ERCC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
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 1248262	NM_012099.3(POLR1G):c.776A>C (p.Lys259Thr)	ERCC1, POLR1G (K259T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 235480	NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala)	ERCC1, POLR1G (T282A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 1277974	NM_001983.4(ERCC1):c.*590T>C	POLR1G, ERCC1 (K373E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 225987	NM_012099.3(POLR1G):c.1510C>A (p.Gln504Lys)	ERCC1, POLR1G (Q504K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1203639	NM_001983.4(ERCC1):c.*183C>T	ERCC1, POLR1G	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1178721	NM_001983.4(ERCC1):c.*84del	ERCC1, POLR1G	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 3043696	NM_001983.4(ERCC1):c.*9G>C	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant)	ERCC1-related disorder	GLikely benign
Select item 2650110	NM_001983.4(ERCC1):c.870C>T (p.His290=)	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3036757	NM_001983.4(ERCC1):c.864C>T (p.Val288=)	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	ERCC1-related disorder	GLikely benign
Select item 3053135	NM_001983.4(ERCC1):c.844-9C>T	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	ERCC1-related disorder	GLikely benign
Select item 1236680	NM_001983.4(ERCC1):c.844-103G>C	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1275555	NM_001983.4(ERCC1):c.844-110A>G	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1343022	NM_001983.4(ERCC1):c.844-170TAA[5]	ERCC1, POLR1G	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1294443	NM_001983.4(ERCC1):c.844-170TAA[4]	ERCC1, POLR1G	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1291714	NM_001983.4(ERCC1):c.844-168_844-167insAAAAAAAA	POLR1G, ERCC1	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1294452	NM_001983.4(ERCC1):c.844-172_844-171insATAAT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260231	NM_001983.4(ERCC1):c.844-173_844-172insTAAT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1242652	NM_001983.4(ERCC1):c.844-173_844-172insT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182389	NM_001983.4(ERCC1):c.844-173_844-172insTAATAAT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1268268	NM_001983.4(ERCC1):c.844-173A>T	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1254124	NM_001983.4(ERCC1):c.844-174_844-173insT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1274613	NM_001983.4(ERCC1):c.844-176_844-175insTAAT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1203470	NM_001983.4(ERCC1):c.844-176A>T	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1342066	NM_001983.4(ERCC1):c.844-179A>T	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1200521	NM_001983.4(ERCC1):c.844-267G>A	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 127060	NM_001983.4(ERCC1):c.843+357C>T	ERCC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 1276784	NM_001983.4(ERCC1):c.843+348A>G	ERCC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2069389	NM_001983.4(ERCC1):c.843+121C>T	ERCC1 (R298C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 744038	NM_001983.4(ERCC1):c.843+117C>T	ERCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650111	NM_001983.4(ERCC1):c.843+105C>G	ERCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1310442	NM_001983.4(ERCC1):c.843+52A>G	ERCC1 (N275D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 725472	NM_001983.4(ERCC1):c.843+48C>A	ERCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 329534	NM_001983.4(ERCC1):c.843+32G>A	ERCC1 (W292* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign
Select item 716242	NM_001983.4(ERCC1):c.843+6A>G	ERCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 638523	NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)	ERCC1 (S267P +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 4 +1 more	GUncertain significance
Select item 1922483	NM_001983.4(ERCC1):c.798A>G (p.Ala266=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 592147	NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)	ERCC1 (A266T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 444474	NM_001983.4(ERCC1):c.796G>C (p.Ala266Pro)	ERCC1 (A266P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650112	NM_001983.4(ERCC1):c.795C>T (p.Ala265=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1311774	NM_001983.4(ERCC1):c.793G>A (p.Ala265Thr)	ERCC1 (A241T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713169	NM_001983.4(ERCC1):c.792C>T (p.Ile264=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1949158	NM_001983.4(ERCC1):c.775-14C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904190	NM_001983.4(ERCC1):c.775-15G>A	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987543	NM_001983.4(ERCC1):c.775-16C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925509	NM_001983.4(ERCC1):c.775-20C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 127061	NM_001983.4(ERCC1):c.774+64C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 1914616	NM_001983.4(ERCC1):c.723C>T (p.Thr241=)	ERCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1208249	NM_001983.4(ERCC1):c.703-2A>G	ERCC1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1194061	NM_001983.4(ERCC1):c.703-292T>G	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 16778	NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)	ERCC1 (F231L)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 4	GPathogenic
Select item 264678	NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter)	ERCC1 (K226*)	Single nucleotide variant (nonsense)	Cockayne syndrome	Gnot provided
Select item 2180112	NM_001983.4(ERCC1):c.619C>T (p.Arg207Trp)	ERCC1 (R207W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728196	NM_001983.4(ERCC1):c.603-6T>C	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842638	NM_001983.4(ERCC1):c.603-26G>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214733	NM_001983.4(ERCC1):c.603-27C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215095	NM_001983.4(ERCC1):c.603-170A>G	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264070	NM_001983.4(ERCC1):c.603-318A>C	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203129	NM_001983.4(ERCC1):c.602+276C>G	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238559	NM_001983.4(ERCC1):c.602+183del	ERCC1	Deletion (intron variant)	not provided	GBenign
Select item 1237651	NM_001983.4(ERCC1):c.602+182_602+183del	ERCC1	Deletion (intron variant)	not provided	GBenign
Select item 1245816	NM_001983.4(ERCC1):c.602+124C>G	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745138	NM_001983.4(ERCC1):c.597C>T (p.Ala199=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726201	NM_001983.4(ERCC1):c.594C>T (p.Leu198=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992132	NM_001983.4(ERCC1):c.577G>A (p.Asp193Asn)	ERCC1 (D193N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185225	NM_001983.4(ERCC1):c.576C>T (p.Ala192=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501659	NM_001983.4(ERCC1):c.526-1G>A	ERCC1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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