ClinVar for MedGen (Select 82883) - ClinVar

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Items: 45

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25740001.	NM_001370959.1(POU6F2):c.1420C>T (p.Arg474Trp) GRCh37: Chr7:39491231 GRCh38: Chr7:39451632	POU6F2	R445W, R474W	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 25739992.	NM_001370959.1(POU6F2):c.440A>G (p.Asn147Ser) GRCh37: Chr7:39247061 GRCh38: Chr7:39207462	POU6F2	N118S, N147S	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 25739973.	NM_001370959.1(POU6F2):c.1567C>T (p.Arg523Trp) GRCh37: Chr7:39500223 GRCh38: Chr7:39460624	POU6F2	R494W, R523W	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 25739954.	NM_001370959.1(POU6F2):c.1093G>C (p.Val365Leu) GRCh37: Chr7:39446319 GRCh38: Chr7:39406720	POU6F2	V336L, V365L	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 25382665.	NM_001370959.1(POU6F2):c.1310C>T (p.Pro437Leu) GRCh37: Chr7:39472872 GRCh38: Chr7:39433273	POU6F2	P437L, P408L	Inborn genetic diseases, Hypogonadotropic hypogonadism	Uncertain significance (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24991696.	NM_001370959.1(POU6F2):c.947C>A (p.Pro316Gln) GRCh37: Chr7:39379589 GRCh38: Chr7:39339990	POU6F2	P287Q, P316Q	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 24991687.	NM_001370959.1(POU6F2):c.1972A>C (p.Asn658His) GRCh37: Chr7:39504094 GRCh38: Chr7:39464495	POU6F2	N629H, N658H, N593H	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 24991678.	NM_001370959.1(POU6F2):c.308C>T (p.Pro103Leu) GRCh37: Chr7:39243864 GRCh38: Chr7:39204265	POU6F2	P103L, P74L	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 24991669.	NM_001370959.1(POU6F2):c.362G>A (p.Gly121Glu) GRCh37: Chr7:39243918 GRCh38: Chr7:39204319	POU6F2	G121E, G92E	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 249916510.	NM_001370959.1(POU6F2):c.1888G>A (p.Gly630Arg) GRCh37: Chr7:39504010 GRCh38: Chr7:39464411	POU6F2	G565R, G601R, G630R	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 244331111.	NM_181303.2(NLGN3):c.366G>A (p.Trp122Ter) GRCh37: ChrX:70367965 GRCh38: ChrX:71148115	NLGN3	W122, W5	Hypogonadotropic hypogonadism	Pathogenic (Mar 8, 2023)	criteria provided, single submitter
Select item 170840312.	NM_004807.3(HS6ST1):c.1194G>A (p.Val398=) GRCh37: Chr2:129025778 GRCh38: Chr2:128268204	HS6ST1		Hypogonadotropic hypogonadism	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 170837113.	NM_032551.5(KISS1R):c.*9G>A GRCh37: Chr19:920757 GRCh38: Chr19:920757	KISS1R		Hypogonadotropic hypogonadism	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 170837014.	NM_000216.4(ANOS1):c.318+11G>A GRCh37: ChrX:8591638 GRCh38: ChrX:8623597	ANOS1		Hypogonadotropic hypogonadism	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 170829915.	NM_023110.3(FGFR1):c.457C>G (p.Pro153Ala) GRCh37: Chr8:38285603 GRCh38: Chr8:38428085	FGFR1	P145A, P151A, P153A, P184A, P62A, P64A	Hypogonadotropic hypogonadism	Uncertain significance (Jun 29, 2021)	criteria provided, single submitter
Select item 169156716.	NM_001059.3(TACR3):c.370del (p.Leu124_Val125insTer) GRCh37: Chr4:104640463 GRCh38: Chr4:103719306	TACR3		Hypogonadotropic hypogonadism	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 169156317.	NM_023110.3(FGFR1):c.621+6TG[5] GRCh37: Chr8:38285425-38285426 GRCh38: Chr8:38427907-38427908	FGFR1		Hypogonadotropic hypogonadism	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 169155818.	NM_001126128.2(PROK2):c.3G>A (p.Met1Ile) GRCh37: Chr3:71834201 GRCh38: Chr3:71785050	PROK2	M1I	Hypogonadotropic hypogonadism	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 134460319.	NM_018082.6(POLR3B):c.2637dup (p.Leu880fs) GRCh37: Chr12:106857318-106857319 GRCh38: Chr12:106463540-106463541	POLR3B	L822fs, L880fs	Hypogonadotropic hypogonadism	association (Aug 10, 2016)	no assertion criteria provided
Select item 134459920.	NM_018082.6(POLR3B):c.1199T>C (p.Phe400Ser) GRCh37: Chr12:106821072 GRCh38: Chr12:106427294	POLR3B	F342S, F400S	Hypogonadotropic hypogonadism	association (Aug 10, 2016)	no assertion criteria provided
Select item 134459321.	NM_018082.6(POLR3B):c.2818-2A>T GRCh37: Chr12:106890528 GRCh38: Chr12:106496750	LOC100287944, POLR3B		Hypogonadotropic hypogonadism	association (Aug 10, 2016)	no assertion criteria provided
Select item 134169922.	NM_173648.4(CCDC141):c.538C>T (p.Arg180Trp) GRCh37: Chr2:179826199 GRCh38: Chr2:178961472	CCDC141	R180W	Inborn genetic diseases, Hypogonadotropic hypogonadism	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134169823.	NM_173648.4(CCDC141):c.4312C>T (p.Pro1438Ser) GRCh37: Chr2:179701634 GRCh38: Chr2:178836907	CCDC141	P1438S	Hypogonadotropic hypogonadism	Uncertain significance (May 29, 2020)	criteria provided, single submitter
Select item 133290624.	NM_001127496.3(SPRY4):c.-47-4598C>G GRCh37: Chr5:141699318 GRCh38: Chr5:142319753	SPRY4	L5V	Hypogonadotropic hypogonadism	Uncertain significance (Feb 12, 2021)	criteria provided, single submitter
