ClinVar for MedGen (Select 1800504) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26378501.	NM_001379210.1(SLC25A26):c.191-1G>T GRCh37: Chr3:66293626 GRCh38: Chr3:66243202	SLC25A26		Combined oxidative phosphorylation deficiency 28	Likely pathogenic (Oct 20, 2023)	criteria provided, single submitter
Select item 17035192.	NM_001379210.1(SLC25A26):c.554G>A (p.Cys185Tyr) GRCh37: Chr3:66413339 GRCh38: Chr3:66362915	SLC25A26	C170Y, C185Y, C82Y, C97Y	Combined oxidative phosphorylation deficiency 28	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 17035153.	NM_001379210.1(SLC25A26):c.719G>T (p.Gly240Val) GRCh37: Chr3:66428125 GRCh38: Chr3:66377701	SLC25A26	G137V, G152V, G225V, G240V	Combined oxidative phosphorylation deficiency 28	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 12884274.	NM_001379210.1(SLC25A26):c.*3C>A GRCh37: Chr3:66428234 GRCh38: Chr3:66377810	SLC25A26		Combined oxidative phosphorylation deficiency 28, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6839365.	NM_001379210.1(SLC25A26):c.623C>T (p.Thr208Met) GRCh37: Chr3:66419956 GRCh38: Chr3:66369532	SLC25A26	T120M, T208M	not provided, Combined oxidative phosphorylation deficiency 28	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6839066.	NM_001379210.1(SLC25A26):c.498+13G>A GRCh37: Chr3:66396845 GRCh38: Chr3:66346421	SLC25A26		Combined oxidative phosphorylation deficiency 28, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6838837.	NM_001379210.1(SLC25A26):c.122G>A (p.Ser41Asn) GRCh37: Chr3:66287056 GRCh38: Chr3:66236632	SLC25A26	S41N	Combined oxidative phosphorylation deficiency 28, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2220098.	NM_001379210.1(SLC25A26):c.33+1G>A GRCh37: Chr3:66271554 GRCh38: Chr3:66221128	SLC25A26		Combined oxidative phosphorylation deficiency 28, not provided	Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2220089.	NM_001379210.1(SLC25A26):c.596C>T (p.Pro199Leu) GRCh37: Chr3:66419929 GRCh38: Chr3:66369505	SLC25A26	P199L, P111L	Combined oxidative phosphorylation deficiency 28	Pathogenic (Feb 11, 2016)	no assertion criteria provided
Select item 22200710.	NM_001379210.1(SLC25A26):c.305C>T (p.Ala102Val) GRCh37: Chr3:66312479 GRCh38: Chr3:66262055	SLC25A26	A102V, A14V	Combined oxidative phosphorylation deficiency 28	Pathogenic (Oct 20, 2017)	no assertion criteria provided
Select item 22200611.	NM_001379210.1(SLC25A26):c.443T>G (p.Val148Gly) GRCh37: Chr3:66313793 GRCh38: Chr3:66263369	SLC25A26	V148G, V60G	Combined oxidative phosphorylation deficiency 28	Pathogenic (Oct 20, 2017)	no assertion criteria provided