"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196220	NM_000142.5(FGFR3):c.348C>T (p.Arg116=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 211004	NM_000142.5(FGFR3):c.393G>A (p.Ser131=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 255340	NM_000142.5(FGFR3):c.417C>T (p.Asp139=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 197630	NM_000142.5(FGFR3):c.588C>T (p.Arg196=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1313374	NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn)	FGFR3 (S236N)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	Epidermal nevus +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 1680035	NM_000142.5(FGFR3):c.811G>A (p.Val271Met)	FGFR3 (V271M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1680053	NM_000142.5(FGFR3):c.1068G>A (p.Val356=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255323	NM_000142.5(FGFR3):c.1075+5C>T	FGFR3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1702412	NM_000142.5(FGFR3):c.1075+8C>T	FGFR3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	Connective tissue disorder +18 more	GPathogenic/Likely pathogenic
Select item 134404	NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)	FGFR3 (F384L +1 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 1702413	NM_000142.5(FGFR3):c.1182G>T (p.Thr394=)	FGFR3	Single nucleotide variant (synonymous variant +2 more)	Connective tissue disorder	GUncertain significance
Select item 1702414	NM_000142.5(FGFR3):c.1199G>T (p.Ser400Ile)	FGFR3 (S400I +1 more)	Single nucleotide variant (missense variant +2 more)	Connective tissue disorder	GUncertain significance
Select item 255329	NM_000142.5(FGFR3):c.1290C>T (p.Ser430=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 134409	NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)	FGFR3 (P449S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1702415	NM_000142.5(FGFR3):c.1524G>A (p.Lys508=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder	GUncertain significance
Select item 16338	NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +18 more	GPathogenic/Likely pathogenic
Select item 797854	NM_000142.5(FGFR3):c.1645+8C>T	FGFR3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255334	NM_000142.5(FGFR3):c.1647G>T (p.Gly549=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1680106	NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +15 more	GConflicting classifications of pathogenicity
Select item 764569	NM_000142.5(FGFR3):c.2265G>A (p.Thr755=)	FGFR3 (V733I)	Single nucleotide variant (synonymous variant +2 more)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 994395	NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser)	FGFR3	Single nucleotide variant (stop lost +2 more)	not provided +1 more	GPathogenic

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Items: 24