Global Variome shared LOVD
COL2A1 (collagen, type II, alpha 1)
LOVD v.3.0 Build 27 [
Current LOVD status
]
Register as submitter
|
Log in
Curators:
Mouna Barat-Houari
and
Isabelle Touitou
View all genes
View COL2A1 gene homepage
View graphs about the COL2A1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene COL2A1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene COL2A1
View all variants in gene COL2A1
Full data view for gene COL2A1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene COL2A1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene COL2A1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene COL2A1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Unique variants in the COL2A1 gene
The variants shown are described using the NM_001844.4 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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
706 entries on 8 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
Next
Last »
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
-/.
1
-
c.-119C>T
r.(?)
p.(=)
-
benign
g.48398223G>A
g.48004440G>A
-
-
COL2A1_000568
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.-13C>A
r.(?)
p.(=)
-
likely benign
g.48398117G>T
g.48004334G>T
COL2A1(NM_001844.4):c.-13C>A
-
COL2A1_000603
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
4
_1_54_
c.(?_-181)_(*442_?)
r.0, r.spl
p.0, p.?
-
pathogenic
g.(?_48398104)_(48367189_?)del
-
Del exons 1-54 Gene deletion, del gene
-
COL2A1_000327
-
PubMed: Hoornaert 2010
,
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
2
1
c.1A>G
r.(?)
p.(Met1?), p.M1?
-
pathogenic
g.48398104T>C
g.48004321T>C
-
-
COL2A1_000231
VKGL data sharing initiative Nederland
PubMed: Richards 2010
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Isabelle Touitou
,
VKGL-NL_Nijmegen
+/+
1
1
c.3G>T
r.(?)
p.M1?
-
pathogenic
g.48398102C>A
g.48004319C>A
-
-
COL2A1_000171
-
PubMed: Richards 2007
-
-
Germline
-
-
-
-
-
Isabelle Touitou
?/.
1
-
c.8G>T
r.(?)
p.(Arg3Leu)
-
VUS
g.48398097C>A
g.48004314C>A
-
-
COL2A1_000567
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
5
1
c.25A>T
r.(?)
p.(Thr9Ser)
-
benign
g.48398080T>A
g.48004297T>A
COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S)
-
COL2A1_000401
VKGL data sharing initiative Nederland
-
-
rs3803183
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
+/.
1
1
c.26C>A
r.(?)
p.(Thr9Lys)
-
pathogenic
g.48398079G>T
g.48004296G>T
p.S9X according to NM_001844.3
-
COL2A1_000310
-
PubMed: Richards 2006
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
?/.
1
-
c.49G>T
r.(?)
p.(Val17Phe)
-
VUS
g.48398056C>A
g.48004273C>A
COL2A1(NM_001844.4):c.49G>T (p.V17F)
-
COL2A1_000657
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
-
c.65G>A
r.(?)
p.(Arg22Gln)
-
VUS
g.48398040C>T
g.48004257C>T
COL2A1(NM_001844.4):c.65G>A (p.R22Q)
-
COL2A1_000602
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
-
c.69T>A
r.(?)
p.(Cys23*)
-
pathogenic
g.48398036A>T
-
COL2A1(NM_001844.4):c.69T>A (p.C23*)
-
COL2A1_000733
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/.
1
1
c.70C>T
r.(?)
p.(Gln24*)
-
pathogenic
g.48398035G>A
g.48004252G>A
-
-
COL2A1_000277
-
-
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
1
c.74G>C
r.(?)
p.(G25A)
-
pathogenic
g.48398031C>G
g.48004248C>G
-
-
COL2A1_000184
-
PubMed: Zechi-Ceide 2008
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
+?/.
1
1
c.85C>T
r.(?)
p.(Gln29*)
-
likely pathogenic
g.48398020G>A
g.48004237G>A
-
-
COL2A1_000510
-
PubMed: Wang 2016
-
-
De novo
?
