ClinVar for MedGen (Select 766874) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25796861.	NM_004813.4(PEX16):c.952+3A>G GRCh37: Chr11:45932446 GRCh38: Chr11:45910895	PEX16		Peroxisome biogenesis disorder 8B	Uncertain significance	criteria provided, single submitter
Select item 25028712.	NM_004813.4(PEX16):c.679C>G (p.Arg227Gly) GRCh37: Chr11:45935882 GRCh38: Chr11:45914331	PEX16	R227G	Peroxisome biogenesis disorder 8B	Likely pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 9096343.	NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) GRCh37: Chr6:49403330 GRCh38: Chr6:49435617	MMUT	R655C	Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B, not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8026734.	NM_004813.4(PEX16):c.346G>A (p.Val116Ile) GRCh37: Chr11:45937267 GRCh38: Chr11:45915716	PEX16	V116I	Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5610755.	NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) GRCh37: Chr11:45935398 GRCh38: Chr11:45913847	PEX16	R287C	not provided, Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 5007556.	NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) GRCh37: Chr11:45936235 GRCh38: Chr11:45914684	PEX16	D154G	Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8A (Zellweger), PEX16-related condition, Inborn genetic diseases, Peroxisome biogenesis disorder, not provided	Uncertain significance (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4988367.	NM_004813.4(PEX16):c.262G>A (p.Val88Met) GRCh37: Chr11:45937351 GRCh38: Chr11:45915800	PEX16	V88M	Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B, not provided, Peroxisome biogenesis disorder	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 3047888.	NM_004813.4(PEX16):c.760G>C (p.Val254Leu) GRCh37: Chr11:45935689 GRCh38: Chr11:45914138	PEX16	V254L	not provided, Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3047859.	NM_004813.4(PEX16):c.*65T>C GRCh37: Chr11:45931740 GRCh38: Chr11:45910189	PEX16		Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B, not provided, Peroxisome biogenesis disorder 8A (Zellweger)	Likely benign (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 28280610.	NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) GRCh37: Chr11:45935380 GRCh38: Chr11:45913829	PEX16	R293C	Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8A (Zellweger), PEX16-related condition, Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger), not provided	Uncertain significance (Apr 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25954711.	NM_004813.4(PEX16):c.873T>C (p.Tyr291=) GRCh37: Chr11:45935384 GRCh38: Chr11:45913833	PEX16		not specified, Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25954612.	NM_004813.4(PEX16):c.542-16C>T GRCh37: Chr11:45936035 GRCh38: Chr11:45914484	PEX16		Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B, not provided, Peroxisome biogenesis disorder, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20918113.	NM_004813.4(PEX16):c.995_997del (p.Phe332del) GRCh37: Chr11:45931819-45931821 GRCh38: Chr11:45910268-45910270	PEX16	F332del	Peroxisome biogenesis disorder 8B	Likely pathogenic (Oct 19, 2012)	criteria provided, single submitter
Select item 19881414.	NM_004813.4(PEX16):c.695-6C>T GRCh37: Chr11:45935760 GRCh38: Chr11:45914209	PEX16		Inborn genetic diseases, Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B, not provided, Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder	Conflicting interpretations of pathogenicity (Oct 22, 2022)	criteria provided, conflicting interpretations
Select item 3035315.	NM_004813.4(PEX16):c.952+118_*82del GRCh37: Chr11:45931723-45932331 GRCh38: Chr11:45910172-45910780	PEX16		Peroxisome biogenesis disorder 8B	Pathogenic (Sep 1, 2010)	no assertion criteria provided
Select item 3035216.	NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys) GRCh37: Chr11:45931824 GRCh38: Chr11:45910273	PEX16	Y331C	Peroxisome biogenesis disorder 8B	Pathogenic (Sep 1, 2010)	no assertion criteria provided
Select item 3035117.	NM_004813.4(PEX16):c.984del (p.Ile330fs) GRCh37: Chr11:45931832 GRCh38: Chr11:45910281	PEX16	I330fs	Peroxisome biogenesis disorder 8B	Pathogenic (Sep 1, 2010)	no assertion criteria provided