Global Variome shared LOVD
MKKS (McKusick-Kaufman syndrome)
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Unique variants in the MKKS gene
This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_170784.2 transcript reference sequence.
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.
Reported
: The number of times this variant has been reported in the database.
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
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%)
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
105 entries on 2 pages. Showing entries 1 - 100.
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Effect
Reported
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
+/., +?/.
7
-
c.?
r.(?)
p.?, p.F94SfsX9
-
likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive)
g.10393205T>A, g.?
-
BBS6:C499S, BBS6:Q147X, g.10393205T>A*, [F94SfsX9]+[F94SfsX9], [p.T501M];[p.R525H]
-
DNMT3B_000000, MKKS_000099
-
PubMed: Anasagasti-2013
,
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
,
PubMed: Katsanis-2001
,
1 more item
-
-
Germline, Unknown
yes
-
-
-
-
LOVD
+/.
1
-
c.-7485893_*1185894del
r.0?
p.0?
-
pathogenic
g.9200001_17900000del
g.9200001_17900000del
JAG1 del20p12.1-p12.2,
-
JAG1_000783
heterozygous
PubMed: Thorsteinsson 2021
-
-
Unknown
?
-
-
-
-
LOVD
?/.
1
1
c.-3436C>T
r.(?)
p.?
-
VUS
g.10417543G>A
-
BBS6: c.-3436C>T
-
MKKS_000099
-
PubMed: M'hamdi-2014
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
1
c.?
r.(?)
p.?
-
pathogenic
g.10417543G>A
-
c.-3436C >T
-
MKKS_000099
-
PubMed: M'hamdi 2014
-
-
Unknown
-
-
-
-
-
LOVD
-?/.
1
-
c.-649+2430T>G
r.(=)
p.(=)
-
likely benign
g.10412326A>C
-
MKKS(NM_018848.3):c.-649+6T>G
-
MKKS_000141
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/.
1
-
c.-417-13dup
r.(=)
p.(=)
-
likely benign
g.10394599dup
-
MKKS(NM_018848.3):c.-417-13dupT
-
MKKS_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
?/.
1
_3_6_
c.(?_-417-1)_*467{0}
r.0
p.0
-
VUS
g.(?_2639084)_(10394167_?)del
-
chr20:2639084-10394167
-
MKKS_000000
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
3
c.3G>H
r.?
p.?
-
VUS
g.10394160C>A
-
BBS6:p.[M1I];[Y37C]
-
MKKS_000127
-
PubMed: Scheidecker 2015
-
-
Germline
-
-
-
-
-
LOVD
-/.
2
3
c.16G>A
r.(?)
p.(Ala6Thr)
-
benign
g.10394147C>T
g.10413499C>T
MKKS(NM_018848.3):c.16G>A (p.A6T)
-
MKKS_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
?/.
1
-
c.59A>G
r.(?)
p.(Glu20Gly)
-
VUS
g.10394104T>C
-
MKKS(NM_018848.3):c.59A>G (p.E20G)
-
MKKS_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/., ./.
3
3
c.67A>G
r.(?)
p.(Arg23Gly)
-
likely benign
g.10394096T>C
g.10413448T>C
c.67T>C / g.10394096A>G, MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G)
-
MKKS_000048
VKGL data sharing initiative Nederland
Journal: Lim 2014
-
-
CLASSIFICATION record, Germline
no
-
-
-
-
Marianne Vos (LOVD-team)
,
VKGL-NL_Leiden
,
VKGL-NL_Utrecht
+/., +?/., ?/.
14
3
c.110A>G
r.(?)
p.(Tyr37Cys)
-
likely pathogenic, likely pathogenic (recessive), pathogenic, VUS
g.10394053T>C
g.10413405T>C
BBS6:c.110A>G, BBS6:p.[M1I];[Y37C], BBS6:Y37C, c.110A>G, MKKS(NM_018848.3):c.110A>G (p.Y37C)
-
MKKS_000005
VKGL data sharing initiative Nederland
PubMed: Eichers-2009
, Katsanis 2002,
PubMed: Feuillan-2011
,
PubMed: Katsanis-2001
,
PubMed: Stone 2017
,
3 more items
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
-?/.
