Global Variome shared LOVD
USH1C (Usher syndrome 1C (autosomal recessive, severe))
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Curator:
David Baux
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Unique variants in the USH1C gene
This database is one of the
”Retinal and hearing impairment genetic variant databases”
.
The variants shown are described using the NM_153676.3 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
P-domain
: region/domain protein affected
Exon_old
: exon number according to older numbering
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
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|
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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203 entries on 3 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
P-domain
Exon_old
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
+/., ?/.
2
-
c.?
r.(?), r.?
p.(Gly407Glufs*58), p.?
-
-
ACMG
pathogenic, VUS
g.17539012del, g.?
-
566G>A (Arg189Gln), NM_005709.3:c.1220del
-
DRD4_000002, USH1C_000196
-
PubMed: Costa 2017
,
PubMed: Sharon 2019
-
-
Germline
-
13/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
-?/.
1
-
c.-3158G>A
r.(?)
p.(=)
-
-
-
likely benign
g.17569012C>T
-
OTOG(NM_001277269.1):c.93C>T (p.L31=)
-
USH1C_000225
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
2i_27_
c.(104+1_105-1)_*437{0}
r.?
p.?
-
-
-
pathogenic
g.(17432201_17434212)_(17553090_17554801)del, g.(?_g.17436861)_(17546526_?)del
17439772_17546526del
del ex3-27
-
USH1C_000212
123kb deletion incl. ABCC8 and USH1C
PubMed: Neuhaus 2017
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
-
c.7C>T
r.(?)
p.(Arg3Ter)
-
-
-
pathogenic (recessive)
g.17565848G>A
g.17544301G>A
-
-
USH1C_000208
-
PubMed: Ben-Rebeh 2016
-
-
Germline
yes
-
-
-
-
LOVD
?/.
1
-
c.28C>T
r.(?)
p.(Arg10Trp)
-
-
-
VUS
g.17565827G>A
-
-
-
USH1C_000224
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/?
1
1
c.36G>A
r.(?)
p.(=)
PDZ 2 (211-281)
1
-
pathogenic
g.17565819C>T
g.17544272C>T
-
-
USH1C_000100
heterozygous; mutation
PubMed: Bonnet 2016
-
-
Germline
-
-
-
-
-
Crystel Bonnet
+/+
2
1i
c.36+1G>T
r.(?)
p.(?)
-
1i
-
pathogenic
g.17565818C>A
g.17544271C>A
-
-
USH1C_000032
heterozygous
PubMed: Zwaenepoel 2001
-
-
Germline
-
0/100 controls
-
-
-
Anne-Françoise Roux
-/-
4
1i
c.37-153G>T
r.(=)
p.(=)
-
1i
ACMG
benign, likely benign
g.17555022C>A
g.17533475C>A
-
-
USH1C_000059
heterozygous; pathogenicity not assessed
PubMed: Le Quesne Stabej 2012
-
rs41274344
Germline
-
0/96 controls
-MnlI
-
-
Maria Bitner-Glindzicz
-/?
1
1i
c.37-111A>C
r.(=)
p.(=)
-
1i
ACMG
likely benign
g.17554980T>G
g.17533433T>G
-
-
USH1C_000067
heterozygous; pathogenicity not assessed
PubMed: Le Quesne Stabej 2012
-
-
Germline
-
0/96 controls
+FauI;+AciI;-BpmI;-CviKI_1;
-
-
Maria Bitner-Glindzicz
-/-
3
1i
c.37-61A>G
r.(=)
p.(=)
-
1i
-
benign, pathogenic
g.17554930T>C
g.17533383T>C
-
-
USH1C_000028
heterozygous, homozygous
PubMed: Roux 2006
,
PubMed: Roux 2011
-
rs878546
Germline
-
-
-
-
-
Anne-Françoise Roux
-/?
1
1i
c.37-52A>G
r.(=)
p.(=)
PDZ 1 (87-155)
1i
ACMG
VUS
g.17554921T>C
g.17533374T>C
-
-
USH1C_000071
heterozygous; pathogenicity not assessed
PubMed: Le Quesne Stabej 2012
-
rs146780803
Germline
-
0/96 controls
none
-
-
Maria Bitner-Glindzicz
-/-
2
1i
c.37-48G>T
r.(=)
p.(=)
-
1i
-
benign
g.17554917C>A
g.17533370C>A
-
-
USH1C_000027
homozygous
PubMed: Roux 2006
-
-
Germline
-
-
-
-
-
Anne-Françoise Roux
-/-
4
1i
c.37-47G>T
r.(=)
p.(=)
-
1i
-
benign
g.17554916C>A
g.17533369C>A
-
-
USH1C_000020
heterozygous, homozygous
PubMed: Besnard, Garcia-Garcia 2014
,
PubMed: Roux 2006
-
rs2355022
Germline
-
-
-
-
-
Anne-Françoise Roux
-/-
6
1i
c.37-45C>G
r.(=)
p.(=)
-
1i
-
benign
g.17554914G>C
g.17533367G>C
-
-
USH1C_000019
heterozygous, homozygous
PubMed: Besnard, Garcia-Garcia 2014
,
PubMed: Roux 2006
,
PubMed: Roux 2011
-
rs2240489
Germline
-
-
-
-
-
Anne-Françoise Roux
-/?
