SPTA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
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 292917	NM_003126.4(SPTA1):c.*500del	SPTA1, OR10Z1	Deletion (3 prime UTR variant)	Elliptocytosis +2 more	GLikely benign
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 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 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 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 292918	NM_003126.4(SPTA1):c.*323T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +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 292919	NM_003126.4(SPTA1):c.*296G>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 292920	NM_003126.4(SPTA1):c.*295C>T	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 292921	NM_003126.4(SPTA1):c.*294A>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 292922	NM_003126.4(SPTA1):c.*276T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 3 +3 more	GBenign
Select item 292923	NM_003126.4(SPTA1):c.*167A>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +3 more	GBenign
Select item 292924	NM_003126.4(SPTA1):c.*134T>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 292929	NM_001004478.2(OR10Z1):c.*3753AC[23]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292928	NM_001004478.2(OR10Z1):c.*3753AC[21]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292927	NM_001004478.2(OR10Z1):c.*3753AC[20]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292926	NM_001004478.2(OR10Z1):c.*3753AC[18]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292925	NM_003126.4(SPTA1):c.*133C>T	SPTA1, OR10Z1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
Select item 292932	NM_001004478.2(OR10Z1):c.*3753AC[14]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292931	NM_001004478.2(OR10Z1):c.*3753AC[15]	SPTA1, OR10Z1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292930	NM_001004478.2(OR10Z1):c.*3753AC[16]	OR10Z1, SPTA1	Microsatellite (3 prime UTR variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292933	NM_003126.4(SPTA1):c.97_98insATGTGT	OR10Z1, SPTA1	Insertion (3 prime UTR variant)	Pyropoikilocytosis, hereditary +2 more	GUncertain significance
Select item 292934	NM_003126.4(SPTA1):c.*68C>G	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Pyropoikilocytosis, hereditary +2 more	GConflicting classifications of pathogenicity
Select item 292935	NM_003126.4(SPTA1):c.*39G>A	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant)	Elliptocytosis 2 +2 more	GUncertain significance
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 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 875845	NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile)	OR10Z1, SPTA1 (V2410I)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +3 more	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 2284392	NM_003126.4(SPTA1):c.7201C>G (p.Arg2401Gly)	OR10Z1, SPTA1 (R2401G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 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 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 811737	NM_003126.4(SPTA1):c.7183T>C (p.Tyr2395His)	OR10Z1, SPTA1 (Y2395H)	Single nucleotide variant (missense variant)	not specified	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 2693041	NM_003126.4(SPTA1):c.7180C>T (p.Gln2394Ter)	OR10Z1, SPTA1 (Q2394*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2739646	NM_003126.4(SPTA1):c.7162T>C (p.Cys2388Arg)	OR10Z1, SPTA1 (C2388R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2632185	NM_003126.4(SPTA1):c.7139T>C (p.Leu2380Pro)	OR10Z1, SPTA1 (L2380P)	Single nucleotide variant (3 prime UTR variant +1 more)	SPTA1-related disorder	GUncertain significance
Select item 1705950	NM_003126.4(SPTA1):c.7135_7137delinsTATAAATGACA (p.Ala2379delinsTyrLysTer)	SPTA1, OR10Z1	Indel (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 3169486	NM_003126.4(SPTA1):c.7135G>A (p.Ala2379Thr)	OR10Z1, SPTA1 (A2379T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 1234162	NM_001004478.2(OR10Z1):c.*4340T>C	OR10Z1, SPTA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1227763	NM_003126.4(SPTA1):c.7134+250_7134+252dup	SPTA1	Duplication (intron variant)	not provided	GBenign
Select item 2433761	NM_003126.4(SPTA1):c.7134+2T>G	SPTA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 421401	NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter)	SPTA1 (Q2378*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 3169485	NM_003126.4(SPTA1):c.7127T>G (p.Met2376Arg)	SPTA1 (M2376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2436331	NM_003126.4(SPTA1):c.7119AGA[1] (p.Glu2374del)	SPTA1 (E2374del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3169484	NM_003126.4(SPTA1):c.7121A>C (p.Glu2374Ala)	SPTA1 (E2374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 292936	NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)	SPTA1 (K2368N)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 2690081	NM_003126.4(SPTA1):c.7094_7095inv (p.Ala2365Val)	SPTA1 (A2365V)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1330846	NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu)	SPTA1 (A2365E)	Indel (missense variant)	not provided	GUncertain significance
