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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCC4, AL136218.1, ARHGEF7, ATP11A, ATP12A, ATP4B, ATP7B, ATP8A2, B3GALTL, BRCA2, C1QTNF9, C1QTNF9B, CARKD, CARS2, CCDC122, CCDC168, CCDC169, CCDC169-SOHLH2, CCDC70, CDADC1, CDX2, CENPJ, CKAP2, CLN5, CLYBL, COG3, COL4A1, COL4A2, CPB2, CSNK1A1L, DAOA, DCLK1, DCT, DGKH, DIAPH3, DIS3, DOCK9, EDNRB, EFNB2, ELF1, ENOX1, EPSTI1, ERCC5, ESD, EXOSC8, F10, FAM124A, FAM194B, FARP1, FGF9, FLT1, FLT3, FREM2, FRY, GAS6, GJA3, GJB2, GPC6, GPR183, GRK1, GSX1, GTF2F2, HSPH1, HTR2A, IFT88, ING1, IPO5, IRS2, KBTBD6, KDELC1, KL, KLF12, KLHL1, KPNA3, LAMP1, LATS2, LCP1, LMO7, LNX2, LRCH1, MCF2L, MEDAG, METTL21C, MIPEP, MRPS31, MTIF3, MTMR6, MTUS2, MYCBP2, MYO16, MZT1, N4BP2L2, NAA16, NALCN, NBEA, NDFIP2, NEK3, OLFM4, OXGR1, PABPC3, PAN3, PARP4, PCCA, PCDH20, PCDH8, PCDH9, PHF11, PROSER1, PROZ, PSPC1, RAB20, RASA3, RBM26, RCBTB1, RGCC, RNF113B, RNF17, RNF6, RXFP2, SACS, SCEL, SETDB2, SGCG, SHISA2, SKA3, SLC10A2, SLC15A1, SLC25A15, SLC7A1, SLITRK6, SOX21, SPERT, STARD13, STK24, SUPT20H, TBC1D4, THSD1, TMCO3, TMEM255B, TMTC4, TNFRSF19, TNFSF11, TPP2, TPTE2, UCHL3, UFM1, UGGT2, URAD, USPL1, UTP14C, WASF3, ZAR1L, ZC3H13, ZIC2, ZMYM5,

+ Genes associated with diseases 40

Genes at Omim

ATP7B, ATP8A2, BRCA2, CARS2, CENPJ, CLN5, COL4A1, COL4A2, DAOA, DIAPH3, EDNRB, ERCC5, EXOSC8, F10, FGF9, FLT3, FREM2, GJA3, GJB2, GPC6, GRK1, HTR2A, ING1, IRS2, KL, MIPEP, NALCN, PCCA, PROZ, RCBTB1, RNF6, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, TBC1D4, TNFSF11, UFM1, ZIC2,

ATP7B	Wilson disease, 277900 (3)
ATP8A2	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
BRCA2	Fanconi anemia, complementation group D1, 605724 (3) {Glioblastoma 3}, 613029 (3) {Medulloblastoma}, 155255 (3) {Pancreatic cancer 2}, 613347 (3) {Prostate cancer}, 176807 (3) Wilms tumor, 194070 (3) {Breast cancer, male, susceptibility to}, 114480 (3) {Breast-ovarian cancer, familial, 2}, 612555 (3)
CARS2	Combined oxidative phosphorylation deficiency 27, 616672 (3)
CENPJ	Microcephaly 6, primary, autosomal recessive, 608393 (3) ?Seckel syndrome 4, 613676 (3)
CLN5	Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease with or without ocular anomalies, 175780 (3) ?Retinal arteries, tortuosity of, 180000 (3) Schizencephaly, 269160 (3)
COL4A2	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3)
DAOA	{Schizophrenia}, 181500 (2)
DIAPH3	Auditory neuropathy, autosomal dominant, 1, 609129 (3)
EDNRB	{Hirschsprung disease, susceptibility to, 2}, 600155 (3) ABCD syndrome, 600501 (3) Waardenburg syndrome, type 4A, 277580 (3)
ERCC5	Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXOSC8	Pontocerebellar hypoplasia, type 1C, 616081 (3)
F10	Factor X deficiency, 227600 (3)
FGF9	Multiple synostoses syndrome 3, 612961 (3)
FLT3	Leukemia, acute lymphoblastic, somatic, 613065 (3) Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3) Leukemia, acute myeloid, somatic, 601626 (3)
FREM2	Fraser syndrome 2, 617666 (3)
GJA3	Cataract 14, multiple types, 601885 (3)
GJB2	Bart-Pumphrey syndrome, 149200 (3) Hystrix-like ichthyosis with deafness, 602540 (3) Deafness, autosomal dominant 3A, 601544 (3) Deafness, autosomal recessive 1A, 220290 (3) Keratitis-ichthyosis-deafness syndrome, 148210 (3) Keratoderma, palmoplantar, with deafness, 148350 (3) Vohwinkel syndrome, 124500 (3)
GPC6	Omodysplasia 1, 258315 (3)
GRK1	Oguchi disease-2, 613411 (3)
HTR2A	{Major depressive disorder, response to citalopram therapy in}, 608516 (3) {Obsessive-compulsive disorder, susceptibility to}, 164230 (3) {Schizophrenia, susceptibility to}, 181500 (3) {Seasonal affective disorder, susceptibility to}, 608516 (3) {Alcohol dependence, susceptibility to}, 103780 (3) {Anorexia nervosa, susceptibility to}, 606788 (3)
ING1	Squamous cell carcinoma, head and neck, somatic, 275355 (3)
IRS2	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KL	?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
MIPEP	Combined oxidative phosphorylation deficiency 31, 617228 (3)
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3) Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
PCCA	Propionicacidemia, 606054 (3)
PROZ	[Protein Z deficiency], 614024 (3)
RCBTB1	Retinal dystrophy with or without extraocular anomalies, 617175 (3)
RNF6	Esophageal carcinoma, somatic, 133239 (3)
SACS	Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SGCG	Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC10A2	Bile acid malabsorption, primary, 613291 (3)
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLITRK6	Deafness and myopia, 221200 (3)
TBC1D4	{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
TNFSF11	Osteopetrosis, autosomal recessive 2, 259710 (3)
UFM1	Leukodystrophy, hypomyelinating, 14, 617899 (3)
ZIC2	Holoprosencephaly 5, 609637 (3)

