare Single Gene Mutation, Syndromic	1		4.25	9
SLC12A5	Solute carrier family 12 (potassium/chloride transporter), member 5	20	Rare Single Gene Mutation, Functional	2		–	10
SLC1A1	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	9	Rare Single Gene Mutation, Genetic Association	2		–	16
SLC1A2	Solute carrier family 1 (glial high affinity glutamate transporter), member 2	11	Rare Single Gene Mutation, Genetic Association, Functional	3		–	11
SLC22A15	Solute carrier family 22, member 15	1	Genetic Association	2		–	1
SLC22A9	solute carrier family 22 member 9	11	Rare Single Gene Mutation	2		–	7
SLC23A1	solute carrier family 23 member 1	5	Rare Single Gene Mutation	3		–	7
SLC24A2	solute carrier family 24 member 2	9	Rare Single Gene Mutation	2		–	4
SLC25A12	solute carrier family 25 (mitochondrial carrier, Aralar), member 12	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	26
SLC25A27	solute carrier family 25 member 27	6	Genetic Association	2		–	1
SLC25A39	solute carrier family 25 member 39	17	Rare Single Gene Mutation	2		–	3
SLC27A4	Solute carrier family 27 (fatty acid transporter), member 4	9	Rare Single Gene Mutation, Syndromic	2		–	3
SLC29A4	solute carrier family 29 member 4	7	Rare Single Gene Mutation	2		–	2
SLC35B1	solute carrier family 35 member B1	17	Genetic Association	2		–	1
SLC35G1	solute carrier family 35 member G1	10	Rare Single Gene Mutation	2		–	4
SLC38A10	solute carrier family 38, member 10	17	Rare Single Gene Mutation	2		–	3
SLC45A1	solute carrier family 45 member 1	1	Rare Single Gene Mutation, Syndromic	–	S	–	6
SLC4A10	solute carrier family 4, sodium bicarbonate transporter-like, member 10	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	10
SLC6A1	Solute carrier family 6 (neurotransmitter transporter), member 1	3	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	31.15	64
SLC6A3	Solute carrier family 6 (neurotransmitter transporter), member 3	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	2		–	17
SLC6A4	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	17	Rare Single Gene Mutation, Genetic Association, Functional	2		–	31
SLC6A8	solute carrier family 6 (neurotransmitter transporter, creatine), member 8	X	Rare Single Gene Mutation, Syndromic, Functional	2		–	26
SLC7A3	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	X	Rare Single Gene Mutation	2		–	3
SLC7A5	solute carrier family 7 member 5	16	Rare Single Gene Mutation, Functional	2		–	6
SLC7A7	solute carrier family 7 member 7	14	Rare Single Gene Mutation	2		–	6
SLC9A1	solute carrier family 9 member A1	1	Rare Single Gene Mutation	3	S	–	8
SLC9A6	solute carrier family 9 (sodium/hydrogen exchanger), member 6	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	24
SLC9A9	solute carrier family 9 (sodium/hydrogen exchanger), member 9	3	Rare Single Gene Mutation, Genetic Association, Functional	2		–	17
SLCO1B3	Solute carrier organic anion transporter family, member 1B3	12	Rare Single Gene Mutation	2		–	6
SLFN5	schlafen family member 5	17	Rare Single Gene Mutation	3		–	4
SLITRK2	SLIT and NTRK like family member 2	X	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	8
SLITRK5	SLIT and NTRK like family member 5	13	Rare Single Gene Mutation, Functional	2		–	10
SMAD4	SMAD family member 4	18	Rare Single Gene Mutation, Syndromic, Functional	2		–	15