1
1i
c.37-43_37-42dup
r.(?)
p.(?)
-
1i
-
benign
g.17554912_17554913dup
g.17533365_17533366dup
-
-
USH1C_000041
heterozygous
PubMed: Roux 2011
-
rs5789992
Germline
-
-
-
-
-
Anne-Françoise Roux
?/.
1
-
c.38T>C
r.(?)
p.(Val13Ala)
-
-
-
VUS
g.17554868A>G
g.17533321A>G
USH1C(NM_153676.3):c.38T>C (p.V13A)
-
USH1C_000185
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
2
c.91C>A
r.(?)
p.(Arg31*)
-
-
-
pathogenic (recessive)
g.17554815G>A
g.17533268G>A
91C>A
-
USH1C_000031
-
PubMed: Cremers 2007
-
-
Germline
-
-
-
-
-
LOVD
+/+
1
2
c.91C>T
r.(?)
p.(Arg31*)
-
2
-
pathogenic
g.17554815G>A
g.17533268G>A
-
-
USH1C_000031
heterozygous
PubMed: Zwaenepoel 2001
-
rs121908370
Germline
-
-
-
-
-
Anne-Françoise Roux
-/., -?/?
2
2
c.101A>G
r.(?)
p.(His34Arg)
-
2
ACMG
benign, likely benign
g.17554805T>C
g.17533258T>C
USH1C(NM_153676.3):c.101A>G (p.H34R)
-
USH1C_000084
heterozygous, VKGL data sharing initiative Nederland
PubMed: Besnard, Garcia-Garcia 2014
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
-
-
CLASSIFICATION record, Germline
-
-
+AciI
-
-
VKGL-NL_AMC
,
Anne-Françoise Roux
+/+, +/.
2
2i
c.104+1G>A
r.(?), r.spl?
p.(?), p.?
-
2i
-
pathogenic
g.17554801C>T
g.17533254C>T
-
-
USH1C_000097, USH1C_000155
heterozygous; mutation, VKGL data sharing initiative Nederland
PubMed: Bonnet 2016
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Nijmegen
,
Crystel Bonnet
+/+
3
2i_27_
c.104+580_*437del
r.(?), r.?
p.(?), p.?
1 more item
2_21
-
pathogenic (recessive)
g.17431532_17554222del
g.17409985_17532675del
105_2700del
-
USH1C_000034
-
PubMed: Bitner-Glindzicz 2000
-
-
Germline
yes
-
-
-
-
Anne-Françoise Roux
-/-, -/.
4
2i
c.105-16C>T
r.(=)
p.(=)
-
2i
-
benign
g.17553105G>A
g.17531558G>A
USH1C(NM_153676.4):c.105-16C>T
-
USH1C_000045, USH1C_000144
heterozygous, VKGL data sharing initiative Nederland
PubMed: Roux 2011
-
rs2041027
CLASSIFICATION record, Germline
-
-
-BssKI;-NciI;-BsmI;-ScrFI;-StyD4I;
-
-
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
Anne-Françoise Roux
-/.
1
-
c.105-4A>G
r.spl?
p.?
-
-
-
benign
g.17553093T>C
g.17531546T>C
USH1C(NM_153676.3):c.105-4A>G
-
USH1C_000143
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.114C>T
r.(?)
p.(Asp38=)
-
-
-
likely benign
g.17553080G>A
g.17531533G>A
USH1C(NM_153676.3):c.114C>T (p.D38=)
-
USH1C_000142
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.127G>A
r.(?)
p.(Val43Met)
-
-
-
VUS
g.17553067C>T
g.17531520C>T
USH1C(NM_153676.3):c.127G>A (p.V43M)
-
USH1C_000192
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/?
2
3
c.187C>T
r.(=)
p.(Arg63Trp)
PDZ 1 (87-155)
3
ACMG
VUS
g.17553007G>A
g.17531460G>A
-
-
USH1C_000086
heterozygous; potentially pathogenic
PubMed: Ganapathy 2014
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
-
rs375741564
Germline
-
0/100 controls
-
-
-
Anne-Françoise Roux
+?/.
