ClinVar for MedGen (Select 357139) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892553	NM_001355436.2(SPTB):c.508C>T (p.Arg170Cys)	SPTB (R170C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3892552	NM_001355436.2(SPTB):c.4072C>T (p.His1358Tyr)	SPTB (H1358Y)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3892551	NM_001355436.2(SPTB):c.3155G>A (p.Gly1052Asp)	SPTB (G1052D)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3892550	NM_001355436.2(SPTB):c.257G>A (p.Arg86His)	SPTB (R86H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GUncertain significance
Select item 3629453	NM_001355436.2(SPTB):c.6219+1G>C	SPTB	Single nucleotide variant (splice donor variant)	Elliptocytosis 3	GLikely pathogenic
Select item 3576659	NM_001355436.2(SPTB):c.3262del (p.Asp1088fs)	SPTB (D1088fs)	Deletion (frameshift variant)	Elliptocytosis 3 +1 more	GLikely pathogenic
Select item 3576658	NM_001355436.2(SPTB):c.4589A>G (p.His1530Arg)	SPTB (H1530R)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +1 more	GUncertain significance
Select item 3383058	NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)	SPTB (Q1118*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GLikely pathogenic
Select item 3382350	NM_001355436.2(SPTB):c.3114delinsAAACAT (p.His1038fs)	SPTB (H1038fs)	Indel (frameshift variant)	Hereditary spherocytosis type 2 +1 more	GLikely pathogenic
Select item 3338264	NM_001355436.2(SPTB):c.6175G>C (p.Ala2059Pro)	SPTB (A2059P)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GLikely pathogenic
Select item 3169508	NM_001355436.2(SPTB):c.3623G>A (p.Arg1208Gln)	SPTB (R1208Q)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +2 more	GUncertain significance
Select item 2507948	NM_001355436.2(SPTB):c.5899G>A (p.Glu1967Lys)	SPTB (E1967K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2466517	NM_001355436.2(SPTB):c.2593G>A (p.Gly865Arg)	SPTB (G865R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395920	NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)	SPTB (K503N)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +2 more	GUncertain significance
Select item 1996965	NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter)	SPTB (E1030*)	Single nucleotide variant (nonsense)	Elliptocytosis 3 +2 more	GPathogenic/Likely pathogenic
Select item 1687184	NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln)	SPTB (E2075Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683563	NM_001355436.2(SPTB):c.3764+8C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis 3 +1 more	GUncertain significance
Select item 1679426	NM_001355436.2(SPTB):c.3764+9G>A	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +2 more	GBenign/Likely benign
Select item 1339570	NM_001355436.2(SPTB):c.3818_3832delinsGT (p.Asn1273fs)	SPTB (N1273fs)	Indel (frameshift variant)	Elliptocytosis 3	GPathogenic
Select item 1326902	NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val)	SPTB (G1507V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis +2 more	Gnot provided
Select item 1028697	NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly)	SPTB (W2061G)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GUncertain significance
Select item 1028696	NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)	SPTB (K1369E)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +2 more	GConflicting classifications of pathogenicity
Select item 994361	NM_001355436.2(SPTB):c.4474-17C>T	SPTB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 994306	NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser)	SPTB (G291S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 869462	NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys)	SPTB (F2014C)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GUncertain significance
Select item 807128	NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del)	SPTB (E2119del)	Microsatellite (inframe_deletion)	Elliptocytosis 3 +2 more	GUncertain significance
Select item 544811	NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)	SPTB (R216Q)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +3 more	GConflicting classifications of pathogenicity
Select item 313785	NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)	SPTB (N9T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 313761	NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)	SPTB (D536N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 313705	NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)	SPTB (R1972Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 279902	NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)	SPTB (A1884V)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 12843	NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter)	SPTB (R1756*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 12840	NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro)	SPTB (R2064P)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GPathogenic
Select item 12837	NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)	SPTB (S2019P)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 12836	NM_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly)	SPTB (A2018G)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +1 more	GPathogenic
Select item 12834	NM_001355436.2(SPTB):c.6177del (p.Ser2060fs)	SPTB (S2060fs)	Deletion (frameshift variant)	Elliptocytosis 3	GPathogenic
Select item 12833	NM_001355436.2(SPTB):c.6135_6136dup (p.Lys2046fs)	SPTB (K2046fs)	Microsatellite (frameshift variant)	Elliptocytosis 3	GPathogenic
Select item 12832	NM_001355436.2(SPTB):c.6269+3G>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis 3	GPathogenic
Select item 12831	NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro)	SPTB (A2053P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 39