1
3
c.114C>T
r.(?)
p.(Gly38=)
-
likely benign
g.10394049G>A
g.10413401G>A
MKKS(NM_018848.3):c.114C>T (p.G38=)
-
MKKS_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
3
c.116C>T
r.(?)
p.(Pro39Leu)
-
likely pathogenic
g.10394047G>A
-
c.116C>T p.(P39L)
-
MKKS_000123
-
PubMed: Abu-Safieh-2012
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
LOVD
+/., -/.
3
3
c.117C>T
r.(=), r.(?)
p.(=), p.(Pro39=)
-
benign, pathogenic
g.10394046G>A
g.10413398G>A
BBS6:c.117C>T, MKKS(NM_018848.3):c.117C>T (p.P39=)
-
MKKS_000067
VKGL data sharing initiative Nederland
PubMed: Hoskins-2003
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
+/.
3
3
c.119C>G
r.(?)
p.(Ser40*)
-
pathogenic
g.10394044G>C
-
c.119C>G
-
MKKS_000130
-
PubMed: Ullah-2017
-
-
Germline
yes
-
-
-
-
LOVD
+/., +?/.
2
3
c.121G>C
r.(?)
p.(Gly41Arg)
-
likely pathogenic, pathogenic
g.10394042C>G
-
[G41R]+[G41R], [p.G539D];[p.P632FfsX7]
-
MKKS_000122
-
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
-
-
Germline, Unknown
-
-
-
-
-
LOVD
?/.
1
3
c.166A>G
r.(?)
p.(Thr56Ala)
-
VUS
g.10393997T>C
g.10413349T>C
MKKS(NM_018848.3):c.166A>G (p.T56A)
-
MKKS_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/., ?/.
2
3
c.169A>G
r.(?)
p.(Thr57Ala)
-
likely pathogenic, VUS
g.10393994T>C
g.10413346T>C
BBS6:c.169A>G, MKKS(NM_018848.3):c.169A>G (p.T57A)
-
MKKS_000006
VKGL data sharing initiative Nederland
PubMed: Muller-2010
, Katsanis 2000
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
3
c.207C>T
r.(?)
p.(Val69=)
-
benign
g.10393956G>A
g.10413308G>A
MKKS(NM_018848.3):c.207C>T (p.V69=)
-
MKKS_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/.
4
3
c.269A>G
r.(?)
p.(Asp90Gly)
-
likely pathogenic, pathogenic
g.10393894T>C
g.10413246T>C
c.269A>G; p.D90G
-
MKKS_000046
-
PubMed: Gonzalez del Pozo 2013
,
PubMed: González-del Pozo 2014
-
-
Germline
yes
-
-
-
-
María González-del Pozo
+/., +?/.
5
3
c.295T>C
r.(?)
p.(Cys99Arg)
-
likely pathogenic, pathogenic, pathogenic (recessive)
g.10393868A>G
g.10413220A>G
BBS6:c.[295T>C];[492T>A], MKKS c.29ST >C p.(Cys99Arg), [c.197+1G>T];[p.L600S],
1 more item
-
MKKS_000097
homozygous
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
,
PubMed: Mary-2019
,
PubMed: Méjécase 2020
,
1 more item
-
-
Germline, Unknown
?
-
-
-
-
LOVD
-?/.
1
-
c.336A>G
r.(?)
p.(Thr112=)
-
likely benign
g.10393827T>C
g.10413179T>C
MKKS(NM_018848.3):c.336A>G (p.T112=)
-
MKKS_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.363A>C
r.(?)
p.(Lys121Asn)
-
VUS
g.10393800T>G
g.10413152T>G
MKKS(NM_018848.3):c.363A>C (p.K121N)
-
MKKS_000083
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
3
c.380del
r.(?)
p.(Cys127Serfs*32)
-
likely pathogenic
g.10393783del
-
BBS6:c.380delG
-
MKKS_000121
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
LOVD
+?/., -/., -?/.
