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 protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect 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
ClassClinical: Classification of the variant based on the clinical consequences as published or submitted. NOTE: this classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). Classification should preferably be performed using standardised criteria; e.g. ACMG: 5 (dominant) (= disease associated, dominant inheritance), ACMG: 5 (recessive) (= disease associated, recessive inheritance), pathogenic (dominant), pathogenic (recessive), likely pathogenic (recessive) , VUS (= variant of unknown significance), likely benign (= likely not disease-associated), benign (= not disease-associated), non-disease phenotype, drug response, risk factor, associated with, etc. NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional
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.
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)
|

 ClassClinical
|

 RNA change
|

 Protein
|

 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
|
+/. |
2 |
c.96C>G |
- |
r.(?) |
p.(Asp32Glu) |
g.49448763G>C |
g.49054980G>C |
96C>G, Asp32Glu |
- |
KMT2D_000535 |
- |
PubMed: Liu 2015 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
-?/. |
- |
c.163C>T |
likely benign |
r.(?) |
p.(Pro55Ser) |
g.49448696G>A |
- |
KMT2D(NM_003482.3):c.163C>T (p.(Pro55Ser)) |
- |
KMT2D_000831 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
+/. |
2 |
c.166C>T |
- |
r.(?) |
p.(Gln56*) |
g.49448693G>A |
g.49054910G>A |
166C>T, Gln56* |
- |
KMT2D_000534 |
- |
- |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
2 |
c.166C>T |
- |
r.(?) |
p.(Gln56*) |
g.49448693G>A |
g.49054910G>A |
166C>T, Gln56* |
- |
KMT2D_000534 |
- |
- |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
2 |
c.166C>T |
- |
r.(?) |
p.(Gln56*) |
g.49448693G>A |
g.49054910G>A |
- |
- |
KMT2D_000534 |
inherited from affected parent |
submitted |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Nina Bögershausen |
+/. |
2 |
c.166C>T |
- |
r.(?) |
p.(Gln56*) |
g.49448693G>A |
g.49054910G>A |
- |
- |
KMT2D_000534 |
- |
submitted |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Nina Bögershausen |
+/. |
2i |
c.177-2A>C |
- |
r.177_400del |
p.Ser59Argfs*86 |
g.49448536T>G |
g.49054753T>G |
r.177_400del224 |
- |
KMT2D_000008 |
- |
PubMed: Micale 2014 |
- |
- |
De novo |
- |
- |
- |
0 |
- |
B. Augello |
+/. |
2i |
c.177-2A>G |
- |
r.spl |
p.? |
g.49448536T>C |
g.49054753T>C |
177-2A>G, (?) |
- |
KMT2D_000533 |
- |
- |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
2i |
c.177-2A>G |
- |
r.spl |
p.? |
g.49448536T>C |
g.49054753T>C |
- |
- |
KMT2D_000533 |
- |
submitted |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Nina Bögershausen |
+?/. |
- |
c.207T>A |
likely pathogenic |
r.(?) |
p.(Cys69*) |
g.49448504A>T |
- |
KMT2D(NM_003482.3):c.207T>A (p.(Cys69Ter)) |
- |
