ClinVar (all) for Orgtrack (Select 507595) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974818	NM_023110.3(FGFR1):c.208G>A (p.Gly70Arg)	FGFR1 (G103R +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 974817	NM_023110.3(FGFR1):c.211G>A (p.Val71Met)	FGFR1 (V104M +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 974816	NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg)	FGFR1 (G130R +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely pathogenic
Select item 974815	NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp)	FGFR1 (G135D +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 974814	NM_023110.3(FGFR1):c.887A>G (p.Asn296Ser)	FGFR1 (N205S +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 974813	NM_023110.3(FGFR1):c.1043G>A (p.Gly348Glu)	FGFR1 (G257E +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 974812	NM_023110.3(FGFR1):c.1430+1G>T	FGFR1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 974811	NM_023110.3(FGFR1):c.1823C>A (p.Ala608Asp)	FGFR1 (A515D +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 548670	NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys)	FGFR1 (R209C +5 more)	Single nucleotide variant (missense variant)	FGFR1-related disorder	GLikely pathogenic
Select item 180160	NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg)	FGFR1 (G687R +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GPathogenic/Likely pathogenic