ClinVar for MedGen (Select 78541) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435265	NM_022716.4(PRRX1):c.551C>T (p.Ala184Val)	PRRX1 (A184V)	Single nucleotide variant (missense variant)	Agnathia-otocephaly complex	GUncertain significance
Select item 982406	NM_022716.4(PRRX1):c.317T>C (p.Leu106Pro)	PRRX1 (L106P)	Single nucleotide variant (missense variant)	Agnathia-otocephaly complex	GLikely pathogenic
Select item 587496	NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp)	PRRX1 (R115W)	Single nucleotide variant (missense variant)	Agnathia-otocephaly complex	GUncertain significance
Select item 50497	NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs)	PRRX1 (R92fs)	Duplication (frameshift variant)	Agnathia-otocephaly complex	GPathogenic
Select item 50496	NM_022716.4(PRRX1):c.269del (p.Lys90fs)	PRRX1 (K90fs)	Deletion (frameshift variant)	Agnathia-otocephaly complex	GPathogenic
Select item 29826	NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro)	PRRX1 (A231P)	Single nucleotide variant (3 prime UTR variant +1 more)	Agnathia-otocephaly complex	GPathogenic
Select item 29825	NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser)	PRRX1 (F113S)	Single nucleotide variant (missense variant)	Agnathia-otocephaly complex	GPathogenic

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