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.
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
Allele : On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
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%)
Template : Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique : technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue : tissue type used for analysis
Remarks : remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report : ID of the individual that can be publically shared, e.g. as listed in a publication
Reference : reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks : remarks about the individual
Gender : gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity : indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country : where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population : population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death : age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP : individual/phenotype 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.
Data_av : are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment : treatment of patient
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
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
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
_1_36i
c.-121660_3246+6706del
r.0?
p.0
Parent #1
-
pathogenic
g.107561696_107876285del
g.108318466_108633055del
66+119476(COL4A6)_3246+6706(COL4A5)del
-
COL4A5_001425
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
blood
-
AS
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
+/.
_1_4i
c.-87860_277-1446del
r.0?
p.0?
Parent #1
-
pathogenic
g.107595501_107810418del
g.108352271_108567188del
66+85676(COL4A6)_276+3257(COL4A5)del
-
COL4A5_001427
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
blood
-
AS
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
+/.
_1_36i
c.-86239_3246+6915del
r.0?
p.0
Parent #1
-
pathogenic
g.107597117_107876494del
g.108353887_108633264del
66+84055(COL4A6)_3246+6915(COL4A5)del
-
COL4A5_001426
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
blood
-
AS
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
+/.
_1i
c.-38333_81+1917del
r.0?
p.0?
Unknown
-
pathogenic
g.107645024_107685354del
g.108401794_108442124del
ChrX.hG19:G.107,645,023_107,685,353del
-
COL4A5_001344
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
F
-
China
Asia
-
-
-
-
1
Kwong Leong Wong
?/.
_1i
c.-38333_81+1917del
r.0?
p.0?
Maternal (confirmed)
-
VUS
g.107645024_107685354del
g.108401794_108442124del
ChrX.hG19:G.107,645,023_107,685,353del
-
COL4A5_001344
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
M
-
China
Asia
-
-
-
-
1
Kwong Leong Wong
+/.
_1_1i
c.-38333_81+1917del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.107645024_107685354del
g.108401794_108442124del
40 kb del ex1-2 COL4A6/ex1 COL4A5
-
COL4A5_001344
-
PubMed: Liu 2015 , Journal: Liu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
blood
WES
AS
-
PubMed: Liu 2015 , Journal: Liu 2015
15y-haematuria, proteinuria. Mutation in another collagen gene too - COL6A3:c.2782C >T, p.R928C. Affected mother had only a mild case of diffuse oesphageal leiomyomatosis.
M
-
China
Chinese
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.-27291_81+18040del
r.0?
p.0?
Parent #1
-
pathogenic
g.107656065_107701476del
g.108412835_108458246del
66+25107(COL4A6)_81+18040(COL4A5)del
-
COL4A5_001429
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
blood
-
AS
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.-8024_81+8068del
r.0?
p.0?
Parent #1
-
pathogenic
g.107675332_107691504del
g.108432102_108448274del
66+5840(COL4A6)_81+8068(COL4A5)del
-
COL4A5_001428
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
blood
-
AS
-
PubMed: Nozu 2017 , Journal: Nozu 2017
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-?/.
-
c.-2145G>C
r.(?)
p.(=)
Unknown
-
likely benign
g.107681211G>C
-
COL4A6(NM_001287758.1):c.24C>G (p.L8=)
-
COL4A6_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-1964G>C
r.=
p.=
Unknown
-
VUS
g.107681392G>C
g.108438162G>C
-
-
COL4A5_000819
-
NCBI
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
NCBI
-
-
-
-
-
-
-
-
-
11
Judy Savige
?/.
-
c.-16C>T
r.(?)
p.(=)
Unknown
-
VUS
g.107683340C>T
g.108440110C>T
-
-
COL4A6_000125
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-13G>A
r.(?)
