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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
A4GALT, AC002472.13, AC006547.14, AC006946.15, AC008132.1, AC008132.13, ACO2, ACR, ADM2, ADORA2A, AIFM3, ALG12, AP000349.1, AP000350.4, AP1B1, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARHGAP8, ARVCF, ASCC2, ATF4, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BIK, BPIFC, C1QTNF6, C22orf23, C22orf24, C22orf31, C22orf34, C22orf42, C22orf43, C22orf46, CABIN1, CACNA1I, CCDC116, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR5, CECR6, CELSR1, CENPM, CERK, CHCHD10, CHKB, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYB5R3, CYP2D6, CYP2D7P, DEPDC5, DERL3, DGCR14, DGCR2, DGCR6, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, EP300, FAM109B, FAM118A, FAM211B, FAM230A, FAM83F, FBLN1, FLJ27365, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GRAMD4, GSC2, GSTT2, GSTT2B, GTSE1, HDAC10, HIC2, HMGXB4, HPS4, IGLC3, IGLJ2, IGLJ3, IGLJ5, IGLJ7, IGLV1-47, IGLV1-51, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-8, IGLV3-1, IGLV3-12, IGLV3-16, IGLV3-21, IGLV3-25, IGLV4-60, IGLV5-45, IGLV5-48, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCNJ4, KCTD17, KIAA1644, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, LARGE, LIMK2, LMF2, LRP5L, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MEI1, MICAL3, MICALL1, MIOX, MKL1, MMP11, MOV10L1, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NFAM1, NIPSNAP1, NPTXR, ODF3B, OR11H1, OSBP2, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLXNB2, PNPLA3, PNPLA5, POLDIP3, POM121L7, POTEH, PPIL2, PPP6R2, PRAME, PRODH, PRR14L, PRR5, RAB36, RANGAP1, RBFOX2, RFPL1, RFPL2, RFPL3, RGL4, RIBC2, RIMBP3, RIMBP3B, RNF215, RP1-32I10.10, RPL3, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELO, SEZ6L, SFI1, SGSM1, SH3BP1, SHANK3, SLC16A8, SLC2A11, SLC35E4, SLC5A4, SLC7A4, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SREBF2, SRRD, SUSD2, SYCE3, SYNGR1, TBC1D10A, TBC1D22A, TCF20, TCN2, TEF, TEX33, TFIP11, THAP7, THOC5, TMPRSS6, TNRC6B, TOB2, TPST2, TRIOBP, TRMU, TSPO, TTC28, TTC38, TTLL12, TTLL8, TUBA8, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, USP18, VPREB1, WBP2NL, XBP1, XKR3, YDJC, ZBED4, ZC3H7B, ZNF280A, ZNF280B, ZNF70, ZNRF3,

+ Genes associated with diseases 57

Genes at Omim

A4GALT, ACO2, ACR, ALG12, APOL1, APOL2, APOL4, ATP6V1E1, ATXN10, BCR, CHCHD10, CHKB, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, EP300, FBLN1, GGT1, GGT2, HPS4, IL17RA, KCTD17, KREMEN1, LARGE, LZTR1, MKL1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, PRODH, SBF1, SCARF2, SCO2, SHANK3, SNAP29, SOX10, SPECC1L, TCN2, TMPRSS6, TRIOBP, TRMU, TUBA8, TUBGCP6, TXNRD2, TYMP, UPB1, USP18, XBP1,