SMAP2	small ArfGAP2	1	Rare Single Gene Mutation, Genetic Association	2		–	5
SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	9	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	–	31
SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	19	Rare Single Gene Mutation, Syndromic, Functional	1		–	27
SMARCC2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	12	Rare Single Gene Mutation, Syndromic, Functional	1	S	10	21
SMC1A	structural maintenance of chromosomes 1A	X	Rare Single Gene Mutation, Syndromic	–	S	–	20
SMC3	structural maintenance of chromosomes 3	10	Rare Single Gene Mutation, Syndromic	2	S	–	16
SMG6	SMG6, nonsense mediated mRNA decay factor	17	Rare Single Gene Mutation	2		–	5
SMURF1	SMAD specific E3 ubiquitin protein ligase 1	7	Rare Single Gene Mutation	2		–	3
SNAP25	Synaptosomal-associated protein, 25kDa	20	Rare Single Gene Mutation, Genetic Association	2		–	14
SNCAIP	synuclein alpha interacting protein	5	Rare Single Gene Mutation	3		–	3
SND1	staphylococcal nuclease and tudor domain containing 1	7	Rare Single Gene Mutation, Genetic Association	2		–	10
SNTG2	syntrophin gamma 2	2	Rare Single Gene Mutation	2		–	7
SNX14	Sorting nexin 14	6	Rare Single Gene Mutation, Syndromic	–	S	–	11
SNX5	sorting nexin 5	20	Rare Single Gene Mutation	2		–	5
SOD1	superoxide dismutase 1	21	Rare Single Gene Mutation, Genetic Association, Functional	2		–	3
SON	SONDNA binding protein	21	Rare Single Gene Mutation, Syndromic, Functional	1	S	11	28
SORCS3	sortilin related VPS10 domain containing receptor 3	10	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	7
SOS2	SOS Ras/Rho guanine nucleotide exchange factor 2	14	Rare Single Gene Mutation, Syndromic, Genetic Association	1		–	7
SOX5	SRY-box 5	12	Rare Single Gene Mutation, Syndromic, Genetic Association	1	S	17.6	26
SOX6	SRY-box transcription factor 6	11	Rare Single Gene Mutation, Syndromic	–	S	–	4
SPARCL1	SPARC like 1	4	Rare Single Gene Mutation, Functional	2		–	5
SPAST	Spastin	2	Rare Single Gene Mutation, Syndromic	1		8.1	18
SPEN	spenfamily transcriptional repressor	1	Rare Single Gene Mutation, Syndromic	2		–	19
SPP2	secreted phosphoprotein 2	2	Rare Single Gene Mutation	2		–	4
SPRY2	sprouty RTK signaling antagonist 2	13	Rare Single Gene Mutation, Genetic Association, Functional	2		–	4
SPTBN1	spectrin beta, non-erythrocytic 1	2	Rare Single Gene Mutation, Syndromic	2	S	–	14
SRCAP	Snf2 related CREBBP activator protein	16	Rare Single Gene Mutation, Syndromic, Functional	1		–	19
SRGAP3	SLIT-ROBO Rho GTPase activating protein 3	3	Rare Single Gene Mutation	2		–	6
SRPRA	SRP receptor subunit alpha	11	Rare Single Gene Mutation	1		4.75	3
SRRM2	serine/arginine repetitive matrix 2	16	Rare Single Gene Mutation, Syndromic	2	S	–	15
SRSF1	serine and arginine rich splicing factor 1	17	Rare Single Gene Mutation, Syndromic	3	S	–	4
SRSF11	serine and arginine rich splicing factor 11	1	Rare Single Gene Mutation	2		–	6
SSR4	signal sequence receptor subunit 4	X	Rare Single Gene Mutation, Syndromic	3		–	4
SSRP1	structure specific recognition protein 1	11	Rare Single Gene Mutation	2		–	3
ST7	suppression of tumorigenicity 7	7	Rare Single Gene Mutation	2		–	4
ST8SIA2	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	15	Rare Single Gene Mutation, Genetic Association, Functional	2		–	12
