343641[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 1237059	NC_000020.11:g.2380859A>G	TGM6	Single nucleotide variant	not provided	GBenign
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 337898	NM_198994.3(TGM6):c.-36T>C	TGM6	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 35	GBenign
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 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 2152324	NM_198994.3(TGM6):c.7+1G>T	TGM6	Single nucleotide variant (splice donor variant)	not provided	GLikely 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 1698253	NM_198994.3(TGM6):c.7+46G>A	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234125	NM_198994.3(TGM6):c.7+63C>T	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326244	NM_198994.3(TGM6):c.7+157G>T	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295584	NM_198994.3(TGM6):c.7+173G>A	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245437	NM_198994.3(TGM6):c.7+303A>G	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995037	NM_198994.3(TGM6):c.11del (p.Ile4fs)	TGM6 (I4fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 337901	NM_198994.3(TGM6):c.12C>G (p.Ile4Met)	TGM6 (I4M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +3 more	GBenign/Likely benign
Select item 2460616	NM_198994.3(TGM6):c.20C>A (p.Thr7Asn)	TGM6 (T7N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2596402	NM_198994.3(TGM6):c.37C>T (p.Arg13Trp)	TGM6 (R13W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 895318	NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)	TGM6 (R13Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337902	NM_198994.3(TGM6):c.42G>A (p.Ser14=)	TGM6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely 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 1256396	NM_198994.3(TGM6):c.51_56delinsTGGGTACT (p.Ala18fs)	TGM6 (A18fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1131237	NM_198994.3(TGM6):c.52G>A (p.Ala18Thr)	TGM6 (A18T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2162854	NM_198994.3(TGM6):c.75C>T (p.Tyr25=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911597	NM_198994.3(TGM6):c.78del (p.Cys27fs)	TGM6 (C27fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 523569	NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)	TGM6 (P26S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +5 more	GUncertain significance
Select item 736894	NM_198994.3(TGM6):c.84T>G (p.Pro28=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	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 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 727482	NM_198994.3(TGM6):c.111G>A (p.Ser37=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 225059	NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)	TGM6 (S39C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2152058	NM_198994.3(TGM6):c.123G>A (p.Thr41=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781541	NM_198994.3(TGM6):c.146A>T (p.Asp49Val)	TGM6 (D49V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2179240	NM_198994.3(TGM6):c.170C>T (p.Thr57Met)	TGM6 (T57M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172933	NM_198994.3(TGM6):c.171_172delinsAG (p.Met58Val)	TGM6 (M58V)	Indel (missense variant)	not provided	GLikely benign
Select item 717043	NM_198994.3(TGM6):c.171G>A (p.Thr57=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 717044	NM_198994.3(TGM6):c.181+8G>A	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
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 2973434	NM_198994.3(TGM6):c.181+15C>T	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293176	NM_198994.3(TGM6):c.181+169G>T	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1916948	NM_198994.3(TGM6):c.182-11C>T	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1012470	NM_198994.3(TGM6):c.188G>A (p.Arg63Gln)	TGM6 (R63Q)	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 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 2498876	NM_198994.3(TGM6):c.231G>A (p.Ser77=)	TGM6	Single nucleotide variant (synonymous variant)	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 2791568	NM_198994.3(TGM6):c.240G>A (p.Glu80=)	TGM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157972	NM_198994.3(TGM6):c.241C>T (p.Arg81Trp)	TGM6 (R81W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899966	NM_198994.3(TGM6):c.242G>T (p.Arg81Leu)	TGM6 (R81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809213	NM_198994.3(TGM6):c.242G>A (p.Arg81Gln)	TGM6 (R81Q)	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 specified +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 2880980	NM_198994.3(TGM6):c.268G>C (p.Glu90Gln)	TGM6 (E90Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 756703	NM_198994.3(TGM6):c.289_290del (p.Leu97fs)	TGM6 (L97fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
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 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 190253	NM_198994.3(TGM6):c.331C>T (p.Arg111Cys)	TGM6 (R111C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35	GPathogenic
Select item 1960416	NM_198994.3(TGM6):c.334T>C (p.Tyr112His)	TGM6 (Y112H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236053	NM_198994.3(TGM6):c.364C>T (p.Arg122Cys)	TGM6 (R122C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700551	NM_198994.3(TGM6):c.364C>A (p.Arg122Ser)	TGM6 (R122S)	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 448675	NM_198994.3(TGM6):c.379C>T (p.Arg127Trp)	TGM6 (R127W)	Single nucleotide variant (missense variant)	not provided +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 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 2084918	NM_198994.3(TGM6):c.404T>A (p.Leu135His)	TGM6 (L135H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3233556	NM_198994.3(TGM6):c.407T>A (p.Phe136Tyr)	TGM6 (F136Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227881	NM_198994.3(TGM6):c.409A>C (p.Asn137His)	TGM6 (N137H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3021254	NM_198994.3(TGM6):c.419G>A (p.Cys140Tyr)	TGM6 (C140Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 337905	NM_198994.3(TGM6):c.422C>A (p.Ala141Glu)	TGM6 (A141E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1271780	NM_198994.3(TGM6):c.424+44T>C	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295581	NM_198994.3(TGM6):c.424+204del	TGM6	Deletion (intron variant)	not provided	GBenign
Select item 1222656	NM_198994.3(TGM6):c.424+222G>A	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232940	NM_198994.3(TGM6):c.425-311del	TGM6	Deletion (intron variant)	not provided	GBenign
Select item 1220265	NM_198994.3(TGM6):c.425-312_425-311del	TGM6	Deletion (intron variant)	not provided	GLikely benign
Select item 1263642	NM_198994.3(TGM6):c.425-232T>A	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295583	NM_198994.3(TGM6):c.425-189T>A	TGM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1940998	NM_198994.3(TGM6):c.425-20G>A	TGM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701415	NM_198994.2(TGM6):c.425_435del11	TGM6	Deletion	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586824	NM_198994.3(TGM6):c.427G>A (p.Asp143Asn)	TGM6 (D143N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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