-
-
-
-
Mouna Barat-Houari
-?/.
1
-
c.85+9T>C
r.(=)
p.(=)
-
likely benign
g.48398011A>G
-
COL2A1(NM_001844.4):c.85+9T>C
-
COL2A1_000732
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
5
1i
c.85+18C>G
r.(=)
p.(=)
-
benign
g.48398002G>C
g.48004219G>C
COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G
-
COL2A1_000402
VKGL data sharing initiative Nederland
-
-
rs3803184
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
+/.
1
1i_16i
c.85+1360_1023+555del
r.(?)
p.?
-
pathogenic
g.48386108_48396662del
g.47992325_48002879del
-
-
COL2A1_000397
-
-
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+?/.
2
2
c.115C>T
r.(?)
p.(Gln39*)
-
likely pathogenic
g.48393879G>A
g.48000096G>A
-
-
COL2A1_000491
-
PubMed: Stone 2017
,
PubMed: Tompson 2017
-
-
Germline
?
-
-
-
-
Mouna Barat-Houari
+/.
1
2
c.123T>A
r.(?)
p.(Tyr41*)
-
pathogenic
g.48393871A>T
g.48000088A>T
-
-
COL2A1_000223
-
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
2
c.141G>A
r.(?)
p.(Trp47*)
-
pathogenic
g.48393853C>T
g.48000070C>T
4246 G-A W47X (N-propeptide)
-
COL2A1_000056
-
PubMed: Richards 2000
-
-
Germline
-
-
-
-
-
Isabelle Touitou
?/.
1
-
c.146C>T
r.(?)
p.(Pro49Leu)
-
VUS
g.48393848G>A
g.48000065G>A
-
-
COL2A1_000656
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
2
c.146del
r.(?)
p.(Pro49Argfs*19)
-
pathogenic
g.48393849del
g.48000066del
c.146delC
-
COL2A1_000226
-
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
-/.
1
-
c.147G>A
r.(?)
p.(Pro49=)
-
benign
g.48393847C>T
g.48000064C>T
COL2A1(NM_001844.4):c.147G>A (p.P49=)
-
COL2A1_000655
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
1
2
c.158_161dup
r.(?)
p.(Ile54Metfs*6)
-
pathogenic
g.48393833_48393836dup
g.48000050_48000053dup
4266 ins 4 bp in exon 2 with Frameshift stop in Exon 2
-
COL2A1_000057
-
PubMed: Richards 2000
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/., +?/.
5
2
c.166_167del
r.(?)
p.(Val56Leufs*2)
-
likely pathogenic, pathogenic
g.48393830_48393831del
g.48000047_48000048del
4269 del 2 bp with a frameshift: stop in exon 2, c.166_167delGT, COL2A1 c.166_167delGT, p.Val56fs
-
COL2A1_000058
heterozygous
PubMed: Liu 2020
,
PubMed: Richards 2000
,
PubMed: Richards 2010
-
-
Germline, Germline/De novo (untested), Unknown
?, yes
1/64
-
-
-
Isabelle Touitou
,
Mouna Barat-Houari
,
Nicole Van Gundy
+/+
1
2
c.170G>A
r.(?)
p.(Cys57Tyr)
-
pathogenic
g.48393824C>T
g.48000041C>T
-
-
COL2A1_000174
-
PubMed: McAlinden 2008
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
2
c.171_172del
r.(?)
p.(Cys57Ter)
-
pathogenic
g.48393824_48393825del
g.48000041_48000042del
171_172delTG
-
COL2A1_000082
-
PubMed: Gupta 2002
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
+/+, +/.
5
2
c.192C>A
r.(?)
p.(Cys64*), p.(Cys64Ter)
-
pathogenic
g.48393802G>T
g.48000019G>T
COL2A1(NM_001844.5):c.192C>A (p.C64*)
-
COL2A1_000175
VKGL data sharing initiative Nederland
PubMed: McAlinden 2008
,
PubMed: Richards 2010
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Isabelle Touitou
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
+/+, +/.
