Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA): description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change: description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method: The method used for the clinical classification of this variant.
All options:
- ACMG
- ACGS
- EAHAD-CFDB
- ENIGMA
- IARC
- InSiGHT
- kConFab
- other
Clinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
- pathogenic
- pathogenic (dominant)
- pathogenic (recessive)
- pathogenic (!)
- pathogenic (maternal)
- pathogenic (paternal)
- likely pathogenic
- likely pathogenic (dominant)
- likely pathogenic (recessive)
- likely pathogenic (!)
- likely pathogenic (maternal)
- likely pathogenic (paternal)
- VUS
- VUS (!)
- likely benign
- likely benign (dominant)
- likely benign (recessive)
- likely benign (!)
- likely benign (maternal)
- likely benign (paternal)
- benign
- benign (dominant)
- benign (recessive)
- benign (!)
- benign (maternal)
- benign (paternal)
- association
- unclassified
- NA
DNA change (genomic) (hg19): HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38): HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN: description of the variant according to ISCN nomenclature
DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID: ID of variant in ClinVar database
dbSNP ID: the dbSNP ID
Origin: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
- Germline
- De novo
- Germline/De novo (untested)
- Somatic
- Uniparental disomy
- Uniparental disomy, maternal allele
- Uniparental disomy, paternal allele
- CLASSIFICATION record
- SUMMARY record
- In vitro (cloned)
- In silico
- animal model
- Artefact
- DUPLICATE record
- Unknown
- Not applicable
Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
- ? = unknown
- yes = segregates with phenotype
- no = does not segregate with phenotype
- - = not applicable
Frequency: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)

