Global Variome shared LOVD
BMPR1A (bone morphogenetic protein receptor, type IA)
LOVD v.3.0 Build 28d [
Current LOVD status
]
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Curators:
Karl Heinimann
,
Robert Blatter
, and
Benjamin Tschupp
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Unique variants in the BMPR1A gene
The variants shown are described using the NM_004329.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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164 entries on 2 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Owner
+/.
1
_1_3i
c.(?_-119300)_(67+1_68-1)del
r.0?
p.0?
-
pathogenic (dominant)
g.(?_88397644)_(88635843_88649818)del
-
‐119300‐?_67+?del
-
BMPR1A_000106
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
_1_13_
c.(?_-119300)_(*1469_?)del
r.0
p.0
-
pathogenic (dominant)
g.(?_88397644)_(89728532_?)del
-
BMPR1A,‐119300‐?_1599+?del + PTEN,1‐?_1212+?del
-
BMPR1A_000107
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.-1077T>C
r.(?)
p.(=)
-
likely benign
g.88515867T>C
g.86756110T>C
BMPR1A(NM_004329.3):c.-1077T>C
-
BMPR1A_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.-1063G>C
r.(?)
p.(=)
-
benign
g.88515881G>C
g.86756124G>C
BMPR1A(NM_004329.3):c.-1063G>C
-
BMPR1A_000137
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.-978G>A
r.(?)
p.(=)
-
benign
g.88515966G>A
g.86756209G>A
BMPR1A(NM_004329.3):c.-978G>A
-
BMPR1A_000138
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.-934G>A
r.(?)
p.(=)
-
benign
g.88516010G>A
g.86756253G>A
BMPR1A(NM_004329.3):c.-934G>A
-
BMPR1A_000139
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.-876G>T
r.(?)
p.(=)
-
likely benign
g.88516068G>T
g.86756311G>T
BMPR1A(NM_004329.3):c.-876G>T
-
BMPR1A_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.-854G>C
r.(?)
p.(=)
-
benign
g.88516090G>C
g.86756333G>C
BMPR1A(NM_004329.3):c.-854G>C
-
BMPR1A_000141
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.-785T>C
r.(?)
p.(=)
-
likely benign
g.88516159T>C
g.86756402T>C
BMPR1A(NM_004329.3):c.-785T>C
-
BMPR1A_000158
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.-774T>G
r.(?)
p.(=)
-
benign
g.88516170T>G
g.86756413T>G
BMPR1A(NM_004329.3):c.-774T>G
-
BMPR1A_000142
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.-658C>T
r.(?)
p.(=)
-
likely benign
g.88516286C>T
g.86756529C>T
BMPR1A(NM_004329.3):c.-658C>T
-
BMPR1A_000143
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.-602C>T
r.(?)
p.(=)
-
benign
g.88516342C>T
g.86756585C>T
BMPR1A(NM_004329.3):c.-602C>T
-
BMPR1A_000144
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/+, ?/?
2
_1_1i
c.(?_-548)_(-268+1_-267-1)del
r.0?
p.0?
ACMG
VUS
g.(?_88516396)_(88516677_88598621)del
-
del promotor_first non-coding exon
-
BMPR1A_000108
ACMG PVS1, ACMG PVS1, PS2
Journal: Barros 2009
,
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
14
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+, ?/+
11
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic, VUS
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PM2, ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+, ?/+, ?/?
16
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
pathogenic, VUS
g.(?_88516396)_(88684945_?)del
-
1-?_1599del?, 10q23 deletion, 10q23del and 1p31.3del, 46,XX del(10)(q22.3q23.33)dn,
9 more items
-
BMPR1A_000111
ACMG PVS1, ACMG PVS1, PM2, ACMG PVS1, PM2, PS2, ACMG PVS1, PS2
Journal: Dadaleh 2012
,
Journal: Hiljadnikova Bajro 2013
,
Journal: Menko 2008
,
Journal: Ngeow 2013
,
5 more items
-
-
De novo, Germline, Germline/De novo (untested)
-
-
-
-
-
Karl Heinimann
-?/.
