"Baylor Genetics"[submitter] AND "XPA"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2679635	NM_000380.4(XPA):c.743del (p.Pro248fs)	XPA (P206fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely 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 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 2501071	NM_000380.4(XPA):c.674-2A>G	XPA	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum group A +1 more	GConflicting classifications of pathogenicity
Select item 374933	NM_000380.4(XPA):c.648_649del (p.Lys217fs)	XPA (K217fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
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 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 3240745	NM_000380.4(XPA):c.601_605del (p.Glu201fs)	XPA (E159fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 2679633	NM_000380.4(XPA):c.574G>T (p.Glu192Ter)	XPA (E150* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 852033	NM_000380.4(XPA):c.555+8A>G	XPA	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group A +3 more	GPathogenic
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 1012622	NM_000380.4(XPA):c.545_546dup (p.Lys183Ter)	XPA (K141* +1 more)	Duplication (nonsense +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic/Likely pathogenic
Select item 1457433	NM_000380.4(XPA):c.540_541del (p.Tyr181fs)	XPA (Y139fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 3240743	NM_000380.4(XPA):c.489del (p.Lys163fs)	XPA (K121fs +1 more)	Deletion (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 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 264684	NM_000380.4(XPA):c.390-1G>C	XPA	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum group A +2 more	GPathogenic
Select item 3240747	NM_000380.4(XPA):c.389+1G>T	XPA	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum group A	GPathogenic
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 997	NM_000380.4(XPA):c.348T>A (p.Tyr116Ter)	XPA (Y116* +1 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum group A	GPathogenic
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 2679634	NM_000380.4(XPA):c.322del (p.Cys108fs)	XPA (C108fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 3240746	NM_000380.4(XPA):c.283+1G>A	XPA	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 2735305	NM_000380.4(XPA):c.283G>A (p.Gly95Arg)	XPA (G95R +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic
Select item 524023	NM_000380.4(XPA):c.266_267dup (p.Val90fs)	XPA (V90fs +1 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic
Select item 3240744	NM_000380.4(XPA):c.246del (p.Glu83fs)	XPA (E41fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum group A	GLikely pathogenic
Select item 2884996	NM_000380.4(XPA):c.173-2A>G	XPA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	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 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

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Items: 38