ClinVar for Gene (Select 6891) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3452916	NM_001290043.2(TAP2):c.742G>A (p.Glu248Lys)	TAP2 (E248K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3452915	NM_001290043.2(TAP2):c.209G>A (p.Cys70Tyr)	TAP2 (C70Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3452913	NM_001290043.2(TAP2):c.472T>C (p.Phe158Leu)	TAP2 (F158L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3452912	NM_001290043.2(TAP2):c.900G>A (p.Met300Ile)	TAP2 (M300I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3452911	NM_001290043.2(TAP2):c.1061G>A (p.Arg354His)	TAP2 (R354H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3389189	NM_001290043.2(TAP2):c.758T>G (p.Leu253Arg)	TAP2 (L253R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245999	NC_000006.11:g.(?_32796632)_(32808844_?)del	PSMB8, TAP2	Deletion	MHC class I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3173817	NM_001290043.2(TAP2):c.899T>C (p.Met300Thr)	TAP2 (M300T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173815	NM_001290043.2(TAP2):c.1537G>A (p.Ala513Thr)	TAP2 (A513T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067869	NM_001290043.2(TAP2):c.1583T>C (p.Leu528Pro)	TAP2 (L528P)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 3060503	NM_018833.3(TAP2):c.*7A>G	TAP2	Single nucleotide variant (3 prime UTR variant)	TAP2-related disorder	GBenign
Select item 3042978	NM_018833.3(TAP2):c.1933-7_1933-5dup	TAP2	Duplication (intron variant)	TAP2-related disorder	GLikely benign
Select item 3021883	NM_001290043.2(TAP2):c.1635+20A>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 3020539	NM_001290043.2(TAP2):c.1932+1G>A	TAP2	Single nucleotide variant (splice donor variant)	MHC class I deficiency	GUncertain significance
Select item 3013838	NM_001290043.2(TAP2):c.63G>A (p.Trp21Ter)	TAP2 (W21*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 3011996	NM_001290043.2(TAP2):c.740-17T>G	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 3001430	NM_001290043.2(TAP2):c.786C>T (p.Asn262=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2987523	NM_001290043.2(TAP2):c.740-18C>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2973133	NM_001290043.2(TAP2):c.687T>G (p.Leu229=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2967823	NM_001290043.2(TAP2):c.82G>A (p.Gly28Arg)	TAP2 (G28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2957408	NM_001290043.2(TAP2):c.1462-12C>G	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2910322	NM_001290043.2(TAP2):c.1374G>C (p.Thr458=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2909993	NM_001290043.2(TAP2):c.1143+13A>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2907967	NM_001290043.2(TAP2):c.1143+15T>C	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2906513	NM_001290043.2(TAP2):c.861C>T (p.Ser287=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2900441	NM_001290043.2(TAP2):c.123G>A (p.Glu41=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2886322	NM_001290043.2(TAP2):c.1143+17G>A	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2883734	NM_001290043.2(TAP2):c.493+14G>A	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2876076	NM_001290043.2(TAP2):c.1572G>C (p.Gly524=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2868108	NM_001290043.2(TAP2):c.909A>C (p.Thr303=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2851879	NM_001290043.2(TAP2):c.1725G>A (p.Lys575=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2836713	NM_001290043.2(TAP2):c.936C>G (p.Thr312=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2833232	NM_001290043.2(TAP2):c.117del (p.Trp39fs)	TAP2 (W39fs)	Deletion (frameshift variant)	MHC class I deficiency	GPathogenic
Select item 2827683	NM_001290043.2(TAP2):c.765G>A (p.Ser255=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2822532	NM_001290043.2(TAP2):c.1143+16G>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2808213	NM_001290043.2(TAP2):c.609-14C>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2807520	NM_001290043.2(TAP2):c.441G>A (p.Pro147=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2803894	NM_001290043.2(TAP2):c.1635+1G>C	TAP2	Single nucleotide variant (splice donor variant)	MHC class I deficiency	GLikely pathogenic
Select item 2769549	NM_001290043.2(TAP2):c.84G>A (p.Gly28=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2768562	NM_001290043.2(TAP2):c.1569A>C (p.Thr523=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2766501	NM_001290043.2(TAP2):c.609-16T>C	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2758950	NM_001290043.2(TAP2):c.609-7C>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2740995	NM_001290043.2(TAP2):c.667T>C (p.Leu223=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2734845	NM_001290043.2(TAP2):c.1867C>T (p.Arg623Ter)	TAP2 (R623*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2733738	NM_001290043.2(TAP2):c.591C>T (p.Cys197=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2731223	NM_001290043.2(TAP2):c.1144-17T>C	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2727952	NM_001290043.2(TAP2):c.1636-1G>A	TAP2	Single nucleotide variant (splice acceptor variant)	MHC class I deficiency	GPathogenic
