"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SPTA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683188	NM_003126.4(SPTA1):c.7199del (p.Gly2400fs)	OR10Z1, SPTA1 (G2400fs)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1694056	NM_003126.4(SPTA1):c.7189G>A (p.Asp2397Asn)	OR10Z1, SPTA1 (D2397N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1163164	NM_003126.4(SPTA1):c.7181_7182del (p.Gln2394fs)	OR10Z1, SPTA1 (Q2394fs)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 3379979	NM_003126.4(SPTA1):c.7163G>A (p.Cys2388Tyr)	OR10Z1, SPTA1 (C2388Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1705950	NM_003126.4(SPTA1):c.7135_7137delinsTATAAATGACA (p.Ala2379delinsTyrLysTer)	OR10Z1, SPTA1	Indel (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 292936	NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)	SPTA1 (K2368N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1330846	NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu)	SPTA1 (A2365E)	Indel (missense variant)	not provided	GUncertain significance
Select item 292939	NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe)	SPTA1 (C2299F)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GUncertain significance
Select item 292940	NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)	SPTA1 (R2297W)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 993964	NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer)	SPTA1	Deletion (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 292942	NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)	SPTA1 (D2284G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 292943	NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)	SPTA1 (D2284N)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +3 more	GConflicting classifications of pathogenicity
Select item 3379984	NM_003126.4(SPTA1):c.6825A>T (p.Glu2275Asp)	SPTA1 (E2275D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030633	NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs)	SPTA1 (E2271fs)	Microsatellite (frameshift variant)	Elliptocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1705957	NM_003126.4(SPTA1):c.6788+1G>A	SPTA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2409153	NM_003126.4(SPTA1):c.6752G>A (p.Arg2251Gln)	SPTA1 (R2251Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2683194	NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter)	SPTA1 (L2250*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1694062	NM_003126.4(SPTA1):c.6689A>G (p.Asp2230Gly)	SPTA1 (D2230G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 292950	NM_003126.4(SPTA1):c.6549-4C>G	SPTA1	Single nucleotide variant (intron variant)	Elliptocytosis 2 +3 more	GUncertain significance
Select item 2682663	NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile)	SPTA1 (R2151I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258953	NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)	SPTA1 (Q2146R)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +4 more	GConflicting classifications of pathogenicity
Select item 544821	NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)	SPTA1 (R2141W)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 1163165	NM_003126.4(SPTA1):c.6418-23T>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1033568	NM_003126.4(SPTA1):c.6414del (p.Ile2138fs)	SPTA1 (I2138fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2958718	NM_003126.4(SPTA1):c.6353C>T (p.Pro2118Leu)	SPTA1 (P2118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436328	NM_003126.4(SPTA1):c.6341T>A (p.Val2114Glu)	SPTA1 (V2114E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163166	NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs)	SPTA1 (R2079fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1723630	NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)	SPTA1 (A2052fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1694065	NM_003126.4(SPTA1):c.6136G>A (p.Val2046Met)	SPTA1 (V2046M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 292956	NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1163167	NM_003126.4(SPTA1):c.6047G>T (p.Arg2016Leu)	SPTA1 (R2016L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874199	NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His)	SPTA1 (R2016H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GUncertain significance
Select item 292959	NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)	SPTA1 (D1971N)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 292961	NM_003126.4(SPTA1):c.5911-17_5911-8del	SPTA1	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 292964	NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)	SPTA1 (A1929G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1163168	NM_003126.4(SPTA1):c.5665-24T>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2222192	NM_003126.4(SPTA1):c.5616G>C (p.Glu1872Asp)	SPTA1 (E1872D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3379996	NM_003126.4(SPTA1):c.5433-16T>A	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1694082	NM_003126.4(SPTA1):c.5432G>A (p.Arg1811Gln)	SPTA1 (R1811Q)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +1 more	GUncertain significance
Select item 292971	NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)	SPTA1 (L1804F)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 3380001	NM_003126.4(SPTA1):c.5377C>T (p.Arg1793Trp)	SPTA1 (R1793W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380007	NM_003126.4(SPTA1):c.5204G>A (p.Arg1735Gln)	SPTA1 (R1735Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163169	NM_003126.4(SPTA1):c.5190-26C>G	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2682664	NM_003126.4(SPTA1):c.5040C>A (p.Asn1680Lys)	SPTA1 (N1680K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163170	NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1694085	NM_003126.4(SPTA1):c.5030G>A (p.Gly1677Glu)	SPTA1 (G1677E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561176	NM_003126.4(SPTA1):c.5029G>A (p.Gly1677Arg)	SPTA1 (G1677R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380008	NM_003126.4(SPTA1):c.5009C>G (p.Ala1670Gly)	SPTA1 (A1670G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690089	NM_003126.4(SPTA1):c.4995C>A (p.Asp1665Glu)	SPTA1 (D1665E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694089	NM_003126.4(SPTA1):c.4981-25C>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 561993	NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter)	SPTA1 (R1659*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 874368	NM_003126.4(SPTA1):c.4936C>T (p.Leu1646Phe)	SPTA1 (L1646F)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GUncertain significance