 Effect
|

 Exon
|

 DNA change (cDNA)
|

 RNA change
|

 Protein
|

 Classification method
|

 Clinical classification
|

 DNA change (genomic) (hg19)
|

 DNA change (hg38)
|

 Published as
|

 ISCN
|

 DB-ID
|
 Variant remarks
|

 Reference
|

 ClinVar ID
|

 dbSNP ID
|

 Origin
|

 Segregation
|

 Frequency
|

 Re-site
|

 VIP
|

 Methylation
|

 Owner
|
-/. |
1 |
c.-164C>T |
r.(=) |
p.(=) |
- |
benign |
g.149736959C>T |
g.150568509C>T |
- |
- |
MTM1_000223 |
- |
PubMed: Laporte 1998 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_1i |
c.(?_-76)_(-11+1_-10-1)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149737113_149761066)del |
- |
- |
- |
MTM1_000001 |
DXS9929 detected |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_1i |
c.(?_-76)_(-11+1_-10-1)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149737113_149761066)del |
- |
Exon 1 deletion |
- |
MTM1_000001 |
- |
PubMed: Herman 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_1i |
c.(?_-76)_(-11+1_-10-1)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149737113_149761066)del |
- |
Exon 1 deletion |
- |
MTM1_000001 |
- |
PubMed: Herman 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_1i |
c.(?_-76)_(-11+1_-10-1)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149737113_149761066)del |
- |
Exon 1 deletion |
- |
MTM1_000001 |
- |
PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_1i |
c.(?_-76)_(-11+1_-10-1)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149737113_149761066)del |
- |
Exon 1 deletion |
- |
MTM1_000001 |
- |
PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_1i |
c.(?_-76)_(-11+1_-10-1)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149737113_149761066)del |
- |
Exon 1 deletion |
- |
MTM1_000001 |
DXS9929 not detected |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
_1_5i_ |
c.(?_-76)_(342+1_343-1)dup |
r.343_444del |
p.Asp115_Leu148del |
- |
pathogenic |
g.(?_149737047)_(149783173_149787510)dup |
- |
- |
- |
MTM1_000236 |
duplication of exons 1-5; de novo, in patient, somatic mosaicism |
- |
- |
- |
Somatic |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_7i |
c.(?_-76)_(528+1_529-1)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149807500_149809741)del |
- |
Exon 1-7 deletion |
- |
MTM1_000002 |
- |
PubMed: Herman 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_13i |
c.(?_-76)_(1467+1_1468-1)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149828958_149831905)del |
- |
Exon 1-13 deletion |
- |
MTM1_000244 |
(..)._(m22t_DXS1345)del |
PubMed: Hu 1996, PubMed: Laporte 1996, PubMed: Tosch 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/. |
_1_15_ |
c.(?_-76)_(*1548_?)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149841616_?)del |
- |
deletion all MTM1 |
- |
MTM1_000000 |
- |
PubMed: Hu 1996, PubMed: Laporte 1996; PubMed: Laporte 2000 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/. |
_1_15_ |
c.(?_-76)_(*1548_?)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149841616_?)del |
- |
- |
- |
MTM1_000000 |
240 Kb deletion (MTM1 absent, flanking genes CXorf6 and MTMR1 partially deleted) |
PubMed: Tsai 2005 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_15_ |
c.(?_-76)_(*1548_?)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149841616_?)del |
- |
deletion all MTM1 |
- |
MTM1_000000 |
- |
Bartsch et al., 1999; PubMed: Laporte 2000; PubMed: Tosch 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
_1_15_ |
c.(?_-76)_(*1548_?)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149841616_?)del |
- |
- |
- |
MTM1_000000 |
2.9 Mb deletion incl. AFF2_3'MTMR1; de novo, in patient |
L Medne ASHG 2010 A1669 |
- |
- |
De novo |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/. |
_1_15_ |
c.(?_-76)_(*1548_?)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149841616_?)del |
- |
heterozygous MTM1 deletion |
- |
MTM1_000000 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
_1_15_ |
c.(?_-76)_(*1548_?)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149841616_?)del |