KMT2D_000830 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
-/. |
3 |
c.248G>A |
- |
r.(?) |
p.(Arg83Gln) |
g.49448463C>T |
g.49054680C>T |
- |
- |
KMT2D_000105 |
- |
- |
- |
rs55865069 |
Germline |
- |
up to 0.06 |
- |
0 |
- |
Andreas Laner |
-/. |
- |
c.248G>A |
benign |
r.(?) |
p.(Arg83Gln) |
g.49448463C>T |
- |
KMT2D(NM_003482.3):c.248G>A (p.R83Q) |
- |
KMT2D_000105 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL_Nijmegen |
-/. |
- |
c.248G>A |
benign |
r.(?) |
p.(Arg83Gln) |
g.49448463C>T |
- |
KMT2D(NM_003482.3):c.248G>A (p.R83Q) |
- |
KMT2D_000105 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
- |
c.303dup |
pathogenic |
r.(?) |
p.(Ser102Glufs*6) |
g.49448413dup |
- |
KMT2D(NM_003482.3):c.303dupG (p.S102Efs*6) |
- |
chr12_007082 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
?/. |
3 |
c.346T>C |
- |
r.(?) |
p.(Ser116Pro) |
g.49448365A>G |
g.49054582A>G |
- |
- |
KMT2D_000007 |
- |
PubMed: Micale 2014 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
B. Augello |
+/. |
3i |
c.400+1G>A |
- |
r.177_400del |
p.Ser59Argfs*86 |
g.49448310C>T |
g.49054527C>T |
- |
- |
KMT2D_000004 |
- |
PubMed: Micale 2014 |
- |
- |
Unknown |
? |
- |
- |
0 |
- |
B. Augello |
+/. |
3i |
c.400+2T>C |
- |
r.spl |
p.? |
g.49448309A>G |
g.49054526A>G |
400+2T>C, (?) |
- |
KMT2D_000532 |
- |
- |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
3i |
c.400+2T>C |
- |
r.spl |
p.? |
g.49448309A>G |
g.49054526A>G |
- |
- |
KMT2D_000532 |
- |
submitted |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Nina Bögershausen |
+/. |
3i |
c.401-3A>G |
- |
r.400_401insag |
p.Gly134Glufs*75 |
g.49448202T>C |
g.49054419T>C |
- |
- |
KMT2D_000005 |
- |
PubMed: Micale 2014 |
- |
- |
De novo |
- |
- |
- |
0 |
- |
B. Augello |
?/. |
- |
c.444C>T |
VUS |
r.(?) |
p.(=) |
g.49448156G>A |
- |
KMT2D(NM_003482.3):c.444C>T (p.G148=) |
- |
KMT2D_000698 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
+/. |
4 |
c.472del |
- |
r.(?) |
p.(Cys158Valfs*50) |
g.49448128del |
g.49054345del |
472delT, Cys158ValfsX50 |
- |
KMT2D_000531 |
- |
PubMed: Micale 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
-?/. |
- |
c.507A>C |
likely benign |
r.(?) |
p.(=) |
g.49448093T>G |
- |
KMT2D(NM_003482.3):c.507A>C (p.S169=) |
- |
chr12_007081 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
+/. |
4 |
c.509A>T |
- |
r.(?) |
p.(Gln170Leu) |
g.49448091T>A |
g.49054308T>A |
509A>T, ? |
- |
KMT2D_000530 |
- |
PubMed: Makrythanasis 2013 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
4 |
c.510G>A |
- |
r.(?) |
p.(=) |
g.49448090C>T |
g.49054307C>T |
510G>A, ? |
- |
KMT2D_000529 |
- |
PubMed: Makrythanasis 2013 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
-/. |
4 |
c.510G>C |
- |
r.(?) |
p.(Gln170His) |
g.49448090C>G |
g.49054307C>G |
- |
- |
KMT2D_000006 |
- |
PubMed: Micale 2014 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
B. Augello |
+/. |
4 |
c.510G>C |
- |
r.(?) |
p.(Gln170His) |
