Related gene-specific medical variations for Gene (Select 2071) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338266	NM_000122.2(ERCC3):c.2065-1G>C	ERCC3	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum group B	GLikely pathogenic
Select item 3247457	NC_000002.11:g.(?_128046216)_(128051657_?)del	ERCC3	Deletion	not provided	GPathogenic
Select item 2445410	NM_000122.2(ERCC3):c.1769T>G (p.Met590Arg)	ERCC3 (M526R +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445379	NM_000122.2(ERCC3):c.466A>G (p.Ile156Val)	ERCC3 (I156V +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445295	NM_000122.2(ERCC3):c.36G>C (p.Lys12Asn)	ERCC3 (K12N)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2445243	NM_000122.2(ERCC3):c.1267G>A (p.Ala423Thr)	ERCC3 (A359T +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 1327109	NM_000122.2(ERCC3):c.1457C>T (p.Pro486Leu)	ERCC3 (P422L +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 2, photosensitive	GUncertain significance
Select item 1322831	NM_000122.2(ERCC3):c.1385_1386del (p.His461_Cys462insTer)	ERCC3	Deletion (nonsense)	not provided	GPathogenic
Select item 1319558	NM_000122.2(ERCC3):c.1015G>T (p.Val339Phe)	ERCC3 (V275F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319557	NM_000122.2(ERCC3):c.1130A>T (p.Gln377Leu)	ERCC3 (Q313L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319556	NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)	ERCC3 (Q324* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1319553	NM_000122.2(ERCC3):c.1559G>A (p.Arg520Gln)	ERCC3 (R456Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319552	NM_000122.2(ERCC3):c.1895C>T (p.Ser632Phe)	ERCC3 (S568F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319551	NM_000122.2(ERCC3):c.1900C>T (p.Arg634Cys)	ERCC3 (R570C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319240	NM_000122.2(ERCC3):c.500A>G (p.Lys167Arg)	ERCC3 (K103R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808797	NM_000122.2(ERCC3):c.1700C>T (p.Ala567Val)	ERCC3 (A503V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134127	NM_000122.2(ERCC3):c.682G>C (p.Gly228Arg)	ERCC3 (G228R +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134124	NM_000122.2(ERCC3):c.172G>A (p.Ala58Thr)	ERCC3 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134121	NM_000122.2(ERCC3):c.2182G>A (p.Val728Met)	ERCC3 (V728M +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided