2488[geneid] - ClinVar

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

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 139460	NM_000510.2(FSHB):c.-280G>T	ARL14EP-DT, FSHB	Single nucleotide variant	Hypogonadotropic hypogonadism 24 without anosmia	Gassociation
Select item 304273	NM_001382289.1(FSHB):c.-66C>G	FSHB, ARL14EP-DT	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304274	NM_001382289.1(FSHB):c.-38+2T>C	FSHB, ARL14EP-DT	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 1220841	NM_001382289.1(FSHB):c.-37-224T>G	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271122	NM_001382289.1(FSHB):c.-37-95A>T	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 752051	NM_001382289.1(FSHB):c.6G>A (p.Lys2=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 304275	NM_001382289.1(FSHB):c.30C>G (p.Phe10Leu)	ARL14EP-DT, FSHB (F10L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304276	NM_001382289.1(FSHB):c.59G>T (p.Ser20Ile)	ARL14EP-DT, FSHB (S20I)	Single nucleotide variant (missense variant)	FSHB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2627786	NM_001382289.1(FSHB):c.83T>C (p.Ile28Thr)	ARL14EP-DT, FSHB (I28T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 2398825	NM_001382289.1(FSHB):c.107G>A (p.Arg36His)	ARL14EP-DT, FSHB (R36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756693	NM_001382289.1(FSHB):c.108T>C (p.Arg36=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733609	NM_001382289.1(FSHB):c.131C>G (p.Thr44Ser)	ARL14EP-DT, FSHB (T44S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1658041	NM_001382289.1(FSHB):c.147C>T (p.Tyr49=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1243392	NM_001382289.1(FSHB):c.159+33T>C	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1472097	NM_001382289.1(FSHB):c.184A>T (p.Arg62Trp)	ARL14EP-DT, FSHB (R62W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16241	NM_001382289.1(FSHB):c.205T>G (p.Cys69Gly)	ARL14EP-DT, FSHB (C69G)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GPathogenic
Select item 257061	NM_001382289.1(FSHB):c.228C>T (p.Tyr76=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 16240	NM_001382289.1(FSHB):c.236_237del (p.Val79fs)	ARL14EP-DT, FSHB (V79fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3006046	NM_001382289.1(FSHB):c.237G>A (p.Val79=)	FSHB, ARL14EP-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880520	NM_001382289.1(FSHB):c.245C>T (p.Pro82Leu)	ARL14EP-DT, FSHB (P82L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 16242	NM_001382289.1(FSHB):c.282C>A (p.Tyr94Ter)	ARL14EP-DT, FSHB (Y94*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 24 without anosmia	GPathogenic
Select item 2320825	NM_001382289.1(FSHB):c.287T>C (p.Val96Ala)	ARL14EP-DT, FSHB (V96A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 189329	NM_001382289.1(FSHB):c.298T>C (p.Cys100Arg)	ARL14EP-DT, FSHB (C100R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GPathogenic
Select item 880521	NM_001382289.1(FSHB):c.312G>A (p.Lys104=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2291173	NM_001382289.1(FSHB):c.322G>C (p.Asp108His)	ARL14EP-DT, FSHB (D108H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097191	NM_001382289.1(FSHB):c.326G>C (p.Ser109Thr)	ARL14EP-DT, FSHB (S109T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 304277	NM_001382289.1(FSHB):c.327C>A (p.Ser109Arg)	ARL14EP-DT, FSHB (S109R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia +1 more	GUncertain significance
Select item 3051652	NM_001382289.1(FSHB):c.333T>C (p.Asp111=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	FSHB-related condition	GLikely benign
Select item 1651082	NM_001382289.1(FSHB):c.342G>A (p.Val114=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 375419	NM_001382289.1(FSHB):c.343C>T (p.Arg115Ter)	ARL14EP-DT, FSHB (R115*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 24 without anosmia	GLikely pathogenic
Select item 880522	NM_001382289.1(FSHB):c.344G>A (p.Arg115Gln)	ARL14EP-DT, FSHB (R115Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304278	NM_001382289.1(FSHB):c.*212T>C	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304279	NM_001382289.1(FSHB):c.*303C>A	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304280	NM_001382289.1(FSHB):c.*476A>G	FSHB, ARL14EP-DT	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GBenign
Select item 304281	NM_001382289.1(FSHB):c.*520C>G	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GBenign
Select item 304282	NM_001382289.1(FSHB):c.*551G>A	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 877745	NM_001382289.1(FSHB):c.*610C>T	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304283	NM_001382289.1(FSHB):c.*635A>G	FSHB, ARL14EP-DT	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GBenign
Select item 304284	NM_001382289.1(FSHB):c.*663G>C	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 878778	NM_001382289.1(FSHB):c.*841C>A	FSHB, ARL14EP-DT	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304285	NM_001382289.1(FSHB):c.*872C>T	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304286	NM_001382289.1(FSHB):c.*898T>C	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 304287	NM_001382289.1(FSHB):c.*948T>G	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GLikely benign
Select item 304288	NM_001382289.1(FSHB):c.*1009G>A	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 878779	NM_001382289.1(FSHB):c.*1337G>A	ARL14EP-DT, FSHB	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 878780	NM_000510.3(FSHB):c.*1430T>C	ARL14EP-DT, FSHB	Single nucleotide variant	Hypogonadotropic hypogonadism 24 without anosmia	GUncertain significance
Select item 2427580	NC_000011.9:g.(?_30253450)_(32460464_?)del	ARL14EP, DCDC1 +9 more	Deletion	not provided	GUncertain significance
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 1341155	GRCh37/hg19 11p14.1(chr11:30217502-30293769)x1	FSHB	Copy number loss	not provided	GLikely benign
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979925	GRCh37/hg19 11p14.1(chr11:30216157-30276703)x1	FSHB	Copy number loss	not provided	GLikely benign
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 685976	GRCh37/hg19 11p14.1(chr11:30217030-30276703)x1	FSHB	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 376753	GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1	MPPED2, KCNA4 +12 more	Copy number loss	11p partial monosomy syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 69