1
3
c.216A>G
r.(?)
p.?
-
-
-
likely pathogenic
g.17552978T>C
-
c.216A>G
-
USH1C_000233
-
PubMed: Wafa-2021
-
-
Germline
-
-
-
-
-
LOVD
+/+, +/., +?/.
50
3
c.216G>A
r.(210_248del), r.(=), r.(?), r.214_248del, r.spl?
p.(=), p.(?), p.(His70_Arg83delinsGln), p.(Val72=), p.Val72Glufs*65
PDZ 2 (211-281)
3
-
likely pathogenic, pathogenic, pathogenic (recessive)
g.17552978C>T
g.17531431C>T
11:17552978C>T ENST00000005226.7:c.216G>A (?)), c.216G>A,
3 more items
-
USH1C_000001
analysis mini-gene splicing assay and cell lines, heterozygous, homozygous,
3 more items
PubMed: Bitner-Glindzicz 2000
,
PubMed: Bujakowska 2014
,
PubMed: Carss 2017
,
PubMed: Ebermann 2007
,
8 more items
-
-
CLASSIFICATION record, Germline, Germline/De novo (untested)
?, yes
0/192 controls, 1/454 controls
-DraIII
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
Anne-Françoise Roux
?/.
1
-
c.216G>T
r.(=)
p.(=)
-
-
-
VUS
g.17552978C>A
g.17531431C>A
-
-
USH1C_000161
-
-
-
-
Germline
-
-
-
-
-
Gerard C.P. Schaafsma
?/.
1
-
c.225T>A
r.(?)
p.(Asp75Glu)
-
-
-
VUS
g.17552969A>T
g.17531422A>T
USH1C(NM_153676.3):c.225T>A (p.D75E)
-
USH1C_000184
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
1
3
c.226C>T
r.(?)
p.(Gln76*)
PDZ 1 (87-155)
3
ACMG
VUS
g.17552968G>A
g.17531421G>A
-
-
USH1C_000079
heterozygous
PubMed: Besnard, Garcia-Garcia 2014
-
-
Germline
-
-
-BclI;-BfuCI;-DpnI;-DpnII;-MboI;-MspA1I;
-
-
Anne-Françoise Roux
+/.
1
-
c.237_238insC
r.(?)
p.(Arg80Profs*69)
-
-
-
pathogenic (recessive)
g.17552956_17552957insG
-
11:17552955C>CG ENST00000005226.7:c.238dupC (Arg80ProfsTer69)
-
USH1C_000201
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
LOVD
+/+, +/., +?/., ?/.
67
3
c.238dup
r.(?)
p.(Arg80Profs*69), p.(Arg80ProfsTer69)
N-domain (1-86), PDZ 1 (87-155)
3
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS
g.17552956dup, g.17552961dup
g.17531409dup, g.17531414dup
232_233insC, 238dupC, 238_239dupC, 280inC, USH1C c.238dup, p.(Arg80Profs*69),
3 more items
-
USH1C_000003, USH1C_000154
heterozygous, heterozygous; mutation, heterozygous; Pathogenic, homozygous, homozygous; mutation,
4 more items
PubMed: Bitner-Glindzicz 2000
,
PubMed: Blaydon 2003
,
PubMed: Bonnet 2011
,
PubMed: Bonnet 2016
,
16 more items
-
-
CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown
?, yes
0/160 controls, 0/200 controls, 0/878 controls, 1/899 cases, 2/2420 IRD families
none
-
-
Global Variome, with Curator vacancy
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
Anne-Françoise Roux
,
Maria Bitner-Glindzicz
,
Crystel Bonnet
?/.
1
-
c.242G>A
r.(?)
p.(Arg81His)
-
-
-
VUS
g.17552952C>T
g.17531405C>T
USH1C(NM_153676.3):c.242G>A (p.R81H)
-
USH1C_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/.
1
-
c.263del
r.(?)
p.(Val88Glyfs*13)
-
-
-
likely pathogenic
g.17552825del
g.17531278del
USH1C, variant 1: c.263del/p.V88Gfs*13, variant 2: c.496+1G>T/p.?
-
USH1C_000229
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
LOVD
+?/?