2
2
c.211_233dup
r.(?)
p.(Glu79Thrfs*2)
-
pathogenic
g.48393761_48393783dup
g.47999978_48000000dup
c.211_233dup23
-
COL2A1_000278
-
PubMed: Hoornaert 2010
,
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
-/., -?/.
4
-
c.213C>T
r.(?)
p.(Asp71=)
-
benign, likely benign
g.48393781G>A
g.47999998G>A
COL2A1(NM_001844.4):c.213C>T (p.D71=, p.(Asp71=))
-
COL2A1_000566
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
-?/.
1
-
c.214G>A
r.(?)
p.(Val72Met)
-
likely benign
g.48393780C>T
-
COL2A1(NM_001844.4):c.214G>A (p.V72M)
-
COL2A1_000707
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
2
c.219_221delinsGG
r.(?)
p.(Asp74Alafs*43)
-
pathogenic
g.48393773_48393775delinsCC
g.47999990_47999992delinsCC
-
-
COL2A1_000477
-
-
-
-
Germline
?, yes
-
-
-
-
Mouna Barat-Houari
+/.
1
2
c.221del
r.(?)
p.(Asp74Alafs*43)
-
pathogenic
g.48393773del
g.47999990del
-
-
COL2A1_000370
-
-
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
2
2
c.237del
r.(?)
p.(Ile80Serfs*37)
-
likely pathogenic, pathogenic
g.48393757del
g.47999974del
237delG
-
COL2A1_000139, COL2A1_000494
-
PubMed: Yoshida 2006
,
PubMed: Yoshida S
-
-
Germline, Unknown
?
-
-
-
-
Johan den Dunnen
,
Mouna Barat-Houari
-?/.
1
-
c.246C>T
r.(?)
p.(Phe82=)
-
likely benign
g.48393748G>A
g.47999965G>A
COL2A1(NM_001844.4):c.246C>T (p.F82=)
-
COL2A1_000667
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/.
4
2
c.258C>A
r.(?)
p.(C86*), p.(Cys86*)
-
likely pathogenic, pathogenic
g.48393736G>T
g.47999953G>T
p.(Cys86*)
-
COL2A1_000084
2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Donoso 2002
,
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Parma 2002
,
PubMed: Stone 2017
-
rs794727261
Germline, Unknown
-
2/2795 individuals
-
-
-
Johan den Dunnen
,
Isabelle Touitou
,
Mohammed Faruq
+/.
1
2
c.266_278del
r.(?)
p.(Cys89Serfs*24)
-
pathogenic
g.48393718_48393730del
g.47999935_47999947del
264_270delCTGCCCA
-
COL2A1_000199
-
PubMed: Hoornaert 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
?/.
1
2i
c.292+157C>A
r.(=)
p.(=)
-
VUS
g.48393545G>T
g.47999762G>T
-
-
COL2A1_000403
-
-
-
-
Unknown
-
-
-
-
-
Allan Richards
+/.
1
2i
c.293-1G>A
r.spl
p.?
-
pathogenic
g.48392215C>T
g.47998432C>T
-
-
COL2A1_000312
-
-
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
-
c.309+1G>A
r.spl?
p.?
-
pathogenic
g.48392197C>T
g.47998414C>T
-
-
COL2A1_000565
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
4
c.311del
r.(?)
p.(Gly104Aspfs*13)
-
pathogenic
g.48391985del
g.47998202del
-
-
COL2A1_000495
-
PubMed: Kondo 2016
-
-
Germline
yes
-
-
-
-
Mouna Barat-Houari
-?/.
