"BIVM-ERCC5-related disorder"[Disease/phenotype] AND "PreventionGeneti - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310918	NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 310919	NM_000123.4(ERCC5):c.1131T>A (p.Ala377=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 310921	NM_000123.4(ERCC5):c.1287T>C (p.Asp429=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 738799	NM_000123.4(ERCC5):c.1536C>T (p.Asp512=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 134195	NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	ERCC5, BIVM-ERCC5 (V597L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2067825	NM_000123.4(ERCC5):c.2199+8C>T	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 764720	NM_000123.4(ERCC5):c.2454G>A (p.Ala818=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related disorder +2 more	GBenign/Likely benign
Select item 310935	NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 310936	NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	ERCC5, BIVM-ERCC5 (V940M +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 134167	NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)	BIVM-ERCC5, ERCC5 (Q1013R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522359	NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +2 more	GBenign/Likely benign
Select item 134174	NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr)	ERCC5, BIVM-ERCC5 (A1143T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 310942	NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 719027	NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related disorder +2 more	GConflicting classifications of pathogenicity