ClinVar for MedGen (Select 75554) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431350	NM_001135649.3(FOXI3):c.702C>A (p.Phe234Leu)	FOXI3 (F234L)	Single nucleotide variant (missense variant)	Craniofacial microsomia 2 +1 more	GPathogenic/Likely pathogenic
Select item 2431349	NM_001135649.3(FOXI3):c.700T>G (p.Phe234Val)	FOXI3 (F234V)	Single nucleotide variant (missense variant)	Craniofacial microsomia 2 +1 more	GPathogenic/Likely pathogenic
Select item 2431348	NM_001135649.3(FOXI3):c.673T>C (p.Cys225Arg)	FOXI3 (C225R)	Single nucleotide variant (missense variant)	Craniofacial microsomia	GLikely pathogenic
Select item 2431347	NM_001135649.3(FOXI3):c.305T>A (p.Phe102Tyr)	FOXI3 (F102Y)	Single nucleotide variant (missense variant)	Craniofacial microsomia	GLikely pathogenic
Select item 2431340	NM_001135649.3(FOXI3):c.718C>T (p.Arg240Cys)	FOXI3 (R240C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342295	NM_001257096.2(PAX1):c.1154_1157dup (p.Tyr386Ter)	PAX1 (Y386*)	Duplication (nonsense)	Craniofacial microsomia	GLikely pathogenic

ClinVar