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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AAK1, AC008686.1, ADAMTS8, AGAP3, ALLC, ALPK2, ANKRD11, ANKRD31, ANO8, ANP32E, APLP2, APOBR, AR, ASPN, ATF7IP2, ATN1, ATXN2, C1orf186, C3orf30, C5orf60, C6orf132, C6orf164, CCDC177, CD7, CDC42EP1, CDKN2AIP, CKAP4, CLCA4, COBL, COL18A1, CTBS, CTSA, DCAF4L2, DCAF8L2, DCP1A, DEFB132, ESX1, FAM174B, FAM194B, FAM230A, FAM71E2, FMN2, FNDC1, GFM2, GIGYF2, GOLGA6L2, GOLGA8G, GOLGA8O, GP1BA, GPR50, GPX1, HAVCR1, HLA-B, HOMEZ, HRC, HTT, IRF2BPL, IST1, ITPKB, KDM6B, KIAA2018, KIF1A, KLF17, KLRF1, KRT3, KRTAP10-7, KRTAP4-1, KRTAP5-1, KRTAP5-2, KRTAP5-5, KRTAP9-8, LENG9, LMLN, LRRC49, MAFA, MAML2, MAML3, MAN2A1, MAP3K4, MEA1, MEF2A, MEGF9, MEOX2, MESP2, MRPL18, MTERFD2, MUC4, MUC6, NCL, NCOA3, NLRP6, NPIPB15, NUMBL, ODF1, OR14A16, OR2A14, OR2W3, OR4C3, OR5H6, ORAI1, OTOP1, PABPC3, PAN2, PHLDA1, PLBD1, PODXL, PRKCSH, PRUNE2, PTPRZ1, QRICH2, RAI1, RIC8A, RIN3, RNF19B, RPTN, SCUBE2, SLC38A10, SLC4A3, SMARCA2, SPAG8, SPATA3, SPRR3, SRPX, SRRD, TBP, TET2, TMEM121, TMEM229A, TMEM52, TMPRSS13, TPTE, TRIM52, TRIOBP, UPF3A, URI1, VEGFC, VSIG10, WWC1, YEATS2, ZCCHC3, ZCCHC6, ZFPM1, ZIC5, ZNF2, ZNF787, ZNF83, ZSWIM6,

+ Genes associated with diseases 31

Genes at Omim

ANKRD11, AR, ASPN, ATN1, ATXN2, COL18A1, CTSA, FMN2, GIGYF2, GP1BA, GPX1, HLA-B, HTT, IRF2BPL, KIF1A, KRT3, MAFA, MAML2, MEF2A, MESP2, ORAI1, PRKCSH, QRICH2, RAI1, SMARCA2, TBP, TET2, TRIOBP, VEGFC, WWC1, ZSWIM6,

ANKRD11	KBG syndrome, 148050 (3)
AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) Hypospadias 1, X-linked, 300633 (3) {Prostate cancer, susceptibility to}, 176807 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
ATN1	Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN2	{Parkinson disease, late-onset, susceptibility to}, 168600 (3) Spinocerebellar ataxia 2, 183090 (3) {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
CTSA	Galactosialidosis, 256540 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
GIGYF2	{Parkinson disease 11}, 607688 (3)
GP1BA	Bernard-Soulier syndrome, type A1 (recessive), 231200 (3) Bernard-Soulier syndrome, type A2 (dominant), 153670 (3) {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3) von Willebrand disease, platelet-type, 177820 (3)
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HLA-B	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIF1A	Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3)
KRT3	Meesmann corneal dystrophy, 122100 (3)
MAFA	Insulinomatosis and diabetes mellitus, 147630 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
ORAI1	Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
QRICH2	Spermatogenic failure 35, 618341 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TET2	Myelodysplastic syndrome, somatic, 614286 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
VEGFC	Lymphatic malformation 4, 615907 (3)
WWC1	[Memory, enhanced, QTL], 615602 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ANKRD11, AR, ATN1, ATXN2, COL18A1, CTSA, FMN2, GIGYF2, GP1BA, HLA-B, HTT, KIF1A, KRT3, MESP2, ORAI1, PRKCSH, RAI1, SMARCA2, TBP, TRIOBP, VEGFC, ZSWIM6,

