"Ambry Genetics"[submitter] AND "ERCC1"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2466989	NM_012099.3(POLR1G):c.230G>A (p.Arg77Gln)	ERCC1, POLR1G (R77Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216480	NM_012099.3(POLR1G):c.236G>A (p.Arg79His)	ERCC1, POLR1G (R81H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216481	NM_012099.3(POLR1G):c.256T>C (p.Cys86Arg)	ERCC1, POLR1G (C88R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570147	NM_012099.3(POLR1G):c.275C>T (p.Ala92Val)	ERCC1, POLR1G (A94V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514460	NM_012099.3(POLR1G):c.287C>T (p.Ala96Val)	ERCC1, POLR1G (A96V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216482	NM_012099.3(POLR1G):c.305G>A (p.Gly102Glu)	ERCC1, POLR1G (G104E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518031	NM_012099.3(POLR1G):c.409C>T (p.Pro137Ser)	ERCC1, POLR1G (P137S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216485	NM_012099.3(POLR1G):c.449G>A (p.Cys150Tyr)	ERCC1, POLR1G (C150Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463111	NM_012099.3(POLR1G):c.476C>T (p.Thr159Ile)	ERCC1, POLR1G (T159I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216486	NM_012099.3(POLR1G):c.536T>C (p.Met179Thr)	ERCC1, POLR1G (M179T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216487	NM_012099.3(POLR1G):c.568G>T (p.Ala190Ser)	ERCC1, POLR1G (A192S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216488	NM_012099.3(POLR1G):c.625G>A (p.Asp209Asn)	ERCC1, POLR1G (D209N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308792	NM_012099.3(POLR1G):c.644A>C (p.Lys215Thr)	ERCC1, POLR1G (K215T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216490	NM_012099.3(POLR1G):c.677C>G (p.Ala226Gly)	ERCC1, POLR1G (A228G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216491	NM_012099.3(POLR1G):c.685C>T (p.Pro229Ser)	ERCC1, POLR1G (P231S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216492	NM_012099.3(POLR1G):c.752A>G (p.Lys251Arg)	ERCC1, POLR1G (K253R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568859	NM_012099.3(POLR1G):c.883G>C (p.Gly295Arg)	ERCC1, POLR1G (G295R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216494	NM_012099.3(POLR1G):c.887C>T (p.Thr296Met)	ERCC1, POLR1G (T296M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465983	NM_012099.3(POLR1G):c.992A>G (p.Lys331Arg)	ERCC1, POLR1G (K331R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216470	NM_012099.3(POLR1G):c.1019T>A (p.Met340Lys)	ERCC1, POLR1G (M340K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216471	NM_012099.3(POLR1G):c.1082G>C (p.Gly361Ala)	ERCC1, POLR1G (G363A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216472	NM_012099.3(POLR1G):c.1124A>G (p.Gln375Arg)	ERCC1, POLR1G (Q377R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216473	NM_012099.3(POLR1G):c.1195C>A (p.Pro399Thr)	ERCC1, POLR1G (P399T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216475	NM_012099.3(POLR1G):c.1322T>C (p.Leu441Pro)	ERCC1, POLR1G (L441P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216476	NM_012099.3(POLR1G):c.1324G>A (p.Glu442Lys)	ERCC1, POLR1G (E442K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216477	NM_012099.3(POLR1G):c.1393A>C (p.Lys465Gln)	ERCC1, POLR1G (K465Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216478	NM_012099.3(POLR1G):c.1420G>C (p.Glu474Gln)	ERCC1, POLR1G (E474Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216479	NM_012099.3(POLR1G):c.1493G>A (p.Arg498Gln)	ERCC1, POLR1G (R498Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610854	NM_012099.3(POLR1G):c.1497C>G (p.Asp499Glu)	ERCC1, POLR1G (D499E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3308791	NM_012099.3(POLR1G):c.1528G>A (p.Val510Met)	ERCC1, POLR1G (V512M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547301	NM_001983.4(ERCC1):c.758T>G (p.Leu253Arg)	ERCC1 (L253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401929	NM_001983.4(ERCC1):c.442C>G (p.Leu148Val)	ERCC1 (L148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455342	NM_001983.4(ERCC1):c.266A>G (p.Asn89Ser)	ERCC1 (N89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223233	NM_001983.4(ERCC1):c.223A>T (p.Thr75Ser)	ERCC1 (T75S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2323143	NM_001983.4(ERCC1):c.149A>T (p.Asp50Val)	ERCC1 (D50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533455	NM_001983.4(ERCC1):c.31C>G (p.Pro11Ala)	ERCC1 (P11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 36