"Ambry Genetics"[submitter] AND "TAP1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2289363	NM_000593.6(TAP1):c.2215A>G (p.Met739Val)	PSMB8-AS1, TAP1 (M739V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2068034	NM_000593.6(TAP1):c.2213C>T (p.Ala738Val)	PSMB8-AS1, TAP1 (A738V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency +1 more	GUncertain significance
Select item 953961	NM_000593.6(TAP1):c.2167G>T (p.Gly723Trp)	PSMB8-AS1, TAP1 (G522W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency +1 more	GUncertain significance
Select item 1449798	NM_000593.6(TAP1):c.2071C>T (p.Arg691Trp)	PSMB8-AS1, TAP1 (R691W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1493409	NM_000593.6(TAP1):c.2017C>A (p.Leu673Met)	TAP1 (L673M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1980207	NM_000593.6(TAP1):c.1975C>T (p.Arg659Trp)	TAP1 (R659W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3173812	NM_000593.6(TAP1):c.1918G>A (p.Gly640Arg)	TAP1 (G640R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608229	NM_000593.6(TAP1):c.1916C>T (p.Ala639Val)	TAP1 (A438V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610684	NM_000593.6(TAP1):c.1906G>A (p.Val636Ile)	TAP1 (V636I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547223	NM_000593.6(TAP1):c.1846G>A (p.Ala616Thr)	TAP1 (A415T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279644	NM_000593.6(TAP1):c.1804G>A (p.Gly602Ser)	TAP1 (G401S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520741	NM_000593.6(TAP1):c.1798G>T (p.Ala600Ser)	TAP1 (A399S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173811	NM_000593.6(TAP1):c.1768G>A (p.Val590Ile)	TAP1 (V590I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281634	NM_000593.6(TAP1):c.1747G>A (p.Ala583Thr)	TAP1 (A583T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 581678	NM_000593.6(TAP1):c.1723C>T (p.Arg575Cys)	TAP1 (R635C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 855753	NM_000593.6(TAP1):c.1594G>A (p.Glu532Lys)	TAP1 (E592K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2254469	NM_000593.6(TAP1):c.1378G>A (p.Val460Ile)	TAP1 (V259I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 659028	NM_000593.6(TAP1):c.1354A>G (p.Met452Val)	TAP1 (M251V +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 1417928	NM_000593.6(TAP1):c.1255G>A (p.Gly419Ser)	TAP1 (G218S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2548066	NM_000593.6(TAP1):c.1243A>G (p.Thr415Ala)	TAP1 (T214A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475213	NM_000593.6(TAP1):c.1220C>G (p.Ala407Gly)	TAP1 (A206G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 857517	NM_000593.6(TAP1):c.1115C>T (p.Ser372Leu)	TAP1 (S171L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 834634	NM_000593.6(TAP1):c.1070G>A (p.Arg357Gln)	TAP1 (R156Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3324385	NM_000593.6(TAP1):c.1028A>G (p.Lys343Arg)	TAP1 (K343R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324386	NM_000593.6(TAP1):c.1006C>T (p.Pro336Ser)	TAP1 (P135S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408867	NM_000593.6(TAP1):c.818C>T (p.Thr273Met)	TAP1 (T273M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1005341	NM_000593.6(TAP1):c.782A>C (p.Gln261Pro)	TAP1 (Q261P +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 1040483	NM_000593.6(TAP1):c.605T>G (p.Met202Arg)	TAP1 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1099324	NM_000593.6(TAP1):c.551C>T (p.Thr184Met)	TAP1 (T184M)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GLikely benign
Select item 3173814	NM_000593.6(TAP1):c.538C>G (p.Leu180Val)	TAP1 (L180V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 946255	NM_000593.6(TAP1):c.386G>A (p.Arg129Lys)	TAP1 (R129K)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 1386307	NM_000593.6(TAP1):c.362C>T (p.Ala121Val)	TAP1 (A121V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2621835	NM_000593.6(TAP1):c.338T>C (p.Phe113Ser)	TAP1 (F113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324387	NM_000593.6(TAP1):c.266C>T (p.Ala89Val)	TAP1 (A89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2267978	NM_000593.6(TAP1):c.239T>C (p.Val80Ala)	TAP1 (V80A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324388	NM_000593.6(TAP1):c.5C>G (p.Ala2Gly)	TAP1 (A2G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 665818	NM_000593.6(TAP1):c.4G>A (p.Ala2Thr)	TAP1 (A62T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2618314	NM_000593.6(TAP1):c.-27C>T	TAP1	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 466376	NM_000593.6(TAP1):c.-59C>T	TAP1 (P41L)	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3173810	NM_000593.5(TAP1):c.110G>C (p.Arg37Pro)	TAP1 (R37P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524522	NM_000593.5(TAP1):c.109C>T (p.Arg37Trp)	TAP1 (R37W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41