"GeneReviews"[submitter] AND "COL4A1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17422	NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg)	COL4A1 (G1580R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 17417	NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg)	COL4A1 (G1423R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 17412	NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)	COL4A1 (G1236R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 17416	NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp)	COL4A1 (G1130D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 17413	NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)	COL4A1 (G749S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17421	NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp)	COL4A1 (G720D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GPathogenic/Likely pathogenic
Select item 38962	NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu)	COL4A1 (G590E)	Single nucleotide variant (missense variant)	Retinal arterial tortuosity +4 more	GUncertain significance
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 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 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 17415	NM_001845.6(COL4A1):c.1A>T (p.Met1Leu)	COL4A1 (M1L)	Single nucleotide variant (missense variant +1 more)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic