ClinVar for MedGen (Select 82883) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374752	NM_023110.3(FGFR1):c.1716C>G (p.Tyr572Ter)	FGFR1 (Y479* +7 more)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism	GPathogenic
Select item 3374748	NM_006941.4(SOX10):c.713C>T (p.Pro238Leu)	POLR2F, SOX10 (P238L)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 3374746	NM_000216.4(ANOS1):c.257G>A (p.Cys86Tyr)	ANOS1 (C86Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 3251957	NM_003108.4(SOX11):c.483G>T (p.Lys161Asn)	SOX11 (K161N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3251956	NM_003108.4(SOX11):c.340C>T (p.Pro114Ser)	SOX11 (P114S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GLikely pathogenic
Select item 3251955	NM_003108.4(SOX11):c.299G>A (p.Arg100Gln)	SOX11 (R100Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GLikely pathogenic
Select item 3251954	NM_003108.4(SOX11):c.251G>A (p.Gly84Asp)	SOX11 (G84D)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GPathogenic
Select item 3251953	NM_003108.4(SOX11):c.1032_1044del (p.Ser345fs)	SOX11 (S345fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism	GPathogenic
Select item 3251952	NM_003108.4(SOX11):c.1041C>G (p.Ser347Arg)	SOX11 (S347R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 3251951	NM_003108.4(SOX11):c.809A>G (p.Tyr270Cys)	SOX11 (Y270C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 3251950	NM_003108.4(SOX11):c.647C>T (p.Thr216Met)	SOX11 (T216M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 3251949	NM_003108.4(SOX11):c.629G>T (p.Gly210Val)	SOX11 (G210V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 3251948	NM_003108.4(SOX11):c.908C>A (p.Ser303Ter)	SOX11 (S303*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism	GPathogenic
Select item 3248550	NM_001126128.2(PROK2):c.96+2T>C	PROK2	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 3248549	NM_001059.3(TACR3):c.1003C>T (p.Gln335Ter)	TACR3, TACR3-AS1 (Q335*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism	GPathogenic
Select item 3234159	NM_023110.3(FGFR1):c.1029G>A (p.Ala343=)	FGFR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3167706	NM_003108.4(SOX11):c.732C>G (p.Asp244Glu)	SOX11 (D244E)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism +1 more	GLikely benign
Select item 3054736	NM_003108.4(SOX11):c.595G>C (p.Val199Leu)	SOX11 (V199L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GLikely benign
Select item 2977367	NM_003108.4(SOX11):c.1001C>T (p.Ala334Val)	SOX11 (A334V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism +1 more	GConflicting classifications of pathogenicity
Select item 2574000	NM_001370959.1(POU6F2):c.1420C>T (p.Arg474Trp)	POU6F2 (R445W +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2573999	NM_001370959.1(POU6F2):c.440A>G (p.Asn147Ser)	POU6F2 (N118S +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2573997	NM_001370959.1(POU6F2):c.1567C>T (p.Arg523Trp)	POU6F2 (R494W +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2573995	NM_001370959.1(POU6F2):c.1093G>C (p.Val365Leu)	POU6F2 (V336L +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2538266	NM_001370959.1(POU6F2):c.1310C>T (p.Pro437Leu)	POU6F2 (P437L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2505411	NM_023110.3(FGFR1):c.670G>C (p.Asp224His)	FGFR1 (D133H +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GLikely pathogenic
Select item 2499169	NM_001370959.1(POU6F2):c.947C>A (p.Pro316Gln)	POU6F2 (P287Q +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2499168	NM_001370959.1(POU6F2):c.1972A>C (p.Asn658His)	POU6F2 (N629H +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2499167	NM_001370959.1(POU6F2):c.308C>T (p.Pro103Leu)	POU6F2 (P103L +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2499166	NM_001370959.1(POU6F2):c.362G>A (p.Gly121Glu)	POU6F2 (G121E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2499165	NM_001370959.1(POU6F2):c.1888G>A (p.Gly630Arg)	POU6F2 (G565R +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2443311	NM_181303.2(NLGN3):c.366G>A (p.Trp122Ter)	NLGN3 (W122* +1 more)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism	GPathogenic
