6892[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2436954	NM_003190.5(TAPBP):c.1345T>G (p.Ter449Gly)	TAPBP (V437G)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1105304	NM_003190.5(TAPBP):c.1336-4C>A	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 7606	NM_003190.5(TAPBP):c.469+3326_1336-732del	TAPBP	Deletion (splice acceptor variant +1 more)	MHC class I deficiency	GPathogenic
Select item 1667187	NM_003190.5(TAPBP):c.1314C>T (p.Ser438=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1607876	NM_003190.5(TAPBP):c.1309C>T (p.Leu437=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2832250	NM_003190.5(TAPBP):c.1301-5dup	TAPBP	Duplication (intron variant)	MHC class I deficiency	GBenign
Select item 1169190	NM_003190.5(TAPBP):c.1301-14A>G	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GBenign
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 2135236	NM_003190.5(TAPBP):c.1300+11G>C	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1128319	NM_003190.5(TAPBP):c.1300+8T>C	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 649689	NM_003190.5(TAPBP):c.1300+3_1300+6del	TAPBP	Deletion (splice donor variant)	MHC class I deficiency	GUncertain significance
Select item 1426651	NM_003190.5(TAPBP):c.1297G>A (p.Ala433Thr)	TAPBP (A433T +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2155960	NM_003190.5(TAPBP):c.1292G>C (p.Gly431Ala)	TAPBP (G344A +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 730560	NM_003190.5(TAPBP):c.1284G>A (p.Lys428=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency +1 more	GBenign/Likely benign
Select item 1722289	NM_003190.5(TAPBP):c.1279T>C (p.Phe427Leu)	TAPBP (F340L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1042974	NM_003190.5(TAPBP):c.1268T>C (p.Leu423Pro)	TAPBP (L336P +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 534708	NM_003190.5(TAPBP):c.1258G>A (p.Ala420Thr)	TAPBP (A420T +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 466397	NM_003190.5(TAPBP):c.1252C>T (p.Leu418=)	TAPBP	Single nucleotide variant (synonymous variant)	TAPBP-related condition +1 more	GBenign
Select item 1544466	NM_003190.5(TAPBP):c.1248T>C (p.Leu416=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 466396	NM_003190.5(TAPBP):c.1239C>T (p.Ser413=)	TAPBP	Single nucleotide variant (synonymous variant)	TAPBP-related condition +1 more	GBenign
Select item 534736	NM_003190.5(TAPBP):c.1234G>A (p.Asp412Asn)	TAPBP (D412N +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GLikely benign
Select item 763120	NM_003190.5(TAPBP):c.1228C>T (p.Leu410Phe)	TAPBP (L410F +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GLikely benign
Select item 2709188	NM_003190.5(TAPBP):c.1227C>T (p.Ser409=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 843381	NM_003190.5(TAPBP):c.1214T>A (p.Leu405His)	TAPBP (L405H +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1045689	NM_003190.5(TAPBP):c.1211-6T>A	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GUncertain significance
Select item 1168553	NM_003190.5(TAPBP):c.1210+20C>T	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GBenign
Select item 2170633	NM_003190.5(TAPBP):c.1210+11G>A	TAPBP	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 2714367	NM_003190.5(TAPBP):c.1210G>A (p.Gly404Ser)	TAPBP (G317S +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1595869	NM_003190.5(TAPBP):c.1203G>A (p.Glu401=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 851044	NM_003190.5(TAPBP):c.1196C>A (p.Thr399Asn)	TAPBP (T312N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 837985	NM_003190.5(TAPBP):c.1186G>A (p.Ala396Thr)	TAPBP (A396T +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 742719	NM_003190.5(TAPBP):c.1185C>T (p.Ser395=)	TAPBP	Single nucleotide variant (synonymous 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 466395	NM_003190.5(TAPBP):c.1181G>A (p.Arg394His)	TAPBP (R394H +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 578410	NM_003190.5(TAPBP):c.1180C>T (p.Arg394Cys)	TAPBP (R394C +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2192971	NM_003190.5(TAPBP):c.1176G>A (p.Ser392=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 935734	NM_003190.5(TAPBP):c.1175C>T (p.Ser392Leu)	TAPBP (S305L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1906077	NM_003190.5(TAPBP):c.1172C>G (p.Ala391Gly)	TAPBP (A304G +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1718585	NM_003190.5(TAPBP):c.1172C>T (p.Ala391Val)	TAPBP (A304V +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 2787723	NM_003190.5(TAPBP):c.1164C>T (p.Ser388=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