p.(=)
Parent #1
-
VUS
g.107683343G>A
g.108440113G>A
190G>A
-
COL4A5_000085
-
PubMed: Hertz 2001
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
AS
-
PubMed: Hertz 2001
family 2 patients
M
-
Denmark
-
-
-
-
-
2
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107464605_107553977)_(107683437_107782975)del
-
COL4A6 E3 to COL4A5 E1del
-
COL4A5_000374
-
PubMed: Plant 1999
-
-
Germline
-
-
-
-
-
DNA
Southern, SSCA
-
-
AS
-
PubMed: Plant 1999
-
M
-
China
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107683437_107782975)del
-
COL4A6 IVS2 to COL4A5 IVS1del
-
COL4A5_000375
-
PubMed: Thielen 2003
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
AS
-
PubMed: Thielen 2003
AS & DL
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107683437_107782975)del
-
COL4A6 IVS2 to COL4A5 IVS1del
-
COL4A5_000375
-
PubMed: Thielen 2003
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
AS
-
PubMed: Thielen 2003
AS & DL
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107683437_107782975)del
-
COL4A6 E2 to COL4A5 E1del
-
COL4A5_000375
120kb deletion
PubMed: Mothes 2002
-
-
Germline
-
-
-
-
-
DNA
PCR, PFGE
-
-
AS
-
PubMed: Mothes 2002
4-generation family, 7 affecteds
F;M
-
-
white
-
-
-
-
7
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107464605_107553977)_(107683437_107782975)del
-
COL4A6 E3 to COL4A5 E1del
-
COL4A5_000374
-
PubMed: Wang 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ, Southern, SSCA
-
-
AS
-
PubMed: Wang 2002
-
-
-
China
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_107683355)_(107683437_107782975)del
-
_E1del
-
COL4A5_000985
-
PubMed: Antignac 1992
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
AS
-
PubMed: Antignac 1992
-
-
-
-
-
-
-
-
-
3
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107683437_107782975)del
-
COL4A6 E2 to COL4A5 E1del
-
COL4A5_000375
-
PubMed: Renieri 1994
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
AS
-
PubMed: Renieri 1994
-
M
-
Italy
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107683437_107782975)del
-
COL4A6 IVS2 to COL4A5 IVS1del
-
COL4A5_000375
-
PubMed: Oohashi 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ, Southern
-
-
AS
-
PubMed: Oohashi 2011
AS & DL
F
-
-
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107464605_107553977)_(107683437_107782975)del
-
COL4A6 E3 to COL4A5 E1del
-
COL4A5_000374
-
PubMed: Uliana 2011
-
-
Germline
-
-
-
-
-
DNA, RNA
arrayCGH, MLPA, RT-PCR
-
-
AS
-
PubMed: Uliana 2011
-
F
-
-
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107683437_107782975)del
-
COL4A6 E2 to COL4A5 E1del
-
COL4A5_000375
-
PubMed: Uliana 2011
-
-
Germline
-
-
-
-
-
DNA, RNA
arrayCGH, MLPA, RT-PCR
-
-
AS
-
PubMed: Uliana 2011
-
M
-
-
-
-
-
-
-
1
Judy Savige
+/+
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107683437_107782975)del
-
COL4A6 E2 to COL4A5 E1del
-
COL4A5_000375
-
Heidet
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
AS
-
Heidet
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/+
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_107683355)_(107683437_107782975)del
-
Ex1del
-
COL4A5_000985
-
Matonagel
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Matonagel
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/+
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_107683355)_(107683437_107782975)del
-
Ex1del
-
COL4A5_000985
-
Matonagel
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Matonagel
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.(?_-1)_(81+1_82-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(107464605_107553977)_(107683437_107782975)del
-
ex1 del
-
COL4A5_000374
-
PubMed: Hashimura 2014
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
?
-
-
AS
Patient ID 96
PubMed: Hashimura 2014
-
M
-
Japan
-
-
-
-
-
1
Judy Savige
+/.
_1_2i
c.(?_-1)_(141+1_142-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107783036_107802293)del
-
COL4A6 E2 to COL4A5 E2del
-
COL4A5_000978
-
PubMed: Zhang 2012
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
ATS1
-
PubMed: Zhang 2012
-
-
-
China
-
-
-
-
-
1
Judy Savige
+/+
_1_2i
c.(?_-1)_(141+1_142-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_107683355)_(107783036_107802293)del
-
Ex1_2del
-
COL4A5_000982
-
Matonagel
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Matonagel
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/.
_1_2i
c.(?_-1)_(141+1_142-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_107400229)_(107783036_107802293)
-
1-?_141+?del
-
COL4A5_000000
COL4A5 del ex1-2, COL4A6 del all ex
PubMed: Moriniere 2014 , Journal: Moriniere 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ATS2
-
PubMed: Moriniere 2014 , Journal: Moriniere 2014
-
-
-
France
-
-
-
-
-
1
Judy Savige
+/.
