List of variants reported as pathogenic for X-linked myopathy with excessive autophagy

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001017980.4(VMA21):c.13_104del	rs1556035617
NM_001017980.4(VMA21):c.*6A>G	rs878854355
NM_001017980.4(VMA21):c.163+4A>G	rs797044909
NM_001017980.4(VMA21):c.164-6T>G	rs878854356
NM_001017980.4(VMA21):c.164-7T>G	rs878854353
NM_001017980.4(VMA21):c.272G>C (p.Gly91Ala)	rs878854354
NM_001017980.4(VMA21):c.54-16_54-8del	rs878854357
NM_001017980.4(VMA21):c.54-27A>C	rs878854352
NM_001017980.4(VMA21):c.54-27A>T	rs878854352
NM_002137.4(HNRNPA2B1):c.996_997dup (p.Gly333fs)
NM_014365.3(HSPB8):c.508_509del (p.Gln170fs)

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