"Revvity Omics, Revvity"[submitter] AND "SPTB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436418	NM_001355436.2(SPTB):c.6937G>A (p.Gly2313Ser)	PLEKHG3, SPTB (G2313S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2436443	NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del)	PLEKHG3, SPTB (K2253del)	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2690138	NM_001355436.2(SPTB):c.6627G>C (p.Val2209=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2436452	NM_001355436.2(SPTB):c.6509C>T (p.Pro2170Leu)	SPTB (P2170L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2436448	NM_001355436.2(SPTB):c.6503C>T (p.Thr2168Met)	SPTB (T2168M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995612	NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr)	SPTB (A2167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 546743	NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys)	SPTB (E2162K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2436445	NM_001355436.2(SPTB):c.6473C>A (p.Thr2158Lys)	SPTB (T2158K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694101	NM_001355436.2(SPTB):c.6396_6398dup (p.Gly2133_Gln2134insGly)	SPTB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2690112	NM_001355436.2(SPTB):c.6269+6T>A	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436441	NM_001355436.2(SPTB):c.6269+6T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 313702	NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His)	SPTB (R2079H)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 1325130	NM_001355436.2(SPTB):c.6224A>G (p.Glu2075Gly)	SPTB (E2075G)	Single nucleotide variant (missense variant)	not provided	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 2690735	NM_001355436.2(SPTB):c.6188_6189del (p.Glu2063fs)	SPTB (E2063fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 12831	NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro)	SPTB (A2053P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1330647	NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs)	SPTB (T2040fs)	Microsatellite (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 12839	NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)	SPTB (L2025R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2433899	NM_001355436.2(SPTB):c.6071G>A (p.Trp2024Ter)	SPTB (W2024*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1163366	NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)	SPTB (A2023V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +2 more	GConflicting classifications of pathogenicity
Select item 811398	NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro)	SPTB (A2021P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690114	NM_001355436.2(SPTB):c.6056C>T (p.Ser2019Phe)	SPTB (S2019F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12837	NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)	SPTB (S2019P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2335647	NM_001355436.2(SPTB):c.6017G>A (p.Arg2006His)	SPTB (R2006H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690147	NM_001355436.2(SPTB):c.6010C>G (p.Arg2004Gly)	SPTB (R2004G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690748	NM_001355436.2(SPTB):c.5975_5976del (p.Lys1992fs)	SPTB (K1992fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433977	NM_001355436.2(SPTB):c.5938-1G>A	SPTB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2438381	NM_001355436.2(SPTB):c.5902del (p.Ser1968fs)	SPTB (S1968fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1376933	NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2690753	NM_001355436.2(SPTB):c.5886C>A (p.Cys1962Ter)	SPTB (C1962*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2433896	NM_001355436.2(SPTB):c.5856del (p.Ile1952fs)	SPTB (I1952fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2433984	NM_001355436.2(SPTB):c.5850del (p.Glu1951fs)	SPTB (E1951fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690499	NM_001355436.2(SPTB):c.5801dup (p.Asp1934fs)	SPTB (D1934fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2527574	NM_001355436.2(SPTB):c.5771G>A (p.Arg1924Gln)	SPTB (R1924Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436416	NM_001355436.2(SPTB):c.5763C>G (p.Ser1921Arg)	SPTB (S1921R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690737	NM_001355436.2(SPTB):c.5731dup (p.Met1911fs)	SPTB (M1911fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2436425	NM_001355436.2(SPTB):c.5720G>A (p.Arg1907His)	SPTB (R1907H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690733	NM_001355436.2(SPTB):c.5686_5692dup (p.Gln1898fs)	SPTB (Q1898fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2046271	NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala)	SPTB (T1897A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2436427	NM_001355436.2(SPTB):c.5684G>A (p.Arg1895His)	SPTB (R1895H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433913	NM_001355436.2(SPTB):c.5566C>T (p.Gln1856Ter)	SPTB (Q1856*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690135	NM_001355436.2(SPTB):c.5528G>A (p.Arg1843Gln)	SPTB (R1843Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433991	NM_001355436.2(SPTB):c.5362_5363del (p.Thr1788fs)	SPTB (T1788fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2433961	NM_001355436.2(SPTB):c.5337G>A (p.Trp1779Ter)	SPTB (W1779*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 12843	NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter)	SPTB (R1756*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1325134	NM_001355436.2(SPTB):c.5243_5244insAA (p.Asp1748fs)	SPTB (D1748fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2436429	NM_001355436.2(SPTB):c.5237G>A (p.Arg1746Gln)	SPTB (R1746Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436406	NM_001355436.2(SPTB):c.5233G>C (p.Glu1745Gln)	SPTB (E1745Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2436404	NM_001355436.2(SPTB):c.5227G>A (p.Gly1743Arg)	SPTB (G1743R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690148	