10019[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 1299799	NM_005475.3(SH2B3):c.-28+5G>A	SH2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250173	NM_005475.3(SH2B3):c.-27-245A>G	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686181	NM_005475.3(SH2B3):c.1A>G (p.Met1Val)	SH2B3 (M1V)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GPathogenic
Select item 2428765	NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)	SH2B3 (C30Y)	Single nucleotide variant (missense variant)	Familial myelofibrosis	GUncertain significance
Select item 2304250	NM_005475.3(SH2B3):c.103G>T (p.Val35Leu)	SH2B3 (V35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686321	NM_005475.3(SH2B3):c.112G>A (p.Ala38Thr)	SH2B3 (A38T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3252447	NM_005475.3(SH2B3):c.127C>T (p.Arg43Cys)	SH2B3 (R43C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2407697	NM_005475.3(SH2B3):c.131A>G (p.Gln44Arg)	SH2B3 (Q44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355831	NM_005475.3(SH2B3):c.149G>T (p.Arg50Leu)	SH2B3 (R50L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161124	NM_005475.3(SH2B3):c.156T>G (p.His52Gln)	SH2B3 (H52Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2313204	NM_005475.3(SH2B3):c.172C>G (p.Leu58Val)	SH2B3 (L58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342985	NM_005475.3(SH2B3):c.191C>A (p.Ser64Ter)	SH2B3 (S64*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3253109	NM_005475.3(SH2B3):c.202_203del (p.Thr68fs)	SH2B3 (T68fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1685099	NM_005475.3(SH2B3):c.230G>A (p.Arg77His)	SH2B3 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050076	NM_005475.3(SH2B3):c.232G>A (p.Glu78Lys)	SH2B3 (E78K)	Single nucleotide variant (missense variant)	SH2B3-related disorder	GLikely benign
Select item 3352709	NM_005475.3(SH2B3):c.238C>T (p.Arg80Cys)	SH2B3 (R80C)	Single nucleotide variant (missense variant)	SH2B3-related disorder	GBenign
Select item 743164	NM_005475.3(SH2B3):c.333C>T (p.Ala111=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605927	NM_005475.3(SH2B3):c.340G>T (p.Gly114Cys)	SH2B3 (G114C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318000	NM_005475.3(SH2B3):c.401C>T (p.Ser134Phe)	SH2B3 (S134F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992914	NM_005475.3(SH2B3):c.424C>T (p.Leu142Phe)	SH2B3 (L142F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298558	NM_005475.3(SH2B3):c.449C>A (p.Ser150Ter)	SH2B3 (S150*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1336169	NM_005475.3(SH2B3):c.464C>T (p.Pro155Leu)	SH2B3 (P155L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2584840	NM_005475.3(SH2B3):c.482C>T (p.Ala161Val)	SH2B3 (A161V)	Single nucleotide variant (missense variant)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 380743	NM_005475.3(SH2B3):c.494C>G (p.Thr165Ser)	SH2B3 (T165S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 714571	NM_005475.3(SH2B3):c.540G>A (p.Lys180=)	SH2B3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1250441	NM_005475.3(SH2B3):c.544T>C (p.Phe182Leu)	SH2B3 (F182L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2672522	NM_005475.3(SH2B3):c.557G>T (p.Ser186Ile)	SH2B3 (S186I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 30444	NM_005475.3(SH2B3):c.603_607del (p.Arg202fs)	SH2B3 (R202fs)	Deletion (frameshift variant)	Primary myelofibrosis	GPathogenic
Select item 2408730	NM_005475.3(SH2B3):c.605G>C (p.Arg202Pro)	SH2B3 (R202P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 30446	NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter)	SH2B3 (E208*)	Single nucleotide variant (nonsense)	Primary familial polycythemia due to EPO receptor mutation	GAffects
Select item 30445	NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)	SH2B3 (E208Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2322874	NM_005475.3(SH2B3):c.631A>G (p.Met211Val)	SH2B3 (M211V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337877	NM_005475.3(SH2B3):c.639C>A (p.Ser213Arg)	SH2B3 (S213R)	Single nucleotide variant (missense variant)	SH2B3-related disorder +2 more	GUncertain significance
