ClinVar for Gene (Select 2071) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 593

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3338266	NM_000122.2(ERCC3):c.2065-1G>C	ERCC3	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum group B	GLikely pathogenic
Select item 3276294	NM_000122.2(ERCC3):c.757G>A (p.Glu253Lys)	ERCC3 (E253K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276293	NM_000122.2(ERCC3):c.1291A>G (p.Lys431Glu)	ERCC3 (K431E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255224	NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)	ERCC3 (Q190* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum group B	GPathogenic
Select item 3250468	NM_000122.2(ERCC3):c.2275_2283del (p.Met759_Tyr761del)	ERCC3	Deletion (inframe_deletion)	Xeroderma pigmentosum group B	GUncertain significance
Select item 3250466	NM_000122.2(ERCC3):c.1934G>A (p.Arg645Gln)	ERCC3 (R581Q +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B	GUncertain significance
Select item 3247457	NC_000002.11:g.(?_128046216)_(128051657_?)del	ERCC3	Deletion	not provided	GPathogenic
Select item 3090107	NM_000122.2(ERCC3):c.935C>T (p.Pro312Leu)	ERCC3 (P248L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090105	NM_000122.2(ERCC3):c.157G>A (p.Val53Met)	ERCC3 (V53M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3090104	NM_000122.2(ERCC3):c.1240G>A (p.Gly414Ser)	ERCC3 (G414S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090103	NM_000122.2(ERCC3):c.119C>T (p.Ser40Leu)	ERCC3 (S40L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3061747	NM_000122.2(ERCC3):c.1628C>G (p.Ala543Gly)	ERCC3 (A479G +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 2, photosensitive	GUncertain significance
Select item 3029188	NM_000122.2(ERCC3):c.123G>A (p.Ala41=)	ERCC3	Single nucleotide variant (synonymous variant +1 more)	ERCC3-related disorder	GLikely benign
Select item 3022574	NM_000122.2(ERCC3):c.28+17G>C	ERCC3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3022260	NM_000122.2(ERCC3):c.126G>A (p.Ala42=)	ERCC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020772	NM_000122.2(ERCC3):c.2253T>G (p.Ser751=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011929	NM_000122.2(ERCC3):c.2022C>G (p.Thr674=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011445	NM_000122.2(ERCC3):c.1528-15C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004842	NM_000122.2(ERCC3):c.1968T>C (p.Asn656=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997598	NM_000122.2(ERCC3):c.1946-8dup	ERCC3	Duplication (intron variant)	not provided	GBenign
Select item 2997401	NM_000122.2(ERCC3):c.234+4_234+7dup	ERCC3	Duplication (intron variant)	not provided	GLikely benign
Select item 2988599	NM_000122.2(ERCC3):c.1977C>T (p.Phe659=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982186	NM_000122.2(ERCC3):c.576_583del (p.Val193fs)	ERCC3 (V129fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2982051	NM_000122.2(ERCC3):c.990C>T (p.Asn330=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981061	NM_000122.2(ERCC3):c.1528-16_1528-8del	ERCC3	Deletion (intron variant)	not provided	GLikely benign
Select item 2975453	NM_000122.2(ERCC3):c.1730+11A>C	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973291	NM_000122.2(ERCC3):c.948C>T (p.Leu316=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970952	NM_000122.2(ERCC3):c.1167C>A (p.Ile389=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907783	NM_000122.2(ERCC3):c.15C>T (p.Asp5=)	ERCC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893875	NM_000122.2(ERCC3):c.1842G>A (p.Ser614=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889801	NM_000122.2(ERCC3):c.1116G>A (p.Glu372=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881011	NM_000122.2(ERCC3):c.426G>A (p.Lys142=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879083	NM_000122.2(ERCC3):c.2259C>T (p.Ala753=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878865	NM_000122.2(ERCC3):c.471+20A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878546	NM_000122.2(ERCC3):c.261A>G (p.Glu87=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877474	NM_000122.2(ERCC3):c.1341A>T (p.Pro447=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2874638	NM_000122.2(ERCC3):c.29-19C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871731	NM_000122.2(ERCC3):c.2065-16G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2869719	NM_000122.2(ERCC3):c.1605C>G (p.Thr535=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869445	NM_000122.2(ERCC3):c.1854G>C (p.Pro618=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866283	NM_000122.2(ERCC3):c.1828-7T>C	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863304	NM_000122.2(ERCC3):c.549T>C (p.Asp183=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862317	NM_000122.2(ERCC3):c.498C>G (p.Val166=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856391	NM_000122.2(ERCC3):c.956A>G (p.Tyr319Cys)	ERCC3 (Y255C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842263	NM_000122.2(ERCC3):c.522-3C>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2832586	NM_000122.2(ERCC3):c.1827+10G>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832554	NM_000122.2(ERCC3):c.971del (p.Leu324fs)	ERCC3 (L260fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2829712	