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Genes:
ACBD5, AGAP6, ANK3, ANKRD26, ANKRD30A, ANTXRL, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ASAH2, ASAH2C, BEND7, BICC1, BMS1, C10ORF68, C10orf107, C10orf128, C10orf25, C10orf53, C10orf71, CACNB2, CAMK1D, CASC10, CCDC6, CCDC7, CCNY, CDNF, CELF2, CHAT, CSGALNACT2, CSTF2T, CTNNA3, CUBN, DHTKD1, EBLN1, ECHDC3, EGR2, ERCC6, ERCC6-PGBD3, FAM170B, FRMD4A, FRMPD2, GAD2, GATA3, GJD4, GPR158, GPRIN2, ITGA8, ITGB1, JMJD1C, KIAA1217, KIAA1462, LRRC18, LYZL2, MALRD1, MAP3K8, MARCH8, MASTL, MCM10, MEIG1, MKX, MLLT10, MPP7, MRC1L1, MTPAP, MYO3A, NAMPTL, NEBL, NPY4R, NRBF2, NRP1, OGDHL, OLAH, OPTN, OR13A1, OTUD1, PARD3, PCDH15, PHYH, PHYHIPL, PIP4K2A, PLXDC2, PTCHD3, PTER, PTPLA, RASSF4, RET, RPP38, RTKN2, SGMS1, SKIDA1, SLC39A12, SPAG6, SVIL, SYT15, TAF3, THNSL1, TMEM72, UPF2, VSTM4, WDFY4, YME1L1, ZNF239, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF487, ZNF488, ZWINT,

+ Genes associated with diseases 24

Genes at Omim

ANK3, ANKRD26, ARMC4, BICC1, BMS1, CACNB2, CHAT, CTNNA3, CUBN, DHTKD1, EGR2, ERCC6, FRMD4A, GATA3, ITGA8, MAP3K8, MTPAP, MYO3A, OPTN, PCDH15, PHYH, RET, YME1L1, ZNF365,

ANK3	?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26	Thrombocytopenia 2, 188000 (3)
ARMC4	Ciliary dyskinesia, primary, 23, 615451 (3)
BICC1	{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BMS1	?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CACNB2	Brugada syndrome 4, 611876 (3)
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN	Megaloblastic anemia-1, Finnish type, 261100 (3)
DHTKD1	2-aminoadipic 2-oxoadipic aciduria, 204750 (3) ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
EGR2	Charcot-Marie-Tooth disease, type 1D, 607678 (3) Hypomyelinating neuropathy, congenital, 1, 605253 (3) Dejerine-Sottas disease, 145900 (3)
ERCC6	Cerebrooculofacioskeletal syndrome 1, 214150 (3) {Lung cancer, susceptibility to}, 211980 (3) {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3) Cockayne syndrome, type B, 133540 (3) De Sanctis-Cacchione syndrome, 278800 (3) Premature ovarian failure 11, 616946 (3) UV-sensitive syndrome 1, 600630 (3)
FRMD4A	?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
GATA3	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)
ITGA8	Renal hypodysplasia/aplasia 1, 191830 (3)
MAP3K8	Lung cancer, somatic, 211980 (3)
MTPAP	?Spastic ataxia 4, autosomal recessive, 613672 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
OPTN	{Glaucoma, normal tension, susceptibility to}, 606657 (3) Amyotrophic lateral sclerosis 12, 613435 (3) Glaucoma 1, open angle, E, 137760 (3)
PCDH15	Deafness, autosomal recessive 23, 609533 (3) Usher syndrome, type 1D/F digenic, 601067 (3) Usher syndrome, type 1F, 602083 (3)
PHYH	Refsum disease, 266500 (3)
RET	{Hirschsprung disease, protection against}, 142623 (3) {Hirschsprung disease, susceptibility to, 1}, 142623 (3) Central hypoventilation syndrome, congenital, 209880 (3) Medullary thyroid carcinoma, 155240 (3) Multiple endocrine neoplasia IIA, 171400 (3) Multiple endocrine neoplasia IIB, 162300 (3) Pheochromocytoma, 171300 (3)
YME1L1	?Optic atrophy 11, 617302 (3)
ZNF365	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ANKRD26, ARMC4, BICC1, BMS1, CACNB2, CHAT, CTNNA3, CUBN, DHTKD1, EGR2, ERCC6, FRMD4A, GATA3, ITGA8, MASTL, MTPAP, MYO3A, OPTN, PCDH15, PHYH, RET,

