ClinVar Miner

List of variants reported as likely pathogenic for retinal arterial tortuosity by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Schizencephaly; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity
Retinal arterial tortuosity

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)	rs375477517	0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)	rs1877827904	0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)	rs567124920	0.00001

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