Global Variome shared LOVD
NOTCH3 (notch 3)
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Curators:
Saskia Lesnik Oberstein
and
Julie Rutten
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Unique variants in the NOTCH3 gene
The variants shown are described using the NM_000435.2 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%)
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
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'
!=""
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!=""
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'
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366 entries on 4 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
+/.
1
20
c.?
r.(?)
p.(Gly?Cys)
-
pathogenic
g.?
-
Exon20 G1063C EGF27
-
NOTCH3_000058
varaint?, on position 1063 there is no Gly
PubMed: Joutel 2001
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-?/.
1
-
c.16C>T
r.(?)
p.(Arg6Cys)
-
likely benign
g.15311701G>A
-
NOTCH3(NM_000435.2):c.16C>T (p.R6C)
-
NOTCH3_000379
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.30_35dup
r.(?)
p.(Arg12_Arg13dup)
-
VUS
g.15311692_15311697dup
-
NOTCH3(NM_000435.2):c.30_35dup (p.(Arg12_Arg13dup))
-
NOTCH3_000400
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
-
c.33_35dup
r.(?)
p.(Arg13dup)
-
VUS
g.15311695_15311697dup
-
NOTCH3(NM_000435.2):c.33_35dupCCG (p.R13dup)
-
NOTCH3_000384
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.48G>A
r.(?)
p.(Ser16=)
-
benign
g.15311669C>T
g.15200858C>T
NOTCH3(NM_000435.3):c.48G>A (p.S16=)
-
NOTCH3_000289
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/.
1
-
c.48_53dup
r.(?)
p.(Pro22_Pro23dup)
-
VUS
g.15311665_15311670dup
g.15200854_15200859dup
NOTCH3(NM_000435.2):c.48_53dupGCCGCC (p.P22_P23dup)
-
NOTCH3_000350
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/.
1
-
c.86del
r.(?)
p.(Leu29ArgfsTer5)
-
benign
g.15311631del
g.15200820del
NOTCH3(NM_000435.3):c.86delT (p.L29Rfs*5)
-
NOTCH3_000349
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.96_98del
r.(?)
p.(Leu33del)
-
likely benign
g.15311630_15311632del
g.15200819_15200821del
NOTCH3(NM_000435.3):c.96_98delGCT (p.L33del)
-
NOTCH3_000287
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.101C>T
r.(?)
p.(Ala34Val)
-
likely benign
g.15311616G>A
g.15200805G>A
NOTCH3(NM_000435.3):c.101C>T (p.A34V)
-
NOTCH3_000286
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.118+11G>C
r.(=)
p.(=)
-
likely benign
g.15311588C>G
g.15200777C>G
NOTCH3(NM_000435.3):c.118+11G>C
-
NOTCH3_000348
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.120C>T
r.(?)
p.(Ala40=)
-
likely benign
g.15308388G>A
g.15197577G>A
NOTCH3(NM_000435.3):c.120C>T (p.A40=)
-
NOTCH3_000347
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/?
1
2
c.127T>G
r.(?)
p.(Cys43Gly)
-
VUS
g.15308381A>C
g.15197570A>C
-
-
NOTCH3_000123
-
PubMed: Peters 2005
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
2
c.128G>T
r.(?)
p.(Cys43Phe)
-
VUS
g.15308380C>A
g.15197569C>A
-
-
NOTCH3_000080
-
PubMed: Lesnik Oberstein 2003
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+?/+
1
2
c.145T>G
r.(?)
p.(Cys49Gly)
-
likely pathogenic
g.15308363A>C
g.15197552A>C
-
-
NOTCH3_000136
-
PubMed: published
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
2
c.146G>A
r.(?)
p.(Cys49Tyr)
-
VUS
g.15308362C>T
g.15197551C>T
-
-
NOTCH3_000017
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
2
c.146G>T
r.(?)
p.(Cys49Phe)
-
VUS
g.15308362C>A
g.15197551C>A
-
-
NOTCH3_000091
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
2
c.160C>T
r.(?)
p.(Arg54Cys)
-
VUS
g.15308348G>A
g.15197537G>A
-
-
NOTCH3_000048
-
PubMed: Escary 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-?/.
1
-
c.168C>G
r.(?)
p.(Thr56=)
-
likely benign
g.15308340G>C
-
NOTCH3(NM_000435.3):c.168C>G (p.T56=)
-
NOTCH3_000378
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/?
