FSHB[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	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 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 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 1220841	NM_001382289.1(FSHB):c.-37-224T>G	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271122	NM_001382289.1(FSHB):c.-37-95A>T	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 756693	NM_001382289.1(FSHB):c.108T>C (p.Arg36=)	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 1658041	NM_001382289.1(FSHB):c.147C>T (p.Tyr49=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1243392	NM_001382289.1(FSHB):c.159+33T>C	ARL14EP-DT, FSHB	Single nucleotide variant (intron 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 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 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 16240	NM_001382289.1(FSHB):c.236_237del (p.Val79fs)	ARL14EP-DT, FSHB (V79fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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 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 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 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 1651082	NM_001382289.1(FSHB):c.342G>A (p.Val114=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 878780	NM_000510.3(FSHB):c.*1430T>C	ARL14EP-DT, FSHB	Single nucleotide variant	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 2427580	NC_000011.9:g.(?_30253450)_(32460464_?)del	ARL14EP, DCDC1 +9 more	Deletion	not provided	GUncertain significance
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 1341155	GRCh37/hg19 11p14.1(chr11:30217502-30293769)x1	FSHB	Copy number loss	not provided	GLikely benign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979925	GRCh37/hg19 11p14.1(chr11:30216157-30276703)x1	FSHB	Copy number loss	not provided	GLikely benign
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 685976	GRCh37/hg19 11p14.1(chr11:30217030-30276703)x1	FSHB	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 376753	GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1	MPPED2, KCNA4 +12 more	Copy number loss	11p partial monosomy syndrome	GPathogenic

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Items: 70