C0001080[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16358	NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)	FGFR3 (S84L)	Single nucleotide variant (missense variant +1 more)	Hypochondroplasia +9 more	GPathogenic/Likely pathogenic
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	Growth delay +31 more	GPathogenic
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +25 more	GPathogenic/Likely pathogenic
Select item 16328	NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	Hypochondroplasia +3 more	GPathogenic
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +18 more	GPathogenic
Select item 134404	NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)	FGFR3 (F384L +1 more)	Single nucleotide variant (missense variant +2 more)	Hypochondroplasia +16 more	GBenign/Likely benign
Select item 803097	NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)	FBN1, LOC113939944 (C377Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GLikely pathogenic

ClinVar