ClinVar for MedGen (Select 904670) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671803	NM_001372076.1(PAX9):c.637dup (p.Asp213fs)	PAX9 (D213fs)	Duplication (frameshift variant)	Oligodontia	GPathogenic
Select item 2671802	NM_001372076.1(PAX9):c.771G>A (p.Gln257=)	PAX9	Single nucleotide variant (synonymous variant)	Oligodontia	GPathogenic
Select item 1697975	NM_002336.3(LRP6):c.1762+2T>C	LRP6	Single nucleotide variant (splice donor variant +1 more)	Oligodontia	GPathogenic
Select item 1697974	NM_002336.3(LRP6):c.1870dup (p.Met624fs)	LRP6 (M624fs)	Duplication (frameshift variant)	Oligodontia	GPathogenic
Select item 1119978	NM_001372076.1(PAX9):c.152G>T (p.Gly51Val)	PAX9 (G51V)	Single nucleotide variant (missense variant)	Oligodontia	GPathogenic
Select item 1064708	NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter)	MSX1 (Q193*)	Insertion (nonsense)	Oligodontia	GPathogenic
Select item 1064707	NM_001372076.1(PAX9):c.409C>T (p.Gln137Ter)	PAX9 (Q137*)	Single nucleotide variant (nonsense)	Oligodontia	GPathogenic
Select item 1064706	NM_001372076.1(PAX9):c.243del (p.Thr82fs)	PAX9 (T82fs)	Deletion (frameshift variant)	Oligodontia	GPathogenic
Select item 1064705	NM_001372076.1(PAX9):c.140G>C (p.Arg47Pro)	PAX9 (R47P)	Single nucleotide variant (missense variant)	Oligodontia	GPathogenic
Select item 1064704	NM_001372076.1(PAX9):c.146C>T (p.Ser49Leu)	PAX9 (S49L)	Single nucleotide variant (missense variant)	Oligodontia	GPathogenic
Select item 986783	NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr)	RANBP2, EDAR (C113Y)	Single nucleotide variant (missense variant)	Oligodontia	GPathogenic
Select item 689556	NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter)	LRP6 (Q740*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 7 +1 more	GPathogenic
Select item 617676	NM_032305.3(POLR3GL):c.-41-1G>A	POLR3GL	Single nucleotide variant (splice acceptor variant)	POLR3GL-related disorder	GPathogenic
Select item 617636	NM_032305.3(POLR3GL):c.326-1G>A	LOC129931343, POLR3GL	Single nucleotide variant (splice acceptor variant)	Short stature, oligodontia, dysmorphic facies, and motor delay +4 more	GPathogenic/Likely pathogenic
Select item 599333	NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs)	AXIN2 (P494fs)	Duplication (frameshift variant)	Colorectal cancer +2 more	GPathogenic
Select item 127943	NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)	AXIN2 (A758T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127934	NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)	AXIN2 (S390G)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +3 more	GConflicting classifications of pathogenicity