- |
hemizygous MTM1 deletion |
- |
MTM1_000000 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
_1_15_ |
c.(?_-76)_(*1548_?)del |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149737047)_(149841616_?)del |
- |
deletion all MTM1 |
- |
MTM1_000000 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2 |
c.(?_-10)_63+?del |
r.(?) |
p.0? |
- |
pathogenic |
g.? |
- |
Exon 2 deletion |
- |
MTM1_000003 |
- |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2_6 |
c.(?_-10)_441+?del |
r.1-10_441del |
p.0? |
- |
pathogenic |
g.? |
- |
Exon 2-6 deletion |
- |
MTM1_000004 |
- |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2_8 |
c.(?_-10)_678+?del |
r.(?) |
p.0? |
- |
pathogenic |
g.? |
- |
Exon 2-8 deletion |
- |
MTM1_000005 |
- |
PubMed: Laporte 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
6i_15_ |
c.(444+1_445-1)_*1548{0} |
r.? |
p.? |
ACMG |
likely pathogenic (recessive) |
g.(149787613_149807415)_(149841616_?)del |
g.(150619140_150638942)_(150673143_?)del |
del ex7-15, hg19 g.149807405-149840078del |
- |
MTM1_000342 |
ACMG 2B, 2D |
PubMed: Natera-de Benito 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/. |
6i_15_ |
c.(444+1_445-1)_*1548{0} |
r.spl |
p.? |
- |
likely pathogenic |
g.(149787613_149807415)_(149841616_?)del |
g.(150619140_150638942)_(150673143_?)del |
c.(?_445)_(*1548_?)del |
- |
MTM1_000342 |
- |
PubMed: Gonzalez-Quereda 2020 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/. |
- |
c.(?_-10)_*1548{0} |
r.0? |
p.0? |
- |
pathogenic |
g.(?_149761067)_(149841616_?)del |
- |
- |
- |
MTM1_000339 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Dèlia Yubero |
+?/. |
_1_15_ |
c.-76_*1548{0} |
r.0 |
p.0 |
ACMG |
pathogenic (recessive) |
g.(?_149737047)_(149841616_?)del |
g.(?_150568597)_(150673143_?)del |
del ex1-15 |
- |
MTM1_000000 |
ACMG 2A, 4L |
PubMed: Natera-de Benito 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/. |
2 |
c.1A>G |
r.(?) |
p.0? |
- |
pathogenic |
g.149761077A>G |
g.150592615A>G |
p.Met1? |
- |
MTM1_000006 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2 |
c.2T>A |
r.(?) |
p.0? |
- |
pathogenic |
g.149761078T>A |
g.150592616T>A |
p.Met1? |
- |
MTM1_000253 |
de novo, in mother |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
2 |
c.2T>G |
r.(?) |
p.0? |
- |
pathogenic |
g.149761078T>G |
g.150592616T>G |
p.Met1? |
- |
MTM1_000007 |
- |
PubMed: Herman 1999, PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2 |
c.19del |
r.(?) |
p.(Ser7Leufs*37) |
- |
pathogenic |
g.149761095del |
g.150592633del |
19delT |
- |
MTM1_000284 |
- |
from website {DBsub-Emory} |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Madhuri Hegde |
+/. |
2 |
c.27T>A |
r.(?) |
p.(Tyr9*) |
- |
pathogenic |
g.149761103T>A |
g.150592641T>A |
- |
- |
MTM1_000008 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
-?/. |
- |
c.27T>C |
r.(?) |
p.(Tyr9=) |
- |
likely benign |
g.149761103T>C |
g.150592641T>C |
MTM1(NM_000252.2):c.27T>C (p.Y9=) |
- |
MTM1_000323 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
2 |
c.27T>G |
r.(?) |
p.(Tyr9*) |
- |
pathogenic |
g.149761103T>G |
g.150592641T>G |
- |
- |
MTM1_000285 |
- |
from website {DBsub-Emory} |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Madhuri Hegde |
+/. |
2 |
c.32C>A |
r.(?) |
p.(Ser11*) |
- |
pathogenic |
g.149761108C>A |
g.150592646C>A |
- |
- |
MTM1_000257 |
- |
- |
- |
- |
De novo |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
2 |
c.32C>G |
r.(?) |
p.(Ser11*) |
- |
pathogenic |
g.149761108C>G |
g.150592646C>G |
- |
- |
MTM1_000009 |
- |
PubMed: Laporte 2000 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
?/. |
- |
c.38C>T |
r.(?) |
p.(Ser13Phe) |
- |
VUS |
g.149761114C>T |
- |
MTM1(NM_000252.2):c.38C>T (p.S13F) |
- |
MTM1_000345 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
2 |
c.48_49insA |
r.(?) |
p.(Glu17Argfs*4) |
- |
pathogenic |
g.149761124_149761125insA |
g.150592662_150592663insA |
48-49insA |
- |
MTM1_000011 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2 |
