ClinVar for MedGen (Select 934789) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12994781.	NM_025207.5(FLAD1):c.1610G>C (p.Cys537Ser) GRCh37: Chr1:154965244 GRCh38: Chr1:154992768	FLAD1	C440S, C537S	not provided, Myopathy with abnormal lipid metabolism	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12111052.	NM_025207.5(FLAD1):c.683G>A (p.Arg228His) GRCh37: Chr1:154960891 GRCh38: Chr1:154988415	FLAD1	R129H, R131H, R228H	Myopathy with abnormal lipid metabolism, not provided	Conflicting interpretations of pathogenicity (Aug 30, 2022)	criteria provided, conflicting interpretations
Select item 11845383.	NM_025207.5(FLAD1):c.797del (p.Glu266fs) GRCh37: Chr1:154961005 GRCh38: Chr1:154988529	FLAD1	E167fs, E169fs, E266fs	Myopathy with abnormal lipid metabolism	Pathogenic	no assertion criteria provided
Select item 3825904.	NM_025207.5(FLAD1):c.729C>T (p.Phe243=) GRCh37: Chr1:154960937 GRCh38: Chr1:154988461	FLAD1		Myopathy with abnormal lipid metabolism, not provided	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3730375.	NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter) GRCh37: Chr1:154960616 GRCh38: Chr1:154988140	FLAD1	C136, C37, C39*	not provided	Pathogenic (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2247326.	NM_025207.5(FLAD1):c.401_404del (p.Phe134fs) GRCh37: Chr1:154960605-154960608 GRCh38: Chr1:154988129-154988132	FLAD1	F35fs, F134fs, F37fs	Myopathy with abnormal lipid metabolism, Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Mar 14, 2016)	criteria provided, multiple submitters, no conflicts
Select item 2247317.	NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs) GRCh37: Chr1:154960734-154960745 GRCh38: Chr1:154988258-154988269	FLAD1	A176fs, A79fs, A77fs	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Mar 14, 2016)	criteria provided, single submitter
Select item 2247308.	NM_025207.5(FLAD1):c.836del (p.Phe279fs) GRCh37: Chr1:154961043 GRCh38: Chr1:154988567	FLAD1	F180fs, F182fs, F279fs	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Mar 14, 2016)	criteria provided, single submitter
Select item 2247299.	NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) GRCh37: Chr1:154965222 GRCh38: Chr1:154992746	FLAD1	R530C, R433C	Multiple acyl-CoA dehydrogenase deficiency, not provided	Pathogenic (Sep 8, 2017)	criteria provided, multiple submitters, no conflicts
Select item 22472810.	NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) GRCh37: Chr1:154960775-154960776 GRCh38: Chr1:154988299-154988300	FLAD1	V191fs, V92fs, V94fs	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Mar 14, 2016)	criteria provided, single submitter
Select item 22472711.	NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del) GRCh37: Chr1:154962932-154962934 GRCh38: Chr1:154990456-154990458	FLAD1	S495del, S398del	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Mar 14, 2016)	criteria provided, single submitter