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%)

 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 |
3 |
c.1047-2 A>G |
r.(?) |
p.? |
- |
pathogenic (recessive) |
g.? |
- |
- |
- |
PEX6_000074 |
- |
PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-/. |
1 |
1 |
c.-55C>T |
r.(?) |
p.(=) |
- |
benign |
g.42946943G>A |
- |
- |
- |
PEX6_000042 |
- |
- |
- |
- |
Germline |
- |
0.54 |
- |
- |
- |
Nancy Braverman |
-/. |
1 |
_1 |
- |
- |
- |
- |
benign |
g.42947192T>C |
- |
304A>G |
- |
PEX6_000043 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
3 |
1 |
c.10_69del |
r.(?) |
p.(Ala4_Leu23del) |
- |
pathogenic (recessive) |
g.42946820_42946879del |
- |
[10_69del;126_217del] |
- |
PEX6_000004 |
no variant 2nd chromosome reported |
{DBSubmBaltimore, USA 2006}, PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
-?/. |
1 |
- |
c.25C>T |
r.(?) |
p.(Leu9=) |
- |
likely benign |
g.42946864G>A |
g.42979126G>A |
PEX6(NM_000287.3):c.25C>T (p.L9=) |
- |
GNMT_000007 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
1 |
- |
c.35T>C |
r.(?) |
p.(Phe12Ser) |
- |
pathogenic (recessive) |
g.42946854A>G |
- |
- |
- |
PEX6_000054 |
- |
PubMed: Steinberg 2004 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
?/. |
1 |
1 |
c.62T>A |
r.(?) |
p.(Val21Glu) |
- |
VUS |
g.42946827A>T |
g.42979089A>T |
- |
- |
PEX6_000238 |
- |
PubMed: Ganapathy 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/+, +/. |
2 |
1 |
c.115_120del |
r.(?) |
p.(Ala39_Leu40del) |
- |
pathogenic, pathogenic (recessive) |
g.42946769_42946774del, g.42946772_42946777del |
g.42979034_42979039del |
114_119delTGGCCCT |
- |
PEX6_000061, PEX6_000230 |
no variant 2nd chromosome reported |
MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
+/. |
3 |
1 |
c.126_217del |
r.(?) |
p.(Gly44Thrfs*3) |
- |
pathogenic (recessive) |
g.42946672_42946763del |
- |
[10_69del;126_217del] |
- |
PEX6_000113 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen, Nancy Braverman |
+/. |
1 |
1 |
c.170T>C |
r.170u>c |
p.Leu57Pro |
- |
pathogenic (recessive) |
g.42946719A>G |
g.42978981A>G |
- |
- |
PEX6_000020 |
- |
PubMed: Imamura 2000, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-/. |
1 |
- |
c.210G>A |
r.(?) |
p.(Gly70=) |
- |
benign |
g.42946679C>T |
g.42978941C>T |
- |
- |
PEX6_000235 |
- |
PubMed: Yik 2009 |
- |
- |
Germline |
- |
1/116 chromosomes |
- |
- |
- |
Johan den Dunnen |
+/. |
1 |
1 |
c.224dup |
r.(?) |
p.(Val76Glyfs*2) |
- |
pathogenic (recessive) |
g.42946665dup |
- |
224dupT |
- |
PEX6_000062 |
- |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-/. |
2 |
1 |
c.235G>C |
r.(?) |
p.(Ala79Pro) |
- |
benign |
g.42946654C>G |
g.42978916C>G |
- |
- |
GNMT_000006, PEX6_000035 |
- |
PubMed: Steinberg 2004, PubMed: Yik 2009 |
- |
- |
Germline |
- |
0.02, 0.026 |
- |
- |
- |
Johan den Dunnen, Nancy Braverman |
+/. |
1 |
1 |
c.275_280del |
r.275_280del |
p.Val92_Arg93del |
- |
pathogenic (recessive) |
g.42946612_42946617del |
g.42978874_42978879del |
- |
- |
PEX6_000021 |