2
4
c.266G>A
r.(=)
p.(Arg89His)
Proline rich (515-683)
4
ACMG
VUS
g.17552822C>T
g.17531275C>T
267G>A - p.(Arg89His)
-
USH1C_000087
heterozygous; certainly pathogenic
PubMed: Ganapathy 2014
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
-
-
Germline
-
0/100 controls
-
-
-
Anne-Françoise Roux
-/-
2
4
c.294C>T
r.(?)
p.(=)
-
4
-
benign
g.17552794G>A
g.17531247G>A
-
-
USH1C_000026
homozygous
PubMed: Roux 2006
-
rs34055234
Germline
-
-
-
-
-
Anne-Françoise Roux
+?/?, -/.
2
4
c.307C>T
r.(?)
p.(Arg103Cys)
-
4
ACMG
benign, likely benign
g.17552781G>A
g.17531234G>A
USH1C(NM_153676.3):c.307C>T (p.R103C)
-
USH1C_000081, USH1C_000139
heterozygous, VKGL data sharing initiative Nederland
PubMed: Besnard, Garcia-Garcia 2014
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_AMC
,
Anne-Françoise Roux
+?/., +?/?
6
4
c.308G>A
r.(?)
p.(Arg103His)
PDZ 1 (87-155), PDZ 3 (752-825)
4
ACMG
benign, likely pathogenic, VUS
g.17552780C>T
g.17531233C>T
USH1C c.308G>A, p.Arg103His
-
USH1C_000007
heterozygous, heterozygous; likely pathogenic, heterozygous; Presumably pathogenic
PubMed: Bonnet 2011
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
,
PubMed: Georgiou 2021
,
2 more items
-
-
Germline, Unknown
?
0/306 controls, 0/352 controls, 0/866 controls
+FatI;+NlaIII;+CviAII;+HpyCH4V;
-
-
Anne-Françoise Roux
,
Maria Bitner-Glindzicz
+?/., +?/?
2
4
c.311G>A
r.(?)
p.(Gly104Asp)
-
4
ACMG
likely benign, likely pathogenic
g.17552777C>T
g.17531230C>T
-
-
USH1C_000080
heterozygous
0,
PubMed: Besnard, Garcia-Garcia 2014
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
-
-
Germline
yes
-
+BccI
-
-
Anne-Françoise Roux
-/?
1
4
c.324T>C
r.(?)
p.(=)
-
4
-
pathogenic
g.17552764A>G
g.17531217A>G
-
-
USH1C_000077
heterozygous; UV1
PubMed: Le Quesne Stabej 2012
-
-
Germline
-
0/878 controls
none
-
-
Maria Bitner-Glindzicz
+/.
1
4
c.348_373del
r.(?)
p.(His116Glnfs*24)
-
-
-
pathogenic
g.17552715_17552740del
-
c.348_373del
-
USH1C_000230
-
PubMed: Colombo-2020
-
-
Germline
yes
-
-
-
-
LOVD
+/.
1
-
c.364C>T
r.(?)
p.(Gln122Ter)
-
-
-
pathogenic
g.17552724G>A
g.17531177G>A
-
-
USH1C_000183
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+
2
4
c.369del
r.(?)
p.(Asp124Thrfs*7)
-
4
-
benign
g.17552719del
g.17531172del
-
-
USH1C_000053
homozygous; Pathogenic
PubMed: Aparisi 2010
-
-
Germline
-
-
none
-
-
Anne-Françoise Roux
-/., -?/.
2
-
c.381G>T
r.(?)
p.(Gly127=)
-
-
-
benign, likely benign
g.17552707C>A
g.17531160C>A
USH1C(NM_153676.3):c.381G>T (p.G127=)
-
USH1C_000138
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
+?/?
2
4i
c.388-8T>A
r.(=)
p.(=)
-
4i
ACMG
VUS
g.17548886A>T
g.17527339A>T
-
-
USH1C_000091
heterozygous; potentially pathogenic
PubMed: Ganapathy 2014
-
-
Germline
-
0/100 controls
-
-
-
Anne-Françoise Roux
+/+
2
4i
c.388-1G>C
r.(?)
p.(?)
N-domain (1-86)
4i
ACMG
VUS
g.17548879C>G
g.17527332C>G
-
-
USH1C_000099
homozygous; mutation
PubMed: Bonnet 2016
-
rs55843567
Germline
-
-
-
-
-
Crystel Bonnet
-/?
1
5
c.388G>A
r.(?)
p.(Val130Ile)
Proline rich (515-683)
5
ACMG
likely benign
g.17548878C>T
g.17527331C>T
-
-
USH1C_000035
heterozygous
PubMed: Blaydon 2003
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
-
rs55843567
Germline
-
0/192 controls
-
-
-
Anne-Françoise Roux
-?/., ?/.