_1_6i
c.(?_-1)_(384+1_385-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_107683355)_(107812052_107814642)del
-
E1_E6del
-
COL4A5_000379
-
PubMed: Vetrie 1992
-
-
Germline
-
-
-
-
-
DNA
Southern, PFGE
-
-
AS
-
PubMed: Vetrie 1992
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Judy Savige
+/+
_1_7i
c.(?_-1)_(438+1_439-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_107683355)_(107814697_107815040)del
-
Ex1_7del
-
COL4A5_000984
-
Matonagel
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Matonagel
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/.
_1_13i
c.(?_-1)_(780+1_781-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(107464605_107553977)_(107821614_107823762)del
-
COL4A6 E3 to COL4A5 E13del
-
COL4A5_001365
-
PubMed: Sa 2013
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
ATS1
23958657-Fam3PatIII1
PubMed: Sa 2013
2-generation family, affected mother/son
F
-
Portugal
-
-
-
-
-
2
Maria João Nabais Sá
+/.
_1_30i
c.(?_-1)_(2509+1_2510-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(?_107683355)_(107858255_107863488)del
-
E1_E30del
-
COL4A5_000380
-
PubMed: Plant 1999
-
-
Germline
-
-
-
-
-
DNA
SSCA, Southern
-
-
AS
-
PubMed: Plant 1999
-
M
-
-
-
-
-
-
-
1
Judy Savige
+/.
_1_36i
c.(?_-1)_(3246+1_3247-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(107554059_107681171)_(107869580_107898560)del
-
COL4A6 E2 to COL4A5 E36del
-
COL4A5_001364
-
PubMed: Uliana 2011
-
-
Germline
-
-
-
-
-
DNA, RNA
arrayCGH, MLPA, RT-PCR
-
-
AS
-
PubMed: Uliana 2011
-
M
-
-
-
-
-
-
-
1
Judy Savige
+/.
_1_37i
c.(?_-1)_(3373+1_3374-1)del
r.0?
p.0?
Unknown
-
pathogenic
g.(107554059_107681171)_(107898688_107908736)del
-
-
-
COL4A5_001412
-
-
-
-
De novo
yes
-
-
-
-
DNA
MLPA
blood
-
AS
-
-
-
F
no
Czech Republic
-
01y
-
-
-
1
Pavlina Plevova
+/.
_1_53_
c.(?_-1)_(*1_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(107230000_107280000)_(108790000_108880000)del
-
COL4A5/A6 deletion
-
COL4A5_000000
1.4Mb deletion containing COL4A5, COL4A6 and surrounding genes
PubMed: Thielen 2003
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
AS
-
Thielen (2003) Hum Mutat Online, #662
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Judy Savige
+/.
_1_53_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic
g.(?_107683355)_(107939609_?)del
-
E1_E51del
-
COL4A5_000381
-
PubMed: Barker 2001
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
AS
-
PubMed: Barker 2001
-
M
-
United States
-
-
-
-
-
1
Judy Savige
+/.
_1_53_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic
g.(107100000_107250000)_(110555965_110574146)del
-
-
-
COL4A5_000000
3.3Mb deletion containing COL4A6, COL4A5, FACL4, PAK3 and DCX (partial IVS5) gene
PubMed: Hoischen 2009
-
-
De novo
-
-
-
-
-
DNA
arrayCGH
-
-
AS
-
PubMed: Hoischen 2009
-
F
-
Germany
-
-
-
-
-
1
Judy Savige
+/.
_1_53_
c.(?_-1)_(*1_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(107554059_107681171)_(107939609_?)del
-
COL4A6 E2 to COL4A5 E53del
-
COL4A5_000975
-
PubMed: Nozu 2008 , PubMed: Nozu 2009
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
ATS1
-
PubMed: Nozu 2008 , PubMed: Nozu 20093
-
F
-
Japan
-
-
-
-
-
1
Judy Savige
+/+
_1_53_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic
g.(?_107683355)_(107939609_?)del
-
Ex1_53del
-
COL4A5_000381
-
Matonagel
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Matonagel
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/.
37i_53_
c.(3373+1_3374-1)_*1167{0}
r.?
p.?
Maternal (confirmed)
ACMG
pathogenic
g.(107898688_107908736)_(107979573_?)del
g.(108655458_108665506)_(108736343_?)del
deletion ex38-53
-
COL4A5_001837
70kb deletion
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
Blood
-
ATS1
-
-
-
F
no
Kosovo
-
-
-
-
-
1
Jasmina Comic
?/.