Select item 132628925.	NM_005599.3(NHLH2):c.25G>T (p.Ala9Ser) GRCh37: Chr1:116380969 GRCh38: Chr1:115838348	NHLH2	A9S	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 132628826.	NM_005599.3(NHLH2):c.235C>T (p.Arg79Cys) GRCh37: Chr1:116380759 GRCh38: Chr1:115838138	NHLH2	R79C	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 132626927.	NM_005599.3(NHLH2):c.91G>A (p.Val31Met) GRCh37: Chr1:116380903 GRCh38: Chr1:115838282	NHLH2	V31M	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 132626828.	NM_005599.3(NHLH2):c.26C>T (p.Ala9Val) GRCh37: Chr1:116380968 GRCh38: Chr1:115838347	NHLH2	A9V	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 98225229.	NM_017514.5(PLXNA3):c.322C>T (p.Arg108Cys) GRCh37: ChrX:153688845 GRCh38: ChrX:154460505	PLXNA3	R108C	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 98205430.	NM_004186.5(SEMA3F):c.2165C>T (p.Pro722Leu) GRCh37: Chr3:50225355 GRCh38: Chr3:50187922	SEMA3F	P623L, P691L, P722L	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 98205331.	NM_017514.5(PLXNA3):c.4075C>T (p.Arg1359Cys) GRCh37: ChrX:153696757 GRCh38: ChrX:154468414	PLXNA3	R1359C	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 98205232.	NM_017514.5(PLXNA3):c.3256C>G (p.Leu1086Val) GRCh37: ChrX:153695629 GRCh38: ChrX:154467286	PLXNA3	L1086V	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 98205133.	NM_017514.5(PLXNA3):c.1936T>C (p.Ser646Pro) GRCh37: ChrX:153693104 GRCh38: ChrX:154464761	PLXNA3	S646P	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 98205034.	NM_004186.5(SEMA3F):c.2171C>T (p.Thr724Met) GRCh37: Chr3:50225361 GRCh38: Chr3:50187928	SEMA3F	T625M, T693M, T724M	Hypogonadotropic hypogonadism	Affects	no assertion criteria provided
Select item 98204935.	NM_004186.5(SEMA3F):c.1954G>T (p.Ala652Ser) GRCh37: Chr3:50225144 GRCh38: Chr3:50187711	SEMA3F	A553S, A621S, A652S	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 98204836.	NM_004186.5(SEMA3F):c.2095C>T (p.Arg699Trp) GRCh37: Chr3:50225285 GRCh38: Chr3:50187852	SEMA3F	R600W, R668W, R699W	Inborn genetic diseases, Hypogonadotropic hypogonadism	Uncertain significance (Jun 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98204737.	NM_004186.5(SEMA3F):c.86C>T (p.Thr29Met) GRCh37: Chr3:50197141 GRCh38: Chr3:50159708	SEMA3F	T29M	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 98204638.	NM_004186.5(SEMA3F):c.1354C>A (p.Pro452Thr) GRCh37: Chr3:50222145 GRCh38: Chr3:50184712	SEMA3F	P353T, P421T, P452T	Hypogonadotropic hypogonadism	Uncertain significance	criteria provided, single submitter
Select item 42479339.	NM_018082.5(POLR3B):c.[1568T>A];[1988C>T]			Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Likely pathogenic (Feb 26, 2013)	criteria provided, single submitter
Select item 6884240.	NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) GRCh37: Chr10:122666300 GRCh38: Chr10:120906788	WDR11	F1150L	Hypogonadotropic hypogonadism, not provided, Hypogonadotropic hypogonadism 14 with or without anosmia	Conflicting interpretations of pathogenicity (Aug 22, 2023)	criteria provided, conflicting interpretations
Select item 3116641.	NM_018082.5(POLR3B):c.1568T>A GRCh37: Chr12:106826199 GRCh38: Chr12:106432421	POLR3B	V523E, V465E	Pol III-related leukodystrophy, Hypogonadotropic hypogonadism 7 with or without anosmia, Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, POLR3-related leukodystrophy, not specified, not provided, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, See cases	Pathogenic/Likely pathogenic (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1628242.	NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) GRCh37: Chr8:38272410 GRCh38: Chr8:38414892	FGFR1	R622, R529, R533, R612, R618, R620, R653, R531	Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, not provided, Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty	Pathogenic/Likely pathogenic (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1602443.	NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) GRCh37: Chr4:68606400 GRCh38: Chr4:67740682	GNRHR	R262Q	Hypogonadotropic hypogonadism, not provided, Hypogonadotropic hypogonadism 7 with or without anosmia	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1602344.	NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) GRCh37: Chr4:68619737 GRCh38: Chr4:67754019	GNRHR	Q106R	Isolated congenital hypogonadotropic hypogonadism, not provided, Gonadotropin deficiency, Hypogonadotropic hypogonadism 7 with or without anosmia	Pathogenic/Likely pathogenic (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 202245.	NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) GRCh37: Chr8:61735186 GRCh38: Chr8:60822627	CHD7	I1028V	Hypogonadotropic hypogonadism, not provided, CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE association	Pathogenic (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 45