2
-
c.403G>A
r.(?)
p.(Val135Ile)
-
-
-
likely benign, VUS
g.17548863C>T
g.17527316C>T
USH1C(NM_153676.3):c.403G>A (p.V135I)
-
USH1C_000137
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
?/.
1
-
c.406C>T
r.(?)
p.(Arg136Trp)
-
-
-
VUS
g.17548860G>A
g.17527313G>A
-
-
USH1C_000153
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.407G>A
r.(?)
p.(Arg136Gln)
-
-
ACMG
VUS
g.17548859C>T
g.17527312C>T
-
-
USH1C_000207
-
PubMed: Sun 2018
-
-
Germline
-
-
-
-
-
LOVD
+?/., ?/.
2
-
c.434G>A
r.(?)
p.(Cys145Tyr)
-
-
ACMG
likely pathogenic, VUS
g.17548832C>T
g.17527285C>T
USH1C(NM_153676.3):c.434G>A (p.C145Y)
-
USH1C_000136
VKGL data sharing initiative Nederland
PubMed: Sun 2018
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
2
-
c.440A>G
r.(?)
p.(His147Arg)
-
-
-
likely pathogenic, pathogenic (recessive)
g.17548826T>C
g.17527279T>C
11:17548826T>C ENST00000005226.7:c.440A>G (His147Arg), USH1C c.440A>G, p.His147Arg
-
USH1C_000200
heterozygous
PubMed: Carss 2017
,
PubMed: Turro 2020
-
-
Germline, Germline/De novo (untested)
?
-
-
-
-
LOVD
+?/?
2
5
c.446_448del
r.(?)
p.(Glu149del)
Coiled coil 1 (323-377)
5
ACMG
likely benign
g.17548822_17548824del
g.17527275_17527277del
-
-
USH1C_000073
homozygous; Pathogenic
PubMed: Le Quesne Stabej 2012
-
-
Germline
-
-
-BseRI;-BslI;
-
-
Maria Bitner-Glindzicz
+/+, +?/.
5
5
c.463C>T
r.(?)
p.(Arg155*), p.(Arg155Ter)
PDZ 1 (87-155)
5
-
likely pathogenic, pathogenic
g.17548803G>A
g.17527256G>A
-
-
USH1C_000004
heterozygous, homozygous; mutation
PubMed: Bonnet 2016
,
PubMed: Bujakowska 2014
,
PubMed: Ebermann 2007
,
PubMed: Huang 2015
-
rs377145777
Germline
yes
0/200 controls
-
-
-
Anne-Françoise Roux
,
Crystel Bonnet
?/.
1
-
c.464G>A
r.(?)
p.(Arg155Gln)
-
-
ACMG
VUS
g.17548802C>T
g.17527255C>T
-
-
USH1C_000206
-
PubMed: Sun 2018
-
-
Germline
-
-
-
-
-
LOVD
+/+, +?/.
13
5i
c.496+1G>A
r.spl, r.spl?
p.?
1 more item
5i
-
likely pathogenic, pathogenic
g.17548769C>T
g.17527222C>T
-
-
USH1C_000033
heterozygous, heterozygous; Pathogenic, homozygous; certainly pathogenic, homozygous; Pathogenic
PubMed: Ellingford 2016
,
PubMed: Ganapathy 2014
,
PubMed: Le Quesne Stabej 2012
,
1 more item
-
rs138138689
Germline
-
0/100 controls
+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;
-
-
Anne-Françoise Roux
,
Maria Bitner-Glindzicz
+/+, +?/.
8
5i
c.496+1G>T
r.spl, r.spl?
p.(?), p.?
-
5i
-
likely pathogenic, pathogenic
g.17548769C>A
g.17527222C>A
USH1C, variant 1: c.263del/p.V88Gfs*13, variant 2: c.496+1G>T/p.?,
2 more items
-
USH1C_000005
heterozygous, solved, compound heterozygous,
1 more item
PubMed: Besnard, Garcia-Garcia 2014
,
PubMed: Bujakowska 2014
,
PubMed: Ebermann 2007
,
1 more item
-
-
Germline, Unknown
?
0/200 controls
-
-
-
Anne-Françoise Roux
-/-
22
5i
c.497-79_497-78insGAGCAGGGGCAG
r.(=)
p.(=)
-
5i
-
benign, pathogenic
g.17548666_17548667insTGCCCCTGCTCC
g.17527119_17527120insTGCCCCTGCTCC
-
-
USH1C_000030
heterozygous, homozygous
PubMed: Verpy 2000
,
PubMed: Zwaenepoel 2001
-
-
Germline
-
-
-
-
-
Anne-Françoise Roux
-?/.
