C0010278[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287276	NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys)	FGFR3 (R200C)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome +26 more	GPathogenic/Likely pathogenic
Select item 373946	NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter)	TRPS1 (W410* +3 more)	Single nucleotide variant (nonsense)	Sparse and thin eyebrow +6 more	GLikely pathogenic
Select item 373988	NM_003995.4(NPR2):c.779A>T (p.Glu260Val)	NPR2 (E260V)	Single nucleotide variant (missense variant)	Growth delay +3 more	GLikely pathogenic
Select item 373987	NM_003995.4(NPR2):c.2162_2172del (p.Ser721fs)	NPR2 (S721fs +1 more)	Deletion (frameshift variant)	Growth delay +3 more	GLikely pathogenic
Select item 13263	NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	FGFR2 (C342Y +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +13 more	GPathogenic/Likely pathogenic
Select item 523381	NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)	GRIN2B (M739R)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +10 more	GLikely pathogenic

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