ClinVar for MedGen (Select 1636182) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391810	NM_006946.4(SPTBN2):c.3436C>T (p.Arg1146Ter)	SPTBN2 (R1146* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 14	GPathogenic
Select item 3338468	GRCh37/hg19 11q13.2(chr11:66472691-66475714)x1	SPTBN2	Copy number loss	Autosomal recessive spinocerebellar ataxia 14	GLikely pathogenic
Select item 3237165	NM_006946.4(SPTBN2):c.6304G>T (p.Glu2102Ter)	SPTBN2 (E2102* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 14	GPathogenic
Select item 2585599	NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)	SPTBN2 (A1038T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GUncertain significance
Select item 2585541	NM_006946.4(SPTBN2):c.254T>C (p.Leu85Pro)	SPTBN2 (L85P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GUncertain significance
Select item 2585269	NM_006946.4(SPTBN2):c.3479T>C (p.Met1160Thr)	SPTBN2 (M1167T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GUncertain significance
Select item 2585226	NM_002739.5(PRKCG):c.1451A>T (p.Asp484Val)	PRKCG (D484V)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GUncertain significance
Select item 2584949	NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)	SPTBN2 (R1159* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 14	GLikely pathogenic
Select item 2412721	NM_006946.4(SPTBN2):c.2330dup (p.His777fs)	SPTBN2 (H777fs)	Duplication (frameshift variant)	Autosomal recessive spinocerebellar ataxia 14	GLikely pathogenic
Select item 2192735	NM_006946.4(SPTBN2):c.1154C>T (p.Thr385Met)	SPTBN2 (T385M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1802192	NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)	SPTBN2 (A2077V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +3 more	GConflicting classifications of pathogenicity
Select item 1709393	NM_006946.4(SPTBN2):c.584A>G (p.Asn195Ser)	SPTBN2 (N195S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GUncertain significance
Select item 1687362	NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro)	SPTBN2 (L457P)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GUncertain significance
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 1329497	NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val)	SPTBN2 (A632V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1285500	NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr)	SPTBN2 (A1871T)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	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 1048078	NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys)	SPTBN2 (R414C)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GPathogenic
Select item 1034341	NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val)	SPTBN2 (D1499V)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GConflicting classifications of pathogenicity
Select item 1029116	NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)	SPTBN2 (V2268M)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GConflicting classifications of pathogenicity
Select item 1027425	NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp)	SPTBN2 (R615W)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14	GLikely pathogenic
Select item 1027424	NM_006946.4(SPTBN2):c.157+1G>A	SPTBN2	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 14	GPathogenic
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 878989	NM_006946.4(SPTBN2):c.6502-9C>T	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 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 806696	NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs)	SPTBN2 (E1997fs)	Microsatellite (frameshift variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GPathogenic/Likely pathogenic
Select item 619974	NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)	SPTBN2 (R2370H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 586486	NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu)	SPTBN2 (A1980E)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GUncertain significance
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 502387	NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)	SPTBN2 (A1267V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 448526	NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)	SPTBN2 (S31L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 448497	NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)	SPTBN2 (E1241G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +4 more	GConflicting classifications of pathogenicity
Select item 436855	NM_006946.4(SPTBN2):c.1653+13C>T	SPTBN2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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)	Spinocerebellar ataxia type 5 +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 305581	NM_006946.4(SPTBN2):c.1807+13C>T	SPTBN2	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GBenign/Likely benign
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 305557	NM_006946.4(SPTBN2):c.4279-8G>A	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5 +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)	Spinocerebellar ataxia type 5 +3 more	GBenign/Likely benign
Select item 305538	NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)	SPTBN2 (R2081Q)	Single nucleotide variant (missense variant)	not provided +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 285565	NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)	SPTBN2 (S825G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 195271	NM_006946.4(SPTBN2):c.157+5G>A	SPTBN2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 64369	NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs)	SPTBN2 (T955fs)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 14	GPathogenic
Select item 64367	NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter)	SPTBN2 (C627*)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 14	GPathogenic

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Items: 63