ClinVar for MedGen (Select 851825) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929861	NM_022336.4(EDAR):c.871G>A (p.Ala291Thr)	EDAR, RANBP2 (A291T)	Single nucleotide variant (missense variant)	Non-syndromic oligodontia	GPathogenic
Select item 929860	NM_022336.4(EDAR):c.404G>A (p.Cys135Tyr)	EDAR, RANBP2 (C135Y)	Single nucleotide variant (missense variant)	Non-syndromic oligodontia	GPathogenic
Select item 463880	NM_022336.4(EDAR):c.43G>A (p.Val15Ile)	EDAR, RANBP2 (V15I)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 261572	NM_022336.4(EDAR):c.319A>G (p.Met107Val)	EDAR, RANBP2 (M107V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 261571	NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg)	EDAR, RANBP2 (S380R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 217441	NM_004655.4(AXIN2):c.314T>G (p.Val105Gly)	AXIN2 (V105G)	Single nucleotide variant (missense variant)	Non-syndromic oligodontia	GPathogenic
Select item 5858	NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	EDAR, RANBP2 (V370A)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +6 more	GBenign
Select item 5852	NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)	EDAR, RANBP2 (R358*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GPathogenic

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