"GeneDx"[submitter] AND "SH2B3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1250173	NM_005475.3(SH2B3):c.-27-245A>G	SH2B3	Single nucleotide variant (intron variant)	not provided	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 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 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 380743	NM_005475.3(SH2B3):c.494C>G (p.Thr165Ser)	SH2B3 (T165S)	Single nucleotide variant (missense 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 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 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 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 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 3340696	NM_005475.3(SH2B3):c.772C>T (p.Gln258Ter)	SH2B3 (Q258* +1 more)	Single nucleotide variant (nonsense)	not provided	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 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 3368074	NM_005475.3(SH2B3):c.1164_1165dup (p.Phe389fs)	SH2B3 (F187fs +1 more)	Microsatellite (frameshift variant)	not provided	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 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 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 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 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 1221051	NM_005475.3(SH2B3):c.*178G>A	SH2B3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 25