STAG1	stromal antigen 1	3	Rare Single Gene Mutation, Syndromic	–	S	–	11
STX1A	Syntaxin 1A (brain)	7	Rare Single Gene Mutation, Genetic Association	2		–	7
STXBP1	Syntaxin binding protein 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	19.1	84
STK39	serine threonine kinase 39 (STE20/SPS1 homolog, yeast)	2	Genetic Association	2		–	5
STXBP5	Syntaxin binding protein 5 (tomosyn)	6	Rare Single Gene Mutation	2		–	8
STYK1	Serine/threonine/tyrosine kinase 1	12	Rare Single Gene Mutation, Genetic Association	2		–	4
SUPT16H	SPT16 homolog, facilitates chromatin remodeling subunit	14	Rare Single Gene Mutation, Syndromic	2	S	–	10
SYAP1	Synapse associated protein 1	X	Rare Single Gene Mutation	2		–	2
SYBU	syntabulin	8	Rare Single Gene Mutation	3		–	1
SYCE1	synaptonemal complex central element protein 1	10	Rare Single Gene Mutation	3		–	3
SYN1	Synapsin 1	X	Rare Single Gene Mutation, Functional	1		2.35	30
SYN2	Synapsin II	3	Rare Single Gene Mutation, Genetic Association, Functional	2		–	7
SYNCRIP	synaptotagmin binding cytoplasmic RNA interacting protein	6	Rare Single Gene Mutation, Syndromic	2		–	10
SYNE1	spectrin repeat containing, nuclear envelope 1	6	Rare Single Gene Mutation, Genetic Association	2		–	25
SYNGAP1	synaptic Ras GTPase activating protein 1	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	40.75	126
SYNJ1	synaptojanin 1	21	Rare Single Gene Mutation	2		–	3
SYP	synaptophysin	X	Rare Single Gene Mutation	3		–	6
SYT1	synaptotagmin 1	12	Rare Single Gene Mutation, Syndromic	–	S	–	12
SYT17	synaptotagmin XVII	16	Rare Single Gene Mutation, Genetic Association	2		–	4
TAF1	TATA-box binding protein associated factor 1	X	Rare Single Gene Mutation, Syndromic	–	S	–	18
TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	16	Rare Single Gene Mutation, Genetic Association	2		–	5
TAF4	TATA-box binding protein associated factor 4	20	Rare Single Gene Mutation, Syndromic	2	S	–	5
TAF6	TATA-box binding protein associated factor 6	7	Rare Single Gene Mutation, Syndromic	2		–	9
TANC2	etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	24.95	21
TAOK1	TAO kinase 1	17	Rare Single Gene Mutation, Syndromic, Functional	1	S	8.25	14
TAOK2	TAO kinase 2	16	Rare Single Gene Mutation, Functional	2		–	11
TBC1D23	TBC1 domain family member 23	3	Rare Single Gene Mutation, Syndromic	–	S	–	6
TBC1D31	TBC1 domain family, member 31	8	Rare Single Gene Mutation	2		–	7
TBC1D5	TBC1 domain family, member 5	3	Rare Single Gene Mutation, Genetic Association	2		–	10
TBCB	tubulin folding cofactor B	19	Rare Single Gene Mutation	3		–	3
TBCEL	tubulin folding cofactor E like	11	Rare Single Gene Mutation	1		–	3
TBCK	TBC1 domain containing kinase	4	Rare Single Gene Mutation, Syndromic	1	S	1	6
TBL1X	transducin (beta)-like 1X-linked	X	Genetic Association	2		–	1
TBL1XR1	transducin beta like 1 X-linked receptor 1	3	Rare Single Gene Mutation, Syndromic, Functional	1		9.15	34
TBR1	T-box, brain, 1	2	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1		10.85	48
TBX1	T-box 1	22	Rare Single Gene Mutation, Syndromic, Functional	–	S	–	7
TBX22	T-box transcription factor 22	X	Rare Single Gene Mutation	3		–	2
TCEAL1	transcription elongation factor A like 1	X	Rare Single Gene Mutation, Syndromic	3	S	–	4
TCF20	Transcription factor 20 (AR1)	22	Rare Single Gene Mutation, Syndromic, Functional	1	S	38	35
