"Department of Second Dental Center, Ninth People’s Hospital, Shanghai - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577026	NM_001372076.1(PAX9):c.112C>T (p.Arg38Ter)	PAX9 (R38*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 3	GPathogenic
Select item 2577025	NM_001372076.1(PAX9):c.133_136del (p.Gln45fs)	PAX9 (Q45fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 13779	NM_001372076.1(PAX9):c.151G>A (p.Gly51Ser)	PAX9 (G51S)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 2577030	NM_001372076.1(PAX9):c.191del (p.Gly64fs)	PAX9 (G64fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 2577031	NM_001372076.1(PAX9):c.305del (p.Ile102fs)	PAX9 (I102fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 2577032	NM_001372076.1(PAX9):c.365C>A (p.Ser122Tyr)	PAX9 (S122Y)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 2577033	NM_001372076.1(PAX9):c.395del (p.Gly132fs)	PAX9 (G132fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic

ClinVar