- |
PubMed: Zhang 1999, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
1 |
c.277C>G |
r.(?) |
p.(Arg93Gly) |
- |
pathogenic (recessive) |
g.42946612G>C |
- |
- |
- |
PEX6_000063 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
1 |
c.281C>A |
r.(?) |
p.(Ala94Glu) |
- |
pathogenic (recessive) |
g.42946608G>T |
- |
- |
- |
PEX6_000052 |
- |
PubMed: Steinberg 2004 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
2 |
1 |
c.283_288del |
r.283_288del |
p.Arg95_Ala96del |
- |
pathogenic (recessive) |
g.42946601_42946606del |
- |
282_287del |
- |
PEX6_000017 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
?/. |
1 |
- |
c.302C>G |
r.(?) |
p.(Pro101Arg) |
- |
VUS |
g.42946587G>C |
g.42978849G>C |
PEX6(NM_000287.4):c.302C>G (p.P101R) |
- |
GNMT_000010 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Groningen |
?/. |
1 |
- |
c.302C>T |
r.(?) |
p.(Pro101Leu) |
- |
VUS |
g.42946587G>A |
g.42978849G>A |
PEX6(NM_000287.3):c.302C>T (p.P101L) |
- |
GNMT_000009 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
3 |
1 |
c.311del |
r.(?) |
p.(Gly104Valfs*22) |
- |
pathogenic, pathogenic (recessive) |
g.42946578del |
- |
311delG |
- |
PEX6_000051, PEX6_000224 |
no variant 2nd chromosome reported |
MORL Deafness Variation Database, PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
-/., -?/. |
2 |
- |
c.330C>G |
r.(=), r.(?) |
p.(=), p.(Thr110=) |
- |
benign, likely benign |
g.42946559G>C |
- |
PEX6(NM_000287.3):c.330C>G (p.T110=) |
- |
PEX6_000234 |
VKGL data sharing initiative Nederland |
PubMed: Konkolova 2015 |
- |
- |
CLASSIFICATION record, Germline |
- |
- |
- |
- |
- |
Johan den Dunnen, VKGL-NL_Rotterdam |
-?/. |
1 |
- |
c.390C>G |
r.(?) |
p.(Thr130=) |
- |
likely benign |
g.42946499G>C |
- |
PEX6(NM_000287.3):c.390C>G (p.T130=) |
- |
GNMT_000017 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
-/. |
4 |
- |
c.399G>T |
r.(=), r.(?) |
p.(=), p.(Val133=) |
- |
benign |
g.42946490C>A |
g.42978752C>A |
PEX6(NM_000287.4):c.399G>T (p.V133=) |
- |
PEX6_000146 |
VKGL data sharing initiative Nederland |
PubMed: Konkolova 2015, PubMed: Steinberg 2004, PubMed: Yik 2009 |
- |
- |
CLASSIFICATION record, Germline |
- |
0.256, 0.37 |
- |
- |
- |
Johan den Dunnen, Nancy Braverman, VKGL-NL_Groningen |
+/. |
2 |
1 |
c.402del |
r.(?), r.402del |
p.(Gly135Aspfs*23), p.Gly135Aspfs*23 |
- |
pathogenic, pathogenic (recessive) |
g.42946487del, g.42946489del |
g.42978751del |
402delC, PEX6(NM_000287.3):c.402delC (p.G135Dfs*23) |
- |
PEX6_000023 |
VKGL data sharing initiative Nederland |
PubMed: Zhang 1999, MORL Deafness Variation Database |
- |
- |
CLASSIFICATION record, Germline |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam, Nancy Braverman |
-?/. |
1 |
- |
c.407C>A |
r.(?) |
p.(Pro136Gln) |
- |
likely benign |
g.42946482G>T |
g.42978744G>T |
PEX6(NM_000287.3):c.407C>A (p.P136Q) |
- |
PEX6_000145 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+?/+? |
1 |
1 |
c.488G>C |
r.(?) |
p.(Arg163Pro) |
- |
likely pathogenic |