TCF4	Transcription factor 4	18	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	13.5	79
TCF7L2	Transcription factor 7-like 2 (T-cell specific, HMG-box)	10	Rare Single Gene Mutation, Syndromic, Functional	1		2.1	14
TECTA	tectorin alpha	11	Rare Single Gene Mutation	2		–	10
TEK	TEKreceptortyrosine kinase	9	Rare Single Gene Mutation	1		2	4
TERB2	telomere repeat binding bouquet formation protein 2	15	Rare Single Gene Mutation	2		–	1
TERF2	Telomeric repeat binding factor 2	16	Rare Single Gene Mutation, Functional	2		–	8
TET2	Tet methylcytosine dioxygenase 2	4	Rare Single Gene Mutation, Functional	2		–	8
TET3	tet methylcytosine dioxygenase 3	2	Rare Single Gene Mutation, Syndromic	–	S	–	8
TFB2M	transcription factor B2, mitochondrial	1	Rare Single Gene Mutation	3		–	1
TFE3	transcription factor binding to IGHM enhancer 3	X	Rare Single Gene Mutation, Syndromic	–	S	–	6
TGM1	transglutaminase 1	14	Rare Single Gene Mutation	3		–	4
THBS1	Thrombospondin 1	15	Rare Single Gene Mutation, Genetic Association	2		–	5
THRA	thyroid hormone receptor alpha	17	Rare Single Gene Mutation, Functional	2		–	5
TLE3	TLE family member 3, transcriptional corepressor	15	Rare Single Gene Mutation	1		–	6
TLK2	tousled-like kinase 2	17	Rare Single Gene Mutation, Syndromic	1	S	13.5	26
TLN2	talin 2	15	Rare Single Gene Mutation, Functional	3		–	9
TM4SF19	transmembrane 4 L six family member 19	3	Rare Single Gene Mutation	2		–	4
TM4SF20	Transmembrane 4 L six family member 20	2	Rare Single Gene Mutation, Syndromic	–	S	–	4
TM9SF4	transmembrane 9 superfamily member 4	20	Rare Single Gene Mutation	1		0.5	5
TMEM134	transmembrane protein 134	11	Rare Single Gene Mutation	3		–	3
TMEM39B	transmembrane protein 39B	1	Rare Single Gene Mutation	2		–	6
TMLHE	trimethyllysine hydroxylase, epsilon	X	Rare Single Gene Mutation, Genetic Association, Functional	2		–	11
TNPO3	transportin 3	7	Rare Single Gene Mutation	3		6.35	9
TNRC6B	Trinucleotide repeat containing 6B	22	Rare Single Gene Mutation, Syndromic	2		–	21
TNRC6C	trinucleotide repeat containing adaptor 6C	17	Rare Single Gene Mutation	2		–	6
TNS2	tensin 2	12	Rare Single Gene Mutation	3		–	4
TOP2B	DNA topoisomerase II beta	3	Rare Single Gene Mutation, Functional	2		–	8
TOP3B	Topoisomerase (DNA) III beta	22	Rare Single Gene Mutation, Genetic Association, Functional	2		–	8
TPO	Thyroid peroxidase	2	Rare Single Gene Mutation, Genetic Association	2		–	2
TRAF7	TNF receptor associated factor 7	16	Rare Single Gene Mutation, Syndromic	1	S	3.5	11
TRAP1	TNF receptor associated protein 1	16	Rare Single Gene Mutation	3		–	4
TRAPPC2L	trafficking protein particle complex 2 like	16	Rare Single Gene Mutation, Syndromic	3		–	4
TRAPPC6B	trafficking protein particle complex 6B	14	Rare Single Gene Mutation, Syndromic	–	S	–	9
TRAPPC9	trafficking protein particle complex 9	8	Rare Single Gene Mutation, Syndromic, Functional	2		–	26
TRIM23	tripartite motif containing 23	5	Rare Single Gene Mutation	1		–	8
TRIM32	tripartite motif containing 32	9	Rare Single Gene Mutation, Functional	3		–	5
TRIM33	Tripartite motif containing 33	1	Rare Single Gene Mutation, Genetic Association	2		–	2
TRIM8	tripartite motif containing 8	10	Rare Single Gene Mutation, Syndromic	3	S	–	6
TRIO	Trio Rho guanine nucleotide exchange factor	5	Rare Single Gene Mutation, Syndromic, Functional	1		–	56
