"Revvity Omics, Revvity"[submitter] AND "SPTA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436357	NM_003126.4(SPTA1):c.7252_7258del (p.Gly2418fs)	OR10Z1, SPTA1 (G2418fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2436367	NM_003126.4(SPTA1):c.7250T>C (p.Phe2417Ser)	OR10Z1, SPTA1 (F2417S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2690080	NM_003126.4(SPTA1):c.7241A>G (p.Asn2414Ser)	OR10Z1, SPTA1 (N2414S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2433795	NM_003126.4(SPTA1):c.7201C>T (p.Arg2401Ter)	OR10Z1, SPTA1 (R2401*)	Single nucleotide variant (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 2433811	NM_003126.4(SPTA1):c.7135-1G>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2690088	NM_001004478.2(OR10Z1):c.*4012G>A	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2433761	NM_003126.4(SPTA1):c.7134+2T>G	SPTA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2436331	NM_003126.4(SPTA1):c.7119AGA[1] (p.Glu2374del)	SPTA1 (E2374del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2690081	NM_003126.4(SPTA1):c.7094_7095inv (p.Ala2365Val)	SPTA1 (A2365V)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2690104	NM_003126.4(SPTA1):c.7091T>C (p.Leu2364Pro)	SPTA1 (L2364P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690078	NM_003126.4(SPTA1):c.7071A>G (p.Ile2357Met)	SPTA1 (I2357M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690108	NM_003126.4(SPTA1):c.7016A>G (p.Tyr2339Cys)	SPTA1 (Y2339C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 292938	NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu)	SPTA1 (K2331E)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 2436384	NM_003126.4(SPTA1):c.6974C>T (p.Ala2325Val)	SPTA1 (A2325V)	Single nucleotide variant (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)	SPTA1-related disorder +4 more	GUncertain significance
Select item 2436365	NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His)	SPTA1 (R2290H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 292941	NM_003126.4(SPTA1):c.6868C>T (p.Arg2290Cys)	SPTA1 (R2290C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 292942	NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)	SPTA1 (D2284G)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GUncertain significance
Select item 2436336	NM_003126.4(SPTA1):c.6842+5del	SPTA1	Deletion (intron variant)	not provided	GUncertain significance
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 2690079	NM_003126.4(SPTA1):c.6710G>A (p.Gly2237Glu)	SPTA1 (G2237E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436327	NM_003126.4(SPTA1):c.6600+5G>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2690096	NM_003126.4(SPTA1):c.6600+4del	SPTA1	Deletion (intron 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	GUncertain significance
Select item 2690107	NM_003126.4(SPTA1):c.6407A>C (p.Asp2136Ala)	SPTA1 (D2136A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 292954	NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser)	SPTA1 (T2120S)	Single nucleotide variant (missense variant)	not provided +3 more	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 2690495	NM_003126.4(SPTA1):c.6335T>G (p.Leu2112Ter)	SPTA1 (L2112*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2031673	NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)	SPTA1 (Q2107*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2436322	NM_003126.4(SPTA1):c.6272C>T (p.Ser2091Phe)	SPTA1 (S2091F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690097	NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)	SPTA1 (D2084H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2436333	NM_003126.4(SPTA1):c.6236G>A (p.Arg2079Gln)	SPTA1 (R2079Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 876010	NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)	SPTA1 (R2079W)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 1723630	NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)	SPTA1 (A2052fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2436340	NM_003126.4(SPTA1):c.6107T>G (p.Leu2036Arg)	SPTA1 (L2036R)	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 2690084	NM_003126.4(SPTA1):c.6025C>T (p.Arg2009Cys)	SPTA1 (R2009C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436335	NM_003126.4(SPTA1):c.6004C>A (p.Gln2002Lys)	SPTA1 (Q2002K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436369	NM_003126.4(SPTA1):c.5989T>C (p.Ser1997Pro)	SPTA1 (S1997P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690102	NM_003126.4(SPTA1):c.5965A>G (p.Thr1989Ala)	SPTA1 (T1989A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690726	NM_003126.4(SPTA1):c.5944C>T (p.Gln1982Ter)	SPTA1 (Q1982*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690720	NM_003126.4(SPTA1):c.5833+1G>A	SPTA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2436378	NM_003126.4(SPTA1):c.5803T>G (p.Trp1935Gly)	SPTA1 (W1935G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433802	NM_003126.4(SPTA1):c.5665-2A>G	SPTA1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2433800	NM_003126.4(SPTA1):c.5566-2A>T	SPTA1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2428537	NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)	SPTA1 (R1811*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2436372	NM_003126.4(SPTA1):c.5351C>T (p.Ala1784Val)	SPTA1 (A1784V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690103	NM_003126.4(SPTA1):c.5310G>C (p.Gln1770His)	SPTA1 (Q1770H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690095	NM_003126.4(SPTA1):c.5297_5302dup (p.Pro1767_Ala1768insGluPro)	SPTA1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2690109	NM_003126.4(SPTA1):c.5287G>A (p.Val1763Met)	SPTA1 (V1763M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436387	NM_003126.4(SPTA1):c.5285T>G (p.Leu1762Arg)	SPTA1 (L1762R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690105	NM_003126.4(SPTA1):c.5270G>T (p.Arg1757Leu)	SPTA1 (R1757L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690723	NM_003126.4(SPTA1):c.5249del (p.Asn1750fs)	SPTA1 (N1750fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2436332	NM_003126.4(SPTA1):c.5238G>C (p.Gln1746His)	SPTA1 (Q1746H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436323	NM_003126.4(SPTA1):c.5238G>T (p.Gln1746His)	SPTA1 (Q1746H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690072	NM_003126.4(SPTA1):c.5180C>T (p.Ser1727Phe)	SPTA1 (S1727F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418853	NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)	SPTA1 (L1701*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
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 2690089	NM_003126.4(SPTA1):c.4995C>A (p.Asp1665Glu)	SPTA1 (D1665E)	Single nucleotide variant (missense 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 2690721	NM_003126.4(SPTA1):c.4871C>G (p.Ser1624Ter)	SPTA1 (S1624*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 876251	NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)	SPTA1 (R1617Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2690085	NM_003126.4(SPTA1):c.4833G>T (p.Arg1611Ser)	SPTA1 (R1611S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690106	NM_003126.4(SPTA1):c.4768G>C (p.Asp1590His)	SPTA1 (D1590H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436359	NM_003126.4(SPTA1):c.4757A>C (p.Lys1586Thr)	SPTA1 (K1586T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436338	NM_003126.4(SPTA1):c.4733T>A (p.Met1578Lys)	SPTA1 (M1578K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2436354	NM_003126.4(SPTA1):c.4702_4703inv (p.Cys1568His)	SPTA1 (C1568H)	Inversion (missense variant)	not provided	GUncertain significance
Select item 292981	NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)	SPTA1 (L1565Q)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 2438362	NM_003126.4(SPTA1):c.4632dup (p.Ala1545fs)	SPTA1 (A1545fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 741541	NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)	SPTA1 (A1531P)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2690073	NM_003126.4(SPTA1):c.4520G>A (p.Arg1507Gln)	SPTA1 (R1507Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400687	NM_003126.4(SPTA1):c.4448A>G (p.Lys1483Arg)	SPTA1 (K1483R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 292985	NM_003126.4(SPTA1):c.4418C>T (p.Thr1473Met)	SPTA1 (T1473M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2436355	NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys)	SPTA1 (E1470K)	Single nucleotide variant (missense variant)	not provided +1 more	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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2433780	NM_003126.4(SPTA1):c.4339-1G>T	SPTA1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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)	Elliptocytosis 2 +5 more	GPathogenic
Select item 2436344	NM_003126.4(SPTA1):c.4306C>T (p.Arg1436Trp)	SPTA1 (R1436W)	Single nucleotide variant (missense variant)	not provided	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 1325124	NM_003126.4(SPTA1):c.4194+1del	SPTA1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1310271	NM_003126.4(SPTA1):c.4159C>T (p.Arg1387Cys)	SPTA1 (R1387C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2203768	NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)	SPTA1 (L1370fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 806250	NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His)	SPTA1 (R1335H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 292989	NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)	SPTA1 (D1280G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 292990	NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)	SPTA1 (R1277C)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 2690100	NM_003126.4(SPTA1):c.3751G>A (p.Glu1251Lys)	SPTA1 (E1251K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811193	NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)	SPTA1 (R1248W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2436352	NM_003126.4(SPTA1):c.3710A>C (p.Asp1237Ala)	SPTA1 (D1237A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436319	NM_003126.4(SPTA1):c.3699A>G (p.Val1233=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 292991	NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)	SPTA1 (V1233I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1928641	NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg)	SPTA1 (H1225R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1302982	NM_003126.4(SPTA1):c.3670C>T (p.Arg1224Trp)	SPTA1 (R1224W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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