ClinVar for MedGen (Select 87440) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 214

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25812891.	NM_000406.3(GNRHR):c.521A>G (p.Gln174Arg) GRCh37: Chr4:68619533 GRCh38: Chr4:67753815	GNRHR	Q174R	Hypogonadotropic hypogonadism 7 with or without anosmia	Pathogenic (Aug 3, 2023)	criteria provided, single submitter
Select item 25772842.	NM_000406.3(GNRHR):c.35del (p.Asn12fs) GRCh37: Chr4:68620019 GRCh38: Chr4:67754301	GNRHR	N12fs	Hypogonadotropic hypogonadism 7 with or without anosmia	Pathogenic (Jul 19, 2023)	criteria provided, single submitter
Select item 17098933.	NM_000406.3(GNRHR):c.845C>T (p.Pro282Leu) GRCh37: Chr4:68606340 GRCh38: Chr4:67740622	GNRHR	P282L	Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic (Jul 26, 2021)	criteria provided, single submitter
Select item 16751934.	NM_000406.3(GNRHR):c.415C>T (p.Arg139Cys) GRCh37: Chr4:68619639 GRCh38: Chr4:67753921	GNRHR	R139C	Hypogonadotropic hypogonadism 7 with or without anosmia	Pathogenic (Jan 23, 2018)	criteria provided, single submitter
Select item 16297505.	NM_012431.3(SEMA3E):c.999-12T>C GRCh37: Chr7:83032104 GRCh38: Chr7:83402788	SEMA3E		CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16142386.	NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) GRCh37: Chr7:82997079 GRCh38: Chr7:83367763	SEMA3E		CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16088347.	NM_012431.3(SEMA3E):c.999-16T>C GRCh37: Chr7:83032108 GRCh38: Chr7:83402792	SEMA3E		CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16052608.	NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) GRCh37: Chr7:83037703 GRCh38: Chr7:83408387	SEMA3E		CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16009079.	NM_021913.5(AXL):c.2037-10A>C GRCh37: Chr19:41762347 GRCh38: Chr19:41256442	AXL		Hypogonadotropic hypogonadism 7 with or without anosmia, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157613010.	NM_012431.3(SEMA3E):c.1366+11G>A GRCh37: Chr7:83029333 GRCh38: Chr7:83400017	SEMA3E		CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156166311.	NM_012431.3(SEMA3E):c.1668-16A>G GRCh37: Chr7:83016382 GRCh38: Chr7:83387066	SEMA3E		CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154675312.	NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) GRCh37: Chr7:83016302 GRCh38: Chr7:83386986	SEMA3E	V518I, V578I	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151915313.	NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg) GRCh37: Chr4:68606388 GRCh38: Chr4:67740670	GNRHR	L266R	not provided, Hypogonadotropic hypogonadism 7 with or without anosmia	Pathogenic/Likely pathogenic (May 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151463914.	NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr) GRCh37: Chr7:83036445 GRCh38: Chr7:83407129	SEMA3E	A201T, A261T	CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149291515.	NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys) GRCh37: Chr7:83029414 GRCh38: Chr7:83400098	SEMA3E	N432K, N372K	Inborn genetic diseases, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145802316.	NM_000406.3(GNRHR):c.401T>G (p.Val134Gly) GRCh37: Chr4:68619653 GRCh38: Chr4:67753935	GNRHR	V134G	Hypogonadotropic hypogonadism 7 with or without anosmia, not provided	Pathogenic (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144991317.	NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser) GRCh37: Chr7:83029533 GRCh38: Chr7:83400217	SEMA3E	T393S, T333S	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143323618.	NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr) GRCh37: Chr7:82997071 GRCh38: Chr7:83367755	SEMA3E	S720T, S660T	CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143124519.	NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter) GRCh37: Chr7:83032082 GRCh38: Chr7:83402766	SEMA3E	R337, R277	Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association, CHARGE association	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 141789120.	NM_012431.3(SEMA3E):c.999-10T>C GRCh37: Chr7:83032102 GRCh38: Chr7:83402786	SEMA3E		CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 141540221.	NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp) GRCh37: Chr7:83119440 GRCh38: Chr7:83490124	SEMA3E	G29D, G89D	Inborn genetic diseases, CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141464222.	NM_012431.3(SEMA3E):c.659G>A (p.Arg220His) GRCh37: Chr7:83037695 GRCh38: Chr7:83408379	SEMA3E	R160H, R220H	Inborn genetic diseases, CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140843523.	NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val) GRCh37: Chr7:83098560 GRCh38: Chr7:83469244	SEMA3E	A52V, A112V	CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139317324.	NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly) GRCh37: Chr7:82997176 GRCh38: Chr7:83367860	SEMA3E	D685G, D625G	Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association, CHARGE association	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138668625.	NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala) GRCh37: Chr7:83119473 GRCh38: Chr7:83490157	SEMA3E	V18A, V78A	Inborn genetic diseases, CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138580626.	NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu) GRCh37: Chr7:83034807 GRCh38: Chr7:83405491	SEMA3E	D259E, D319E	CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134882127.	NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser) GRCh37: Chr7:83029563 GRCh38: Chr7:83400247	SEMA3E	A323S, A383S	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132093528.	NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg) GRCh37: Chr7:83021908 GRCh38: Chr7:83392592	SEMA3E	C484R, C544R	not provided, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125619629.	NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) GRCh37: Chr7:82997196 GRCh38: Chr7:83367880	SEMA3E		not specified, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119203930.	NM_001024613.4(FEZF1):c.801+10A>T GRCh37: Chr7:121943681 GRCh38: Chr7:122303627	FEZF1		not provided, Hypogonadotropic hypogonadism 22 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108697131.	NM_012431.3(SEMA3E):c.1668-10T>G GRCh37: Chr7:83016376 GRCh38: Chr7:83387060	SEMA3E		CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108408632.	NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) GRCh37: Chr7:83277844 GRCh38: Chr7:83648528	SEMA3E		not provided, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106344833.	NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu) GRCh37: Chr7:83095899 GRCh38: Chr7:83466583	SEMA3E	V119L, V59L	not provided, Inborn genetic diseases, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106120534.	NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His) GRCh37: Chr7:82996951 GRCh38: Chr7:83367635	SEMA3E	R700H, R760H	CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105233435.	NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His) GRCh37: Chr7:83014629 GRCh38: Chr7:83385313	SEMA3E	R559H, R619H	SEMA3E-related condition, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 104418336.	NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg) GRCh37: Chr7:83119551 GRCh38: Chr7:83490235	SEMA3E	P52R	SEMA3E-related condition, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, not provided, CHARGE association	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 102786737.	NM_173648.4(CCDC141):c.187C>T (p.Leu63Phe) GRCh37: Chr2:179912049 GRCh38: Chr2:179047322	CCDC141	L63F	Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Dec 9, 2019)	criteria provided, single submitter
Select item 101011438.	NM_012431.3(SEMA3E):c.1500+5G>A GRCh37: Chr7:83023608 GRCh38: Chr7:83394292	SEMA3E		CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Jul 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96811339.	NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg) GRCh37: Chr7:83032015 GRCh38: Chr7:83402699	SEMA3E	H359R, H299R	CHARGE association, SEMA3E-related condition, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Sep 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 95572840.	NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn) GRCh37: Chr7:82997177 GRCh38: Chr7:83367861	SEMA3E	D625N, D685N	Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association, CHARGE association	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94967041.	NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) GRCh37: Chr7:83032016 GRCh38: Chr7:83402700	SEMA3E	H359D, H299D	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93120442.	NM_012431.3(SEMA3E):c.944T>G (p.Leu315Arg) GRCh37: Chr7:83034820 GRCh38: Chr7:83405504	SEMA3E	L255R, L315R	Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Oct 16, 2019)	criteria provided, single submitter
Select item 93110343.	NM_018117.12(WDR11):c.373C>T (p.Gln125Ter) GRCh37: Chr10:122619641 GRCh38: Chr10:120860129	WDR11	Q125*	Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Apr 6, 2019)	criteria provided, single submitter
Select item 90742244.	NM_000406.3(GNRHR):c.*385A>G GRCh37: Chr4:68605813 GRCh38: Chr4:67740095	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Oct 28, 2017)	criteria provided, single submitter
