C0010273[trait identifier] AND "Genomic Diagnostic Laboratory, Divisio - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Abnormality of the nervous system +26 more	GPathogenic/Likely pathogenic
Select item 374823	NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	FGFR2 (E565G +9 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +12 more	GPathogenic/Likely pathogenic
Select item 374821	NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)	FGFR2 (N549H +9 more)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome	GLikely pathogenic
Select item 13277	NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	FGFR2 (Y375C +6 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder +13 more	GPathogenic/Likely pathogenic
Select item 13265	NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)	FGFR2 (S354C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +4 more	GPathogenic
Select item 13286	NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	FGFR2 (S351C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +3 more	GPathogenic
Select item 13271	NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	FGFR2 (S347C +3 more)	Single nucleotide variant (missense variant +2 more)	Hydrocephalus +25 more	GPathogenic/Likely pathogenic
Select item 13268	NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related craniosynostosis +15 more	GPathogenic
Select item 374820	NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)	FGFR2 (C342S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GPathogenic
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 13267	NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)	FGFR2 (C342S +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +3 more	GPathogenic
Select item 13266	NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)	FGFR2 (C342R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +3 more	GPathogenic
Select item 13264	NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His)	FGFR2 (Y340H +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +1 more	GPathogenic
Select item 374817	NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	FGFR2 (G338E +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome +11 more	GPathogenic/Likely pathogenic
Select item 374816	NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg)	FGFR2 (G338R +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome +1 more	GPathogenic
Select item 374815	NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)	FGFR2 (D336G +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome	GPathogenic/Likely pathogenic
Select item 13270	NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys)	FGFR2 (Y328C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +1 more	GPathogenic
Select item 374813	NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys)	FGFR2 (Y308C +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome	GPathogenic
Select item 13293	NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	FGFR2 (W290C +3 more)	Single nucleotide variant (missense variant +2 more)	Bent bone dysplasia syndrome 1 +12 more	GPathogenic
Select item 374812	NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser)	FGFR2 (W290S +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome	GPathogenic
Select item 13284	NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly)	FGFR2 (W290G +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome	GPathogenic
Select item 13283	NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)	FGFR2 (W290R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +2 more	GPathogenic
Select item 13276	NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)	FGFR2 (Q289P +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +2 more	GPathogenic
Select item 374811	NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys)	FGFR2 (Y281C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder +3 more	GLikely pathogenic
Select item 265431	NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)	FGFR2 (C278F +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +3 more	GPathogenic
Select item 374809	NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)	FGFR2 (F276V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13290	NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)	FGFR2 (S267P +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +3 more	GPathogenic
Select item 13273	NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	FGFR2 (P253R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder +13 more	GPathogenic/Likely pathogenic
Select item 13272	NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	FGFR2 (S252W +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder +13 more	GPathogenic
Select item 374808	NM_000141.5(FGFR2):c.138A>C (p.Gln46His)	FGFR2 (Q46H)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GConflicting classifications of pathogenicity

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Items: 30