ClinVar for MedGen (Select 1806136) - ClinVar

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Items: 31

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26277861.	NM_001382289.1(FSHB):c.83T>C (p.Ile28Thr) GRCh37: Chr11:30253532 GRCh38: Chr11:30231985	ARL14EP-DT, FSHB	I28T	Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Nov 2, 2023)	no assertion criteria provided
Select item 8805222.	NM_001382289.1(FSHB):c.344G>A (p.Arg115Gln) GRCh37: Chr11:30255301 GRCh38: Chr11:30233754	ARL14EP-DT, FSHB	R115Q	Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8805213.	NM_001382289.1(FSHB):c.312G>A (p.Lys104=) GRCh37: Chr11:30255269 GRCh38: Chr11:30233722	ARL14EP-DT, FSHB		not provided, Hypogonadotropic hypogonadism 24 without anosmia	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 8805204.	NM_001382289.1(FSHB):c.245C>T (p.Pro82Leu) GRCh37: Chr11:30255202 GRCh38: Chr11:30233655	ARL14EP-DT, FSHB	P82L	Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8787805.	NM_000510.3(FSHB):c.*1430T>C GRCh37: Chr11:30256777 GRCh38: Chr11:30235230	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8787796.	NM_001382289.1(FSHB):c.*1337G>A GRCh37: Chr11:30256684 GRCh38: Chr11:30235137	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8787787.	NM_001382289.1(FSHB):c.*841C>A GRCh37: Chr11:30256188 GRCh38: Chr11:30234641	FSHB, ARL14EP-DT		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8777458.	NM_001382289.1(FSHB):c.*610C>T GRCh37: Chr11:30255957 GRCh38: Chr11:30234410	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3754199.	NM_001382289.1(FSHB):c.343C>T (p.Arg115Ter) GRCh37: Chr11:30255300 GRCh38: Chr11:30233753	ARL14EP-DT, FSHB	R115*	Hypogonadotropic hypogonadism 24 without anosmia	Likely pathogenic (Feb 1, 2016)	no assertion criteria provided
Select item 30428810.	NM_001382289.1(FSHB):c.*1009G>A GRCh37: Chr11:30256356 GRCh38: Chr11:30234809	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30428711.	NM_001382289.1(FSHB):c.*948T>G GRCh37: Chr11:30256295 GRCh38: Chr11:30234748	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30428612.	NM_001382289.1(FSHB):c.*898T>C GRCh37: Chr11:30256245 GRCh38: Chr11:30234698	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30428513.	NM_001382289.1(FSHB):c.*872C>T GRCh37: Chr11:30256219 GRCh38: Chr11:30234672	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30428414.	NM_001382289.1(FSHB):c.*663G>C GRCh37: Chr11:30256010 GRCh38: Chr11:30234463	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30428315.	NM_001382289.1(FSHB):c.*635A>G GRCh37: Chr11:30255982 GRCh38: Chr11:30234435	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30428216.	NM_001382289.1(FSHB):c.*551G>A GRCh37: Chr11:30255898 GRCh38: Chr11:30234351	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30428117.	NM_001382289.1(FSHB):c.*520C>G GRCh37: Chr11:30255867 GRCh38: Chr11:30234320	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30428018.	NM_001382289.1(FSHB):c.*476A>G GRCh37: Chr11:30255823 GRCh38: Chr11:30234276	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30427919.	NM_001382289.1(FSHB):c.*303C>A GRCh37: Chr11:30255650 GRCh38: Chr11:30234103	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30427820.	NM_001382289.1(FSHB):c.*212T>C GRCh37: Chr11:30255559 GRCh38: Chr11:30234012	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30427721.	NM_001382289.1(FSHB):c.327C>A (p.Ser109Arg) GRCh37: Chr11:30255284 GRCh38: Chr11:30233737	ARL14EP-DT, FSHB	S109R	Hypogonadotropic hypogonadism 24 without anosmia, not provided	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 30427622.	NM_001382289.1(FSHB):c.59G>T (p.Ser20Ile) GRCh37: Chr11:30253508 GRCh38: Chr11:30231961	ARL14EP-DT, FSHB	S20I	not provided, Hypogonadotropic hypogonadism 24 without anosmia	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 30427523.	NM_001382289.1(FSHB):c.30C>G (p.Phe10Leu) GRCh37: Chr11:30253479 GRCh38: Chr11:30231932	ARL14EP-DT, FSHB	F10L	Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30427424.	NM_001382289.1(FSHB):c.-38+2T>C GRCh37: Chr11:30252597 GRCh38: Chr11:30231050	FSHB, ARL14EP-DT		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30427325.	NM_001382289.1(FSHB):c.-66C>G GRCh37: Chr11:30252567 GRCh38: Chr11:30231020	FSHB, ARL14EP-DT		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 25706126.	NM_001382289.1(FSHB):c.228C>T (p.Tyr76=) GRCh37: Chr11:30255185 GRCh38: Chr11:30233638	ARL14EP-DT, FSHB		not specified, not provided, Hypogonadotropic hypogonadism 24 without anosmia	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18932927.	NM_001382289.1(FSHB):c.298T>C (p.Cys100Arg) GRCh37: Chr11:30255255 GRCh38: Chr11:30233708	ARL14EP-DT, FSHB	C100R	Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic (Nov 25, 2010)	no assertion criteria provided
Select item 13946028.	NM_000510.2(FSHB):c.-280G>T GRCh37: Chr11:30252352 GRCh38: Chr11:30230805	ARL14EP-DT, FSHB		Hypogonadotropic hypogonadism 24 without anosmia	association	no assertion criteria provided
Select item 1624229.	NM_001382289.1(FSHB):c.282C>A (p.Tyr94Ter) GRCh37: Chr11:30255239 GRCh38: Chr11:30233692	ARL14EP-DT, FSHB	Y94*	Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic (Nov 25, 2010)	no assertion criteria provided
Select item 1624130.	NM_001382289.1(FSHB):c.205T>G (p.Cys69Gly) GRCh37: Chr11:30255162 GRCh38: Chr11:30233615	ARL14EP-DT, FSHB	C69G	Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic (Nov 25, 2010)	no assertion criteria provided
Select item 1624031.	NM_001382289.1(FSHB):c.236_237del (p.Val79fs) GRCh37: Chr11:30255192-30255193 GRCh38: Chr11:30233645-30233646	ARL14EP-DT, FSHB	V79fs	not provided, Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic/Likely pathogenic (Jun 3, 2019)	criteria provided, multiple submitters, no conflicts

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Items: 31