TGM2[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 152490	GRCh38/hg38 20q11.23(chr20:38110353-38199281)x3	LOC130065840, TGM2	Copy number gain	See cases	GUncertain significance
Select item 735348	NM_004613.4(TGM2):c.2058C>T (p.Pro686=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367105	NM_004613.4(TGM2):c.2005G>A (p.Glu669Lys)	TGM2 (E588K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737149	NM_004613.4(TGM2):c.1968G>A (p.Pro656=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3176718	NM_004613.4(TGM2):c.1927G>A (p.Glu643Lys)	TGM2 (E583K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786676	NM_004613.4(TGM2):c.1923C>T (p.Pro641=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473569	NM_004613.4(TGM2):c.1919A>G (p.Asp640Gly)	TGM2 (D559G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176717	NM_004613.4(TGM2):c.1915C>T (p.Pro639Ser)	TGM2 (P579S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513512	NM_004613.4(TGM2):c.1906G>C (p.Val636Leu)	TGM2 (V555L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788032	NM_004613.4(TGM2):c.1905G>A (p.Thr635=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604122	NM_004613.4(TGM2):c.1877G>C (p.Gly626Ala)	TGM2 (G626A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176716	NM_004613.4(TGM2):c.1796A>T (p.Gln599Leu)	TGM2 (Q518L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209053	NM_004613.4(TGM2):c.1775G>A (p.Arg592Gln)	TGM2 (R511Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176715	NM_004613.4(TGM2):c.1766T>C (p.Ile589Thr)	TGM2 (I589T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545155	NM_004613.4(TGM2):c.1732G>A (p.Ala578Thr)	TGM2 (A497T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552547	NM_004613.4(TGM2):c.1709C>T (p.Pro570Leu)	TGM2 (P489L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216849	NM_004613.4(TGM2):c.1636A>G (p.Ile546Val)	TGM2 (I486V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713744	NM_004613.4(TGM2):c.1624G>T (p.Val542Phe)	TGM2 (V461F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718653	NM_004613.4(TGM2):c.1539C>T (p.Thr513=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3176714	NM_004613.4(TGM2):c.1517G>A (p.Arg506His)	TGM2 (R425H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213239	NM_004613.4(TGM2):c.1498G>A (p.Ala500Thr)	TGM2 (A440T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479137	NM_004613.4(TGM2):c.1487C>A (p.Thr496Asn)	TGM2 (T415N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 765126	NM_004613.4(TGM2):c.1347C>A (p.Ser449=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732771	NM_004613.4(TGM2):c.1302C>T (p.Asp434=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725724	NM_004613.4(TGM2):c.1248C>A (p.Ile416=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2226384	NM_004613.4(TGM2):c.1201G>A (p.Val401Met)	TGM2 (V320M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770468	NM_004613.4(TGM2):c.1170G>A (p.Ala390=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2612922	NM_004613.4(TGM2):c.1153A>G (p.Ser385Gly)	TGM2 (S304G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532675	NM_004613.4(TGM2):c.1135A>C (p.Ile379Leu)	TGM2 (I298L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781564	NM_004613.4(TGM2):c.1130G>A (p.Arg377His)	TGM2 (R296H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 761578	NM_004613.4(TGM2):c.1104G>A (p.Thr368=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735921	NM_004613.4(TGM2):c.1039C>T (p.Leu347=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744645	NM_004613.4(TGM2):c.1035G>A (p.Pro345=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3176726	NM_004613.4(TGM2):c.985G>A (p.Glu329Lys)	TGM2 (E248K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777574	NM_004613.4(TGM2):c.978C>T (p.Asp326=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746895	NM_004613.4(TGM2):c.942G>A (p.Glu314=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737494	NM_004613.4(TGM2):c.915T>C (p.His305=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289236	NM_004613.4(TGM2):c.908C>T (p.Ser303Leu)	TGM2 (S222L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652314	NM_004613.4(TGM2):c.888C>T (p.Arg296=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779189	NM_004613.4(TGM2):c.846C>T (p.Ala282=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622671	NM_004613.4(TGM2):c.812G>A (p.Arg271His)	TGM2 (R190H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176724	NM_004613.4(TGM2):c.802G>A (p.Gly268Ser)	TGM2 (G187S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722637	NM_004613.4(TGM2):c.744C>T (p.Gly248=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795152	NM_004613.4(TGM2):c.735C>T (p.Tyr245=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2462796	NM_004613.4(TGM2):c.719G>A (p.Arg240His)	TGM2 (R180H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786677	NM_004613.4(TGM2):c.651C>G (p.Pro217=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2484599	NM_004613.4(TGM2):c.626G>A (p.Arg209His)	TGM2 (R149H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800056	NM_004613.4(TGM2):c.621C>T (p.Ala207=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3325744	NM_004613.4(TGM2):c.478G>A (p.Val160Ile)	TGM2 (V160I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591580	NM_004613.4(TGM2):c.467G>A (p.Arg156Gln)	TGM2 (R96Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729649	NM_004613.4(TGM2):c.435G>A (p.Ala145=)	TGM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770815	NM_004613.4(TGM2):c.433+3G>A	TGM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2472165	NM_004613.4(TGM2):c.371G>A (p.Gly124Asp)	TGM2 (G124D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176720	NM_004613.4(TGM2):c.347G>T (p.Arg116Leu)	TGM2 (R116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785654	NM_004613.4(TGM2):c.328G>A (p.Ala110Thr)	TGM2 (A110T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 736016	NM_004613.4(TGM2):c.303G>A (p.Ser101=)	TGM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2326910	NM_004613.4(TGM2):c.302C>T (p.Ser101Leu)	TGM2 (S101L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356694	NM_004613.4(TGM2):c.274G>A (p.Val92Met)	TGM2 (V32M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176719	NM_004613.4(TGM2):c.272C>T (p.Thr91Ile)	TGM2 (T31I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778622	NM_004613.4(TGM2):c.227G>A (p.Arg76His)	TGM2 (R16H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2467425	NM_004613.4(TGM2):c.226C>T (p.Arg76Cys)	TGM2 (R16C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735041	NM_004613.4(TGM2):c.213C>T (p.Ala71=)	TGM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3176713	NM_004613.4(TGM2):c.143G>A (p.Arg48His)	TGM2 (R48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176712	NM_004613.4(TGM2):c.142C>T (p.Arg48Cys)	TGM2 (R48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176711	NM_004613.4(TGM2):c.140G>A (p.Gly47Asp)	TGM2 (G47D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745373	NM_004613.4(TGM2):c.100C>A (p.Arg34=)	TGM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 722425	NM_004613.4(TGM2):c.84G>A (p.Arg28=)	TGM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3176725	NM_004613.4(TGM2):c.83G>A (p.Arg28Gln)	TGM2 (R28Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176723	NM_004613.4(TGM2):c.73G>A (p.Asp25Asn)	TGM2 (D25N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558281	NM_004613.4(TGM2):c.65A>G (p.His22Arg)	TGM2 (H22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176721	NM_004613.4(TGM2):c.56G>A (p.Arg19Gln)	TGM2 (R19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685645	GRCh37/hg19 20q11.23(chr20:36112920-36787057)x1	BLCAP, CTNNBL1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 78