Select item 2555922	NM_005475.3(SH2B3):c.652C>A (p.Gln218Lys)	SH2B3 (Q218K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920817	NM_005475.3(SH2B3):c.662G>T (p.Arg221Met)	SH2B3 (R221M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3317999	NM_005475.3(SH2B3):c.674G>A (p.Arg225His)	SH2B3 (R225H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533578	NM_005475.3(SH2B3):c.674G>C (p.Arg225Pro)	SH2B3 (R225P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376276	NM_005475.3(SH2B3):c.676C>T (p.Arg226Trp)	SH2B3 (R226W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2510462	NM_005475.3(SH2B3):c.691G>A (p.Asp231Asn)	SH2B3 (D231N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382894	NM_005475.3(SH2B3):c.691G>T (p.Asp231Tyr)	SH2B3 (D231Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382439	NM_005475.3(SH2B3):c.703C>T (p.Arg235Cys)	SH2B3 (R235C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 733919	NM_005475.3(SH2B3):c.729C>T (p.Pro243=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288024	NM_005475.3(SH2B3):c.732+57T>A	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248294	NM_005475.3(SH2B3):c.732+294T>C	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2920764	NM_005475.3(SH2B3):c.733-11835T>C	SH2B3 (L6P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2643316	NM_005475.3(SH2B3):c.733-11829G>A	SH2B3 (R8H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570848	NM_005475.3(SH2B3):c.733-1957G>A	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246850	NM_005475.3(SH2B3):c.733-268G>C	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281022	NM_005475.3(SH2B3):c.733-142T>C	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443260	NM_005475.3(SH2B3):c.733-10G>C	SH2B3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2462938	NM_005475.3(SH2B3):c.755C>G (p.Ala252Gly)	SH2B3 (A50G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336175	NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr)	SH2B3 (I257T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3340696	NM_005475.3(SH2B3):c.772C>T (p.Gln258Ter)	SH2B3 (Q258* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2443261	NM_005475.3(SH2B3):c.781C>T (p.Arg261Trp)	SH2B3 (R261W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265448	NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)	SH2B3 (W262R +1 more)	Single nucleotide variant (missense variant)	Thrombocythemia 1 +3 more	GBenign
Select item 1685101	NM_005475.3(SH2B3):c.794G>A (p.Arg265Gln)	SH2B3 (R265Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 733920	NM_005475.3(SH2B3):c.795G>A (p.Arg265=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3161126	NM_005475.3(SH2B3):c.812A>G (p.Asn271Ser)	SH2B3 (N69S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257104	NM_005475.3(SH2B3):c.848C>A (p.Thr283Lys)	SH2B3 (T283K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634485	NM_005475.3(SH2B3):c.904C>T (p.Leu302Phe)	SH2B3 (L100F +1 more)	Single nucleotide variant (missense variant)	SH2B3-related disorder	GUncertain significance
Select item 501688	NM_005475.3(SH2B3):c.908_918del (p.Ser303fs)	SH2B3 (S101fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2369926	NM_005475.3(SH2B3):c.919G>C (p.Gly307Arg)	SH2B3 (G105R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342363	NM_005475.3(SH2B3):c.923G>A (p.Arg308Gln)	SH2B3 (R106Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2456290	NM_005475.3(SH2B3):c.940G>A (p.Glu314Lys)	SH2B3 (E314K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045593	NM_005475.3(SH2B3):c.1022-10_1022-6del	SH2B3	Deletion (intron variant)	SH2B3-related disorder	GLikely benign