NM_000122.2(ERCC3):c.363C>G (p.Tyr121Ter)	ERCC3 (Y121* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2827906	NM_000122.2(ERCC3):c.1946-9T>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824828	NM_000122.2(ERCC3):c.2262C>T (p.Asp754=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818168	NM_000122.2(ERCC3):c.198G>A (p.Pro66=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816957	NM_000122.2(ERCC3):c.832G>T (p.Glu278Ter)	ERCC3 (E278* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2810131	NM_000122.2(ERCC3):c.1908A>G (p.Glu636=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807687	NM_000122.2(ERCC3):c.1730+17T>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804402	NM_000122.2(ERCC3):c.2140C>G (p.Gln714Glu)	ERCC3 (Q650E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800937	NM_000122.2(ERCC3):c.177G>A (p.Lys59=)	ERCC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787734	NM_000122.2(ERCC3):c.146C>G (p.Ser49Ter)	ERCC3 (S49*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2786538	NM_000122.2(ERCC3):c.472-12C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765665	NM_000122.2(ERCC3):c.1946-18T>C	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762837	NM_000122.2(ERCC3):c.1685_1686del (p.Ala562fs)	ERCC3 (A498fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2755393	NM_000122.2(ERCC3):c.338dup (p.His114fs)	ERCC3 (H114fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2752931	NM_000122.2(ERCC3):c.1329G>A (p.Val443=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750311	NM_000122.2(ERCC3):c.150C>T (p.Gly50=)	ERCC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2744644	NM_000122.2(ERCC3):c.96C>T (p.Asn32=)	ERCC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717993	NM_000122.2(ERCC3):c.133C>T (p.Gln45Ter)	ERCC3 (Q45*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2700449	NM_000122.2(ERCC3):c.2082T>C (p.Ala694=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696647	NM_000122.2(ERCC3):c.229del (p.Trp77fs)	ERCC3 (W77fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2651330	NM_000122.2(ERCC3):c.1343-280C>T	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2651329	NM_000122.2(ERCC3):c.2064G>C (p.Lys688Asn)	ERCC3 (K624N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651328	NM_000122.2(ERCC3):c.2136C>T (p.Leu712=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618757	NM_000122.2(ERCC3):c.1652A>G (p.His551Arg)	ERCC3 (H487R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543574	NM_000122.2(ERCC3):c.1694T>C (p.Val565Ala)	ERCC3 (V501A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445410	NM_000122.2(ERCC3):c.1769T>G (p.Met590Arg)	ERCC3 (M526R +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445379	NM_000122.2(ERCC3):c.466A>G (p.Ile156Val)	ERCC3 (I156V +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445295	NM_000122.2(ERCC3):c.36G>C (p.Lys12Asn)	ERCC3 (K12N)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2445294	NM_000122.2(ERCC3):c.1589G>A (p.Arg530Gln)	ERCC3 (R466Q +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 2445243	NM_000122.2(ERCC3):c.1267G>A (p.Ala423Thr)	ERCC3 (A359T +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2422856	NC_000002.11:g.(?_127806102)_(129076137_?)del	AMMECR1L, BIN1 +14 more	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2422382	NC_000002.11:g.(?_128045217)_(128046966_?)del	ERCC3	Deletion	not provided	GLikely pathogenic
Select item 2422381	NC_000002.11:g.(?_128015172)_(128051657_?)dup	ERCC3	Duplication	not provided	GUncertain significance
Select item 2422380	NC_000002.11:g.(?_127451420)_(129076137_?)del	AMMECR1L, BIN1 +15 more	Deletion	not provided	GPathogenic
Select item 2420588	NM_000122.2(ERCC3):c.1203C>T (p.Ile401=)	ERCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419465	NM_000122.2(ERCC3):c.1962G>C (p.Glu654Asp)	ERCC3 (E590D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414982	NM_000122.2(ERCC3):c.1946-6C>A	ERCC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2411775	NM_000122.2(ERCC3):c.686G>A (p.Gly229Glu)	ERCC3 (G165E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341753	NM_000122.2(ERCC3):c.1808A>C (p.Asn603Thr)	ERCC3 (N539T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253809	NM_000122.2(ERCC3):c.265T>G (p.Phe89Val)	ERCC3 (F89V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227273	NM_000122.2(ERCC3):c.231G>T (p.Trp77Cys)	ERCC3 (W13C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206581	NM_000122.2(ERCC3):c.1213G>A (p.Val405Ile)	ERCC3 (V341I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2192604	NM_000122.2(ERCC3):c.2303C>G (p.Ala768Gly)	ERCC3 (A704G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192134	NM_000122.2(ERCC3):c.768C>G (p.Asp256Glu)	ERCC3 (D192E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188812	NM_000122.2(ERCC3):c.1735del (p.Tyr579fs)	ERCC3 (Y579fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2183605	NM_000122.2(ERCC3):c.1527+3A>G	ERCC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2182394	NM_000122.2(ERCC3):c.2098G>T (p.Asp700Tyr)	ERCC3 (D700Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180659	NM_000122.2(ERCC3):c.1270G>A (p.Glu424Lys)	ERCC3 (E360K +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 6