3
3
c.416G>A
r.(?)
p.(Arg139Gln)
-
benign, likely benign, likely pathogenic
g.10393747C>T
g.10413099C>T
MKKS(NM_018848.3):c.416G>A (p.R139Q), MKKS/BBS6 c.416G>A, p.Arg139Gln
-
MKKS_000064
2 heterozygous, no homozygous;
Clinindb (India)
, VKGL data sharing initiative Nederland,
1 more item
PubMed: Kang 2016
,
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs145045986
CLASSIFICATION record, Germline, Unknown
?
2/2795 individuals
-
-
-
VKGL-NL_Utrecht
,
Mohammed Faruq
-?/.
1
-
c.420C>T
r.(?)
p.(Ile140=)
-
likely benign
g.10393743G>A
g.10413095G>A
MKKS(NM_018848.3):c.420C>T (p.I140=)
-
MKKS_000082
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
3
c.429delCT
r.(?)
p.?
-
unclassified
g.10393734delAG
-
[p.G119S; p.Y263H]
-
MKKS_000120
normal 2nd chromosome
PubMed: Imhoff-2011
-
-
Unknown
-
-
-
-
-
LOVD
?/.
1
3
c.429_433delinsTT
r.(?)
p.(Phe144_Ser145delinsCys)
-
unclassified
g.10393730_10393734delinsAA
-
c.429delCT433delAG
-
MKKS_000105
-
PubMed: Hichri-2005
-
-
Unknown
-
-
-
-
-
LOVD
+?/.
1
-
c.432_435del
r.(?)
p.(Phe144Leufs*14)
ACMG
likely pathogenic
g.10393729_10393732del
g.10413081_10413084del
MKKS, c.432_435delTAGT, p.Phe144Leufs*14, homozygous
-
MKKS_000134
-
PubMed: Perea-Romero 2021
-
-
Unknown
?
-
-
-
-
LOVD
+?/.
1
3
c.433delAG
r.(?)
p.?
-
likely pathogenic
g.10393730delCT
-
[p.L55P];[p.E274VfsX29]
-
MKKS_000119
-
PubMed: Imhoff-2011
-
-
Unknown
-
-
-
-
-
LOVD
+?/.
1
-
c.442C>T
r.(?)
p.(Gln148*)
-
pathogenic (recessive)
g.10393721G>A
g.10413073G>A
MKKS c.442C>T, p.(Gln148*)
-
chr11_007844
compound heterozygous
PubMed: Delvallee 2021
-
-
Germline
yes
-
-
-
-
LOVD
?/.
1
-
c.485C>T
r.(?)
p.(Pro162Leu)
-
VUS
g.10393678G>A
g.10413030G>A
MKKS(NM_018848.3):c.485C>T (p.P162L)
-
MKKS_000081
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
3
c.492T>A
r.(?)
p.(Cys164*)
-
pathogenic (recessive)
g.10393671A>T
-
BBS6:c.[295T>C];[492T>A]
-
MKKS_000137
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
LOVD
-/.
2
3
c.534C>T
r.(?)
p.(Ile178=)
-
benign
g.10393629G>A
g.10412981G>A
MKKS(NM_018848.3):c.534C>T (p.I178=)
-
MKKS_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
+/.
2
3
c.541G>C
r.(?)
p.(Ala181Pro)
-
pathogenic
g.10393622C>G
-
541G>C
-
MKKS_000115
-
PubMed: Fauser-2003
-
-
Unknown
-
-
-
-
-
LOVD
+/.
2
3
c.595_596del
r.(?)
p.(Ser199Phefs*22)
-
pathogenic
g.10393567_10393568del
-
BBS6:c.595_596delAG
-
MKKS_000132
-
PubMed: Jeziorny-2020
-
-
Germline
-
-
-
-
-
LOVD
-?/.
