Global Variome shared LOVD
NF1 (neurofibromin 1)
LOVD v.3.0 Build 27 [
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Curator:
Rick van Minkelen
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Unique variants in the NF1 gene
The variants shown are described using the NM_000267.3 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
Type/DNA
: type of variant at DNA level. NOTE: can be derived automatically from the variant description (for all levels)
All options:
substitution
deletion
deletion, small
deletion, large
duplication
duplication, small
duplication, large
insertion
insertion, small
insertion, large
delins = insertion/deletion
inversion
conversion
transposition
translocation
other/complex
Predicted
: predicted consequence of variant (RNA/protein level)
All options:
missense
nonsense
frameshift
no-stop
silent
splicing affected
splicing affected, exon skipped
splicing affected?
deletion
deletion, small
deletion, large
deletion, exon
deletion, multi exon
duplication
duplication, small
duplication, large
insertion
insertion, small
insertion, large
delins = insertion/deletion
conversion
other/complex
P-domain
: region/domain protein affected
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.
3724 entries on 38 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type/DNA
Predicted
P-domain
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
_1_1i
c.-12763_60+3074del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.29409588_29425484del
g.31082570_31098466del
-12763_60+3074del15897 p.(Met1?)
-
NF1_001389
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+
1
_1_1i
c.-12290_60+5397del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.29410038_29427784del
g.31083020_31100766del
-12290_60+5397del17747 p.Met1?
-
NF1_000030
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+
1
_1_1i
c.-1614_60+1946del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.29420714_29424333del
g.31093696_31097315del
-1614_60+1946del3620 p.Met1?
-
NF1_000080
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+
1
_1_1i
c.-1614_60+3419del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.29420714_29425806del
g.31093696_31098788del
-1614_60+3419del5093 p.Met1?
-
NF1_000081
-
-
-
-
Germline
-
-
-
-
-
Rick van Minkelen
+/+
1
_1_1i
c.-1486_60+3546del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.29420842_29425933del
g.31093824_31098915del
-1486_60+3546del5092 p.(Met1?)
-
NF1_001837
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+
1
_1_1
c.-915_-262del
r.0?
p.0?
-
-
-
-
pathogenic
g.29421413_29422066del
g.31094395_31095048del
-
-
NF1_002259
-
-
-
-
Germline
-
-
-
-
-
Rick van Minkelen
+/+
1
-
c.-718_8375del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.29421610_29701091del
-
-
-
NF1_003723
-
PubMed: Santoro 2021
-
-
De novo
-
-
-
-
-
Giulio Piluso
?/?
2
1
c.-272G>A
r.(?)
p.(=)
substitution
other/complex
-
-
VUS
g.29422056G>A
g.31095038G>A
-
-
NF1_002232
-
-
-
-
Unknown
-
-
-
-
-
Glenda Beaman
?/?
1
1
c.-272G>C
r.(?)
p.(=)
substitution
other/complex
-
-
VUS
g.29422056G>C
g.31095038G>C
-
-
NF1_002233
-
-
-
-
Unknown
-
-
-
-
-
Glenda Beaman
-/.
1
-
c.-205_-204insT
r.(?)
p.(=)
-
-
-
-
benign
g.29422123_29422124insT
-
NF1(NM_000267.3):c.-205_-204insT
-
EVI2A_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
_1_58_
c.(?_-50)_(*68_?)del
r.0?
p.0?
deletion
deletion, large
-
ACMG
likely pathogenic
g.(?_29422278)_(29701241_?)del
-
-
-
NF1_002518
1 more item
-
-
-
Germline
?
-
-
-
-
Andreas Laner
?/., ?/?
3
1
c.-27C>T
r.(?)
p.(=), p.0?
substitution
splicing affected
-
-
VUS
g.29422301C>T
g.31095283C>T
NF1(NM_000267.3):c.-27C>T, p.Met1?
-
NF1_000250
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
-/-, -/.
2
1
c.-22G>C
r.(?)
p.(=), p.0?
substitution
-
-
-
benign
g.29422306G>C
g.31095288G>C
NF1(NM_000267.3):c.-22G>C, p.Met1?