1
-
c.-547C>T
r.(?)
p.(=)
-
likely benign
g.88516397C>T
g.86756640C>T
BMPR1A(NM_004329.3):c.-547C>T
-
BMPR1A_000145
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
1
2i_3i
c.(-153+1_-152-1)_(67+1_68-1)del
p.0?
p.0?
-
pathogenic (dominant)
g.(88598737_88635623)_(88635843_88649818)del
-
‐50‐?_67+?del
-
BMPR1A_000112
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
-
c.-25A>G
r.(=)
p.(=)
-
benign
g.88635751A>G
g.86875994A>G
-
-
BMPR1A_000007
-
-
-
rs116346662
Germline
-
-
-
-
-
Andreas Laner
?/+
3
3
c.-24_-14del
r.(?)
p.(?)
ACMG
VUS
g.88635752_88635762del
g.86875995_86876005del
ex2 11 bp del
-
BMPR1A_000113
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+, ?/+
5
1_13_, _1_13_
c.0
r.0
p.0
ACMG
pathogenic, VUS
g.(82000001_87900000)_(99300001_101900000)del, g.(?_88450000)_(89750000_?)del,
2 more items
-
46,XX,del(10)(q23.1q24.2), >1.2Mb del BMPR1A/PTEN, del entire BMPR1a and PTEN genes,
1 more item
46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2)
BMPR1A_000105
ACMG PVS1, ACMG PVS1, PM2, ACMG PVS1, PS2 82000001_101900000, ACMG PVS1, PS2,
1 more item
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
PubMed: Delnatte 2006
,
2 more items
-
-
De novo, Germline
-
-
-
-
-
Karl Heinimann
?/.
1
-
c.?
r.(?)
p.(Phe397Ser)
-
VUS
g.?
-
-
-
CYP2C9_001038
-
PubMed: Heidet 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/+
1
3
c.1A>C
r.0?
p.0?
-
VUS
g.88635776A>C
g.86876019A>C
M1L
-
BMPR1A_000059
-
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+?/.
1
-
c.3G>A
r.(?)
p.(Met1?)
-
likely pathogenic
g.88635778G>A
g.86876021G>A
-
-
BMPR1A_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
3
-
c.4C>A
r.(?)
p.(Pro2Thr)
-
benign
g.88635779C>A
g.86876022C>A
BMPR1A(NM_004329.2):c.4C>A (p.P2T), BMPR1A(NM_004329.3):c.4C>A (p.P2T)
-
BMPR1A_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/+
29
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT, 44_47delTGTT, 44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3, ACMG PVS1, PM2, PM4, PP3
Journal: Ngeow 2013
,
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
3 more items
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
?/+
1
3i
c.67+1G>T
r.spl
p.?
-
VUS
g.88635843G>T
g.86876086G>T
IVS1+1G>T
-
BMPR1A_000100
-
PubMed: Sweet 2005
,
Journal: Sweet 2005
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/., +?/.
2
-
c.67+2T>C
r.spl?
p.?
-
likely pathogenic, pathogenic
g.88635844T>C
g.86876087T>C
-
-
BMPR1A_000092
disruptive variant
PubMed: Baert-Desurmont 2018
-
-
Germline
-
-
-
-
-
Stephanie Baert-Desurmont
?/+
1
3i_4
c.68-10_68+14del
r.?
p.?
ACMG
VUS
g.88649809_88649833del
-
-
-
BMPR1A_000114
1 more item
PubMed: Nieminen 2011
,
Journal: Nieminen 2011
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
1
3i
c.68-3C>G
r.spl?
p.?