A4GALT	NOR polyagglutination syndrome, 111400 (3) [Blood group, P1Pk system, P(2) phenotype], 111400 (3) [Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2	Infantile cerebellar-retinal degeneration, 614559 (3) ?Optic atrophy 9, 616289 (3)
ACR	?Male infertility due to acrosin deficiency (2)
ALG12	Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2	{Schizophrenia}, 181500 (1)
APOL4	{Schizophrenia}, 181500 (1)
ATP6V1E1	Cutis laxa, autosomal recessive, type IIC, 617402 (3)
ATXN10	Spinocerebellar ataxia 10, 603516 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
CHCHD10	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3) ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3) Spinal muscular atrophy, Jokela type, 615048 (3)
CHKB	Muscular dystrophy, congenital, megaconial type, 602541 (3)
COMT	{Panic disorder, susceptibility to}, 167870 (3) {Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4	Cataract 23, 610425 (3)
CRYBB2	Cataract 3, multiple types, 601547 (3)
CRYBB3	Cataract 22, 609741 (3)
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYB5R3	Methemoglobinemia, type I, 250800 (3) Methemoglobinemia, type II, 250800 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
DEPDC5	Epilepsy, familial focal, with variable foci 1, 604364 (3)
DGCR2	DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
EP300	Colorectal cancer, somatic, 114500 (3) Menke-Hennekam syndrome 2, 618333 (3) Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
GGT1	?Glutathioninuria, 231950 (3)
GGT2	[Gamma-glutamyltransferase, familial high serum] (2)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA	Immunodeficiency 51, 613953 (3)
KCTD17	Dystonia 26, myoclonic, 616398 (3)
KREMEN1	Ectodermal dysplasia 13, hair/tooth type, 617392 (3)
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LZTR1	{Schwannomatosis-2, susceptibility to}, 615670 (3) Noonan syndrome 10, 616564 (3) Noonan syndrome 2, 605275 (3)
MKL1	Megakaryoblastic leukemia, acute (3)
MYH9	Deafness, autosomal dominant 17, 603622 (3) Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA	Kanzaki disease, 609242 (3) Schindler disease, type I, 609241 (3) Schindler disease, type III, 609241 (3)
NCF4	?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NDUFA6	Mitochondrial complex I deficiency, nuclear type 33, 618253 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PRODH	Hyperprolinemia, type I, 239500 (3) {Schizophrenia, susceptibility to, 4}, 600850 (3)
SBF1	Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SCO2	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) Myopia 6, 608908 (3)
SHANK3	{Schizophrenia 15}, 613950 (3) Phelan-McDermid syndrome, 606232 (3)
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10	PCWH syndrome, 609136 (3) Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3) Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L	Hypertelorism, Teebi type, 145420 (3) ?Facial clefting, oblique, 1, 600251 (3) Opitz GBBB syndrome, type II, 145410 (3)
TCN2	Transcobalamin II deficiency, 275350 (3)
TMPRSS6	Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TRMU	Liver failure, transient infantile, 613070 (3) {Deafness, mitochondrial, modifier of}, 580000 (3)
TUBA8	Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2	?Glucocorticoid deficiency 5, 617825 (3)
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UPB1	Beta-ureidopropionase deficiency, 613161 (3)
USP18	Pseudo-TORCH syndrome 2, 617397 (3)
XBP1	{Major affective disorder-7, susceptibility to}, 612371 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, ATXN10, BCR, CECR1, CHCHD10, CHKB, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, EP300, FBLN1, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, SBF1, SCARF2, SCO2, SHANK3, SNAP29, SOX10, SPECC1L, TCN2, TMPRSS6, TRIOBP, TRMU, TUBA8, TUBGCP6, TYMP, UPB1, UPK3A,

A4GALT	Blood group, P system
ACO2	Infantile cerebellar-retinal degeneration Optic atrophy 9
ALG12	Congenital disorder of glycosylation, type Ig
ATXN10	Spinocerebellar ataxia 10
BCR	CML treatment, response to
CECR1	Polyarteritis nodosa, childhood-onset (ADA2 deficiency) Sneddon syndrome
CHCHD10	Myopathy, isolated mitochondrial, autosomal dominant
CHKB	Muscular dystrophy, congenital, megaconial type
COMT	Medication response, association with
CRYBA4	Cataract 23
CRYBB2	Cataract, sutural, with punctate and cerulean opacities Cataract, Coppock-like Cataract, congenital, cerulean type, 2
CRYBB3	Cataract, congenital nuclear, autosomal recessive, 2
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5
CYB5R3	Methemoglobinemia due to methemoglobin reductase deficiency
CYP2D6	Drug metabolism, CYP2CD6-related
DEPDC5	Epilepsy, familial focal, with variable foci
DGCR2	Schizophrenia
EP300	Rubinstein-Taybi syndrome 2
FBLN1	Synpolydactyly 2
HPS4	Hermansky-Pudlak syndrome 4
IL17RA	Candiasis, familial, 5
KCTD17	Dystonia 26, myoclonic
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LZTR1	Schwannomatosis 2 Noonan syndrome 10
MYH9	Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA	Kanzaki disease Alpha-n-acetylgalactosaminidase deficiency Schindler disease type I Schindler disease type III
NCF4	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
PRODH	Hyperprolinemia, type I
SBF1	Charcot-Marie-Tooth disease, type 4B3
SCARF2	Van den Ende-Gupta syndrome
SCO2	Myopia 6 Leigh syndrome Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Hypertrophic cardiomyopathy
SHANK3	Phelan-McDermid syndrome Schizophrenia
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10	Waardenburg syndrome, type 4C Waardenburg syndrome, type 2E Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Hirschsprung disease, susceptibility to, 10
SPECC1L	Facial clefting, oblique, 1 Opitz GBBB syndrome, type II
TCN2	Transcobalamin II deficiency
TMPRSS6	Iron-refractory iron deficiency anemia
TRIOBP	Deafness, autosomal recessive 28
TRMU	Liver failure, infantile, transient Reversible infantile respiratory chain deficiency
TUBA8	Polymicrogyria with optic nerve hypoplasia
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPB1	Beta-ureidopropionase deficiency
UPK3A	Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 4418
Number of Genes: 286