g.49448090C>G |
g.49054307C>G |
510G>C, ? |
- |
KMT2D_000006 |
- |
PubMed: Makrythanasis 2013 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
4i |
c.510+1G>A |
- |
r.spl |
p.? |
g.49448089C>T |
g.49054306C>T |
510+1G>A, splice site |
- |
KMT2D_000528 |
- |
PubMed: Miyake 2013 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+?/. |
4i |
c.511-1G>A |
pathogenic (dominant) |
r.spl |
p.? |
g.49447924C>T |
g.49054141C>T |
- |
- |
KMT2D_000720 |
- |
PubMed: de Billy 2019 |
- |
- |
De novo |
- |
- |
- |
0 |
- |
Emanuele Agolini |
-?/. |
- |
c.554G>A |
likely benign |
r.(?) |
p.(Arg185His) |
g.49447880C>T |
- |
KMT2D(NM_003482.3):c.554G>A (p.R185H) |
- |
KMT2D_000829 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
+/. |
5 |
c.588del |
- |
r.(?) |
p.(Cys197Alafs*11) |
g.49447846del |
g.49054063del |
588del, (Cys197Alafs*11) |
- |
KMT2D_000527 |
- |
PubMed: Makrythanasis 2013 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
5 |
c.589del |
- |
r.(?) |
p.(Cys197Alafs*11) |
g.49447845del |
g.49054062del |
589del, (Cys197Alafs*11) |
- |
KMT2D_000526 |
- |
PubMed: Makrythanasis 2013 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
?/. |
5 |
c.626C>T |
- |
r.(?) |
p.(Thr209Ile) |
g.49447808G>A |
g.49054025G>A |
- |
- |
KMT2D_000071 |
- |
PubMed: Micale 2014 |
- |
- |
Unknown |
? |
- |
- |
0 |
- |
B. Augello |
?/. |
- |
c.658G>A |
VUS |
r.(?) |
p.(Gly220Arg) |
g.49447776C>T |
- |
- |
- |
KMT2D_000724 |
- |
Journal: Reynhout 2019 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
Johan den Dunnen |
+/. |
5 |
c.669T>G |
- |
r.(?) |
p.(Tyr223*) |
g.49447765A>C |
g.49053982A>C |
669T>G, Tyr223X |
- |
KMT2D_000525 |
- |
PubMed: Micale 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
?/. |
- |
c.674-7C>A |
VUS |
r.(=) |
p.(=) |
g.49447431G>T |
- |
KMT2D(NM_003482.3):c.674-7C>A |
- |
chr12_007080 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
+/. |
- |
c.696dup |
pathogenic |
r.(?) |
p.(Glu233*) |
g.49447402dup |
- |
KMT2D(NM_003482.3):c.696dupT (p.E233*) |
- |
KMT2D_000828 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
+/. |
6 |
c.697G>T |
- |
r.(?) |
p.(Glu233*) |
g.49447401C>A |
g.49053618C>A |
697G>T, E233X |
- |
KMT2D_000524 |
- |
PubMed: Banka 2012 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
6 |
c.702del |
- |
r.(?) |
p.(Pro235Glnfs*26) |
g.49447396del |
g.49053613del |
702delG, P235QfsX26 |
- |
KMT2D_000523 |
- |
PubMed: Hannibal 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
6 |
c.705del |
- |
r.(?) |
p.(Glu237Serfs*24) |
g.49447393del |
g.49053610del |
705delA, Pro235ProfsX26 |
- |
KMT2D_000522 |
- |
PubMed: Micale 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
6 |
c.721del |
- |
r.(?) |
p.(Leu241Cysfs*20) |
g.49447377del |
g.49053594del |
721del, (Leu241Cysfs*20) |
- |
KMT2D_000521 |
- |
PubMed: Dentici 2015 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
6 |
c.741T>A |
- |
r.(?) |
p.(Cys247*) |
g.49447357A>T |
