ClinVar for MedGen (Select 1806136) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627786	NM_001382289.1(FSHB):c.83T>C (p.Ile28Thr)	ARL14EP-DT, FSHB (I28T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 880522	NM_001382289.1(FSHB):c.344G>A (p.Arg115Gln)	ARL14EP-DT, FSHB (R115Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 880521	NM_001382289.1(FSHB):c.312G>A (p.Lys104=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880520	NM_001382289.1(FSHB):c.245C>T (p.Pro82Leu)	ARL14EP-DT, FSHB (P82L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 878780	NM_000510.3(FSHB):c.*1430T>C	ARL14EP-DT, FSHB	Single nucleotide variant	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 878779	NM_001382289.1(FSHB):c.*1337G>A	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 878778	NM_001382289.1(FSHB):c.*841C>A	FSHB, ARL14EP-DT	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 877745	NM_001382289.1(FSHB):c.*610C>T	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 375419	NM_001382289.1(FSHB):c.343C>T (p.Arg115Ter)	ARL14EP-DT, FSHB (R115*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 24 without anosmia	GLikely pathogenic
Select item 304288	NM_001382289.1(FSHB):c.*1009G>A	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304287	NM_001382289.1(FSHB):c.*948T>G	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GLikely benign
Select item 304286	NM_001382289.1(FSHB):c.*898T>C	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304285	NM_001382289.1(FSHB):c.*872C>T	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304284	NM_001382289.1(FSHB):c.*663G>C	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304283	NM_001382289.1(FSHB):c.*635A>G	FSHB, ARL14EP-DT	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GBenign
Select item 304282	NM_001382289.1(FSHB):c.*551G>A	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304281	NM_001382289.1(FSHB):c.*520C>G	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GBenign
Select item 304280	NM_001382289.1(FSHB):c.*476A>G	FSHB, ARL14EP-DT	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GBenign
Select item 304279	NM_001382289.1(FSHB):c.*303C>A	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304278	NM_001382289.1(FSHB):c.*212T>C	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304277	NM_001382289.1(FSHB):c.327C>A (p.Ser109Arg)	ARL14EP-DT, FSHB (S109R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia +1 more	GUncertain significance
Select item 304276	NM_001382289.1(FSHB):c.59G>T (p.Ser20Ile)	ARL14EP-DT, FSHB (S20I)	Single nucleotide variant (missense variant)	FSHB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 304275	NM_001382289.1(FSHB):c.30C>G (p.Phe10Leu)	ARL14EP-DT, FSHB (F10L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304274	NM_001382289.1(FSHB):c.-38+2T>C	FSHB, ARL14EP-DT	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304273	NM_001382289.1(FSHB):c.-66C>G	FSHB, ARL14EP-DT	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 257061	NM_001382289.1(FSHB):c.228C>T (p.Tyr76=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 189329	NM_001382289.1(FSHB):c.298T>C (p.Cys100Arg)	ARL14EP-DT, FSHB (C100R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GPathogenic
Select item 139460	NM_000510.2(FSHB):c.-280G>T	ARL14EP-DT, FSHB	Single nucleotide variant	Hypogonadotropic hypogonadism 24 without anosmia	Gassociation
Select item 16242	NM_001382289.1(FSHB):c.282C>A (p.Tyr94Ter)	ARL14EP-DT, FSHB (Y94*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 24 without anosmia	GPathogenic
Select item 16241	NM_001382289.1(FSHB):c.205T>G (p.Cys69Gly)	ARL14EP-DT, FSHB (C69G)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GPathogenic
Select item 16240	NM_001382289.1(FSHB):c.236_237del (p.Val79fs)	ARL14EP-DT, FSHB (V79fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 31