"GeneDx"[submitter] AND "ERCC1"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	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 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 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 1178721	NM_001983.4(ERCC1):c.*84del	ERCC1, POLR1G	Deletion (3 prime UTR variant)	not provided	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 1276784	NM_001983.4(ERCC1):c.843+348A>G	ERCC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 638523	NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)	ERCC1 (S267P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 2180112	NM_001983.4(ERCC1):c.619C>T (p.Arg207Trp)	ERCC1 (R207W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1257718	NM_001983.4(ERCC1):c.526-109C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224943	NM_001983.4(ERCC1):c.525+256TTTG[7]	ERCC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1228638	NM_001983.4(ERCC1):c.525+33C>A	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489383	NM_001983.4(ERCC1):c.525+2T>C	ERCC1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1311345	NM_001983.4(ERCC1):c.482G>A (p.Gly161Glu)	ERCC1 (G161E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978472	NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp)	ERCC1 (R156W)	Single nucleotide variant (missense variant)	Cutaneous photosensitivity +5 more	GConflicting classifications of pathogenicity
Select item 1195333	NM_001983.4(ERCC1):c.426-98C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804560	NM_001983.4(ERCC1):c.426-168C>G	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286234	NM_001983.4(ERCC1):c.425+86A>G	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182229	NM_001983.4(ERCC1):c.425+35G>C	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 329536	NM_001983.4(ERCC1):c.390T>C (p.Tyr130=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 225945	NM_001983.4(ERCC1):c.354T>C (p.Asn118=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1254715	NM_001983.4(ERCC1):c.346G>A (p.Val116Met)	ERCC1 (V116M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251644	NM_001983.4(ERCC1):c.322-274G>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286343	NM_001983.4(ERCC1):c.321+74C>G	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1319210	NM_001983.4(ERCC1):c.253G>A (p.Gly85Arg)	ERCC1 (G85R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215525	NM_001983.4(ERCC1):c.225G>A (p.Thr75=)	ERCC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 708637	NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)	ERCC1 (A64V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3342960	NM_001983.4(ERCC1):c.109A>T (p.Lys37Ter)	ERCC1 (K37*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1208656	NM_001983.4(ERCC1):c.106-41C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219406	NM_001983.4(ERCC1):c.106-82_106-79del	ERCC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1208315	NM_001983.4(ERCC1):c.105+257C>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264451	NM_001983.4(ERCC1):c.-7-71dup	ERCC1	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1276322	NM_001983.4(ERCC1):c.-7-136A>G	ERCC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1207020	NM_001983.4(ERCC1):c.-8+138G>A	ERCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227955	NM_001983.4(ERCC1):c.-8+123G>T	ERCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290045	NM_001983.4(ERCC1):c.-105C>T	ERCC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1262109	NM_001983.4(ERCC1):c.-127T>C	ERCC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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: 69