ClinVar for MedGen (Select 21124) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65561	NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg)	FGFR3 (V784A)	Single nucleotide variant (stop lost +2 more)	Thanatophoric dysplasia	GLikely pathogenic
Select item 16359	NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)	FGFR3 (G370C +1 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +2 more	GPathogenic
Select item 16331	NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	FGFR3 (K650E +3 more)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia, type 2 +4 more	GPathogenic

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