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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2473820	NM_001355436.2(SPTB):c.6565C>T (p.His2189Tyr)	SPTB (H2189Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271992	NM_001355436.2(SPTB):c.6559C>T (p.Arg2187Cys)	SPTB (R2187C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169523	NM_001355436.2(SPTB):c.6542T>G (p.Met2181Arg)	SPTB (M2181R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676979	NM_001355436.2(SPTB):c.6536_6537del (p.Val2179fs)	SPTB (V2179fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 2560857	NM_001355436.2(SPTB):c.6518G>C (p.Arg2173Pro)	SPTB (R2173P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2462760	NM_001355436.2(SPTB):c.6518G>A (p.Arg2173Gln)	SPTB (R2173Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436452	NM_001355436.2(SPTB):c.6509C>T (p.Pro2170Leu)	SPTB (P2170L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436448	NM_001355436.2(SPTB):c.6503C>T (p.Thr2168Met)	SPTB (T2168M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995612	NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr)	SPTB (A2167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3058596	NM_001355436.2(SPTB):c.6498C>T (p.Pro2166=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 1694100	NM_001355436.2(SPTB):c.6496C>G (p.Pro2166Ala)	SPTB (P2166A)	Single nucleotide variant (missense variant)	SPTB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 546743	NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys)	SPTB (E2162K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 994185	NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 257135	NM_001355436.2(SPTB):c.6483C>A (p.Ser2161Arg)	SPTB (S2161R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2436445	NM_001355436.2(SPTB):c.6473C>A (p.Thr2158Lys)	SPTB (T2158K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374267	NM_001355436.2(SPTB):c.6450G>T (p.Glu2150Asp)	SPTB (E2150D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169522	NM_001355436.2(SPTB):c.6440C>T (p.Pro2147Leu)	SPTB (P2147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694101	NM_001355436.2(SPTB):c.6396_6398dup (p.Gly2133_Gln2134insGly)	SPTB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 995697	NM_001355436.2(SPTB):c.6399T>C (p.Gly2133=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2921121	NM_001355436.2(SPTB):c.6396G>C (p.Pro2132=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037775	NM_001355436.2(SPTB):c.6393G>A (p.Pro2131=)	SPTB	Single nucleotide variant (synonymous variant)	SPTB-related disorder	GLikely benign
Select item 1163364	NM_001355436.2(SPTB):c.6392C>T (p.Pro2131Leu)	SPTB (P2131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3169521	NM_001355436.2(SPTB):c.6391C>G (p.Pro2131Ala)	SPTB (P2131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920990	NM_001355436.2(SPTB):c.6379C>A (p.Gln2127Lys)	SPTB (Q2127K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268489	NM_001355436.2(SPTB):c.6375C>A (p.Asn2125Lys)	SPTB (N2125K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628625	NM_001355436.2(SPTB):c.6369del (p.Gln2124fs)	SPTB (Q2124fs)	Deletion (frameshift variant)	SPTB-related disorder	GLikely pathogenic
Select item 807127	NM_001355436.2(SPTB):c.6369T>G (p.Pro2123=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330890	NM_001355436.2(SPTB):c.6361A>G (p.Thr2121Ala)	SPTB (T2121A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 807128	NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del)	SPTB (E2119del)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 2921054	NM_001355436.2(SPTB):c.6346-4G>C	SPTB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1330802	NM_001355436.2(SPTB):c.6346-13dup	SPTB	Duplication (intron variant)	SPTB-related disorder +1 more	GBenign/Likely benign
Select item 313694	NM_001355436.2(SPTB):c.6345+321A>G	SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	Spherocytosis, Dominant +1 more	GLikely benign
Select item 313695	NM_001355436.2(SPTB):c.6345+317G>A	SPTB	Single nucleotide variant (intron variant +1 more)	Spherocytosis, Dominant +1 more	GUncertain significance
Select item 313696	NM_001355436.2(SPTB):c.6345+251G>A	SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	Elliptocytosis +1 more	GUncertain significance
Select item 313697	NM_001355436.2(SPTB):c.6345+203C>T	SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	Elliptocytosis +1 more	GUncertain significance
Select item 313698	NM_001355436.2(SPTB):c.6345+162G>C	SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	Spherocytosis, Dominant +1 more	GLikely benign
Select item 1330975	NM_001355436.2(SPTB):c.6345+19T>A	SPTB (L2122M)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 313699	NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +2 more	GConflicting classifications of pathogenicity
Select item 811971	NM_001355436.2(SPTB):c.6313T>G (p.Ser2105Ala)	SPTB (S2105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 544818	NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr)	SPTB (P2091T)	Single nucleotide variant (missense variant)	Familial hemolytic anemia	GLikely benign
Select item 313700	NM_001355436.2(SPTB):c.6270-8_6270-6dup	SPTB	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257134	NM_001355436.2(SPTB):c.6269+13C>T	SPTB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 313701	NM_001355436.2(SPTB):c.6269+7G>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +1 more	GUncertain significance
Select item 2690112	NM_001355436.2(SPTB):c.6269+6T>A	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436441	NM_001355436.2(SPTB):c.6269+6T>C	SPTB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 12832	NM_001355436.2(SPTB):c.6269+3G>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis 3	GPathogenic
Select item 2744831	NM_001355436.2(SPTB):c.6242T>C (p.Ile2081Thr)	SPTB (I2081T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 313702	NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His)	SPTB (R2079H)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +2 more	GUncertain significance