-
pathogenic
g.88649816C>G
g.86890059C>G
IVS1-3C>G
-
BMPR1A_000103
-
PubMed: Zhou 2001
,
Journal: Zhou 2001
-
-
Germline/De novo (untested)
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
8
4
c.70C>T
r.(?)
p.(Gln24*)
ACMG
pathogenic
g.88649821C>T
g.86890064C>T
-
-
BMPR1A_000061
ACMG PVS1, PM2, PM4, PP3
PubMed: O'Riordan 2010
,
Journal: O'Riordan 2010
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
./.
1
-
c.74A>G
r.(?)
p.(Asn25Ser)
-
VUS
g.88649825A>G
g.86890068A>G
-
-
BMPR1A_000068
-
Thibodeau lab (Mayo Clinic)
-
-
Germline
-
-
-
-
-
Melissa DeRycke
./.
1
-
c.83G>A
r.(?)
p.(Ser28Asn)
-
VUS
g.88649834G>A
g.86890077G>A
-
-
BMPR1A_000066
-
Thibodeau lab (Mayo Clinic)
-
-
Germline
-
-
-
-
-
Melissa DeRycke
+/+
5
4
c.127_137del
r.(?)
p.(Lys43Trpfs*24)
ACMG
pathogenic
g.88649878_88649888del
g.86890121_86890131del
127_137delAAGTCAGAAAA, ex2 11 bp del
-
BMPR1A_000062
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
,
PubMed: Cao 2006
,
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
+/+
1
4
c.131C>G
r.(?)
p.(Ser44*)
-
pathogenic
g.88649882C>G
g.86890125C>G
S44X
-
BMPR1A_000058
-
PubMed: Zhou 2001
,
Journal: Zhou 2001
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
12
4
c.170C>G
r.(?)
p.(Pro57Arg)
ACMG
VUS
g.88649921C>G
g.86890164C>G
-
-
BMPR1A_000033
ACMG PM2, PP3
Journal: Lynch 2004
,
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
1 more item
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
?/+
1
4
c.176del
r.(?)
p.(Leu59*)
ACMG
VUS
g.88649927del
g.86890170del
176delT
-
BMPR1A_000115
ACMG PVS1, PM2, PM4, PP3
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/?
5
4
c.184T>G
r.(?)
p.(Tyr62Asp)
ACMG
VUS
g.88649935T>G
g.86890178T>G
-
-
BMPR1A_000034
ACMG PM2, PP3
Journal: Lynch 2004
,
PubMed: Howe 2004
,
Journal: Howe 2004
,
PubMed: Sayed 2002
,
Journal: Sayed 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
+/.
1
-
c.189C>A
r.(?)
p.(Cys63Ter)
-
pathogenic
g.88649940C>A
g.86890183C>A
-
-
BMPR1A_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.198C>T
r.(?)
p.(His66=)
-
likely benign
g.88649949C>T
g.86890192C>T
BMPR1A(NM_004329.3):c.198C>T (p.H66=)
-
BMPR1A_000146
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/+
1
4
c.218dup
r.(?)
p.(Asn73Lysfs*2)
ACMG
pathogenic
g.88649969dup
g.86890212dup
218dupA
-
BMPR1A_000116
ACMG PVS1, PM2, PM4, PP3, PP5
Journal: Mongin 2012
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
1
4i_5i
c.230+452_333+441dup
r.?
p.(Asp112Asnfs*2)
ACMG
pathogenic
g.88650433_88652427dup
g.86890676_86892670dup
(230+452_333+441dup1995)
-
BMPR1A_000117
ACMG PVS1, PM2, PM4, PP3
Journal: Yamaguchi 2014
-
-
Germline/De novo (untested)
-
-
-
-
-
Karl Heinimann
?/.
1
-
c.231-1G>A
r.spl
p.?
-
pathogenic
g.88651883G>A
g.86892126G>A
-
-
BMPR1A_000166
-
PubMed: Jiang 2022
-
-
Germline/De novo (untested)
-
1/486 cases
-
-
-
Johan den Dunnen
?/?
6
5
c.233C>T
r.(?)
p.(Thr78Ile)
ACMG
VUS
g.88651886C>T
g.86892129C>T
missense C to T (T78I) mutation at codon 233
-
BMPR1A_000035
ACMG PM2, PP1-M, PP3, ACMG PM2, PP3
Journal: Kurland 2007
,
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
1 more item
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
+/+
1
5
c.238G>A
r.(?)
p.(Gly80Arg)
-
pathogenic
g.88651891G>A
g.86892134G>A
-
-
BMPR1A_000036
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
3
5
c.245G>A
r.(?)
p.(Cys82Tyr)
ACMG
VUS
g.88651898G>A
g.86892141G>A
-
-
BMPR1A_000037
ACMG PM2, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
PubMed: Howe 2004
,
Journal: Howe 2004
,
1 more item
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
-?/.
1
-
c.246C>T
r.(?)
p.(Cys82=)
-
likely benign
g.88651899C>T
g.86892142C>T
-
-
BMPR1A_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/+
5
5
c.262G>T
r.(?)
p.(Glu88*)
ACMG
VUS
g.88651915G>T
g.86892158G>T
-
-
BMPR1A_000038
ACMG PVS1, PM2, PM4, PP3, ACMG PVS1, PM2, PM4, PP3, PP5
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
PubMed: Howe 2004
,
Journal: Howe 2004
,
1 more item
-
rs730881431
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
?/?
14
5
c.264_266del
r.(?)
p.(Glu88del)
ACMG
VUS
g.88651917_88651919del
g.86892160_86892162del
264_266delAGA
-
BMPR1A_000039
ACMG PP1, PP3, PM2
PubMed: Nieminen 2011
,
Journal: Nieminen 2011
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
,
Karl Heinimann
+/.
1
-
c.271C>T
r.(?)
p.(Gln91*)
-
pathogenic
g.88651924C>T
g.86892167C>T
-
-
BMPR1A_000095
disruptive variant
PubMed: Baert-Desurmont 2018
-
-
Germline
-
-
-
-
-
Stephanie Baert-Desurmont
?/.
1
-
c.299G>A
r.(?)
p.(Cys100Tyr)
-
VUS
g.88651952G>A
g.86892195G>A
-
-
BMPR1A_000006
PolyPhen: prob. damaging-PSIC score 1,2;
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/?
1
5i
c.333+5G>C
r.333_334ins[GTAAC;333+6_333_97]
p.?
-
VUS
g.88651991G>C
g.86892234G>C
IVS3+5G>C
-
BMPR1A_000101
-
PubMed: Sweet 2005
,
Journal: Sweet 2005
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/., ?/+
4
4, 6
c.349C>T
r.(?)
p.(Gln117*)
ACMG
pathogenic (dominant), VUS
g.88659566C>T
g.86899809C>T
-
-
BMPR1A_000040
ACMG PVS1, PM2, PM4, PP3
PubMed: Aretz 2007
,
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
2 more items
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
,
Karl Heinimann
?/+
1
6
c.351dup
r.(?)
p.(Leu118Alafs*14)
ACMG
VUS
g.88659568dup
g.86899811dup
351-352insG
-
BMPR1A_000041
ACMG PVS1, PM2, PM4, PP3
PubMed: Pyatt 2006
,
Journal: Pyatt 2006
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/+
3
6
c.353del
r.(?)
p.(Leu118Hisfs*5)
ACMG
VUS
g.88659570del
g.86899813del
353delT
-
BMPR1A_000042
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
PubMed: Howe 2004
,
Journal: Howe 2004
,
1 more item
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
+/+, ?/.
2
6
c.355C>T
r.(?)
p.(Arg119Cys)
-
pathogenic, VUS
g.88659572C>T
g.86899815C>T
-
-
BMPR1A_000008
conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Aretz 2007
,
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs587782494
Germline
-
1/2795 individuals
-
-
-
Global Variome, with Curator vacancy
,
Mohammed Faruq
?/?
