ClinVar for Gene (Select 6890) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064727	NM_000593.6(TAP1):c.1147G>A (p.Glu383Lys)	TAP1 (E182K +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 3062136	NM_000593.6(TAP1):c.1604C>T (p.Ala535Val)	TAP1 (A334V +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 3024794	NM_000593.6(TAP1):c.*76A>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3019757	NM_000593.6(TAP1):c.1278C>T (p.Ile426=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 3013839	NM_000593.6(TAP1):c.1740+8dup	TAP1	Duplication (intron variant)	MHC class I deficiency	GLikely benign
Select item 2996002	NM_000593.6(TAP1):c.1167G>A (p.Lys389=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2987509	NM_000593.6(TAP1):c.1248+9C>A	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2978051	NM_000593.5(TAP1):c.30A>G (p.Ser10=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2977745	NM_000593.6(TAP1):c.993C>G (p.Thr331=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2964878	NM_000593.6(TAP1):c.30C>T (p.Arg10=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2959928	NM_000593.6(TAP1):c.15G>A (p.Arg5=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2957632	NM_000593.6(TAP1):c.294A>G (p.Pro98=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2914716	NM_000593.6(TAP1):c.876G>A (p.Thr292=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2904279	NM_000593.6(TAP1):c.1374G>T (p.Val458=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2895053	NM_000593.6(TAP1):c.1248+10T>G	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2894430	NM_000593.6(TAP1):c.1753G>A (p.Gly585Arg)	TAP1 (G384R +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2872069	NM_000593.6(TAP1):c.599-17C>T	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2871326	NM_000593.6(TAP1):c.162G>T (p.Leu54=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2870608	NM_000593.6(TAP1):c.1662G>A (p.Leu554=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2870546	NM_000593.5(TAP1):c.30A>C (p.Ser10=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2869693	NM_000593.6(TAP1):c.646C>T (p.Leu216=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2867909	NM_000593.5(TAP1):c.95G>C (p.Gly32Ala)	TAP1 (G32A)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2867908	NM_000593.6(TAP1):c.490G>A (p.Gly164Ser)	TAP1 (G164S)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2856305	NM_000593.6(TAP1):c.588C>T (p.Leu196=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2848869	NM_000593.6(TAP1):c.1813C>T (p.Gln605Ter)	TAP1 (Q404* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2843850	NM_000593.6(TAP1):c.1319G>C (p.Ser440Thr)	TAP1 (S440T +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2823609	NM_000593.6(TAP1):c.1903+19del	TAP1	Deletion (intron variant)	MHC class I deficiency	GLikely benign
Select item 2796271	NM_000593.6(TAP1):c.1699A>T (p.Lys567Ter)	TAP1 (K366* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2792573	NM_000593.6(TAP1):c.1738C>T (p.Gln580Ter)	TAP1 (Q580* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2791758	NM_000593.6(TAP1):c.150C>T (p.Thr50=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2790808	NM_000593.6(TAP1):c.609C>T (p.Ala203=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2780812	NM_000593.6(TAP1):c.676C>T (p.Arg226Ter)	TAP1 (R25* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2778172	NM_000593.6(TAP1):c.1740+2T>C	TAP1	Single nucleotide variant (splice donor variant)	MHC class I deficiency	GLikely pathogenic
Select item 2764589	NM_000593.6(TAP1):c.1597G>C (p.Val533Leu)	TAP1 (V332L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2748922	NM_000593.6(TAP1):c.879C>T (p.Ser293=)	TAP1	Single nucleotide variant (synonymous variant)	TAP1-related condition +1 more	GLikely benign
Select item 2743049	NM_000593.6(TAP1):c.1789G>T (p.Glu597Ter)	TAP1 (E597* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2733130	NM_000593.6(TAP1):c.1581C>T (p.Thr527=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2729204	NM_000593.6(TAP1):c.1146C>T (p.Asn382=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2727599	NM_000593.6(TAP1):c.1476T>C (p.Gly492=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2726427	NM_000593.6(TAP1):c.1200C>A (p.Leu400=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2723298	NM_000593.6(TAP1):c.354A>C (p.Ser118=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2722833	NM_000593.6(TAP1):c.1938T>C (p.Gly646=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2720475	NM_000593.6(TAP1):c.2041-15G>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 2716453	NM_000593.6(TAP1):c.721C>T (p.Leu241=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2715303	NM_000593.6(TAP1):c.1800C>T (p.Ala600=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2714364	NM_000593.6(TAP1):c.714-14C>T	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2711769	NM_000593.6(TAP1):c.82C>T (p.Leu28=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2707722	NM_000593.6(TAP1):c.-16C>T	TAP1	Single nucleotide variant (5 prime UTR variant)	MHC class I deficiency	GLikely benign