_1_53_
c.(?_-1)_(*1_?)[2]
r.(=)|2
p.(=)|2
Unknown
-
VUS
g.(pter_cen_qter)sup
-
trisomy X (COL4A5/COL4A6dup)
-
COL4A5_001447
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ATS2
-
-
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Judy Savige
+/.
_1_1i
c.-282_(81+1_82-1){0}
r.0?
p.0?
Paternal (confirmed)
ACMG
pathogenic
g.(?_107683074)_(107683437_107782975)del
g.(?_108439844)_108440207_108539745)del
deletion ex1
-
COL4A5_001834
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
Blood
-
ATS1
-
-
-
F
no
-
-
-
-
-
-
1
Jasmina Comic
+/.
51
c.?
r.?
p.?
Unknown
-
pathogenic
g.107938638T>A
-
4945T>A (Cys1566*)
-
COL4A5_000000
Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Hashimura 2014
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
?
-
-
AS
Patient ID 132
PubMed: Hashimura 2014
-
M
-
Japan
-
-
-
-
-
1
Judy Savige
+/.
1
c.1A>G
r.(?)
p.0?
Unknown
-
pathogenic
g.107683356A>G
g.108440126A>G
Met1Val
-
COL4A5_000004
-
PubMed: Renieri 1996
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
AS
-
PubMed: Renieri 1996
family 2 patients
F;M
-
Italy
-
-
-
-
-
2
Judy Savige
+/.
1
c.1A>G
r.(?)
p.0?
Unknown
-
pathogenic
g.107683356A>G
g.108440126A>G
Met1Val
-
COL4A5_000004
-
Matonagel
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Matonagel
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/.
1
c.1A>G
r.(?)
p.0?
Unknown
-
pathogenic
g.107683356A>G
g.108440126A>G
Met1Val
-
COL4A5_000004
-
Matonagel
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Matonagel
-
-
-
-
-
-
-
-
-
1
Judy Savige
+?/.
1
c.2T>A
r.(?)
p.0?
Unknown
-
likely pathogenic
g.107683357T>A
g.108440127T>A
-
-
COL4A5_001453
-
PubMed: Fallerini 2014 , (DOI:Fallerini 2014:10.1111/cge.12258}
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ATS2
-
PubMed: Fallerini 2014 , (DOI:Fallerini 2014:10.1111/cge.12258}
-
-
-
Italy
Italian
-
-
-
-
1
Judy Savige
+/.
1
c.2T>C
r.(?)
p.0?
Unknown
-
pathogenic
g.107683357T>C
g.108440127T>C
-
-
COL4A5_001454
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ATS2
-
-
-
M
-
China
Chinese
-
-
-
-
1
Judy Savige
+/.
1
c.2_3del
r.(?)
p.0?
Unknown
-
pathogenic
g.107683357_107683358del
g.108440127_108440128del
2delTG
-
COL4A5_000631
-
King (2006) Hum Mutat 27, 1061
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
King (2006) Hum Mutat 27, 1061
-
M
-
-
-
-
-
-
-
1
Judy Savige
+?/.
1
c.2_6del
r.(?)
p.0?
Unknown
-
likely pathogenic
g.107683357_107683361del
g.108440127_108440131del
-
-
COL4A5_001455
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ATS2
-
-
-
M
-
Denmark
white
-
-
-
-
1
Judy Savige
+?/.
1
c.3G>T
r.(?)
p.0?
Unknown
-
likely pathogenic
g.107683358G>T
g.108440128G>T
p.Met1?
-
COL4A5_001456
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ATS2
-
-
-
F
-
-
-
-
-
-
-
1
Judy Savige
-/.
-
c.12T>G
r.(?)
p.(Arg4=)
Unknown
-
benign
g.107683367T>G
-
-
-
COL4A6_000139
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.13G>T
r.(?)
p.(Gly5*)
Unknown
-
pathogenic
g.107683368G>T
g.108440138G>T
213G>T
-
COL4A5_000005
-
PubMed: Cruz-Robles 1999
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
AS
-
PubMed: Cruz-Robles 1999
-
M
-
Mexico
-
-
-
-
-
1
Judy Savige
+/.
1
c.38_41dup
r.(?)
p.(Leu14Phefs*27)
Unknown
-
pathogenic
g.107683393_107683396dup
g.108440163_108440166dup
41_42insTCTT
-
COL4A5_000647
-
Hertz (2001) Hum Mutat 18, 141
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Hertz (2001) Hum Mutat 18, 141
-
-
-
-
-
-
-
-
-
1
Judy Savige
-?/.
