ClinVar for MedGen (Select 82883) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases +1 more	GUncertain significance
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)	POU6F2-related condition +1 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +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 1708403	NM_004807.3(HS6ST1):c.1194G>A (p.Val398=)	HS6ST1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1708371	NM_032551.5(KISS1R):c.*9G>A	KISS1R	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1708370	NM_000216.4(ANOS1):c.318+11G>A	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1708299	NM_023110.3(FGFR1):c.457C>G (p.Pro153Ala)	FGFR1 (P145A +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1691567	NM_001059.3(TACR3):c.370del (p.Leu124_Val125insTer)	TACR3	Deletion (frameshift variant)	Hypogonadotropic hypogonadism	GPathogenic
Select item 1691563	NM_023110.3(FGFR1):c.621+6TG[5]	FGFR1	Microsatellite (intron variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1691558	NM_001126128.2(PROK2):c.3G>A (p.Met1Ile)	PROK2 (M1I)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism	GUncertain significance
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 1332906	NM_001127496.3(SPRY4):c.-47-4598C>G	SPRY4 (L5V)	Single nucleotide variant (5 prime UTR variant +2 more)	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 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 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 68842	NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)	WDR11 (F1150L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism +2 more	GConflicting classifications of pathogenicity
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 +9 more	GPathogenic/Likely pathogenic
Select item 16282	NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)	FGFR1 (R622* +7 more)	Single nucleotide variant (nonsense)	Pfeiffer syndrome +5 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)	Hypogonadotropic hypogonadism +2 more	GPathogenic/Likely pathogenic
Select item 16023	NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	GNRHR (Q106R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2022	NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)	CHD7 (I1028V)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism +3 more	GPathogenic/Likely pathogenic

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Items: 45