ClinVar for MedGen (Select 155705) - ClinVar

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Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367139	NM_006946.4(SPTBN2):c.6373G>C (p.Gly2125Arg)	SPTBN2 (G2125R +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 3337984	NM_006946.4(SPTBN2):c.1615G>A (p.Asp539Asn)	SPTBN2 (D539N +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 2996372	NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu)	SPTBN2 (S2318L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 2692310	NM_006946.4(SPTBN2):c.1472T>G (p.Leu491Arg)	SPTBN2 (L491R +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 2663769	NM_006946.4(SPTBN2):c.185C>T (p.Thr62Ile)	SPTBN2 (T62I +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 2585177	NM_006946.4(SPTBN2):c.571G>T (p.Ala191Ser)	SPTBN2 (A191S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 2580228	NM_006946.4(SPTBN2):c.1081G>A (p.Glu361Lys)	SPTBN2 (E361K +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 2500212	NM_006946.4(SPTBN2):c.5581del (p.Asp1861fs)	SPTBN2 (D1861fs +1 more)	Deletion (frameshift variant)	Spinocerebellar ataxia type 5	GPathogenic
Select item 2442234	NM_006946.4(SPTBN2):c.3777-3C>G	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1803013	NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)	SPTBN2 (R2347Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1802192	NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)	SPTBN2 (A2077V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +2 more	GConflicting classifications of pathogenicity
Select item 1710047	NM_006946.4(SPTBN2):c.478T>C (p.Phe160Leu)	SPTBN2 (F160L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1709271	NM_006946.4(SPTBN2):c.2191C>T (p.Arg731Trp)	SPTBN2 (R731W +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1709006	NM_006946.4(SPTBN2):c.7044del (p.Gly2348_Met2349insTer)	SPTBN2	Deletion (frameshift variant +1 more)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1687336	NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val)	SPTBN2 (A853V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 1676238	NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln)	SPTBN2 (K65Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GLikely pathogenic
Select item 1400209	NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His)	SPTBN2 (R739H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1372969	NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr)	SPTBN2 (C231Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1342596	NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly)	SPTBN2 (R1686G)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GUncertain significance
Select item 1333957	NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup)	SPTBN2	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 1333225	NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)	SPTBN2 (Q1992*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 5	GLikely pathogenic
Select item 1307918	NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln)	SPTBN2 (R615Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1298298	NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His)	SPTBN2 (N508H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1298296	NM_006946.4(SPTBN2):c.6169G>T (p.Ala2057Ser)	SPTBN2 (A2057S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1281930	NM_006946.4(SPTBN2):c.2816+23A>G	SPTBN2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1278200	NM_006946.4(SPTBN2):c.309+36T>C	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GBenign
Select item 1276711	NM_006946.4(SPTBN2):c.657-47G>A	SPTBN2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1256191	NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)	SPTBN2 (R2347W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1047922	NM_006946.4(SPTBN2):c.3867+3G>T	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1029118	NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)	SPTBN2 (T271I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GLikely pathogenic
Select item 1029117	NM_006946.4(SPTBN2):c.773-5T>C	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1029115	NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)	SPTBN2 (D1453V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GLikely pathogenic
Select item 1029114	NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln)	SPTBN2 (R671Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GUncertain significance
Select item 1027699	NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly)	SPTBN2 (R517G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1027423	NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His)	SPTBN2 (R1689H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 994477	NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)	SPTBN2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 5 +2 more	GUncertain significance
Select item 983471	NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His)	SPTBN2 (R999H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 982666	NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala)	SPTBN2 (V2368A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 931767	NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val)	SPTBN2 (A1079V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 931441	NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser)	SPTBN2 (P2366S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 930938	NM_006946.4(SPTBN2):c.901A>G (p.Met301Val)	SPTBN2 (M301V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 930717	NM_006946.4(SPTBN2):c.4986-5T>G	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 930560	NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val)	SPTBN2 (A1835V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 930559	NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)	SPTBN2 (R2179Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 930223	NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln)	SPTBN2 (E2230Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 928964	NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)	SPTBN2 (R437W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 915288	NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)	SPTBN2 (R658Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GConflicting classifications of pathogenicity
Select item 878989	NM_006946.4(SPTBN2):c.6502-9C>T	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GConflicting classifications of pathogenicity
Select item 878939	NM_006946.4(SPTBN2):c.6897-4A>G	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5 +1 more	GUncertain significance
