ClinVar for MedGen (Select 1711853) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12743721.	NM_004564.3(GATB):c.176+7T>C GRCh37: Chr4:152681952 GRCh38: Chr4:151760800	GATB, LOC129993225		not provided, Combined oxidative phosphorylation deficiency 41	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12523032.	NM_004564.3(GATB):c.1198-6del GRCh37: Chr4:152609921 GRCh38: Chr4:151688769	GATB		not provided, Combined oxidative phosphorylation deficiency 41	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11202093.	NM_004564.3(GATB):c.1546-5_1546-3del GRCh37: Chr4:152592457-152592459 GRCh38: Chr4:151671305-151671307	GATB		Combined oxidative phosphorylation deficiency 41	Uncertain significance	criteria provided, single submitter
Select item 11202084.	NM_004564.3(GATB):c.877+1G>A GRCh37: Chr4:152629139 GRCh38: Chr4:151707987	GATB		Combined oxidative phosphorylation deficiency 41	Uncertain significance	criteria provided, single submitter
Select item 5594125.	NM_004564.3(GATB):c.408T>G (p.Phe136Leu) GRCh37: Chr4:152640610 GRCh38: Chr4:151719458	GATB	F136L	Cardiomyopathy, mitochondrial	Pathogenic (May 13, 2018)	criteria provided, single submitter
Select item 5594116.	NM_004564.3(GATB):c.580_581del (p.Ser194fs) GRCh37: Chr4:152638087-152638088 GRCh38: Chr4:151716935-151716936	GATB	S194fs	Cardiomyopathy, mitochondrial	Pathogenic (May 13, 2018)	criteria provided, single submitter

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