Select item 90742145.	NM_000406.3(GNRHR):c.*466T>G GRCh37: Chr4:68605732 GRCh38: Chr4:67740014	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90742046.	NM_000406.3(GNRHR):c.*474T>C GRCh37: Chr4:68605724 GRCh38: Chr4:67740006	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90741947.	NM_000406.3(GNRHR):c.*622T>C GRCh37: Chr4:68605576 GRCh38: Chr4:67739858	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90741848.	NM_000406.3(GNRHR):c.*662T>C GRCh37: Chr4:68605536 GRCh38: Chr4:67739818	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90741749.	NM_000406.3(GNRHR):c.*668G>A GRCh37: Chr4:68605530 GRCh38: Chr4:67739812	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90736350.	NM_000406.3(GNRHR):c.*2196G>A GRCh37: Chr4:68604002 GRCh38: Chr4:67738284	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90736251.	NM_000406.3(GNRHR):c.*2244T>C GRCh37: Chr4:68603954 GRCh38: Chr4:67738236	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90736152.	NM_000406.3(GNRHR):c.*2248T>C GRCh37: Chr4:68603950 GRCh38: Chr4:67738232	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90647553.	NM_000406.2(GNRHR):c.-699T>C GRCh37: Chr4:68620752 GRCh38: Chr4:67755034	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90641654.	NM_000406.3(GNRHR):c.*696A>T GRCh37: Chr4:68605502 GRCh38: Chr4:67739784	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90635855.	NM_000406.3(GNRHR):c.*2441T>C GRCh37: Chr4:68603757 GRCh38: Chr4:67738039	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90635756.	NM_000406.3(GNRHR):c.*2588C>T GRCh37: Chr4:68603610 GRCh38: Chr4:67737892	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90635657.	NM_000406.3(GNRHR):c.*2748C>T GRCh37: Chr4:68603450 GRCh38: Chr4:67737732	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90635558.	NM_000406.3(GNRHR):c.*2767T>C GRCh37: Chr4:68603431 GRCh38: Chr4:67737713	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90635459.	NM_000406.3(GNRHR):c.*2772A>G GRCh37: Chr4:68603426 GRCh38: Chr4:67737708	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90584260.	NM_000406.3(GNRHR):c.*3011T>C GRCh37: Chr4:68603187 GRCh38: Chr4:67737469	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90493461.	NM_000406.2(GNRHR):c.-1702A>G GRCh37: Chr4:68621755 GRCh38: Chr4:67756037	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90493362.	NM_000406.2(GNRHR):c.-1701A>C GRCh37: Chr4:68621754 GRCh38: Chr4:67756036	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90487363.	NM_000406.3(GNRHR):c.-8G>A GRCh37: Chr4:68620061 GRCh38: Chr4:67754343	GNRHR		not provided, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jul 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90487264.	NM_000406.3(GNRHR):c.12T>G (p.Ser4Arg) GRCh37: Chr4:68620042 GRCh38: Chr4:67754324	GNRHR	S4R	Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90487165.	NM_000406.3(GNRHR):c.215A>G (p.Lys72Arg) GRCh37: Chr4:68619839 GRCh38: Chr4:67754121	GNRHR	K72R	Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90487066.	NM_000406.3(GNRHR):c.399G>A (p.Val133=) GRCh37: Chr4:68619655 GRCh38: Chr4:67753937	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90480867.	NM_000406.3(GNRHR):c.*912C>T GRCh37: Chr4:68605286 GRCh38: Chr4:67739568	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90480768.	NM_000406.3(GNRHR):c.*928C>A GRCh37: Chr4:68605270 GRCh38: Chr4:67739552	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90480669.	NM_000406.3(GNRHR):c.*1275G>A GRCh37: Chr4:68604923 GRCh38: Chr4:67739205	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90480570.	NM_000406.3(GNRHR):c.*1301A>G GRCh37: Chr4:68604897 GRCh38: Chr4:67739179	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90415271.	NM_000406.2(GNRHR):c.-1464G>A GRCh37: Chr4:68621517 GRCh38: Chr4:67755799	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90415172.	NM_000406.2(GNRHR):c.-1251T>C GRCh37: Chr4:68621304 GRCh38: Chr4:67755586	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90409373.	NM_000406.3(GNRHR):c.465C>T (p.Val155=) GRCh37: Chr4:68619589 GRCh38: Chr4:67753871	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90409274.	NM_000406.3(GNRHR):c.576T>C (p.Val192=) GRCh37: Chr4:68610452 GRCh38: Chr4:67744734	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90409175.	NM_000406.3(GNRHR):c.666C>T (p.Ile222=) GRCh37: Chr4:68610362 GRCh38: Chr4:67744644	GNRHR	P180S	Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90409076.	NM_000406.3(GNRHR):c.*193A>G GRCh37: Chr4:68606005 GRCh38: Chr4:67740287	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90402777.	NM_000406.3(GNRHR):c.*1302G>C GRCh37: Chr4:68604896 GRCh38: Chr4:67739178	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90402678.	NM_000406.3(GNRHR):c.*1532C>A GRCh37: Chr4:68604666 GRCh38: Chr4:67738948	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90402579.	