g.42946401C>G |
g.42978663C>G |
- |
- |
PEX6_000222 |
- |
MORL Deafness Variation Database, PubMed: Grunert 2014 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy |
+/. |
1 |
- |
c.500_501del |
r.(?) |
p.(Cys167Serfs*74) |
- |
pathogenic (recessive) |
g.42946388_42946389del |
- |
499_500delTG |
- |
PEX6_000014 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
1 |
c.510dup |
r.510dup |
p.Gly171Trpfs*71 |
- |
pathogenic (recessive) |
g.42946379dup |
g.42978641dup |
511insT |
- |
PEX6_000007 |
- |
PubMed: Fukuda 1996, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
1 |
c.517del |
r.(?) |
p.(Ser173Alafs*33) |
- |
pathogenic (recessive) |
g.42946372del |
- |
517delA |
- |
PEX6_000008 |
- |
PubMed: Steinberg 2004 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
- |
c.530del |
r.(?) |
p.(Pro177Hisfs*29) |
- |
pathogenic (recessive) |
g.42946359del |
- |
530delC |
- |
PEX6_000022 |
- |
PubMed: Zhang 1999, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-?/. |
2 |
- |
c.531A>C |
r.(?) |
p.(Pro177=) |
- |
likely benign |
g.42946358T>G |
g.42978620T>G |
PEX6(NM_000287.3):c.531A>C (p.P177=), PEX6(NM_000287.4):c.531A>C (p.P177=) |
- |
PEX6_000144 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam, VKGL-NL_Groningen |
+/. |
1 |
1 |
c.557C>A |
r.(?) |
p.(Ala186Glu) |
- |
pathogenic (recessive) |
g.42946332G>T |
- |
- |
- |
PEX6_000064 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/+ |
1 |
1 |
c.611C>G |
r.(?) |
p.(Ser204*) |
- |
pathogenic |
g.42946278G>C |
g.42978540G>C |
- |
- |
PEX6_000217 |
- |
MORL Deafness Variation Database, PubMed: Al-Gazali 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy |
?/. |
1 |
- |
c.654C>G |
r.(?) |
p.(Phe218Leu) |
- |
VUS |
g.42946235G>C |
- |
PEX6(NM_000287.3):c.654C>G (p.F218L) |
- |
GNMT_000016 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
1 |
1 |
c.656A>C |
r.(?) |
p.(Gln219Pro) |
- |
pathogenic (recessive) |
g.42946233T>G |
- |
- |
- |
PEX6_000068 |
- |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
1 |
c.656del |
r.(?) |
p.(Gln219Argfs*27) |
- |
pathogenic (recessive) |
g.42946233del |
- |
656delA |
- |
PEX6_000065 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
1 |
c.659G>T |
r.(?) |
p.(Gly220Val) |
- |
pathogenic (recessive) |
g.42946230C>A |
- |
- |
- |
PEX6_000066 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+?/+?, +?/. |
2 |
1 |
c.661G>T |
r.(?) |
p.(Glu221*), p.(Glu221Ter) |
- |
likely pathogenic |
g.42946228C>A |
g.42978490C>A |
- |
- |
PEX6_000213 |
10 heterozygous, no homozygous; Clinindb (India) |
MORL Deafness Variation Database, PubMed: Richards 2015, PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs786205580 |
Germline |
- |
10/2795 individuals |
- |
- |
- |
Global Variome, with Curator vacancy, Mohammed Faruq |
?/. |
1 |
- |
c.685A>G |
r.(?) |
p.(Arg229Gly) |
- |
VUS |
g.42946204T>C |
- |
PEX6(NM_000287.3):c.685A>G (p.R229G) |
- |
GNMT_000005 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/. |
1 |
1 |
c.689_690del |
r.(?) |
