ClinVar Miner

List of variants reported as likely pathogenic for encephaloclastic disorder by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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
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.3308G>A (p.Gly1103Glu)	rs1877796592
NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp)	rs1594088780

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