Related gene-specific medical variations for Gene (Select 2067) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3053135	NM_012099.3(POLR1G):c.*233G>A	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	ERCC1-related disorder	GLikely benign
Select item 3043696	NM_012099.3(POLR1G):c.*165C>G	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant)	ERCC1-related disorder	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 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 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 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 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 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 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 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 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 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 2442006	NM_001983.4(ERCC1):c.467G>A (p.Arg156Gln)	ERCC1 (R156Q)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 4	GUncertain significance
Select item 1343022	NM_012099.3(POLR1G):c.*379ATT[5]	ERCC1, POLR1G	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1342066	NM_012099.3(POLR1G):c.*403T>A	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1319212	NM_001983.4(ERCC1):c.-8+1G>C	ERCC1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1319211	NM_001983.4(ERCC1):c.181G>A (p.Ala61Thr)	ERCC1 (A61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294452	NM_012099.3(POLR1G):c.396_397insATTAT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1294443	NM_012099.3(POLR1G):c.*379ATT[4]	ERCC1, POLR1G	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1291714	NM_012099.3(POLR1G):c.393_394insTTTTTTTT	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1277974	NM_012099.3(POLR1G):c.1117A>G (p.Lys373Glu)	ERCC1, POLR1G (K373E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1275555	NM_012099.3(POLR1G):c.*334T>C	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1274613	NM_012099.3(POLR1G):c.399_400insATTA	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1268268	NM_012099.3(POLR1G):c.*397T>A	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260231	NM_012099.3(POLR1G):c.396_397insATTA	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1254124	NM_012099.3(POLR1G):c.397_398insA	ERCC1, POLR1G	Insertion (intron variant +1 more)	not provided	GBenign
Select item 1248262	NM_001983.4(ERCC1):c.*931T>G	ERCC1, POLR1G (K259T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1242652	NM_012099.3(POLR1G):c.396_397insA	ERCC1, POLR1G	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236680	NM_012099.3(POLR1G):c.*327C>G	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1203639	NM_012099.3(POLR1G):c.1524G>A (p.Gln508=)	ERCC1, POLR1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1203470	NM_012099.3(POLR1G):c.*400T>A	ERCC1, POLR1G	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1200521	NM_012099.3(POLR1G):c.*491C>T	ERCC1, POLR1G	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1182389	NM_012099.3(POLR1G):c.396_397insATTATTA	POLR1G, ERCC1	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1178721	NM_012099.3(POLR1G):c.*90del	ERCC1, POLR1G	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 981245	NM_001983.4(ERCC1):c.321+61_525+132del	ERCC1	Deletion (splice acceptor variant +1 more)	Cutaneous photosensitivity +4 more	GPathogenic
Select item 808600	NM_001983.4(ERCC1):c.199C>T (p.Gln67Ter)	ERCC1 (Q67*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 444475	NM_001983.4(ERCC1):c.155C>A (p.Ser52Ter)	ERCC1 (S52*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 specified +2 more	GConflicting classifications of pathogenicity
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 127065	NM_001983.4(ERCC1):c.106-83G>A	ERCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 127064	NM_001983.4(ERCC1):c.106-73A>G	ERCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 127063	NM_001983.4(ERCC1):c.322-123G>A	ERCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 127062	NM_001983.4(ERCC1):c.426-11G>A	ERCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 127061	NM_001983.4(ERCC1):c.774+64C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
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

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Links from Gene

Items: 65