TRIP12	Thyroid hormone receptor interactor 12	2	Rare Single Gene Mutation, Syndromic	1	S	27	45
TRPC4	transient receptor potential cation channel subfamily C member 4	13	Rare Single Gene Mutation, Genetic Association, Functional	3		–	6
TRPC5	transient receptor potential cation channel subfamily C member 5	X	Rare Single Gene Mutation	3		–	10
TRPC6	Transient receptor potential cation channel, subfamily C, member 6	11	Rare Single Gene Mutation, Functional	2		7.2	6
TRPM1	transient receptor potential cation channel subfamily M member 1	15	Rare Single Gene Mutation	2		–	6
TRPM3	transient receptor potential cation channel subfamily M member 3	9	Rare Single Gene Mutation, Syndromic	–	S	–	15
TRPM6	transient receptor potential cation channel subfamily M member 6	9	Rare Single Gene Mutation	3		–	6
TRPM7	transient receptor potential cation channel subfamily M member 7	15	Rare Single Gene Mutation	3		–	8
TRRAP	transformation/transcription domain associated protein	7	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	21
TSC1	tuberous sclerosis 1	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	17.1	40
TSC2	tuberous sclerosis 2	16	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	68
TSHZ1	teashirt zinc finger homeobox 1	18	Rare Single Gene Mutation, Syndromic	1		–	6
TSHZ3	teashirt zinc finger homeobox 3	19	Rare Single Gene Mutation, Functional	1		–	8
TSPAN17	tetraspanin 17	5	Rare Single Gene Mutation	2		–	4
TSPAN4	tetraspanin 4	11	Rare Single Gene Mutation	2		–	5
TSPAN7	tetraspanin 7	X	Rare Single Gene Mutation, Functional	2		–	10
TSPOAP1	TSPO associated protein 1	17	Rare Single Gene Mutation	2		–	8
TSPYL2	TSPY like 2	X	Rare Single Gene Mutation, Functional	3		–	7
TTI2	TELO2 interacting protein 2	8	Rare Single Gene Mutation, Syndromic	–	S	–	3
TTN	titin	2	Rare Single Gene Mutation, Syndromic	2	S	–	35
TUBGCP5	tubulin, gamma complex associated protein 5	15	Rare Single Gene Mutation	2		–	6
U2AF2	U2 small nuclear RNA auxiliary factor 2	19	Rare Single Gene Mutation, Syndromic	3		–	8
UBAP2L	ubiquitin associated protein 2 like	1	Rare Single Gene Mutation, Syndromic	1		–	5
UBE3A	ubiquitin protein ligase E3A	15	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	–	55
UBE3C	Ubiquitin protein ligase E3C	7	Rare Single Gene Mutation, Syndromic	2		–	7
UBN2	ubinuclein 2	7	Rare Single Gene Mutation	2		–	5
UBR1	ubiquitin protein ligase E3 component n-recognin 1	15	Rare Single Gene Mutation	1		1.6	4
UBR3	ubiquitin protein ligase E3 component n-recognin 3	2	Rare Single Gene Mutation	2		–	6
UBR5	ubiquitin protein ligase E3 component n-recognin 5	8	Rare Single Gene Mutation, Syndromic	2		18.45	13
TDO2	tryptophan 2,3-dioxygenase	4	Genetic Association	2		–	4
UBE2H	ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)	7	Genetic Association	2		–	2
UGGT1	UDP-glucose glycoprotein glucosyltransferase 1	2	Rare Single Gene Mutation, Syndromic	3	S	–	5
UIMC1	ubiquitin interaction motif containing 1	5	Rare Single Gene Mutation	2		–	6
UNC13A	unc-13 homolog A	19	Rare Single Gene Mutation, Syndromic	2	S	–	11
UNC5D	unc-5 netrin receptor D	8	Rare Single Gene Mutation	3		–	5
UNC79	unc-79 homolog, NALCN channel complex subunit	14	Rare Single Gene Mutation, Functional	2		–	10