1
-
c.636C>T
r.(?)
p.(Ser212=)
-
likely benign
g.10393527G>A
g.10412879G>A
MKKS(NM_018848.3):c.636C>T (p.S212=)
-
MKKS_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
3
c.676C>A
r.(?)
p.(Gln226Lys)
-
VUS
g.10393487G>T
g.10412839G>T
MKKS(NM_018848.3):c.676C>A (p.Q226K)
-
MKKS_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
3
c.706T>C
r.(?)
p.(Ser236Pro)
-
likely pathogenic
g.10393457A>G
-
BBS6:S236P
-
MKKS_000114
-
PubMed: Eichers-2009
, Beales 2003
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
3
c.709A>C
r.(?)
p.(Thr237Pro)
-
pathogenic
g.10393454T>G
-
c.709A4C
-
MKKS_000103
-
PubMed: Hichri-2005
-
-
Unknown
-
-
-
-
-
LOVD
?/.
1
3
c.709A>G
r.(?)
p.(Thr237Ala)
-
VUS
g.10393454T>C
-
c.709A>G
-
MKKS_000104
-
PubMed: Hichri-2005
-
-
Unknown
-
-
-
-
-
LOVD
?/.
1
-
c.724G>A
r.(?)
p.(Ala242Thr)
-
VUS
g.10393439C>T
g.10412791C>T
MKKS(NM_018848.3):c.724G>A (p.A242T)
-
MKKS_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/., -/., -?/., ?/.
22
3
c.724G>T
r.(?)
p.(Ala242Ser)
-
benign, likely benign, likely pathogenic, likely pathogenic (recessive), pathogenic, VUS
g.10393439C>A
g.10412791C>A
BBS6: c.72>G>T, BBS6:A242S, c.724C>A, c.724G>T(h), c.[724G>T];[=], p.(Ala242Ser),
5 more items
-
MKKS_000016
1 heterozygous, no homozygous;
Clinindb (India)
, dominant-negative, g.10393439G>T,
3 more items
Journal: Lim 2014
,
PubMed: Billingsley-2010
,
PubMed: Castro Sanchez 2015
,
PubMed: Deveault-2011
,
8 more items
-
rs74315394
CLASSIFICATION record, Germline, Unknown
yes
1.7% ; absent in 96 controls, 1/2795 individuals, 3.4% ; absent in 96 controls
-
-
-
Marianne Vos (LOVD-team)
,
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
,
Mohammed Faruq
+/.
1
-
c.732_733del
r.(?)
p.(Phe244LeufsTer10)
-
pathogenic
g.10393432_10393433del
-
MKKS(NM_018848.3):c.732_733delTT (p.F244Lfs*10)
-
MKKS_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
4
3
c.748G>A
r.(?)
p.(Gly250Arg)
ACMG
likely pathogenic, pathogenic
g.10393415C>T
g.10412767C>T
BBS6:p.G250R (c.748G>A), c.748G>A, MKKS c.748G>A, p.(G250R),
1 more item
-
MKKS_000102
homozygous
PubMed: Huang 2021
,
PubMed: Perea-Romero 2021
,
PubMed: Pereiro-2010
,
PubMed: Sathya Priya-2015
-
-
Germline
yes
0/100 ethnically matched control chromosomes.
-
-
-
LOVD
+?/.
1
3
c.748G>M
r.(?)
p.(Gly250Arg)
-
likely pathogenic
g.10393415C>G
-
p.(Gly250Arg)
-
MKKS_000126
-
PubMed: Castro Sanchez 2015
-
-
Germline
-
-
-
-
-
LOVD
-/., ?/.
2
3
c.757T>C
r.(?)
p.(Ser253Pro)
-
benign, VUS
g.10393406A>G
g.10412758A>G
T757C
-
MKKS_000060
2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Katagiri 2014
,
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs201785599
Germline
-
2/2794 individuals
-
-
-
Mohammed Faruq
+/.