1
2
c.179C>G
r.(?)
p.(Ser60Cys)
-
VUS
g.15308329G>C
g.15197518G>C
-
-
NOTCH3_000092
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-?/., ?/.
3
-
c.181C>T
r.(?)
p.(Arg61Trp)
-
likely benign, VUS
g.15308327G>A
g.15197516G>A
NOTCH3(NM_000435.2):c.181C>T (p.R61W, p.(Arg61Trp)), NOTCH3(NM_000435.3):c.181C>T (p.R61W)
-
NOTCH3_000346
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
+/?
1
2
c.194G>A
r.(?)
p.(Cys65Tyr)
-
pathogenic
g.15308314C>T
g.15197503C>T
-
-
NOTCH3_000137
-
PubMed: Bianchi 2008
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
2
c.194G>C
r.(?)
p.(Cys65Ser)
-
VUS
g.15308314C>G
g.15197503C>G
-
-
NOTCH3_000093
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-/-, -?/-?
2
2i_16i
c.(197+1_198-1)_(2566+1_2567-1)del
r.(198_2566)del, r.198_2566del
p.?
-
benign, likely benign
g.(15292613_15295105)_(15303331_15308310)del
-
r.198_2566del (Cys67fs)
-
NOTCH3_000206
variant affects protein function but is not associated with phenotype CADASIL
PubMed: Rutten 2013
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Martine van Belzen
+/.
1
-
c.199T>C
r.(?)
p.(Cys67Arg)
-
pathogenic
g.15303329A>G
-
NOTCH3(NM_000435.2):c.199T>C (p.(Cys67Arg))
-
NOTCH3_000418
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/?
1
3
c.200G>A
r.(?)
p.(Cys67Tyr)
-
VUS
g.15303328C>T
g.15192517C>T
-
-
NOTCH3_000077
-
PubMed: Moon 2003
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/.
1
-
c.204G>A
r.(?)
p.(Pro68=)
-
VUS
g.15303324C>T
g.15192513C>T
NOTCH3(NM_000435.2):c.204G>A (p.(=))
-
NOTCH3_000344
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/?
2
3
c.213G>T
r.(?)
p.(Trp71Cys)
-
VUS
g.15303315C>A
g.15192504C>A
-
-
NOTCH3_000001
-
PubMed: Joutel 1996
OMIM:var0001
-
rs28937321
Germline, Unknown
-
-
-
-
-
Global Variome, with Curator vacancy
,
Martine van Belzen
-?/.
1
-
c.223C>T
r.(?)
p.(Arg75Trp)
-
likely benign
g.15303305G>A
g.15192494G>A
NOTCH3(NM_000435.3):c.223C>T (p.R75W)
-
NOTCH3_000285
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/?
1
3
c.224G>C
r.(?)
p.(Arg75Pro)
-
pathogenic
g.15303304C>G
g.15192493C>G
-
-
NOTCH3_000128
-
PubMed: Kim 2006
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
3
c.226T>C
r.(?)
p.(Cys76Arg)
-
VUS
g.15303302A>G
g.15192491A>G
-
-
NOTCH3_000073
-
PubMed: Markus 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
3
c.228T>G
r.(?)
p.(Cys76Trp)
-
VUS
g.15303300A>C
g.15192489A>C
-
-
NOTCH3_000094
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/.
1
-
c.244T>G
r.(?)
p.(Cys82Gly)
-
pathogenic
g.15303284A>C
-
NOTCH3(NM_000435.2):c.244T>G (p.(Cys82Gly))
-
NOTCH3_000411
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/?
1
3
c.259T>C
r.(?)
p.(Cys87Arg)
-
VUS
g.15303269A>G
g.15192458A>G
-
-
NOTCH3_000095
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
3
c.268C>T
r.(?)
p.(Arg90Cys)
-
VUS
g.15303260G>A
g.15192449G>A
-
-
NOTCH3_000018
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
3
c.277_279dup
r.(?)
p.(Cys93dup)
-
VUS
g.15303250_15303252dup
g.15192439_15192441dup
357insTGC
-
NOTCH3_000135
-
PubMed: Mazzei 2007
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
3
c.278G>A
r.(?)
p.(Cys93Tyr)
-
VUS
g.15303250C>T
g.15192439C>T
-
-
NOTCH3_000065
-
PubMed: Kalimo 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
3
c.278G>T
r.(?)
p.(Cys93Phe)
-
VUS
g.15303250C>A
g.15192439C>A
-
-
NOTCH3_000038
-
PubMed: Dichgans 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-/.
