C0001080[trait identifier] AND "Baylor Genetics"[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 255344	NM_000142.5(FGFR3):c.616-6G>A	FGFR3	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +17 more	GPathogenic OOncogenic
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 16356	NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys)	FGFR3 (S279C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 16338	NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +18 more	GPathogenic/Likely pathogenic

ClinVar