-
NF1_001000
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+
4
_1_1i
c.(?_-1)_(60+1_61-1)del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.(?_29422327)_(29422388_29483000)del
-
1-?_60+?del
-
NF1_001687
Deletion of exon 1 and NF1 promotor
ND (Imbard, Submitted)
-
-
Germline, Unknown
-
-
-
-
-
Beatrice Parfait
+/+
1
_1_29i
c.(?_-1)_(3974+1_3975-1)del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.(?_29422327)_(29563040_29576001)del
-
1-?_3974+?del
-
NF1_001483
Deletion of exons 1 to 29
ND (Pasmant, Submitted)
-
-
Unknown
-
-
-
-
-
Beatrice Parfait
+/+
1
_1_35i
c.(?_-1)_(4661+1_4662-1)del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.(?_29422327)_(29588876_29592246)del
-
1-?_4661+?del
-
NF1_001688
Deletion of exons 1 to 35
ND (Imbard, Submitted)
-
-
De novo
-
-
-
-
-
Beatrice Parfait
+/+
98
_1_58_
c.(?_-1)_(*1_?)del
r.0?
p.0, p.0?
deletion, large
deletion, large
-
-
pathogenic
g.(?_29422327)_(29701174_?)del
-
-
-
NF1_000001
mosaic, patient with JMML
-
-
-
De novo, Germline, Somatic, Unknown
-
-
-
-
-
Rick van Minkelen
,
Kristina Karandasheva
+/+
2
31i_36i
c.(4110+4111-1)_(4772+1_4773-1)del
r.?
p.?
deletion, large, other/complex
deletion, large, other/complex
-
-
pathogenic
g.(29576138_29585361)_(29592358_29652837)del
-
4111-?_4772+?del;7127-?_8457+?del
-
NF1_001550
complex rearrangement with one copy of exons 32 to 36 and one copy of exons 49 to 58,
1 more item
ND (Imbard, Submitted), ND (Pasmant, Submitted)
-
-
Unknown
-
-
-
-
-
Beatrice Parfait
+/+
1
1
c.(?)
r.(?)
p.(?)
deletion
deletion, large
-
-
pathogenic
g.(27610791_29437821)del
-
Atypic deletion intron2 NUFIP2_intron1NF1
-
NF1_002861
1,8 Mb deletion (Array-CGH)
-
-
-
Germline
-
-
Meoli_NF1
-
-
Marica Eoli
?/+
1
_1_58_
c.-383_*3522[0]
r.0
p.0
deletion
deletion, large
-
-
pathogenic (dominant)
g.(28789443_29058391)_(30315433_30693753)del
-
complete gene deletion
-
NF1_002874
-
-
-
-
De novo
-
-
-
-
-
Lan Kluwe
+/.
1
_1_58_
c.-383_*3522{0}
r.0
p.0
-
-
-
ACMG
pathogenic
g.(?_29107486)_(30324390_?)del
-
-
-
NF1_003756
-
-
-
-
De novo
-
-
-
-
-
Andri Miltiadous
+/+
1
38i_40i
c.5546+336_5943+2xxdel
r.5547_5943del
p.Ser1850Leufs
deletion, large
deletion, large
-
-
pathogenic
g.?
-
-
-
NF1_001796
NHEJ or FoSTeS/MMBIR x 1, mosaic
PubMed: Hsiao 2015
-
-
Somatic
-
-
-
-
-
Ludwine Messiaen
+/+
1
38i_40i
c.5547-961+5943+2xxdel
r.5547_5943del
p.Ser1850Leufs
deletion, large
deletion, large
-
-
pathogenic
g.?
-
-
-
NF1_001797
NHEJ or FoSTeS/MMBIR x 1
PubMed: Hsiao 2015
-
-
De novo
-
-
-
-
-
Ludwine Messiaen
+/+
1
39i_40i
c.5749+750_5943+2xxdel
r.5750_5943del
p.Ser1917Asnfs
deletion, large
deletion, large
-
-
pathogenic
g.?
-
-
-
NF1_001799
NHEJ or FoSTeS/MMBIR x 1
PubMed: Hsiao 2015
-
-
De novo
-
-
-
-
-
Ludwine Messiaen
+/+
1
39i_40i
c.5750-1086_5943+2xxdel
r.5750_5943del
p.Ser1917Asnfs
deletion, large
deletion, large
-
-
pathogenic
g.?
