C0016395[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1758058	NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)	PORCN (R232* +4 more)	Single nucleotide variant (nonsense)	Focal dermal hypoplasia +1 more	GPathogenic
Select item 1027956	NM_203475.3(PORCN):c.964C>G (p.Leu322Val)	PORCN (L240V +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GUncertain significance
Select item 2671905	NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)	PORCN (Y277* +4 more)	Duplication (nonsense)	Focal dermal hypoplasia	GPathogenic

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