Related gene-specific medical variations for Gene (Select 4534) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359294	NM_000252.3(MTM1):c.402dup (p.Glu135Ter)	MTM1 (E135* +1 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 3243944	NC_000023.10:g.(?_149767036)_(149787632_?)del	MTM1	Deletion	Severe X-linked myotubular myopathy	GPathogenic
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 2690647	NM_000252.3(MTM1):c.971_972dup (p.Lys325Ter)	MTM1 (K288* +1 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2689453	NM_000252.3(MTM1):c.1729G>T (p.Ala577Ser)	MTM1 (A540S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689452	NM_000252.3(MTM1):c.110G>A (p.Arg37Gln)	MTM1 (R37Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689451	NM_000252.3(MTM1):c.1174A>T (p.Met392Leu)	MTM1 (M355L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689450	NM_000252.3(MTM1):c.413C>T (p.Thr138Met)	MTM1 (T101M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689449	NM_000252.3(MTM1):c.935A>G (p.His312Arg)	MTM1 (H275R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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
Select item 2671627	Single allele	MTM1	Deletion	not provided	GPathogenic
Select item 2506535	GRCh37/hg19 Xq28(chrX:149761077-149818374)	MTM1	Copy number loss	Severe X-linked myotubular myopathy	GPathogenic
Select item 2500781	NM_000252.2(MTM1):c.-76_-11del	LOC130068796, MTM1	Deletion (genic upstream transcript variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 1703406	NC_000023.11:g.150568509C>T	LOC130068796, MTM1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1691156	NM_000252.3(MTM1):c.-11+51C>T	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1319478	NM_000252.3(MTM1):c.581T>C (p.Leu194Pro)	MTM1 (L157P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 930670	NM_000252.3(MTM1):c.592T>C (p.Tyr198His)	MTM1 (Y161H +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy	GLikely pathogenic
Select item 547135	GRCh37/hg19 Xq28(chrX:149818189-149840068)x3	MTM1	Copy number gain	not provided	GUncertain significance
Select item 389855	NM_000252.3(MTM1):c.-24G>T	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 388221	NM_000252.3(MTM1):c.-48G>C	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 235767	NM_000252.3(MTM1):c.564TAA[1] (p.Asn189del)	MTM1 (N189del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 235566	NM_000252.3(MTM1):c.137-3T>G	MTM1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic

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Links from Gene

Items: 23