ClinVar for MedGen (Select 346868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246014	NC_000006.11:g.(?_33276773)_(33281550_?)del	TAPBP	Deletion	MHC class I deficiency	GUncertain significance
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	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 3236654	NM_000593.6(TAP1):c.2104dup (p.His702fs)	PSMB8-AS1, TAP1 (H501fs +1 more)	Duplication (non-coding transcript variant +1 more)	MHC class I deficiency	GPathogenic
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 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 3022205	NM_003190.5(TAPBP):c.499G>A (p.Ala167Thr)	TAPBP (A80T +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 3022095	NM_003190.5(TAPBP):c.376G>A (p.Val126Ile)	TAPBP (V126I)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
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 3019757	NM_000593.6(TAP1):c.1278C>T (p.Ile426=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 3019559	NM_003190.5(TAPBP):c.706G>A (p.Val236Met)	TAPBP (V149M +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 3015628	NM_003190.5(TAPBP):c.3G>T (p.Met1Ile)	TAPBP (M1I)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 3013839	NM_000593.6(TAP1):c.1740+8dup	TAP1	Duplication (intron variant)	MHC class I deficiency	GLikely benign
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 3003983	NM_003190.5(TAPBP):c.495C>T (p.Thr165=)	TAPBP	Single nucleotide variant (synonymous 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 2996002	NM_000593.6(TAP1):c.1167G>A (p.Lys389=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2995529	NM_003190.5(TAPBP):c.1300+17C>A	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2989486	NM_003190.5(TAPBP):c.505C>T (p.Arg169Ter)	TAPBP (R169* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GUncertain significance
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 2987509	NM_000593.6(TAP1):c.1248+9C>A	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2980695	NM_003190.5(TAPBP):c.1016G>A (p.Arg339His)	TAPBP (R339H +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2978051	NC_000006.12:g.32853787T>C	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 2975595	NM_003190.5(TAPBP):c.1170T>C (p.Pro390=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2975137	NM_003190.5(TAPBP):c.389G>T (p.Ser130Ile)	TAPBP (S130I)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
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 2969256	NM_003190.5(TAPBP):c.1052C>T (p.Ala351Val)	TAPBP (A264V +1 more)	Single nucleotide variant (missense 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)	MHC class I deficiency	GUncertain significance
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 2957408	NM_001290043.2(TAP2):c.1462-12C>G	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2955675	NM_003190.5(TAPBP):c.1183A>C (p.Ser395Arg)	TAPBP (S395R +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 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 2906751	NM_003190.5(TAPBP):c.414C>T (p.Leu138=)	TAPBP	Single nucleotide variant (synonymous variant +1 more)	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 2904279	NM_000593.6(TAP1):c.1374G>T (p.Val458=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2903593	NM_003190.5(TAPBP):c.558C>A (p.Pro186=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2903423	NM_003190.5(TAPBP):c.1069G>C (p.Asp357His)	TAPBP (D357H +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2903415	NM_003190.5(TAPBP):c.1050G>A (p.Ser350=)	TAPBP	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 2899310	NM_003190.5(TAPBP):c.17T>C (p.Leu6Pro)	TAPBP (L6P)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2898931	NM_003190.5(TAPBP):c.169C>T (p.Arg57Trp)	TAPBP (R57W)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2897637	NM_003190.5(TAPBP):c.359A>G (p.Asp120Gly)	TAPBP (D120G)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
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 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 2883120	NM_003190.5(TAPBP):c.475C>T (p.Leu159=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2877136	NM_003190.5(TAPBP):c.989G>C (p.Trp330Ser)	TAPBP (W243S +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 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	NC_000006.12:g.32853787T>G	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 2868108	NM_001290043.2(TAP2):c.909A>C (p.Thr303=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2867909	NC_000006.12:g.32853722C>G	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 2866687	NM_003190.5(TAPBP):c.184C>G (p.Pro62Ala)	TAPBP (P62A)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2866272	NM_003190.5(TAPBP):c.481G>A (p.Val161Ile)	TAPBP (V161I +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2860090	NM_003190.5(TAPBP):c.1148G>A (p.Arg383Gln)	TAPBP (R383Q +1 more)	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 2851879	NM_001290043.2(TAP2):c.1725G>A (p.Lys575=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2849317	NM_003190.5(TAPBP):c.108G>A (p.Lys36=)	TAPBP	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 2842694	NM_003190.5(TAPBP):c.869delA (p.Lys290fs)	TAPBP (K290fs +1 more)	Deletion (frameshift variant)	MHC class I deficiency	GUncertain significance
Select item 2839992	NM_003190.5(TAPBP):c.37+1G>A	TAPBP	Single nucleotide variant (splice donor variant)	MHC class I deficiency	GUncertain significance
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 2833868	NM_003190.5(TAPBP):c.550T>C (p.Tyr184His)	TAPBP (Y184H +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2833232	NM_001290043.2(TAP2):c.117del (p.Trp39fs)	TAP2 (W39fs)	Deletion (frameshift variant)	MHC class I deficiency	GPathogenic
Select item 2832250	NM_003190.5(TAPBP):c.1301-5dup	TAPBP	Duplication (intron variant)	MHC class I deficiency	GBenign
Select item 2830866	NM_003190.5(TAPBP):c.593G>A (p.Gly198Asp)	TAPBP (G198D +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 2823609	NM_000593.6(TAP1):c.1903+19del	TAP1	Deletion (intron variant)	MHC class I deficiency	GLikely benign
Select item 2823554	NM_003190.5(TAPBP):c.241C>T (p.Arg81Trp)	TAPBP (R81W)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
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 2818870	NM_003190.5(TAPBP):c.1210+8C>T	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2818788	NM_003190.5(TAPBP):c.819A>G (p.Ile273Met)	TAPBP (I186M +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2816840	NM_003190.5(TAPBP):c.37+16G>T	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2812240	NM_003190.5(TAPBP):c.113T>G (p.Leu38Arg)	TAPBP (L38R)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2811764	NM_003190.5(TAPBP):c.719C>T (p.Ala240Val)	TAPBP (A153V +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 2805488	NM_003190.5(TAPBP):c.804C>T (p.Thr268=)	TAPBP	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 2796714	NM_003190.5(TAPBP):c.949G>A (p.Val317Met)	TAPBP (V230M +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 2791955	NM_003190.5(TAPBP):c.469+18G>A	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
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

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