c.49G>T |
r.(?) |
p.(Glu17*) |
- |
pathogenic |
g.149761125G>T |
g.150592663G>T |
G103T |
- |
MTM1_000010 |
- |
PubMed: Laporte 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2 |
c.49G>T |
r.(?) |
p.(Glu17*) |
- |
pathogenic |
g.149761125G>T |
g.150592663G>T |
- |
- |
MTM1_000010 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2 |
c.58A>T |
r.(?) |
p.(Lys20*) |
- |
pathogenic |
g.149761134A>T |
g.150592672A>T |
- |
- |
MTM1_000286 |
- |
from website {DBsub-Emory} |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Madhuri Hegde |
+/. |
2i |
c.63+1G>A |
r.spl |
p.? |
- |
pathogenic |
g.149761140G>A |
g.150592678G>A |
- |
- |
MTM1_000012 |
affects donor splice site |
PubMed: Laporte 2000 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2i |
c.63+2T>C |
r.1-10_63del |
p.(?) |
- |
pathogenic |
g.149761141T>C |
g.150592679T>C |
- |
- |
MTM1_000013 |
affects donor splice site |
PubMed: Herman 1999, PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2i |
c.63+2T>C |
r.1-10_63del |
p.(?) |
- |
pathogenic |
g.149761141T>C |
g.150592679T>C |
- |
- |
MTM1_000013 |
affects donor splice site |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
2i |
c.63+2T>G |
r.spl |
p.? |
- |
pathogenic |
g.149761141T>G |
g.150592679T>G |
- |
- |
MTM1_000014 |
affects donor splice site |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
?/. |
- |
c.63+7del |
r.(=) |
p.(=) |
- |
VUS |
g.149761146del |
g.150592684del |
MTM1(NM_000252.2):c.63+6del (p.(=)) |
- |
MTM1_000304 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
+/. |
2i_14i |
c.63+834_1645-2104del |
r.(?) |
p.(Thr22_Gln548del) |
- |
pathogenic |
g.149761973_149837797del |
g.150593511_150669324del |
- |
- |
MTM1_000016 |
75 kb deletion (exons 3-14); de novo, in patient |
- |
- |
- |
De novo |
- |
- |
- |
- |
- |
Jorge Oliveira |
-/. |
2i |
c.64-50A>T |
r.(=) |
p.(=) |
- |
benign |
g.149764912A>T |
g.150596448A>T |
- |
- |
MTM1_000021 |
- |
PubMed: Laporte 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
?/. |
2i |
c.64-50A>T |
r.(?) |
p.(=) |
- |
VUS |
g.149764912A>T |
g.150596448A>T |
- |
- |
MTM1_000021 |
- |
from website {DBsub-Emory} |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Madhuri Hegde |
-?/. |
2i |
c.64-50_64-49del |
r.(=) |
p.(=) |
- |
likely benign |
g.149764912_149764913del |
g.150596448_150596449del |
64-50_64-49delAG |
- |
MTM1_000213 |
- |
PubMed: Laporte 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
-?/. |
2i |
c.64-50_64-49del |
r.(?) |
p.(?) |
- |
likely benign |
g.149764912_149764913del |
g.150596448_150596449del |
- |
- |
MTM1_000213 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
-/. |
2i |
c.64-14T>C |
r.(=) |
p.(=) |
- |
benign |
g.149764948T>C |
g.150596484T>C |
- |
- |
MTM1_000214 |
- |
PubMed: Laporte 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
2i |
c.64-2A>G |
r.spl |
p.? |
- |
pathogenic |
g.149764960A>G |
g.150596496A>G |
- |
- |
MTM1_000015 |
affects acceptor splice site |
PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+?/. |
2i_14i |
c.(63+1_64-1)_(1644+1_1645-1)del |
r.? |
p.? |
ACMG |
pathogenic (recessive) |
g.(149761140_149764961)_(149832083_149839900)del |
g.(150592678_150596497)_(150663610_150671427)del |
del ex3-14 hg19 g.149761973_149837797del |
- |
MTM1_000343 |
ACMG 2B, 2E, 4L |
PubMed: Natera-de Benito 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/. |
2i_14i |
c.(63+1_64-1)_(1644+1_1645-1)del |
r.? |
p.? |
ACMG |
pathogenic (recessive) |
g.(149761140_149764961)_(149832083_149839900)del |
g.(150592678_150596497)_(150663610_150671427)del |
del ex3-14 hg19 g.149761973_149837797del |
- |
MTM1_000343 |
ACMG 2B, 2E, 4L |
PubMed: Natera-de Benito 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/. |
3 |
c.70C>T |
r.(?) |
p.(Arg24*) |
- |
pathogenic |
g.149764968C>T |
g.150596504C>T |
C124T |
- |
MTM1_000017 |
- |
PubMed: Laporte 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.70C>T |
r.(?) |
p.(Arg24*) |
- |
pathogenic |
