"3billion"[submitter] AND "COL4A1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705698	NM_001845.6(COL4A1):c.4660C>A (p.Pro1554Thr)	COL4A1 (P1554T)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 2444192	NM_001845.6(COL4A1):c.4463G>T (p.Gly1488Val)	COL4A1 (G1488V)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1301893	NM_001845.6(COL4A1):c.4250-1G>A	COL4A1	Single nucleotide variant (splice acceptor variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GPathogenic/Likely pathogenic
Select item 1526042	NM_001845.6(COL4A1):c.4022-1G>A	COL4A1	Single nucleotide variant (splice acceptor variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 2444271	NM_001845.6(COL4A1):c.3607C>T (p.Pro1203Ser)	COL4A1 (P1203S)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1440046	NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup)	COL4A1	Duplication (inframe_insertion)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 1333653	NM_001845.6(COL4A1):c.2924G>A (p.Gly975Glu)	COL4A1 (G975E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1333331	NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter)	COL4A1 (R968*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 208663	NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)	COL4A1 (G832R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 379845	NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	COL4A1 (G773R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +6 more	GPathogenic/Likely pathogenic
Select item 2572468	NM_001845.6(COL4A1):c.1655C>T (p.Pro552Leu)	COL4A1 (P552L)	Single nucleotide variant (missense variant)	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	GUncertain significance
Select item 2444401	NM_001845.6(COL4A1):c.1465G>A (p.Gly489Ser)	COL4A1 (G489S)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	GLikely pathogenic
Select item 1077129	NM_001845.6(COL4A1):c.388-1G>C	COL4A1	Single nucleotide variant (splice acceptor variant)	Colpocephaly +4 more	GPathogenic/Likely pathogenic