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 1576444	NM_003190.5(TAPBP):c.1143C>T (p.Ala381=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1030639	NM_003190.5(TAPBP):c.1138T>C (p.Tyr380His)	TAPBP (Y293H +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2153230	NM_003190.5(TAPBP):c.1135C>T (p.Arg379Cys)	TAPBP (R379C +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 856530	NM_003190.5(TAPBP):c.1135C>G (p.Arg379Gly)	TAPBP (R379G +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1089621	NM_003190.5(TAPBP):c.1128T>C (p.His376=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1429667	NM_003190.5(TAPBP):c.1105C>T (p.Pro369Ser)	TAPBP (P282S +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1540165	NM_003190.5(TAPBP):c.1104G>A (p.Pro368=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 846641	NM_003190.5(TAPBP):c.1103C>T (p.Pro368Leu)	TAPBP (P281L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 1385010	NM_003190.5(TAPBP):c.1102C>G (p.Pro368Ala)	TAPBP (P368A +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1403479	NM_003190.5(TAPBP):c.1081A>C (p.Ser361Arg)	TAPBP (S361R +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 576167	NM_003190.5(TAPBP):c.1069G>A (p.Asp357Asn)	TAPBP (D357N +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1906910	NM_003190.5(TAPBP):c.1068C>T (p.Ser356=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1944022	NM_003190.5(TAPBP):c.1058G>A (p.Arg353His)	TAPBP (R353H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1422359	NM_003190.5(TAPBP):c.1057C>T (p.Arg353Cys)	TAPBP (R266C +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 2903415	NM_003190.5(TAPBP):c.1050G>A (p.Ser350=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 636341	NM_003190.5(TAPBP):c.1049C>T (p.Ser350Leu)	TAPBP (S263L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 639896	NM_003190.5(TAPBP):c.1046T>C (p.Leu349Pro)	TAPBP (L262P +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 715369	NM_003190.5(TAPBP):c.1029C>T (p.Ala343=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 766559	NM_003190.5(TAPBP):c.1026G>A (p.Lys342=)	TAPBP	Single nucleotide variant (synonymous variant)	TAPBP-related condition +1 more	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 1077575	NM_003190.5(TAPBP):c.1014C>T (p.Gly338=)	TAPBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2081415	NM_003190.5(TAPBP):c.1013G>A (p.Gly338Asp)	TAPBP (G251D +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 665431	NM_003190.5(TAPBP):c.1001G>A (p.Gly334Asp)	TAPBP (G334D +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 729268	NM_003190.5(TAPBP):c.998G>A (p.Arg333Gln)	TAPBP (R246Q +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GLikely benign
Select item 850117	NM_003190.5(TAPBP):c.997C>T (p.Arg333Trp)	TAPBP (R333W +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
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 2140715	NM_003190.5(TAPBP):c.975C>G (p.Gly325=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2334072	NM_003190.5(TAPBP):c.974G>T (p.Gly325Val)	TAPBP (G238V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 661409	NM_003190.5(TAPBP):c.974G>A (p.Gly325Asp)	TAPBP (G238D +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 466400	NM_003190.5(TAPBP):c.972G>A (p.Gly324=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GBenign
Select item 1909660	NM_003190.5(TAPBP):c.969T>C (p.Ser323=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
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 1647538	NM_003190.5(TAPBP):c.948T>C (p.Leu316=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2057426	NM_003190.5(TAPBP):c.946C>T (p.Leu316Phe)	TAPBP (L229F +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GLikely benign
Select item 2751999	NM_003190.5(TAPBP):c.935A>G (p.Glu312Gly)	TAPBP (E225G +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1364759	NM_003190.5(TAPBP):c.934_935delinsTT (p.Glu312Leu)	TAPBP (E312L +1 more)	Indel (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1140597	NM_003190.5(TAPBP):c.933G>A (p.Pro311=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 661969	NM_003190.5(TAPBP):c.932C>T (p.Pro311Leu)	TAPBP (P311L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 965843	NM_003190.5(TAPBP):c.928C>T (p.Pro310Ser)	TAPBP (P223S +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1004402	NM_003190.5(TAPBP):c.926C>A (p.Ala309Glu)	TAPBP (A222E +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1062296	NM_003190.5(TAPBP):c.913G>A (p.Ala305Thr)	TAPBP (A218T +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1578891	NM_003190.5(TAPBP):c.912C>T (p.Ala304=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1418127	NM_003190.5(TAPBP):c.908G>A (p.Arg303Gln)	TAPBP (R216Q +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 965547	NM_003190.5(TAPBP):c.907C>T (p.Arg303Trp)	TAPBP (R303W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3047316	NM_003190.5(TAPBP):c.886C>T (p.Leu296=)	TAPBP	Single nucleotide variant (synonymous variant)	TAPBP-related condition	GLikely benign
Select item 1158789	NM_003190.5(TAPBP):c.876C>G (p.Pro292=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency +1 more	GLikely benign
Select item 651374	NM_003190.5(TAPBP):c.872C>A (p.Pro291His)	TAPBP (P204H +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 2000970	NM_003190.5(TAPBP):c.870A>C (p.Lys290Asn)	TAPBP (K203N +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1943759	NM_003190.5(TAPBP):c.869-12C>T	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2059140	NM_003190.5(TAPBP):c.869-15G>A	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1567517	NM_003190.5(TAPBP):c.869-16C>T	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2766684	NM_003190.5(TAPBP):c.868+11G>A	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign

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