-
-
-
NF1_001800
NHEJ or FoSTeS/MMBIR x 1
PubMed: Hsiao 2015
-
-
De novo
-
-
-
-
-
Ludwine Messiaen
+/+
1
39i_40i
c.5750-460_5943+2xxdel
r.5750_5943del
p.Ser1917Asnfs
deletion, large
deletion, large
-
-
pathogenic
g.?
-
-
-
NF1_001798
NHEJ or FoSTeS/MMBIR x 1, mosaic
PubMed: Hsiao 2015
-
-
Somatic
-
-
-
-
-
Ludwine Messiaen
+/+
1
40i_47i
c.5943+2xx_7000-999delinsN[15]
r.5750_6999del
p.Ser1917Lysfs
deletion, large
deletion, large
-
-
pathogenic
g.?
-
-
-
NF1_001805
Serial replication stalling
PubMed: Hsiao 2015
-
-
Germline
-
-
-
-
-
Ludwine Messiaen
+/+
1
_1_1i
c.?_(60+1_61-1)del
r.0?
p.0?
deletion, large
deletion, large
-
-
pathogenic
g.?_(29422388_29483000)del
-
?_60+?del
-
NF1_001738
-
ND (Bianchessi and Morosini, submitted)
-
-
Germline
-
-
-
-
-
Donatella Bianchessi
+/+
1
1i_3i
c.[61-2014_289-890del(;)205-683-205-261inv]
r.(?)
p.?
other/complex
other/complex
-
-
pathogenic
g.?
-
[61-2014_289-890del8328(;)205-683-205-261inv423]
-
NF1_001387
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+
1
1i_8i
c.[61-24784_775delinsN[4];586+5343_586+5959inv]
r.(?)
p.?
other/complex
other/complex
-
-
pathogenic
g.?
-
[61-24784_775del51354ins4;586+5343_586+5959inv617]
-
NF1_000003
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+, +/.
7
1
c.1A>G
r.(?), r.1a>g
p.(Met1?), p.0?
substitution
missense
-
-
pathogenic
g.29422328A>G
g.31095310A>G
(Met1Val), Met1?, NF1(NM_000267.3):c.1A>G (p.M1?)
-
NF1_000140
VKGL data sharing initiative Nederland
PubMed: Brinckmann 2007
-
-
CLASSIFICATION record, De novo, Germline, Unknown
-
-
-
-
-
Beatrice Parfait
,
Rick van Minkelen
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
+/+
1
1
c.1A>T
r.(?)
p.0?
-
-
-
-
pathogenic
g.29422328A>T
g.31095310A>T
-
-
NF1_002260
-
-
-
-
Germline
-
-
-
-
-
Rick van Minkelen
+?/+?, ?/.
2
1
c.2T>A
r.(?)
p.(Met1?), p.0?
substitution
missense
-
-
VUS
g.29422329T>A
g.31095311T>A
(Met1Lys), NF1(NM_000267.3):c.2T>A (p.M1?)
-
NF1_001861
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+
1
1
c.3G>A
r.3g>a
p.0?
substitution
-
-
-
pathogenic
g.29422330G>A
g.31095312G>A
Met1?
-
NF1_001130
-
PubMed: Sabbagh 2013
-
-
Germline
-
-
-
-
-
Beatrice Parfait
+/+
1
1
c.3G>T
r.3g>u
p.0?
substitution
-
-
-
pathogenic
g.29422330G>T
g.31095312G>T
Met1?
-
NF1_001131
-
PubMed: Sabbagh 2013
-
-
Germline
-
-
-
-
-
Beatrice Parfait
?/.
1
1
c.10C>T
r.(?)
p.(His4Tyr)
-
-
-
-
VUS
g.29422337C>T
g.31095319C>T
-
-
NF1_002530
not in 11241 controls
PubMed: Momozawa 2018
,
Journal: Momozawa 2018
-
-
Germline
-
1/7051 cases breast cancer
-
-
-
Yukihide Momozawa
-/.
1
1
c.12C>A
r.(?)
p.(His4Gln)
-
-
-
-
benign
g.29422339C>A
g.31095321C>A
-
-
NF1_002531
not in 11241 controls
PubMed: Momozawa 2018
,
Journal: Momozawa 2018
-
-
Germline
-
2/7051 cases breast cancer
-
-
-
Yukihide Momozawa
-/-
2
1
c.13G>C
r.(?)
p.(Ala5Pro)
substitution
missense
-
-
benign
g.29422340G>C
g.31095322G>C
-
-
NF1_000972
1 more item
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
?/.
1
-
c.15G>A
r.(?)
p.(=)
-
-
-
-
VUS
g.29422342G>A
g.31095324G>A
-
-
NF1_002532
-
PubMed: Momozawa 2018
,
Journal: Momozawa 2018
-
-
Germline
-
1/12483 controls
-
-
-
Yukihide Momozawa
+/+, +/.
2
1
c.20_21dup
r.(?)
p.(Glu8fs), p.(Glu8TrpfsTer17)
duplication
frameshift
-
-
pathogenic
g.29422347_29422348dup
g.31095329_31095330dup
20_21dupTG, NF1(NM_000267.3):c.20_21dupTG (p.E8Wfs*17)
-
NF1_000141
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+
1
1
c.21_22del
r.(?)
p.Glu8fs
deletion
frameshift
-
-
pathogenic
g.29422348_29422349del
g.31095330_31095331del
21_22delGG
-
NF1_001602
-
-
-
-
Germline
-
-
-
-
-
Sara Morosini
+/+, +/.
3
1
c.27G>A
r.(?)
p.(Trp9*), p.(Trp9Ter)
substitution
nonsense
-
-
pathogenic
g.29422354G>A
g.31095336G>A
NF1(NM_000267.3):c.27G>A (p.W9*)
-
NF1_000251
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+, +/.
5
1
c.31C>T
r.(?)
p.(Gln11*), p.(Gln11Ter)
substitution
nonsense
-
-
pathogenic
g.29422358C>T
g.31095340C>T
NF1(NM_000267.3):c.31C>T (p.Q11*)
-
NF1_000326
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
?/.
1
-
c.35C>T
r.(?)
p.(Ala12Val)
-
-
-
-
VUS
g.29422362C>T
g.31095344C>T
-
-
NF1_002533
-
PubMed: Momozawa 2018
,
Journal: Momozawa 2018
-
-
Germline
-
1/12483 controls
-
-
-
Yukihide Momozawa
?/.
1
-
c.40G>T
r.(?)
p.(Val14Phe)
-
-
-
-
NA
g.29422367G>T
-
chr17_29422367_G_T
-
NF1_003014
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
BRIDGES consortium
+/+, +/.
4
1
c.47G>C
r.(?)
p.(Arg16Pro)
substitution
missense
-
-
pathogenic
g.29422374G>C
g.31095356G>C
NF1(NM_000267.3):c.47G>C (p.R16P)
-
NF1_000564
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, De novo, Germline, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
?/., ?/?
2
1
c.50T>C
r.(?)
p.(Phe17Ser)
substitution
missense
-
-
VUS
g.29422377T>C
g.31095359T>C
NF1(NM_000267.3):c.50T>C (p.F17S)
-
NF1_000615
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+, +/.
8
1
c.55G>T
r.(?)
p.(Glu19*), p.(Glu19Ter)
substitution
nonsense
-
-
pathogenic
g.29422382G>T
g.31095364G>T
NF1(NM_000267.3):c.55G>T (p.E19*)
-
NF1_000683
1 heterozygous, no homozygous;
Clinindb (India)
, VKGL data sharing initiative Nederland
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs786203307
CLASSIFICATION record, De novo, Germline, Unknown
-
1/2795 individuals
-
-
-
Glenda Beaman
,
Rick van Minkelen
,
VKGL-NL_Rotterdam
,
Mohammed Faruq
+/+, +/.
3
1
c.58C>T
r.(?), r.[58c>u, 57_60del]
p.(Gln20Ter), p.[Glu19fs,Gln20*]
substitution
frameshift;nonsense, nonsense;frameshift
-
-
pathogenic
g.29422385C>T
g.31095367C>T
NF1(NM_000267.3):c.58C>T (p.Q20*)
-
NF1_000727
VKGL data sharing initiative Nederland,
1 more item
PubMed: Pros 2008
-
-
CLASSIFICATION record, De novo, Unknown
-
-
-
-
-
Beatrice Parfait
,
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+, +/.
3
1i
c.60+1G>A
r.spl, r.spl?
p.?
substitution
splicing affected
-
-
pathogenic
g.29422388G>A
g.31095370G>A
NF1(NM_000267.3):c.60+1G>A
-
NF1_000733
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, De novo, Germline
-
-
-
-
-
Glenda Beaman
,
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+, +/.
2
1i
c.60+1G>T
r.spl, r.spl?
p.?
substitution
splicing affected
-
-
pathogenic
g.29422388G>T
g.31095370G>T
NF1(NM_000267.3):c.60+1G>T
-
NF1_000734
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+, +/.
2
1i
c.60+2T>C
r.spl, r.spl?
p.?
substitution
splicing affected
-
-
pathogenic
g.29422389T>C
g.31095371T>C
NF1(NM_000267.3):c.60+2T>C
-
NF1_000735
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+, +/.
2
1i
c.60+2T>G
r.spl, r.spl?
p.?
substitution
splicing affected
-
-
pathogenic
g.29422389T>G
g.31095371T>G
NF1(NM_000267.3):c.60+2T>G
-
NF1_000736
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
-/-, -/.
2
1i
c.60+15G>A
r.(=), r.(?)
p.(=)
substitution
splicing affected
-
-
benign
g.29422402G>A
g.31095384G>A
60+15G/A, NF1(NM_000267.3):c.60+15G>A
-
NF1_001063
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
-?/.
1
-
c.60+67G>A
r.(=)
p.(=)
-
-
-
-
likely benign
g.29422454G>A
-
NF1(NM_001042492.2):c.60+67G>A
-
EVI2A_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_NKI
+/+
1
1i_29i
c.60+3120_3975-326del
r.61_3974del
p.Leu21Valfs
deletion, large
deletion, large
-
-
pathogenic
g.29425507_29575676del
g.31098489_31248658del
60+3120_3975-326del
-
NF1_001744
Alu-mediated NAHR
PubMed: Hsiao 2015
-
-
Germline
-
-
-
-
-
Ludwine Messiaen
+/+
1
1i
c.60+9033_60+9037del
r.60_61ins60+8962_60+9030
p.Gln20_Leu21ins23
deletion
other/complex
-
-
pathogenic
g.29431420_29431424del
g.31104402_31104406del
60+9032_60+9036del5
-
NF1_001129
Deletion = AAGTT ? Insertion of a cryptic exon (69 bp in frame)
PubMed: Sabbagh 2013
-
-
Germline
-
-
-
-
-
Beatrice Parfait
+/+
1
1i_5i
c.60+24136_587-5022del
r.61_586del
p.Leu21Lysfs
deletion, large
deletion, large
-
-
pathogenic
g.29446523_29503418del
g.31119505_31176400del
-
-
NF1_001743
L1-mediated NAHR
PubMed: Hsiao 2015
-
-
De novo
-
-
-
-
-
Ludwine Messiaen
+/+
1
1i_8i
c.61-39291_888+11287del
r.(?)
p.?
deletion, large
deletion, large
-
-
pathogenic
g.29443710_29520970del
g.31116692_31193952del
61-39291_888+11287del77253
-
NF1_000745
1 more item
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+
1
1i_33i
c.61-28254_4367+32del
r.(?)
p.?
deletion, large
deletion, large
-
-
pathogenic
g.29454747_29586179del
g.31127729_31259161del
61-28254_4367+32del31433
-
NF1_000744
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+
1
1i_4i
c.61-16315_479+99del
r.61_479del
p.Leu21Valfs
deletion, large
deletion, large
-
-
pathogenic
g.29466686_29490493del
g.31139668_31163475del
-
-
NF1_001742
NHEJ or FoSTeS/MMBIR x 1
PubMed: Hsiao 2015
-
-
Unknown
-
-
-
-
-
Ludwine Messiaen
+/+
1
1i
c.61-12088_204+933del
r.61_204del
p.Leu21_Met68del48
deletion, large
deletion, large
-
-
pathogenic
g.29470913_29484077del
g.31143895_31157059del
61-12088_204+933del
-
NF1_001741
Alu-mediated NAHR
PubMed: Hsiao 2015
-
-
Germline
-
-
-
-
-
Ludwine Messiaen
+/+
1
1i_11i
c.61-10453_1261-2029dup
r.?
p.?
other/complex
other/complex
-
-
pathogenic
g.29472548_29531229dup
g.31145530_31204211dup
61-10453_1261-2029dup34770
-
NF1_000002
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
+/+
1
1i_16i
c.61-10302_1845+963del
r.(?)