2
-
c.303C>T
r.(?)
p.(Thr101=)
-
benign
g.15303225G>A
g.15192414G>A
NOTCH3(NM_000435.2):c.303C>T (p.T101=), NOTCH3(NM_000435.3):c.303C>T (p.T101=)
-
NOTCH3_000167
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
-?/-?
1
3
c.307C>T
r.307c>u
p.Arg103*
-
likely benign
g.15303221G>A
g.15192410G>A
-
-
NOTCH3_000204
variant affects protein function but is not associated with phenotype CADASIL
PubMed: Rutten 2013
-
-
Germline
-
-
-
-
-
Martine van Belzen
?/?
1
3
c.318C>G
r.(?)
p.(Cys106Trp)
-
VUS
g.15303210G>C
g.15192399G>C
-
-
NOTCH3_000096
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/.
1
3
c.322T>C
r.(?)
p.(Cys108Arg)
-
pathogenic
g.15303206A>G
g.15192395A>G
322C>T
-
NOTCH3_000138
-
PubMed: Wang ZX 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
3
c.323G>A
r.(?)
p.(Cys108Tyr)
-
pathogenic
g.15303205C>T
g.15192394C>T
-
-
NOTCH3_000097
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/?
1
3
c.324C>G
r.(?)
p.(Cys108Trp)
-
pathogenic
g.15303204G>C
g.15192393G>C
-
-
NOTCH3_000139
-
PubMed: Rojas-Marcos 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
3
c.328C>T
r.(?)
p.(Arg110Cys)
-
VUS
g.15303200G>A
g.15192389G>A
-
-
NOTCH3_000019
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-?/.
1
-
c.338G>A
r.(?)
p.(Arg113Gln)
-
likely benign
g.15303190C>T
g.15192379C>T
NOTCH3(NM_000435.2):c.338G>A (p.R113Q)
-
NOTCH3_000284
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.340+14A>G
r.(=)
p.(=)
-
likely benign
g.15303174T>C
g.15192363T>C
NOTCH3(NM_000435.2):c.340+14A>G (p.(=))
-
NOTCH3_000168
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/?
1
4
c.350G>T
r.(?)
p.(Cys117Phe)
-
VUS
g.15303100C>A
g.15192289C>A
-
-
NOTCH3_000032
-
PubMed: Dichgans 1999
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/?
1
4
c.353C>G
r.(?)
p.(Ser118Cys)
-
pathogenic
g.15303097G>C
g.15192286G>C
-
-
NOTCH3_000155
-
PubMed: Lee 2006
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
4
c.368G>A
r.(?)
p.(Cys123Tyr)
-
VUS
g.15303082C>T
g.15192271C>T
-
-
NOTCH3_000049
-
PubMed: Escary 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
4
c.368G>T
r.(?)
p.(Cys123Phe)
-
VUS
g.15303082C>A
g.15192271C>A
-
-
NOTCH3_000039
-
PubMed: Dichgans 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/?, ?/?
2
4
c.382T>G
r.(?)
p.(Cys128Gly)
-
pathogenic, VUS
g.15303068A>C
g.15192257A>C
-
-
NOTCH3_000129, NOTCH3_000153
-
PubMed: Coto 2006
,
PubMed: published
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
4
c.383G>A
r.(?)
p.(Cys128Tyr)
-
VUS
g.15303067C>T
g.15192256C>T
-
-
NOTCH3_000066
-
PubMed: Kalimo 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.383G>T
r.(?)
p.(Cys128Phe)
-
pathogenic
g.15303067C>A
g.15192256C>A
-
-
NOTCH3_000132
-
{lab Leiden}
-
-
Unknown
-
-
-
-
-
Martine van Belzen
-?/.
1
-
c.390C>T
r.(?)
p.(His130=)
-
likely benign
g.15303060G>A
g.15192249G>A
NOTCH3(NM_000435.3):c.390C>T (p.H130=)
-
NOTCH3_000362
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+?/.
