ClinVar Miner

List of variants studied for encephaloclastic disorder by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (16):

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies
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
Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 1 with or without ocular anomalies; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Brain small vessel disease 3
Holoprosencephaly 2; Schizencephaly
Holoprosencephaly 3; Microphthalmia, isolated, with coloboma 5; Solitary median maxillary central incisor syndrome; Schizencephaly
Neonatal death; Hydranencephaly; Severe brain malformation; Severe cerebellar hypoplasia
Porencephalic cyst
Porencephalic cyst; Hydrocephalus; Dolichocephaly; Narrow chest; Neonatal hypotonia; Umbilical hernia; Macrocephaly at birth; Severe global developmental delay
Porencephaly
Porencephaly 2
Porencephaly 2; Hemorrhage, intracerebral, susceptibility to
Schizencephaly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser)	rs757453900	0.00001
NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg)	rs2139164302
NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp)	rs2139162750
NM_001846.4(COL4A2):c.431C>G (p.Ser144Ter)

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