g.49053574A>T |
741T>A, Cys247X |
- |
KMT2D_000520 |
- |
- |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
6 |
c.741T>A |
- |
r.(?) |
p.(Cys247*) |
g.49447357A>T |
g.49053574A>T |
- |
- |
KMT2D_000520 |
- |
submitted |
- |
- |
De novo |
- |
- |
- |
0 |
- |
Nina Bögershausen |
+/. |
6 |
c.751dup |
- |
r.(?) |
p.(Tyr251Leufs*22) |
g.49447347dup |
g.49053564dup |
751dupT, Tyr251LeufsX22 |
- |
KMT2D_000519 |
- |
- |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
6 |
c.751dup |
- |
r.(?) |
p.(Tyr251Leufs*22) |
g.49447347dup |
g.49053564dup |
- |
- |
KMT2D_000519 |
- |
submitted |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Nina Bögershausen |
+/. |
6i |
c.839+2T>A |
- |
r.spl |
p.? |
g.49447257A>T |
g.49053474A>T |
- |
- |
KMT2D_000571 |
- |
submitted |
- |
- |
De novo |
- |
- |
- |
0 |
- |
Nina Bögershausen |
?/. |
6i |
c.839+69G>A |
- |
r.(=) |
p.(=) |
g.49447190C>T |
g.49053407C>T |
- |
- |
KMT2D_000104 |
- |
- |
- |
- |
Germline |
- |
- |
- |
0 |
- |
Andreas Laner |
+/. |
6i |
c.840-1G>A |
- |
r.spl |
p.? |
g.49447105C>T |
g.49053322C>T |
840-1G>A, |
- |
KMT2D_000518 |
- |
PubMed: Hannibal 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
?/. |
7 |
c.859A>G |
- |
r.(?) |
p.(Lys287Glu) |
g.49447085T>C |
g.49053302T>C |
- |
- |
KMT2D_000103 |
PolyPhen-2 benign score 0.009 |
- |
- |
- |
Germline |
- |
- |
- |
0 |
- |
Andreas Laner |
+/. |
7 |
c.859_860insT |
- |
r.(?) |
p.(Lys287Ilefs*6) |
g.49447084_49447085insA |
g.49053301_49053302insA |
859_860insT, (Lys287Ilefs*6) |
- |
KMT2D_000517 |
- |
PubMed: Makrythanasis 2013 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
-?/. |
- |
c.879G>A |
likely benign |
r.(?) |
p.(=) |
g.49447065C>T |
- |
KMT2D(NM_003482.3):c.879G>A (p.T293=) |
- |
KMT2D_000827 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
+/. |
7i |
c.954+1G>T |
- |
r.spl |
p.? |
g.49446989C>A |
g.49053206C>A |
954+1G>T, |
- |
KMT2D_000516 |
- |
PubMed: Li 2011 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
7i |
c.955-1G>A |
- |
r.spl? |
p.? |
g.49446856C>T |
g.49053073C>T |
- |
- |
KMT2D_000102 |
- |
- |
- |
- |
Germline |
- |
- |
- |
0 |
- |
Andreas Laner |
+/. |
8 |
c.1010C>T |
- |
r.(?) |
p.(Ser337Leu) |
g.49446800G>A |
g.49053017G>A |
1010C>T, S337L |
- |
KMT2D_000515 |
- |
PubMed: Banka 2012 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
-?/. |
- |
c.1010C>T |
likely benign |
r.(?) |
p.(Ser337Leu) |
g.49446800G>A |
- |
KMT2D(NM_003482.3):c.1010C>T (p.S337L) |
- |
KMT2D_000515 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
+/. |
8 |
c.1012G>T |
- |
r.(?) |
p.(Glu338*) |
g.49446798C>A |
g.49053015C>A |
1012G>T, (Glu338*) |
- |
KMT2D_000514 |
- |
PubMed: Makrythanasis 2013 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
8 |
c.1035_1036del |
- |
r.(?) |
p.(Cys346Serfs*17) |
g.49446774_49446775del |
g.49052991_49052992del |
1035_1036delCT, Leu345LeufsX18 |
- |
KMT2D_000513 |
- |
PubMed: Micale 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
