ClinVar for MedGen (Select 310844) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2541421.	NM_001162529.3(FAM135A):c.474C>G (p.Tyr158Ter) GRCh37: Chr6:71186967 GRCh38: Chr6:70477264	FAM135A	Y158, Y125, Y72, Y115	Histiocytoid cardiomyopathy	Likely benign	no assertion criteria provided
Select item 1903022.	NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) GRCh37: ChrX:47002089 GRCh38: ChrX:47142690	NDUFB11	R88*	Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 3, Mitochondrial complex I deficiency, nuclear type 1, not provided	Pathogenic (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 96843.	m.15498G>A GRCh37: ChrMT:15498 GRCh38: ChrMT:15498	MT-CYB		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 96404.	m.8528T>C GRCh37: ChrMT:8528 GRCh38: ChrMT:8528	MT-ATP6, MT-ATP8		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database

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