ClinVar for MedGen (Select 295872) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3598492	NM_000216.4(ANOS1):c.16C>T (p.Pro6Ser)	ANOS1 (P6S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598491	NM_000216.4(ANOS1):c.46C>T (p.Leu16=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598490	NM_000216.4(ANOS1):c.83G>A (p.Gly28Asp)	ANOS1 (G28D)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 3598489	NM_000216.4(ANOS1):c.92C>T (p.Ala31Val)	ANOS1 (A31V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598488	NM_000216.4(ANOS1):c.109G>A (p.Glu37Lys)	ANOS1 (E37K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598487	NM_000216.4(ANOS1):c.125G>A (p.Gly42Glu)	ANOS1 (G42E)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598486	NM_000216.4(ANOS1):c.136C>A (p.Arg46Ser)	ANOS1 (R46S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598485	NM_000216.4(ANOS1):c.148G>A (p.Ala50Thr)	ANOS1 (A50T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598484	NM_000216.4(ANOS1):c.164G>A (p.Ser55Asn)	ANOS1 (S55N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598483	NM_000216.4(ANOS1):c.298C>A (p.Gln100Lys)	ANOS1 (Q100K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598482	NM_000216.4(ANOS1):c.372A>G (p.Lys124=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598481	NM_000216.4(ANOS1):c.379C>T (p.Leu127=)	ANOS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598480	NM_000216.4(ANOS1):c.431C>T (p.Ala144Val)	ANOS1 (A144V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598479	NM_000216.4(ANOS1):c.545T>A (p.Val182Asp)	ANOS1 (V182D)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598478	NM_000216.4(ANOS1):c.571C>G (p.Arg191Gly)	ANOS1 (R191G)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598477	NM_000216.4(ANOS1):c.626A>G (p.Asn209Ser)	ANOS1 (N209S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598476	NM_000216.4(ANOS1):c.655G>A (p.Val219Ile)	ANOS1 (V219I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598475	NM_000216.4(ANOS1):c.690C>G (p.Ser230Arg)	ANOS1 (S230R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598474	NM_000216.4(ANOS1):c.755A>T (p.Asp252Val)	ANOS1 (D252V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598473	NM_000216.4(ANOS1):c.785G>A (p.Arg262Gln)	ANOS1 (R262Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598472	NM_000216.4(ANOS1):c.850T>C (p.Ser284Pro)	ANOS1 (S284P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598471	NM_000216.4(ANOS1):c.857-10G>T	ANOS1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598470	NM_000216.4(ANOS1):c.878C>T (p.Pro293Leu)	ANOS1 (P293L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598469	NM_000216.4(ANOS1):c.938T>C (p.Ile313Thr)	ANOS1 (I313T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598468	NM_000216.4(ANOS1):c.982T>C (p.Tyr328His)	ANOS1 (Y328H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598467	NM_000216.4(ANOS1):c.996G>C (p.Trp332Cys)	ANOS1 (W332C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 3598466	NM_000216.4(ANOS1):c.1100A>G (p.Asp367Gly)	ANOS1 (D367G)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598465	NM_000216.4(ANOS1):c.1150C>T (p.Arg384Trp)	ANOS1 (R384W)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598464	NM_000216.4(ANOS1):c.1354G>A (p.Asp452Asn)	ANOS1 (D452N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598462	NM_000216.4(ANOS1):c.1370G>A (p.Arg457Gln)	ANOS1 (R457Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598461	NM_000216.4(ANOS1):c.1505T>C (p.Val502Ala)	ANOS1 (V502A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598460	NM_000216.4(ANOS1):c.1868A>G (p.Asn623Ser)	ANOS1 (N623S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely benign
Select item 3598458	NM_000216.4(ANOS1):c.1921G>C (p.Gly641Arg)	ANOS1 (G641R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3598457	NM_000216.4(ANOS1):c.2020A>G (p.Lys674Glu)	ANOS1 (K674E)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3401335	NM_000216.4(ANOS1):c.1345A>C (p.Lys449Gln)	ANOS1 (K449Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 1 with or without anosmia +1 more	GUncertain significance
Select item 3382641	NM_000216.4(ANOS1):c.1843-1G>C	ANOS1	Single nucleotide variant (splice acceptor variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 3377308	NM_000216.4(ANOS1):c.1777_1778dup (p.Thr594fs)	ANOS1 (T594fs)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 3339001	NM_000216.4(ANOS1):c.1137C>G (p.Tyr379Ter)	ANOS1 (Y379*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 3256568	NM_000216.4(ANOS1):c.1948delinsCG (p.Phe650fs)	ANOS1 (F650fs)	Indel (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 3244194	NC_000023.10:g.(?_8501036)_(8522159_?)dup	ANOS1	Duplication	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3244183	NC_000023.10:g.(?_8565055)_(8591731_?)dup	ANOS1	Duplication	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 3244172	NC_000023.10:g.(?_8538520)_(8700077_?)dup	ANOS1	Duplication	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3244161	NC_000023.10:g.(?_8667719)_(8700077_?)dup	ANOS1	Duplication	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 3244150	NC_000023.10:g.(?_8501036)_(8565317_?)del	ANOS1	Deletion	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
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)	not provided +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 +2 more	GBenign/Likely benign
Select item 2509475	NM_000216.4(ANOS1):c.1744A>G (p.Met582Val)	ANOS1 (M582V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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)	not provided +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 +1 more	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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1896885	NM_000216.4(ANOS1):c.1043G>A (p.Arg348Gln)	ANOS1 (R348Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 +1 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

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