Select item 2220282	NM_003108.4(SOX11):c.623C>T (p.Ser208Leu)	SOX11 (S208L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2061247	NM_003108.4(SOX11):c.658G>A (p.Val220Met)	SOX11 (V220M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1344603	NM_018082.6(POLR3B):c.2637dup (p.Leu880fs)	POLR3B (L822fs +1 more)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism	Gassociation
Select item 1344599	NM_018082.6(POLR3B):c.1199T>C (p.Phe400Ser)	POLR3B (F342S +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	Gassociation
Select item 1344593	NM_018082.6(POLR3B):c.2818-2A>T	LOC100287944, POLR3B	Single nucleotide variant (splice acceptor variant)	Hypogonadotropic hypogonadism	Gassociation
Select item 1341699	NM_173648.4(CCDC141):c.538C>T (p.Arg180Trp)	CCDC141 (R180W)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 1341698	NM_173648.4(CCDC141):c.4312C>T (p.Pro1438Ser)	CCDC141 (P1438S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1326289	NM_005599.3(NHLH2):c.25G>T (p.Ala9Ser)	NHLH2 (A9S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1326288	NM_005599.3(NHLH2):c.235C>T (p.Arg79Cys)	NHLH2 (R79C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1326269	NM_005599.3(NHLH2):c.91G>A (p.Val31Met)	NHLH2 (V31M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1326268	NM_005599.3(NHLH2):c.26C>T (p.Ala9Val)	NHLH2 (A9V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1304614	NM_003108.4(SOX11):c.588C>A (p.Asp196Glu)	SOX11 (D196E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 982252	NM_017514.5(PLXNA3):c.322C>T (p.Arg108Cys)	PLXNA3 (R108C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 982054	NM_004186.5(SEMA3F):c.2165C>T (p.Pro722Leu)	SEMA3F (P623L +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 982053	NM_017514.5(PLXNA3):c.4075C>T (p.Arg1359Cys)	PLXNA3 (R1359C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 982052	NM_017514.5(PLXNA3):c.3256C>G (p.Leu1086Val)	PLXNA3 (L1086V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 982051	NM_017514.5(PLXNA3):c.1936T>C (p.Ser646Pro)	PLXNA3 (S646P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 982050	NM_004186.5(SEMA3F):c.2171C>T (p.Thr724Met)	SEMA3F (T625M +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GAffects
Select item 982049	NM_004186.5(SEMA3F):c.1954G>T (p.Ala652Ser)	SEMA3F (A553S +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 982048	NM_004186.5(SEMA3F):c.2095C>T (p.Arg699Trp)	SEMA3F (R600W +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism +1 more	GUncertain significance
Select item 982047	NM_004186.5(SEMA3F):c.86C>T (p.Thr29Met)	SEMA3F (T29M)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 982046	NM_004186.5(SEMA3F):c.1354C>A (p.Pro452Thr)	SEMA3F (P353T +2 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 658717	NM_000216.4(ANOS1):c.1449+1G>A	ANOS1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 1 with or without anosmia +1 more	GPathogenic/Likely pathogenic
Select item 424793	NM_018082.5(POLR3B):c.[1568T>A];[1988C>T]			Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +8 more	GPathogenic/Likely pathogenic
Select item 16024	NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	GNRHR (R262Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 16023	NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	GNRHR (Q106R)	Single nucleotide variant (missense variant)	Gonadotropin deficiency +4 more	GPathogenic/Likely pathogenic
Select item 5757	NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg)	KISS1R	Single nucleotide variant (stop lost)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3449	NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)	PROKR2 (L173R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism +3 more	GConflicting classifications of pathogenicity

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Items: 60