1
-
c.497-5C>T
r.spl?
p.?
-
-
-
likely benign
g.17548592G>A
g.17527045G>A
USH1C(NM_153676.3):c.497-5C>T
-
USH1C_000135
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
28
5i
c.497-2del
r.spl?
p.?
-
5i
-
benign, pathogenic
g.17548589del
g.17527042del
-
-
USH1C_000029
homozygous, homozygous; Pathogenic
PubMed: Rizel 2012
,
PubMed: Verpy 2000
-
-
Germline
-
0/200 controls
+BstUI;+MwoI;
-
-
Anne-Françoise Roux
+/.
1
-
c.497-2delA
r.spl
p.?
-
-
ACMG
pathogenic
g.17548589del
-
c.497-2delA
-
USH1C_000029
-
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
+?/.
1
-
c.521+1G>A
r.spl
p.?
-
-
-
likely pathogenic
g.17548562C>T
g.17527015C>T
-
-
USH1C_000214
-
PubMed: Neuhaus 2017
-
-
Germline
-
-
-
-
-
LOVD
-/-
1
6i
c.521+56A>G
r.(=)
p.(=)
-
6i
-
benign
g.17548507T>C
g.17526960T>C
-
-
USH1C_000018
heterozygous
PubMed: Roux 2006
-
rs41282940
Germline
-
-
-
-
-
Anne-Françoise Roux
-/-
1
6i
c.522-45del
r.(=)
p.(=)
-
6i
-
benign
g.17548402del
g.17526855del
-
-
USH1C_000046
heterozygous
PubMed: Roux 2011
-
rs5789990
Germline
-
-
-
-
-
Anne-Françoise Roux
+/.
1
-
c.(521+1_522-1)_(579+1_580-1)del
r.?
p.?
-
-
ACMG
pathogenic
g.(17547989_17548299)_(17548358_17548562)del
g.(17526442_17526752)_(17526811_17527015)del
c.522-?_579+?del
-
USH1C_000202
-
PubMed: Sun 2018
-
-
Germline
-
-
-
-
-
LOVD
-/?
1
7
c.569C>T
r.(?)
p.(Ser190Leu)
PDZ 1 (87-155)
7
-
pathogenic
g.17548310G>A
g.17526763G>A
-
-
USH1C_000052
heterozygous; unknown effect
PubMed: Aparisi 2010
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
-
-
Germline
-
-
-Hpy188I
-
-
Anne-Françoise Roux
+/.
1
-
c.579+1G>C
r.spl
p.?
-
-
ACMG
pathogenic
g.17548299C>G
g.17526752C>G
-
-
USH1C_000205
-
PubMed: Sun 2018
-
-
Germline
-
-
-
-
-
LOVD
-/-
2
7i
c.579+61G>A
r.(=)
p.(=)
PDZ 3 (752-825)
7i
-
benign
g.17548239C>T
g.17526692C>T
-
-
USH1C_000049
heterozygous
PubMed: Besnard, Garcia-Garcia 2014
,
PubMed: Roux 2011
-
rs72870320
Germline
-
-
+MscI;+BsrI;-MspI;-HpaII;-Sau96I;-AvaII;
-
-
Anne-Françoise Roux
-/-
1
7i
c.580-27G>A
r.(=)
p.(=)
-
7i
-
benign
g.17548015C>T
g.17526468C>T
-
-
USH1C_000047
heterozygous
PubMed: Roux 2011
-
rs6486378
Germline
-
-
-
-
-
Anne-Françoise Roux
+/+, +?/.
3
7i
c.580-2A>T
r.(?), r.spl
p.(?)
PDZ 1 (87-155)
7i
ACMG
likely pathogenic, VUS
g.17547990T>A
g.17526443T>A
USH1C, variant 1: c.496+1G>T/p.?, variant 2: c.580-2A>T/p.?
-
USH1C_000006
heterozygous, heterozygous; mutation, solved, compound heterozygous
PubMed: Bonnet 2016
,
PubMed: Roux 2006
,
PubMed: Weisschuh 2020
-
-
Germline, Unknown
?
-
-
-
-
Anne-Françoise Roux
,
Crystel Bonnet
+/+, +?/.
3
8
c.586C>T
r.(?)
p.(Arg196*)
-
8
ACMG
likely pathogenic, pathogenic
g.17547982G>A
g.17526435G>A
-
-
USH1C_000096, USH1C_000164
homozygous; mutation
PubMed: Bonnet 2016
,
PubMed: Trujillano 2017
-
-
Germline
-
-
-
-
-
Daniel Trujillano
,
Crystel Bonnet
?/.
