ClinVar for Gene (Select 10019) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3161124	NM_005475.3(SH2B3):c.156T>G (p.His52Gln)	SH2B3 (H52Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3054073	NM_005475.3(SH2B3):c.1236+3_1236+7del	SH2B3	Deletion (intron variant)	SH2B3-related condition	GLikely benign
Select item 3050076	NM_005475.3(SH2B3):c.232G>A (p.Glu78Lys)	SH2B3 (E78K)	Single nucleotide variant (missense variant)	SH2B3-related condition	GLikely benign
Select item 3045593	NM_005475.3(SH2B3):c.1022-10_1022-6del	SH2B3	Deletion (intron variant)	SH2B3-related condition	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 2920899	NM_005475.3(SH2B3):c.1137G>A (p.Gln379=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2920764	NM_005475.3(SH2B3):c.733-11835T>C	SH2B3 (L6P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely 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 2672522	NM_005475.3(SH2B3):c.557G>T (p.Ser186Ile)	SH2B3 (S186I)	Single nucleotide variant (missense variant)	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 2637249	NM_005475.3(SH2B3):c.*8G>C	SH2B3	Single nucleotide variant (3 prime UTR variant)	SH2B3-related condition	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 condition	GUncertain significance
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 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 2570848	NM_005475.3(SH2B3):c.733-1957G>A	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2533578	NM_005475.3(SH2B3):c.674G>C (p.Arg225Pro)	SH2B3 (R225P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 2443260	NM_005475.3(SH2B3):c.733-10G>C	SH2B3	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 2443258	NM_005475.3(SH2B3):c.1383C>T (p.Tyr461=)	SH2B3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2408730	NM_005475.3(SH2B3):c.605G>C (p.Arg202Pro)	SH2B3 (R202P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2395989	NM_005475.3(SH2B3):c.1715A>G (p.Tyr572Cys)	SH2B3 (Y370C +1 more)	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)	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 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 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 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 2355831	NM_005475.3(SH2B3):c.149G>T (p.Arg50Leu)	SH2B3 (R50L)	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 2322874	NM_005475.3(SH2B3):c.631A>G (p.Met211Val)	SH2B3 (M211V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2313204	NM_005475.3(SH2B3):c.172C>G (p.Leu58Val)	SH2B3 (L58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1805838	NM_005475.3(SH2B3):c.1228del (p.Gly409_Ile410insTer)	SH2B3	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1686321	NM_005475.3(SH2B3):c.112G>A (p.Ala38Thr)	SH2B3 (A38T)	Single nucleotide variant (missense variant)	not specified	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 1685101	NM_005475.3(SH2B3):c.794G>A (p.Arg265Gln)	SH2B3 (R265Q +1 more)	Single nucleotide variant (missense variant)	not specified	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 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 1337877	NM_005475.3(SH2B3):c.639C>A (p.Ser213Arg)	SH2B3 (S213R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1336180	NM_005475.3(SH2B3):c.1426C>T (p.Leu476Phe)	SH2B3 (L274F +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
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 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 1299799	NM_005475.3(SH2B3):c.-28+5G>A	SH2B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298558	NM_005475.3(SH2B3):c.449C>A (p.Ser150Ter)	SH2B3 (S150*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1288024	NM_005475.3(SH2B3):c.732+57T>A	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285139	NM_005475.3(SH2B3):c.1236+4TGGGG[6]	SH2B3	Microsatellite (intron variant)	not specified	GLikely benign
Select item 1281022	NM_005475.3(SH2B3):c.733-142T>C	SH2B3	Single nucleotide variant (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 1265448	NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)	SH2B3 (W262R +1 more)	Single nucleotide variant (missense variant)	Primary familial polycythemia due to EPO receptor mutation +3 more	GBenign
Select item 1250838	NM_005475.3(SH2B3):c.1236+4TGGGG[4]	SH2B3	Microsatellite (intron variant)	not provided	GBenign
Select item 1250441	NM_005475.3(SH2B3):c.544T>C (p.Phe182Leu)	SH2B3 (F182L)	Single nucleotide variant (missense variant)	SH2B3-related condition +1 more	GBenign
Select item 1250173	NM_005475.3(SH2B3):c.-27-245A>G	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 1246850	NM_005475.3(SH2B3):c.733-268G>C	SH2B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221051	NM_005475.3(SH2B3):c.*178G>A	SH2B3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 980455	GRCh37/hg19 12q24.12(chr12:111870610-112123552)x3	BRAP, ATXN2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
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 787931	NM_005475.3(SH2B3):c.1523G>A (p.Arg508Gln)	SH2B3 (R508Q +1 more)	Single nucleotide variant (missense variant)	SH2B3-related condition +1 more	GBenign/Likely benign
Select item 743164	NM_005475.3(SH2B3):c.333C>T (p.Ala111=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733920	NM_005475.3(SH2B3):c.795G>A (p.Arg265=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733919	NM_005475.3(SH2B3):c.729C>T (p.Pro243=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732661	NM_005475.3(SH2B3):c.1031C>T (p.Pro344Leu)	SH2B3 (P344L +1 more)	Single nucleotide variant (missense variant)	SH2B3-related condition +2 more	GLikely benign
Select item 714571	NM_005475.3(SH2B3):c.540G>A (p.Lys180=)	SH2B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 624470	GRCh37/hg19 12q24.12(chr12:111861041-112280895)x3	ATXN2, BRAP +4 more	Copy number gain	not provided	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 501688	NM_005475.3(SH2B3):c.908_918del (p.Ser303fs)	SH2B3 (S101fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 380743	NM_005475.3(SH2B3):c.494C>G (p.Thr165Ser)	SH2B3 (T165S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	ABTB3, ACACB +316 more	Copy number loss	See cases	GPathogenic
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)	CUX2, SH2B3 (E208Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67 +3 more	GConflicting classifications of pathogenicity
Select item 30444	NM_005475.3(SH2B3):c.603_607del (p.Arg202fs)	SH2B3 (R202fs)	Deletion (frameshift variant)	Primary myelofibrosis	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 96