ClinVar for MedGen (Select 155488) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674622	NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]	ERCC8	Indel	Cockayne syndrome type 1	GPathogenic
Select item 2672303	Single allele	DEPDC1B, ELOVL7 +1 more	Deletion	Cockayne syndrome type 1	GPathogenic
Select item 2440094	NM_000082.4(ERCC8):c.427del (p.Thr143fs)	ERCC8 (T143fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726886	NM_000082.4(ERCC8):c.592del (p.Tyr198fs)	ERCC8 (Y140fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1726034	NM_000082.4(ERCC8):c.274dup (p.Arg92fs)	ERCC8 (R34fs +1 more)	Duplication (frameshift variant +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1725733	NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs)	ERCC8 (T154fs +1 more)	Microsatellite (frameshift variant +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1724342	NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)	ERCC8 (Q129* +2 more)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1705927	NM_000082.4(ERCC8):c.572_574del (p.Ala191del)	ERCC8 (A133del +2 more)	Deletion (inframe_indel +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1705925	NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)	ERCC8 (S117P +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 1109409	NM_000082.4(ERCC8):c.390T>C (p.Asn130=)	ERCC8, ERCC8-AS1 (Y5H)	Single nucleotide variant (synonymous variant +1 more)	Cockayne syndrome type 1 +2 more	GLikely benign
Select item 984265	NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)	ERCC8 (L32*)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984264	NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)	ERCC8 (S3* +1 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 984263	NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter)	ERCC8, ERCC8-AS1 (Y100* +1 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984262	NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)	ERCC8, ERCC8-AS1 (Q133* +2 more)	Single nucleotide variant (nonsense +1 more)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984261	NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter)	ERCC8 (W156* +2 more)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984143	NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter)	ERCC8 (C148* +2 more)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GLikely pathogenic
Select item 984142	NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter)	ERCC8 (Q173* +2 more)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GLikely pathogenic
Select item 974940	NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)	ERCC8 (I10F +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1	GPathogenic
Select item 973767	NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala)	ERCC8 (D113A +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 907761	NM_000082.4(ERCC8):c.-33C>T	ERCC8	Single nucleotide variant (5 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 907715	NM_000082.4(ERCC8):c.1159G>C (p.Asp387His)	ERCC8 (D329H +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GUncertain significance
Select item 907714	NM_000082.4(ERCC8):c.*7T>A	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 907713	NM_000082.4(ERCC8):c.*113A>G	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 907712	NM_000082.4(ERCC8):c.*116T>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906768	NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr)	ERCC8, ERCC8-AS1 (S101T +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1	GUncertain significance
Select item 906767	NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn)	ERCC8, ERCC8-AS1 (D70N +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906766	NM_000082.4(ERCC8):c.399+3A>G	ERCC8, ERCC8-AS1	Single nucleotide variant (intron variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906765	NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys)	ERCC8 (F82C +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1	GUncertain significance
Select item 906687	NM_000082.4(ERCC8):c.*377C>G	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906686	NM_000082.4(ERCC8):c.*458T>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GBenign
Select item 906685	NM_000082.4(ERCC8):c.*583T>C	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GBenign
Select item 906684	NM_000082.4(ERCC8):c.*602C>G	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 906683	NM_000082.4(ERCC8):c.*644G>A	ERCC8	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 905171	NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp)	ERCC8 (G162D +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GUncertain significance
Select item 905170	NM_000082.4(ERCC8):c.590G>A (p.Arg197His)	ERCC8 (R44H +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GUncertain significance
Select item 904373	NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn)	ERCC8 (S138N +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1 +1 more	GUncertain significance
Select item 904372	NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn)	ERCC8 (S151N +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1 +1 more	GUncertain significance
Select item 904371	NM_000082.4(ERCC8):c.945C>T (p.Thr315=)	ERCC8	Single nucleotide variant (synonymous variant)	Cockayne syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 870559	NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp)	ERCC8 (G62D +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1	GUncertain significance
Select item 838966	NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)	ERCC8 (R115* +2 more)	Single nucleotide variant (nonsense)	UV-sensitive syndrome 2 +3 more	GPathogenic/Likely pathogenic
Select item 807412	NM_000082.4(ERCC8):c.481+1G>C	ERCC8	Single nucleotide variant (intron variant +1 more)	Cockayne syndrome type 1	GPathogenic
Select item 765809	NM_000082.4(ERCC8):c.1023A>G (p.Val341=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 702384	NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)	ERCC8 (A161P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 701917	NM_000082.4(ERCC8):c.504A>G (p.Val168=)	ERCC8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 645783	NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)	ERCC8 (V103I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 640063	NM_000082.4(ERCC8):c.650del (p.Arg217fs)	ERCC8 (R159fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 635323	NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)	ERCC8, ERCC8-AS1 (W49* +1 more)	Duplication (nonsense +1 more)	Cockayne syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 617678	NC_000005.9:g.60164820_60244992del	ERCC8, NDUFAF2	Deletion	Cockayne syndrome type 1	GPathogenic
Select item 590788	NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)	ERCC8 (G257R +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome +3 more	GPathogenic/Likely pathogenic