NM_000406.3(GNRHR):c.*1797A>G GRCh37: Chr4:68604401 GRCh38: Chr4:67738683	GNRHR		Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85300380.	NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His) GRCh37: Chr7:83119510 GRCh38: Chr7:83490194	SEMA3E	Y66H, Y6H	Inborn genetic diseases, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85065981.	NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn) GRCh37: Chr7:83029420 GRCh38: Chr7:83400104	SEMA3E	K370N, K430N	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83656182.	NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) GRCh37: Chr7:83029538 GRCh38: Chr7:83400222	SEMA3E	Y331F, Y391F	not provided, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83615383.	NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys) GRCh37: Chr7:83098575 GRCh38: Chr7:83469259	SEMA3E	M47K, M107K	CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83495884.	NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp) GRCh37: Chr7:83032043 GRCh38: Chr7:83402727	SEMA3E	R290W, R350W	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81011985.	NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) GRCh37: Chr7:82997239 GRCh38: Chr7:83367923	SEMA3E	T604M, T664M	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association, not provided	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80175186.	NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu) GRCh37: Chr2:129075877 GRCh38: Chr2:128318303	HS6ST1	D87E	Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 80175087.	NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His) GRCh37: Chr2:129025860 GRCh38: Chr2:128268286	HS6ST1	R371H	Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 78851388.	NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys) GRCh37: Chr2:179749680 GRCh38: Chr2:178884953	CCDC141	Y556C	Hypogonadotropic hypogonadism 7 with or without anosmia, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78582789.	NM_021913.5(AXL):c.1549G>A (p.Gly517Ser) GRCh37: Chr19:41754430 GRCh38: Chr19:41248525	AXL	G508S, G517S, G249S	not provided, Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 78509490.	NM_000406.3(GNRHR):c.144C>G (p.Leu48=) GRCh37: Chr4:68619910 GRCh38: Chr4:67754192	GNRHR		not provided, Hypogonadotropic hypogonadism 7 with or without anosmia	Benign/Likely benign (Sep 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 77429191.	NM_173648.4(CCDC141):c.1521A>C (p.Gln507His) GRCh37: Chr2:179751485 GRCh38: Chr2:178886758	CCDC141	Q507H	Hypogonadotropic hypogonadism 7 with or without anosmia, not provided	Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 77384792.	NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile) GRCh37: Chr2:179699124 GRCh38: Chr2:178834397	CCDC141	V1457I	Hypogonadotropic hypogonadism 7 with or without anosmia, not provided	Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 77034093.	NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser) GRCh37: Chr2:129026227 GRCh38: Chr2:128268653	HS6ST1	R249S	Hypogonadotropic hypogonadism 15 with or without anosmia, not provided, Hypogonadotropic hypogonadism 7 with or without anosmia	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72927594.	NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln) GRCh37: Chr4:68610309 GRCh38: Chr4:67744591	GNRHR	R240Q	not provided, Hypogonadotropic hypogonadism 7 with or without anosmia	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 70546295.	NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) GRCh37: Chr7:83029536 GRCh38: Chr7:83400220	SEMA3E	G392R, G332R	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70171396.	NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) GRCh37: Chr7:83036488 GRCh38: Chr7:83407172	SEMA3E	F186L, F246L	CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Benign/Likely benign (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70056197.	NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) GRCh37: Chr7:83025977 GRCh38: Chr7:83396661	SEMA3E		CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69965898.	NM_012431.3(SEMA3E):c.1366+10C>T GRCh37: Chr7:83029334 GRCh38: Chr7:83400018	SEMA3E		CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69964999.	NM_012431.3(SEMA3E):c.1144-7T>C GRCh37: Chr7:83029573 GRCh38: Chr7:83400257	SEMA3E		CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia, CHARGE association	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 698850100.	NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) GRCh37: Chr7:83036461 GRCh38: Chr7:83407145	SEMA3E		CHARGE association, CHARGE association, Hypogonadotropic hypogonadism 7 with or without anosmia	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 3