1
-
c.391G>A
r.(?)
p.(Gly131Ser)
ACMG
likely pathogenic (dominant)
g.15303059C>T
g.15192248C>T
-
-
NOTCH3_000402
ACMG PM1, PM2, PP2, PP3
PubMed: Marinakis 2021
-
rs767150916
Germline/De novo (untested)
-
-
-
-
-
Jan Traeger-Synodinos
+/+
1
4
c.391G>T
r.(?)
p.(Gly131Cys)
-
pathogenic
g.15303059C>A
g.15192248C>A
-
-
NOTCH3_000161
-
PubMed: Ungaro2008
-
-
Unknown
-
-
-
-
-
Judith Pagan
+/+, +/., ?/?
3
4
c.397C>T
r.(?)
p.(Arg133Cys)
ACMG
pathogenic, pathogenic (dominant), VUS
g.15303053G>A
g.15192242G>A
-
-
NOTCH3_000008
ACMG PM1, PM2, PP2, PP3, PP5
PubMed: Joutel 1997
OMIM:var0008
,
PubMed: Marinakis 2021
,
PubMed: Mykkanen 2004
OMIM:var0008
-
rs137852642
Germline, Germline/De novo (untested)
-
-
-
-
-
Global Variome, with Curator vacancy
,
Jan Traeger-Synodinos
?/?
1
4
c.402C>G
r.(?)
p.(Cys134Trp)
-
VUS
g.15303048G>C
g.15192237G>C
-
-
NOTCH3_000059
-
PubMed: Joutel 2001
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/.
1
-
c.407T>G
r.(?)
p.(Val136Gly)
ACMG
VUS
g.15303043A>C
g.15192232A>C
-
-
NOTCH3_000368
1 more item
-
-
-
Germline
-
-
-
-
-
Andreas Laner
+/+, +/.
2
4
c.421C>T
r.(?)
p.(Arg141Cys)
-
pathogenic
g.15303029G>A
g.15192218G>A
NOTCH3(NM_000435.2):c.421C>T (p.(Arg141Cys))
-
NOTCH3_000020
VKGL data sharing initiative Nederland
PubMed: Joutel 1997
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
VKGL-NL_Leiden
+/+
1
4
c.425T>G
r.(?)
p.(Phe142Cys)
-
pathogenic
g.15303025A>C
g.15192214A>C
-
-
NOTCH3_000067
-
PubMed: Kalimo 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.431G>A
r.(?)
p.(Cys144Tyr)
-
pathogenic
g.15303019C>T
g.15192208C>T
-
-
NOTCH3_000040
-
PubMed: Dichgans 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.431G>C
r.(?)
p.(Cys144Ser)
-
pathogenic
g.15303019C>G
g.15192208C>G
-
-
NOTCH3_000041
-
PubMed: Dichgans 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.431G>T
r.(?)
p.(Cys144Phe)
-
pathogenic
g.15303019C>A
g.15192208C>A
-
-
NOTCH3_000045
-
PubMed: Grigg 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-?/.
2
-
c.432C>T
r.(?)
p.(Cys144=)
-
likely benign
g.15303018G>A
g.15192207G>A
NOTCH3(NM_000435.2):c.432C>T (p.C144=), NOTCH3(NM_000435.3):c.432C>T (p.C144=)
-
NOTCH3_000361
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
?/?
1
4
c.434C>G
r.(?)
p.(Ser145Cys)
-
VUS
g.15303016G>C
g.15192205G>C
-
-
NOTCH3_000098
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.436T>C
r.(?)
p.(Cys146Arg)
-
pathogenic
g.15303014A>G
g.15192203A>G
-
-
NOTCH3_000021
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
4
c.437G>A
r.(?)
p.(Cys146Tyr)
-
VUS
g.15303013C>T
g.15192202C>T
-
-
NOTCH3_000140
-
PubMed: Malandrini 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/?
1
4
c.437G>T
r.(?)
p.(Cys146Phe)
-
pathogenic
g.15303013C>A
g.15192202C>A
-
-
NOTCH3_000022
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.445G>T
r.(?)
p.(Gly149Cys)
-
pathogenic
g.15303005C>A
g.15192194C>A
-
-
NOTCH3_000099
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.449A>G
r.(?)
p.(Tyr150Cys)
-
pathogenic
g.15303001T>C
g.15192190T>C
-
-
NOTCH3_000042
-
PubMed: Dichgans 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.457C>T
r.(?)
p.(Arg153Cys)
-
pathogenic
g.15302993G>A
g.15192182G>A
-
-
NOTCH3_000023
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/?
