"Athena Diagnostics Inc"[submitter] AND "TGM6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337900	NM_198994.3(TGM6):c.-2A>G	TGM6	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 995316	NM_198994.3(TGM6):c.7+9G>A	TGM6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 448680	NM_198994.3(TGM6):c.7+9G>T	TGM6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 995037	NM_198994.3(TGM6):c.11del (p.Ile4fs)	TGM6 (I4fs)	Deletion (frameshift variant)	See cases +1 more	GUncertain significance
Select item 337901	NM_198994.3(TGM6):c.12C>G (p.Ile4Met)	TGM6 (I4M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2460616	NM_198994.3(TGM6):c.20C>A (p.Thr7Asn)	TGM6 (T7N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337902	NM_198994.3(TGM6):c.42G>A (p.Ser14=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 1256396	NM_198994.3(TGM6):c.51_56delinsTGGGTACT (p.Ala18fs)	TGM6 (A18fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 586830	NM_198994.3(TGM6):c.97C>T (p.Arg33Cys)	TGM6 (R33C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995036	NM_198994.3(TGM6):c.109T>A (p.Ser37Thr)	TGM6 (S37T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225059	NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)	TGM6 (S39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 781541	NM_198994.3(TGM6):c.146A>T (p.Asp49Val)	TGM6 (D49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 130585	NM_198994.3(TGM6):c.172A>G (p.Met58Val)	TGM6 (M58V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 586821	NM_198994.3(TGM6):c.229T>C (p.Ser77Pro)	TGM6 (S77P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807229	NM_198994.3(TGM6):c.230C>T (p.Ser77Leu)	TGM6 (S77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995313	NM_198994.3(TGM6):c.245G>T (p.Gly82Val)	TGM6 (G82V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 746688	NM_198994.3(TGM6):c.245G>C (p.Gly82Ala)	TGM6 (G82A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1256395	NM_198994.3(TGM6):c.257C>G (p.Thr86Arg)	TGM6 (T86R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 586822	NM_198994.3(TGM6):c.304G>A (p.Ala102Thr)	TGM6 (A102T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 448676	NM_198994.3(TGM6):c.380G>A (p.Arg127Gln)	TGM6 (R127Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 586823	NM_198994.3(TGM6):c.410A>G (p.Asn137Ser)	TGM6 (N137S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337905	NM_198994.3(TGM6):c.422C>A (p.Ala141Glu)	TGM6 (A141E)	Single nucleotide variant (missense variant)	TGM6-related condition +3 more	GBenign
Select item 586824	NM_198994.3(TGM6):c.427G>A (p.Asp143Asn)	TGM6 (D143N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995314	NM_198994.3(TGM6):c.430G>A (p.Asp144Asn)	TGM6 (D144N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 337906	NM_198994.3(TGM6):c.477C>T (p.Ser159=)	TGM6	Single nucleotide variant (synonymous variant)	TGM6-related condition +3 more	GBenign
Select item 448677	NM_198994.3(TGM6):c.502G>A (p.Val168Met)	TGM6 (V168M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 448678	NM_198994.3(TGM6):c.520G>T (p.Ala174Ser)	TGM6 (A174S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2652143	NM_198994.3(TGM6):c.543+1G>T	TGM6	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 337907	NM_198994.3(TGM6):c.555C>T (p.Asp185=)	TGM6	Single nucleotide variant (synonymous variant)	TGM6-related condition +2 more	GBenign
Select item 995315	NM_198994.3(TGM6):c.573C>G (p.Leu191=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 448679	NM_198994.3(TGM6):c.587G>A (p.Arg196Gln)	TGM6 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805664	NM_198994.3(TGM6):c.618C>T (p.Thr206=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 805665	NM_198994.3(TGM6):c.621C>A (p.Asp207Glu)	TGM6 (D207E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586825	NM_198994.3(TGM6):c.644T>C (p.Ile215Thr)	TGM6 (I215T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586826	NM_198994.3(TGM6):c.687C>T (p.Asn229=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805666	NM_198994.3(TGM6):c.688G>A (p.Asp230Asn)	TGM6 (D230N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 437001	NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)	TGM6 (R231*)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 337909	NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)	TGM6 (G243S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 586827	NM_198994.3(TGM6):c.728G>C (p.Gly243Ala)	TGM6 (G243A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586828	NM_198994.3(TGM6):c.733G>A (p.Gly245Ser)	TGM6 (G245S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256397	NM_198994.3(TGM6):c.743C>T (p.Pro248Leu)	TGM6 (P248L)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 805667	NM_198994.3(TGM6):c.751T>C (p.Trp251Arg)	TGM6 (W251R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 586829	NM_198994.3(TGM6):c.755G>A (p.Arg252His)	TGM6 (R252H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 448681	NM_198994.3(TGM6):c.841del (p.Leu281fs)	TGM6 (L281fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 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 895402	NM_198994.3(TGM6):c.951C>T (p.Phe317=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 448682	NM_198994.3(TGM6):c.955C>T (p.Arg319Trp)	TGM6 (R319W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212403	NM_198994.3(TGM6):c.956G>A (p.Arg319Gln)	TGM6 (R319Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 