Select item 258958	NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=)	SPTA1	Single nucleotide variant (synonymous variant)	Pyropoikilocytosis, hereditary +4 more	GBenign
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 3021395	NM_003126.4(SPTA1):c.7089C>T (p.Ala2363=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 618386	NM_003126.4(SPTA1):c.7072G>A (p.Glu2358Lys)	SPTA1 (E2358K)	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 2485884	NM_003126.4(SPTA1):c.7069A>G (p.Ile2357Val)	SPTA1 (I2357V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 292937	NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)	SPTA1 (E2356D)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +3 more	GConflicting classifications of pathogenicity
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 2881656	NM_003126.4(SPTA1):c.7008G>A (p.Leu2336=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169483	NM_003126.4(SPTA1):c.6998A>G (p.Tyr2333Cys)	SPTA1 (Y2333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 292938	NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu)	SPTA1 (K2331E)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +4 more	GUncertain significance
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 2629753	NM_003126.4(SPTA1):c.6989G>A (p.Arg2330Lys)	SPTA1 (R2330K)	Single nucleotide variant (missense variant)	SPTA1-related disorder	GUncertain significance
Select item 2378646	NM_003126.4(SPTA1):c.6983C>T (p.Pro2328Leu)	SPTA1 (P2328L)	Single nucleotide variant (missense variant)	not specified	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 1928793	NM_003126.4(SPTA1):c.6940G>A (p.Glu2314Lys)	SPTA1 (E2314K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2409120	NM_003126.4(SPTA1):c.6925A>G (p.Met2309Val)	SPTA1 (M2309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 292939	NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe)	SPTA1 (C2299F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 292940	NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)	SPTA1 (R2297W)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +4 more	GConflicting classifications of pathogenicity
Select item 993964	NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer)	SPTA1	Deletion (nonsense)	not provided	GPathogenic
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 2808972	NM_003126.4(SPTA1):c.6860T>C (p.Leu2287Ser)	SPTA1 (L2287S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 292944	NM_003126.4(SPTA1):c.6843-8T>C	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 2436336	NM_003126.4(SPTA1):c.6842+5del	SPTA1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3169482	NM_003126.4(SPTA1):c.6817C>A (p.Leu2273Ile)	SPTA1 (L2273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1030633	NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs)	SPTA1 (E2271fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 258957	NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr)	SPTA1 (I2265T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 292945	NM_003126.4(SPTA1):c.6789-6_6789-5dup	SPTA1	Duplication (intron variant)	Elliptocytosis +2 more	GUncertain significance
Select item 292948	NM_003126.4(SPTA1):c.6789-19_6789-17dup	SPTA1	Duplication (intron variant)	Spherocytosis, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 292947	NM_003126.4(SPTA1):c.6789-19_6789-18dup	SPTA1	Duplication (intron variant)	Spherocytosis, Recessive +3 more	GBenign/Likely benign
Select item 292946	NM_003126.4(SPTA1):c.6789-19dup	SPTA1	Duplication (intron variant)	Elliptocytosis 2 +5 more	GBenign/Likely benign
Select item 292949	NM_003126.4(SPTA1):c.6789-8del	SPTA1	Deletion (intron variant)	Spherocytosis, Recessive +6 more	GBenign/Likely benign
Select item 3065826	NM_003126.4(SPTA1):c.6789-17_6789-16insTG	SPTA1	Insertion (intron variant)	Elliptocytosis 2	GUncertain significance
Select item 2793495	NM_003126.4(SPTA1):c.6789-20G>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247526	NM_003126.4(SPTA1):c.6789-314C>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 996360	NM_003126.4(SPTA1):c.6788+11C>T	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +1 more	GPathogenic
Select item 1705957	NM_003126.4(SPTA1):c.6788+1G>A	SPTA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 811896	NM_003126.4(SPTA1):c.6773A>G (p.Gln2258Arg)	SPTA1 (Q2258R)	Single nucleotide variant (missense variant)	not specified	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 2683194	NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter)	SPTA1 (L2250*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 993966	NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe)	SPTA1 (L2238F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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