"Baylor Genetics"[submitter] AND "COL4A1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027966	NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter)	COL4A1 (Y1629*)	Single nucleotide variant (nonsense)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 883090	NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val)	COL4A1 (M1531V)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 1027965	NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu)	COL4A1 (G1257E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1027964	NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg)	COL4A1 (K1235R)	Single nucleotide variant (missense variant)	Retinal arterial tortuosity +1 more	GUncertain significance
Select item 374263	NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1027963	NM_001845.6(COL4A1):c.3406G>A (p.Gly1136Ser)	COL4A1 (G1136S)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GUncertain significance
Select item 596811	NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu)	COL4A1 (K1120E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GUncertain significance
Select item 560984	NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp)	COL4A1 (G1118D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 983450	NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp)	COL4A1 (G1073D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2582543	NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)	COL4A1 (G1047R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GPathogenic
Select item 1027962	NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala)	COL4A1 (G1026A)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1333877	NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser)	COL4A1 (G930S)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GPathogenic/Likely pathogenic
Select item 209141	NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)	COL4A1 (G888R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GPathogenic/Likely pathogenic
Select item 1027961	NM_001845.6(COL4A1):c.2458+1G>A	COL4A1	Single nucleotide variant (splice donor variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GPathogenic
Select item 135653	NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)	COL4A1 (G696S)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GPathogenic
Select item 1032008	NM_001845.6(COL4A1):c.1717A>C (p.Lys573Gln)	COL4A1 (K573Q)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GUncertain significance
Select item 2582554	NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)	COL4A1 (G154M)	Indel (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2442093	NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)	COL4A1 (Q57*)	Single nucleotide variant (nonsense)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic