C1837406[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279823	NM_001365951.3(KIF1B):c.2115+6205C>T	KIF1B (R756W)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	not provided +32 more	GPathogenic
Select item 2485	NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)	SH3TC2 (Y169H)	Single nucleotide variant (missense variant)	Upper limb undergrowth +13 more	GConflicting classifications of pathogenicity

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