1
-
c.760G>T
r.(?)
p.(Asp254Tyr)
-
pathogenic
g.10393403C>A
g.10412755C>A
-
-
MKKS_000096
-
PubMed: Costa 2017
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
-
c.763dup
r.(?)
p.(Thr255AsnfsTer15)
-
pathogenic
g.10393400dup
-
MKKS(NM_018848.3):c.763dupA (p.T255Nfs*15)
-
MKKS_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/., ?/.
3
-
c.775del
r.(?)
p.(Thr259Leufs*21)
-
pathogenic, pathogenic (recessive), VUS
g.10393389del
g.10412741del
g.21483del, MKKS (NM_170784) (LOVD #0000638714), c.775del, p.(Thr259Leufs*21), Frameshift
-
MKKS_000089
homozygous
PubMed: Gumus 2021
,
PubMed: Riazuddin 2017
-
-
Germline
?
-
-
-
-
Johan den Dunnen
,
Evren Gümüş
+/.
2
3
c.792T>G
r.(?)
p.(Tyr264*)
-
pathogenic (recessive)
g.10393371A>C
-
BBS6:c.[792T>G];[792T>G]
-
MKKS_000136
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
LOVD
+?/.
2
3
c.830T>C
r.(?)
p.(Leu277Pro)
-
likely pathogenic
g.10393333A>G
g.10412685A>G
MKKS(NM_018848.3):c.830T>C (p.L277P)
-
MKKS_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/., +?/.
2
3
c.837del
r.(?)
p.(Gly280Glufs*4)
ACMG
likely pathogenic, pathogenic
g.10393326del
g.10412678del
c.837delA (p.Gly280GlufsX4), MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4)
-
MKKS_000101
-
PubMed: Duelund Hjortshoj-2010
,
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
LOVD
+?/.
1
-
c.844C>T
r.(?)
p.(Gln282*)
-
likely pathogenic
g.10393319G>A
g.10412671G>A
-
-
MKKS_000095
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
LOVD
+?/.
2
3
c.871G>T
r.(?)
p.(Val291Phe)
-
likely pathogenic
g.10393292C>A
-
c.871G>T p.(V291F)
-
MKKS_000118
-
PubMed: Abu-Safieh-2012
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
LOVD
+/., +?/., ?/.
3
3
c.890T>C
r.(?)
p.(Ile297Thr)
ACMG
likely pathogenic, pathogenic, VUS
g.10393273A>G
g.10412625A>G
BBS6:c.890T>C, c.890T>C, MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4)
-
MKKS_000100
-
PubMed: Jespersgaar 2019
,
PubMed: Muller-2010
,
PubMed: Schaefer-2011
-
-
Germline
?
-
-
-
-
LOVD
+/., +?/.
2
3
c.896C>T
r.(?)
p.(Pro299Leu)
-
likely pathogenic, pathogenic
g.10393267G>A
-
[p.L88R];[p.N461KfsX10], [P299L]+[P299L]
-
MKKS_000117
-
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
-
-
Germline, Unknown
-
-
-
-
-
LOVD
-?/.
2
3
c.926G>A
r.(?)
p.(Arg309His)
-
likely benign
g.10393237C>T
g.10412589C>T
c.926G>A, MKKS(NM_018848.3):c.926G>A (p.R309H)
-
MKKS_000078
VKGL data sharing initiative Nederland
PubMed: Chen-2011
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_AMC
?/.
1
-
c.963G>A
r.(?)
p.(Met321Ile)
-
VUS
g.10393200C>T
-
MKKS(NM_018848.3):c.963G>A (p.M321I)
-
MKKS_000139
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
2
3
c.973A>C
r.(?)
p.(Thr325Pro)
-
likely pathogenic
g.10393190T>G
-
BBS6:T325P
-
MKKS_000113
-
PubMed: Badano-2003
,
PubMed: Eichers-2009
, Beales 2003
-
-
Germline
-
-
-
-
-
LOVD
-/.