1
-
c.319G>A
r.(?)
p.(Gly107Arg)
-
likely benign
g.48391975C>T
g.47998192C>T
-
-
COL2A1_000564
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.324A>T
r.(?)
p.(Glu108Asp)
-
VUS
g.48391970T>A
-
COL2A1(NM_001844.4):c.324A>T (p.(Glu108Asp))
-
COL2A1_000743
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
2
-
c.326C>G
r.(?)
p.(Pro109Arg)
-
likely benign
g.48391968G>C
g.47998185G>C
COL2A1(NM_001844.4):c.326C>G (p.P109R)
-
COL2A1_000563
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/.
1
4i
c.342+1G>A
r.spl
p.(Asp114_Ile115insIleSerAlaAsnTyrSerHisProValLeuGlnLeuLeu*14)
-
pathogenic
g.48391951C>T
g.47998168C>T
-
-
COL2A1_000279
-
PubMed: Hoornaert 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
5
c.351_352ins(10)
r.(?)
p.?
-
pathogenic
g.48391838_48391839insN[10]
-
10 bp insertion after codon 48
-
COL2A1_000462
-
PubMed: Brown 1995
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+?/.
1
-
c.386G>A
r.(?)
p.(Gly129Glu)
-
likely pathogenic
g.48391697C>T
g.47997914C>T
COL2A1(NM_001844.4):c.386G>A (p.G129E)
-
COL2A1_000601
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., ?/.
2
6
c.398C>A
r.(?)
p.(Pro133His)
-
pathogenic, VUS
g.48391685G>T
g.47997902G>T
-
-
COL2A1_000388
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Isabelle Touitou
,
VKGL-NL_Nijmegen
+/.
1
6
c.406dup
r.(?)
p.(Asp136Glyfs*4)
-
pathogenic
g.48391680dup
g.47997897dup
c.406dupG
-
COL2A1_000245
-
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
2
6
c.409C>T
r.(?)
p.(Arg137Cys)
-
pathogenic
g.48391674G>A
g.47997891G>A
-
-
COL2A1_000390
VUS or incomplete penetrance
Barat-Houari et al, pers.comm.
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/., ?/.
2
6
c.410G>A
r.(?)
p.(Arg137His)
-
pathogenic, VUS
g.48391673C>T
g.47997890C>T
COL2A1(NM_001844.4):c.410G>A (p.R137H)
-
COL2A1_000391
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Isabelle Touitou
,
VKGL-NL_Rotterdam
-/.
2
-
c.426A>T
r.(?)
p.(Glu142Asp)
-
benign
g.48391657T>A
g.47997874T>A
COL2A1(NM_001844.4):c.426A>T (p.(Glu142Asp), p.E142D)
-
COL2A1_000600
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_VUmc
+/.
1
6i
c.430-1G>C
r.spl
p.(Lys143_Asn178delExon7); p.(Gly144Valfs*54); p.(Gln125_Gly126ins19*20)
-
pathogenic
g.48391491C>G
g.47997708C>G
-
-
COL2A1_000280
cDNA analysis reveals that this splice site mutation generate 3 RNA isoforms
PubMed: Hoornaert 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
7
c.431G>T
r.(?)
p.(Gly144Val)
-
pathogenic
g.48391489C>A
g.47997706C>A
-
-
COL2A1_000172
-
PubMed: Richards 2007
-
-
Germline
-
-
-
-
-
Isabelle Touitou
?/.
1
7
c.434C>T
r.(?)
p.(Ala145Val)
-
VUS
g.48391486G>A
g.47997703G>A
-
-
COL2A1_000262
-
-
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
-?/.
1
-
c.435C>G
r.(?)
p.(Ala145=)
-
likely benign
g.48391485G>C
g.47997702G>C
-
-
COL2A1_000562
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
6
7
c.492del
r.(?)
p.(Gly165Valfs*34), p.(Gly165ValfsTer34)
-
pathogenic
g.48391428del
g.47997645del
c.492delT
-
COL2A1_000156, COL2A1_000281, COL2A1_000313
VKGL data sharing initiative Nederland
PubMed: Hoornaert 2010
,
PubMed: Richards 2006
,
PubMed: Richards 2010
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Isabelle Touitou
,
VKGL-NL_Nijmegen
-/.