?/. |
- |
c.1040A>G |
VUS |
r.(?) |
p.(His347Arg) |
g.49446770T>C |
- |
KMT2D(NM_003482.3):c.1040A>G (p.H347R) |
- |
KMT2D_000826 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
?/. |
- |
c.1042C>T |
VUS |
r.(?) |
p.(Arg348Cys) |
g.49446768G>A |
- |
KMT2D(NM_003482.3):c.1042C>T (p.R348C) |
- |
KMT2D_000697 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
+/. |
9 |
c.1142_1143insACCC |
- |
r.(?) |
p.(Thr382Profs*3) |
g.49446462_49446463insGGGT |
g.49052679_49052680insGGGT |
1142_1143insACCC, Pro381HisfsX3 |
- |
KMT2D_000512 |
- |
- |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
9 |
c.1142_1143insACCC |
- |
r.(?) |
p.(Thr382Profs*3) |
g.49446462_49446463insGGGT |
g.49052679_49052680insGGGT |
- |
- |
KMT2D_000512 |
- |
submitted |
- |
- |
De novo |
- |
- |
- |
0 |
- |
Nina Bögershausen |
-?/. |
- |
c.1149C>T |
likely benign |
r.(?) |
p.(=) |
g.49446456G>A |
- |
KMT2D(NM_003482.3):c.1149C>T (p.D383=) |
- |
KMT2D_000825 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
+/. |
9 |
c.1187C>G |
- |
r.(?) |
p.(Pro396Arg) |
g.49446418G>C |
g.49052635G>C |
1187C>G, Pro396Arg |
- |
KMT2D_000511 |
- |
- |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+?/. |
- |
c.1258+5G>A |
likely pathogenic |
r.spl? |
p.? |
g.49446342C>T |
- |
KMT2D(NM_003482.3):c.1258+5G>A |
- |
KMT2D_000695 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL_VUmc |
+?/. |
- |
c.1258+5G>A |
likely pathogenic |
r.spl? |
p.? |
g.49446342C>T |
- |
KMT2D(NM_003482.3):c.1258+5G>A |
- |
KMT2D_000695 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL_Nijmegen |
+/. |
10 |
c.1300del |
- |
r.(?) |
p.(Leu434*) |
g.49446166del |
g.49052383del |
1300delC, Leu434* |
- |
KMT2D_000510 |
- |
PubMed: Miyake 2013 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1301del |
- |
r.(?) |
p.(Leu434Glnfs*496) |
g.49446165del |
g.49052382del |
1301delT, Leu434GlnfsX496 |
- |
KMT2D_000509 |
- |
PubMed: Paulussen 2011 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
-?/. |
- |
c.1305C>T |
likely benign |
r.(?) |
p.(=) |
g.49446161G>A |
- |
KMT2D(NM_003482.3):c.1305C>T (p.N435=) |
- |
KMT2D_000694 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
+/. |
10 |
c.1328del |
- |
r.(?) |
p.(Pro443Hisfs*487) |
g.49446138del |
g.49052355del |
1324delC, P442HfsX487 |
- |
KMT2D_000508 |
- |
PubMed: Ng 2010, PubMed: Hannibal 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1328del |
- |
r.(?) |
p.(Pro443Hisfs*487) |
g.49446138del |
g.49052355del |
1328delC, Pro443Hisfs*487 |
- |
KMT2D_000508 |
- |
PubMed: Miyake 2013 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1345_1346del |
- |
r.(?) |
p.(Leu449Valfs*5) |
g.49446120_49446121del |
g.49052337_49052338del |
1345_1346delCT, Leu449ValfsX5 |
- |
KMT2D_000507 |
- |
PubMed: Micale 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1345_1346del |
- |
r.(?) |
p.(Leu449Valfs*5) |
g.49446120_49446121del |
g.49052337_49052338del |
