"PreventionGenetics, part of Exact Sciences"[submitter] AND "TGM5"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316039	NM_201631.4(TGM5):c.1773C>T (p.Asp591=)	TGM5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 316040	NM_201631.4(TGM5):c.1689G>A (p.Ala563=)	TGM5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316041	NM_201631.4(TGM5):c.1562A>G (p.Gln521Arg)	TGM5 (Q521R +1 more)	Single nucleotide variant (missense variant)	TGM5-related disorder +1 more	GBenign
Select item 885433	NM_201631.4(TGM5):c.1080C>T (p.Asp360=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 886452	NM_201631.4(TGM5):c.850G>A (p.Val284Ile)	TGM5 (V202I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3053070	NM_201631.4(TGM5):c.825C>T (p.Tyr275=)	TGM5	Single nucleotide variant (synonymous variant)	TGM5-related disorder	GLikely benign
Select item 3047452	NM_201631.4(TGM5):c.744C>T (p.Asp248=)	TGM5	Single nucleotide variant (synonymous variant)	TGM5-related disorder	GLikely benign
Select item 316059	NM_201631.4(TGM5):c.723C>G (p.Asn241Lys)	TGM5 (N241K +1 more)	Single nucleotide variant (missense variant)	TGM5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 6039	NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	TGM5 (G113C)	Single nucleotide variant (missense variant +1 more)	TGM5-related disorder +3 more	GPathogenic
Select item 316062	NM_201631.4(TGM5):c.282C>G (p.Thr94=)	TGM5	Single nucleotide variant (synonymous variant +1 more)	TGM5-related disorder +2 more	GBenign/Likely benign
Select item 778097	NM_201631.4(TGM5):c.125C>A (p.Thr42Asn)	TGM5 (T42N)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +2 more	GConflicting classifications of pathogenicity