4
-
c.504C>A
r.(=), r.(?)
p.(=), p.(Gly168=)
-
benign
g.48391416G>T
g.47997633G>T
COL2A1(NM_001844.4):c.504C>A (p.G168=), COL2A1(NM_001844.5):c.504C>A (p.G168=)
-
COL2A1_000461
VKGL data sharing initiative Nederland
-
-
rs3737548
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
?/.
1
-
c.508C>A
r.(?)
p.(Pro170Thr)
-
VUS
g.48391412G>T
g.47997629G>T
COL2A1(NM_001844.4):c.508C>A (p.P170T)
-
COL2A1_000654
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
7
c.509dup
r.(?)
p.(Gly171Trpfs*18)
-
pathogenic
g.48391416dup
g.47997633dup
c.509dupC
-
COL2A1_000246
-
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
2
7
c.510del
r.(?)
p.(Gly171Valfs*28)
-
pathogenic
g.48391410del
g.47997627del
-
-
COL2A1_000460
-
PubMed: Nishimura 2005
-
-
Germline
-
-
-
-
-
Isabelle Touitou
+/.
2
7
c.513del
r.(?)
p.(Pro173LeufsTer26)
-
pathogenic
g.48391407del
g.47997624del
510delT
-
COL2A1_000135
-
PubMed: Nishimura 2005
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.542C>T
r.(?)
p.(Ala181Val)
-
pathogenic
g.48390398G>A
g.47996615G>A
-
-
COL2A1_000459
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
-?/.
1
-
c.550G>A
r.(?)
p.(Ala184Thr)
-
likely benign
g.48390390C>T
-
COL2A1(NM_001844.4):c.550G>A (p.A184T)
-
COL2A1_000678
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
20
8
c.556G>T
r.(?)
p.(Gly186*)
-
pathogenic
g.48390384C>A
g.47996601C>A
-
-
COL2A1_000182
-
PubMed: Zechi-Ceide 2008
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
,
Isabelle Touitou
+/.
1
8
c.572del
r.(?)
p.(Ala191Valfs*8)
-
pathogenic
g.48390368del
g.47996585del
c.572delC
-
COL2A1_000247
-
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
8
8
c.583dup
r.(?)
p.(Gln195Profs*35)
-
pathogenic
g.48390359dup
g.47996576dup
c.583dupC Gln195GlufsX229
-
COL2A1_000328
-
PubMed: Zechi-Ceide 2008
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/., +?/.
2
8
c.598C>T
r.(?)
p.(Gln200*)
-
likely pathogenic, pathogenic (dominant)
g.48390342G>A
g.47996559G>A
c.598C>T
-
COL2A1_000689
-
PubMed: Zhou 2018
,
PubMed: Zhou-2011
-
-
Germline, Unknown
-
-
-
-
-
LOVD
-/.
1
-
c.606A>G
r.(?)
p.(Pro202=)
-
benign
g.48390334T>C
g.47996551T>C
COL2A1(NM_001844.4):c.606A>G (p.P202=)
-
COL2A1_000653
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.610-8C>T
r.(=)
p.(=)
-
likely benign
g.48389710G>A
g.47995927G>A
COL2A1(NM_001844.4):c.610-8C>T
-
COL2A1_000599
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/., -/., -?/.
4
8i
c.610-7G>A
r.(=), r.spl?
p.(=)
-
benign, likely benign, likely pathogenic
g.48389709C>T
g.47995926C>T
COL2A1(NM_001844.4):c.610-7G>A (p.(=), )
-
COL2A1_000394
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Isabelle Touitou
,
VKGL-NL_Leiden
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
+/.
1
9
c.611G>C
r.(?)
p.(Gly204Ala)
-
pathogenic
g.48389701C>G
g.47995918C>G
-
-
COL2A1_000450
-
PubMed: Kannu 2010
-
-
Germline
-
-
-
-
-
Isabelle Touitou
+/.
