Total 11 pathogenic variants reported for X-linked myopathy with excessive autophagy

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001017980.4(VMA21):c.163+4A>G	SNV Germline	ChrX:151403744	Pathogenic	X-linked myopathy with excessive autophagy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA204757	rs_797044909	3 SubmittersRCV000190828 RCV000190737
NM_001017980.4(VMA21):c.54-27A>T	SNV Germline	ChrX:151403604	Pathogenic	X-linked myopathy with excessive autophagy	No Assertion Criteria Provided	CA10575762	rs_878854352	1 SubmittersRCV000190827
NM_001017980.4(VMA21):c.164-7T>G	SNV Germline	ChrX:151404909	Pathogenic	X-linked myopathy with excessive autophagy	Criteria Provided Single Submitter	CA10575763	rs_878854353	2 SubmittersRCV000190829
NM_001017980.4(VMA21):c.272G>C (p.Gly91Ala)	SNV Germline	ChrX:151405024	Likely pathogenic	X-linked myopathy with excessive autophagy	Criteria Provided Single Submitter	CA10575764	rs_878854354	2 SubmittersRCV000190830
NM_001017980.4(VMA21):c.*6A>G	SNV Germline	ChrX:151405064	Pathogenic	X-linked myopathy with excessive autophagy	Criteria Provided Single Submitter	CA10575765	rs_878854355	2 SubmittersRCV000190831
NM_001017980.4(VMA21):c.164-6T>G	SNV Germline	ChrX:151404910	Pathogenic	X-linked myopathy with excessive autophagy	No Assertion Criteria Provided	CA10575766	rs_878854356	1 SubmittersRCV000190832
NM_001017980.4(VMA21):c.15T>G (p.Asp5Glu)	SNV Germline	ChrX:151397323	Conflicting classifications of pathogenicity	not specified X-linked myopathy with excessive autophagy Inborn genetic diseases VMA21-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10540534	rs_765120199	5 SubmittersRCV000442228 RCV000877551 RCV002525338 RCV003902522 RCV003430988
NM_001017980.4(VMA21):c.76A>G (p.Thr26Ala)	SNV Germline	ChrX:151403653	Conflicting classifications of pathogenicity	X-linked myopathy with excessive autophagy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10540551	rs_143565725	2 SubmittersRCV002102993 RCV004045798
NM_001017980.4(VMA21):c.11C>T (p.Pro4Leu)	SNV Germline	ChrX:151397319	Conflicting classifications of pathogenicity	X-linked myopathy with excessive autophagy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415270761	rs_1465930949	2 SubmittersRCV003741651 RCV005515583