1
6
c.359G>C
r.(?)
p.(Arg120Pro)
ACMG
VUS
g.88659576G>C
g.86899819G>C
-
-
BMPR1A_000118
ACMG PP3, PM2
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
1
6
c.370T>C
r.(?)
p.(Cys124Arg)
-
pathogenic
g.88659587T>C
g.86899830T>C
C124R
-
BMPR1A_000009
-
PubMed: Zhou 2001
,
Journal: Zhou 2001
-
rs199476087
Germline/De novo (untested)
-
-
-
-
-
Global Variome, with Curator vacancy
?/?
1
6
c.373T>G
r.(?)
p.(Cys125Gly)
ACMG
VUS
g.88659590T>G
g.86899833T>G
-
-
BMPR1A_000119
ACMG PP3, PM2
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/?
1
6
c.385T>A
r.(?)
p.(Leu129Ile)
ACMG
VUS
g.88659602T>A
g.86899845T>A
-
-
BMPR1A_000120
ACMG PM2, BP4
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+, +/.
2
4, 6
c.388T>C
r.(?)
p.(Cys130Arg)
-
pathogenic, pathogenic (dominant)
g.88659605T>C
g.86899848T>C
-
-
BMPR1A_000010
-
PubMed: Aretz 2007
,
PubMed: Friedl 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
?/+
1
6
c.405dup
r.(?)
p.(Pro136Thrfs*13)
ACMG
VUS
g.88659622dup
g.86899865dup
405-406insA
-
BMPR1A_000011
ACMG PVS1, PM2, PM4, PP3
PubMed: Pyatt 2006
,
Journal: Pyatt 2006
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/.
1
-
c.419C>T
r.(?)
p.(Pro140Leu)
-
VUS
g.88659636C>T
g.86899879C>T
BMPR1A(NM_004329.3):c.419C>T (p.P140L)
-
BMPR1A_000147
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/+
1
6
c.419_420del
r.(?)
p.(Pro140Argfs*8)
-
pathogenic (dominant)
g.88659636_88659637del
g.86899879_86899880del
419_420delCT
-
BMPR1A_000012
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
-
c.430+2T>C
r.spl
p.?
-
pathogenic (dominant)
g.88659649T>C
g.86899892T>C
-
-
BMPR1A_000097
-
PubMed: Aretz 2007
-
-
De novo
-
-
-
-
-
Global Variome, with Curator vacancy
?/.
1
-
c.430+5G>A
r.spl?
p.?
-
VUS
g.88659652G>A
g.86899895G>A
-
-
BMPR1A_000148
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
4i
c.431-66_431-2del
r.spl
p.?
-
pathogenic (dominant)
g.88659718_88659782del
g.86899961_86900025del
432‐2_‐66del
-
BMPR1A_000121
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
2
-
c.431-26T>A
r.(=)
p.(=)
-
benign
g.88659758T>A
g.86900001T>A
-
-
BMPR1A_000002
Destroys an annotated disulfitbrigde!, VKGL data sharing initiative Nederland
-
-
rs7920259
CLASSIFICATION record, Germline
-
Frequency up to 35%
-
-
-
Andreas Laner
,
VKGL-NL_Nijmegen
+/.
1
-
c.431-2A>C
r.spl?
p.?
-
pathogenic
g.88659782A>C
g.86900025A>C
-
-
BMPR1A_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/+
1
6i
c.431-1G>A
r.spl
p.?
ACMG
VUS
g.88659783G>A
g.86900026G>A
IVS4-1G>A
-
BMPR1A_000099
ACMG PVS1, PM2, PP3
PubMed: Pyatt 2006
,
Journal: Pyatt 2006
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
-/.
4
-
c.435G>A
r.(?)
p.(Pro145=)
-
benign
g.88659788G>A
g.86900031G>A
BMPR1A(NM_004329.2):c.435G>A (p.P145=), BMPR1A(NM_004329.3):c.435G>A (p.P145=)
-
BMPR1A_000070
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
?/.