Select item 2705098	NM_000593.6(TAP1):c.1217_1218del (p.Val406fs)	TAP1 (V205fs +1 more)	Microsatellite (frameshift variant)	MHC class I deficiency	GPathogenic
Select item 2704836	NM_000593.6(TAP1):c.160C>T (p.Leu54=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2704380	NM_000593.6(TAP1):c.981C>T (p.Leu327=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
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 2618314	NM_000593.6(TAP1):c.-27C>T	TAP1	Single nucleotide variant (5 prime UTR 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 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 2582316	NM_000593.6(TAP1):c.887G>A (p.Ser296Asn)	TAP1 (S296N +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2573443	NM_000593.6(TAP1):c.2239C>T (p.Pro747Ser)	PSMB8-AS1, TAP1 (P546S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2572421	NM_000593.6(TAP1):c.884del (p.Leu295fs)	TAP1 (L295fs +1 more)	Deletion (frameshift variant)	MHC class I deficiency	GPathogenic
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 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 2524522	NM_000593.5(TAP1):c.109C>T (p.Arg37Trp)	TAP1 (R37W)	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 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 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2436953	NM_000593.6(TAP1):c.2149G>T (p.Gly717Ter)	PSMB8-AS1, TAP1 (G516* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2421518	NM_000593.5(TAP1):c.57C>T (p.Ala19=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2419034	NM_000593.6(TAP1):c.934C>T (p.Arg312Ter)	TAP1 (R111* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2418035	NM_000593.6(TAP1):c.875C>T (p.Thr292Met)	TAP1 (T292M +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2416849	NM_000593.6(TAP1):c.387G>A (p.Arg129=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2415733	NM_000593.6(TAP1):c.90C>T (p.Leu30=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2415197	NM_000593.6(TAP1):c.93C>T (p.Ala31=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
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 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 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 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 2267978	NM_000593.6(TAP1):c.239T>C (p.Val80Ala)	TAP1 (V80A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2201755	NM_000593.6(TAP1):c.1092C>T (p.Ser364=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2192541	NM_000593.6(TAP1):c.1580C>T (p.Thr527Ile)	TAP1 (T326I +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2184556	NM_000593.6(TAP1):c.757A>G (p.Met253Val)	TAP1 (M52V +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2184080	NM_000593.6(TAP1):c.664G>T (p.Asp222Tyr)	TAP1 (D21Y +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2182884	NM_000593.6(TAP1):c.354A>T (p.Ser118=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2180752	NM_000593.6(TAP1):c.242G>T (p.Gly81Val)	TAP1 (G81V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2179182	NM_000593.5(TAP1):c.65C>T (p.Ser22Leu)	TAP1 (S22L)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2168403	NM_000593.6(TAP1):c.1250T>C (p.Ile417Thr)	TAP1 (I216T +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2166120	NM_000593.6(TAP1):c.1911C>T (p.Asp637=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2165422	NM_000593.6(TAP1):c.217T>G (p.Cys73Gly)	TAP1 (C73G)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2162845	NM_000593.6(TAP1):c.1543C>T (p.Arg515Cys)	TAP1 (R314C +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2154471	NM_000593.6(TAP1):c.1136G>C (p.Ser379Thr)	TAP1 (S379T +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2145190	NM_000593.6(TAP1):c.2066C>T (p.Pro689Leu)	PSMB8-AS1, TAP1 (P488L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 2141749	NM_000593.6(TAP1):c.1377+20A>G	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2139492	NM_000593.6(TAP1):c.447C>G (p.Pro149=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2130133	NM_000593.5(TAP1):c.81C>T (p.Ala27=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2113281	NM_000593.6(TAP1):c.1386C>T (p.Leu462=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2106968	NM_000593.6(TAP1):c.564G>T (p.Ser188=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2096743	NM_000593.6(TAP1):c.335T>A (p.Leu112Ter)	TAP1 (L112*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2095579	NM_000593.6(TAP1):c.1365C>T (p.Thr455=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2094079	NM_000593.6(TAP1):c.1741-4T>G	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2092707	NM_000593.6(TAP1):c.1095G>C (p.Gln365His)	TAP1 (Q164H +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance

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