Total 2 pathogenic variants reported for Multiple mitochondrial dysfunctions syndrome 5

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)	SNV Germline	Chr9:86266174	Conflicting classifications of pathogenicity	Fatal multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome 5	Criteria Provided Conflicting Classifications	CA5108230	rs_776679653	4 SubmittersRCV000508655 RCV000497255
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly)	SNV Germline	Chr9:86282430	Pathogenic	Multiple mitochondrial dysfunctions syndrome 5	No Assertion Criteria Provided		rs_1587823007	2 SubmittersRCV000857321