C0079583[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172647	NM_000359.3(TGM1):c.953C>G (p.Pro318Arg)	TGM1 (P318R)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GLikely pathogenic
Select item 12500	NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	TGM1 (G218S)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma +3 more	GPathogenic/Likely pathogenic