C0410203[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 158985	NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)	MTM1 (Y198fs +1 more)	Deletion (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 11059	NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)	MTM1 (R241C +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GPathogenic
Select item 1028156	NM_000252.3(MTM1):c.1133G>T (p.Gly378Val)	MTM1 (G341V +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
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 158914	NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	MTM1 (R421Q +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +3 more	GPathogenic
Select item 158920	NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)	MTM1 (W446* +1 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GPathogenic
Select item 2676859	NM_000252.3(MTM1):c.1468-2A>G	MTM1	Single nucleotide variant (splice acceptor variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 3239809	NM_000252.3(MTM1):c.1696G>T (p.Glu566Ter)	MTM1 (E529* +2 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 2676858	NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)	MTM1 (S556* +2 more)	Single nucleotide variant (nonsense)	Severe X-linked myotubular myopathy	GLikely pathogenic