ANKRD26	Thrombocytopenia 2
ARMC4	Ciliary dyskinesia, primary, 23
BICC1	Renal dysplasia, cystic, susceptibility to
BMS1	Aplasia cutis congenita, nonsyndromic
CACNB2	Brugada syndrome 4
CHAT	Myasthenic syndrome, congenital 6, presynaptic
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN	Megaloblastic anemia-1, Finnish type
DHTKD1	Charcot-Marie-Tooth disease, type 2Q 2-aminoadipic and 2-oxoadipic aciduria
EGR2	Charcot-Marie-Tooth disease, demyelinating, type 1D Neuropathy, congenital hypomyelinating, 1 Dejerine-Sottas disease
ERCC6	Xeroderma Pigmentosum-Cockayne Syndrome De Sanctis-Cacchione syndrome Premature ovarian failure 11 (AD)
FRMD4A	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
GATA3	Hypoparathyroidism, sensorineural deafness, and renal dysplasia
ITGA8	Renal agenesis, bilateral
MASTL	Thrombocytopenia 2
MTPAP	Spastic ataxia 4, autosomal recessive
MYO3A	Deafness, autosomal recessive 30
OPTN	Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, E
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic
PHYH	Refsum disease
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1

Genes at HGMD

Summary

Number of Variants: 1000
Number of Genes: 112

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ACBD5
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	xah	10	rs7918793 dbSNP Clinvar	27497191	39.1	G	A	.	0/1	87	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.07288	0.07288	0.05951	0.05	0.33		None None	None None None None	None
AGAP6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	xah	10	rs61848260 dbSNP Clinvar	51748684	40.8	G	A	.	0/1	269	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.50020	0.50020		0.17	0.00		None None	None None None None	None
ANK3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	xah	10	rs2297979 dbSNP Clinvar	61965625	48.9	A	G	.	0/1	81	SYNONYMOUS_CODING	LOW	SILENT	0.15156	0.15160	0.18176				None None	None None None None	None
	View	xah	10	rs41274674 dbSNP Clinvar	61832626	49.5	G	A	.	0/1	74	SYNONYMOUS_CODING	LOW	SILENT	0.02756	0.02756	0.04821				None None	None None None None	None
ANKRD26
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	xah	10	rs2274741 dbSNP Clinvar	27303605	50.0	A	T	.	0/1	142	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.31729	0.31730	0.17173	1.00	0.00		None None	None None None None	None
	View	xah	10	rs10829163 dbSNP Clinvar	27317840	48.3	C	T	.	0/1	153	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.31729	0.31730	0.17227	1.00	0.00		None None	None None None None	None
	View	xah	10	rs7897309 dbSNP Clinvar	27389197	341.2	T	C	.	1/1	98	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.94469	0.94470	0.10655	1.00	0.00		None None	None None None None	None
	View	xah	10	rs79092403 dbSNP Clinvar	27382639	50.0	T	C	.	0/1	177	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01038	0.01038	0.00922	0.68	0.01		None None	None None None None	None
	View	xah	10	rs2297145 dbSNP Clinvar	27381349	50.0	T	C	.	0/1	179	SYNONYMOUS_CODING	LOW	SILENT	0.34665	0.34660	0.21011				None None	None None None None	None
ANKRD30A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	xah	10	rs57914746 dbSNP Clinvar	37505179	50.0	T	C	.	0/1	88	SYNONYMOUS_CODING	LOW	SILENT	0.15875	0.15870	0.21071				None None	None None None None	None
	View	xah	10	rs1209750 dbSNP Clinvar	37488689	48.0	G	C	.	0/1	92	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.48223	0.48220	0.40331	0.27	0.02		None None	None None None None	None
	View	xah	10	rs34552277 dbSNP Clinvar	37505159	50.0	G	A	.	0/1	82	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.22764	0.22760	0.28179	0.16	0.04		None None	None None None None	None
	View	xah	10	rs1148259 dbSNP Clinvar	37508450	50.0	A	C	.	0/1	117	SYNONYMOUS_CODING	LOW	SILENT	0.53355	0.53350	0.40857				None None	None None None None	None
ANTXRL
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	xah	10	rs61845226 dbSNP Clinvar	47669277	48.4	C	G	.	0/1	44	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.34285	0.34290		0.14	0.63		None None	None None None None	None
	View	xah	10	rs2999446 dbSNP Clinvar	47682811	50.0	G	A	.	0/1	34	SYNONYMOUS_CODING	LOW	SILENT	0.14457	0.14460					None None	None None None None	None
	View	xah	10	rs10906952 dbSNP Clinvar	47701275	139.4	G	A	.	1/1	31	SYNONYMOUS_CODING	LOW	SILENT	0.27596	0.27600					None None	None None None None	None
	View	xah	10	rs4409768 dbSNP Clinvar	47668707	49.0	T	C	.	0/1	65	SYNONYMOUS_CODING	LOW	SILENT	0.34305	0.34310					None None	None None None None	None
ARHGAP21
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	xah	10	rs3748222 dbSNP Clinvar	24908686	231.9	T	C	.	1/1	63	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.43830	0.43830	0.49047	1.00	0.00		None None	None None None None	None
	View	xah	10	rs10734053 dbSNP Clinvar	24879281	185.1	A	G	.	1/1	46	None	None	None	1.00000	1.00000					None None	None None None None	None