"MTM1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285094	NM_000252.3(MTM1):c.339T>C (p.Cys113=)	MTM1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3052675	NM_000252.3(MTM1):c.490_493dup (p.Thr165fs)	MTM1 (T128fs +1 more)	Microsatellite (frameshift variant)	MTM1-related disorder	GPathogenic
Select item 385140	NM_000252.3(MTM1):c.582C>T (p.Leu194=)	MTM1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2631415	NM_000252.3(MTM1):c.1094C>T (p.Ser365Phe)	MTM1 (S328F +1 more)	Single nucleotide variant (missense variant)	MTM1-related disorder	GUncertain significance
Select item 2632572	NM_000252.3(MTM1):c.1580G>A (p.Ser527Asn)	MTM1 (S490N +1 more)	Single nucleotide variant (missense variant)	MTM1-related disorder	GUncertain significance
Select item 705101	NM_000252.3(MTM1):c.1793A>G (p.His598Arg)	MTM1 (H598R +2 more)	Single nucleotide variant (missense variant)	MTM1-related disorder +2 more	GConflicting classifications of pathogenicity

ClinVar