"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MTM1"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661634	NM_000252.3(MTM1):c.231+2771A>G	MTM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 211534	NM_000252.3(MTM1):c.422C>T (p.Ala141Val)	MTM1 (A141V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2499156	NM_000252.3(MTM1):c.509_528dup (p.Gly177fs)	MTM1 (G140fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 547099	NM_000252.3(MTM1):c.700G>C (p.Glu234Gln)	MTM1 (E234Q +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GConflicting classifications of pathogenicity
Select item 3027044	NM_000252.3(MTM1):c.785A>C (p.Asp262Ala)	MTM1 (D225A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159012	NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)	MTM1	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1166175	NM_000252.3(MTM1):c.1080A>G (p.Val360=)	MTM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2175324	NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)	MTM1 (T492I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 547135	GRCh37/hg19 Xq28(chrX:149818189-149840068)x3	MTM1	Copy number gain	not provided	GUncertain significance