ClinVar for MedGen (Select 87440) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 216

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2755816	NM_000406.3(GNRHR):c.847T>C (p.Tyr283His)	GNRHR (Y283H +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GPathogenic
Select item 2581289	NM_000406.3(GNRHR):c.521A>G (p.Gln174Arg)	GNRHR (Q174R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 2577284	NM_000406.3(GNRHR):c.35del (p.Asn12fs)	GNRHR (N12fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 1709893	NM_000406.3(GNRHR):c.845C>T (p.Pro282Leu)	GNRHR (P282L)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely pathogenic
Select item 1675193	NM_000406.3(GNRHR):c.415C>T (p.Arg139Cys)	GNRHR (R139C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 1629750	NM_012431.3(SEMA3E):c.999-12T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1614238	NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)	SEMA3E	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GLikely benign
Select item 1608834	NM_012431.3(SEMA3E):c.999-16T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1605260	NM_012431.3(SEMA3E):c.651C>T (p.Asp217=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1600907	NM_021913.5(AXL):c.2037-10A>C	AXL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1576130	NM_012431.3(SEMA3E):c.1366+11G>A	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1561663	NM_012431.3(SEMA3E):c.1668-16A>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1546753	NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile)	SEMA3E (V518I +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely benign
Select item 1519153	NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)	GNRHR (L266R)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GPathogenic/Likely pathogenic
Select item 1514639	NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr)	SEMA3E (A201T +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1492915	NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys)	SEMA3E (N432K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1458023	NM_000406.3(GNRHR):c.401T>G (p.Val134Gly)	GNRHR (V134G)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GPathogenic
Select item 1449913	NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser)	SEMA3E (T393S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1433236	NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)	SEMA3E (S720T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1431245	NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter)	SEMA3E (R337* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome +1 more	GUncertain significance
Select item 1417891	NM_012431.3(SEMA3E):c.999-10T>C	SEMA3E	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 1415402	NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp)	SEMA3E (G29D +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1414642	NM_012431.3(SEMA3E):c.659G>A (p.Arg220His)	SEMA3E (R160H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1408435	NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val)	SEMA3E (A52V +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 1393173	NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly)	SEMA3E (D685G +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 1386686	NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala)	SEMA3E (V18A +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GUncertain significance
Select item 1385806	NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu)	SEMA3E (D259E +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1348821	NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser)	SEMA3E (A323S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1320935	NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)	SEMA3E (C484R +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GUncertain significance
Select item 1256196	NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +2 more	GLikely benign
Select item 1192039	NM_001024613.4(FEZF1):c.801+10A>T	FEZF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1086971	NM_012431.3(SEMA3E):c.1668-10T>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1084086	NM_012431.3(SEMA3E):c.15G>A (p.Gly5=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1063448	NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu)	SEMA3E (V119L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +3 more	GUncertain significance
Select item 1061205	NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)	SEMA3E (R700H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1052334	NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His)	SEMA3E (R559H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1044183	NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg)	SEMA3E (P52R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 1027867	NM_173648.4(CCDC141):c.187C>T (p.Leu63Phe)	CCDC141 (L63F)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 1010114	NM_012431.3(SEMA3E):c.1500+5G>A	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 968113	NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)	SEMA3E (H359R +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 955728	NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)	SEMA3E (D625N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 949670	NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)	SEMA3E (H359D +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 931204	NM_012431.3(SEMA3E):c.944T>G (p.Leu315Arg)	SEMA3E (L255R +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 931103	NM_018117.12(WDR11):c.373C>T (p.Gln125Ter)	WDR11 (Q125*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907422	NM_000406.3(GNRHR):c.*385A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 907421	NM_000406.3(GNRHR):c.*466T>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907420	NM_000406.3(GNRHR):c.*474T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907419	NM_000406.3(GNRHR):c.*622T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907418	NM_000406.3(GNRHR):c.*662T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907417	NM_000406.3(GNRHR):c.*668G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907363	NM_000406.3(GNRHR):c.*2196G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907362	NM_000406.3(GNRHR):c.*2244T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907361	NM_000406.3(GNRHR):c.*2248T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906475	NM_000406.2(GNRHR):c.-699T>C	GNRHR	Single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906416	NM_000406.3(GNRHR):c.*696A>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906358	NM_000406.3(GNRHR):c.*2441T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 906357	NM_000406.3(GNRHR):c.*2588C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906356	NM_000406.3(GNRHR):c.*2748C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906355	NM_000406.3(GNRHR):c.*2767T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 906354	NM_000406.3(GNRHR):c.*2772A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 905842	NM_000406.3(GNRHR):c.*3011T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904934	NM_000406.2(GNRHR):c.-1702A>G	GNRHR	Single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904933	NM_000406.2(GNRHR):c.-1701A>C	GNRHR	Single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904873	NM_000406.3(GNRHR):c.-8G>A	GNRHR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 904872	NM_000406.3(GNRHR):c.12T>G (p.Ser4Arg)	GNRHR (S4R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904871	NM_000406.3(GNRHR):c.215A>G (p.Lys72Arg)	GNRHR (K72R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904870	NM_000406.3(GNRHR):c.399G>A (p.Val133=)	GNRHR	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904808	NM_000406.3(GNRHR):c.*912C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904807	NM_000406.3(GNRHR):c.*928C>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904806	NM_000406.3(GNRHR):c.*1275G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904805	NM_000406.3(GNRHR):c.*1301A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904152	NM_000406.2(GNRHR):c.-1464G>A	GNRHR	Single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904151	NM_000406.2(GNRHR):c.-1251T>C	GNRHR	Single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904093	NM_000406.3(GNRHR):c.465C>T (p.Val155=)	GNRHR	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904092	NM_000406.3(GNRHR):c.576T>C (p.Val192=)	GNRHR	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904091	NM_000406.3(GNRHR):c.666C>T (p.Ile222=)	GNRHR (P180S)	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904090	NM_000406.3(GNRHR):c.*193A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904027	NM_000406.3(GNRHR):c.*1302G>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904026	NM_000406.3(GNRHR):c.*1532C>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904025	NM_000406.3(GNRHR):c.*1797A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 853003	NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)	SEMA3E (Y66H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 850659	NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)	SEMA3E (K370N +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 836561	NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)	SEMA3E (Y331F +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +3 more	GUncertain significance
Select item 836153	NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)	SEMA3E (M47K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 834958	NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)	SEMA3E (R290W +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 810119	NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)	SEMA3E (T604M +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GUncertain significance
Select item 801751	NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu)	HS6ST1 (D87E)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign/Likely benign
Select item 801750	NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His)	HS6ST1 (R371H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign/Likely benign
Select item 788513	NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys)	CCDC141 (Y556C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign/Likely benign
Select item 785827	NM_021913.5(AXL):c.1549G>A (p.Gly517Ser)	AXL (G508S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 785094	NM_000406.3(GNRHR):c.144C>G (p.Leu48=)	GNRHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 774291	NM_173648.4(CCDC141):c.1521A>C (p.Gln507His)	CCDC141 (Q507H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 773847	NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile)	CCDC141 (V1457I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely benign
Select item 770340	NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser)	HS6ST1 (R249S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 729275	NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln)	GNRHR (R240Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 705462	NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg)	SEMA3E (G392R +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely benign
Select item 701713	NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)	SEMA3E (F186L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GBenign/Likely benign
Select item 700561	NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 699658	NM_012431.3(SEMA3E):c.1366+10C>T	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 699649	NM_012431.3(SEMA3E):c.1144-7T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign

<< First< Prev

Page of 3