10849[Gene ID] - ClinVar

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Items: 73

	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 3308790	NM_012099.3(POLR1G):c.4G>A (p.Glu2Lys)	POLR1G (E2K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216493	NM_012099.3(POLR1G):c.7G>A (p.Glu3Lys)	POLR1G (E3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216474	NM_012099.3(POLR1G):c.11C>T (p.Pro4Leu)	POLR1G (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216483	NM_012099.3(POLR1G):c.35T>C (p.Phe12Ser)	POLR1G (F12S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548800	NM_012099.3(POLR1G):c.36C>G (p.Phe12Leu)	POLR1G (F14L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216489	NM_012099.3(POLR1G):c.64C>G (p.Pro22Ala)	POLR1G (P22A +1 more)	Single nucleotide variant (missense variant)	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 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 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816086	GRCh37/hg19 19q13.32(chr19:45765313-45968157)x3	ERCC1, PPP1R13L +5 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 73