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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1426651	NM_003190.5(TAPBP):c.1297G>A (p.Ala433Thr)	TAPBP (A433T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 851044	NM_003190.5(TAPBP):c.1196C>A (p.Thr399Asn)	TAPBP (T312N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 846641	NM_003190.5(TAPBP):c.1103C>T (p.Pro368Leu)	TAPBP (P281L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1944022	NM_003190.5(TAPBP):c.1058G>A (p.Arg353His)	TAPBP (R353H +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 2334072	NM_003190.5(TAPBP):c.974G>T (p.Gly325Val)	TAPBP (G238V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 965547	NM_003190.5(TAPBP):c.907C>T (p.Arg303Trp)	TAPBP (R303W +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1010980	NM_003190.5(TAPBP):c.737C>T (p.Pro246Leu)	TAPBP (P159L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 3324390	NM_003190.5(TAPBP):c.659C>T (p.Ala220Val)	TAPBP (A220V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1353085	NM_003190.5(TAPBP):c.622C>T (p.Arg208Cys)	TAPBP (R208C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 835970	NM_003190.5(TAPBP):c.574G>A (p.Ala192Thr)	TAPBP (A105T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 534737	NM_003190.5(TAPBP):c.563C>T (p.Thr188Ile)	TAPBP (T188I +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 648764	NM_003190.5(TAPBP):c.556C>T (p.Pro186Ser)	TAPBP (P99S +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 837943	NM_003190.5(TAPBP):c.373A>G (p.Met125Val)	TAPBP (M125V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1430599	NM_003190.5(TAPBP):c.344G>C (p.Cys115Ser)	TAPBP (C115S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 936770	NM_003190.5(TAPBP):c.269A>G (p.His90Arg)	TAPBP (H90R)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency +1 more	GUncertain significance
Select item 1364962	NM_003190.5(TAPBP):c.203T>C (p.Val68Ala)	TAPBP (V68A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2228882	NM_003190.5(TAPBP):c.158A>C (p.Glu53Ala)	TAPBP (E53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324389	NM_003190.5(TAPBP):c.155G>A (p.Gly52Glu)	TAPBP (G52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623630	NM_003190.5(TAPBP):c.152C>A (p.Pro51Gln)	TAPBP (P51Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173818	NM_003190.5(TAPBP):c.56C>T (p.Ser19Leu)	TAPBP (S19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20