C1563720[trait identifier] AND "OMIM"[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16302	NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr)	FGFR1 (D768Y +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GUncertain significance
Select item 16301	NM_023110.3(FGFR1):c.2292G>T (p.Gln764His)	FGFR1 (Q764H +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 16292	NM_023110.2(FGFR1):c.[2165C>A;2172C>G]	FGFR1 (N635K +14 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	Grisk factor
Select item 50851	NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly)	FGFR1 (E692G +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 16293	NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter)	FGFR1 (Q680* +7 more)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GPathogenic/Likely pathogenic
Select item 50852	NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys)	FGFR1 (E670K +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 16282	NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)	FGFR1 (R622* +7 more)	Single nucleotide variant (nonsense)	Pfeiffer syndrome +5 more	GPathogenic/Likely pathogenic
Select item 16296	NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)	FGFR1 (R609* +7 more)	Single nucleotide variant (nonsense)	Pfeiffer syndrome +2 more	GPathogenic
Select item 50850	NM_023110.3(FGFR1):c.1447C>A (p.Pro483Thr)	FGFR1 (P483T +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GUncertain significance
Select item 16294	NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu)	FGFR1 (R470L +7 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 16290	NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg)	FGFR1 (C381R +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 16299	NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	FGFR1 (P366L +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 50849	NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg)	FGFR1 (G348R +5 more)	Single nucleotide variant (missense variant)	FGFR1-Related Disorders +2 more	GPathogenic
Select item 16295	NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser)	FGFR1 (L342S +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 16289	NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)	FGFR1 (I300T +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 16279	NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)	FGFR1 (P252R +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +7 more	GPathogenic
Select item 16303	NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)	FGFR1 (R250Q +5 more)	Single nucleotide variant (missense variant)	Pfeiffer syndrome +1 more	GPathogenic
Select item 16291	NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser)	FGFR1 (G237S +5 more)	Single nucleotide variant (missense variant)	FGFR1-Related Disorders +1 more	GLikely pathogenic
Select item 16298	NM_023110.3(FGFR1):c.142G>A (p.Gly48Ser)	FGFR1 (G48S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3452	NM_144773.4(PROKR2):c.58del (p.His20fs)	PROKR2 (H20fs)	Deletion (frameshift variant)	not specified +4 more	GConflicting classifications of pathogenicity

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Items: 20