ClinVar for MedGen (Select 1648421) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18050531.	NM_004462.5(FDFT1):c.100-101G>A GRCh37: Chr8:11666202 GRCh38: Chr8:11808693	FDFT1	W59*	Squalene synthase deficiency	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 13016112.	NM_004462.5(FDFT1):c.100-84TCCCAC[11] GRCh37: Chr8:11666218-11666219 GRCh38: Chr8:11808709-11808710	FDFT1		Squalene synthase deficiency	Uncertain significance (Mar 19, 2020)	criteria provided, single submitter
Select item 12852673.	NM_004462.5(FDFT1):c.1033-25T>C GRCh37: Chr8:11695872 GRCh38: Chr8:11838363	FDFT1		Squalene synthase deficiency	Benign (Aug 10, 2021)	criteria provided, single submitter
Select item 12852664.	NM_004462.5(FDFT1):c.972G>C (p.Leu324=) GRCh37: Chr8:11689119 GRCh38: Chr8:11831610	FDFT1		Squalene synthase deficiency	Benign (Aug 10, 2021)	criteria provided, single submitter
Select item 12852655.	NM_004462.5(FDFT1):c.631T>C (p.Leu211=) GRCh37: Chr8:11683653 GRCh38: Chr8:11826144	FDFT1		Squalene synthase deficiency	Benign (Aug 10, 2021)	criteria provided, single submitter
Select item 12852646.	NM_004462.5(FDFT1):c.134A>G (p.Lys45Arg) GRCh37: Chr8:11666337 GRCh38: Chr8:11808828	FDFT1	K104R, K45R	Squalene synthase deficiency	Benign (Aug 10, 2021)	criteria provided, single submitter
Select item 12764917.	NM_004462.5(FDFT1):c.879+9G>C GRCh37: Chr8:11687938 GRCh38: Chr8:11830429	FDFT1		Squalene synthase deficiency, not provided	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10287648.	NM_004462.5(FDFT1):c.670C>G (p.Gln224Glu) GRCh37: Chr8:11683692 GRCh38: Chr8:11826183	FDFT1	Q57E, Q139E, Q160E, Q224E, Q283E	Squalene synthase deficiency	Uncertain significance (Jul 20, 2020)	criteria provided, single submitter
Select item 10287639.	NM_004462.5(FDFT1):c.19C>A (p.Leu7Ile) GRCh37: Chr8:11660360 GRCh38: Chr8:11802851	FDFT1	P2H, L7I	Squalene synthase deficiency	Uncertain significance (Jul 20, 2020)	criteria provided, single submitter
Select item 99689810.	NM_004462.5(FDFT1):c.899T>A (p.Leu300Ter) GRCh37: Chr8:11689046 GRCh38: Chr8:11831537	FDFT1	L133, L215, L236, L300, L359*	Squalene synthase deficiency	Likely pathogenic (Oct 23, 2019)	criteria provided, single submitter
Select item 59935311.	NC_000008.10:g.11667760_11787743del119984 GRCh37: Chr8:11667760-11787743 GRCh38: Chr8:11810251-11930234	CTSB, FDFT1, LOC116186920, LOC116186921, LOC121268921		Squalene synthase deficiency	Likely pathogenic (May 29, 2018)	criteria provided, single submitter
Select item 58736212.	NM_001287742.2(FDFT1):c.-75+131_-75+146del GRCh37: Chr8:11660095-11660110 GRCh38: Chr8:11802586-11802601	FDFT1		Squalene synthase deficiency	Likely pathogenic (May 29, 2018)	criteria provided, single submitter
Select item 58736113.	NM_004462.5(FDFT1):c.880-24_880-23delinsAG GRCh37: Chr8:11689003-11689004 GRCh38: Chr8:11831494-11831495	FDFT1		Squalene synthase deficiency	Likely pathogenic (May 29, 2018)	criteria provided, single submitter
Select item 58736014.	NC_000008.10:g.11667760_11787743del GRCh37: Chr8:11667760-11787743	CTSB, FDFT1		Squalene synthase deficiency	Pathogenic (Oct 25, 2018)	no assertion criteria provided