Select item 2369292	NM_005475.3(SH2B3):c.1022G>A (p.Gly341Asp)	SH2B3 (G139D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732661	NM_005475.3(SH2B3):c.1031C>T (p.Pro344Leu)	SH2B3 (P344L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2315035	NM_005475.3(SH2B3):c.1052C>T (p.Ala351Val)	SH2B3 (A149V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377564	NM_005475.3(SH2B3):c.1064C>T (p.Thr355Met)	SH2B3 (T355M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800348	NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser)	SH2B3 (P161S +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 2920899	NM_005475.3(SH2B3):c.1137G>A (p.Gln379=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3161123	NM_005475.3(SH2B3):c.1154C>A (p.Ala385Asp)	SH2B3 (A385D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 619973	NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	SH2B3 (E193K +1 more)	Single nucleotide variant (missense variant)	Primary familial polycythemia due to EPO receptor mutation +1 more	GPathogenic/Likely pathogenic
Select item 501686	NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)	SH2B3 (E198K +1 more)	Single nucleotide variant (missense variant)	Primary myelofibrosis +3 more	GUncertain significance
Select item 3342521	NM_005475.3(SH2B3):c.1199A>G (p.Glu400Gly)	SH2B3 (E198G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3318001	NM_005475.3(SH2B3):c.1205T>C (p.Val402Ala)	SH2B3 (V402A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805838	NM_005475.3(SH2B3):c.1228del (p.Gly409_Ile410insTer)	SH2B3	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3054073	NM_005475.3(SH2B3):c.1236+3_1236+7del	SH2B3	Deletion (intron variant)	SH2B3-related disorder	GLikely benign
Select item 1285139	NM_005475.3(SH2B3):c.1236+4TGGGG[6]	SH2B3	Microsatellite (intron variant)	not specified	GLikely benign
Select item 1250838	NM_005475.3(SH2B3):c.1236+4TGGGG[4]	SH2B3	Microsatellite (intron variant)	not provided	GBenign
Select item 1278036	NM_005475.3(SH2B3):c.1236+24T>G	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3064477	NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)	SH2B3 (Q240P +1 more)	Single nucleotide variant (missense variant)	Primary myelofibrosis	GUncertain significance
Select item 2543522	NM_005475.3(SH2B3):c.1327C>T (p.Arg443Cys)	SH2B3 (R241C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351660	NM_005475.3(SH2B3):c.1331C>T (p.Ser444Leu)	SH2B3 (S444L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252533	NM_005475.3(SH2B3):c.1351G>A (p.Gly451Ser)	SH2B3 (G249S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443258	NM_005475.3(SH2B3):c.1383C>T (p.Tyr461=)	SH2B3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3024919	NM_005475.3(SH2B3):c.1401A>G (p.Gln467=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336180	NM_005475.3(SH2B3):c.1426C>T (p.Leu476Phe)	SH2B3 (L274F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2443259	NM_005475.3(SH2B3):c.1454_1477del (p.Asp485_Trp492del)	SH2B3	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2687865	NM_005475.3(SH2B3):c.1493T>C (p.Leu498Pro)	SH2B3 (L296P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer	GLikely benign
Select item 2235327	NM_005475.3(SH2B3):c.1501C>T (p.Leu501Phe)	SH2B3 (L299F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787931	NM_005475.3(SH2B3):c.1523G>A (p.Arg508Gln)	SH2B3 (R508Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3067470	NM_005475.3(SH2B3):c.1556C>T (p.Ser519Phe)	SH2B3 (S317F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065048	NM_005475.3(SH2B3):c.1566dup (p.Glu523fs)	SH2B3 (E321fs +1 more)	Duplication (frameshift variant)	Primary myelofibrosis	GLikely pathogenic
Select item 3341028	NM_005475.3(SH2B3):c.1603C>G (p.Leu535Val)	SH2B3 (L333V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920793	NM_005475.3(SH2B3):c.1651C>T (p.Arg551Trp)	SH2B3 (R349W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3161125	NM_005475.3(SH2B3):c.1685G>A (p.Arg562Gln)	SH2B3 (R562Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395989	NM_005475.3(SH2B3):c.1715A>G (p.Tyr572Cys)	SH2B3 (Y370C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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