"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521435	NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)	COL4A1 (R1661C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1474956	NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)	COL4A1 (G1233E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GConflicting classifications of pathogenicity
Select item 2500294	NM_001845.6(COL4A1):c.3556+4A>G	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2691895	NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)	COL4A1 (G1133R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 623829	NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)	COL4A1 (G987R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424127	NM_001845.6(COL4A1):c.2627-1G>A	COL4A1	Single nucleotide variant (splice acceptor variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GConflicting classifications of pathogenicity
Select item 1707545	NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)	COL4A1 (N719fs)	Duplication (frameshift variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 434810	NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)	COL4A1 (G693E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GLikely pathogenic
Select item 976164	NM_001845.6(COL4A1):c.1771G>A (p.Val591Ile)	COL4A1 (V591I)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	GUncertain significance
Select item 2576606	NM_001845.6(COL4A1):c.1573G>A (p.Gly525Arg)	COL4A1 (G525R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GLikely pathogenic
Select item 807045	NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn)	COL4A1 (D499N)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GUncertain significance
Select item 1297056	NM_001845.6(COL4A1):c.144+1G>A	COL4A1	Single nucleotide variant (splice donor variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 289628	NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)	COL4A1 (P3T)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GConflicting classifications of pathogenicity
Select item 3068485	NM_001845.6:c.(4756+1_4756-1)_(4928+1_4928-1)del	COL4A1	Deletion	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GLikely pathogenic
Select item 1697310	NM_001845.6:c.(4755+1_4756-1)_(4928+1_4929-1)del	COL4A1	Deletion	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GLikely pathogenic