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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181729	NM_002486.5(NCBP1):c.1202G>A (p.Arg401His)	NCBP1, XPA (R211H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328322	NM_002486.5(NCBP1):c.1318G>T (p.Asp440Tyr)	NCBP1, XPA (D250Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610353	NM_002486.5(NCBP1):c.1423G>A (p.Ala475Thr)	NCBP1, XPA (A105T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246987	NM_002486.5(NCBP1):c.1658A>G (p.His553Arg)	NCBP1, XPA (H363R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329489	NM_002486.5(NCBP1):c.1732G>C (p.Glu578Gln)	NCBP1, XPA (E578Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181745	NM_002486.5(NCBP1):c.1817A>G (p.Asp606Gly)	NCBP1, XPA (D539G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396345	NM_002486.5(NCBP1):c.1888C>T (p.Arg630Cys)	NCBP1, XPA (R440C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335454	NM_002486.5(NCBP1):c.2048G>A (p.Arg683Lys)	NCBP1, XPA (R493K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591698	NM_002486.5(NCBP1):c.2158A>G (p.Ile720Val)	NCBP1, XPA (I530V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181759	NM_002486.5(NCBP1):c.2179C>G (p.Arg727Gly)	NCBP1, XPA (R537G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460151	NM_002486.5(NCBP1):c.2326C>A (p.Pro776Thr)	NCBP1, XPA (P709T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531612	NM_000380.4(XPA):c.789G>A (p.Met263Ile)	XPA (M263I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191193	NM_000380.4(XPA):c.558T>G (p.Ile186Met)	XPA (I144M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 852033	NM_000380.4(XPA):c.555+8A>G	XPA	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 2242179	NM_000380.4(XPA):c.314G>A (p.Cys105Tyr)	XPA (C105Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445256	NM_000380.4(XPA):c.292A>G (p.Met98Val)	XPA (M56V +1 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 2735304	NM_000380.4(XPA):c.288del (p.Val97fs)	XPA (V97fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2242642	NM_000380.4(XPA):c.266A>C (p.Lys89Thr)	XPA (K89T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546294	NM_000380.4(XPA):c.262G>A (p.Gly88Arg)	XPA (G46R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538193	NM_000380.4(XPA):c.220G>A (p.Gly74Ser)	XPA (G32S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191192	NM_000380.4(XPA):c.206T>C (p.Ile69Thr)	XPA (I69T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191191	NM_000380.4(XPA):c.169G>A (p.Gly57Arg)	XPA (G57R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3191190	NM_000380.4(XPA):c.107T>G (p.Leu36Arg)	XPA (L36R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 23