-
c.46G>T
r.(?)
p.(Ala16Ser)
Unknown
-
likely benign
g.107683401G>T
g.108440171G>T
COL4A5(NM_033380.2):c.46G>T (p.A16S)
-
COL4A6_000126
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.49_50del
r.(?)
p.(Leu17Glufs*22)
Unknown
-
pathogenic
g.107683404_107683405del
g.108440174_108440175del
49delCT
-
COL4A5_000632
-
Ellison (2009) Hum Genet 126, 329
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Ellison (2009) Hum Genet 126, 329
-
F
-
-
-
-
-
-
-
1
Judy Savige
+/.
1
c.57_58del
r.(?)
p.(Trp20Glyfs*19)
Unknown
-
pathogenic
g.107683412_107683413del
g.108440182_108440183del
-
-
COL4A5_001457
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ATS2
-
-
-
M
-
China
Chinese
-
-
-
-
1
Judy Savige
?/.
1
c.64C>T
r.(?)
p.(Gln22*)
Unknown
-
VUS
g.107683419C>T
g.108440189C>T
gCAG-TAG
-
COL4A5_000421
-
PubMed: Pan 2004
-
-
Germline
-
-
-
-
-
DNA
DGGE
-
-
AS
-
PubMed: Pan 2004
-
F
-
China
-
-
-
-
-
1
Judy Savige
+/+?
1
c.65_77del
r.(?)
p.(Gln22Leufs*18)
Unknown
-
pathogenic
g.107683420_107683432del
g.108440190_108440202del
65delAGCCTGCAGAGGC
-
COL4A5_000772
-
PubMed: Bekheirnia 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
PubMed: Bekheirnia 2010
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/+?
1i
c.81+1G>C
r.(?)
p.(=)
Unknown
-
pathogenic
g.107683437G>C
g.108440207G>C
IVS1+1
-
COL4A5_000779
-
PubMed: Bekheirnia 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
PubMed: Bekheirnia 2010
-
-
-
-
-
-
-
-
-
1
Judy Savige
+/.
1i
c.81+1G>C
r.spl
p.?
Parent #1
-
pathogenic
g.107683437G>C
g.108440207G>C
-
-
COL4A5_000779
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ATS2
-
-
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Judy Savige
+/.
1i
c.81+1G>C
r.(?)
p.(=)
Parent #1
-
pathogenic
g.107683437G>C
g.108440207G>C
-
-
COL4A5_000779
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ATS2
-
-
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Judy Savige
+/.
1i
c.81+1G>T
r.(?)
p.(=)
Unknown
-
pathogenic
g.107683437G>T
g.108440207G>T
IVS1+1
-
COL4A5_000580
-
Pan (2004) Nephrol Dial Transplant 19, 1123
-
-
Germline
-
-
-
-
-
DNA
DGGE
-
-
AS
-
Pan (2004) Nephrol Dial Transplant 19, 1123
-
F
-
-
-
-
-
-
-
1
Judy Savige
+/.
1i
c.81+2dup
r.spl
p.?
Unknown
-
pathogenic
g.107683438dup
g.108440208dup
81+1_81+2insT
-
COL4A5_001458
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ATS2
-
-
-
M
-
China
Chinese
-
-
-
-
1
Judy Savige
+?/.
1i
c.81+4A>C
r.spl?
p.?
Unknown
-
likely pathogenic
g.107683440A>C
g.108440210A>C
-
-
COL4A5_001459
-
PubMed: Weber 2016 , Journal: Weber 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
ATS2
-
PubMed: Weber 2016 , Journal: Weber 2016
Mother and maternal aunt with Alport syndrome
M
-
Germany
-
-
-
-
-
1
Judy Savige
-?/.
1i
c.81+65del
r.(?)
p.(=)
Unknown
-
likely benign
g.107683501del
g.108440271del
-
-
COL4A5_001350
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011 , Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-/.
