ClinVar for MedGen (Select 295872) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061872	NM_000216.4(ANOS1):c.1449+1G>T	ANOS1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 3013629	NM_000216.4(ANOS1):c.1511C>T (p.Pro504Leu)	ANOS1 (P504L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 2998375	NM_000216.4(ANOS1):c.1056G>A (p.Thr352=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 2980423	NM_000216.4(ANOS1):c.1307A>G (p.Tyr436Cys)	ANOS1 (Y436C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2973624	NM_000216.4(ANOS1):c.1112T>C (p.Val371Ala)	ANOS1 (V371A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2961579	NM_000216.4(ANOS1):c.1293C>T (p.Val431=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 2914431	NM_000216.4(ANOS1):c.1449+8C>A	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 2895967	NM_000216.4(ANOS1):c.1210G>A (p.Glu404Lys)	ANOS1 (E404K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2895435	NM_000216.4(ANOS1):c.397G>A (p.Asp133Asn)	ANOS1 (D133N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2885548	NM_000216.4(ANOS1):c.1208-20A>G	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 2857065	NM_000216.4(ANOS1):c.937A>G (p.Ile313Val)	ANOS1 (I313V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2856539	NM_000216.4(ANOS1):c.197del (p.Gln66fs)	ANOS1 (Q66fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2855554	NM_000216.4(ANOS1):c.1598C>T (p.Pro533Leu)	ANOS1 (P533L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2785978	NM_000216.4(ANOS1):c.520G>A (p.Val174Ile)	ANOS1 (V174I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2785854	NM_000216.4(ANOS1):c.1736A>G (p.Tyr579Cys)	ANOS1 (Y579C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2772796	NM_000216.4(ANOS1):c.739C>T (p.Arg247Ter)	ANOS1 (R247*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2767251	NM_000216.4(ANOS1):c.1355-1G>T	ANOS1	Single nucleotide variant (splice acceptor variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 2762605	NM_000216.4(ANOS1):c.1142del (p.Gly381fs)	ANOS1 (G381fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2712428	NM_000216.4(ANOS1):c.130G>A (p.Val44Ile)	ANOS1 (V44I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2701773	NM_000216.4(ANOS1):c.852del (p.Asp286fs)	ANOS1 (D286fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2659946	NM_000216.4(ANOS1):c.963G>A (p.Pro321=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia +1 more	GBenign/Likely benign
Select item 2659944	NM_000216.4(ANOS1):c.1698C>T (p.Thr566=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia +1 more	GBenign/Likely benign
Select item 2439132	NM_000216.4(ANOS1):c.1704C>A (p.His568Gln)	ANOS1 (H568Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2422591	NC_000023.10:g.(?_8501036)_(8700077_?)dup	ANOS1	Duplication	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2422590	NC_000023.10:g.(?_8501036)_(8700077_?)del	ANOS1	Deletion	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2195563	NM_000216.4(ANOS1):c.319-11C>A	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 2178103	NM_000216.4(ANOS1):c.1516C>T (p.Arg506Trp)	ANOS1 (R506W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2158762	NM_000216.4(ANOS1):c.1250A>G (p.Gln417Arg)	ANOS1 (Q417R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2129398	NM_000216.4(ANOS1):c.25G>A (p.Val9Ile)	ANOS1 (V9I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2111911	NM_000216.4(ANOS1):c.834_835del (p.Ser278fs)	ANOS1 (S278fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2068023	NM_000216.4(ANOS1):c.1134G>A (p.Thr378=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 2066557	NM_000216.4(ANOS1):c.1062+1G>C	ANOS1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2048031	NM_000216.4(ANOS1):c.319-20A>T	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 2038027	NM_000216.4(ANOS1):c.207+17G>T	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 2025220	NM_000216.4(ANOS1):c.207G>C (p.Gln69His)	ANOS1 (Q69H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2013574	NM_000216.4(ANOS1):c.1499_1500del (p.Val500fs)	ANOS1 (V500fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2012907	NM_000216.4(ANOS1):c.1699G>C (p.Gly567Arg)	ANOS1 (G567R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2006554	NM_000216.4(ANOS1):c.745del (p.Gln249fs)	ANOS1 (Q249fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 2002911	NM_000216.4(ANOS1):c.139G>T (p.Ala47Ser)	ANOS1 (A47S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 2000508	NM_000216.4(ANOS1):c.486A>C (p.Lys162Asn)	ANOS1 (K162N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1999854	NM_000216.4(ANOS1):c.1828del (p.Gln610fs)	ANOS1 (Q610fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1997138	NM_000216.4(ANOS1):c.726+13T>A	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 1979197	NM_000216.4(ANOS1):c.1852G>A (p.Val618Ile)	ANOS1 (V618I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1971035	NM_000216.4(ANOS1):c.1243C>A (p.Gln415Lys)	ANOS1 (Q415K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1924804	NM_000216.4(ANOS1):c.1743C>T (p.Pro581=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 1898762	NM_000216.4(ANOS1):c.1823A>T (p.Gln608Leu)	ANOS1 (Q608L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 1896885	NM_000216.4(ANOS1):c.1043G>A (p.Arg348Gln)	ANOS1 (R348Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1705413	NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del)	ANOS1	Deletion (inframe_deletion)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1695281	NM_000216.4(ANOS1):c.723C>A (p.Ala241=)	ANOS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1657381	NM_000216.4(ANOS1):c.1143A>T (p.Gly381=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 1608136	NM_000216.4(ANOS1):c.823A>G (p.Thr275Ala)	ANOS1 (T275A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 1593812	NM_000216.4(ANOS1):c.735C>T (p.Asp245=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 1550426	NM_000216.4(ANOS1):c.98G>C (p.Arg33Pro)	ANOS1 (R33P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 1519827	NM_000216.4(ANOS1):c.318+1G>C	ANOS1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 1465070	NM_000216.4(ANOS1):c.1311G>A (p.Gln437=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1463872	NM_000216.4(ANOS1):c.1826C>A (p.Ser609Tyr)	ANOS1 (S609Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1460215	NM_000216.4(ANOS1):c.1862dup (p.Pro622fs)	ANOS1 (P622fs)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1452668	NM_000216.4(ANOS1):c.1249C>T (p.Gln417Ter)	ANOS1 (Q417*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1451691	NM_000216.4(ANOS1):c.203del (p.Phe68fs)	ANOS1 (F68fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1439274	NM_000216.4(ANOS1):c.814C>T (p.Arg272Ter)	ANOS1 (R272*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1437964	NM_000216.4(ANOS1):c.586C>T (p.Gln196Ter)	ANOS1 (Q196*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1427038	NM_000216.4(ANOS1):c.857-10G>A	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1411906	NM_000216.4(ANOS1):c.318+3del	ANOS1	Deletion (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1408120	NM_000216.4(ANOS1):c.571C>T (p.Arg191Ter)	ANOS1 (R191*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1390065	NC_000023.10:g.(?_8501036)_(8591731_?)del	ANOS1	Deletion	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1387367	NM_000216.4(ANOS1):c.171_181del (p.Gln57fs)	ANOS1 (Q57fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1371635	NM_000216.4(ANOS1):c.874G>A (p.Ala292Thr)	ANOS1 (A292T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1356515	NM_000216.4(ANOS1):c.1756C>T (p.Gln586Ter)	ANOS1 (Q586*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1351117	NM_000216.4(ANOS1):c.1766G>A (p.Trp589Ter)	ANOS1 (W589*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1341676	NM_000216.4(ANOS1):c.1063-1G>C	ANOS1	Single nucleotide variant (splice acceptor variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 1341675	NM_000216.4(ANOS1):c.844del (p.Arg282fs)	ANOS1 (R282fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 1204552	NM_000216.4(ANOS1):c.1062+5G>A	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 1184534	NM_000216.4(ANOS1):c.67_92dup (p.Ala32fs)	ANOS1 (A32fs)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1092739	NM_000216.4(ANOS1):c.1908G>A (p.Val636=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 1069737	NM_000216.4(ANOS1):c.1890_1891delinsTT (p.Arg631Ter)	ANOS1 (R631*)	Indel (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1063327	NM_000216.4(ANOS1):c.2039A>G (p.Tyr680Cys)	ANOS1 (Y680C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1036587	NM_000216.4(ANOS1):c.1871T>G (p.Leu624Arg)	ANOS1 (L624R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1029720	NM_000216.4(ANOS1):c.337A>C (p.Ser113Arg)	ANOS1 (S113R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 1029719	NM_000216.4(ANOS1):c.1536G>A (p.Lys512=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GConflicting classifications of pathogenicity
Select item 1027379	NM_000216.4(ANOS1):c.774del (p.Trp258fs)	ANOS1 (W258fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 995129	NM_000216.4(ANOS1):c.515G>C (p.Cys172Ser)	ANOS1 (C172S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 975937	NM_000216.4(ANOS1):c.1539del (p.Glu514fs)	ANOS1 (E514fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 975878	NM_000216.4(ANOS1):c.171_174dup (p.Thr59fs)	ANOS1 (T59fs)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 831268	NC_000023.11:g.(?_8553932)_(8597276_?)dup	ANOS1	Duplication	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 731395	NM_000216.4(ANOS1):c.1932G>A (p.Pro644=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia +1 more	GLikely benign
Select item 705628	NM_000216.4(ANOS1):c.890G>A (p.Arg297Gln)	ANOS1 (R297Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 705404	NM_000216.4(ANOS1):c.1745T>C (p.Met582Thr)	ANOS1 (M582T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 705324	NM_000216.4(ANOS1):c.1782G>A (p.Thr594=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 705318	NM_000216.4(ANOS1):c.214G>A (p.Gly72Ser)	ANOS1 (G72S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 704325	NM_000216.4(ANOS1):c.1921G>A (p.Gly641Arg)	ANOS1 (G641R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 704319	NM_000216.4(ANOS1):c.911A>G (p.Asn304Ser)	ANOS1 (N304S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia +1 more	GBenign/Likely benign
Select item 704165	NM_000216.4(ANOS1):c.906C>T (p.Thr302=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign
Select item 704077	NM_000216.4(ANOS1):c.1381C>T (p.Arg461Trp)	ANOS1 (R461W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 703312	NM_000216.4(ANOS1):c.1419C>T (p.Thr473=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign/Likely benign
Select item 703045	NM_000216.4(ANOS1):c.1642C>T (p.Leu548=)	ANOS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 703012	NM_000216.4(ANOS1):c.76G>C (p.Gly26Arg)	ANOS1 (G26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 702837	NM_000216.4(ANOS1):c.264G>A (p.Glu88=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign/Likely benign
Select item 695249	NM_000216.4(ANOS1):c.618G>A (p.Ser206=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GBenign/Likely benign
Select item 692193	NM_000216.4(ANOS1):c.313del (p.Cys105fs)	ANOS1 (C105fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 692191	NM_000216.4(ANOS1):c.773G>A (p.Trp258Ter)	ANOS1 (W258*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic

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