1
9
c.611G>T
r.(?)
p.(Gly204Val)
-
pathogenic
g.48389701C>A
g.47995918C>A
-
-
COL2A1_000458
-
PubMed: Rukavina 2014
-
-
Germline
-
-
-
-
-
Isabelle Touitou
+?/.
3
9
c.619G>A
r.(?)
p.(Gly207Arg)
-
likely pathogenic
g.48389693C>T
g.47995910C>T
-
-
COL2A1_000405
-
PubMed: Jurgens 2015
-
-
De novo, Germline, Germline/De novo (untested)
yes
-
-
-
-
Julie Jurgens
+/.
1
-
c.620G>A
r.(?)
p.(Gly207Glu)
-
pathogenic
g.48389692C>T
-
-
-
COL2A1_000706
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.623C>T
r.(?)
p.(Pro208Leu)
-
VUS
g.48389689G>A
-
COL2A1(NM_001844.4):c.623C>T (p.P208L)
-
COL2A1_000731
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/.
10
9
c.625C>T
r.(?)
p.(Arg209*)
-
pathogenic
g.48389687G>A
g.47995904G>A
p.Arg9* in exon 7, p.R9X in exon 7
-
COL2A1_000031
-
PubMed: Ahmad 1993
,
PubMed: Hoornaert 2010
,
PubMed: Liberfarb 2003
,
PubMed: Nishimura 2005
-
-
Germline, Unknown
-
-
-
-
-
Johan den Dunnen
,
Isabelle Touitou
+/.
1
-
c.629G>A
r.(?)
p.(Gly210Glu)
-
pathogenic
g.48389683C>T
g.47995900C>T
COL2A1(NM_001844.5):c.629G>A (p.G210E)
-
COL2A1_000598
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
1
-
c.632C>T
r.(?)
p.(Pro211Leu)
-
VUS
g.48389680G>A
g.47995897G>A
COL2A1(NM_001844.4):c.632C>T (p.P211L)
-
COL2A1_000652
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
9
c.638G>A
r.(?)
p.(Gly213Asp)
-
pathogenic
g.48389674C>T
g.47995891C>T
COL2A1(NM_001844.4):c.638G>A (p.G213D)
-
COL2A1_000449
VKGL data sharing initiative Nederland
PubMed: Kannu 2011
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Isabelle Touitou
,
VKGL-NL_Rotterdam
+/., +?/.
4
9
c.647G>A
r.(?)
p.(Gly216Asp), p.Gly216Asp
ACMG
likely pathogenic, pathogenic
g.48389665C>T
g.47995882C>T
-
-
COL2A1_000217
1 more item
PubMed: Hoornaert 2010
-
-
Germline, Unknown
-
-
-
-
-
Isabelle Touitou
,
Andreas Laner
+/.
1
9i
c.654+1G>A
r.spl
p.?
-
pathogenic
g.48389657C>T
g.47995874C>T
-
-
COL2A1_000284
-
PubMed: Hoornaert 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
-?/.
1
-
c.654+9C>A
r.(=)
p.(=)
-
likely benign
g.48389649G>T
g.47995866G>T
-
-
COL2A1_000560
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
5
-
c.654+15T>G
r.(=)
p.(=)
-
benign
g.48389643A>C
g.47995860A>C
COL2A1(NM_001844.4):c.654+15T>G, COL2A1(NM_001844.5):c.654+15T>G
-
COL2A1_000448
VKGL data sharing initiative Nederland
-
-
rs1034762
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
+/.
1
9i
c.655-1G>C
r.spl
p.?
