Total 2 pathogenic variants reported for Menkes disease

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000052.7(ATP7A):c.4123+3A>T	SNV Germline	ChrX:78043437	Conflicting classifications of pathogenicity	Menkes disease, mild Menkes kinky-hair syndrome	No Assertion Criteria Provided		rs_2149112301	2 SubmittersRCV000012547 RCV003311656