1
3i
c.985+16T>G
r.(=)
p.(=)
-
benign
g.10393162A>C
g.10412514A>C
MKKS(NM_018848.3):c.985+16T>G
-
MKKS_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
3i
c.985+33G>C
r.(=)
p.(=)
-
pathogenic
g.10393145C>G
-
BBS6:c.985+33G>C
-
MKKS_000112
-
PubMed: Hoskins-2003
-
-
Germline
-
-
-
-
-
LOVD
+?/.
1
3i
c.986-1G>A
r.spl?
p.?
-
likely pathogenic
g.10389452C>T
-
c.986-1G>A
-
MKKS_000125
-
PubMed: Yamamura 2018
-
-
Germline
-
-
-
-
-
LOVD
-?/.
1
-
c.1006C>G
r.(?)
p.(Leu336Val)
-
likely benign
g.10389431G>C
g.10408783G>C
MKKS(NM_018848.3):c.1006C>G (p.L336V)
-
MKKS_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/., -?/., ?/.
14
4
c.1015A>G
r.(?)
p.(Ile339Val)
-
benign, likely benign, VUS
g.10389422T>C
g.10408774T>C
BBS6: c.1015A>G, c.1015A>G, MKKS(NM_018848.3):c.1015A>G (p.I339V), NM_018848.3:c.1015A>G
-
MKKS_000015
VKGL data sharing initiative Nederland
PubMed: Bryant 2018
,
PubMed: Duelund Hjortshoj-2010
,
PubMed: Hichri-2005
,
PubMed: Khan 2016
,
1 more item
-
rs137853909
CLASSIFICATION record, Germline, Unknown
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+?/.
2
4
c.1034G>A
r.(?)
p.(Gly345Glu)
-
likely pathogenic
g.10389403C>T
g.10408755C>T
MKKS(NM_018848.3):c.1034G>A (p.G345E)
-
MKKS_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
?/.
1
-
c.1160A>G
r.(?)
p.(Lys387Arg)
-
VUS
g.10389277T>C
g.10408629T>C
MKKS(NM_018848.3):c.1160A>G (p.K387R)
-
MKKS_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
4i
c.1161+3A>G
r.spl?
p.?
-
likely benign
g.10389273T>C
g.10408625T>C
MKKS(NM_018848.3):c.1161+3A>G
-
MKKS_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.1161+5G>A
r.spl?
p.?
-
VUS
g.10389271C>T
-
MKKS(NM_018848.3):c.1161+5G>A
-
MKKS_000138
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
4i
c.1161+16del
r.(=)
p.(=)
-
likely benign
g.10389262del
g.10408614del
MKKS(NM_018848.3):c.1161+16delT
-
MKKS_000057
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
4i
c.1162-12del
r.(=)
p.(=)
-
likely benign
g.10388388del
g.10407740del
MKKS(NM_018848.3):c.1162-12delG
-
MKKS_000056
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.1167G>A
r.(?)
p.(Thr389=)
-
likely benign
g.10388369C>T
g.10407721C>T
MKKS(NM_018848.3):c.1167G>A (p.T389=)
-
MKKS_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/.
1
5
c.1175C>T
r.(?)
p.(Thr392Met)
-
likely pathogenic
g.10388361G>A
-
c.1175C>T
-
MKKS_000129
-
PubMed: Qi_2017
-
rs201183584
Germline
-
-
-
-
-
LOVD
-/.
1
5
c.1176G>A
r.(?)
p.(Thr392=)
-
benign
g.10388360C>T
g.10407712C>T
MKKS(NM_018848.3):c.1176G>A (p.T392=)
-
MKKS_000055
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/.
1
-
c.1184A>G
r.(?)
p.(His395Arg)
-
likely pathogenic
g.10388352T>C
g.10407704T>C
MKKS(NM_018848.3):c.1184A>G (p.(His395Arg))
-
MKKS_000087
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/., +?/.