Genes at Clinical Genomics Database

ATP7B, BRCA2, CARS2, CENPJ, CLN5, COL4A1, COL4A2, EDNRB, ERCC5, EXOSC8, F10, FGF9, FREM2, GJA3, GJB2, GPC6, GRK1, HTR2A, IFT88, KL, NALCN, PCCA, PROZ, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, TBC1D4, TNFSF11, ZIC2,

ATP7B	Wilson disease
BRCA2	Breast-ovarian cancer, familial, susceptibility to Pancreatic cancer, susceptibility to, 2 Glioma susceptibility 3 Fanconi anemia, complementation group D1 Wilms tumor Medulloblastoma
CARS2	Combined oxidative phosphorylation deficiency 27
CENPJ	Seckel syndrome 4 Microcephaly, primary autosomal recessive, 6
CLN5	Ceroid lipofuscinosis, neuronal, 5
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly
COL4A2	Hemorrhage, intracerebral, susceptibility to
EDNRB	Waardenburg syndrome type 4A ABCD syndrome Hirschsprung disease, susceptibility to, 2
ERCC5	Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome
EXOSC8	Pontocerebellar hypoplasia, type 1C
F10	Factor X deficiency
FGF9	Multiple synostoses syndrome 3
FREM2	Fraser syndrome
GJA3	Cataract 14, multiple types
GJB2	Deafness, autosomal recessive 1A Deafness, digenic Hystrix-like ichthyosis with deafness Deafness, autosomal dominant 3A Bart-Pumphrey syndrome Keratoderma, palmoplantar, with deafness Vohwinkel syndrome Keratitis-icthyosis-deafness syndrome
GPC6	Omodysplasia 1
GRK1	Oguchi disease 2
HTR2A	Major depressive disorder, response to citalopram therapy in Clozapine, response to
IFT88	Ciliopathy, IFT88-related
KL	Tumoral calcinosis, hyperphosphatemic
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
PCCA	Propionic acidemia
PROZ	Protein Z deficiency
RXFP2	Cryptorchidism
SACS	Spastic ataxia, Charlevoix-Saguenay type
SGCG	Muscular dystrophy, limb-girdle, type 2C
SLC10A2	Bile acid malabsorption, primary
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLITRK6	Deafness and myopia
TBC1D4	Diabetes mellitus, noninsulin-dependent 5
TNFSF11	Osteopetrosis, autosomal recessive 2
ZIC2	Holoprosencephaly 5

