ClinVar for MedGen (Select 854733) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256788	NM_198994.3(TGM6):c.110C>A (p.Ser37Ter)	TGM6 (S37*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 35	GLikely pathogenic
Select item 3256544	NM_198994.3(TGM6):c.850+1G>A	TGM6	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 35	GLikely pathogenic
Select item 3235020	NM_198994.3(TGM6):c.1132dup (p.Arg378fs)	TGM6 (R378fs)	Duplication (frameshift variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 3067844	NM_198994.3(TGM6):c.1833+1G>T	TGM6	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 2665057	NM_198994.3(TGM6):c.1179G>A (p.Ala393=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35 +1 more	GUncertain significance
Select item 2437074	NM_198994.3(TGM6):c.491T>A (p.Ile164Asn)	TGM6 (I164N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 2437073	NM_198994.3(TGM6):c.897del (p.Ser300fs)	TGM6 (S300fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2195303	NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)	TGM6 (G180R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2051990	NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)	TGM6 (G244S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1703488	NM_198994.3(TGM6):c.1093+1G>T	TGM6	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 35	GLikely benign
Select item 1701415	NM_198994.2(TGM6):c.425_435del11	TGM6	Deletion	Spinocerebellar ataxia type 35 +1 more	GConflicting classifications of pathogenicity
Select item 1687063	NM_198994.3(TGM6):c.1382T>C (p.Leu461Pro)	TGM6 (L461P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339061	NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp)	TGM6 (G388D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 1334089	NM_198994.3(TGM6):c.516A>G (p.Ile172Met)	TGM6 (I172M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +1 more	GUncertain significance
Select item 1333238	NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)	TGM6 (R342W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GLikely pathogenic
Select item 1299628	NM_198994.3(TGM6):c.1336+1G>T	TGM6	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 35	GPathogenic
Select item 1298293	NM_198994.3(TGM6):c.1429_1430insTCTCT (p.Gly477fs)	TGM6 (G477fs)	Insertion (frameshift variant)	Spinocerebellar ataxia type 35	GPathogenic
Select item 1033672	NM_198994.3(TGM6):c.64A>G (p.Thr22Ala)	TGM6 (T22A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 1027361	NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)	TGM6 (W335*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 35	GLikely pathogenic
Select item 898452	NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu)	TGM6 (P493L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GLikely benign
Select item 898451	NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu)	TGM6 (F462L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +1 more	GUncertain significance
Select item 898388	NM_198994.3(TGM6):c.834C>T (p.Ala278=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898387	NM_198994.3(TGM6):c.632G>A (p.Arg211His)	TGM6 (R211H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898304	NM_198994.3(TGM6):c.-42C>T	TGM6	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 35	GLikely benign
Select item 897366	NM_198994.3(TGM6):c.*97T>A	TGM6	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 897279	NM_198994.3(TGM6):c.1332G>A (p.Pro444=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 897278	NM_198994.3(TGM6):c.1198A>G (p.Ile400Val)	TGM6 (I400V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 897277	NM_198994.3(TGM6):c.1170C>T (p.Phe390=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897213	NM_198994.3(TGM6):c.622G>A (p.Val208Met)	TGM6 (V208M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 897212	NM_198994.3(TGM6):c.595G>A (p.Gly199Ser)	TGM6 (G199S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GLikely benign
Select item 897211	NM_198994.3(TGM6):c.543+7A>G	TGM6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896866	NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser)	TGM6 (P689S)	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 896800	NM_198994.3(TGM6):c.1093+10A>G	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 896799	NM_198994.3(TGM6):c.990-6T>C	TGM6	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 896740	NM_198994.3(TGM6):c.390C>T (p.Gly130=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896739	NM_198994.3(TGM6):c.277A>G (p.Met93Val)	TGM6 (M93V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GLikely benign
Select item 896738	NM_198994.3(TGM6):c.181+10C>T	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 895465	NM_198994.3(TGM6):c.1678+12C>A	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 895402	NM_198994.3(TGM6):c.951C>T (p.Phe317=)	TGM6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 895401	NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr)	TGM6 (D305Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 895400	NM_198994.3(TGM6):c.878G>A (p.Arg293Gln)	TGM6 (R293Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895399	NM_198994.3(TGM6):c.850+4C>T	TGM6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895318	NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)	TGM6 (R13Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 805665	NM_198994.3(TGM6):c.621C>A (p.Asp207Glu)	TGM6 (D207E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +1 more	GConflicting classifications of pathogenicity
Select item 804161	NM_198994.3(TGM6):c.1967+59AG[2]	TGM6	Microsatellite (intron variant)	Spinocerebellar ataxia type 35	GBenign
Select item 790214	NM_198994.3(TGM6):c.2052G>A (p.Val684=)	TGM6	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 781748	NM_198994.3(TGM6):c.31T>G (p.Trp11Gly)	TGM6 (W11G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 746688	NM_198994.3(TGM6):c.245G>C (p.Gly82Ala)	TGM6 (G82A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 712866	NM_198994.3(TGM6):c.481A>G (p.Ser161Gly)	TGM6 (S161G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 638499	NM_198994.3(TGM6):c.674T>G (p.Val225Gly)	TGM6 (V225G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 523569	NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)	TGM6 (P26S)	Single nucleotide variant (missense variant)	Oculomotor apraxia +5 more	GUncertain significance
