ClinVar for Gene (Select 3730) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062544	GRCh37/hg19 Xp22.31(chrX:8430919-8695282)	ANOS1, VCX3B	Copy number gain	not specified	GUncertain significance
Select item 3062538	GRCh37/hg19 Xp22.31(chrX:8538007-8587270)	ANOS1	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062505	GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816)	WWC3, ANOS1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	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 3054078	NM_000216.4(ANOS1):c.585G>A (p.Leu195=)	ANOS1	Single nucleotide variant (synonymous variant)	ANOS1-related condition	GLikely benign
Select item 3042004	NM_000216.4(ANOS1):c.621A>G (p.Lys207=)	ANOS1	Single nucleotide variant (synonymous variant)	ANOS1-related condition	GLikely benign
Select item 3029730	NM_000216.4(ANOS1):c.318+10del	ANOS1	Deletion (intron variant)	ANOS1-related condition	GLikely benign
Select item 3029107	NM_000216.4(ANOS1):c.1109A>G (p.Tyr370Cys)	ANOS1 (Y370C)	Single nucleotide variant (missense variant)	ANOS1-related condition	GUncertain significance
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 2685730	GRCh37/hg19 Xp22.31(chrX:8135645-8525949)x2	VCX2, ANOS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685692	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x1	PNPLA4, PUDP +8 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685110	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x0	ANOS1, FAM9A +8 more	Copy number loss	not provided	GPathogenic
Select item 2684966	GRCh37/hg19 Xp22.31(chrX:8320564-8610413)x3	ANOS1, VCX3B	Copy number gain	not provided	GUncertain significance
Select item 2659947	NM_000216.4(ANOS1):c.699C>T (p.Asp233=)	ANOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2659945	NM_000216.4(ANOS1):c.1382G>A (p.Arg461Gln)	ANOS1 (R461Q)	Single nucleotide variant (missense variant)	not provided	GLikely 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 2630095	NM_000216.4(ANOS1):c.318+5G>A	ANOS1	Single nucleotide variant (intron variant)	ANOS1-related condition	GUncertain significance
Select item 2629928	NM_000216.4(ANOS1):c.484A>G (p.Lys162Glu)	ANOS1 (K162E)	Single nucleotide variant (missense variant)	ANOS1-related condition	GUncertain significance
Select item 2581551	NM_000216.4(ANOS1):c.1428G>T (p.Glu476Asp)	ANOS1 (E476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579377	NM_000216.4(ANOS1):c.1355-10G>A	ANOS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2554533	NM_000216.4(ANOS1):c.757A>G (p.Ile253Val)	ANOS1 (I253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526335	NM_000216.4(ANOS1):c.1407C>G (p.His469Gln)	ANOS1 (H469Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509475	NM_000216.4(ANOS1):c.1744A>G (p.Met582Val)	ANOS1 (M582V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2503147	NM_000216.4(ANOS1):c.488G>A (p.Cys163Tyr)	ANOS1 (C163Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2491590	NM_000216.4(ANOS1):c.85G>A (p.Ala29Thr)	ANOS1 (A29T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461187	NM_000216.4(ANOS1):c.1838C>T (p.Pro613Leu)	ANOS1 (P613L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2429405	NM_000216.4(ANOS1):c.77G>A (p.Gly26Asp)	ANOS1 (G26D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424250	NC_000023.10:g.(?_8501036)_(11318732_?)del	AMELX, ANOS1 +10 more	Deletion	not provided	GPathogenic
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 2310247	NM_000216.4(ANOS1):c.1567T>C (p.Cys523Arg)	ANOS1 (C523R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306981	NM_000216.4(ANOS1):c.79C>G (p.Pro27Ala)	ANOS1 (P27A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2280466	NM_000216.4(ANOS1):c.962C>T (p.Pro321Leu)	ANOS1 (P321L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239716	NM_000216.4(ANOS1):c.1795A>G (p.Asn599Asp)	ANOS1 (N599D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1809291	GRCh37/hg19 Xp22.31(chrX:6647161-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1808784	GRCh37/hg19 Xp22.31(chrX:8437306-8553558)x3	ANOS1	Copy number gain	not provided	GUncertain significance
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808630	GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	ANOS1, ARSD +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807764	GRCh37/hg19 Xp22.31(chrX:6658781-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1800512	NM_000216.4(ANOS1):c.490T>C (p.Cys164Arg)	ANOS1 (C164R)	Single nucleotide variant (missense variant)	not provided	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 1707829	NM_000216.4(ANOS1):c.469T>C (p.Cys157Arg)	ANOS1 (C157R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707443	GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1	ANOS1, ARSD +24 more	Copy number loss	See cases	GPathogenic
Select item 1706494	GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1	GYG2, ANOS1 +23 more	Copy number loss	See cases	GPathogenic
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 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1702636	NM_000216.4(ANOS1):c.494C>T (p.Ser165Leu)	ANOS1 (S165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700696	NM_000216.4(ANOS1):c.1767G>A (p.Trp589Ter)	ANOS1 (W589*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic

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