"Revvity Omics, Revvity"[submitter] AND "TGM5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437072	NM_201631.4(TGM5):c.1518A>T (p.Gln506His)	TGM5 (Q424H +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 157567	NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)	TGM5 (K445N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1325191	NM_201631.4(TGM5):c.829C>T (p.Gln277Ter)	TGM5 (Q195* +1 more)	Single nucleotide variant (nonsense)	Acral peeling skin syndrome	GLikely pathogenic
Select item 1325190	NM_201631.4(TGM5):c.393C>A (p.Tyr131Ter)	TGM5 (Y131*)	Single nucleotide variant (nonsense +1 more)	Acral peeling skin syndrome	GLikely pathogenic
Select item 2355114	NM_201631.4(TGM5):c.380C>T (p.Ser127Phe)	TGM5 (S127F)	Single nucleotide variant (missense variant +1 more)	Acral peeling skin syndrome +1 more	GUncertain significance
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

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