1
4
c.464G>A
r.(?)
p.(Cys155Tyr)
-
pathogenic
g.15302986C>T
g.15192175C>T
-
-
NOTCH3_000133
-
-
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.464G>C
r.(?)
p.(Cys155Ser)
-
pathogenic
g.15302986C>G
g.15192175C>G
-
-
NOTCH3_000100
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+?/., ?/.
2
-
c.472G>A
r.(?)
p.(Asp158Asn)
-
likely pathogenic, VUS
g.15302978C>T
g.15192167C>T
NOTCH3(NM_000435.2):c.472G>A (p.(Asp158Asn)), NOTCH3(NM_000435.2):c.472G>A(p.D158N)
-
NOTCH3_000401
VKGL data sharing initiative Nederland
PubMed: Sun 2018
-
-
CLASSIFICATION record, Germline/De novo (untested)
?
227
-
-
-
VKGL-NL_Leiden
+/+
1
4
c.484T>A
r.(?)
p.(Cys162Ser)
-
pathogenic
g.15302966A>T
g.15192155A>T
-
-
NOTCH3_000050
-
PubMed: Escary 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/.
1
-
c.485G>A
r.(?)
p.(Cys162Tyr)
-
pathogenic
g.15302965C>T
g.15192154C>T
NOTCH3(NM_000435.2):c.485G>A (p.(Cys162Tyr))
-
NOTCH3_000343
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/+, +/.
2
4
c.486C>G
r.(?)
p.(Cys162Trp)
-
pathogenic
g.15302964G>C
g.15192153G>C
NOTCH3(NM_000435.2):c.486C>G (p.(Cys162Trp))
-
NOTCH3_000056
VKGL data sharing initiative Nederland
PubMed: Lesnik Oberstein 2001
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
VKGL-NL_Leiden
+/+, +?/., ?/?
3
4
c.505C>T
r.(?)
p.(Arg169Cys)
-
likely pathogenic, pathogenic, VUS
g.15302945G>A
g.15192134G>A
NOTCH3(NM_000435.2):c.505C>T(R169C)
-
NOTCH3_000002
-
PubMed: Joutel 1997
OMIM:var0002
,
PubMed: Sun 2018
-
rs28933696
Germline, Germline/De novo (untested), Unknown
?
209
-
-
-
Global Variome, with Curator vacancy
,
Martine van Belzen
-?/.
5
-
c.509A>G
r.(?)
p.(His170Arg)
-
likely benign
g.15302941T>C
g.15192130T>C
NOTCH3(NM_000435.2):c.509A>G (p.(His170Arg)), NOTCH3(NM_000435.3):c.509A>G (p.H170R)
-
NOTCH3_000173
1 homozygous;
Clinindb (India)
, 14 heterozygous;
Clinindb (India)
,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs147373451
CLASSIFICATION record, Germline
-
1/2794 individuals, 14/2794 individuals
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
,
Mohammed Faruq
+/+
1
4
c.511G>T
r.(?)
p.(Gly171Cys)
-
pathogenic
g.15302939C>A
g.15192128C>A
-
-
NOTCH3_000024
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.520T>C
r.(?)
p.(Cys174Arg)
-
pathogenic
g.15302930A>G
g.15192119A>G
-
-
NOTCH3_000078
-
PubMed: Santa 2003
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.521G>A
r.(?)
p.(Cys174Tyr)
-
pathogenic
g.15302929C>T
g.15192118C>T
-
-
NOTCH3_000033
-
PubMed: Dichgans 1999
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.521G>T
r.(?)
p.(Cys174Phe)
-
pathogenic
g.15302929C>A
g.15192118C>A
-
-
NOTCH3_000054
-
PubMed: Kotorii 2001
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.539C>G
r.(?)
p.(Ser180Cys)
-
pathogenic
g.15302911G>C
g.15192100G>C
-
-
NOTCH3_000051
-
PubMed: Escary 2000
OMIM:var0003
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+, +/., +?/., ?/?