NM_001355436.2(SPTB):c.5209C>T (p.Arg1737Trp)	SPTB (R1737W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690739	NM_001355436.2(SPTB):c.5178del (p.Leu1727fs)	SPTB (L1727fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433830	NM_001355436.2(SPTB):c.5176del (p.Thr1726fs)	SPTB (T1726fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2436431	NM_001355436.2(SPTB):c.5101G>A (p.Asp1701Asn)	SPTB (D1701N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433862	NM_001355436.2(SPTB):c.5080C>T (p.Gln1694Ter)	SPTB (Q1694*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690136	NM_001355436.2(SPTB):c.5032G>A (p.Val1678Met)	SPTB (V1678M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690127	NM_001355436.2(SPTB):c.4973+5G>C	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 544813	NM_001355436.2(SPTB):c.4973+5G>A	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2690125	NM_001355436.2(SPTB):c.4973G>A (p.Gly1658Glu)	SPTB (G1658E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436410	NM_001355436.2(SPTB):c.4946G>A (p.Gly1649Asp)	SPTB (G1649D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690118	NM_001355436.2(SPTB):c.4936C>T (p.Arg1646Trp)	SPTB (R1646W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428672	NM_001355436.2(SPTB):c.4934G>A (p.Ser1645Asn)	SPTB (S1645N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433823	NM_001355436.2(SPTB):c.4924C>T (p.Gln1642Ter)	SPTB (Q1642*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690121	NM_001355436.2(SPTB):c.4912C>T (p.Arg1638Trp)	SPTB (R1638W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690133	NM_001355436.2(SPTB):c.4897G>A (p.Val1633Met)	SPTB (V1633M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436442	NM_001355436.2(SPTB):c.4892G>T (p.Arg1631Leu)	SPTB (R1631L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453666	NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter)	SPTB (R1625*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 2436434	NM_001355436.2(SPTB):c.4819G>A (p.Val1607Ile)	SPTB (V1607I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690120	NM_001355436.2(SPTB):c.4751A>G (p.Asn1584Ser)	SPTB (N1584S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436453	NM_001355436.2(SPTB):c.4736G>A (p.Arg1579Gln)	SPTB (R1579Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994256	NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)	SPTB (R1579*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2433846	NM_001355436.2(SPTB):c.4624C>T (p.Gln1542Ter)	SPTB (Q1542*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690128	NM_001355436.2(SPTB):c.4597C>T (p.Arg1533Trp)	SPTB (R1533W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690111	NM_001355436.2(SPTB):c.4595C>T (p.Pro1532Leu)	SPTB (P1532L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436424	NM_001355436.2(SPTB):c.4564-3C>A	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436407	NM_001355436.2(SPTB):c.4555A>C (p.Lys1519Gln)	SPTB (K1519Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325131	NM_001355436.2(SPTB):c.4540C>T (p.Gln1514Ter)	SPTB (Q1514*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690497	NM_001355436.2(SPTB):c.4505dup (p.Ser1503fs)	SPTB (S1503fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2433837	NM_001355436.2(SPTB):c.4398_4399dup (p.Leu1467fs)	SPTB (L1467fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1325136	NM_001355436.2(SPTB):c.4399del (p.Pro1466_Leu1467insTer)	SPTB	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 2436449	NM_001355436.2(SPTB):c.4376G>A (p.Arg1459Gln)	SPTB (R1459Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436432	NM_001355436.2(SPTB):c.4362G>C (p.Leu1454Phe)	SPTB (L1454F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690738	NM_001355436.2(SPTB):c.4310del (p.Glu1437fs)	SPTB (E1437fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1163075	NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)	SPTB (R1431*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2436428	NM_001355436.2(SPTB):c.4278C>A (p.Asp1426Glu)	SPTB (D1426E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812019	NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter)	SPTB (R1423*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2690498	NM_001355436.2(SPTB):c.4267-1G>A	SPTB	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2690115	NM_001355436.2(SPTB):c.4266+5G>T	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2690145	NM_001355436.2(SPTB):c.4247G>A (p.Arg1416Gln)	SPTB (R1416Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433931	NM_001355436.2(SPTB):c.4201C>T (p.Gln1401Ter)	SPTB (Q1401*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2433818	NM_001355436.2(SPTB):c.4156C>T (p.Gln1386Ter)	SPTB (Q1386*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690731	NM_001355436.2(SPTB):c.4127C>A (p.Ser1376Ter)	SPTB (S1376*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690740	NM_001355436.2(SPTB):c.4101del (p.Thr1368fs)	SPTB (T1368fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 313732	NM_001355436.2(SPTB):c.4076G>A (p.Arg1359Gln)	SPTB (R1359Q)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 1325127	NM_001355436.2(SPTB):c.4033C>T (p.Gln1345Ter)	SPTB (Q1345*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2433915	NM_001355436.2(SPTB):c.3941del (p.Lys1314fs)	SPTB (K1314fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1325137	NM_001355436.2(SPTB):c.3935G>A (p.Trp1312Ter)	SPTB (W1312*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 544816	NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)	SPTB (R1306*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2690754	NM_001355436.2(SPTB):c.3856-1G>A	SPTB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2690126	NM_001355436.2(SPTB):c.3836T>A (p.Phe1279Tyr)	SPTB (F1279Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325129	NM_001355436.2(SPTB):c.3791del (p.Gln1264fs)	SPTB (Q1264fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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