1345_1346del, (Leu449Valfs*5) |
- |
KMT2D_000507 |
- |
PubMed: Dentici 2015 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1363del |
- |
r.(?) |
p.(Glu455Asnfs*475) |
g.49446103del |
g.49052320del |
1363delG, Glu455Asnfs*475 |
- |
KMT2D_000506 |
- |
- |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1363del |
- |
r.(?) |
p.(Glu455Asnfs*475) |
g.49446103del |
g.49052320del |
- |
- |
KMT2D_000506 |
- |
submitted |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Nina Bögershausen |
+/. |
10 |
c.1425del |
- |
r.(?) |
p.(Ala476Hisfs*454) |
g.49446041del |
g.49052258del |
1425delC, Pro475ProfsX455 |
- |
KMT2D_000505 |
- |
- |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1425del |
- |
r.(?) |
p.(Ala476Hisfs*454) |
g.49446041del |
g.49052258del |
- |
- |
KMT2D_000505 |
- |
submitted |
- |
- |
De novo |
- |
- |
- |
0 |
- |
Nina Bögershausen |
+/. |
10 |
c.1448dup |
- |
r.(?) |
p.(Leu483Phefs*17) |
g.49446018dup |
g.49052235dup |
1446insT, L483FfsX17 |
- |
KMT2D_000504 |
- |
PubMed: Banka 2012 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1483_1486del |
- |
r.(?) |
p.(Ser495Argfs*434) |
g.49445980_49445983del |
g.49052197_49052200del |
1483_1486delTCTC, S495RfsX434 |
- |
KMT2D_000503 |
- |
PubMed: Li 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
?/. |
- |
c.1487C>T |
VUS |
r.(?) |
p.(Pro496Leu) |
g.49445979G>A |
- |
KMT2D(NM_003482.3):c.1487C>T (p.P496L) |
- |
KMT2D_000692 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
+/. |
10 |
c.1503dupT |
- |
r.(?) |
p.(Pro502Serfs*7) |
g.49445963dup |
g.49052180dupA |
- |
- |
KMT2D_000003 |
- |
PubMed: Micale 2014 |
- |
- |
De novo |
- |
- |
- |
0 |
- |
Giuseppe Merla |
+/. |
10 |
c.1512_1513del |
- |
r.(?) |
p.(Pro506Thrfs*2) |
g.49445953_49445954del |
g.49052170_49052171del |
1512_1513delTC, P506TfsX2 |
- |
KMT2D_000502 |
- |
PubMed: Li 2011 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1530del |
pathogenic (dominant) |
r.(?) |
p.(Pro511Leufs*419) |
g.49445936del |
- |
1530_1530delA |
- |
KMT2D_000721 |
- |
PubMed: Martinez 2017, Journal: Martinez 2017 |
- |
- |
De novo |
- |
- |
- |
0 |
- |
Johan den Dunnen |
+/. |
10 |
c.1576_1577del |
- |
r.(?) |
p.(Ser526Thrfs*7) |
g.49445889_49445890del |
g.49052106_49052107del |
1576_1577delTC, Ser526ThrfsX7 |
- |
KMT2D_000501 |
- |
- |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1576_1577del |
- |
r.(?) |
p.(Ser526Thrfs*7) |
g.49445889_49445890del |
g.49052106_49052107del |
- |
- |
KMT2D_000501 |
- |
submitted |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Nina Bögershausen |
+/. |
10 |
c.1628C>T |
- |
r.(?) |
p.(Ser543Leu) |
g.49445838G>A |
g.49052055G>A |
1628C>T, S543L |
- |
KMT2D_000500 |
- |
PubMed: Li 2011 |
- |
- |
Germline |
no |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
10 |
c.1634del |
- |
r.(?) |
p.(Leu545Argfs*385) |
g.49445832del |
g.49052049del |
1634delT, L545RfsX |
- |
KMT2D_000499 |
- |
