ClinVar for MedGen (Select 141708) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382312	NM_003126.4(SPTA1):c.2167C>T (p.Gln723Ter)	SPTA1 (Q723*)	Single nucleotide variant (nonsense)	Elliptocytosis 2 +2 more	GLikely pathogenic
Select item 3075738	NM_003126.4(SPTA1):c.1422G>T (p.Gln474His)	SPTA1 (Q474H)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +2 more	GUncertain significance
Select item 3062301	NM_003126.4(SPTA1):c.5581del (p.His1861fs)	SPTA1 (H1861fs)	Deletion (frameshift variant)	Pyropoikilocytosis, hereditary +1 more	GLikely pathogenic
Select item 3062300	NM_003126.4(SPTA1):c.6331del (p.Ala2111fs)	SPTA1 (A2111fs)	Deletion (frameshift variant)	Pyropoikilocytosis, hereditary +1 more	GLikely pathogenic
Select item 2585544	NM_003126.4(SPTA1):c.4520G>C (p.Arg1507Pro)	SPTA1 (R1507P)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary	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 1275640	NM_003126.4(SPTA1):c.264+46T>C	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +3 more	GBenign
Select item 1270325	NM_003126.4(SPTA1):c.813-45A>G	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1267153	NM_003126.4(SPTA1):c.5189+35A>C	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +3 more	GBenign
Select item 1253423	NM_003126.4(SPTA1):c.3570-37T>A	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1222297	NM_003126.4(SPTA1):c.6548+45A>C	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1182594	NM_003126.4(SPTA1):c.25-25G>T	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1030630	NM_003126.4(SPTA1):c.4339-99C>T	SPTA1	Single nucleotide variant (intron variant)	Pyropoikilocytosis, hereditary +4 more	GPathogenic
Select item 876892	NM_003126.4(SPTA1):c.957+7C>T	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 876891	NM_003126.4(SPTA1):c.958-12T>C	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 876839	NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys)	SPTA1, OR10Z1 (G2400C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 876787	NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys)	SPTA1 (E530K)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GUncertain significance
Select item 876740	NM_003126.4(SPTA1):c.1981C>T (p.Arg661Cys)	SPTA1 (R661C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 876648	NM_003126.4(SPTA1):c.2479G>C (p.Ala827Pro)	SPTA1 (A827P)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 876465	NM_003126.4(SPTA1):c.3715-11T>C	SPTA1	Single nucleotide variant (intron variant)	Pyropoikilocytosis, hereditary +2 more	GConflicting classifications of pathogenicity
Select item 876370	NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr)	SPTA1 (A1570T)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GUncertain significance
Select item 876335	NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His)	SPTA1 (Q1683H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +4 more	GConflicting classifications of pathogenicity
Select item 876252	NM_003126.4(SPTA1):c.4849C>A (p.Arg1617=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +2 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 876250	NM_003126.4(SPTA1):c.4857T>C (p.Phe1619=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 876085	NM_003126.4(SPTA1):c.204G>C (p.Trp68Cys)	SPTA1 (W68C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 876084	NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=)	SPTA1	Single nucleotide variant (synonymous variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 876012	NM_003126.4(SPTA1):c.521T>C (p.Ile174Thr)	SPTA1 (I174T)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 876011	NM_003126.4(SPTA1):c.551T>G (p.Val184Gly)	SPTA1 (V184G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 876010	NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)	SPTA1 (R2079W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 876009	NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu)	SPTA1 (R2079L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 875891	NM_003126.4(SPTA1):c.966G>A (p.Glu322=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 875845	NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile)	SPTA1, OR10Z1 (V2410I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 875844	NM_003126.4(SPTA1):c.7237A>T (p.Thr2413Ser)	SPTA1, OR10Z1 (T2413S)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 875791	NM_003126.4(SPTA1):c.*319C>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 875701	NM_003126.4(SPTA1):c.2365C>G (p.Leu789Val)	SPTA1 (L789V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 875600	NM_003126.4(SPTA1):c.2846A>G (p.Asn949Ser)	SPTA1 (N949S)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 875549	NM_003126.4(SPTA1):c.3109G>A (p.Asp1037Asn)	SPTA1 (D1037N)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 875289	NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)	SPTA1 (F1621Y)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 875288	NM_003126.4(SPTA1):c.4875+12C>T	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 875178	NM_003126.4(SPTA1):c.47A>T (p.Lys16Met)	SPTA1 (K16M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 875125	NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)	SPTA1 (S109F)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 875076	NM_003126.4(SPTA1):c.6372G>A (p.Val2124=)	SPTA1	Single nucleotide variant (synonymous variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 875024	NM_003126.4(SPTA1):c.6601-10G>A	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 875023	NM_003126.4(SPTA1):c.6621G>A (p.Gln2207=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874967	NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)	SPTA1 (A392V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 874966	NM_003126.4(SPTA1):c.6989+8C>A	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874910	NM_003126.4(SPTA1):c.1409G>A (p.Arg470His)	SPTA1 (R470H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GUncertain significance
