ClinVar for MedGen (Select 979785) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976856	NM_006147.4(IRF6):c.194G>A (p.Gly65Glu)	IRF6 (G65E)	Single nucleotide variant (5 prime UTR variant +1 more)	IRF6-related condition	GUncertain significance
Select item 259926	NM_006147.4(IRF6):c.667+27C>G	IRF6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 259925	NM_006147.4(IRF6):c.459G>T (p.Ser153=)	IRF6	Single nucleotide variant (synonymous variant)	Popliteal pterygium syndrome +6 more	GBenign
Select item 259923	NM_006147.4(IRF6):c.175-5C>G	IRF6	Single nucleotide variant (intron variant)	Popliteal pterygium syndrome +6 more	GBenign
Select item 3415	NM_006147.4(IRF6):c.251G>A (p.Arg84His)	IRF6 (R84H)	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +3 more	GPathogenic
Select item 3414	NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)	IRF6 (R84C)	Single nucleotide variant (5 prime UTR variant +1 more)	IRF6-related condition +5 more	GPathogenic

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