Select item 2722877	NM_001290043.2(TAP2):c.459T>A (p.Val153=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2722746	NM_001290043.2(TAP2):c.1461+19A>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2715683	NM_001290043.2(TAP2):c.1244A>C (p.Tyr415Ser)	TAP2 (Y415S)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2701692	NM_001290043.2(TAP2):c.690C>T (p.Phe230=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2681576	NM_001290043.2(TAP2):c.1426G>A (p.Ala476Thr)	TAP2 (A476T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2656478	NM_001290043.2(TAP2):c.285T>G (p.Ala95=)	TAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656477	NM_001290043.2(TAP2):c.1323G>C (p.Glu441Asp)	TAP2 (E441D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622470	NM_001290043.2(TAP2):c.755G>A (p.Arg252Gln)	TAP2 (R252Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577009	NM_001290043.2(TAP2):c.629G>A (p.Arg210Gln)	LOC107648851, TAP2 (R210Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2527064	NM_001290043.2(TAP2):c.526G>C (p.Val176Leu)	LOC107648851, TAP2 (V176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513764	NM_001290043.2(TAP2):c.1027C>T (p.Arg343Cys)	TAP2 (R343C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501760	NM_001290043.2(TAP2):c.1144-5delinsAC	TAP2	Indel (intron variant)	MHC class I deficiency	GUncertain significance
Select item 2501118	NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)	TAP2 (L272fs)	Indel (frameshift variant)	MHC class I deficiency	GLikely pathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2421682	NM_001290043.2(TAP2):c.1671C>T (p.Ser557=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2417584	NM_001290043.2(TAP2):c.320G>C (p.Gly107Ala)	TAP2 (G107A)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2416807	NM_001290043.2(TAP2):c.50C>T (p.Ala17Val)	TAP2 (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2415196	NM_001290043.2(TAP2):c.912A>G (p.Ile304Met)	TAP2 (I304M)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2399517	NM_001290043.2(TAP2):c.1670C>G (p.Ser557Cys)	TAP2 (S557C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330239	NM_001290043.2(TAP2):c.1007T>C (p.Val336Ala)	TAP2 (V336A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319993	NM_001290043.2(TAP2):c.515A>C (p.Tyr172Ser)	LOC107648851, TAP2 (Y172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287944	NM_001290043.2(TAP2):c.1205G>C (p.Gly402Ala)	TAP2 (G402A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286311	NM_001290043.2(TAP2):c.283G>C (p.Ala95Pro)	TAP2 (A95P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282967	NM_001290043.2(TAP2):c.1738G>A (p.Ala580Thr)	TAP2 (A580T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282786	NM_001290043.2(TAP2):c.938G>C (p.Arg313Pro)	TAP2 (R313P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200348	NM_001290043.2(TAP2):c.1309G>A (p.Val437Met)	TAP2 (V437M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2196370	NM_001290043.2(TAP2):c.486T>C (p.Ala162=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2191100	NM_001290043.2(TAP2):c.609-7C>G	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GUncertain significance
Select item 2189714	NM_001290043.2(TAP2):c.494-10C>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2184079	NM_001290043.2(TAP2):c.773C>T (p.Thr258Ile)	TAP2 (T258I)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2183426	NM_001290043.2(TAP2):c.945+10C>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GUncertain significance
Select item 2174842	NM_001290043.2(TAP2):c.1190A>G (p.Gln397Arg)	TAP2 (Q397R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2174402	NM_001290043.2(TAP2):c.754C>T (p.Arg252Trp)	TAP2 (R252W)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2167144	NM_001290043.2(TAP2):c.659G>A (p.Arg220Gln)	LOC107648851, TAP2 (R220Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2164747	NM_001290043.2(TAP2):c.814T>C (p.Leu272=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2164746	NM_001290043.2(TAP2):c.815del (p.Leu272fs)	TAP2 (L272fs)	Deletion (frameshift variant)	MHC class I deficiency	GPathogenic
Select item 2163883	NM_001290043.2(TAP2):c.1354A>G (p.Asn452Asp)	TAP2 (N452D)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2163726	NM_001290043.2(TAP2):c.1254C>T (p.Ser418=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2162080	NM_001290043.2(TAP2):c.179G>T (p.Gly60Val)	TAP2 (G60V)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 2160554	NM_001290043.2(TAP2):c.445C>G (p.Leu149Val)	TAP2 (L149V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2160045	NM_001290043.2(TAP2):c.1884C>T (p.Leu628=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2159535	NM_001290043.2(TAP2):c.1923C>G (p.Cys641Trp)	TAP2 (C641W)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 2157450	NM_001290043.2(TAP2):c.1272+13C>G	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2154550	NM_001290043.2(TAP2):c.1292G>C (p.Gly431Ala)	TAP2 (G431A)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 2153220	NM_001290043.2(TAP2):c.1735G>A (p.Ala579Thr)	TAP2 (A579T)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2151746	NM_001290043.2(TAP2):c.192A>G (p.Thr64=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2142212	NM_001290043.2(TAP2):c.1060C>T (p.Arg354Cys)	TAP2 (R354C)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2139632	NM_001290043.2(TAP2):c.1575A>C (p.Gly525=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2136377	NM_001290043.2(TAP2):c.658C>T (p.Arg220Ter)	LOC107648851, TAP2 (R220*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2131179	NM_001290043.2(TAP2):c.1479A>G (p.Leu493=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2122656	NM_001290043.2(TAP2):c.1134C>G (p.Leu378=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GUncertain significance
Select item 2107150	NM_001290043.2(TAP2):c.1272+17G>A	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign

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