Select item 877425	NM_006946.4(SPTBN2):c.6035-12C>T	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GConflicting classifications of pathogenicity
Select item 877376	NM_006946.4(SPTBN2):c.6723-14C>T	SPTBN2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 807500	NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)	SPTBN2 (R351P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GLikely pathogenic
Select item 805333	NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His)	SPTBN2 (R387H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 804247	NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)	SPTBN2 (L426del)	Deletion (inframe_deletion)	Spinocerebellar ataxia type 5	GLikely pathogenic
Select item 638445	NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His)	SPTBN2 (Y2247H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 619974	NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)	SPTBN2 (R2370H)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GConflicting classifications of pathogenicity
Select item 585098	NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His)	SPTBN2 (R1310H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 585097	NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys)	SPTBN2 (R2037C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 546676	NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	SPTBN2 (R437Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GPathogenic/Likely pathogenic
Select item 518243	NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=)	SPTBN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 502388	NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)	SPTBN2 (A486T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 502387	NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)	SPTBN2 (A1267V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +2 more	GConflicting classifications of pathogenicity
Select item 488611	NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)	SPTBN2 (L626P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 487361	NM_006946.4(SPTBN2):c.2473= (p.Ser825=)	SPTBN2	Single nucleotide variant (no sequence alteration)	not provided +1 more	GBenign
Select item 487360	NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=)	SPTBN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 450038	NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)	SPTBN2 (M436T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 448526	NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)	SPTBN2 (S31L)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 448497	NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)	SPTBN2 (E1241G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 448482	NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	SPTBN2	Deletion (inframe_deletion)	Spinocerebellar ataxia type 5 +1 more	GPathogenic
Select item 305605	NM_006946.4(SPTBN2):c.-22-10C>A	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GConflicting classifications of pathogenicity
Select item 305599	NM_006946.4(SPTBN2):c.285C>T (p.Leu95=)	SPTBN2	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign/Likely benign
Select item 305596	NM_006946.4(SPTBN2):c.657-7C>G	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5 +1 more	GUncertain significance
Select item 305595	NM_006946.4(SPTBN2):c.885+5T>C	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GBenign/Likely benign
Select item 305588	NM_006946.4(SPTBN2):c.1351-7G>A	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +3 more	GBenign/Likely benign
Select item 305587	NM_006946.4(SPTBN2):c.1351-7G>T	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GBenign/Likely benign
Select item 305584	NM_006946.4(SPTBN2):c.1654-13G>A	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GConflicting classifications of pathogenicity
Select item 305572	NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys)	SPTBN2 (E895K)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GUncertain significance
Select item 305568	NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)	SPTBN2 (R1039Q)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +3 more	GConflicting classifications of pathogenicity
Select item 305557	NM_006946.4(SPTBN2):c.4279-8G>A	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GBenign/Likely benign
Select item 305552	NM_006946.4(SPTBN2):c.4985+11C>T	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GBenign/Likely benign
Select item 305551	NM_006946.4(SPTBN2):c.4985+12G>A	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GConflicting classifications of pathogenicity
Select item 305541	NM_006946.4(SPTBN2):c.5950-9C>T	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GConflicting classifications of pathogenicity
Select item 305540	NM_006946.4(SPTBN2):c.5950-8G>A	SPTBN2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 305536	NM_006946.4(SPTBN2):c.6374+15G>A	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5 +1 more	GUncertain significance
Select item 305532	NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)	SPTBN2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 5 +3 more	GBenign/Likely benign
Select item 305530	NM_006946.4(SPTBN2):c.6723-11G>A	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5 +1 more	GUncertain significance
Select item 305525	NM_006946.4(SPTBN2):c.6896+11G>A	SPTBN2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 305523	NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=)	SPTBN2	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign/Likely benign
Select item 285565	NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)	SPTBN2 (S825G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 226117	NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)	SPTBN2 (I157T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GLikely pathogenic
Select item 195271	NM_006946.4(SPTBN2):c.157+5G>A	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GConflicting classifications of pathogenicity
Select item 130372	NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 130371	NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)	SPTBN2 (V1034A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 64368	NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	SPTBN2 (R480W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 5275	NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)	SPTBN2 (L253P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 5274	NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)	SPTBN2	Deletion (inframe_indel)	Spinocerebellar ataxia type 5	GPathogenic

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Items: 98