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Genes:
ADAMTS8, AKR1E2, ANAPC1, C1orf194, CACNA1D, CARM1, CCHCR1, CDC27, CDH15, CDRT15, CGNL1, CNGA1, CPN2, DOCK8, DSCAM, ECHDC2, EYA4, FAM211B, FANK1, FASN, FCGR2A, FCRL6, FLG2, FLT4, FUT2, HLA-A, HMGN5, HNRNPR, INPP5K, KMT2C, MAGEB16, MAP2K3, MOB3C, NACA2, NCOR1, NRIP2, OR10J1, OR1B1, OR1J1, OR2L8, OR2T5, OR4C15, OR4C16, OR4C3, OR4X1, OR5AR1, OR5K2, PCMTD1, PDE4DIP, PKD1L2, PLSCR1, PNMT, PRAMEF1, RGS9, RHPN2, SCN1A, SHROOM3, SIGLEC12, SIK3, SKA3, SLC17A5, SLC22A10, SLC6A18, SLC9B1, SRPX2, SUSD2, TG, THEM6, TLR10, TMC2, TRAF5, TTC4, UBE2NL, UBE2O, USP29, ZACN, ZDHHC12, ZNF117, ZNF772, ZNF80,

+ Genes associated with diseases 18

Genes at Omim

CACNA1D, CDH15, CNGA1, DOCK8, EYA4, FCGR2A, FLG2, FLT4, FUT2, HLA-A, INPP5K, KMT2C, RGS9, SCN1A, SIK3, SLC17A5, SRPX2, TG,

CACNA1D	Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3) Sinoatrial node dysfunction and deafness, 614896 (3)
CDH15	Mental retardation, autosomal dominant 3, 612580 (3)
CNGA1	Retinitis pigmentosa 49, 613756 (3)
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
EYA4	Deafness, autosomal dominant 10, 601316 (3) ?Cardiomyopathy, dilated, 1J, 605362 (3)
FCGR2A	{Lupus nephritis, susceptibility to}, 152700 (3) {Malaria, severe, susceptibility to}, 611162 (3) {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FLG2	Peeling skin syndrome 6, 618084 (3)
FLT4	Hemangioma, capillary infantile, somatic, 602089 (3) Lymphatic malformation 1, 153100 (3)
FUT2	{Norwalk virus infection, resistance to} (3) {Vitamin B12 plasma level QTL1}, 612542 (3) [Bombay phenotype, digenic], 616754 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
INPP5K	Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
RGS9	Bradyopsia, 608415 (3)
SCN1A	Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3) Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3) Febrile seizures, familial, 3A, 604403 (3) Migraine, familial hemiplegic, 3, 609634 (3)
SIK3	?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)
SLC17A5	Salla disease, 604369 (3) Sialic acid storage disorder, infantile, 269920 (3)
SRPX2	?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3)
TG	Thyroid dyshormonogenesis 3, 274700 (3) {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)

Genes at Clinical Genomics Database

CACNA1D, CDH15, CNGA1, DOCK8, EYA4, FLT4, HLA-A, RGS9, SCN1A, SLC17A5, SRPX2, TG,

CACNA1D	Primary aldosteronism, seizures, and neurologic abnormalities Sinoatrial node dysfunction and deafness
CDH15	Mental retardation, autosomal dominant 3
CNGA1	Retinitis pigmentosa 49
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive
EYA4	Cardiomyopathy, dilated, 1J
FLT4	Lymphedema, hereditary I (Milory disease)
HLA-A	Drug-induced toxicity, susceptibility to
RGS9	Bradyopsia
SCN1A	Migraine, familial hemiplegic 3
SLC17A5	Infantile sialic acid storage disorder Sialuria, Finnish type (Salla disease)
SRPX2	Rolandic epilepsy, mental retardation, and speech dyspraxia
TG	Thyroid dyshormonogenesis 3

Genes at HGMD

Summary

Number of Variants: 83
Number of Genes: 80

Export to: CSV

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ADAMTS8
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	na12878 recessive	11	rs199760382 dbSNP Clinvar	130276014	394.97	G	T	FDRtranche1.00to10.00+	0/1	78	STOP_GAINED	HIGH	None							None None	None None None None	ADAMTS8\|0.042125202\|65.07%
AKR1E2
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	na12878 recessive	10	rs12240276 dbSNP Clinvar	4889403	9782.64	C	T	PASS	0/1	465	STOP_GAINED	HIGH	None	0.07847	0.07847	0.10964				None None	None None None None	AKR1E2\|0.003819928\|87.28%
ANAPC1
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	na12878 recessive	2	rs72936240 dbSNP Clinvar	112614429	1747.84	G	A	PASS	0/1	232	STOP_GAINED	HIGH	None							None None	None None None None	ANAPC1\|0.14646446\|43.53%
C1orf194
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	na12878 recessive	1	rs746312386 dbSNP Clinvar	109650648	28.84	A	T	ESPStandard;HARD_TO_VALIDATE;LowQual	0/1	6	STOP_GAINED	HIGH	None							None None	None None None None	C1orf194\|0.02567423\|71.47%
CACNA1D
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	na12878 recessive	3	rs201865160 dbSNP Clinvar	53839025	340.56	C	A	FDRtranche1.00to10.00+	0/1	228	STOP_GAINED	HIGH	None							None None	None None None None	CACNA1D\|0.678487804\|9.14%
CARM1
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	na12878 recessive	19	rs201539135 dbSNP Clinvar	11019790	138.27	C	A	FDRtranche1.00to10.00+	0/1	67	STOP_GAINED	HIGH	None							None None	None None None None	CARM1\|0.523794567\|14.83%
CCHCR1
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	na12878 recessive	6	rs3130453 dbSNP Clinvar	31124849	1841.36	C	T	PASS	0/1	107	STOP_GAINED	HIGH	None	0.46925	0.46920	0.48507				None None	None None None None	CCHCR1\|0.032661886\|68.3%
CDC27
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	na12878 recessive	17	rs73319503 dbSNP Clinvar	45247362	351.69	G	A	PASS	0/1	81	STOP_GAINED	HIGH	None							None None	None None None None	CDC27\|0.658499283\|9.78%
	View	na12878 recessive	17	rs77685276 dbSNP Clinvar	45214558	8316.76	G	A	FDRtranche1.00to10.00+	0/1	429	STOP_GAINED	HIGH	None							None None	None None None None	CDC27\|0.658499283\|9.78%
	View	na12878 recessive	17	rs62077264 dbSNP Clinvar	45234360	147561.0	A	C	FDRtranche1.00to10.00+	1/1	3708	STOP_GAINED	HIGH	None							None None	None None None None	CDC27\|0.658499283\|9.78%
	View	na12878 recessive	17	rs75204938 dbSNP Clinvar	45234486	1948.3	A	C	ESPStandard;SnpCluster	0/1	99	STOP_GAINED	HIGH	None							None None	None None None None	CDC27\|0.658499283\|9.78%
CDH15
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	na12878 recessive	16	rs2270416 dbSNP Clinvar	89261482	155.22	C	A	PASS	0/1	17	STOP_GAINED	HIGH	None	0.07508	0.07508	0.03649				None None	None None None None	CDH15\|0.019027782\|74.65%
CDRT15