4
5
c.1186G>T
r.(?)
p.(Val396Phe)
-
likely pathogenic, pathogenic
g.10388350C>A
g.10407702C>A
c.1186G>T; p.V396F
-
MKKS_000047
-
PubMed: Gonzalez del Pozo 2013
,
PubMed: González-del Pozo 2014
-
-
Germline
yes
-
-
-
-
María González-del Pozo
+/.
1
5
c.1192C>T
r.(?)
p.(Gln398*)
-
pathogenic
g.10388344G>A
-
c.1192C>T
-
MKKS_000128
-
PubMed: Qi_2017
-
-
Germline
-
-
-
-
-
LOVD
+?/.
1
5
c.1225_1226del
r.(?)
p.(Gly409Argfs*5)
-
likely pathogenic
g.10388310_10388311del
-
BBS6:c.1225_1226delGG
-
MKKS_000116
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
LOVD
+?/.
2
5
c.1232G>C
r.(?)
p.(Gly411Ala)
-
likely pathogenic
g.10388304C>G
g.10407656C>G
c.1232G>C/p.(G411A)
-
MKKS_000074
homozygous
PubMed: Castro-Sanchez 2019
-
-
Germline
yes
-
-
-
-
Sheila Castro-Sánchez
+?/.
2
-
c.1235G>C
r.(?)
p.(Cys412Ser)
-
likely pathogenic
g.10388301C>G
g.10407653C>G
MKKS c.1235G > C, p.(Cys412Ser)
-
MKKS_000131
homozygous; probably only one mutation contribute to milder phenotype,
1 more item
PubMed: Beigi 2021
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
1
5
c.1235G>T
c.1235G>T
p.(Cys412Phe)
ACMG
likely pathogenic
g.10388301C>A
g.10407653C>A
BBS6 c.1235G>T, p.(Cys412Phe)
-
MKKS_000111
homozygous
PubMed: Manara 2019
-
-
Germline
yes
-
-
-
-
LOVD
+/., +?/.
4
5
c.1239_1242dup
r.(?)
p.(Thr415*), p.(Thr415Ter)
ACMG
likely pathogenic, pathogenic, pathogenic (recessive)
g.10388294_10388297dup
g.10407646_10407649dup
BBS6:c.[1239_1242dup];[1478del], MKKS c.1239_1242dup, p.(Thr415*),
1 more item
-
MKKS_000071
single heterozygous variant (recessive), VKGL data sharing initiative Nederland
PubMed: Jespersgaar 2019
,
PubMed: Mary-2019
-
-
CLASSIFICATION record, Germline
?
-
-
-
-
VKGL-NL_Leiden
+/.
3
5i
c.1272+1G>A
r.spl?
p.?
-
pathogenic, pathogenic (recessive)
g.10388263C>T
-
c.1272 +1G >A, c.1272+1G>A, c.[1272+1G>A];[1272+1G>A]
-
MKKS_000098
-
PubMed: M'hamdi 2014
,
PubMed: M'hamdi-2014
,
PubMed: Redin-2012
-
-
Germline, Unknown
-
-
-
-
-
LOVD
-?/.
1
-
c.1282G>A
r.(?)
p.(Asp428Asn)
-
likely benign
g.10386326C>T
g.10405678C>T
MKKS(NM_018848.3):c.1282G>A (p.D428N)
-
MKKS_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/., ?/.
3
6
c.1294A>T
r.(?)
p.(Ile432Phe)
-
likely benign, VUS
g.10386314T>A
g.10405666T>A
c.1294A>T(h), MKKS(NM_018848.3):c.1294A>T (p.I432F)
-
MKKS_000075
VKGL data sharing initiative Nederland
PubMed: Janssen-2011
-
-
CLASSIFICATION record, Germline
-
0.017
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
-?/.
