"Ambry Genetics"[submitter] AND "SPTBN2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2558229	NM_006946.4(SPTBN2):c.7151G>A (p.Ser2384Asn)	SPTBN2 (S2391N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 619974	NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)	SPTBN2 (R2370H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1413250	NM_006946.4(SPTBN2):c.6962G>A (p.Arg2321Gln)	SPTBN2 (R2321Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2412580	NM_006946.4(SPTBN2):c.6950G>C (p.Ser2317Thr)	SPTBN2 (S2324T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 436851	NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His)	SPTBN2 (R2252H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 305528	NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)	SPTBN2 (R2251W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 448523	NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met)	SPTBN2 (V2246M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1806935	NM_006946.4(SPTBN2):c.6680G>A (p.Arg2227His)	SPTBN2 (R2227H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 391723	NM_006946.4(SPTBN2):c.6679C>T (p.Arg2227Cys)	SPTBN2 (R2227C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805372	NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu)	SPTBN2 (P2191L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 994476	NM_006946.4(SPTBN2):c.6562G>A (p.Gly2188Ser)	SPTBN2 (G2188S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2230917	NM_006946.4(SPTBN2):c.6553C>T (p.Arg2185Trp)	SPTBN2 (R2185W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 424271	NM_006946.4(SPTBN2):c.6547C>G (p.Gln2183Glu)	SPTBN2 (Q2183E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2326221	NM_006946.4(SPTBN2):c.6543G>C (p.Glu2181Asp)	SPTBN2 (E2181D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2398528	NM_006946.4(SPTBN2):c.6493G>A (p.Glu2165Lys)	SPTBN2 (E2172K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2477081	NM_006946.4(SPTBN2):c.6490C>T (p.Pro2164Ser)	SPTBN2 (P2164S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448520	NM_006946.4(SPTBN2):c.6470G>A (p.Arg2157Lys)	SPTBN2 (R2157K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2266654	NM_006946.4(SPTBN2):c.6331G>A (p.Asp2111Asn)	SPTBN2 (D2118N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1147598	NM_006946.4(SPTBN2):c.6296C>A (p.Pro2099His)	SPTBN2 (P2099H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2409694	NM_006946.4(SPTBN2):c.6274G>A (p.Glu2092Lys)	SPTBN2 (E2092K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 305538	NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)	SPTBN2 (R2081Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1327863	NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu)	SPTBN2 (D2021E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1576944	NM_006946.4(SPTBN2):c.5984G>A (p.Arg1995His)	SPTBN2 (R1995H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1662298	NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp)	SPTBN2 (R1994W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2556196	NM_006946.4(SPTBN2):c.5953T>G (p.Ser1985Ala)	SPTBN2 (S1985A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1397268	NM_006946.4(SPTBN2):c.5944G>A (p.Glu1982Lys)	SPTBN2 (E1982K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1589623	NM_006946.4(SPTBN2):c.5696G>A (p.Arg1899His)	SPTBN2 (R1899H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 305545	NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr)	SPTBN2 (A1898T)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 2460638	NM_006946.4(SPTBN2):c.5669C>G (p.Ala1890Gly)	SPTBN2 (A1890G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289091	NM_006946.4(SPTBN2):c.5645T>C (p.Met1882Thr)	SPTBN2 (M1889T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2205360	NM_006946.4(SPTBN2):c.5635G>A (p.Gly1879Ser)	SPTBN2 (G1879S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 498169	NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)	SPTBN2 (R1865W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1960999	NM_006946.4(SPTBN2):c.5566-4G>A	SPTBN2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1566412	NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg)	SPTBN2 (L1832R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 994472	NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu)	SPTBN2 (P1825L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1333957	NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup)	SPTBN2	Microsatellite (inframe_insertion)	Spinocerebellar ataxia type 5 +2 more	GUncertain significance
Select item 2260156	NM_006946.4(SPTBN2):c.5425G>T (p.Gly1809Trp)	SPTBN2 (G1809W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335075	NM_006946.4(SPTBN2):c.5413C>T (p.Arg1805Cys)	SPTBN2 (R1805C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1049193	NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu)	SPTBN2 (Q1795E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2309578	NM_006946.4(SPTBN2):c.5297A>T (p.His1766Leu)	SPTBN2 (H1773L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483325	NM_006946.4(SPTBN2):c.5210G>A (p.Arg1737Gln)	SPTBN2 (R1737Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2529763	NM_006946.4(SPTBN2):c.4912G>A (p.Ala1638Thr)	SPTBN2 (A1645T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271929	NM_006946.4(SPTBN2):c.4885A>C (p.Lys1629Gln)	SPTBN2 (K1636Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220649	NM_006946.4(SPTBN2):c.4529T>C (p.Met1510Thr)	SPTBN2 (M1510T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256177	NM_006946.4(SPTBN2):c.4465G>A (p.Glu1489Lys)	SPTBN2 (E1489K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 448503	NM_006946.4(SPTBN2):c.4418T>C (p.Leu1473Ser)	SPTBN2 (L1473S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 805353	NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp)	SPTBN2 (E1458D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2217987	NM_006946.4(SPTBN2):c.4086C>G (p.His1362Gln)	SPTBN2 (H1362Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2279226	NM_006946.4(SPTBN2):c.3967A>G (p.Met1323Val)	SPTBN2 (M1323V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1930947	NM_006946.4(SPTBN2):c.3854A>G (p.Gln1285Arg)	SPTBN2 (Q1285R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 