C0268135[trait identifier] AND "Counsyl"[submitter] - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558453	NM_000380.4(XPA):c.817dup (p.Met273fs)	XPA (M231fs +1 more)	Duplication (frameshift variant +1 more)	not specified +1 more	GUncertain significance
Select item 558323	NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer)	XPA	Microsatellite (nonsense +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 523608	NM_000380.4(XPA):c.772_785del (p.Arg258fs)	XPA (R216fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558017	NM_000380.4(XPA):c.774dup (p.Lys259Ter)	XPA (K259* +1 more)	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553122	NM_000380.4(XPA):c.756AGA[1] (p.Glu253del)	XPA (E253del +1 more)	Microsatellite (non-coding transcript variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 552532	NM_000380.4(XPA):c.732dup (p.Glu245Ter)	XPA (E245* +1 more)	Duplication (nonsense +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic/Likely pathogenic
Select item 364088	NM_000380.4(XPA):c.731A>G (p.His244Arg)	XPA (H244R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555471	NM_000380.4(XPA):c.690AAG[1] (p.Arg231del)	XPA (R231del +1 more)	Microsatellite (inframe_deletion +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 135463	NM_000380.4(XPA):c.683G>A (p.Arg228Gln)	XPA (R228Q +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 995	NM_000380.4(XPA):c.682C>T (p.Arg228Ter)	XPA (R186*)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum group A +2 more	GPathogenic
Select item 554689	NM_000380.4(XPA):c.677T>A (p.Leu226Ter)	XPA (L226* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic/Likely pathogenic
Select item 558173	NM_000380.4(XPA):c.673+2T>C	XPA	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 553445	NM_000380.4(XPA):c.666dup (p.Val223fs)	XPA (V181fs +1 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum group A +2 more	GPathogenic/Likely pathogenic
Select item 557894	NM_000380.4(XPA):c.642_645dup (p.Gln216fs)	XPA (Q216fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553816	NM_000380.4(XPA):c.646C>T (p.Gln216Ter)	XPA (Q216* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554411	NM_000380.4(XPA):c.631dup (p.Arg211fs)	XPA (R169fs +1 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 551809	NM_000380.4(XPA):c.631C>T (p.Arg211Ter)	XPA (R211* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 996	NM_000380.4(XPA):c.619C>T (p.Arg207Ter)	XPA (R207* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum +2 more	GPathogenic
Select item 555106	NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup)	XPA	Duplication (inframe_insertion +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 556331	NM_000380.4(XPA):c.601_602del (p.Glu201fs)	XPA (E159fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558307	NM_000380.4(XPA):c.599T>G (p.Leu200Ter)	XPA (L200* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 555885	NM_000380.4(XPA):c.572_573del (p.Leu191fs)	XPA (L149fs +1 more)	Deletion (non-coding transcript variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 135458	NM_000380.4(XPA):c.571C>G (p.Leu191Val)	XPA (L191V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558468	NM_000380.4(XPA):c.563del (p.Lys188fs)	XPA (K146fs +1 more)	Deletion (non-coding transcript variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 553255	NM_000380.4(XPA):c.555+2T>A	XPA	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 555159	NM_000380.4(XPA):c.555+1G>A	XPA	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 550646	NM_000380.4(XPA):c.555G>C (p.Gln185His)	XPA (Q185H +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +3 more	GPathogenic/Likely pathogenic
Select item 550908	NM_000380.4(XPA):c.548del (p.Lys183fs)	XPA (K183fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 557674	NM_000380.4(XPA):c.532dup (p.Met178fs)	XPA (M178fs +1 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 555550	NM_000380.4(XPA):c.476_477del (p.Glu159fs)	XPA (E117fs +1 more)	Microsatellite (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 555021	NM_000380.4(XPA):c.472dup (p.Arg158fs)	XPA (R158fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554759	NM_000380.4(XPA):c.459_460del (p.Cys153_Asp154delinsTer)	XPA	Microsatellite (nonsense +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic/Likely pathogenic