g.149764968C>T |
g.150596504C>T |
- |
- |
MTM1_000017 |
- |
PubMed: Tsai 2005 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.70C>T |
r.(?) |
p.(Arg24*) |
- |
pathogenic |
g.149764968C>T |
g.150596504C>T |
- |
- |
MTM1_000017 |
- |
PubMed: Tsai 2005 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.70C>T |
r.(?) |
p.(Arg24*) |
- |
pathogenic |
g.149764968C>T |
g.150596504C>T |
- |
- |
MTM1_000017 |
- |
PubMed: Bijarnia 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.70C>T |
r.(?) |
p.(Arg24*) |
- |
pathogenic |
g.149764968C>T |
g.150596504C>T |
- |
- |
MTM1_000017 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.70C>T |
r.(?) |
p.(Arg24*) |
- |
pathogenic |
g.149764968C>T |
g.150596504C>T |
- |
- |
MTM1_000017 |
- |
from website {DBsub-Emory} |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Madhuri Hegde |
+/. |
3 |
c.85C>T |
r.(?) |
p.(Arg29*) |
- |
pathogenic |
g.149764983C>T |
g.150596519C>T |
C139T |
- |
MTM1_000018 |
de novo, in patient (maternal allele) |
PubMed: Tanner 1999a |
- |
- |
De novo |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.85C>T |
r.(?) |
p.(Arg29*) |
- |
pathogenic |
g.149764983C>T |
g.150596519C>T |
C139T |
- |
MTM1_000018 |
- |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.85C>T |
r.(?) |
p.(Arg29*) |
- |
pathogenic |
g.149764983C>T |
g.150596519C>T |
- |
- |
MTM1_000018 |
- |
PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.85C>T |
r.(?) |
p.(Arg29*) |
- |
pathogenic |
g.149764983C>T |
g.150596519C>T |
- |
- |
MTM1_000018 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.85C>T |
r.(?) |
p.(Arg29*) |
- |
pathogenic |
g.149764983C>T |
g.150596519C>T |
- |
- |
MTM1_000018 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
- |
c.85C>T |
r.(?) |
p.(Arg29Ter) |
- |
pathogenic |
g.149764983C>T |
g.150596519C>T |
- |
- |
MTM1_000018 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Nijmegen |
+/. |
- |
c.85C>T |
r.(?) |
p.(Arg29*) |
- |
pathogenic |
g.149764983C>T |
g.150596519C>T |
- |
- |
MTM1_000018 |
1 heterozygous, no homozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs587783857 |
Germline |
- |
1/2795 individuals |
- |
- |
- |
Mohammed Faruq |
+/. |
3 |
c.107del |
r.(?) |
p.(Pro36Leufs*8) |
- |
pathogenic |
g.149765005del |
g.150596541del |
106delC |
- |
MTM1_000019 |
- |
PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.107del |
r.(?) |
p.(Pro36Leufs*8) |
- |
pathogenic |
g.149765005del |
g.150596541del |
107delC |
- |
MTM1_000019 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
C163T |
- |
MTM1_000020 |
- |
PubMed: Laporte 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
C163T |
- |
MTM1_000020 |
de novo, in patient (maternal allele) |
PubMed: Laporte 1997 |
- |
- |
De novo |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
- |
PubMed: Laporte 2000 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
- |
PubMed: Buj-Bello 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
Genetic test performed in mother |
PubMed: Buj-Bello 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
- |
PubMed: Tachi 2001 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
- |
PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
- |
PubMed: Tsai 2005 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
109C/T |
- |
MTM1_000020 |
- |
PubMed: Flex 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3 |
c.109C>T |
r.(?) |
p.(Arg37*) |
- |
pathogenic |
g.149765007C>T |
g.150596543C>T |
- |
- |
MTM1_000020 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
?/. |
3 |
c.122A>G |
r.(?) |
p.(Glu41Gly) |
- |
VUS |
g.149765020A>G |
g.150596556A>G |
- |
- |
MTM1_000287 |
conserved residue (up to C. elegans) |
from website {DBsub-Emory} |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Madhuri Hegde |
+/. |
3i |
c.136+1G>A |
r.spl |
p.? |
- |
pathogenic |
g.149765035G>A |
g.150596571G>A |
- |
- |
MTM1_000022 |
affects donor splice site, genetic test performed in mother |
PubMed: Buj-Bello 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.136+1G>C |