805668	NM_198994.3(TGM6):c.982A>G (p.Ser328Gly)	TGM6 (S328G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871370	NM_198994.3(TGM6):c.986T>C (p.Met329Thr)	TGM6 (M329T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448663	NM_198994.3(TGM6):c.1011G>A (p.Glu337=)	TGM6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 805652	NM_198994.3(TGM6):c.1021G>A (p.Ala341Thr)	TGM6 (A341T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 437002	NM_198994.3(TGM6):c.1025G>A (p.Arg342Gln)	TGM6 (R342Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1807230	NM_198994.3(TGM6):c.1063C>A (p.Leu355Met)	TGM6 (L355M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 736895	NM_198994.3(TGM6):c.1094-6G>T	TGM6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 448665	NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp)	TGM6 (R368W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337921	NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln)	TGM6 (R368Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 727483	NM_198994.3(TGM6):c.1108G>A (p.Gly370Ser)	TGM6 (G370S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 337922	NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr)	TGM6 (A376T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 1256387	NM_198994.3(TGM6):c.1133G>A (p.Arg378His)	TGM6 (R378H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684078	NM_198994.3(TGM6):c.1150C>T (p.Leu384=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 448666	NM_198994.3(TGM6):c.1158C>T (p.His386=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1807228	NM_198994.3(TGM6):c.1171G>C (p.Val391Leu)	TGM6 (V391L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 586814	NM_198994.3(TGM6):c.1191C>T (p.Ala397=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 897278	NM_198994.3(TGM6):c.1198A>G (p.Ile400Val)	TGM6 (I400V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 337924	NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys)	TGM6 (E406K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 805653	NM_198994.3(TGM6):c.1226G>T (p.Ser409Ile)	TGM6 (S409I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 337925	NM_198994.3(TGM6):c.1235G>A (p.Arg412His)	TGM6 (R412H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 805654	NM_198994.3(TGM6):c.1250C>T (p.Thr417Met)	TGM6 (T417M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1256388	NM_198994.3(TGM6):c.1251G>A (p.Thr417=)	TGM6	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 995038	NM_198994.3(TGM6):c.1270A>C (p.Ile424Leu)	TGM6 (I424L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 995039	NM_198994.3(TGM6):c.1282G>T (p.Ala428Ser)	TGM6 (A428S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448667	NM_198994.3(TGM6):c.1301G>A (p.Arg434His)	TGM6 (R434H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 805655	NM_198994.3(TGM6):c.1302C>T (p.Arg434=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 805656	NM_198994.3(TGM6):c.1303G>A (p.Val435Met)	TGM6 (V435M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1256389	NM_198994.3(TGM6):c.1304T>C (p.Val435Ala)	TGM6 (V435A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805657	NM_198994.3(TGM6):c.1337-7C>A	TGM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 337926	NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)	TGM6 (R448W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 2470157	NM_198994.3(TGM6):c.1343G>A (p.Arg448Gln)	TGM6 (R448Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 995308	NM_198994.3(TGM6):c.1371G>A (p.Ala457=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898451	NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu)	TGM6 (F462L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 586815	NM_198994.3(TGM6):c.1387G>A (p.Gly463Ser)	TGM6 (G463S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 805658	NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs)	TGM6 (G477fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 995309	NM_198994.3(TGM6):c.1429_1430insCTGTCTCTGGCGTGACGACCTC (p.Gly477fs)	TGM6 (G477fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1701416	NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs)	TGM6 (G477fs)	Indel (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 809217	NM_198994.3(TGM6):c.1431G>A (p.Gly477=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 805659	NM_198994.3(TGM6):c.1433_1464dup (p.Pro489fs)	TGM6 (P489fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 337928	NM_198994.3(TGM6):c.1452C>T (p.Asp484=)	TGM6	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 35 +2 more	GBenign/Likely benign
Select item 130584	NM_198994.3(TGM6):c.1476G>A (p.Lys492=)	TGM6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 337930	NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp)	TGM6 (G508D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 448668	NM_198994.3(TGM6):c.1527C>T (p.His509=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 31085	NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)	TGM6 (L517W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 586816	NM_198994.3(TGM6):c.1556A>G (p.Asn519Ser)	TGM6 (N519S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448669	NM_198994.3(TGM6):c.1556A>C (p.Asn519Thr)	TGM6 (N519T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1807227	NM_198994.3(TGM6):c.1567C>T (p.Arg523Trp)	TGM6 (R523W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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