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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 292936	NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)	SPTA1 (K2368N)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +5 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 258958	NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +4 more	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 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 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 993964	NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer)	SPTA1	Deletion (nonsense)	not provided	GPathogenic
Select item 292943	NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)	SPTA1 (D2284N)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 258957	NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr)	SPTA1 (I2265T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 292949	NM_003126.4(SPTA1):c.6789-8del	SPTA1	Deletion (intron variant)	Spherocytosis, Recessive +6 more	GBenign/Likely benign
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 993966	NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe)	SPTA1 (L2238F)	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 811312	NM_003126.4(SPTA1):c.6634C>T (p.Gln2212Ter)	SPTA1 (Q2212*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
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 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 258955	NM_003126.4(SPTA1):c.6549-12G>A	SPTA1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 993391	NM_003126.4(SPTA1):c.6549-22A>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2079306	NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)	SPTA1 (A2178V)	Single nucleotide variant (missense variant)	SPTA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 258954	NM_003126.4(SPTA1):c.6531-12C>T	SPTA1	Single nucleotide variant (intron variant)	Pyropoikilocytosis, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 292951	NM_003126.4(SPTA1):c.6530+15A>T	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +3 more	GBenign/Likely benign
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 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 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 292957	NM_003126.4(SPTA1):c.6121-11del	SPTA1	Deletion (intron variant)	Spherocytosis, Recessive +3 more	GBenign/Likely benign
Select item 993401	NM_003126.4(SPTA1):c.6120G>A (p.Lys2040=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 258952	NM_003126.4(SPTA1):c.6112C>T (p.Leu2038=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 258951	NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys)	SPTA1 (R2016C)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GBenign
Select item 994168	NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His)	SPTA1 (R2009H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 258950	NM_003126.4(SPTA1):c.5992G>C (p.Ala1998Pro)	SPTA1 (A1998P)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GBenign
Select item 258949	NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1330432	NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)	SPTA1 (T1972N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 292959	NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)	SPTA1 (D1971N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 876084	NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2921259	NM_003126.4(SPTA1):c.5834C>T (p.Ala1945Val)	SPTA1 (A1945V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330583	NM_003126.4(SPTA1):c.5834-13T>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 292962	NM_003126.4(SPTA1):c.5834-15G>A	SPTA1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2709748	NM_003126.4(SPTA1):c.5834-18A>G	SPTA1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 292965	NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 1330604	NM_003126.4(SPTA1):c.5620C>T (p.Arg1874Ter)	SPTA1 (R1874*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 258948	NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)	SPTA1 (L1858V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +4 more	GConflicting classifications of pathogenicity
Select item 258947	NM_003126.4(SPTA1):c.5507A>G (p.Asn1836Ser)	SPTA1 (N1836S)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GBenign
Select item 741540	NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1911132	NM_003126.4(SPTA1):c.5433-19G>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 292972	NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 994229	NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter)	SPTA1 (Q1796*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 292973	NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)	SPTA1 (R1793Q)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 1330500	NM_003126.4(SPTA1):c.5310+17A>G	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1330484	NM_003126.4(SPTA1):c.5303C>T (p.Ala1768Val)	SPTA1 (A1768V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258945	NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=)	SPTA1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 728992	NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2920984	NM_003126.4(SPTA1):c.5212_5213dup (p.Gln1739fs)	SPTA1 (Q1739fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 258944	NM_003126.4(SPTA1):c.5118C>T (p.His1706=)	SPTA1	Single nucleotide variant (synonymous variant)	Elliptocytosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 393152	NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His)	SPTA1 (R1694H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258943	NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln)	SPTA1 (K1693Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 2921221	NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe)	SPTA1 (L1674F)	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 1330619	NM_003126.4(SPTA1):c.4875+13G>A	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 292980	NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)	SPTA1	Single nucleotide variant (synonymous variant)	Pyropoikilocytosis, hereditary +3 more	GConflicting classifications of pathogenicity
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 258942	NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg)	SPTA1 (C1568R)	Single nucleotide variant (missense variant)	Elliptocytosis 2 +4 more	GBenign
Select item 292981	NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)	SPTA1 (L1565Q)	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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 292983	NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)	SPTA1 (T1522A)	Single nucleotide variant (missense variant)	SPTA1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 258940	NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)	SPTA1 (G1497E)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +4 more	GConflicting classifications of pathogenicity
Select item 258939	NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp)	SPTA1 (R1493W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 994181	NM_003126.4(SPTA1):c.4339-2A>C	SPTA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1331073	NM_003126.4(SPTA1):c.4339-126A>G	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 292986	NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 258935	NM_003126.4(SPTA1):c.4195-12G>A	SPTA1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 2428757	NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His)	SPTA1 (D1392H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428573	NM_003126.4(SPTA1):c.3997-5C>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258934	NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile)	SPTA1 (R1330I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 258933	NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=)	SPTA1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 993711	NM_003126.4(SPTA1):c.3909C>A (p.Asn1303Lys)	SPTA1 (N1303K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994200	NM_003126.4(SPTA1):c.3896+19C>T	SPTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2635480	NM_003126.4(SPTA1):c.3896G>A (p.Arg1299Lys)	SPTA1 (R1299K)	Single nucleotide variant (missense variant)	SPTA1-related condition +1 more	GUncertain significance
Select item 994268	NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg)	SPTA1 (L1267R)	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 2428578	NM_003126.4(SPTA1):c.3720C>T (p.Thr1240=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 258931	NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=)	SPTA1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 3 +4 more	GBenign/Likely benign
Select item 1330571	NM_003126.4(SPTA1):c.3570-11T>C	SPTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258930	NM_003126.4(SPTA1):c.3570-12C>T	SPTA1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 258929	NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala)	SPTA1 (S1163A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 292994	NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)	SPTA1 (R1133P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 811738	NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser)	SPTA1 (N1130S)	Single nucleotide variant (missense variant)	not provided	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 994036	NM_003126.4(SPTA1):c.3257del (p.Leu1086fs)	SPTA1 (L1086fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 618391	NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)	SPTA1 (R1077H)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 3 +3 more	GConflicting classifications of pathogenicity
Select item 292998	NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 293001	NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser)	SPTA1 (T1054S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 293002	NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu)	SPTA1 (P1050L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2428565	NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)	SPTA1 (R1045Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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