PubMed: Banka 2012 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
?/. |
10 |
c.1660T>A |
- |
r.(?) |
p.(Leu554Met) |
g.49445806A>T |
g.49052023A>T |
- |
- |
KMT2D_000101 |
- |
- |
- |
- |
Germline |
- |
- |
- |
0 |
- |
Andreas Laner |
./. |
- |
c.1667C>T |
- |
r.(?) |
p.(Pro556Leu) |
g.49445799G>A |
g.49052016G>A |
- |
- |
KMT2D_000118 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
- |
- |
Germline |
- |
- |
- |
0 |
- |
Johan den Dunnen |
?/. |
10 |
c.1668G>A |
- |
r.(=) |
p.(=) |
g.49445798C>T |
g.49052015C>T |
- |
- |
KMT2D_000100 |
- |
- |
- |
- |
Germline |
- |
- |
- |
0 |
- |
Andreas Laner |
-?/. |
- |
c.1725A>T |
likely benign |
r.(?) |
p.(=) |
g.49445741T>A |
- |
KMT2D(NM_003482.3):c.1725A>T (p.P575=) |
- |
KMT2D_000823 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
-?/. |
- |
c.1762T>C |
likely benign |
r.(?) |
p.(Ser588Pro) |
g.49445704A>G |
- |
KMT2D(NM_003482.3):c.1762T>C (p.S588P) |
- |
KMT2D_000691 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
+/. |
10 |
c.1781C>T |
- |
r.(?) |
p.(Pro594Leu) |
g.49445685G>A |
g.49051902G>A |
1781C>T, Pro594Leu |
- |
KMT2D_000498 |
- |
- |
- |
- |
Germline |
no |
- |
- |
0 |
- |
Vincent Gatinois |
-?/. |
- |
c.1793G>A |
likely benign |
r.(?) |
p.(Arg598His) |
g.49445673C>T |
- |
KMT2D(NM_003482.3):c.1793G>A (p.R598H) |
- |
KMT2D_000690 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
-?/. |
- |
c.1797G>A |
likely benign |
r.(?) |
p.(=) |
g.49445669C>T |
- |
KMT2D(NM_003482.3):c.1797G>A (p.L599=) |
- |
chr12_007079 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |
-?/. |
- |
c.1850T>A |
likely benign |
r.(?) |
p.(Leu617His) |
g.49445616A>T |
- |
KMT2D(NM_003482.3):c.1850T>A (p.L617H) |
- |
KMT2D_000689 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
+/. |
10 |
c.1921G>T |
- |
r.(?) |
p.(Glu641*) |
g.49445545C>A |
g.49051762C>A |
1921G>T, Glu641X |
- |
KMT2D_000497 |
- |
PubMed: Micale 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
?/. |
- |
c.1923A>C |
VUS |
r.(?) |
p.(Glu641Asp) |
g.49445543T>G |
- |
KMT2D(NM_003482.3):c.1923A>C (p.E641D) |
- |
KMT2D_000688 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
?/. |
- |
c.1930A>C |
VUS |
r.(?) |
p.(Met644Leu) |
g.49445536T>G |
- |
KMT2D(NM_003482.3):c.1930A>C (p.(Met644Leu)) |
- |
KMT2D_000687 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
0 |
- |
VKGL-NL |
+/. |
10 |
c.1940C>A |
- |
r.(?) |
p.(Pro647Gln) |
g.49445526G>T |
g.49051743G>T |
1940C>A, P647Q |
- |
KMT2D_000496 |
- |
PubMed: Li 2011 |
- |
- |
Germline |
? |
- |
- |
0 |
- |
Vincent Gatinois |
+/. |
14 |
c.1940C>A |
- |
r.(?) |
p.(Pro647Gln) |
g.49445526G>T |
g.49051743G>T |
1940C>A, (Pro647Gln) |
- |
KMT2D_000496 |
- |
PubMed: Makrythanasis 2013 |
- |
- |
Germline |
yes |
- |
- |
0 |
- |
Vincent Gatinois |
-?/. |
- |
c.1940C>A |
likely benign |
r.(?) |
p.(Pro647Gln) |
g.49445526G>T |
- |
KMT2D(NM_003482.3):c.1940C>A (p.P647Q) |
- |
KMT2D_000496 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL |