### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = B3GALT6) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "B3GALT6" "beta-1,3-galactosyltransferase 6" "1" "p36.33" "unknown" "NC_000001.10" "UD_136085744612" "" "http://www.LOVD.nl/B3GALT6" "" "1" "17978" "126792" "615291" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/B3GALT6_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-13 14:00:49" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003208" "B3GALT6" "UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6" "001" "NM_080605.3" "" "NP_542172.2" "" "" "" "-30" "2763" "990" "1167629" "1170421" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00911" "EDSSPD1" "Ehlers-Danlos, progeroid, spondylodysplastic syndrome, type 1 (EDSSPD1)" "AR" "130070" "" "" "Formerly known as progeroid syndrome." "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02082" "SEMDJL1" "dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1)" "AR" "271640" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03902" "EDSSPD2" "Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2)" "AR" "615349" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05754" "EDSSPD" "Ehlers-Danlos, spondylodysplastic syndrome (EDSSPD)" "" "" "" "" "" "00006" "2020-05-19 18:51:25" "00006" "2021-12-10 21:51:32" "05816" "ALGAZ" "Al-Gazali syndrome (ALGAZ)" "AR" "609465" "" "" "" "03701" "2020-08-24 10:56:12" "03701" "2020-08-27 16:49:38" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "B3GALT6" "02082" "B3GALT6" "03902" "B3GALT6" "05816" ## Individuals ## Do not remove or alter this header ## ## Count = 52 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00081681" "" "" "" "1" "" "01709" "" "" "M" "no" "" "" "0" "" "" "" "" "00318131" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "The patient had a sibling who was also compound heterozygous for both variants and had a similar phenotype.c.1A>G showed a decreased molecular weight ~4kD lower compared to the WT protein. The authors suggested that the translation initiation at the second ATG of the coding sequence (position c.124) would become the initiation codon, resulting in a protein change of p.Met1_Ala41del.The technique used was whole exome sequencing." "" "" "Japan" "" "0" "" "" "Japanese" "Patient 1" "00318132" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "The authors predicted the c.1A>G variant would cause a 41 amino acid deletion due to the second ATG becoming the initiating codon. The technique used was whole exome sequencing." "" "" "Japan" "" "0" "" "" "Japanese" "Patient 3" "00318133" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "The authors predicted the c.1A>G variant would result in a 41aa deletion due to the second ATG being the initiation codon." "" "" "Japan" "" "0" "" "" "Japanese" "P4" "00318134" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "The authors predicted the c.1A>G variant would result in a 41 aa deletion due to the second ATG becoming the initiating codon. The technique used was whole exome sequencing." "" "" "Japan" "" "0" "" "" "Japanese" "P5" "00318135" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "The authors predicted the c.1A>G variant would result in a 41aa deletion due to the second ATG becoming the initiating codon. The technique used was whole exome sequencing." "" "" "Japan;Singapore" "" "0" "" "" "Japanese/Singaporean" "P7" "00318136" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "India" "" "0" "" "" "Indian" "" "00318137" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Brazil" "" "0" "" "" "" "P12" "00318138" "" "" "" "1" "" "00085" "{PMID:Vorster et al., 2014:24766538}" "The patient had an unaffected sibling who only carried the c.16C>T variant." "" "" "South Africa" "" "0" "" "" "Afrikaner" "F1" "00318139" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "The technique used was the custom NGS Gene panel." "" "" "France" "" "0" "" "" "French" "" "00318140" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "A non-consanguineous couple of Caucasian origin had two pregnancies terminated because of severe skeletal dysplasia. The second pregnancy was assigned the Patient ID AN_005849.The technique used was whole exome sequencing." "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00318141" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "This patient (PIV:1) has two affected siblings with IDs AN_005842 and AN_005843." "" "" "Congo;Rwanda" "" "0" "" "" "Congolese-Rwandan" "" "00318142" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Viet Nam" "" "0" "" "" "Vietnamese" "P8" "00318143" "" "" "" "1" "" "00085" "{PMID:Honey et al., 2016:27245527}" "The patient had a brother who was also positive for both variants, and had a similar phenotype." "" "" "South Africa" "" "0" "" "" "Afrikaner" "Family 1" "00318144" "" "" "" "1" "" "00085" "{PMID:Honey et al., 2016:27245527}" "" "" "" "" "" "0" "" "" "" "Family 2" "00318145" "" "" "" "1" "" "00085" "{PMID:Ritelli et al., 2015:28649518}" "The patient had a younger sister who carried both variants and had a similar phenotype. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Patient 1" "00318146" "" "" "" "1" "" "00085" "{PMID:Vorster et al., 2014:24766538}" "" "" "" "" "" "0" "" "" "" "F3" "00318147" "" "" "" "1" "" "00085" "{PMID:Vorster et al., 2014:24766538}" "One unaffected parent\'s B3GALT6 gene was sequenced and shown to be heterozygous for c.235A>G." "" "" "South Africa" "" "0" "" "" "Afrikaner" "F8" "00318148" "" "" "" "1" "" "00085" "{PMID:Vorster et al., 2014:24766538}" "" "" "" "South Africa" "" "0" "" "" "Afrikaner" "F10" "00318149" "" "" "" "1" "" "00085" "{PMID:Caraffi et al., 2019:31614862}" "The patient was the second child of non-consanguineous parents. Three variants were detected, and variant c.308C>T was described as a variant of uncertain significance. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "Patient 3" "00318150" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2013:23664118}" "Has a younger sister, P4, of the same genotype" "" "" "Iran" "" "0" "" "" "" "P3" "00318151" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "This patient was further described in {PMID31614862:Caraffi et al., 2019}" "" "" "Italy" "" "0" "" "" "Italy" "P9" "00318152" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00318153" "" "" "" "1" "" "00085" "{PMID:Sellars et al., 2014:25149931}" "The authors have confirmed the transcript-level sequence variants that cause the amino acid substitutions.The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "" "" "00318154" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00318155" "" "" "" "1" "" "00085" "{PMID:Trejo et al., 2017:29230159}" "The proband also had two siblings who carried both variants in B3GALT6, and were positive for SEMDJL, with some clinical variability. They were also described in {PMID28229453:Ranza et al., 2017}" "" "" "" "" "0" "" "" "" "IV-5" "00318156" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "The technique used was the custom NGS Gene panel." "" "" "United States" "" "0" "" "" "USA" "" "00318157" "" "" "" "1" "" "00085" "{PMID:Alazami 2016:27023906}" "The formal ID for this family is 12DG2007.The technique used was whole exome sequencing." "" "" "Saudi Arabia" "" "0" "" "" "" "Family 9" "00318158" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Iran" "" "0" "" "" "Iranian" "" "00318159" "" "" "" "1" "" "00085" "{PMID:Alazami 2016:27023906}" "The proband has an affected cousin.The formal ID for this family is 12DG0715.The technique used was whole exome sequencing." "" "" "Saudi Arabia" "" "0" "" "" "" "Family 6" "00318160" "" "" "" "1" "" "00085" "{PMID:Alazami 2016:27023906}" "There are two affected individuals in this family.The formal ID for this family is 12DG1291.The technique used was whole genome sequencing." "" "" "Saudi Arabia" "" "0" "" "" "" "Family 7" "00318161" "" "" "" "1" "" "00085" "{PMID:Alazami 2016:27023906}" "The formal