ClinVar for MedGen (Select 766935) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16322921.	NM_006080.3(SEMA3A):c.1302_1303inv (p.Val435Ile) GRCh37: Chr7:83634712-83634713 GRCh38: Chr7:84005396-84005397	SEMA3A	V435I	not provided, Hypogonadotropic hypogonadism 16 with or without anosmia	Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13258802.	NM_006080.3(SEMA3A):c.1850G>A (p.Arg617Gln) GRCh37: Chr7:83592531 GRCh38: Chr7:83963215	SEMA3A	R617Q	Hypogonadotropic hypogonadism 16 with or without anosmia	risk factor (Nov 22, 2021)	no assertion criteria provided
Select item 13258793.	NM_006080.3(SEMA3A):c.1372G>A (p.Val458Ile) GRCh37: Chr7:83631351 GRCh38: Chr7:84002035	SEMA3A	V458I	Hypogonadotropic hypogonadism 16 with or without anosmia	risk factor (Nov 22, 2021)	no assertion criteria provided
Select item 13258784.	NM_006080.3(SEMA3A):c.590G>A (p.Arg197Gln) GRCh37: Chr7:83675717 GRCh38: Chr7:84046401	SEMA3A	R197Q	Hypogonadotropic hypogonadism 16 with or without anosmia	risk factor (Nov 22, 2021)	no assertion criteria provided
Select item 7681755.	NM_006080.3(SEMA3A):c.1000A>G (p.Ile334Val) GRCh37: Chr7:83636809 GRCh38: Chr7:84007493	SEMA3A	I334V	Hypogonadotropic hypogonadism 16 with or without anosmia, not provided	Benign/Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6256336.	GRCh37/hg19 7q21.11(chr7:83664877-83740076) GRCh37: Chr7:83664877-83740076	SEMA3A		Hypogonadotropic hypogonadism 16 with or without anosmia	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 688367.	NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) GRCh37: Chr7:83689870 GRCh38: Chr7:84060554	SEMA3A	N153S	not provided, Hypogonadotropic hypogonadism 16 with or without anosmia	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 688358.	NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His) GRCh37: Chr7:83590805 GRCh38: Chr7:83961489	SEMA3A	R733H	SEMA3A-related condition, not provided, Hypogonadotropic hypogonadism 16 with or without anosmia	Uncertain significance (Jan 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 688339.	NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) GRCh37: Chr7:83590941 GRCh38: Chr7:83961625	SEMA3A	T688A	SEMA3A-related condition, not provided, Hypogonadotropic hypogonadism 16 with or without anosmia	Uncertain significance (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6883110.	NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) GRCh37: Chr7:83634817 GRCh38: Chr7:84005501	SEMA3A	I400V	Hypogonadotropic hypogonadism 16 with or without anosmia, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 3971711.	NM_006080.3(SEMA3A):c.1613_1626del (p.Asp538fs) GRCh37: Chr7:83610663-83610676 GRCh38: Chr7:83981347-83981360	SEMA3A	D538fs	Hypogonadotropic hypogonadism 16 with or without anosmia	risk factor (Aug 1, 2012)	no assertion criteria provided
Select item 3971612.	NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) GRCh37: Chr7:83634712 GRCh38: Chr7:84005396	SEMA3A	V435I	not specified, Hypogonadotropic hypogonadism 16 with or without anosmia, not provided	Benign/Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3971513.	NC_000007.14:g.(83833300_?)_(?_84046323)del GRCh38: Chr7:83833300-84046323	LOC129998733, LOC129998734, SEMA3A		Hypogonadotropic hypogonadism 16 with or without anosmia	risk factor (Aug 1, 2012)	no assertion criteria provided