r.spl |
p.? |
- |
pathogenic |
g.149765035G>C |
g.150596571G>C |
- |
- |
MTM1_000023 |
affects donor splice site |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
?/. |
- |
c.136+5G>A |
r.spl? |
p.? |
- |
VUS |
g.149765039G>A |
- |
MTM1(NM_000252.2):c.136+5G>A |
- |
MTM1_000346 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
-/. |
- |
c.136+9C>T |
r.(=) |
p.(=) |
- |
benign |
g.149765043C>T |
g.150596579C>T |
MTM1(NM_000252.2):c.136+9C>T |
- |
MTM1_000333 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
-?/. |
- |
c.136+9C>T |
r.(=) |
p.(=) |
- |
likely benign |
g.149765043C>T |
- |
MTM1(NM_000252.2):c.136+9C>T |
- |
MTM1_000333 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Utrecht |
-?/. |
- |
c.136+17A>G |
r.(=) |
p.(=) |
- |
likely benign |
g.149765051A>G |
- |
MTM1(NM_000252.2):c.136+17A>G |
- |
MTM1_000349 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Utrecht |
+/. |
3i |
c.137-19_137-16del |
r.137_231del |
p.Asp46Glyfs*7 |
- |
pathogenic |
g.149767037_149767040del |
g.150598573_150598576del |
(191-19)delACTT |
- |
MTM1_000024 |
de novo, in mother (grandpaternal allele) |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
-?/. |
3i |
c.137-11dup |
r.(=) |
p.(=) |
- |
likely benign |
g.149767045dup |
g.150598581dup |
137-11insT |
- |
MTM1_000222 |
- |
PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.137-11T>A |
r.137_231del |
p.Asp46Glyfs*7 |
- |
pathogenic |
g.149767045T>A |
g.150598581T>A |
T(191-11)A |
- |
MTM1_000025 |
affects acceptor splice site |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.137-11T>A |
r.137_231del |
p.Asp46Glyfs*7 |
- |
pathogenic |
g.149767045T>A |
g.150598581T>A |
T(191-11)A |
- |
MTM1_000025 |
affects acceptor splice site |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.137-11T>A |
r.spl? |
p.(=) |
- |
pathogenic |
g.149767045T>A |
g.150598581T>A |
- |
- |
MTM1_000025 |
Extremely skewed X inactivation |
PubMed: Flex 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.137-11T>A |
r.spl? |
p.(=) |
- |
pathogenic |
g.149767045T>A |
g.150598581T>A |
- |
- |
MTM1_000025 |
affects acceptor splice site |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
3i |
c.137-7T>G |
r.137_231del |
p.Asp46Glyfs*7 |
- |
pathogenic |
g.149767049T>G |
g.150598585T>G |
- |
- |
MTM1_000211 |
affects acceptor splice site |
PubMed: Herman 1999, PubMed: Herman 2002 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.137-4A>G |
r.spl? |
p.? |
- |
pathogenic |
g.149767052A>G |
g.150598588A>G |
- |
- |
MTM1_000027 |
affects acceptor splice site |
PubMed: Tsai 2005 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.137-4A>G |
r.spl? |
p.? |
- |
pathogenic |
g.149767052A>G |
g.150598588A>G |
- |
- |
MTM1_000027 |
affects acceptor splice site |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
3i |
c.137-4A>G |
r.spl? |
p.? |
- |
pathogenic |
g.149767052A>G |
g.150598588A>G |
- |
- |
MTM1_000027 |
- |
PubMed: Biancalana 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Wolfram Kress |
+/. |
3i |
c.137-3T>A |
r.spl? |
p.? |
- |
pathogenic |
g.149767053T>A |
g.150598589T>A |
T(191-3)A |
- |
MTM1_000028 |
affects acceptor splice site, genetic test performed in mother |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.137-3_137del |
r.spl? |
p.? |
- |
pathogenic |
g.149767053_149767056del |
g.150598589_150598592del |
(191-4)delATAG |
- |
MTM1_000026 |
affects acceptor splice site |
PubMed: Laporte 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
3i |
c.137-2A>T |
r.spl |
p.? |
- |
pathogenic |
g.149767054A>T |
g.150598590A>T |
- |
- |
MTM1_000029 |
affects acceptor splice site |
PubMed: Buj-Bello 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |
+/. |
4 |
c.137-?_231+?del |
r.(?) |
p.(Asp46Glyfs*7) |
- |
pathogenic |
g.149767056_149767150del |
- |
- |
- |
MTM1_000036 |
Exon 4 deletion
Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. |
PubMed: Tanner 1999a |
- |
- |
Germline |
- |
- |
- |
- |
- |
Jorge Oliveira |