Select item 586967	NM_000082.4(ERCC8):c.78-2A>T	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GPathogenic
Select item 558687	NM_000082.4(ERCC8):c.313_314del (p.Val105fs)	ERCC8, ERCC8-AS1 (V105fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 558597	NM_000082.4(ERCC8):c.928del (p.Val310fs)	ERCC8 (V310fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 558564	NM_000082.4(ERCC8):c.551-1G>A	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GPathogenic
Select item 558388	NM_000082.4(ERCC8):c.1122+1G>A	ERCC8	Single nucleotide variant (splice donor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 558214	NM_000082.4(ERCC8):c.843+1G>T	ERCC8	Single nucleotide variant (splice donor variant)	Cockayne syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 558212	NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)	ERCC8, NDUFAF2 (Q5*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GUncertain significance
Select item 557964	NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter)	ERCC8, NDUFAF2 (Q37*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 1	GUncertain significance
Select item 557955	NM_000082.4(ERCC8):c.1042-1G>A	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 557143	NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)	ERCC8 (G396fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 556960	NM_000082.4(ERCC8):c.1006del (p.Thr336fs)	ERCC8 (T278fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 556753	NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del)	ERCC8 (E395del +2 more)	Microsatellite (inframe_deletion)	Cockayne syndrome type 1	GUncertain significance
Select item 556621	NM_000082.4(ERCC8):c.562_564del (p.Glu188del)	ERCC8 (E188del +2 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 555817	NM_000082.4(ERCC8):c.1137del (p.Gln380fs)	ERCC8 (Q322fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 554811	NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)	ERCC8, ERCC8-AS1 (I6fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 554496	NM_000082.4(ERCC8):c.679del (p.Asp227fs)	ERCC8 (D227fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554440	NM_000082.4(ERCC8):c.173+1G>A	ERCC8	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554190	NM_000082.4(ERCC8):c.276-2A>G	ERCC8, ERCC8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 554003	NM_000082.4(ERCC8):c.1125del (p.Thr376fs)	ERCC8 (T376fs +2 more)	Deletion (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 553300	NM_000082.4(ERCC8):c.600dup (p.Ile201fs)	ERCC8 (I48fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553277	NM_000082.4(ERCC8):c.77+2T>G	ERCC8	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 553264	NM_000082.4(ERCC8):c.482-2A>G	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1 +1 more	GLikely pathogenic
Select item 552365	NM_000082.4(ERCC8):c.719-2A>G	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 551952	NM_000082.4(ERCC8):c.439CAT[1] (p.His148del)	ERCC8 (H148del +1 more)	Microsatellite (inframe_deletion +1 more)	Cockayne syndrome type 1	GUncertain significance
Select item 551594	NM_000082.4(ERCC8):c.1042-2A>G	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1 +2 more	GPathogenic/Likely pathogenic
Select item 551549	NM_000082.4(ERCC8):c.1042-1G>C	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 551068	NM_000082.4(ERCC8):c.618-1G>A	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1 +1 more	GPathogenic
Select item 550365	NM_000082.4(ERCC8):c.719-2A>T	ERCC8	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 1	GLikely pathogenic
Select item 550008	NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs)	ERCC8 (Y308fs +2 more)	Duplication (frameshift variant)	Cockayne syndrome type 1	GUncertain significance
Select item 550005	NM_000082.4(ERCC8):c.399+1G>A	ERCC8, ERCC8-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 546240	NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)	ERCC8 (D338N +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 430631	NM_000082.4(ERCC8):c.173+1158A>G	ERCC8	Single nucleotide variant (intron variant)	Cockayne syndrome type 1	GBenign
Select item 430102	NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)	ERCC8, ERCC8-AS1 (R41fs +1 more)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 424544	NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter)	ERCC8 (R218* +2 more)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 419231	NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)	ERCC8, NDUFAF2 (Y38*)	Single nucleotide variant (nonsense)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 397640	NM_000082.4(ERCC8):c.173+1119G>C	ERCC8	Single nucleotide variant (intron variant)	Cockayne syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 371025	NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)	ERCC8, ERCC8-AS1 (Y100* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 354032	NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)	ERCC8, NDUFAF2 (D6E)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 354025	NM_000082.4(ERCC8):c.-25G>C	ERCC8	Single nucleotide variant (5 prime UTR variant)	Cockayne syndrome type 1	GUncertain significance
Select item 354024	NM_000082.4(ERCC8):c.-23T>G	ERCC8	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 354023	NM_000082.4(ERCC8):c.66G>A (p.Glu22=)	ERCC8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354022	NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly)	ERCC8 (D50G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354021	NM_000082.4(ERCC8):c.173+9A>G	ERCC8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354020	NM_000082.4(ERCC8):c.311C>G (p.Thr104Ser)	ERCC8, ERCC8-AS1 (T104S +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1	GUncertain significance
Select item 354019	NM_000082.4(ERCC8):c.409G>A (p.Val137Ile)	ERCC8 (V137I +1 more)	Single nucleotide variant (missense variant +1 more)	Cockayne syndrome type 1 +1 more	GUncertain significance
Select item 354018	NM_000082.4(ERCC8):c.430G>A (p.Val144Ile)	ERCC8 (V144I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 354017	NM_000082.4(ERCC8):c.472T>C (p.Leu158=)	ERCC8	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354016	NM_000082.4(ERCC8):c.551-10G>T	ERCC8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354015	NM_000082.4(ERCC8):c.812T>C (p.Leu271Pro)	ERCC8 (L271P +2 more)	Single nucleotide variant (missense variant)	Cockayne syndrome type 1	GUncertain significance
Select item 354014	NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser)	ERCC8 (N357S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 354013	NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu)	ERCC8 (V369L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign

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