Related gene-specific medical variations for Gene (Select 2488) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280040	NM_001382289.1(FSHB):c.50G>A (p.Cys17Tyr)	ARL14EP-DT, FSHB (C17Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097191	NM_001382289.1(FSHB):c.326G>C (p.Ser109Thr)	ARL14EP-DT, FSHB (S109T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051652	NM_001382289.1(FSHB):c.333T>C (p.Asp111=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	FSHB-related disorder	GLikely benign
Select item 3006046	NM_001382289.1(FSHB):c.237G>A (p.Val79=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2398825	NM_001382289.1(FSHB):c.107G>A (p.Arg36His)	ARL14EP-DT, FSHB (R36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320825	NM_001382289.1(FSHB):c.287T>C (p.Val96Ala)	ARL14EP-DT, FSHB (V96A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291173	NM_001382289.1(FSHB):c.322G>C (p.Asp108His)	ARL14EP-DT, FSHB (D108H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1658041	NM_001382289.1(FSHB):c.147C>T (p.Tyr49=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651082	NM_001382289.1(FSHB):c.342G>A (p.Val114=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1472097	NM_001382289.1(FSHB):c.184A>T (p.Arg62Trp)	ARL14EP-DT, FSHB (R62W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341155	GRCh37/hg19 11p14.1(chr11:30217502-30293769)x1	FSHB	Copy number loss	not provided	GLikely benign
Select item 1271122	NM_001382289.1(FSHB):c.-37-95A>T	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243392	NM_001382289.1(FSHB):c.159+33T>C	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220841	NM_001382289.1(FSHB):c.-37-224T>G	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 979925	GRCh37/hg19 11p14.1(chr11:30216157-30276703)x1	FSHB	Copy number loss	not provided	GLikely benign
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 +1 more	GUncertain significance
Select item 880521	NM_001382289.1(FSHB):c.312G>A (p.Lys104=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 24 without anosmia +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 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 756693	NM_001382289.1(FSHB):c.108T>C (p.Arg36=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752051	NM_001382289.1(FSHB):c.6G>A (p.Lys2=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733609	NM_001382289.1(FSHB):c.131C>G (p.Thr44Ser)	ARL14EP-DT, FSHB (T44S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685976	GRCh37/hg19 11p14.1(chr11:30217030-30276703)x1	FSHB	Copy number loss	not provided	GPathogenic
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 +1 more	GUncertain significance
Select item 304287	NM_001382289.1(FSHB):c.*948T>G	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 +1 more	GBenign
Select item 304280	NM_001382289.1(FSHB):c.*476A>G	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia +1 more	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)	not provided +1 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 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: 48