Genes at HGMD

Summary

Number of Variants: 888
Number of Genes: 155

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ABCC4
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	94231510241520_annotated	13	rs1189466 dbSNP Clinvar	95726541	4589.77	A	G	PASS	0/1	414	SYNONYMOUS_CODING	LOW	SILENT	0.90355	0.90360	0.05467				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	94231510241520_annotated	13	rs899494 dbSNP Clinvar	95861804	3038.77	A	G	PASS	1/1	89	SYNONYMOUS_CODING	LOW	SILENT	0.80751	0.80750	0.16977				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	94231510241520_annotated	13	rs2274406 dbSNP Clinvar	95858996	2620.77	T	C	PASS	0/1	211	SYNONYMOUS_CODING	LOW	SILENT	0.51817	0.51820	0.43911				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	94231510241520_annotated	13	rs2274405 dbSNP Clinvar	95858978	2738.77	T	C	PASS	0/1	234	SYNONYMOUS_CODING	LOW	SILENT	0.62600	0.62600	0.33592				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	94231510241520_annotated	13	rs11568666 dbSNP Clinvar	95816707	2551.77	G	A	PASS	0/1	180	SYNONYMOUS_CODING	LOW	SILENT	0.00519	0.00519	0.00661				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	94231510241520_annotated	13	rs1678339 dbSNP Clinvar	95727780	999.77	T	C	PASS	0/1	75	SYNONYMOUS_CODING	LOW	SILENT	0.88778	0.88780	0.07420				None None	None None None None	ABCC4\|0.142494523\|44.07%
AL136218.1
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	94231510241520_annotated	13	rs3764090 dbSNP Clinvar	50008301	10445.77	A	G	PASS	1/1	325	SYNONYMOUS_CODING	LOW	SILENT	0.83167	0.83170					None None	None None None None	CAB39L\|0.342406603\|24.66%
ARHGEF7
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	94231510241520_annotated	13	rs752867564 dbSNP Clinvar	111953828	4674.77	T	C	PASS	0/1	401	None	None	None							None None	None None None None	ARHGEF7\|0.333638476\|25.2%
ATP11A
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	94231510241520_annotated	13	rs9549564 dbSNP Clinvar	113479813	1337.77	G	A	PASS	0/1	122	SYNONYMOUS_CODING	LOW	SILENT	0.21446	0.21450	0.23182				None None	None None None None	ATP11A\|0.13314168\|45.42%
	View	94231510241520_annotated	13	rs144248225 dbSNP Clinvar	113481088	1906.77	C	T	PASS	0/1	166	SYNONYMOUS_CODING	LOW	SILENT	0.00300	0.00300	0.00992				None None	None None None None	ATP11A\|0.13314168\|45.42%
	View	94231510241520_annotated	13	rs368865 dbSNP Clinvar	113479820	4299.77	A	G	PASS	1/1	112	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.84225	0.84230	0.20145	1.00	0.00		None None	None None None None	ATP11A\|0.13314168\|45.42%
	View	94231510241520_annotated	13	rs9577174 dbSNP Clinvar	113534907	4003.77	T	C	PASS	1/1	113	None	None	None	0.39018	0.39020					None None	None None None None	ATP11A\|0.13314168\|45.42%
	View	94231510241520_annotated	13	rs1320525 dbSNP Clinvar	113527967	2676.77	G	A	PASS	0/1	199	SYNONYMOUS_CODING	LOW	SILENT	0.37480	0.37480	0.36322				None None	None None None None	ATP11A\|0.13314168\|45.42%
ATP12A
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	94231510241520_annotated	13	rs56291145 dbSNP Clinvar	25267017	3996.77	A	C	PASS	0/1	309	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01478	0.01478	0.02745	0.14	0.28		None None	None None None None	ATP12A\|0.195110246\|37.26%
ATP4B
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	94231510241520_annotated	13	rs9285616 dbSNP Clinvar	114312354	877.77	T	G	PASS	1/1	30	SYNONYMOUS_CODING	LOW	SILENT	1.00000	1.00000	0.00008				None None	None None None None	ATP4B\|0.020415795\|73.96%
	View	94231510241520_annotated	13	rs11164142 dbSNP Clinvar	114309226	7431.77	G	A	PASS	1/1	235	SYNONYMOUS_CODING	LOW	SILENT	0.47324	0.47320	0.39028				None None	None None None None	ATP4B\|0.020415795\|73.96%
ATP7B
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	94231510241520_annotated	13	.	52548801	2184.77	G	C	PASS	0/1	168	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.02	0.99		None None	None None None None	ATP7B\|0.044059753\|64.5%
	View	94231510241520_annotated	13	rs1801243 dbSNP Clinvar	52548140	1512.77	A	C	PASS	0/1	126	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.37620	0.37620	0.40122	0.79	0.00		None None	None None None None	ATP7B\|0.044059753\|64.5%
	View	94231510241520_annotated	13	rs1801249 dbSNP Clinvar	52515354	1043.77	A	G	PASS	0/1	91	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.54054	0.54050	0.42244	1.00	0.00		None None	None None None None	ATP7B\|0.044059753\|64.5%