p.(Glu230Valfs*11) |
- |
pathogenic (recessive) |
g.42946199_42946200del |
- |
689_670delAG |
- |
PEX6_000069 |
- |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/+, +/. |
3 |
1 |
c.689_690dup |
r.(?) |
p.(Ser232Hisfs*15) |
- |
pathogenic, pathogenic (recessive) |
g.42946199_42946200dup, g.42946203_42946204dup |
g.42978465_42978466dup |
685_686insAG |
- |
PEX6_000046, PEX6_000212 |
- |
MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Krause 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
+/+ |
1 |
1 |
c.689_690insAG |
r.(?) |
p.(Ser231Glyfs*16) |
- |
pathogenic |
g.42946199_42946200insCT |
g.42978461_42978462insCT |
- |
- |
PEX6_000210 |
- |
MORL Deafness Variation Database, PubMed: Bean 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy |
+/+ |
1 |
1 |
c.691_692insAG |
r.(?) |
p.(Ser231*) |
- |
pathogenic |
g.42946197_42946198insCT |
g.42978459_42978460insCT |
- |
- |
PEX6_000209 |
- |
MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy |
+/. |
1 |
1 |
c.727C>T |
r.727c>u |
p.Gln243* |
- |
pathogenic (recessive) |
g.42946162G>A |
g.42978424G>A |
- |
- |
PEX6_000028 |
no variant 2nd chromosome |
PubMed: Zhang 1999, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
?/. |
1 |
- |
c.740C>G |
r.(?) |
p.(Pro247Arg) |
- |
VUS |
g.42946149G>C |
- |
PEX6(NM_000287.3):c.740C>G (p.P247R) |
- |
GNMT_000011 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+?/. |
1 |
- |
c.745T>A |
r.(?) |
p.(Trp249Arg) |
- |
likely pathogenic |
g.42946144A>T |
g.42978406A>T |
- |
- |
PEX6_000236 |
- |
PubMed: Stone 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
LOVD |
+/+, +/. |
5 |
1 |
c.802_815del |
r.(?), r.619_882del, r.802_815del |
p.(Asp268Cysfs*8), p.Asp268Cysfs*8, p.Val76_Gln294del |
- |
pathogenic, pathogenic (recessive) |
g.42946074_42946087del, g.42946078_42946091del |
g.42978340_42978353del |
800-813del |
- |
PEX6_000002, PEX6_000207 |
- |
MORL Deafness Variation Database, PubMed: Matsumoto 2001, PubMed: Levesque 2012, 1 more item |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
-/. |
3 |
- |
c.813G>T |
r.(=), r.(?) |
p.(=), p.(Ala271=) |
- |
benign |
g.42946076C>A |
g.42978338C>A |
PEX6(NM_000287.3):c.813G>T (p.A271=) |
- |
PEX6_000143 |
VKGL data sharing initiative Nederland |
PubMed: Steinberg 2004, PubMed: Yik 2009 |
- |
- |
CLASSIFICATION record, Germline |
- |
0.013, 1/116 chromosomes |
- |
- |
- |
Johan den Dunnen, VKGL-NL_Rotterdam |
+/. |
2 |
1 |
c.814_817dup |
r.(?), r.814_817dup |
p.(Val273AlafsTer9), p.Val273Alafs*9 |
- |
pathogenic, pathogenic (recessive) |
g.42946073_42946076dup |
g.42978335_42978338dup |
814insCTTG |
- |
GNMT_000008, PEX6_000024 |
VKGL data sharing initiative Nederland |
PubMed: Zhang 1999, MORL Deafness Variation Database |
- |
- |
CLASSIFICATION record, Germline |
- |
- |
- |
- |
- |
Nancy Braverman, VKGL-NL_Nijmegen |
+/. |
6 |
1, 5 |
c.821C>T |
r.(?) |
p.(Pro274Leu), p.Pro274Leu |
- |
NA, pathogenic, pathogenic (recessive) |
g.42946068G>A |
g.42978330G>A |
- |
- |
PEX6_000055 |
cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.05) |
PubMed: Ratbi 2015, Journal: Ratbi 2015, PubMed: Steinberg 2004, PubMed: Yik 2009 |
- |
- |
Germline, In vitro (cloned) |
yes |
- |
- |
- |
- |
Johan den Dunnen, Jamie Zeegers, Nancy Braverman |
+/., -?/., ?/. |
3 |
- |
c.853C>G |
r.(?) |
p.(Pro285Ala) |
- |
likely benign, pathogenic (recessive), VUS |
g.42946036G>C |
g.42978298G>C |
PEX6(NM_000287.3):c.853C>G (p.P285A), PEX6(NM_000287.4):c.853C>G (p.P285A), PEX6_000010 |
- |
PEX6_000142 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record, Germline |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam, Nancy Braverman, VKGL-NL_Groningen |
+/. |
1 |
1 |
c.856del |
r.(?) |
p.(Leu286Trpfs*65) |
- |
pathogenic (recessive) |
g.42946033del |
- |
856delC |
- |
PEX6_000071 |
- |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
1 |
c.867del |
r.(?) |
p.(Glu290Serfs*61) |
- |
pathogenic (recessive) |
g.42946022del |
- |
867delA |
- |
PEX6_000067 |
- |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
2 |
1i |
c.882+1G>A |
r.spl |
p.? |
- |
pathogenic (recessive) |
g.42946006C>T |
g.42978268C>T |
541_542insT, IVS1+1G>A |
- |
PEX6_000056 |
- |
PubMed: Steinberg 2004, PubMed: Yik 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
-/. |
2 |
1i |
c.883-3T>C |
r.(?), r.spl? |
p.(-), p.? |
- |
benign |
g.42942779A>G |
g.42975041A>G |
PEX6(NM_000287.4):c.883-3T>C |
- |
PEX6_000044, PEX6_000141 |
VKGL data sharing initiative Nederland |
PubMed: Ebberink 2010 |
- |
- |
CLASSIFICATION record, Germline |
- |
0.08 |
- |
- |
- |
Nancy Braverman, VKGL-NL_Groningen |
+/. |
1 |
1i |
c.883-2A>G |
r.[883_1046del,883_884del] |
p.? |
- |
pathogenic (recessive) |
g.42942778T>C |
g.42975040T>C |
IVS1-2A>G |
- |
PEX6_000029 |
- |
PubMed: Zhang 1999, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy |
+/. |
1 |
1i_3i |
c.(882+1_883-1)_(1130+1_1131-1)del |
r.(?) |
p.? |
- |
pathogenic (recessive) |
g.(42937726_42941740)_(42942777_42946006)del |
- |
883_1130del |
- |
PEX6_000072 |
- |
PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-?/. |
1 |
- |
c.903C>T |
r.(?) |
p.(Ile301=) |
- |
likely benign |
g.42942756G>A |
g.42975018G>A |
PEX6(NM_000287.3):c.903C>T (p.I301=) |
- |
PEX6_000140 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
2 |
2 |
c.914del |
r.(?) |
p.(Asp305Alafs*46) |
- |
pathogenic (recessive) |
g.42942745del |
g.42975007del |
914delA |
- |
PEX6_000058 |
no variant 2nd chromosome reported |
PubMed: Yik 2009, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
-?/. |
1 |
- |
c.925T>G |
r.(?) |
p.(Cys309Gly) |
- |
likely benign |
g.42942734A>C |
g.42974996A>C |
PEX6(NM_000287.3):c.925T>G (p.(Cys309Gly)) |
- |
GNMT_000004 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
-?/. |
1 |
- |
c.988C>T |
r.(?) |
p.(His330Tyr) |
- |
likely benign |
g.42942671G>A |
g.42974933G>A |
PEX6(NM_000287.3):c.988C>T (p.H330Y) |
- |
GNMT_000003 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
1 |
- |
c.1027del |
r.(?) |
p.(Arg343GlyfsTer8) |