Export to: CSV

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A4GALT
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	mm180106mm	22	rs11541159 dbSNP Clinvar	43089849	4440.77	T	C	.	0/1	385	NON_SYNONYMOUS_CODING	MODERATE	None	0.35064	0.35060	0.40440	0.26	0.00		None None	None None None None	A4GALT\|0.02220674\|73.08%
	View	mm180106mm	22	rs6002904 dbSNP Clinvar	43089055	3073.77	G	C	.	0/1	264	SYNONYMOUS_CODING	LOW	None	0.69529	0.69530	0.34674				None None	None None None None	A4GALT\|0.02220674\|73.08%
	View	mm180106mm	22	rs9623659 dbSNP Clinvar	43088971	2655.77	C	T	.	0/1	229	SYNONYMOUS_CODING	LOW	None	0.34904	0.34900	0.40420				None None	None None None None	A4GALT\|0.02220674\|73.08%
AC002472.13
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	mm180106mm	22	rs28450680 dbSNP Clinvar	21403376	729.77	C	T	.	0/1	177	SYNONYMOUS_CODING	LOW	None	0.18311	0.18310					None None	None None None None	None
	View	mm180106mm	22	rs201821840 dbSNP Clinvar	21403360	652.77	C	T	.	0/1	181	NON_SYNONYMOUS_CODING	MODERATE	None				0.07	0.98		None None	None None None None	None
	View	mm180106mm	22	rs28504593 dbSNP Clinvar	21403375	766.77	C	A	.	0/1	176	NON_SYNONYMOUS_CODING	MODERATE	None	0.18311	0.18310		0.00	0.88		None None	None None None None	None
	View	mm180106mm	22	rs118037532 dbSNP Clinvar	21401699	3178.77	G	A	.	0/1	246	NON_SYNONYMOUS_CODING	MODERATE	None	0.00539	0.00539		0.89	0.00		None None	None None None None	None
AC006547.14
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	mm180106mm	22	rs175181 dbSNP Clinvar	20136263	1224.77	G	A	.	0/1	140	SYNONYMOUS_CODING	LOW	None	0.19369	0.19370					None None	None None None None	None
AC006946.15
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	mm180106mm	22	rs5748871 dbSNP Clinvar	17603477	2087.77	A	G	.	1/1	70	None	None	None	0.44828	0.44830			0.00		None None	None None None None	None
	View	mm180106mm	22	rs5992629 dbSNP Clinvar	17602839	4446.77	G	A	.	1/1	156	SYNONYMOUS_CODING	LOW	None	0.87820	0.87820					None None	None None None None	None
AC008132.1
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	mm180106mm	22	rs202178494 dbSNP Clinvar	18723583	23.79	A	G	LowQual	0/1	466	NON_SYNONYMOUS_CODING	MODERATE	None				0.76	0.00		None None	None None None None	None
AC008132.13
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	mm180106mm	22	rs542183 dbSNP Clinvar	18834773	223.78	C	T	.	1/1	270	NON_SYNONYMOUS_CODING	MODERATE	None				0.08	0.97		None None	None None None None	None
	View	mm180106mm	22	rs62231276 dbSNP Clinvar	18835221	7132.77	A	G	.	1/1	338	SYNONYMOUS_CODING	LOW	None	0.89397	0.89400					None None	None None None None	None
	View	mm180106mm	22	rs200326813 dbSNP Clinvar	18835523	11.12	T	C	LowQual	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	None
	View	mm180106mm	22	rs62231277 dbSNP Clinvar	18835365	3245.77	T	G	.	1/1	146	SYNONYMOUS_CODING	LOW	None	0.77496	0.77500					None None	None None None None	None
	View	mm180106mm	22	rs16987804 dbSNP Clinvar	18835403	1391.77	A	G	.	1/1	70	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	None
ACO2
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	mm180106mm	22	rs137831 dbSNP Clinvar	41903813	2386.77	A	C	.	0/1	188	SYNONYMOUS_CODING	LOW	None	0.41833	0.41830	0.25796				None None	None None None None	ACO2\|0.657906877\|9.8%
	View	mm180106mm	22	rs1799932 dbSNP Clinvar	41911525	2604.77	C	T	.	0/1	201	SYNONYMOUS_CODING	LOW	None	0.27037	0.27040	0.38375				None None	None None None None	ACO2\|0.657906877\|9.8%
ACR