ANKRD11	KBG syndrome
AR	Androgen insensitivity Androgen insensitivity, partial
ATN1	Dentatorubro-pallidoluysian atrophy
ATXN2	Spinocerebellar ataxia 2
COL18A1	Knobloch syndrome 1
CTSA	Galactosialidosis
FMN2	Mental retardation, autosomal recessive, 47
GIGYF2	Parkinson disease, autosomal dominant, 11
GP1BA	Bernard-Soulier syndrome, type A2 Bernard-Soulier syndrome, type A1 Pseudo-von Willebrand disease
HLA-B	Drug-induced toxicity, susceptibility to
HTT	Huntington disease
KIF1A	Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive
KRT3	Meesmann corneal dystrophy
MESP2	Spondylocostal dysostosis 2, autosomal recessive
ORAI1	Immunodeficiency 9
PRKCSH	Polycystic liver disease
RAI1	Smith-Magenis syndrome
SMARCA2	Nicolaides-Baraitser syndrome
TBP	Spinocerebellar ataxia 17
TRIOBP	Deafness, autosomal recessive 28
VEGFC	Lymphedema, hereditary, ID
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 159
Number of Genes: 147

Export to: CSV

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AAK1
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	013 final	2	rs3832159,rs66931661 dbSNP Clinvar	69741753	560.77	CTGT	C	PASS	0/1	41	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE		0.35583	0.35580	0.34251				None None	None None None None	AAK1\|0.297965723\|27.81%
AC008686.1
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	013 final	19	rs536638867 dbSNP Clinvar	13899041	446.18	CT...	C	PASS	0/1	21	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE		0.42113	0.42110					None None	None None None None	None
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	013 final	11	rs10548872 dbSNP Clinvar	130298117	302.77	GGCA	G	PASS	0/1	21	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE		0.07728	0.47700	0.51250				None None	None None None None	ADAMTS8\|0.042125202\|65.07%
AGAP3
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	013 final	7	rs776100575 dbSNP Clinvar	150783919	861.77	GTCT	G	PASS	1/1	17	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	AGAP3\|0.094196358\|52.32%
ALLC
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	013 final	2	rs66473381,rs759577715,rs796898978,rs201406139,rs34308920 dbSNP Clinvar	3749151	5826.77	GGAA	G	PASS	1/1	132	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE		0.41194	0.41190	0.49313				None None	None None None None	ALLC\|0.091233568\|52.99%
ALPK2
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	013 final	18	rs67925233 dbSNP Clinvar	56204387	2004.77	AC...	A	PASS	0/1	186	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE		0.40196	0.40200					None None	None None None None	ALPK2\|0.002935349\|88.74%
ANKRD11
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	013 final	16	.	89348792	3233.06	CCTG	C	PASS	0/1	175	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	ANKRD11\|0.017604248\|75.55%
ANKRD31
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	013 final	5	rs10563854,rs796339850 dbSNP Clinvar	74491715	6793.77	TTCA	T	PASS	1/1	152	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE		0.58147	0.58150	0.49535				None None	None None None None	ANKRD31\|0.011398689\|79.69%
ANO8
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	013 final	19	.	17439392	237.77	CC...	C	PASS	0/1	18	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	ANO8\|0.037387399\|66.65%
ANP32E
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	013 final	1	rs68136184,rs56692627 dbSNP Clinvar	150199039	760.77	CT...	C	PASS	0/1	37	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE		0.35064	0.35060	0.20257				None None	None None None None	ANP32E\|0.463617374\|17.49%