C0410203[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579227	GRCh38/hg38 Xq28(chrX:150592508-150619237)x0	MTM1	Copy number loss	Severe X-linked myotubular myopathy	GPathogenic
Select item 2500866	NM_000252.3(MTM1):c.136+172T>C	MTM1	Single nucleotide variant (intron variant)	Severe X-linked myotubular myopathy	GUncertain significance
Select item 530855	NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)	MTM1 (E404K +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GConflicting classifications of pathogenicity

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