- |
pathogenic |
g.42942633del |
g.42974895del |
PEX6(NM_000287.4):c.1027delC (p.R343Gfs*8) |
- |
PEX6_000148 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Groningen |
+/. |
1 |
3 |
c.1027_1030dup |
r.(?) |
p.(His344Profs*42) |
- |
pathogenic (recessive) |
g.42942629_42942632dup |
- |
1030_1033dupCCGG |
- |
PEX6_000019 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
2i |
c.1047-2A>G |
r.spl |
p.? |
- |
pathogenic (recessive) |
g.42941826T>C |
g.42974088T>C |
- |
- |
PEX6_000201 |
- |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy |
+/+, +/. |
2 |
2i |
c.1047-1G>A |
r.spl, r.spl? |
p.? |
- |
pathogenic, pathogenic (recessive) |
g.42941825C>T |
g.42974087C>T |
- |
- |
PEX6_000073, PEX6_000200 |
- |
MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015, PubMed: Ebberink 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
+/+, +/. |
2 |
3 |
c.1054C>T |
r.(?), r.1047_1130del |
p.(Gln352*), p.Val350_Arg377del |
- |
pathogenic, pathogenic (recessive) |
g.42941817G>A |
g.42974079G>A |
- |
- |
PEX6_000075, PEX6_000199 |
no variant 2nd chromosome reported |
MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015, 1 more item |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
+/. |
1 |
3i |
c.1130+1G>A |
r.1047_1130del |
p.Val350_Arg377del |
- |
pathogenic (recessive) |
g.42941740C>T |
g.42974002C>T |
- |
- |
PEX6_000076 |
no variant 2nd chromosome |
PubMed: Fukuda 1996, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
3i |
c.1131-1G>C |
r.spl |
p.? |
- |
pathogenic (recessive) |
g.42937726C>G |
- |
- |
- |
PEX6_000077 |
- |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-?/. |
1 |
- |
c.1137G>T |
r.(?) |
p.(Arg379=) |
- |
likely benign |
g.42937719C>A |
- |
PEX6(NM_000287.3):c.1137G>T (p.R379=) |
- |
GNMT_000014 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
?/. |
1 |
- |
c.1171G>A |
r.(?) |
p.(Glu391Lys) |
- |
VUS |
g.42937685C>T |
- |
PEX6(NM_000287.3):c.1171G>A (p.E391K) |
- |
GNMT_000002 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/. |
1 |
4 |
c.1198T>A |
r.(?) |
p.(Tyr400Asn) |
- |
pathogenic (recessive) |
g.42937658A>T |
- |
- |
- |
PEX6_000078 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-?/. |
1 |
- |
c.1234-3C>T |
r.spl? |
p.? |
- |
likely benign |
g.42937542G>A |
- |
PEX6(NM_000287.3):c.1234-3C>T |
- |
GNMT_000013 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+?/. |
1 |
5 |
c.1238G>T |
r.(?) |
p.(Gly413Val) |
- |
likely pathogenic |
g.42937535C>A |
g.42969797C>A |
- |
- |
PEX6_000120 |
- |
under revision |
- |
- |
Germline |
yes |
- |
- |
- |
- |
Hanno Bolz |
+/. |
1 |
5 |
c.1301del |
r.1301del |
p.Ser434Phefs*16 |
- |
pathogenic (recessive) |
g.42937472del |
g.42969734del |
1301delC |
- |
PEX6_000030 |
- |
PubMed: Zhang 1999, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-?/. |
1 |
- |
c.1303C>A |
r.(?) |
p.(Pro435Thr) |
- |
likely benign |
g.42937470G>T |
- |
PEX6(NM_000287.3):c.1303C>A (p.P435T) |
- |
GNMT_000015 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
