C3495417[trait identifier] AND "ZhangYB Lab, Beihang University"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431339	NM_001135649.3(FOXI3):c.1243C>T (p.Arg415Ter)	FOXI3 (R415*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1986646	NM_001135649.3(FOXI3):c.1105AGCAATAGCACC[1] (p.369SNST[1])	FOXI3	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1353346	NM_001135649.3(FOXI3):c.719G>A (p.Arg240His)	FOXI3 (R240H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2431341	NM_001135649.3(FOXI3):c.713G>A (p.Arg238Gln)	FOXI3 (R238Q)	Single nucleotide variant (missense variant)	Hemifacial microsomia	GLikely pathogenic
Select item 2431342	NM_001135649.3(FOXI3):c.707G>A (p.Arg236Gln)	FOXI3 (R236Q)	Single nucleotide variant (missense variant)	Hemifacial microsomia	GLikely pathogenic
Select item 2431343	NM_001135649.3(FOXI3):c.706C>T (p.Arg236Trp)	FOXI3 (R236W)	Single nucleotide variant (missense variant)	Craniofacial microsomia 2 +1 more	GPathogenic/Likely pathogenic
Select item 2430158	NM_001135649.3(FOXI3):c.703C>T (p.Arg235Cys)	FOXI3 (R235C)	Single nucleotide variant (missense variant)	Hemifacial microsomia	GLikely pathogenic

ClinVar