C0410203[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301887	NM_000252.3(MTM1):c.63+1G>T	MTM1	Single nucleotide variant (splice donor variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 11057	NM_000252.3(MTM1):c.141_144del	MTM1	Deletion	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 211532	NM_000252.3(MTM1):c.342_342+4del	MTM1	Deletion (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 158987	NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	MTM1 (P205L +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 11058	NM_000252.3(MTM1):c.1261-10A>G	MTM1	Single nucleotide variant (intron variant)	Centronuclear myopathy +2 more	GPathogenic/Likely pathogenic
Select item 158913	NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)	MTM1 (R421* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +3 more	GPathogenic
Select item 211528	NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)	MTM1 (P436del +1 more)	Deletion (inframe_deletion)	Severe X-linked myotubular myopathy	GPathogenic

ClinVar