1 |
- |
c.1314_1320del |
r.(?) |
p.(Glu439Trpfs*9) |
- |
pathogenic (recessive) |
g.42937453_42937459del |
- |
- |
- |
PEX6_000011 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
2 |
5 |
c.1314_1321del |
r.(?) |
p.(Glu439Glyfs*3) |
ACMG |
pathogenic, pathogenic (recessive) |
g.42937452_42937459del, g.42937458_42937465del |
g.42969720_42969727del |
1314_1321delGGAGGCCT, 1 more item |
- |
PEX6_000079 |
- |
PubMed: Krause 2009, PubMed: Perea-Romero 2021 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
Nancy Braverman |
+/+, +/. |
2 |
5 |
c.1338_1339del |
r.(?) |
p.(Ala447Cysfs*17) |
- |
pathogenic |
g.42937436_42937437del |
g.42969698_42969699del |
- |
- |
PEX6_000193, PEX6_000233 |
1 heterozygous, no homozygous; Clinindb (India) |
MORL Deafness Variation Database, PubMed: Bean 2013, PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs398123303 |
Germline |
- |
1/2786 individuals |
- |
- |
- |
Global Variome, with Curator vacancy, Mohammed Faruq |
+/. |
1 |
5i |
c.1367+1del |
r.spl |
p.? |
- |
pathogenic (recessive) |
g.42937405del |
- |
1367+1delG |
- |
PEX6_000080 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
6 |
c.1404del |
r.(?) |
p.(Arg469Glyfs*11) |
- |
pathogenic (recessive) |
g.42936687del |
- |
1404delA |
- |
PEX6_000081 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
6 |
c.1415dup |
r.(?) |
p.(Gly473Argfs*13) |
- |
pathogenic (recessive) |
g.42936676dup |
- |
1415dupC |
- |
PEX6_000082 |
- |
PubMed: Krause 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
?/. |
1 |
- |
c.1463G>C |
r.(?) |
p.(Gly488Ala) |
- |
VUS |
g.42936628C>G |
- |
PEX6(NM_000287.4):c.1463G>C (p.G488A) |
- |
GNMT_000012 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Groningen |
-/. |
1 |
- |
c.1480-5C>T |
r.spl? |
p.? |
- |
benign |
g.42936241G>A |
g.42968503G>A |
PEX6(NM_000287.3):c.1480-5C>T |
- |
CNPY3_000004 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
1 |
7 |
c.1495del |
r.(?) |
p.(Leu499Serfs*49) |
- |
pathogenic (recessive) |
g.42936221del |
- |
1495delC |
- |
PEX6_000083 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
-?/. |
1 |
- |
c.1509T>C |
r.(?) |
p.(Ser503=) |
- |
likely benign |
g.42936207A>G |
g.42968469A>G |
PEX6(NM_000287.3):c.1509T>C (p.S503=) |
- |
PEX6_000139 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
1 |
7 |
c.1532T>G |
r.(?) |
p.(Leu511Arg) |
- |
pathogenic (recessive) |
g.42936184A>C |
- |
- |
- |
PEX6_000084 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
7 |
c.1553C>A |
r.(?) |
p.(Ala518Asp) |
- |
pathogenic (recessive) |
g.42936163G>T |
- |
- |
- |
PEX6_000085 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
?/. |
1 |
- |
c.1565G>C |
r.(?) |
p.(Arg522Pro) |
- |
VUS |
g.42936151C>G |
g.42968413C>G |
PEX6(NM_000287.3):c.1565G>C (p.R522P) |
- |
CNPY3_000003 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
?/. |
1 |
- |
c.1568C>G |
r.(?) |
p.(Pro523Arg) |
- |
VUS |
g.42936148G>C |
- |
PEX6(NM_000287.3):c.1568C>G (p.P523R) |
- |