9
4
c.544C>T
r.(?)
p.(Arg182Cys)
ACMG
likely pathogenic, pathogenic, VUS
g.15302906G>A
g.15192095G>A
NOTCH3(NM_000435.2):c.544C>T (p.(Arg182Cys))
-
NOTCH3_000003, NOTCH3_000025
VKGL data sharing initiative Nederland,
1 more item
PubMed: Ganapathy 2019
,
PubMed: Joutel 1996
,
PubMed: Joutel 1997
,
PubMed: Joutel 2000
OMIM:var0003
-
rs28933697
CLASSIFICATION record, De novo, Germline, Unknown
-
-
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
,
Andreas Laner
,
Martine van Belzen
,
VKGL-NL_Leiden
,
VKGL-NL_Nijmegen
+/+, +?/.
2
4
c.547T>A
r.(?)
p.(Cys183Ser)
ACMG
pathogenic, pathogenic (dominant)
g.15302903A>T
g.15192092A>T
-
-
NOTCH3_000043
ACMG: PM1_STR, PM5_STR, PM2_SUP, PP2, PP3
PubMed: Dichgans 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Andreas Laner
+/+
1
4
c.547T>C
r.(?)
p.(Cys183Arg)
-
pathogenic
g.15302903A>G
g.15192092A>G
-
-
NOTCH3_000034
-
PubMed: Dichgans 1999
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+?/.
1
-
c.547_549dup
r.(?)
p.(Cys183dup)
-
likely pathogenic
g.15302903_15302905dup
g.15192092_15192094dup
-
-
NOTCH3_000388
-
-
-
-
Unknown
-
-
-
-
-
Gunnar Schmidt
+/+
1
4
c.548G>T
r.(?)
p.(Cys183Phe)
-
pathogenic
g.15302902C>A
g.15192091C>A
-
-
NOTCH3_000101
-
PubMed: Opherk 2004
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.553T>C
r.(?)
p.(Cys185Arg)
-
pathogenic
g.15302897A>G
g.15192086A>G
-
-
NOTCH3_000026
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.553T>G
r.(?)
p.(Cys185Gly)
-
pathogenic
g.15302897A>C
g.15192086A>C
-
-
NOTCH3_000027
-
PubMed: Joutel 1997
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/.
1
-
c.555T>A
r.(?)
p.(Cys185Ter)
-
VUS
g.15302895A>T
g.15192084A>T
NOTCH3(NM_000435.2):c.555T>A (p.(Cys185Ter))
-
NOTCH3_000342
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/+, +/.
2
4
c.566A>G
r.(?)
p.(Tyr189Cys)
-
pathogenic
g.15302884T>C
g.15192073T>C
NOTCH3(NM_000435.2):c.566A>G (p.(Tyr189Cys))
-
NOTCH3_000081
VKGL data sharing initiative Nederland
PubMed: Lesnik Oberstein 2003
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
VKGL-NL_Leiden
+/+
1
4
c.580T>A
r.(?)
p.(Cys194Ser)
-
pathogenic
g.15302870A>T
g.15192059A>T
-
-
NOTCH3_000074
-
PubMed: Markus 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.580T>C
r.(?)
p.(Cys194Arg)
-
pathogenic
g.15302870A>G
g.15192059A>G
-
-
NOTCH3_000068
-
PubMed: Kalimo 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.581G>A
r.(?)
p.(Cys194Tyr)
-
pathogenic
g.15302869C>T
g.15192058C>T
-
-
NOTCH3_000052
-
PubMed: Escary 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
4
c.581G>T
r.(?)
p.(Cys194Phe)
-
pathogenic
g.15302869C>A
g.15192058C>A
-
-
NOTCH3_000044
-
PubMed: Dichgans 2000
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-?/.
1
-
c.585G>A
r.(?)
p.(Glu195=)
-
likely benign
g.15302865C>T
g.15192054C>T
NOTCH3(NM_000435.3):c.585G>A (p.E195=)
-
NOTCH3_000283
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+?/+
1
4
c.601T>C
r.(?)
p.(Cys201Arg)
-
likely pathogenic
g.15302849A>G
g.15192038A>G
-
-
NOTCH3_000157
not found in 88 control chromosome
PubMed: Uyguner 2006
-
-
Germline
-
-
-
-
-
Judith Pagan
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