ClinVar for Gene (Select 343641) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068841	NM_198994.3(TGM6):c.1190C>T (p.Ala397Val)	TGM6 (A397V)	Single nucleotide variant (missense variant)	not specified	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 3046861	NM_198994.3(TGM6):c.1470C>T (p.Ala490=)	TGM6	Single nucleotide variant (synonymous variant)	TGM6-related condition	GLikely benign
Select item 3045804	NM_198994.3(TGM6):c.1326G>A (p.Lys442=)	TGM6	Single nucleotide variant (synonymous variant)	TGM6-related condition	GLikely benign
Select item 3031141	NM_198994.3(TGM6):c.1620C>T (p.Arg540=)	TGM6	Single nucleotide variant (synonymous variant)	TGM6-related condition	GLikely benign
Select item 3029185	NM_198994.3(TGM6):c.484G>A (p.Gly162Ser)	TGM6 (G162S)	Single nucleotide variant (missense variant)	TGM6-related condition	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic
Select item 3022635	NM_198994.3(TGM6):c.850+20C>T	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021254	NM_198994.3(TGM6):c.419G>A (p.Cys140Tyr)	TGM6 (C140Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3015387	NM_198994.3(TGM6):c.1076C>T (p.Pro359Leu)	TGM6 (P359L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010507	NM_198994.3(TGM6):c.850+5C>T	TGM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3006112	NM_198994.3(TGM6):c.832G>A (p.Ala278Thr)	TGM6 (A278T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005490	NM_198994.3(TGM6):c.2055C>A (p.Asp685Glu)	TGM6 (D685E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2992260	NM_198994.3(TGM6):c.1093+4C>T	TGM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2985256	NM_198994.3(TGM6):c.1778G>A (p.Gly593Glu)	TGM6 (G593E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978283	NM_198994.3(TGM6):c.1228C>T (p.Arg410Trp)	TGM6 (R410W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973434	NM_198994.3(TGM6):c.181+15C>T	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970539	NM_198994.3(TGM6):c.877C>T (p.Arg293Trp)	TGM6 (R293W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969970	NM_198994.3(TGM6):c.1229G>A (p.Arg410Gln)	TGM6 (R410Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969857	NM_198994.3(TGM6):c.1283C>T (p.Ala428Val)	TGM6 (A428V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958601	NM_198994.3(TGM6):c.851-20C>T	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957492	NM_198994.3(TGM6):c.901G>A (p.Ala301Thr)	TGM6 (A301T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918050	NM_198994.3(TGM6):c.952G>A (p.Gly318Arg)	TGM6 (G318R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908674	NM_198994.3(TGM6):c.757G>A (p.Gly253Ser)	TGM6 (G253S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902485	NM_198994.3(TGM6):c.1577G>A (p.Arg526Gln)	TGM6 (R526Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900539	NM_198994.3(TGM6):c.1750T>C (p.Leu584=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899727	NM_198994.3(TGM6):c.1331C>T (p.Pro444Leu)	TGM6 (P444L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895746	NM_198994.3(TGM6):c.1597G>A (p.Gly533Ser)	TGM6 (G533S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891613	NM_198994.3(TGM6):c.483C>T (p.Ser161=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888363	NM_198994.3(TGM6):c.907G>A (p.Asp303Asn)	TGM6 (D303N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2882506	NM_198994.3(TGM6):c.1456C>T (p.Leu486Phe)	TGM6 (L486F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881516	NM_198994.3(TGM6):c.209C>G (p.Thr70Ser)	TGM6 (T70S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880980	NM_198994.3(TGM6):c.268G>C (p.Glu90Gln)	TGM6 (E90Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870614	NM_198994.3(TGM6):c.851-9G>T	TGM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2868012	NM_198994.3(TGM6):c.926G>A (p.Ser309Asn)	TGM6 (S309N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855553	NM_198994.3(TGM6):c.514A>G (p.Ile172Val)	TGM6 (I172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838816	NM_198994.3(TGM6):c.1716T>A (p.Tyr572Ter)	TGM6 (Y572*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2821322	NM_198994.3(TGM6):c.238G>A (p.Glu80Lys)	TGM6 (E80K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816454	NM_198994.3(TGM6):c.1336+13T>A	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810792	NM_198994.3(TGM6):c.1336+15G>A	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803219	NM_198994.3(TGM6):c.1214A>G (p.His405Arg)	TGM6 (H405R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802457	NM_198994.3(TGM6):c.1617C>T (p.Thr539=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791568	NM_198994.3(TGM6):c.240G>A (p.Glu80=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780746	NM_198994.3(TGM6):c.1592T>A (p.Leu531Gln)	TGM6 (L531Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752010	NM_198994.3(TGM6):c.653C>T (p.Thr218Ile)	TGM6 (T218I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750321	NM_198994.3(TGM6):c.1483A>G (p.Ile495Val)	TGM6 (I495V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2732415	NM_198994.3(TGM6):c.1059G>C (p.Gln353His)	TGM6 (Q353H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726136	NM_198994.3(TGM6):c.365G>A (p.Arg122His)	TGM6 (R122H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720213	NM_198994.3(TGM6):c.1133G>T (p.Arg378Leu)	TGM6 (R378L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717900	NM_198994.3(TGM6):c.1967+20G>T	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717718	NM_198994.3(TGM6):c.558C>T (p.Ile186=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716174	NM_198994.3(TGM6):c.1300C>T (p.Arg434Cys)	TGM6 (R434C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715982	NM_198994.3(TGM6):c.2098G>A (p.Val700Ile)	TGM6 (V700I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2713718	NM_198994.3(TGM6):c.813C>T (p.Tyr271=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708860	NM_198994.3(TGM6):c.51C>T (p.Gly17=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697758	NM_198994.3(TGM6):c.990G>C (p.Trp330Cys)	TGM6 (W330C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691395	NM_198994.3(TGM6):c.999T>C (p.His333=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684078	NM_198994.3(TGM6):c.1150C>T (p.Leu384=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2665057	NM_198994.3(TGM6):c.1179G>A (p.Ala393=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 2652146	NM_198994.3(TGM6):c.1812A>G (p.Leu604=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652145	NM_198994.3(TGM6):c.1066G>A (p.Asp356Asn)	TGM6 (D356N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652144	NM_198994.3(TGM6):c.612A>C (p.Pro204=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652143	NM_198994.3(TGM6):c.543+1G>T	TGM6	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2637476	NM_198994.3(TGM6):c.1134C>T (p.Arg378=)	TGM6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2637192	NM_198994.3(TGM6):c.1139G>A (p.Gly380Asp)	TGM6 (G380D)	Single nucleotide variant (missense variant)	TGM6-related condition	GUncertain significance
Select item 2636053	NM_198994.3(TGM6):c.673-1G>A	TGM6	Single nucleotide variant (splice acceptor variant)	TGM6-related condition	GLikely pathogenic
Select item 2631764	NM_198994.3(TGM6):c.1399_1400insTA (p.Ser467fs)	TGM6 (S467fs)	Insertion (frameshift variant)	TGM6-related condition	GUncertain significance
Select item 2619422	NM_198994.3(TGM6):c.497G>A (p.Arg166Gln)	TGM6 (R166Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596402	NM_198994.3(TGM6):c.37C>T (p.Arg13Trp)	TGM6 (R13W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580497	NM_198994.3(TGM6):c.1523del (p.Gly508fs)	TGM6 (G508fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2577207	NM_198994.3(TGM6):c.732C>T (p.Gly244=)	TGM6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2577206	NM_198994.3(TGM6):c.1678+9A>T	TGM6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2573675	NM_198994.3(TGM6):c.767C>T (p.Ala256Val)	TGM6 (A256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572907	NM_198994.3(TGM6):c.1984C>A (p.Pro662Thr)	TGM6 (A617D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546603	NM_198994.3(TGM6):c.1088G>A (p.Ser363Asn)	TGM6 (S363N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524374	NM_198994.3(TGM6):c.1420C>T (p.Arg474Cys)	TGM6 (R474C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2506129	NM_198994.3(TGM6):c.1679-11T>C	TGM6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2506128	NM_198994.3(TGM6):c.990-1G>C	TGM6	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GUncertain significance
Select item 2498876	NM_198994.3(TGM6):c.231G>A (p.Ser77=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488606	NM_198994.3(TGM6):c.685A>T (p.Asn229Tyr)	TGM6 (N229Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486643	NM_198994.3(TGM6):c.602A>C (p.Gln201Pro)	TGM6 (Q201P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481521	NM_198994.3(TGM6):c.1568G>C (p.Arg523Pro)	TGM6 (R523P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476961	NM_198994.3(TGM6):c.545T>C (p.Phe182Ser)	TGM6 (F182S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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)	Spinocerebellar ataxia type 35 +1 more	GConflicting classifications of pathogenicity
Select item 2427639	NC_000020.10:g.(?_2375078)_(2443893_?)dup	SNRPB, TGM6	Duplication	not provided	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2418231	NM_198994.3(TGM6):c.1969G>A (p.Val657Met)	TGM6 (R612H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416568	NM_198994.3(TGM6):c.1312A>G (p.Thr438Ala)	TGM6 (T438A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416289	NM_198994.3(TGM6):c.496C>T (p.Arg166Ter)	TGM6 (R166*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2361786	NM_198994.3(TGM6):c.1192G>A (p.Asp398Asn)	TGM6 (D398N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2333131	NM_198994.3(TGM6):c.1576C>G (p.Arg526Gly)	TGM6 (R526G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2328658	NM_198994.3(TGM6):c.184C>T (p.Pro62Ser)	TGM6 (P62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323185	NM_198994.3(TGM6):c.1022C>T (p.Ala341Val)	TGM6 (A341V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300530	NM_198994.3(TGM6):c.1916G>C (p.Cys639Ser)	TGM6 (C639S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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