"GeneDx"[submitter] AND "ERCC3"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 331068	NM_000122.2(ERCC3):c.*259G>A	ERCC3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331071	NM_000122.2(ERCC3):c.*106T>C	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B +1 more	GLikely benign
Select item 331072	NM_000122.2(ERCC3):c.*29C>T	ERCC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum group B +1 more	GBenign/Likely benign
Select item 1189980	NM_000122.2(ERCC3):c.2248A>C (p.Met750Leu)	ERCC3 (M686L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1277158	NM_000122.2(ERCC3):c.2218-64G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239854	NM_000122.2(ERCC3):c.2218-91G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1980975	NM_000122.2(ERCC3):c.2146G>A (p.Val716Ile)	ERCC3 (V652I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306453	NM_000122.2(ERCC3):c.2120A>G (p.Glu707Gly)	ERCC3 (E643G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134120	NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)	ERCC3 (S704L +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B +2 more	GBenign/Likely benign
Select item 331076	NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)	ERCC3 (A694T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B +2 more	GConflicting classifications of pathogenicity
Select item 1194655	NM_000122.2(ERCC3):c.2065-267A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183522	NM_000122.2(ERCC3):c.2064+334_2064+343del	ERCC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1246427	NM_000122.2(ERCC3):c.2064+282A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224685	NM_000122.2(ERCC3):c.1946-256C>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237627	NM_000122.2(ERCC3):c.1945+120A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221012	NM_000122.2(ERCC3):c.1828-37del	ERCC3	Deletion (intron variant)	not provided	GBenign
Select item 1190664	NM_000122.2(ERCC3):c.1827+267C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252121	NM_000122.2(ERCC3):c.1827+64A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803644	NM_000122.2(ERCC3):c.1807A>T (p.Asn603Tyr)	ERCC3 (N539Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870690	NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)	ERCC3 (E588fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1070632	NM_000122.2(ERCC3):c.1757del (p.Gln586fs)	ERCC3 (Q522fs +1 more)	Deletion (frameshift variant)	Trichothiodystrophy 2, photosensitive +3 more	GPathogenic/Likely pathogenic
Select item 1198318	NM_000122.2(ERCC3):c.1731-59T>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204902	NM_000122.2(ERCC3):c.1731-148A>C	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212382	NM_000122.2(ERCC3):c.1731-196G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186452	NM_000122.2(ERCC3):c.1731-251T>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225381	NM_000122.2(ERCC3):c.1730+266C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343359	NM_000122.2(ERCC3):c.1644C>G (p.Ile548Met)	ERCC3 (I484M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281133	NM_000122.2(ERCC3):c.1528-192C>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239738	NM_000122.2(ERCC3):c.1528-250C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200918	NM_000122.2(ERCC3):c.1527+269G>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 331079	NM_000122.2(ERCC3):c.1485G>A (p.Glu495=)	ERCC3	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum group B +1 more	GBenign/Likely benign
Select item 3365736	NM_000122.2(ERCC3):c.1483G>C (p.Glu495Gln)	ERCC3 (E431Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134130	NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)	ERCC3 (D474fs +1 more)	Duplication (frameshift variant)	Xeroderma pigmentosum group B +3 more	GPathogenic/Likely pathogenic
Select item 995893	NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	ERCC3 (R388* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum group B +1 more	GPathogenic/Likely pathogenic
Select item 1283690	NM_000122.2(ERCC3):c.1342+231C>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209324	NM_000122.2(ERCC3):c.1342+157del	ERCC3	Deletion (intron variant)	not provided	GLikely benign
Select item 16585	NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	ERCC3 (R425* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 2098116	NM_000122.2(ERCC3):c.1163A>G (p.Gln388Arg)	ERCC3 (Q324R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335950	NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)	ERCC3 (W310* +1 more)	Duplication (nonsense)	Trichothiodystrophy 2, photosensitive +3 more	GPathogenic/Likely pathogenic
Select item 1219122	NM_000122.2(ERCC3):c.1027+269G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1507046	NM_000122.2(ERCC3):c.1004C>T (p.Ser335Leu)	ERCC3 (S271L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520987	NM_000122.2(ERCC3):c.890T>C (p.Phe297Ser)	ERCC3 (F233S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134128	NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)	ERCC3 (R283C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1245290	NM_000122.2(ERCC3):c.823-108G>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212492	NM_000122.2(ERCC3):c.823-177G>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1352226	NM_000122.2(ERCC3):c.694A>G (p.Thr232Ala)	ERCC3 (T232A +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 1801982	NM_000122.2(ERCC3):c.659T>G (p.Ile220Ser)	ERCC3 (I156S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512671	NM_000122.2(ERCC3):c.658-7C>G	ERCC3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1250480	NM_000122.2(ERCC3):c.658-24G>C	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311031	NM_000122.2(ERCC3):c.593G>A (p.Arg198His)	ERCC3 (R134H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271379	NM_000122.2(ERCC3):c.472-99G>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218862	NM_000122.2(ERCC3):c.472-200G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239547	NM_000122.2(ERCC3):c.472-293G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268352	NM_000122.2(ERCC3):c.471+186T>C	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234691	NM_000122.2(ERCC3):c.471+118G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248018	NM_000122.2(ERCC3):c.471+52A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 331091	NM_000122.2(ERCC3):c.385G>A (p.Val129Ile)	ERCC3 (V129I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 265515	NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	ERCC3 (R109* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum +3 more	GPathogenic/Likely pathogenic
Select item 331094	NM_000122.2(ERCC3):c.254T>G (p.Phe85Cys)	ERCC3 (F85C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1226976	NM_000122.2(ERCC3):c.235-61A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188785	NM_000122.2(ERCC3):c.235-215A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1306275	NM_000122.2(ERCC3):c.31A>G (p.Lys11Glu)	ERCC3 (K11E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1190918	NM_000122.2(ERCC3):c.29-87C>T	ERCC3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 331098	NM_000122.1(ERCC3):c.-69C>T	ERCC3	Single nucleotide variant	Xeroderma pigmentosum group B +1 more	GBenign/Likely benign
Select item 1253615	NC_000002.12:g.127294421A>T	ERCC3	Single nucleotide variant	not provided	GBenign

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Items: 67