1
-
c.587G>A
r.(?)
p.(Arg196Gln)
-
-
-
VUS
g.17547981C>T
-
USH1C(NM_153676.3):c.587G>A (p.R196Q)
-
USH1C_000223
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
-
c.590del
r.(?)
p.(Gly197AlafsTer21)
-
-
-
pathogenic (recessive)
g.17547979del
g.17526432del
590delG
-
USH1C_000215
-
PubMed: Consugar 2015
-
-
Germline
yes
-
-
-
-
LOVD
-?/?
2
8
c.598G>A
r.(=)
p.(Gly200Ser)
-
8
ACMG
likely benign
g.17547970C>T
g.17526423C>T
-
-
USH1C_000089
heterozygous; potentially pathogenic
PubMed: Ganapathy 2014
; USMA-
USMA missense analysis
USMA-
missense variant in MSV3d
-
-
Germline
-
0/100 controls
-
-
-
Anne-Françoise Roux
+/.
1
8
c.628A>T
r.(?)
p.(Lys210*)
-
-
-
pathogenic (recessive)
g.17547940T>A
g.17526393T>A
-
-
USH1C_000198
-
Journal: Kannan-Sundhari 2020
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.648G>A
r.(?)
p.(Leu216=)
-
-
-
likely benign
g.17547920C>T
g.17526373C>T
USH1C(NM_153676.3):c.648G>A (p.L216=)
-
USH1C_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/?
2
8
c.653G>T
r.(?)
p.(Gly218Val)
-
-
-
pathogenic, VUS
g.17547915C>A
g.17526368C>A
c.653G>T
-
USH1C_000163
-
PubMed: Wang-2014
-
-
Unknown
-
-
-
-
-
Feng Wang
?/.
1
8
c.658C>G
r.(?)
p.(Arg220Gly)
-
-
ACMG
VUS
g.17547910G>C
-
-
-
USH1C_000211
-
PubMed: Bahena 2021
-
-
Germline
yes
-
-
-
-
Barbara Vona
+/+
2
8
c.672C>A
r.(?)
p.(Cys224*)
PDZ 1 (87-155)
8
ACMG
likely benign, pathogenic
g.17547896G>T
g.17526349G>T
-
-
USH1C_000051
homozygous; Pathogenic
PubMed: Aparisi 2010
-
-
Germline
-
-
+AcuI;+HpyAV;-BbvI;-Fnu4HI;-BspMI;-ApeKI;
-
-
Anne-Françoise Roux
-/.
1
-
c.674+4G>A
r.spl?
p.?
-
-
-
benign
g.17547890C>T
g.17526343C>T
USH1C(NM_153676.3):c.674+4G>A
-
USH1C_000182
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/?
1
8i
c.674+51G>A
r.(?)
p.(?)
-
8i
-
benign
g.17547843C>T
g.17526296C>T
-
-
USH1C_000048
heterozygous
PubMed: Roux 2011
-
-
Germline
-
-
-
-
-
Anne-Françoise Roux
-?/.
1
-
c.732C>T
r.(?)
p.(Gly244=)
-
-
-
likely benign
g.17546025G>A
g.17524478G>A
USH1C(NM_153676.3):c.732C>T (p.G244=)
-
USH1C_000191
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/.
2
-
c.748_759+5del
r.spl?
p.(?), p.?
-
-
-
likely pathogenic, pathogenic (recessive)
g.17545993_17546009del, g.17545997_17546013del
g.17524450_17524466del
11:17545992ACTCACCTCCAATCCCAC>A ENST00000005226.7:c.748_759+5delGTGGGATTGGAGGTGAG,
1 more item
-
USH1C_000199
homozygous
PubMed: Carss 2017
,
PubMed: Turro 2020
-
-
Germline, Germline/De novo (untested)
?
-
-
-
-
LOVD
+/+
1
9
c.751_759+3del
r.(?)
p.(Val250_Glu253del)
-
9
-
pathogenic
g.17546001_17546012del
g.17524454_17524465del
-
-
USH1C_000002
heterozygous
PubMed: Ebermann 2007
-
-
Germline
-
0/200 controls
-
-
-
Anne-Françoise Roux
-/.
1
-
c.759+20C>T
r.(=)
p.(=)
-
-
-
benign
g.17545978G>A
g.17524431G>A
USH1C(NM_153676.3):c.759+20C>T
-
USH1C_000133
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/-
1
9i
c.760-31A>C
r.(=)
p.(=)
-
9i
-
benign
g.17545056T>G
g.17523509T>G
-
-
USH1C_000017
heterozygous
PubMed: Roux 2006
-
-
Germline
-
-
-
-
-
Anne-Françoise Roux
-/.