2
7
c.499A>G
r.(?)
p.(Met167Val)
ACMG
VUS
g.88659852A>G
g.86900095A>G
-
-
BMPR1A_000088
1 more item
-
-
rs200951235
Germline, Unknown
-
-
-
-
-
Andreas Laner
,
M Walsh
-/?
1
7
c.524G>A
r.(?)
p.(Cys175Tyr)
ACMG
benign
g.88659877G>A
g.86900120G>A
-
-
BMPR1A_000122
ACMG PP3, BP6
Journal: Jelsig 2016
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/.
1
-
c.524_525dup
r.(?)
p.(Tyr176Valfs*32)
-
pathogenic
g.88659877_88659878dup
g.86900120_86900121dup
-
-
BMPR1A_000003
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/+
1
7
c.528G>A
r.(?)
p.(Tyr176*)
ACMG
VUS
g.88659881G>A
-
-
-
BMPR1A_000123
1 more item
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
-/.
1
-
c.531-59T>C
r.(=)
p.(=)
-
benign
g.88671938T>C
g.86912181T>C
-
-
BMPR1A_000149
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.531-51G>A
r.(=)
p.(=)
-
likely benign
g.88671946G>A
g.86912189G>A
-
-
BMPR1A_000150
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.531-22T>C
r.(=)
p.(=)
-
likely benign
g.88671975T>C
g.86912218T>C
-
-
BMPR1A_000151
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/?
1
7i
c.531-2A>G
r.spl
p.?
ACMG
VUS
g.88671995A>G
g.86912238A>G
-
-
BMPR1A_000102
ACMG PM2, PP3
PubMed: van Hattem 2008
,
Journal: van Hattem 2008
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+
1
7i
c.531-1G>T
r.spl
p.?
-
pathogenic
g.88671996G>T
g.86912239G>T
IVS5-1G>T
-
BMPR1A_000104
-
PubMed: Zhou 2001
,
Journal: Zhou 2001
-
-
Germline/De novo (untested)
-
-
-
-
-
Global Variome, with Curator vacancy
?/+
2
7i_13_
c.(530+1_531-1)_(*1469_?)del
r.?
p.?
ACMG
VUS
g.(88659884_88671996)_(88684945_?)del
-
531-?_1599+?del
-
BMPR1A_000124
ACMG PVS1, PM2
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
./.
1
-
c.562C>T
r.(?)
p.(Arg188Cys)
-
VUS
g.88672028C>T
g.86912271C>T
-
-
BMPR1A_000067
-
Thibodeau lab (Mayo Clinic)
-
-
Germline
-
-
-
-
-
Melissa DeRycke
-?/.
1
-
c.563G>A
r.(?)
p.(Arg188His)
-
likely benign
g.88672029G>A
-
-
-
BMPR1A_000167
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/+
1
8
c.567C>A
r.(?)
p.(Tyr189*)
ACMG
VUS
g.88672033C>A
g.86912276C>A
-
-
BMPR1A_000013
ACMG PVS1, PM2, PM4, PP3
PubMed: Handra-Luca 2005
,
Journal: Handra-Luca 2005
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/+, +/.
2
6, 8
c.583C>T
r.(?)
p.(Gln195*)
-
pathogenic, pathogenic (dominant)
g.88672049C>T
g.86912292C>T
-
-
BMPR1A_000014
-
PubMed: Aretz 2007
,
PubMed: Friedl 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
?/.
1
-
c.629T>C
r.(?)
p.(Ile210Thr)
-
VUS
g.88672095T>C
g.86912338T>C
BMPR1A(NM_004329.2):c.629T>C (p.I210T)
-
BMPR1A_000071
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
1
8
c.665dup
r.(?)
p.(Pro223Thrfs*20)
-
pathogenic
g.88672131dup
g.86912374dup
665insT
-
BMPR1A_000015
-
PubMed: Zhou 2001
,
Journal: Zhou 2001
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/+
3
8
c.674del
r.(?)
p.(Leu225Trpfs*36)
ACMG
VUS
g.88672140del
g.86912383del
673delT, 674delT
-
BMPR1A_000016
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
PubMed: Howe 2004
,
Journal: Howe 2004
,
1 more item
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
-/.
3
-
c.675+12G>A
r.(=)
p.(=)
-
benign
g.88672153G>A
g.86912396G>A
BMPR1A(NM_004329.3):c.675+12G>A
-
BMPR1A_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
-?/.
1
-
c.675+17T>C
r.(=)
p.(=)
-
likely benign
g.88672158T>C
-
-
-
BMPR1A_000162
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+, +/., ?/+
4
7, 9
c.682C>T
r.(?)
p.(Arg228*)
ACMG
pathogenic, pathogenic (dominant), VUS
g.88676897C>T
g.86917140C>T
-
-
BMPR1A_000017, BMPR1A_000094
ACMG PVS1, PM2, PM4, PP3, disruptive variant
Journal: Ngeow 2013
,
PubMed: Aretz 2007
,
PubMed: Baert-Desurmont 2018
,
PubMed: Friedl 2002
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
,
Karl Heinimann
,
Stephanie Baert-Desurmont
?/+
1
9
c.697C>T
r.(?)
p.(Gln233*)
ACMG
VUS
g.88676912C>T
g.86917155C>T
-
-
BMPR1A_000125
ACMG PVS1, PM2, PM4, PP3
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
25
9
c.715C>T
r.(?)
p.(Gln239*)
ACMG
VUS
g.88676930C>T
g.86917173C>T
-
-
BMPR1A_000018
ACMG PVS1, PM2, PM4, PP1, PP3, ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
PubMed: Howe 2001
,
Journal: Howe 2001
,
2 more items
-
rs199476084
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
?/.
1
-
c.718G>A
r.(?)
p.Val240Ile
ACMG
VUS
g.88676933G>A
g.86917176G>A
-
-
BMPR1A_000157
ACMG grading: PM2
-
-
-
Germline
-
-
-
-
-
Andreas Laner
+/., ?/.
2
-
c.730C>T
r.(?)
p.(Arg244*), p.(Arg244Ter)
-
pathogenic
g.88676945C>T
g.86917188C>T
-
-
BMPR1A_000081
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
James Whitworth
,
VKGL-NL_Nijmegen
?/+
7
9
c.735_736delinsAT
r.(?)
p.(Tyr245*)
ACMG
VUS
g.88676950_88676951delinsAT
g.86917193_86917194delinsAT
732-6 TG>AT, 733-6 TG>AT, 734-6 TG>AT, 735-6 TG>AT, 735T>A;736G>T
-
BMPR1A_000019
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
,
PubMed: Howe 2008
,
Journal: Howe 2008
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
,
Karl Heinimann
?/?
1
9
c.761G>A
r.(?)
p.(Arg254His)
-
VUS
g.88676976G>A
g.86917219G>A
-
-
BMPR1A_000020
-
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/+
1
9
c.769A>T
r.(?)
p.(Lys257*)
ACMG
VUS
g.88676984A>T
g.86917227A>T
-
-
BMPR1A_000126
ACMG PVS1, PM2, PM4, PP3
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
-?/.
1
-
c.777G>A
r.(?)
p.(Ala259=)
-
likely benign
g.88676992G>A
g.86917235G>A
BMPR1A(NM_004329.2):c.777G>A (p.A259=)
-
BMPR1A_000152
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/+
1
9
c.784_805del
r.(?)
p.(Val262Profs*14)
ACMG
VUS
g.88676999_88677020del
g.86917242_86917263del
784-805del22
-
BMPR1A_000127
ACMG PVS1, PM2, PM4
Journal: Zhou 2001
-
-
Germline/De novo (untested)
-
-
-
-
-
Karl Heinimann
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