SPTA1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +4 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)	not provided +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)	Hereditary spherocytosis type 3 +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)	not specified +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)	Elliptocytosis 2 +4 more	GUncertain significance
Select item 292940	NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)	SPTA1 (R2297W)	Single nucleotide variant (missense variant)	not specified +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 +1 more	GConflicting classifications of pathogenicity
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)	Elliptocytosis 2 +4 more	GUncertain significance
Select item 292943	NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)	SPTA1 (D2284N)	Single nucleotide variant (missense variant)	not provided +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 +3 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)	Elliptocytosis 2 +1 more	GPathogenic
Select item 258957	NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr)	SPTA1 (I2265T)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 292947	NM_003126.4(SPTA1):c.6789-19_6789-18dup	SPTA1	Duplication (intron variant)	not provided +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)	Elliptocytosis 2 +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 provided +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
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 2543691	NM_003126.4(SPTA1):c.6701G>A (p.Ser2234Asn)	SPTA1 (S2234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1030632	NM_003126.4(SPTA1):c.6697T>C (p.Tyr2233His)	SPTA1 (Y2233H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3	GUncertain significance
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 258956	NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)	SPTA1 (E2224D)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +2 more	GBenign/Likely benign
Select item 3256474	NM_003126.4(SPTA1):c.6658G>C (p.Gly2220Arg)	SPTA1 (G2220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516169	NM_003126.4(SPTA1):c.6656T>C (p.Leu2219Pro)	SPTA1 (L2219P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811312	NM_003126.4(SPTA1):c.6634C>T (p.Gln2212Ter)	SPTA1 (Q2212*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2887124	NM_003126.4(SPTA1):c.6632G>A (p.Arg2211His)	SPTA1 (R2211H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 618387	NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)	SPTA1 (R2211C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 3169481	NM_003126.4(SPTA1):c.6609G>T (p.Gln2203His)	SPTA1 (Q2203H)	Single nucleotide variant (missense variant)	not specified	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 2436327	NM_003126.4(SPTA1):c.6600+5G>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1305429	NM_003126.4(SPTA1):c.6600+5G>A	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 544819	NM_003126.4(SPTA1):c.6600+5G>T	SPTA1	Single nucleotide variant (intron variant)	Familial hemolytic anemia	GLikely pathogenic
Select item 2690096	NM_003126.4(SPTA1):c.6600+4del	SPTA1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1012748	NM_003126.4(SPTA1):c.6594A>G (p.Ala2198=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709162	NM_003126.4(SPTA1):c.6592G>A (p.Ala2198Thr)	SPTA1 (A2198T)	Single nucleotide variant (missense variant)	Elliptocytosis 2	GUncertain significance
Select item 235335	NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu)	SPTA1 (K2187E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2800582	NM_003126.4(SPTA1):c.6557T>C (p.Leu2186Pro)	SPTA1 (L2186P)	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)	Hereditary spherocytosis type 3 +2 more	GUncertain significance
Select item 258955	NM_003126.4(SPTA1):c.6549-12G>A	SPTA1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 2571727	NM_003126.4(SPTA1):c.6549-13G>A	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2973873	NM_003126.4(SPTA1):c.6549-14C>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 993391	NM_003126.4(SPTA1):c.6549-22A>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272537	NM_003126.4(SPTA1):c.6548+57G>A	SPTA1	Single nucleotide variant (intron variant)	not provided	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 3022618	NM_003126.4(SPTA1):c.6548+19C>A	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2249359	NM_003126.4(SPTA1):c.6541C>A (p.Leu2181Met)	SPTA1 (L2181M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2079306	NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)	SPTA1 (A2178V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 258954	NM_003126.4(SPTA1):c.6531-12C>T	SPTA1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1230703	NM_003126.4(SPTA1):c.6531-300C>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289052	NM_003126.4(SPTA1):c.6531-317G>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236088	NM_003126.4(SPTA1):c.6530+96G>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 292951	NM_003126.4(SPTA1):c.6530+15A>T	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 2632390	NM_003126.4(SPTA1):c.6530+1G>T	SPTA1	Single nucleotide variant (splice donor variant)	SPTA1-related disorder	GLikely pathogenic
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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2222798	NM_003126.4(SPTA1):c.6422G>A (p.Arg2141Gln)	SPTA1 (R2141Q)	Single nucleotide variant (missense variant)	not provided +1 more	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 444183	NM_003126.4(SPTA1):c.6421C>A (p.Arg2141=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1163165	NM_003126.4(SPTA1):c.6418-23T>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1258118	NM_003126.4(SPTA1):c.6418-312G>A	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2966100	NM_003126.4(SPTA1):c.6417+14C>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988524	NM_003126.4(SPTA1):c.6417+5C>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 801564	NM_003126.4(SPTA1):c.6417G>C (p.Glu2139Asp)	SPTA1 (E2139D)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary	GLikely pathogenic

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