p.?
deletion, large
deletion, large
-
-
pathogenic
g.29472699_29551548del
g.31145681_31224530del
61-10302_1845+963del78850
-
NF1_000741
1 more item
-
-
-
De novo
-
-
-
-
-
Rick van Minkelen
+/+
2
1i
c.61-7486G>T
r.60-61ins61-7565_61-7492
p.Gln20_Leu21insThr*
substitution
other/complex
-
-
pathogenic
g.29475515G>T
g.31148497G>T
-
-
NF1_001132
Insertion of a cryptic exon (74 bp out of frame)
PubMed: Sabbagh 2013
-
-
Unknown
-
-
-
-
-
Beatrice Parfait
+/+
1
1i_2i
c.61-6522_204+1022dup
r.61_204dup
p.Leu21_Met68dup48
duplication, large
duplication, large
-
-
pathogenic
g.29476479_29484166dup
g.31149461_31157148dup
-
-
NF1_001812
Alu-mediated NAHR
PubMed: Hsiao 2015
-
-
De novo
-
-
-
-
-
Ludwine Messiaen
+/+
3
1i_2i
c.61-5185_205-1285del
r.61_204del
p.Leu21_Met68del48
deletion, large
deletion, large
-
-
pathogenic
g.29477816_29484743del
g.31150798_31157725del
61-5185_205-1285del
-
NF1_001740
Alu-mediated NAHR
PubMed: Hsiao 2015
-
-
De novo, Germline
-
-
-
-
-
Ludwine Messiaen
+/+
1
1i_2i
c.61-1737_204+1051del
r.(?)
p.?
deletion, large
deletion, large
-
-
pathogenic
g.29481264_29484195del
g.31154246_31157177del
61-1737_204+1051del2932
-
NF1_001403
-
-
-
-
Unknown
-
-
-
-
-
Rick van Minkelen
-/.
1
-
c.61-123G>A
r.(=)
p.(=)
-
-
-
-
benign
g.29482878G>A
-
-
-
EVI2A_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/-?, -?/.
2
1i
c.61-14dup
r.(=)
p.(=)
duplication
splicing affected
-
-
likely benign
g.29482987dup
g.31155969dup
61-14dupT, NF1(NM_000267.3):c.61-14dupT
-
NF1_001922, NF1_002326
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+, +/.
3
1i
c.61-10_61-1del
r.(?), r.spl?
p.?
deletion
splicing affected
-
-
pathogenic
g.29482991_29483000del
g.31155973_31155982del
61-10_61-1del10, NF1(NM_000267.3):c.61-10_61-1delTTTTTTTCAG
-
NF1_000740
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
-/-, -/., -?/.
4
1i
c.61-4del
r.(?), r.spl?
p.?
deletion
splicing affected
-
-
benign, likely benign
g.29482997del
g.31155979del
61-4delT, NF1(NM_000267.3):c.61-4delT, NF1(NM_001042492.2):c.61-4delT
-
NF1_001065, NF1_002327
VKGL data sharing initiative Nederland
PubMed: Mattocks 2004
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_VUmc
+/+
1
1i
c.61-2A>C
r.spl
p.?
substitution
splicing affected
-
-
pathogenic
g.29482999A>C
g.31155981A>C
-
-
NF1_001997
-
(Cali, Submitted)
-
-
Unknown
-
-
-
-
-
Francesco Cali
+/+, +/.
4
1i
c.61-2A>G
r.61_76del, r.spl, r.spl?
p.?, p.Leu21fs
substitution
splicing affected
-
-
pathogenic
g.29482999A>G
g.31155981A>G
NF1(NM_000267.3):c.61-2A>G
-
NF1_001139
Inactivation of the authentic 3'ss, use of a cryptic site in exon 2 with deletion of the first 16nt,
1 more item
PubMed: Pros 2008
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Beatrice Parfait
,
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+
1
1i
c.61-1G>A
r.61_76del
p.Leu21fs
substitution
splicing affected
-
-
pathogenic
g.29483000G>A
g.31155982G>A
-
-
NF1_001138
Inactivation of the authentic 3'ss, use of a cryptic site in exon 2 with deletion of the first 16nt
PubMed: Bausch 2007
-
-
Unknown
-
-
-
-
-
Beatrice Parfait
+/+, +/.
