Related gene-specific medical variations for Gene (Select 3730) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062538	GRCh37/hg19 Xp22.31(chrX:8538007-8587270)	ANOS1	Copy number gain	not specified	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 1808784	GRCh37/hg19 Xp22.31(chrX:8437306-8553558)x3	ANOS1	Copy number gain	not provided	GUncertain significance
Select item 1526753	GRCh37/hg19 Xp22.31(chrX:8458992-8639989)	ANOS1	Copy number gain	not specified	GUncertain significance
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 688439	GRCh37/hg19 Xp22.31(chrX:8684769-8718318)x3	ANOS1	Copy number gain	not provided	GUncertain significance
Select item 687941	GRCh37/hg19 Xp22.31(chrX:8588404-8695657)x2	ANOS1	Copy number gain	not provided	GUncertain significance
Select item 687597	GRCh37/hg19 Xp22.31(chrX:8588404-8603599)x0	ANOS1	Copy number loss	not provided	GUncertain significance
Select item 687177	GRCh37/hg19 Xp22.31(chrX:8588404-8710465)x3	ANOS1	Copy number gain	not provided	GUncertain significance
Select item 685704	GRCh37/hg19 Xp22.31(chrX:8588404-8695657)x2	ANOS1	Copy number gain	not provided	GUncertain significance
Select item 685044	GRCh37/hg19 Xp22.31(chrX:8588404-8695657)x2	ANOS1	Copy number gain	not provided	GUncertain significance
Select item 564776	GRCh37/hg19 Xp22.31(chrX:8588402-8702277)x3	ANOS1	Copy number gain	not provided	GUncertain significance
Select item 562252	NM_000216.4(ANOS1):c.397dup (p.Asp133fs)	ANOS1 (D133fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 560085	Single allele	ANOS1	Duplication	Hypogonadotropic hypogonadism 1 with or without anosmia	GUncertain significance
Select item 443957	GRCh37/hg19 Xp22.31(chrX:8595319-8702281)x4	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 394024	GRCh37/hg19 Xp22.31(chrX:8601505-8702970)x3	ANOS1	Copy number gain	See cases	GLikely benign
Select item 394023	GRCh37/hg19 Xp22.31(chrX:8601505-8702970)x2	ANOS1	Copy number gain	See cases	GLikely benign
Select item 253991	GRCh37/hg19 Xp22.31(chrX:8601505-8703029)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 155313	GRCh38/hg38 Xp22.31(chrX:8619710-8740650)x3	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 153191	GRCh38/hg38 Xp22.31(chrX:8627778-8734240)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 149228	GRCh38/hg38 Xp22.31(chrX:8625445-8737453)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 149073	GRCh38/hg38 Xp22.31(chrX:8629706-8736954)x3	ANOS1	Copy number gain	See cases	GLikely benign
Select item 149054	GRCh38/hg38 Xp22.31(chrX:8504456-8673782)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 148795	GRCh38/hg38 Xp22.31(chrX:8629706-8737453)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 148792	GRCh38/hg38 Xp22.31(chrX:8629706-8737453)x3	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 148556	GRCh38/hg38 Xp22.31(chrX:8629706-8736616)x3	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 146713	GRCh38/hg38 Xp22.31(chrX:8548406-8752717)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 146425	GRCh38/hg38 Xp22.31(chrX:8629706-8706315)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 145504	GRCh38/hg38 Xp22.31(chrX:8629775-8730225)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 144321	GRCh38/hg38 Xp22.31(chrX:8588208-8752717)x3	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 144128	GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x3	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 60264	GRCh38/hg38 Xp22.31(chrX:8695720-8700128)x3	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 58567	GRCh38/hg38 Xp22.31(chrX:8629706-8706315)x3	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 58566	GRCh38/hg38 Xp22.31(chrX:8628853-8737453)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 58565	GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x2	ANOS1	Copy number gain	See cases	GUncertain significance
Select item 10014	NG_007088.2:g.(37490_113516)_(151921_166482)del	ANOS1	Deletion	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 10012	NG_007088.2:g.(37490_113516)_(202869_204133)del	ANOS1	Deletion	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 10009	NM_000216.4(ANOS1):c.544_726+2del	ANOS1	Deletion (splice acceptor variant +1 more)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 10007	NG_007088.2:g.(37490_113516)_(149394_151790)del	ANOS1	Deletion	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic

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Links from Gene

Items: 45