"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ERCC5"[gen - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310906	NM_000123.4(ERCC5):c.-200G>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign
Select item 2643917	NM_000123.4(ERCC5):c.6G>A (p.Gly2=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1048940	NM_000123.4(ERCC5):c.48G>A (p.Gln16=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 134159	NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	BIVM-ERCC5, ERCC5 (P19L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2643918	NM_000123.4(ERCC5):c.327T>C (p.Leu109=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727184	NM_000123.4(ERCC5):c.510T>C (p.Asn170=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	ERCC5-related condition +2 more	GLikely benign
Select item 1675529	NM_000123.4(ERCC5):c.588G>A (p.Leu196=)	ERCC5, BIVM-ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134181	NM_000123.4(ERCC5):c.641G>A (p.Arg214His)	ERCC5, BIVM-ERCC5 (R214H +1 more)	Single nucleotide variant (missense variant)	ERCC5-related condition +3 more	GBenign/Likely benign
Select item 134185	NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)	BIVM-ERCC5, ERCC5 (R263Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3025355	NM_000123.4(ERCC5):c.881-30A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255162	NM_000123.4(ERCC5):c.945C>T (p.His315=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 522357	NM_000123.4(ERCC5):c.960C>T (p.Asp320=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign
Select item 310918	NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	ERCC5, BIVM-ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3025373	NM_000123.4(ERCC5):c.1119C>T (p.Asn373=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310919	NM_000123.4(ERCC5):c.1131T>A (p.Ala377=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 807038	NM_000123.4(ERCC5):c.1225G>A (p.Val409Met)	BIVM-ERCC5, ERCC5 (V409M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 310921	NM_000123.4(ERCC5):c.1287T>C (p.Asp429=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2643919	NM_000123.4(ERCC5):c.1374A>G (p.Val458=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738799	NM_000123.4(ERCC5):c.1536C>T (p.Asp512=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +2 more	GLikely benign
Select item 1692178	NM_000123.4(ERCC5):c.1572G>A (p.Pro524=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 724775	NM_000123.4(ERCC5):c.1587T>C (p.Cys529=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1692179	NM_000123.4(ERCC5):c.1593T>C (p.Asn531=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 310924	NM_000123.4(ERCC5):c.1641C>T (p.Asn547=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2643920	NM_000123.4(ERCC5):c.1694A>G (p.Asp565Gly)	BIVM-ERCC5, ERCC5 (D1019G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 802998	NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)	BIVM-ERCC5, ERCC5 (V1044I +1 more)	Single nucleotide variant (missense variant)	ERCC5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 134195	NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	BIVM-ERCC5, ERCC5 (V597L +1 more)	Single nucleotide variant (missense variant)	BIVM-ERCC5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 718953	NM_000123.4(ERCC5):c.1911C>T (p.Ala637=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643921	NM_000123.4(ERCC5):c.2127C>T (p.Asp709=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1692182	NM_000123.4(ERCC5):c.2163G>A (p.Ala721=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 310928	NM_000123.4(ERCC5):c.2190T>C (p.Asp730=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2643922	NM_000123.4(ERCC5):c.2229C>T (p.Leu743=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744000	NM_000123.4(ERCC5):c.2280C>T (p.Ile760=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 310931	NM_000123.4(ERCC5):c.2295C>T (p.Thr765=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 695453	NM_000123.4(ERCC5):c.2376G>A (p.Ala792=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872453	NM_000123.4(ERCC5):c.2411_2447del (p.Ser804fs)	BIVM-ERCC5, ERCC5 +1 more (S804fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3025403	NM_000123.4(ERCC5):c.2412C>T (p.Ser804=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 932539	NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg)	LOC126861834, ERCC5 +1 more (G1259R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 807039	NM_000123.4(ERCC5):c.2486A>G (p.Asn829Ser)	BIVM-ERCC5, ERCC5 +1 more (N1283S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134162	NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser)	BIVM-ERCC5, ERCC5 (N879S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2643923	NM_000123.4(ERCC5):c.2652T>C (p.His884=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310935	NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +4 more	GBenign/Likely benign
Select item 310936	NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	BIVM-ERCC5, ERCC5 (V940M +1 more)	Single nucleotide variant (missense variant)	BIVM-ERCC5-related condition +6 more	GConflicting classifications of pathogenicity
Select item 134171	NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr)	ERCC5, BIVM-ERCC5 (A1036T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2643924	NM_000123.4(ERCC5):c.3157G>T (p.Gly1053Ter)	BIVM-ERCC5, ERCC5 (G1053* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2643925	NM_000123.4(ERCC5):c.3159A>G (p.Gly1053=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522359	NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +2 more	GBenign/Likely benign
Select item 134166	NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu)	BIVM-ERCC5, ERCC5 (R1080Q +2 more)	Single nucleotide variant (missense variant)	ERCC5-related condition +4 more	GBenign/Likely benign
Select item 2643926	NM_000123.4(ERCC5):c.3396A>G (p.Ser1132=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310942	NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 310943	NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2643927	NM_000123.4(ERCC5):c.3549A>G (p.Lys1183=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 51