Select item 876251	NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)	SPTA1 (R1617Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1162863	NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter)	SPTA1 (W1589*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 993702	NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)	SPTA1 (C1571G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 292981	NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)	SPTA1 (L1565Q)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +3 more	GConflicting classifications of pathogenicity
Select item 2892636	NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter)	SPTA1 (R1551*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 292982	NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg)	SPTA1 (H1546R)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +3 more	GUncertain significance
Select item 3380018	NM_003126.4(SPTA1):c.4628C>A (p.Thr1543Asn)	SPTA1 (T1543N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162864	NM_003126.4(SPTA1):c.4605+4del	SPTA1	Deletion (intron variant)	not provided	GUncertain significance
Select item 741541	NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)	SPTA1 (A1531P)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 1162865	NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs)	SPTA1 (S1527fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 292983	NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)	SPTA1 (T1522A)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +3 more	GConflicting classifications of pathogenicity
Select item 258940	NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)	SPTA1 (G1497E)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +4 more	GConflicting classifications of pathogenicity
Select item 3380024	NM_003126.4(SPTA1):c.4478G>A (p.Arg1493Gln)	SPTA1 (R1493Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258938	NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)	SPTA1 (L1485F)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2400687	NM_003126.4(SPTA1):c.4448A>G (p.Lys1483Arg)	SPTA1 (K1483R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1694096	NM_003126.4(SPTA1):c.4421G>A (p.Arg1474Gln)	SPTA1 (R1474Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2682665	NM_003126.4(SPTA1):c.4419_4420delinsTT (p.Arg1474Trp)	SPTA1 (R1474W)	Indel (missense variant)	not provided	GUncertain significance
Select item 2438369	NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)	SPTA1 (Y1466*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 985090	NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)	SPTA1 (K1449N)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 994181	NM_003126.4(SPTA1):c.4339-2A>C	SPTA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1030630	NM_003126.4(SPTA1):c.4339-99C>T	SPTA1	Single nucleotide variant (intron variant)	Pyropoikilocytosis, hereditary +4 more	GPathogenic
Select item 1162866	NM_003126.4(SPTA1):c.4339-188C>G	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380028	NM_003126.4(SPTA1):c.4307G>T (p.Arg1436Leu)	SPTA1 (R1436L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705966	NM_003126.4(SPTA1):c.4295del (p.Ala1431_Leu1432insTer)	SPTA1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 3380031	NM_003126.4(SPTA1):c.4195-1G>A	SPTA1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1162867	NM_003126.4(SPTA1):c.4182C>T (p.Cys1394=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2373008	NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val)	SPTA1 (A1353V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2682666	NM_003126.4(SPTA1):c.3880T>C (p.Phe1294Leu)	SPTA1 (F1294L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690099	NM_003126.4(SPTA1):c.3842G>A (p.Arg1281His)	SPTA1 (R1281H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 292990	NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)	SPTA1 (R1277C)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 3380043	NM_003126.4(SPTA1):c.3728G>A (p.Gly1243Glu)	SPTA1 (G1243E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682668	NM_003126.4(SPTA1):c.3700C>T (p.Pro1234Ser)	SPTA1 (P1234S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683210	NM_003126.4(SPTA1):c.3664C>T (p.Gln1222Ter)	SPTA1 (Q1222*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2397193	NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr)	SPTA1 (A1208T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683215	NM_003126.4(SPTA1):c.3494G>A (p.Trp1165Ter)	SPTA1 (W1165*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2682669	NM_003126.4(SPTA1):c.3473G>A (p.Arg1158Gln)	SPTA1 (R1158Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811397	NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp)	SPTA1 (R1133W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 393151	NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)	SPTA1 (K1119N)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 618391	NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)	SPTA1 (R1077H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2634118	NM_003126.4(SPTA1):c.3190T>C (p.Tyr1064His)	SPTA1 (Y1064H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 292997	NM_003126.4(SPTA1):c.3188+8C>G	SPTA1	Single nucleotide variant (intron variant)	Pyropoikilocytosis, hereditary +3 more	GUncertain significance
Select item 292999	NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu)	SPTA1 (R1056L)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 1162868	NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter)	SPTA1 (R1047*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 791613	NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)	SPTA1 (D1021V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1162869	NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter)	SPTA1 (S1009*)	Indel (nonsense)	not provided	GLikely pathogenic
Select item 994385	NM_003126.4(SPTA1):c.3019C>T (p.Leu1007Phe)	SPTA1 (L1007F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705971	NM_003126.4(SPTA1):c.2965_2966del (p.Gln989fs)	SPTA1 (Q989fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1408289	NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)	SPTA1 (Q980*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic

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