UNC80	unc-80 homolog, NALCN activator	2	Rare Single Gene Mutation	2		–	13
UPF2	UPF2, regulator of nonsense mediated mRNA decay	10	Rare Single Gene Mutation, Functional	2		–	10
UPF3B	UPF3B, regulator of nonsense mediated mRNA decay	X	Rare Single Gene Mutation, Syndromic	1	S	–	20
USH2A	usherin	1	Rare Single Gene Mutation	2		–	12
USP15	ubiquitin specific peptidase 15	12	Rare Single Gene Mutation	2		–	5
USP24	ubiquitin specific peptidase 24	1	Rare Single Gene Mutation, Genetic Association	3		–	12
USP27X	ubiquitin specific peptidase 27 X-linked	X	Rare Single Gene Mutation	3		–	7
USP30	ubiquitin specific peptidase 30	12	Rare Single Gene Mutation	3		–	3
USP45	Ubiquitin specific peptidase 45	6	Rare Single Gene Mutation	2		–	7
USP7	Ubiquitin specific peptidase 7 (herpes virus-associated)	16	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	17
USP9X	ubiquitin specific peptidase 9 X-linked	X	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	21
USP9Y	ubiquitin specific peptidase 9, Y-linked	Y	Rare Single Gene Mutation, Genetic Association	2		–	2
VAMP2	vesicle associated membrane protein 2	17	Rare Single Gene Mutation, Syndromic	–	S	–	4
VASH1	vasohibin 1	14	Genetic Association	2		–	4
VCP	valosin containing protein	9	Rare Single Gene Mutation, Functional	3		–	6
VDR	vitamin D receptor	12	Genetic Association, Functional	2		–	10
VEZF1	vascular endothelial zinc finger 1	17	Rare Single Gene Mutation	1		0.5	3
VIL1	Villin 1	2	Rare Single Gene Mutation	2		–	4
VPS13B	vacuolar protein sorting 13 homolog B (yeast)	8	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	1	S	6.35	33
VPS54	VPS54subunit of GARP complex	2	Rare Single Gene Mutation	3		–	3
VSIG4	V-set and immunoglobulin domain containing 4	X	Rare Single Gene Mutation	2		–	4
VWA7	von Willebrand factor A domain containing 7	6	Rare Single Gene Mutation	3		–	3
WAC	WW domain containing adaptor with coiled-coil	10	Rare Single Gene Mutation, Syndromic	1	S	15	34
WASF1	WAS protein family member 1	6	Rare Single Gene Mutation, Syndromic	–	S	–	5
WDFY3	WD repeat and FYVE domain containing 3	4	Rare Single Gene Mutation, Syndromic, Functional	1		17.2	27
WDFY4	WDFY family member 4	10	Rare Single Gene Mutation	2		–	13
WDR26	WD repeat domain 26	1	Rare Single Gene Mutation, Syndromic	–	S	–	11
WDR37	WD repeat domain 37	10	Rare Single Gene Mutation, Syndromic	3		–	6
WDR5	WD repeat domain 5	9	Rare Single Gene Mutation, Syndromic	–	S	–	3
WNK3	WNK lysine deficient protein kinase 3	X	Rare Single Gene Mutation	2		–	9
WNT1	Wingless-type MMTV integration site family, member 1	12	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	6
WWOX	WW domain containing oxidoreductase	16	Rare Single Gene Mutation, Syndromic	2		–	17
WWP1	WW domain containing E3 ubiquitin protein ligase 1	8	Rare Single Gene Mutation	3		–	2
XPC	xeroderma pigmentosum, complementation group C	3	Rare Single Gene Mutation, Syndromic	–	S	–	12
XPO1	exportin 1	2	Rare Single Gene Mutation, Syndromic, Genetic Association	2		–	12
XRCC6	X-ray repair cross complementing 6	22	Rare Single Gene Mutation	3		–	2
YEATS2	YEATS domain containing 2	3	Rare Single Gene Mutation, Genetic Association	2		–	5
YTHDC2	YTH domain containing 2	5	Rare Single Gene Mutation, Genetic Association	2		–	7
YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	17	Rare Single Gene Mutation	2		–	5