-
pathogenic
g.48389547C>G
g.47995764C>G
-
-
COL2A1_000447
-
PubMed: Ang 2007
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
10
c.655G>C
r.(?)
p.(Gly219Arg)
-
pathogenic
g.48389546C>G
g.47995763C>G
-
-
COL2A1_000218
-
PubMed: Hoornaert 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
10
c.656G>A
r.(?)
p.(Gly219Glu)
-
pathogenic
g.48389545C>T
g.47995762C>T
-
-
COL2A1_000395
-
-
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
10
c.665G>T
r.(?)
p.(Gly222Val)
-
pathogenic
g.48389536C>A
g.47995753C>A
-
-
COL2A1_000219
-
PubMed: Hoornaert 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
10
c.671_672insT
r.(?)
p.(Gln224Hisfs*6)
-
pathogenic
g.48389529_48389530insA
g.47995746_47995747insA
-
-
COL2A1_000483
-
-
-
-
Germline
yes
-
-
-
-
Mouna Barat-Houari
./.
1
-
c.680C>A
r.(?)
p.(Pro227His)
-
likely pathogenic
g.48389521G>T
g.47995738G>T
NM_001844.4(COL2A1):c.680C>A p.(Pro227His)
-
COL2A1_000468
variant could not be associated with disease phenotype
PubMed: Vogelaar 2017
,
Journal: Vogelaar 2017
-
-
Germline
-
-
-
-
-
Marjolijn JL Ligtenberg
+/.
1
10
c.692G>A
r.(?)
p.(Gly231Asp)
-
pathogenic
g.48389509C>T
g.47995726C>T
-
-
COL2A1_000265
-
-
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
10
c.695_703del
r.(?)
p.(Glu232_Gly234del)
-
pathogenic
g.48389514_48389522del
g.47995731_47995739del
-
-
COL2A1_000486
-
-
-
-
Germline
yes
-
-
-
-
Mouna Barat-Houari
-/., -?/.
2
-
c.708+8C>T
r.(=)
p.(=)
-
benign, likely benign
g.48389485G>A
g.47995702G>A
COL2A1(NM_001844.4):c.708+8C>T (, p.(=))
-
COL2A1_000651
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_AMC
+/.
3
10i
c.709-2A>G
r.spl, r.[709_762del, ..]
p.?
-
pathogenic
g.48389093T>C
g.47995310T>C
-
-
COL2A1_000270
Skipping of exon 11 and of exons 11 and 13
PubMed: Miyamoto 2005
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
11
c.719G>A
r.(?)
p.(Gly240Asp)
-
pathogenic
g.48389081C>T
g.47995298C>T
-
-
COL2A1_000248
-
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
11
c.724del
r.(?)
p.(Arg242Valfs*66)
-
pathogenic
g.48389079del
g.47995296del
c.724delC
-
COL2A1_000249
-
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+/.
1
-
c.743del
r.(?)
p.(Pro248LeufsTer60)
-
pathogenic
g.48389061del
g.47995278del
-
-
COL2A1_000650
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
8
11
c.744del
r.(?)
p.(Gly249Glufs*59), p.(Gly249GlufsTer59)
-
pathogenic
g.48389056del
g.47995273del
744delT, c.744delT Pro248ProfsX307
-
COL2A1_000100, COL2A1_000329
-
PubMed: Baijens 2004
,
PubMed: Hoornaert 2010
,
PubMed: Zechi-Ceide 2008
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
,
Isabelle Touitou
+/.
1
11
c.756dup
r.(?)
p.(Asp253*)
-
pathogenic
g.48389044dup
g.47995261dup
c.756dupT
-
COL2A1_000250
-
PubMed: Richards 2010
-
-
Unknown
-
-
-
-
-
Isabelle Touitou
+?/.
1
11i
c.762+5G>A
r.spl?
p.?
-
likely pathogenic
g.48389033C>T
g.47995250C>T
-
-
COL2A1_000496
-
PubMed: Kondo 2016
-
-
Unknown
?
-
-
-
-
Mouna Barat-Houari
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
Next
Last »
Powered by
LOVD v.3.0
Build 27
LOVD software ©2004-2022
Leiden University Medical Center