"PreventionGenetics, part of Exact Sciences"[submitter] AND "TGM6"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 337905	NM_198994.3(TGM6):c.422C>A (p.Ala141Glu)	TGM6 (A141E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 337906	NM_198994.3(TGM6):c.477C>T (p.Ser159=)	TGM6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3029185	NM_198994.3(TGM6):c.484G>A (p.Gly162Ser)	TGM6 (G162S)	Single nucleotide variant (missense variant)	TGM6-related disorder	GUncertain significance
Select item 448677	NM_198994.3(TGM6):c.502G>A (p.Val168Met)	TGM6 (V168M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 337907	NM_198994.3(TGM6):c.555C>T (p.Asp185=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2636053	NM_198994.3(TGM6):c.673-1G>A	TGM6	Single nucleotide variant (splice acceptor variant)	TGM6-related disorder	GLikely pathogenic
Select item 805667	NM_198994.3(TGM6):c.751T>C (p.Trp251Arg)	TGM6 (W251R)	Single nucleotide variant (missense variant)	TGM6-related disorder +1 more	GBenign/Likely benign
Select item 212403	NM_198994.3(TGM6):c.956G>A (p.Arg319Gln)	TGM6 (R319Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 337918	NM_198994.3(TGM6):c.992A>G (p.Asn331Ser)	TGM6 (N331S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2637192	NM_198994.3(TGM6):c.1139G>A (p.Gly380Asp)	TGM6 (G380D)	Single nucleotide variant (missense variant)	TGM6-related disorder	GUncertain significance
Select item 3045804	NM_198994.3(TGM6):c.1326G>A (p.Lys442=)	TGM6	Single nucleotide variant (synonymous variant)	TGM6-related disorder	GLikely benign
Select item 2631764	NM_198994.3(TGM6):c.1399_1400insTA (p.Ser467fs)	TGM6 (S467fs)	Insertion (frameshift variant)	TGM6-related disorder	GUncertain significance
Select item 337928	NM_198994.3(TGM6):c.1452C>T (p.Asp484=)	TGM6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3046861	NM_198994.3(TGM6):c.1470C>T (p.Ala490=)	TGM6	Single nucleotide variant (synonymous variant)	TGM6-related disorder	GLikely benign
Select item 337930	NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp)	TGM6 (G508D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3031141	NM_198994.3(TGM6):c.1620C>T (p.Arg540=)	TGM6	Single nucleotide variant (synonymous variant)	TGM6-related disorder	GLikely benign
Select item 337936	NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser)	TGM6 (P564S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign

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Items: 20