"Ambry Genetics"[submitter] AND "COL4A1"[gene] - ClinVar

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Items: 55

	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 2478858	NM_001845.6(COL4A1):c.4882G>T (p.Ala1628Ser)	COL4A1 (A1628S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1448039	NM_001845.6(COL4A1):c.4755+3A>G	COL4A1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521827	NM_001845.6(COL4A1):c.4540G>A (p.Ala1514Thr)	COL4A1 (A1514T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314794	NM_001845.6(COL4A1):c.4265C>T (p.Pro1422Leu)	COL4A1 (P1422L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283420	NM_001845.6(COL4A1):c.4069G>T (p.Gly1357Trp)	COL4A1 (G1357W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2167548	NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly)	COL4A1 (D1353G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 872457	NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)	COL4A1 (P1349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2097707	NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)	COL4A1 (V1336I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1163068	NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)	COL4A1 (D1333N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 521804	NM_001845.6(COL4A1):c.3941G>A (p.Gly1314Glu)	COL4A1 (G1314E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1013039	NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys)	COL4A1 (R1238C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521632	NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu)	COL4A1 (G1225E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2071425	NM_001845.6(COL4A1):c.3509T>C (p.Leu1170Pro)	COL4A1 (L1170P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521680	NM_001845.6(COL4A1):c.3505+1G>A	COL4A1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 521117	NM_001845.6(COL4A1):c.3499G>A (p.Glu1167Lys)	COL4A1 (E1167K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254410	NM_001845.6(COL4A1):c.3311G>A (p.Ser1104Asn)	COL4A1 (S1104N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 501320	NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser)	COL4A1 (P1033S)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +6 more	GUncertain significance
Select item 521072	NM_001845.6(COL4A1):c.3067G>A (p.Gly1023Arg)	COL4A1 (G1023R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 521700	NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu)	COL4A1 (G1011E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2201443	NM_001845.6(COL4A1):c.2758C>T (p.Pro920Ser)	COL4A1 (P920S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2306193	NM_001845.6(COL4A1):c.2712A>T (p.Glu904Asp)	COL4A1 (E904D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1370351	NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu)	COL4A1 (P902L)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +7 more	GUncertain significance
Select item 2278277	NM_001845.6(COL4A1):c.2623C>T (p.Pro875Ser)	COL4A1 (P875S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243994	NM_001845.6(COL4A1):c.2514G>T (p.Met838Ile)	COL4A1 (M838I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208663	NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)	COL4A1 (G832R)	Single nucleotide variant (missense variant)	COL4A1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 379845	NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	COL4A1 (G773R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 2487640	NM_001845.6(COL4A1):c.2279T>G (p.Ile760Ser)	COL4A1 (I760S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1025669	NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg)	COL4A1 (S759R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 2278823	NM_001845.6(COL4A1):c.2119A>G (p.Met707Val)	COL4A1 (M707V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 422683	NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp)	COL4A1 (G699D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1326219	NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)	COL4A1 (P694S)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +6 more	GConflicting classifications of pathogenicity
Select item 2321357	NM_001845.6(COL4A1):c.2065A>G (p.Ile689Val)	COL4A1 (I689V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2063551	NM_001845.6(COL4A1):c.1961C>T (p.Pro654Leu)	COL4A1 (P654L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2075301	NM_001845.6(COL4A1):c.1927C>G (p.Pro643Ala)	COL4A1 (P643A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2512809	NM_001845.6(COL4A1):c.1849A>C (p.Lys617Gln)	COL4A1 (K617Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 798195	NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)	COL4A1 (V579I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2303247	NM_001845.6(COL4A1):c.1696C>T (p.His566Tyr)	COL4A1 (H566Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2161012	NM_001845.6(COL4A1):c.1689A>C (p.Arg563Ser)	COL4A1 (R563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1959020	NM_001845.6(COL4A1):c.1536A>T (p.Pro512=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 447158	NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln)	COL4A1 (R476Q)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +7 more	GUncertain significance
Select item 1210063	NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg)	COL4A1 (G474R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 422781	NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)	COL4A1 (L468F)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +6 more	GUncertain significance
Select item 2597430	NM_001845.6(COL4A1):c.1391G>A (p.Gly464Glu)	COL4A1 (G464E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 374667	NM_001845.6(COL4A1):c.1270C>A (p.Gln424Lys)	COL4A1 (Q424K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2203989	NM_001845.6(COL4A1):c.1264C>A (p.Pro422Thr)	COL4A1 (P422T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985005	NM_001845.6(COL4A1):c.1180G>C (p.Gly394Arg)	COL4A1 (G394R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 423149	NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)	COL4A1 (G308R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2461073	NM_001845.6(COL4A1):c.868G>A (p.Gly290Arg)	COL4A1 (G290R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2485003	NM_001845.6(COL4A1):c.813G>A (p.Met271Ile)	COL4A1 (M271I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619840	NM_001845.6(COL4A1):c.673C>A (p.Gln225Lys)	COL4A1 (Q225K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311081	NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)	COL4A1 (I110T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2229555	NM_001845.6(COL4A1):c.124C>T (p.His42Tyr)	COL4A1 (H42Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259718	NM_001845.6(COL4A1):c.40G>T (p.Ala14Ser)	COL4A1 (A14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1350555	NM_001845.6(COL4A1):c.38C>T (p.Pro13Leu)	COL4A1 (P13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 55