3
1i
c.61-1G>C
r.spl, r.spl?
p.?
substitution
splicing affected
-
-
pathogenic
g.29483000G>C
g.31155982G>C
NF1(NM_000267.3):c.61-1G>C
-
NF1_000742
VKGL data sharing initiative Nederland
ND (Pasmant, Submitted)
-
-
CLASSIFICATION record, Germline, Unknown
-
-
-
-
-
Beatrice Parfait
,
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+
3
1i_2i
c.(60+1_61-1)_(204+1_205-1)del
r.61_204del
p.Leu21_Met68del
deletion, large
deletion, large
-
-
pathogenic
g.(29422388_29483000)_(29483145_29486027)del, g.29483001_29483144del
-
61-?_204+?del
-
NF1_001689, NF1_002236, NF1_002237
Deletion of exon 2,
1 more item
ND (Imbard, Submitted)
-
-
Germline, Unknown
-
-
-
-
-
Beatrice Parfait
,
Glenda Beaman
?/?
1
1i_5i
c.(60+1_61-1)_(586+1_587-1)dup
r.?
p.?
duplication
duplication
-
-
pathogenic (dominant)
g.(29422388_29483000)_(29497016_29508439)dup
g.(31095370_31155982)_(31169998_31181421)dup
ex2-5 duplication, 61_586dup
-
NF1_003728
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
Andri Miltiadous
+/+
1
1i_48i
c.(60+1_61-1)_(7126+1_7127-1)del
r.(?)
p.?
deletion, large
deletion, large
-
-
pathogenic
g.(29422388_29483000)_(29670154_29676137)del
-
61-?_7126+?del
-
NF1_001692
Deletion of exons 2 to 48
ND (Imbard, Submitted)
-
-
Unknown
-
-
-
-
-
Beatrice Parfait
+/+
1
2
c.62T>C
r.62u>c
p.Leu21Pro
substitution
missense
-
-
pathogenic
g.29483002T>C
g.31155984T>C
-
-
NF1_001137
-
PubMed: Sabbagh 2013
-
-
De novo
-
-
-
-
-
Beatrice Parfait
?/.
1
-
c.64C>G
r.(?)
p.(Pro22Ala)
-
-
-
-
NA
g.29483004C>G
-
chr17_29483004_C_G
-
NF1_003015
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/53461 controls
-
-
-
BRIDGES consortium
?/.
1
-
c.67A>G
r.(?)
p.(Ile23Val)
-
-
-
-
NA
g.29483007A>G
-
chr17_29483007_A_G
-
NF1_003016
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/53461 controls
-
-
-
BRIDGES consortium
+?/+?
1
2
c.68delinsAC
r.(?)
p.(Ile23Asnfs*15)
delins
frameshift
-
-
pathogenic
g.29483008delinsAC
g.31155990delinsAC
-
-
NF1_003725
-
-
-
-
Germline
-
-
-
-
-
Andri Miltiadous
+/+
1
1i-33/34
c.(60+598_92)_(4349_4433)del
r.?
p.?
deletion, large
-
-
-
pathogenic
g.(29422985_29483032)_(29586129_29587452)del
-
-
-
NF1_002527
-
-
-
-
Germline
-
-
-
-
-
Carlijn Brekelmans
+/+, +/.
2
2
c.81_82delinsAT
r.(?)
p.(Gln28*), p.(Gln28Ter)
delins
nonsense
-
-
pathogenic
g.29483021_29483022delinsAT
g.31156003_31156004delinsAT
81_82delGCinsAT, NF1(NM_000267.3):c.81_82delGCinsAT (p.Q28*)
-
NF1_000930
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
+/+, +/.
2
2
c.82C>T
r.(?)
p.(Gln28*), p.(Gln28Ter)
substitution
nonsense
-
-
pathogenic
g.29483022C>T
g.31156004C>T
NF1(NM_000267.3):c.82C>T (p.Q28*)
-
NF1_000933
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, De novo
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
?/.
2
-
c.83A>C
r.(?)
p.(Gln28Pro)
-
-
-
-
NA
g.29483023A>C
-
chr17_29483023_A_C
-
NF1_003017
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/60466 cases, 2/53461 controls
-
-
-
BRIDGES consortium
?/.
