C2673195[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161974	NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)	COL4A1 (G755R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 17420	NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu)	COL4A1 (G528E)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GPathogenic
Select item 18464	NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu)	COL4A1 (G525L)	Indel (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GPathogenic
Select item 17419	NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg)	COL4A1 (G519R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GPathogenic
Select item 18463	NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg)	COL4A1 (G510R)	Single nucleotide variant (missense variant)	Retinal arterial tortuosity +1 more	GPathogenic
Select item 17418	NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val)	COL4A1 (G498V)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GPathogenic
Select item 18462	NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg)	COL4A1 (G498R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GPathogenic
Select item 39863	NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)	COL4A1 (P352L)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity