| RS2501607993 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501608003 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501608143 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501608750 |
EDNRB
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS2501609479 |
ERCC5
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, Xeroderma pigmentosum |
| RS2501609661 |
EDNRB
|
Health Risk |
Pathogenic |
— |
| RS2501609779 |
ERCC5
|
Health Risk |
Likely pathogenic |
Xeroderma pigmentosum, group G |
| RS2501609911 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501610215 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501610771 |
EDNRB
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2501611645 |
EDNRB
|
Health Risk |
Pathogenic |
— |
| RS2501614620 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501615465 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501616727 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501618509 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501620778 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501621470 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501623572 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501624726 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501627619 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501631607 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2501656603 |
SYNE1
|
Health Risk |
Pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS2501658190 |
NAXD
|
Health Risk |
Pathogenic |
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS2501666796 |
CLDN10
|
Health Risk |
Pathogenic |
HELIX syndrome, HELIX syndrome |
| RS2501666805 |
CLDN10
|
Health Risk |
Likely pathogenic |
HELIX syndrome, HELIX syndrome |
| RS2501672395 |
DCT
|
Health Risk |
Likely pathogenic |
— |
| RS2501676936 |
NAXD
|
Health Risk |
Pathogenic |
Squamous cell lung carcinoma, Squamous cell lung carcinoma |
| RS2501683128 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501698946 |
NAXD
|
Health Risk |
Likely pathogenic |
— |
| RS2501698949 |
NAXD
|
Health Risk |
Likely pathogenic |
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS2501710405 |
NAXD
|
Health Risk |
Conflicting classifications of pathogenicity |
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS2501710854 |
CEP290
|
Health Risk |
Pathogenic/Likely pathogenic |
Senior-Loken syndrome 6, Leber congenital amaurosis |
| RS2501738034 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501741449 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501741661 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501747943 |
OSGEP
|
Health Risk |
Likely pathogenic |
— |
| RS2501749644 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501749650 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501749906 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501752012 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501752117 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501756695 |
OSGEP
|
Health Risk |
Likely pathogenic |
Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS2501757578 |
COL4A1
|
Health Risk |
Likely pathogenic |
COL4A1-related disorder, COL4A1-related disorder |
| RS2501757618 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501757760 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501757966 |
COL4A1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2501761275 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501761313 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501761416 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501763022 |
OSGEP
|
Health Risk |
Pathogenic |
— |
| RS2501768622 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501770185 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501770318 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501770861 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501770952 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501770978 |
COL4A1
|
Health Risk |
Pathogenic |
COL4A1-related disorder, COL4A1-related disorder |
| RS2501771081 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501771259 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501773131 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501775550 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501776220 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501776344 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501777443 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501777565 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501779394 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501779456 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501779464 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501779475 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501779504 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501779644 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501780064 |
COL4A1
|
Health Risk |
Pathogenic |
COL4A1 or COL4A2-related cerebral small vessel disease, COL4A1 or COL4A2-related cerebral small vessel disease |
| RS2501780114 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501780225 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501780336 |
COL4A1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2501780562 |
COL4A1
|
Health Risk |
Likely pathogenic |
COL4A1-related disorder, COL4A1-related disorder |
| RS2501780568 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501782158 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501782514 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501783763 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501787905 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501787937 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501788042 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501788055 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501791541 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501791888 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501791898 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS2501792333 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501798264 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501798569 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501798819 |
PIBF1
|
Health Risk |
Likely pathogenic |
PIBF1-related disorder, PIBF1-related disorder |
| RS2501800324 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501800454 |
CEP290
|
Health Risk |
Likely pathogenic |
Nephronophthisis, Joubert syndrome |
| RS2501800690 |
COL4A1
|
Health Risk |
Pathogenic |
— |
| RS2501800825 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501800882 |
COL4A1
|
Health Risk |
Likely pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS2501800972 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS2501802132 |
CEP290
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501817429 |
CEBPE
|
Health Risk |
Pathogenic |
Specific granule deficiency 1, Specific granule deficiency 1 |
| RS2501817698 |
CEBPE
|
Health Risk |
Pathogenic |
Specific granule deficiency 1, Specific granule deficiency 1 |
| RS2501817724 |
CEBPE
|
Health Risk |
Pathogenic |
Pelger-Huet-like anomaly and episodic fever with abdominal pain, Pelger-Huet-like anomaly and episodic fever with abdominal pain |