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+ Genes 12

+ Genes associated with diseases 12

Genes at Omim

ATM, ATP7B, CHRNA2, COQ2, CPS1, HNF1A, INPP5E, NDUFV2, POMT2, RPGRIP1L, TTN, VLDLR,
ATM {Breast cancer, susceptibility to}, 114480 (3)
Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
ATP7B Wilson disease, 277900 (3)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
HNF1A {Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
Hepatic adenoma, somatic, 142330 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
RPGRIP1L COACH syndrome, 216360 (3)
Joubert syndrome 7, 611560 (3)
Meckel syndrome 5, 611561 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)

Genes at Clinical Genomics Database

ATM, ATP7B, CHRNA2, COQ2, CPS1, HNF1A, INPP5E, NDUFV2, POMT2, RPGRIP1L, TTN, VLDLR,
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
ATP7B Wilson disease
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
COQ2 Coenzyme Q10 deficiency 1
CPS1 Carbamoylphosphate synthetase I deficiency
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
NDUFV2 Mitochondrial complex I deficiency
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
RPGRIP1L Meckel syndrome 5
Joubert syndrome 7
COACH syndrome
Retinal degeneration in ciliopathy, modifier of
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
VLDLR Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 12

Export to: CSV
  • Page 1 of 1

ATM
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 11 rs1801516
dbSNP Clinvar 		108175462 5694.9 G A . 0/1 133 None None None 0.06689 0.06689 0.10232 0.08 0.02 3.58 None None rs1801516 3_2 not_specified_Neoplastic_Syndromes\x2c_Hereditary None ATM|0.992666029|0.97%

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 17-11096s1 germline-multisample gatk annotated 17-11098s1 13 rs1801249
dbSNP Clinvar 		52515354 5564.9 A G . 0/1 155 None None None 0.54054 0.54050 0.42244 1.00 0.00 -0.77 None None rs1801249 3_2 Wilson's_disease_not_specified None ATP7B|0.044059753|64.5%

CHRNA2
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 8 rs891398
dbSNP Clinvar 		27324822 7394.33 T C . 1/1 88 None None None 0.61022 0.61020 0.41988 1.00 0.00 -1.45 None None rs891398 3_2 not_specified_not_provided None CHRNA2|0.020223368|74.06%

COQ2
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 4 rs6818847
dbSNP Clinvar 		84205872 11855.9 C A . 0/1 263 None None None 0.64976 0.64980 0.31481 0.33 0.00 0.23 None None rs6818847 3_2 not_specified_not_provided None COQ2|0.032632343|68.33%

CPS1
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 2 rs1047883
dbSNP Clinvar 		211456637 22552.3 A G . 1/1 148 None None None 0.01657 0.40827 0.08 0.01 0.15 None None rs1047883 3_2 not_specified_not_provided None CPS1|0.827402852|5.16%

HNF1A
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 12 rs1169288
dbSNP Clinvar 		121416650 9129.9 A C . 0/1 215 None None None 0.29852 0.29850 0.26250 0.07 0.93 5.23 None None rs1169288 3_2 not_specified_not_provided None HNF1A|0.210728001|35.48%

INPP5E
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 9 rs36064831
dbSNP Clinvar 		139333269 7681.9 G C . 0/1 176 None None None 0.00779 0.00779 0.02186 0.17 0.01 -0.76 None None rs36064831 3_2 not_specified_not_provided None INPP5E|0.014755828|77.32%

NDUFV2
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 18 rs906807
dbSNP Clinvar 		9117867 8556.33 T C . 1/1 79 None None None 0.77895 0.77900 0.20046 1.00 0.00 0.84 None None rs906807 3_2 not_specified_not_provided None NDUFV2|0.511481053|15.31%

POMT2
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 14 rs8177536
dbSNP Clinvar 		77786864 6663.9 G T . 0/1 140 None None None 0.03235 0.03235 0.02936 1.00 0.00 -1.15 None None rs8177536 3_2 not_specified_not_provided None POMT2|0.142379719|44.09%

RPGRIP1L
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 16 rs2111119
dbSNP Clinvar 		53671754 4648.9 C T . 0/1 122 None None None 0.16613 0.16610 0.11019 1.00 0.00 0.92 None None rs2111119 3_2 not_specified_not_provided None RPGRIP1L|0.676796691|9.18%

TTN
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 2 rs72650029
dbSNP Clinvar 		179550287 5942.9 G C . 0/1 139 None None None 0.00359 0.00359 0.00399 1.48 None None rs72650029 3_2 not_specified_not_provided None TTN|0.331370966|25.39%
View 17-11096s1 germline-multisample gatk annotated 17-11098s1 2 rs72648964
dbSNP Clinvar 		179588813 13979.9 C T . 0/1 305 None None None 0.00379 0.00379 0.00274 2.97 None None rs72648964 3_2 not_specified_not_provided None TTN|0.331370966|25.39%

VLDLR
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 17-11096s1 germline-multisample gatk annotated 17-11098s1 9 rs6149
dbSNP Clinvar 		2635545 19050.9 G A . 1/1 263 None None None 0.07947 0.07947 0.05936 0.02 0.04 1.98 None None rs6149 3_2 not_specified_not_provided None VLDLR|0.558705939|13.41%
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