YWHAG	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	7	Rare Single Gene Mutation, Syndromic	3	S	–	15
YWHAZ	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	8	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	3		–	16
YY1	YY1transcription factor	14	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	11
ZBTB16	Zinc finger and BTB domain containing 16	11	Rare Single Gene Mutation, Genetic Association, Functional	2		–	3
ZBTB18	zinc finger and BTB domain containing 18	1	Rare Single Gene Mutation, Syndromic	–	S	–	14
ZBTB20	Zinc finger and BTB domain containing 20	3	Rare Single Gene Mutation, Syndromic	1	S	–	32
ZBTB21	zinc finger and BTB domain containing 21	21	Rare Single Gene Mutation	1		–	4
ZBTB47	zinc finger and BTB domain containing 47	3	Rare Single Gene Mutation	3		–	2
ZBTB7A	zinc finger and BTB domain containing 7A	19	Rare Single Gene Mutation, Syndromic	–	S	–	2
ZC3H11A	zinc finger CCCH-type containing 11A	1	Rare Single Gene Mutation	2		–	4
ZC3H4	zinc finger CCCH-type containing 4	19	Rare Single Gene Mutation	2		–	7
ZFHX3	zinc finger homeobox 3	16	Rare Single Gene Mutation, Syndromic	3	S	–	14
ZFHX4	zinc finger homeobox 4	8	Rare Single Gene Mutation, Syndromic	3	S	–	5
ZFX	zinc finger protein X-linked	X	Rare Single Gene Mutation, Syndromic	3	S	–	4
ZFYVE26	zinc finger FYVE-type containing 26	14	Rare Single Gene Mutation	2		–	7
ZMIZ1	zinc finger MIZ-type containing 1	10	Rare Single Gene Mutation, Syndromic, Functional	2	S	–	13
ZMYM2	zinc finger MYM-type containing 2	13	Rare Single Gene Mutation, Syndromic	2	S	–	10
ZMYM3	zinc finger MYM-type containing 3	X	Rare Single Gene Mutation, Syndromic, Genetic Association	–	S	–	9
ZMYND11	Zinc finger, MYND-type containing 11	10	Rare Single Gene Mutation, Syndromic	2		–	18
ZMYND8	zinc finger MYND-type containing 8	20	Rare Single Gene Mutation, Syndromic	1	S	4.5	9
ZNF18	zinc finger protein 18	17	Rare Single Gene Mutation	2		–	2
ZNF292	zinc finger protein 292	6	Rare Single Gene Mutation, Syndromic, Functional	1	S	–	15
ZNF385B	Zinc finger protein 385B	2	Rare Single Gene Mutation, Genetic Association	2		–	3
ZNF462	Zinc finger protein 462	9	Rare Single Gene Mutation, Syndromic, Functional	1	S	10.6	19
ZNF517	Zinc finger protein 517	8	Rare Single Gene Mutation	2		–	5
ZNF532	zinc finger protein 532	18	Rare Single Gene Mutation	3		–	4
ZNF536	zinc finger protein 536	19	Rare Single Gene Mutation, Genetic Association, Functional	3		–	11
ZNF548	zinc finger protein 548	19	Rare Single Gene Mutation	2		–	4
ZNF559	Zinc finger protein 559	19	Rare Single Gene Mutation	2		–	10
ZNF626	zinc finger protein 626	19	Rare Single Gene Mutation	2		–	4
ZNF644	zinc finger protein 644	1	Rare Single Gene Mutation	3		–	3
ZNF711	zinc finger protein 711	X	Rare Single Gene Mutation	2		4.25	5
ZNF713	Zinc finger protein 713	7	Rare Single Gene Mutation	2		–	3
ZNF774	Zinc finger protein 774	15	Rare Single Gene Mutation	2		–	4
ZNF804A	Zinc finger protein 804A	2	Rare Single Gene Mutation, Genetic Association, Functional	2		–	16
ZNF827	Zinc finger protein 827	4	Rare Single Gene Mutation, Genetic Association	2		–	4
ZSWIM6	zinc finger SWIM-type containing 6	5	Rare Single Gene Mutation, Syndromic, Genetic Association, Functional	–	S	–	8
ZWILCH	zwilchkinetochore protein	15	Rare Single Gene Mutation	2		–	5