1
-
c.85A>G
r.(?)
p.(Asn29Asp)
-
-
-
-
NA
g.29483025A>G
-
chr17_29483025_A_G
-
NF1_003018
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
BRIDGES consortium
?/.
2
-
c.86A>G
r.(?)
p.(Asn29Ser)
-
-
-
-
NA
g.29483026A>G
-
chr17_29483026_A_G
-
NF1_003019
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/53461 controls, 1/60466 cases
-
-
-
BRIDGES consortium
?/.
2
-
c.91C>T
r.(?)
p.(His31Tyr)
-
-
-
-
NA
g.29483031C>T
-
chr17_29483031_C_T
-
NF1_003020
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/53461 controls, 1/60466 cases
-
-
-
BRIDGES consortium
+/.
1
2
c.91_103del
r.91_103del
p.His31Valfs*9
-
-
-
-
pathogenic
g.29483031_29483043del
g.31156013_31156025del
89-101del13
-
NF1_002875
-
PubMed: Ars 2003
,
PubMed: Pros 2008
-
-
Germline/De novo (untested)
-
1/374 cases NF
-
-
-
Johan den Dunnen
?/.
1
-
c.92A>G
r.(?)
p.(His31Arg)
-
-
-
-
NA
g.29483032A>G
-
chr17_29483032_A_G
-
NF1_003021
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/53461 controls
-
-
-
BRIDGES consortium
+/+, +/.
2
2
c.94dup
r.(?)
p.(Thr32AsnfsTer6), p.(Thr32fs)
duplication
frameshift
-
-
pathogenic
g.29483034dup
g.31156016dup
94dupA, NF1(NM_000267.3):c.94dupA (p.T32Nfs*6)
-
NF1_000951
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, De novo
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
?/.
1
-
c.95C>A
r.(?)
p.(Thr32Asn)
-
-
-
-
NA
g.29483035C>A
-
chr17_29483035_C_A
-
NF1_003022
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/53461 controls
-
-
-
BRIDGES consortium
+/+, +/.
2
2
c.95_99del
r.(?)
p.(Thr32fs), p.(Thr32SerfsTer4)
deletion
frameshift
-
-
pathogenic
g.29483035_29483039del
g.31156017_31156021del
95_99del5, NF1(NM_000267.3):c.95_99delCCAAA (p.T32Sfs*4)
-
NF1_000952
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
Rick van Minkelen
,
VKGL-NL_Rotterdam
-?/-?
1
2
c.99A>G
r.(?)
p.(=)
substitution
silent
-
-
likely benign
g.29483039A>G
g.31156021A>G
-
-
NF1_001610
-
-
-
-
Germline
-
-
-
-
-
Marica Eoli
+/+
1
2
c.102_204+2del
r.(?)
p.(Ser35Glufs)
deletion, large
frameshift
-
-
pathogenic
g.29483042_29483146del
g.31156024_31156128del
-
-
NF1_002213
-
-
-
-
De novo
-
-
-
-
-
Glenda Beaman
?/.
1
-
c.103A>G
r.(?)
p.(Ser35Gly)
-
-
-
-
NA
g.29483043A>G
-
chr17_29483043_A_G
-
NF1_003023
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
-
-
Germline
-
1/60466 cases
-
-
-
BRIDGES consortium
-?/., ?/., ?/?
5
2
c.107C>G
r.(?)
p.(Thr36Ser)
substitution
nonsense
-
-
likely benign, NA, VUS
g.29483047C>G
g.31156029C>G
chr17_29483047_C_G, NF1(NM_001042492.2):c.107C>G (p.T36S)
-
NF1_002247
VKGL data sharing initiative Nederland,
1 more item
PubMed: Dorling 2021
,
Journal: Dorling 2021
,
PubMed: Trujillano 2017
-
-
CLASSIFICATION record, Germline
-
15/60466 cases, 24/53461 controls
-
-
-
Daniel Trujillano
,
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
,
BRIDGES consortium
+/+
1
2
c.113_115delinsN[7]
r.(?)
p.(His38fs)
delins
frameshift
-
-
pathogenic
g.29483053_29483055delinsN[7]
-
113_115delACAins7
-
NF1_000015
-
-
-
-
Germline
-
-
-
-
-
Rick van Minkelen
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