1
6
c.1356T>C
r.(?)
p.(Ser452=)
-
likely benign
g.10386252A>G
g.10405604A>G
MKKS(NM_018848.3):c.1356T>C (p.S452=)
-
MKKS_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
2
6
c.1361T>C
r.(?)
p.(Leu454Pro)
-
likely pathogenic, pathogenic
g.10386247A>G
-
BBS6:p.L454P (c.1361T>C), p.(Leu454Pro)
-
MKKS_000110
-
PubMed: Castro Sanchez 2015
,
PubMed: Pereiro-2010
-
-
Germline
yes
0/100 ethnically matched control chromosomes.
-
-
-
LOVD
+/.
1
6
c.1410_1413del
r.(?)
p.(Asp471Ter)
-
pathogenic
g.10386197_10386200del
g.10405549_10405552del
-
-
MKKS_000070
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/.
1
6
c.1414A>G
r.(?)
p.(Met472Val)
-
likely pathogenic
g.10386194T>C
-
BBS6:M472V
-
MKKS_000109
-
PubMed: Eichers-2009
, Beales 2003
-
-
Germline
-
-
-
-
-
LOVD
+?/.
1
-
c.1432T>C
r.(?)
p.(Trp478Arg)
-
likely pathogenic
g.10386176A>G
g.10405528A>G
c1432T>C
-
MKKS_000094
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/., ?/.
5
6
c.1436C>G
r.(?)
p.(Ser479*), p.(Ser479Ter)
-
likely pathogenic, pathogenic, unclassified
g.10386172G>C
g.10405524G>C
BBS6:c.1436C>G, c.1436C>G, MKKS(NM_018848.3):c.1436C>G (p.S479*)
-
MKKS_000029
VKGL data sharing initiative Nederland
PubMed: Hichri-2005
,
PubMed: Jeziorny-2020
-
-
CLASSIFICATION record, Germline, Unknown
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
?/.
1
6
c.1445C>A
r.(?)
p.(Ala482Glu)
-
VUS
g.10386163G>T
g.10405515G>T
MKKS(NM_018848.3):c.1445C>A (p.A482E)
-
MKKS_000053
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/., -/., ?/.
3
6
c.1462G>A
r.(?)
p.(Ala488Thr)
-
benign, likely pathogenic, VUS
g.10386146C>T
g.10405498C>T
MKKS(NM_018848.3):c.1462G>A (p.A488T), [A488T]+[=], [p.D480MfsX3];[p.D480MfsX3]
-
MKKS_000040
normal 2nd chromosome, VKGL data sharing initiative Nederland
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
-
-
CLASSIFICATION record, Germline, Unknown
-
-
-
-
-
VKGL-NL_Utrecht
+/.
1
6
c.1474G>A
r.(?)
p.(Asp492Asn)
-
pathogenic
g.10386134C>T
-
147>G>A
-
MKKS_000108
-
PubMed: Fauser-2003
-
-
Unknown
-
-
-
-
-
LOVD
+/.
2
6
c.1478del
r.(?)
p.(Leu493Cysfs*21)
-
pathogenic (recessive)
g.10386130del
-
BBS6:c.[1239_1242dup];[1478del]
-
MKKS_000135
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
6
c.1496G>A
r.(?)
p.(Cys499Tyr)
-
pathogenic
g.10386112C>T
-
c.1496G>A
-
MKKS_000124
-
PubMed: Xing-2014
-
-
Germline
-
-
-
-
-
LOVD
+?/.
1
6
c.1496G>C
r.(?)
p.(Cys499Ser)
-
likely pathogenic
g.10386112C>G
-
BBS6:C499S
-
MKKS_000107
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
Germline
-
-
-
-
-
LOVD
-?/.
1
6
c.1526A>G
r.(?)
p.(Asn509Ser)
-
likely benign
g.10386082T>C
g.10405434T>C
MKKS(NM_018848.3):c.1526A>G (p.N509S)
-
MKKS_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
-
c.1530G>A
r.(?)
p.(Trp510*)
ACMG
likely pathogenic
g.10386078C>T
g.10405430C>T
MKKS, c.1530G>A, p.Trp510*, homozygous
-
MKKS_000133
-
PubMed: Perea-Romero 2021
-
-
Germline
yes
-
-
-
-
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