Select item 493316	NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr)	TGM6 (R451T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448675	NM_198994.3(TGM6):c.379C>T (p.Arg127Trp)	TGM6 (R127W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GLikely benign
Select item 448664	NM_198994.3(TGM6):c.1089T>C (p.Ser363=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 448663	NM_198994.3(TGM6):c.1011G>A (p.Glu337=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 437001	NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)	TGM6 (R231*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 337942	NM_198994.3(TGM6):c.*87C>A	TGM6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 337941	NM_198994.3(TGM6):c.*31T>C	TGM6	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337940	NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser)	TGM6 (R665S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 337939	NM_198994.3(TGM6):c.1968-10C>T	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337938	NM_198994.3(TGM6):c.1968-11C>T	TGM6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 337936	NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser)	TGM6 (P564S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 337935	NM_198994.3(TGM6):c.1678+11G>T	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 337934	NM_198994.3(TGM6):c.1657G>A (p.Val553Met)	TGM6 (V553M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 337933	NM_198994.3(TGM6):c.1656C>T (p.Ala552=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 337932	NM_198994.3(TGM6):c.1653C>T (p.His551=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35 +1 more	GBenign/Likely benign
Select item 337931	NM_198994.3(TGM6):c.1580T>A (p.Val527Glu)	TGM6 (V527E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GBenign
Select item 337930	NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp)	TGM6 (G508D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 337929	NM_198994.3(TGM6):c.1501G>A (p.Val501Met)	TGM6 (V501M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 337928	NM_198994.3(TGM6):c.1452C>T (p.Asp484=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 337927	NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys)	TGM6 (W472C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 337926	NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)	TGM6 (R448W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 337925	NM_198994.3(TGM6):c.1235G>A (p.Arg412His)	TGM6 (R412H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +3 more	GBenign/Likely benign
Select item 337924	NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys)	TGM6 (E406K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 337923	NM_198994.3(TGM6):c.1171G>A (p.Val391Met)	TGM6 (V391M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337922	NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr)	TGM6 (A376T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 337921	NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln)	TGM6 (R368Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 337920	NM_198994.3(TGM6):c.1093+5G>A	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337919	NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu)	TGM6 (P347L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337918	NM_198994.3(TGM6):c.992A>G (p.Asn331Ser)	TGM6 (N331S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 337917	NM_198994.3(TGM6):c.989+11C>T	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337916	NM_198994.3(TGM6):c.940G>A (p.Val314Met)	TGM6 (V314M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 337915	NM_198994.3(TGM6):c.883G>A (p.Val295Met)	TGM6 (V295M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 337914	NM_198994.3(TGM6):c.850+12G>A	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337913	NM_198994.3(TGM6):c.835G>A (p.Gly279Arg)	TGM6 (G279R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GConflicting classifications of pathogenicity
Select item 337912	NM_198994.3(TGM6):c.816C>T (p.Gly272=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337911	NM_198994.3(TGM6):c.789G>A (p.Lys263=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337910	NM_198994.3(TGM6):c.787A>G (p.Lys263Glu)	TGM6 (K263E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GUncertain significance
Select item 337909	NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)	TGM6 (G243S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GConflicting classifications of pathogenicity
Select item 337908	NM_198994.3(TGM6):c.717G>A (p.Gln239=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35	GLikely benign
Select item 337907	NM_198994.3(TGM6):c.555C>T (p.Asp185=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 337906	NM_198994.3(TGM6):c.477C>T (p.Ser159=)	TGM6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 337905	NM_198994.3(TGM6):c.422C>A (p.Ala141Glu)	TGM6 (A141E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 337904	NM_198994.3(TGM6):c.303C>T (p.Leu101=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35	GLikely benign
Select item 337903	NM_198994.3(TGM6):c.95T>G (p.Val32Gly)	TGM6 (V32G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 337902	NM_198994.3(TGM6):c.42G>A (p.Ser14=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 337901	NM_198994.3(TGM6):c.12C>G (p.Ile4Met)	TGM6 (I4M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 337900	NM_198994.3(TGM6):c.-2A>G	TGM6	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 337899	NM_198994.3(TGM6):c.-5T>A	TGM6	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 35	GUncertain significance
Select item 337898	NM_198994.3(TGM6):c.-36T>C	TGM6	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 35	GBenign

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