Select item 874909	NM_003126.4(SPTA1):c.1489G>T (p.Ala497Ser)	SPTA1 (A497S)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874858	NM_003126.4(SPTA1):c.*341T>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874857	NM_003126.4(SPTA1):c.*379G>A	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874810	NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser)	SPTA1 (R701S)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GUncertain significance
Select item 874707	NM_003126.4(SPTA1):c.2588-3T>C	SPTA1	Single nucleotide variant (intron variant)	Elliptocytosis 2 +3 more	GUncertain significance
Select item 874706	NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)	SPTA1 (A867E)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 874463	NM_003126.4(SPTA1):c.4224G>C (p.Glu1408Asp)	SPTA1 (E1408D)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874462	NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)	SPTA1 (R1414C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 874368	NM_003126.4(SPTA1):c.4936C>T (p.Leu1646Phe)	SPTA1 (L1646F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 874308	NM_003126.4(SPTA1):c.5311-4T>A	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 874200	NM_003126.4(SPTA1):c.410G>A (p.Arg137His)	SPTA1 (R137H)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	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 874146	NM_003126.4(SPTA1):c.749G>A (p.Arg250His)	SPTA1 (R250H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 874036	NM_003126.4(SPTA1):c.1266C>T (p.Tyr422=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 874035	NM_003126.4(SPTA1):c.1330T>G (p.Ser444Ala)	SPTA1 (S444A)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873914	NM_003126.4(SPTA1):c.1833+4G>A	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873913	NM_003126.4(SPTA1):c.*387T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 873912	NM_003126.4(SPTA1):c.*420T>A	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873911	NM_003126.4(SPTA1):c.*509G>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873858	NM_003126.4(SPTA1):c.2187C>G (p.His729Gln)	SPTA1 (H729Q)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873857	NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met)	SPTA1 (L749M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 873803	NM_003126.4(SPTA1):c.2464+13T>G	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873753	NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val)	SPTA1 (A871V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 873680	NM_003126.4(SPTA1):c.2875C>T (p.Arg959Trp)	SPTA1 (R959W)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GUncertain significance
Select item 873679	NM_003126.4(SPTA1):c.2899-10T>A	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 873678	NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys)	SPTA1 (R991C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 811061	NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)	SPTA1 (V870M)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +4 more	GConflicting classifications of pathogenicity
Select item 806249	NM_003126.4(SPTA1):c.5270G>A (p.Arg1757His)	SPTA1 (R1757H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GUncertain significance
Select item 801566	NM_003126.4(SPTA1):c.570G>A (p.Trp190Ter)	SPTA1 (W190*)	Single nucleotide variant (nonsense)	Pyropoikilocytosis, hereditary	GLikely pathogenic
Select item 801565	NM_003126.4(SPTA1):c.1833+1G>A	SPTA1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 801564	NM_003126.4(SPTA1):c.6417G>C (p.Glu2139Asp)	SPTA1 (E2139D)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary	GLikely pathogenic
Select item 777561	NM_003126.4(SPTA1):c.1351-4A>G	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 775147	NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)	SPTA1 (R250C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 741540	NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=)	SPTA1	Single nucleotide variant (synonymous variant)	Pyropoikilocytosis, hereditary +3 more	GConflicting classifications of pathogenicity
Select item 709190	NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)	SPTA1 (N394S)	Single nucleotide variant (missense variant)	not provided +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 618389	NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp)	SPTA1 (G151D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 618385	NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)	SPTA1 (E11D)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 618384	NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)	SPTA1 (R568H)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 561993	NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter)	SPTA1 (R1659*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 544820	NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)	SPTA1 (R563Q)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GConflicting classifications of pathogenicity
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 313766	NM_001355436.2(SPTB):c.1493G>A (p.Arg498His)	SPTB (R498H)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +3 more	GUncertain significance
Select item 293067	NM_003126.4(SPTA1):c.-126_-125insTC	SPTA1	Insertion (5 prime UTR variant)	Elliptocytosis +2 more	GLikely benign
Select item 293066	NM_003126.4(SPTA1):c.-126dup	SPTA1	Duplication (5 prime UTR variant)	Pyropoikilocytosis, hereditary +3 more	GBenign/Likely benign
Select item 293065	NM_003126.4(SPTA1):c.-121dup	SPTA1	Duplication (5 prime UTR variant)	Pyropoikilocytosis, hereditary +2 more	GUncertain significance
Select item 293064	NM_003126.4(SPTA1):c.-58CT[16]	SPTA1	Microsatellite (5 prime UTR variant)	Pyropoikilocytosis, hereditary +2 more	GUncertain significance
Select item 293063	NM_003126.4(SPTA1):c.-58CT[12]	SPTA1	Microsatellite (5 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 293062	NM_003126.4(SPTA1):c.10T>C (p.Phe4Leu)	SPTA1 (F4L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance

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