872441	NM_006946.4(SPTBN2):c.3830A>G (p.Asn1277Ser)	SPTBN2 (N1277S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2525783	NM_006946.4(SPTBN2):c.3828C>G (p.Asp1276Glu)	SPTBN2 (D1276E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546673	NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp)	SPTBN2 (R1250W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 586477	NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser)	SPTBN2 (N1224S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2322529	NM_006946.4(SPTBN2):c.3602C>T (p.Pro1201Leu)	SPTBN2 (P1208L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272138	NM_006946.4(SPTBN2):c.3569G>C (p.Ser1190Thr)	SPTBN2 (S1197T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272137	NM_006946.4(SPTBN2):c.3568A>G (p.Ser1190Gly)	SPTBN2 (S1197G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806920	NM_006946.4(SPTBN2):c.3494A>G (p.Gln1165Arg)	SPTBN2 (Q1165R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2181945	NM_006946.4(SPTBN2):c.3398G>A (p.Arg1133Gln)	SPTBN2 (R1140Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 725810	NM_006946.4(SPTBN2):c.3347G>A (p.Arg1116Gln)	SPTBN2 (R1116Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305567	NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)	SPTBN2 (R1065Q)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 2517823	NM_006946.4(SPTBN2):c.3163C>T (p.Arg1055Trp)	SPTBN2 (R1055W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229496	NM_006946.4(SPTBN2):c.3115C>T (p.Arg1039Trp)	SPTBN2 (R1046W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500425	NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr)	SPTBN2 (A1038T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2219994	NM_006946.4(SPTBN2):c.3007G>A (p.Gly1003Ser)	SPTBN2 (G1010S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448491	NM_006946.4(SPTBN2):c.2944G>A (p.Glu982Lys)	SPTBN2 (E982K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2492268	NM_006946.4(SPTBN2):c.2892C>G (p.His964Gln)	SPTBN2 (H964Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398796	NM_006946.4(SPTBN2):c.2831G>A (p.Arg944Gln)	SPTBN2 (R944Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2466910	NM_006946.4(SPTBN2):c.2771C>T (p.Pro924Leu)	SPTBN2 (P931L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 448488	NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln)	SPTBN2 (P924Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 995240	NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val)	SPTBN2 (A910V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2287466	NM_006946.4(SPTBN2):c.2668G>A (p.Val890Met)	SPTBN2 (V897M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448487	NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys)	SPTBN2 (R883C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2607971	NM_006946.4(SPTBN2):c.2519G>A (p.Arg840Gln)	SPTBN2 (R847Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397453	NM_006946.4(SPTBN2):c.2504A>G (p.Glu835Gly)	SPTBN2 (E835G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312655	NM_006946.4(SPTBN2):c.2503_2504delinsAG (p.Glu835Arg)	SPTBN2 (E835R +1 more)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 2228656	NM_006946.4(SPTBN2):c.2472G>C (p.Gln824His)	SPTBN2 (Q831H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256174	NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys)	SPTBN2 (R819C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2484442	NM_006946.4(SPTBN2):c.2297C>T (p.Ala766Val)	SPTBN2 (A773V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258160	NM_006946.4(SPTBN2):c.2250_2252del (p.Tyr750_Gln751delinsTer)	SPTBN2	Deletion (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2476854	NM_006946.4(SPTBN2):c.2215C>T (p.Arg739Cys)	SPTBN2 (R746C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675462	NM_006946.4(SPTBN2):c.2209G>A (p.Glu737Lys)	SPTBN2 (E737K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 305576	NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His)	SPTBN2 (R721H)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia +3 more	GUncertain significance
Select item 424113	NM_006946.4(SPTBN2):c.2161C>T (p.Arg721Cys)	SPTBN2 (R721C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2545541	NM_006946.4(SPTBN2):c.2117A>G (p.Gln706Arg)	SPTBN2 (Q706R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699891	NM_006946.4(SPTBN2):c.1934G>A (p.Arg645His)	SPTBN2 (R645H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 520572	NM_006946.4(SPTBN2):c.1896_1919dup (p.Ala635_Arg642dup)	SPTBN2	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 208740	NM_006946.4(SPTBN2):c.1915G>T (p.Glu639Ter)	SPTBN2 (E639*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1384886	NM_006946.4(SPTBN2):c.1753G>A (p.Glu585Lys)	SPTBN2 (E585K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1349343	NM_006946.4(SPTBN2):c.1676T>C (p.Leu559Pro)	SPTBN2 (L559P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1478700	NM_006946.4(SPTBN2):c.1654-5G>A	SPTBN2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2369117	NM_006946.4(SPTBN2):c.1549C>T (p.Arg517Trp)	SPTBN2 (R524W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554774	NM_006946.4(SPTBN2):c.1531C>T (p.Arg511Trp)	SPTBN2 (R511W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332576	NM_006946.4(SPTBN2):c.1501C>G (p.Arg501Gly)	SPTBN2 (R508G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259082	NM_006946.4(SPTBN2):c.1477G>A (p.Ala493Thr)	SPTBN2 (A493T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448481	NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp)	SPTBN2 (A486D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 502388	NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)	SPTBN2 (A486T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +3 more	GConflicting classifications of pathogenicity
Select item 2324920	NM_006946.4(SPTBN2):c.1282G>A (p.Ala428Thr)	SPTBN2 (A435T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1914153	NM_006946.4(SPTBN2):c.1202G>A (p.Arg401Gln)	SPTBN2 (R408Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1412233	NM_006946.4(SPTBN2):c.1201C>T (p.Arg401Trp)	SPTBN2 (R401W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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