-
c.81+75dup
r.(=)
p.(=)
Unknown
-
benign
g.107683511dup
g.108440281dup
COL4A5(NM_000495.5):c.81+75dupG
-
COL4A5_001369
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1i
c.81+128T>C
r.(?)
p.(=)
Unknown
-
benign
g.107683564T>C
g.108440334T>C
IVS1+128
-
COL4A5_000840
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+128T>C
r.(?)
p.(=)
Unknown
-
benign
g.107683564T>C
g.108440334T>C
IVS1+128
-
COL4A5_000840
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Nigeria
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+1071A>G
r.(?)
p.(=)
Unknown
-
benign
g.107684507A>G
g.108441277A>G
IVS1+1071
-
COL4A5_000841
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+1071A>G
r.(?)
p.(=)
Unknown
-
benign
g.107684507A>G
g.108441277A>G
IVS1+1071
-
COL4A5_000841
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Nigeria
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
United States
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
Hapmap
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Hapmap
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
Hapmap
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Hapmap
-
-
-
United States
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.5
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
6F / 14M
F;M
-
United States
African American
-
-
-
-
20
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.167
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
10F / 10 M
F;M
-
-
European
-
-
-
-
20
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.083
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
11F / 9M
F;M
-
-
Asian
-
-
-
-
20
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.1
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
12F/ 18M
F;M
-
-
European
-
-
-
-
30
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.25
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
-
-
-
-
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.261
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
-
-
-
United States
European American
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.283
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
-
-
-
China
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
1
-
-
-
DNA
SEQ
-
-
AS
-
Hapmap/ NCBI
-
M
-
-
European
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.425
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
-
-
-
United States
American European
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.256
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
-
-
-
China
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+2106G>C
r.(?)
p.(=)
Unknown
-
benign
g.107685542G>C
g.108442312G>C
IVS1+2106
-
COL4A5_000847
-
HapMap/NCBI
-
-
Germline
-
0.148
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+3209A>T
r.(?)
p.(=)
Unknown
-
benign
g.107686645A>T
g.108443415A>T
IVS1+3209
-
COL4A5_000854
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+3209A>T
r.(?)
p.(=)
Unknown
-
benign
g.107686645A>T
g.108443415A>T
IVS1+3209
-
COL4A5_000854
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Nigeria
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+5129T>C
r.(?)
p.(=)
Unknown
-
benign
g.107688565T>C
g.108445335T>C
IVS1+5129
-
COL4A5_000857
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+5129T>C
r.(?)
p.(=)
Unknown
-
benign
g.107688565T>C
g.108445335T>C
IVS1+5129
-
COL4A5_000857
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Nigeria
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+6684A>G
r.(?)
p.(=)
Unknown
-
benign
g.107690120A>G
g.108446890A>G
IVS1+6684
-
COL4A5_000858
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+6684A>G
r.(?)
p.(=)
Unknown
-
benign
g.107690120A>G
g.108446890A>G
IVS1+6684
-
COL4A5_000858
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Nigeria
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+8869C>T
r.(?)
p.(=)
Unknown
-
benign
g.107692305C>T
g.108449075C>T
IVS1+8869
-
COL4A5_000859
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+8869C>T
r.(?)
p.(=)
Unknown
-
benign
g.107692305C>T
g.108449075C>T
IVS1+8869
-
COL4A5_000859
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
Nigeria
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+8869C>T
r.(?)
p.(=)
Unknown
-
benign
g.107692305C>T
g.108449075C>T
IVS1+8869
-
COL4A5_000859
-
1000 genomes
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
1000 genomes
-
-
-
United States
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+8869C>T
r.(?)
p.(=)
Unknown
-
benign
g.107692305C>T
g.108449075C>T
IVS1+8869
-
COL4A5_000859
-
Hapmap
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Hapmap
-
-
-
Japan
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+8869C>T
r.(?)
p.(=)
Unknown
-
benign
g.107692305C>T
g.108449075C>T
IVS1+8869
-
COL4A5_000859
-
Hapmap
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Hapmap
-
-
-
Nigeria
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+8869C>T
r.(?)
p.(=)
Unknown
-
benign
g.107692305C>T
g.108449075C>T
IVS1+8869
-
COL4A5_000859
-
Hapmap
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AS
-
Hapmap
-
-
-
United States
-
-
-
-
-
1
Judy Savige
-/.
1i
c.81+8869C>T
r.(?)
p.(=)
Unknown
-
benign
g.107692305C>T
g.108449075C>T
IVS1+8869
-
COL4A5_000859
-
HapMap/NCBI
-
-
Germline
-
1
-
-
-
DNA
SEQ
-
-
AS
-
HapMap/NCBI
-
-
-
Nigeria
-
-
-
-
-
1
Judy Savige