Select item 2512069	NM_001355436.2(SPTB):c.6235C>T (p.Arg2079Cys)	SPTB (R2079C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325130	NM_001355436.2(SPTB):c.6224A>G (p.Glu2075Gly)	SPTB (E2075G)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1687184	NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln)	SPTB (E2075Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1330669	NM_001355436.2(SPTB):c.6220-16C>A	SPTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523132	NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs)	SPTB (A2066fs)	Duplication (frameshift variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 994409	NM_001355436.2(SPTB):c.6193T>G (p.Phe2065Val)	SPTB (F2065V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12840	NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro)	SPTB (R2064P)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GPathogenic
Select item 2690735	NM_001355436.2(SPTB):c.6188_6189del (p.Glu2063fs)	SPTB (E2063fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1028697	NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly)	SPTB (W2061G)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GUncertain significance
Select item 12834	NM_001355436.2(SPTB):c.6177del (p.Ser2060fs)	SPTB (S2060fs)	Deletion (frameshift variant)	Elliptocytosis 3	GPathogenic
Select item 313703	NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +2 more	GConflicting classifications of pathogenicity
Select item 996355	NM_001355436.2(SPTB):c.6173C>T (p.Thr2058Met)	SPTB (T2058M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683448	NM_001355436.2(SPTB):c.6168dup (p.Ser2057fs)	SPTB (S2057fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 12831	NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro)	SPTB (A2053P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2287023	NM_001355436.2(SPTB):c.6142A>C (p.Ile2048Leu)	SPTB (I2048L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12833	NM_001355436.2(SPTB):c.6135_6136dup (p.Lys2046fs)	SPTB (K2046fs)	Microsatellite (frameshift variant)	Elliptocytosis 3	GPathogenic
Select item 257133	NM_001355436.2(SPTB):c.6132G>A (p.Val2044=)	SPTB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1330647	NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs)	SPTB (T2040fs)	Microsatellite (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 870421	NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile)	SPTB (T2040I)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3237209	NM_001355436.2(SPTB):c.6109_6112delinsCTTT (p.Phe2037_Gly2038delinsLeuTer)	SPTB	Indel (nonsense)	not provided	GLikely pathogenic
Select item 522602	NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro)	SPTB (L2032P)	Single nucleotide variant (missense variant)	Hereditary spherocytosis	GPathogenic
Select item 12839	NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)	SPTB (L2025R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433899	NM_001355436.2(SPTB):c.6071G>A (p.Trp2024Ter)	SPTB (W2024*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1163365	NM_001355436.2(SPTB):c.6070T>A (p.Trp2024Arg)	SPTB (W2024R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1163366	NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)	SPTB (A2023V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +2 more	GConflicting classifications of pathogenicity
Select item 811398	NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro)	SPTB (A2021P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676972	NM_001355436.2(SPTB):c.6059_6060del (p.Val2020fs)	SPTB (V2020fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 2690114	NM_001355436.2(SPTB):c.6056C>T (p.Ser2019Phe)	SPTB (S2019F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12837	NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)	SPTB (S2019P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1694102	NM_001355436.2(SPTB):c.6053C>A (p.Ala2018Asp)	SPTB (A2018D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12836	NM_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly)	SPTB (A2018G)	Single nucleotide variant (missense variant)	Pyropoikilocytosis, hereditary +1 more	GPathogenic
Select item 1330514	NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 869462	NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys)	SPTB (F2014C)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GUncertain significance
Select item 2041790	NM_001355436.2(SPTB):c.6037C>T (p.Gln2013Ter)	SPTB (Q2013*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1163367	NM_001355436.2(SPTB):c.6025C>T (p.Leu2009=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 257132	NM_001355436.2(SPTB):c.6023-8C>T	SPTB	Single nucleotide variant (intron variant)	Elliptocytosis +3 more	GBenign/Likely benign
Select item 2983775	NM_001355436.2(SPTB):c.6017G>C (p.Arg2006Pro)	SPTB (R2006P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2335647	NM_001355436.2(SPTB):c.6017G>A (p.Arg2006His)	SPTB (R2006H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163368	NM_001355436.2(SPTB):c.6017G>T (p.Arg2006Leu)	SPTB (R2006L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3169520	NM_001355436.2(SPTB):c.6016C>T (p.Arg2006Cys)	SPTB (R2006C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644317	NM_001355436.2(SPTB):c.6015C>G (p.Leu2005=)	SPTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690147	NM_001355436.2(SPTB):c.6010C>G (p.Arg2004Gly)	SPTB (R2004G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405168	NM_001355436.2(SPTB):c.6010C>T (p.Arg2004Trp)	SPTB (R2004W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381044	NM_001355436.2(SPTB):c.6002G>A (p.Arg2001His)	SPTB (R2001H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399169	NM_001355436.2(SPTB):c.6001C>T (p.Arg2001Cys)	SPTB (R2001C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705960	NM_001355436.2(SPTB):c.5994G>A (p.Trp1998Ter)	SPTB (W1998*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2628845	NM_001355436.2(SPTB):c.5986G>A (p.Glu1996Lys)	SPTB (E1996K)	Single nucleotide variant (missense variant)	SPTB-related disorder	GUncertain significance
Select item 2690748	NM_001355436.2(SPTB):c.5975_5976del (p.Lys1992fs)	SPTB (K1992fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2572616	NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)	SPTB (Q1985*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2683452	NM_001355436.2(SPTB):c.5949del (p.Lys1983fs)	SPTB (K1983fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1636632	NM_001355436.2(SPTB):c.5944G>A (p.Glu1982Lys)	SPTB (E1982K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 257131	NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)	SPTB	Single nucleotide variant (synonymous variant)	Elliptocytosis +3 more	GConflicting classifications of pathogenicity

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