Select item 553992	NM_000380.4(XPA):c.451A>T (p.Lys151Ter)	XPA (K151* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum group A	GPathogenic/Likely pathogenic
Select item 551771	NM_000380.4(XPA):c.439_441del (p.Glu147del)	XPA (E147del +1 more)	Deletion (inframe_deletion +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 555051	NM_000380.4(XPA):c.428_429del (p.Glu143fs)	XPA (E101fs +1 more)	Microsatellite (frameshift variant +1 more)	Xeroderma pigmentosum +2 more	GPathogenic/Likely pathogenic
Select item 558428	NM_000380.4(XPA):c.397GAT[1] (p.Asp134del)	XPA (D134del +1 more)	Microsatellite (inframe_deletion +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 557407	NM_000380.4(XPA):c.391del (p.Asp131fs)	XPA (D89fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 557410	NM_000380.4(XPA):c.389+1G>A	XPA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551153	NM_000380.4(XPA):c.389G>A (p.Arg130Lys)	XPA (R130K +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 553368	NM_000380.4(XPA):c.378T>G (p.Cys126Trp)	XPA (C126W +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 994	NM_000380.4(XPA):c.349_353del (p.Leu117fs)	XPA (L117fs +1 more)	Microsatellite (frameshift variant +1 more)	Xeroderma pigmentosum group A +2 more	GPathogenic
Select item 556638	NM_000380.4(XPA):c.344_346del (p.Ser115del)	XPA (S115del +1 more)	Deletion (inframe_deletion +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 553390	NM_000380.4(XPA):c.338_339del (p.Met113fs)	XPA (M113fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic/Likely pathogenic
Select item 557900	NM_000380.4(XPA):c.331G>T (p.Glu111Ter)	XPA (E111* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 430367	NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	XPA (C108Y +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +2 more	GConflicting classifications of pathogenicity
Select item 993	NM_000380.4(XPA):c.323G>T (p.Cys108Phe)	XPA (C108F +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A	GConflicting classifications of pathogenicity
Select item 554712	NM_000380.4(XPA):c.283+1_283+6del	XPA	Deletion (splice donor variant)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 555172	NM_000380.4(XPA):c.238GAA[3] (p.Glu83_Glu84del)	XPA	Microsatellite (inframe_deletion +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 554693	NM_000380.4(XPA):c.237_242del (p.Glu83_Glu84del)	XPA	Deletion (inframe_deletion +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 555434	NM_000380.4(XPA):c.235G>T (p.Glu79Ter)	XPA (E79* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 555884	NM_000380.4(XPA):c.197del (p.Pro66fs)	XPA (P24fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 556927	NM_000380.4(XPA):c.172+1G>T	XPA	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 552016	NM_000380.4(XPA):c.172+1G>A	XPA	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum group A +1 more	GLikely pathogenic
Select item 555955	NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del)	XPA	Deletion (inframe_deletion +3 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 556808	NM_000380.4(XPA):c.-4_26del (p.Met1_Pro9del)	XPA	Deletion (inframe_deletion +3 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 551362	NM_000380.4(XPA):c.10del (p.Ala4fs)	XPA (A4fs)	Deletion (frameshift variant +2 more)	Xeroderma pigmentosum group A +1 more	GPathogenic/Likely pathogenic
Select item 551841	NM_000380.4(XPA):c.2T>C (p.Met1Thr)	XPA (M1T)	Single nucleotide variant (missense variant +3 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 364091	NM_000380.4(XPA):c.-43G>A	XPA	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum group A	GUncertain significance
Select item 556398	NM_000380.3(XPA):c.-72_-47del26	XPA	Deletion	Xeroderma pigmentosum group A	GUncertain significance
Select item 364092	NM_000380.3(XPA):c.-66T>G	XPA	Single nucleotide variant	Xeroderma pigmentosum group A	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60