CNPY3_000010 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/+ |
1 |
7 |
c.1601T>C |
r.(?) |
p.(Leu534Pro) |
- |
pathogenic |
g.42936115A>G |
g.42968377A>G |
- |
- |
PEX6_000186 |
- |
MORL Deafness Variation Database, PubMed: Najmabadi 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy |
?/. |
1 |
- |
c.1607G>A |
r.(?) |
p.(Arg536Gln) |
- |
VUS |
g.42936109C>T |
- |
PEX6(NM_000287.3):c.1607G>A (p.R536Q) |
- |
CNPY3_000008 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
-/., ?/. |
4 |
7 |
c.1646C>T |
r.(?) |
p.(Ala549Val) |
- |
benign, VUS |
g.42936070G>A |
g.42968332G>A |
PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val)) |
- |
PEX6_000059, PEX6_000138 |
VKGL data sharing initiative Nederland |
PubMed: Yik 2009, MORL Deafness Variation Database |
- |
- |
CLASSIFICATION record, Germline |
- |
- |
- |
- |
- |
Johan den Dunnen, VKGL-NL_Leiden, Nancy Braverman, VKGL-NL_Nijmegen |
-?/. |
1 |
- |
c.1677C>A |
r.(?) |
p.(Asp559Glu) |
- |
likely benign |
g.42936039G>T |
- |
PEX6(NM_000287.3):c.1677C>A (p.D559E) |
- |
CNPY3_000017 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
-?/. |
1 |
- |
c.1680C>T |
r.(?) |
p.(Pro560=) |
- |
likely benign |
g.42936036G>A |
g.42968298G>A |
PEX6(NM_000287.3):c.1680C>T (p.P560=) |
- |
PEX6_000137 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
2 |
7i |
c.1688+1G>A |
r.[1480_1866del,1368_1866del] |
p.? |
- |
pathogenic (recessive) |
g.42936027C>T |
g.42968289C>T |
- |
- |
PEX6_000025 |
- |
PubMed: Zhang 1999, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/. |
1 |
7i |
c.1689-1G>T |
r.spl |
p.? |
- |
pathogenic (recessive) |
g.42935302C>A |
- |
- |
- |
PEX6_000086 |
- |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
?/. |
1 |
- |
c.1706T>C |
r.(?) |
p.(Val569Ala) |
- |
VUS |
g.42935284A>G |
g.42967546A>G |
PEX6(NM_000287.3):c.1706T>C (p.V569A) |
- |
PEX6_000136 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/. |
1 |
8 |
c.1711G>A |
r.(?) |
p.(Ala571Thr) |
- |
pathogenic (recessive) |
g.42935279C>T |
- |
- |
- |
PEX6_000087 |
no variant 2nd chromosome reported |
PubMed: Ebberink 2010, MORL Deafness Variation Database |
- |
- |
Germline |
- |
- |
- |
- |
- |
Nancy Braverman |
+/+?, +/. |
3 |
8 |
c.1715C>T |
r.(?), r.1715c>u |
p.(Thr572Ile), p.Thr572Ile |
ACMG |
pathogenic, pathogenic (recessive) |
g.42935275G>A |
g.42967537G>A |
- |
- |
PEX6_000031, PEX6_000182 |
- |
PubMed: Raas-Rothschild 2002, MORL Deafness Variation Database, PubMed: Sharon 2019 |
- |
- |
Germline |
yes |
3/2420 IRD families |
- |
- |
- |
Global Variome, with Curator vacancy, Nancy Braverman |
+?/+?, ?/. |
3 |
8 |
c.1718C>T |
r.(?) |
p.(Thr573Ile) |
- |
likely pathogenic, VUS |
g.42935272G>A |
g.42967534G>A |
PEX6(NM_000287.3):c.1718C>T (p.T573I), PEX6(NM_000287.4):c.1718C>T (p.T573I) |
- |
PEX6_000135 |
VKGL data sharing initiative Nederland |
MORL Deafness Variation Database, PubMed: Grunert 2014 |
- |
- |
CLASSIFICATION record, Germline |
- |
- |
- |
- |
- |
Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_Groningen |