1
-
c.760-4C>T
r.spl?
p.?
-
-
-
benign
g.17545029G>A
g.17523482G>A
USH1C(NM_153676.3):c.760-4C>T
-
USH1C_000190
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/+, +/.
7
10
c.778G>T
r.(?)
p.(Glu260*)
Coiled coil 2 (433-478);Proline rich (515-683), PDZ 2 (211-281)
10
ACMG
pathogenic, pathogenic (recessive)
g.17545007C>A
g.17523460C>A
-
-
USH1C_000102
homozygous
Abdi accepted in Plos One, Vaché et al., submitted
-
-
Germline
no
-
-
-
-
Anne-Françoise Roux
,
Crystel Bonnet
?/.
1
-
c.785A>G
r.(?)
p.(Asn262Ser)
-
-
-
VUS
g.17545000T>C
g.17523453T>C
-
-
USH1C_000181
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/., +?/?, ?/.
3
10
c.793G>A
r.(?)
p.(Asp265Asn)
-
-
ACMG
pathogenic, VUS
g.17544992C>T
g.17523445C>T
c.793G>A, USH1C c.[793G>A];[?], V1: c.793G>A, (p.Asp265Asn)
-
USH1C_000162
1 more item
PubMed: Chen 2021
,
PubMed: Wang-2014
-
-
Unknown
?
-
-
-
-
Feng Wang
?/.
1
-
c.811C>T
r.(?)
p.(His271Tyr)
-
-
-
VUS
g.17544974G>A
g.17523427G>A
USH1C(NM_153676.3):c.811C>T (p.H271Y)
-
USH1C_000180
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/., -?/.
2
-
c.819+10G>C
r.(=)
p.(=)
-
-
-
benign, likely benign
g.17544956C>G
g.17523409C>G
USH1C(NM_153676.3):c.819+10G>C
-
USH1C_000132
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
-/?
1
10i
c.820-61C>A
r.(=)
p.(=)
-
11i
-
pathogenic
g.17544875G>T
g.17523328G>T
-
-
USH1C_000076
heterozygous; pathogenicity not assessed
PubMed: Le Quesne Stabej 2012
-
-
Germline
-
0/96 controls
+BfuCI;+DpnII;+DpnI;-MwoI;-Bsp1286I;-BsiHKAI;
-
-
Maria Bitner-Glindzicz
-/-
5
10i
c.820-59C>T
r.(=)
p.(=)
3'UTR
11i
ACMG
benign, likely benign
g.17544873G>A
g.17523326G>A
-
-
USH1C_000062
heterozygous; pathogenicity not assessed
PubMed: Le Quesne Stabej 2012
-
rs148317033
Germline
-
0/96 controls
-Bsp1286I;-BsiHKAI;
-
-
Maria Bitner-Glindzicz
-/?
2
10i
c.820-51G>A
r.(=)
p.(=)
-
11i
-
benign
g.17544865C>T
g.17523318C>T
-
-
USH1C_000061
heterozygous; pathogenicity not assessed
PubMed: Le Quesne Stabej 2012
-
-
Germline
-
0/96 controls
+BfaI;-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;
-
-
Maria Bitner-Glindzicz
+?/.
1
-
c.841_848del
r.(?)
p.(Ser281Profs*28)
-
-
-
likely pathogenic
g.17544786_17544793del
g.17523239_17523246del
USH1C, variant 1: c.469+1G>T/p.?, variant 2: c.841_848del/p.S281Pfs*18
-
USH1C_000228
1 more item
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
LOVD
?/.
1
-
c.864T>G
r.(?)
p.(Ile288Met)
-
-
ACMG
VUS
g.17544770A>C
g.17523223A>C
USH1C:NM_153676 c.T864G, p.I288M
-
USH1C_000226
heterozygous, individual unsolved, causality of variants unknown
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
LOVD
+?/?
2
11i
c.876+6T>C
r.(=)
p.(=)
PDZ 3 (752-825)
11i
ACMG
benign, likely benign
g.17544752A>G
g.17523205A>G
-
-
USH1C_000092
homozygous; certainly pathogenic
PubMed: Ganapathy 2014
-
-
Germline
-
0/100 controls
-
-
-
Anne-Françoise Roux
-/-
2
11i
c.876+33G>A
r.(=)
p.(=)
PDZ 1 (87-155)
11i
-
benign
g.17544725C>T
g.17523178C>T
-
-
USH1C_000025
homozygous
PubMed: Roux 2006
-
rs114884519
Germline
-
-
-
-
-
Anne-Françoise Roux
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