ID for this family is 12DG2397.The technique used was whole genome sequencing." "" "" "Saudi Arabia" "" "0" "" "" "" "Family 8" "00318162" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "P10, of family F9, has a younger female relative of the same genotype (relation not explicitly stated, probably a sister)" "" "" "Italy;Canada" "" "0" "" "" "Italian/Canadian" "P10" "00318163" "" "" "" "1" "" "00085" "{PMID:Ben-Mahmoud et al., 2018:29443383}" "This family was previously described in {PMID:Al-Gazali et al., 1999:10319196}. The proband had two siblings V-1, and V-2, who carried the same variants and phenotype. The authors of {PMID29443383:Ben-Mahmoud et al., 2018} suggest that Al-Gazali syndrome represents the more severe phenotype among B3GALT6-related diseases due to patients dying within the first few months of life." "" "" "Palestine" "" "0" "" "" "Palestinian" "V-2" "00318164" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2013:23664118}" "P1 has a maternal cousin, P2, of the same genotype" "" "" "Iran" "" "0" "" "" "" "P1" "00318165" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2013:23664118}" "" "" "" "Iran" "" "0" "" "" "" "P5" "00318166" "" "" "" "1" "" "00085" "{PMID:Nakajima et al., 2013:23664117}" "The technique used was whole exome sequencing." "" "" "Japan" "" "0" "" "" "Japanese" "P6" "00318167" "" "" "" "1" "" "01819" "{PMID:Van Damme et al., 2018:29931299}" "The technique used was whole exome sequencing." "" "" "United States" "" "0" "" "" "USA" "" "00318168" "" "" "" "1" "" "00085" "{PMID:Ranza et al., 2017:28229453}" "The patient initially had no clinical diagnosis, but was classified as having SEMDJL1 after molecular screening. The technique used was whole exome sequencing." "" "" "Sudan" "" "0" "" "" "" "Pat7" "00331329" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "12DG0715" "00331330" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "12DG1291, 12DG1024" "00331331" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "12DG2397" "00331332" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "12DG1024" "00331333" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "12DG2007" "00428042" "" "" "" "1" "" "04305" "{PMID:Shen et al., 2022:35734427}" "" "M" "no" "China" "" "" "" "" "" "I-1" "00428043" "" "" "" "1" "" "04305" "{PMID:Shen et al., 2022:35734427}" "" "M" "no" "China" "" "" "" "" "" "II-1" "00428044" "" "" "" "1" "" "04305" "{PMID:Shen et al., 2022:35734427}" "" "M" "no" "China" "" "" "" "" "" "II-2" "00428045" "" "" "" "1" "" "04305" "{PMID:Shen et al., 2022:35734427}" "" "F" "no" "China" "" "" "" "" "" "III-1" "00428046" "" "" "" "1" "" "04305" "{PMID:Shen et al., 2022:35734427}" "" "M" "no" "China" "" "" "" "" "" "III-2" "00465851" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, family history" "" "no" "Canada" "" "0" "" "" "" "Pat8" "00468691" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468692" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 73 "{{individualid}}" "{{diseaseid}}" "00081681" "02082" "00318131" "02082" "00318132" "02082" "00318133" "02082" "00318134" "02082" "00318135" "02082" "00318136" "00169" "00318136" "03902" "00318137" "00169" "00318137" "00911" "00318138" "02082" "00318139" "00169" "00318139" "03902" "00318140" "00169" "00318140" "03902" "00318141" "00169" "00318141" "03902" "00318142" "02082" "00318143" "02082" "00318144" "02082" "00318145" "02082" "00318146" "02082" "00318147" "02082" "00318148" "02082" "00318149" "00169" "00318149" "00911" "00318150" "00169" "00318150" "03902" "00318151" "00169" "00318151" "00911" "00318152" "00169" "00318152" "03902" "00318153" "00169" "00318153" "03902" "00318154" "00169" "00318154" "03902" "00318155" "02082" "00318156" "00169" "00318156" "03902" "00318157" "00169" "00318157" "03902" "00318158" "00169" "00318158" "03902" "00318159" "00169" "00318159" "03902" "00318160" "00169" "00318160" "03902" "00318161" "00169" "00318161" "03902" "00318162" "00169" "00318162" "00911" "00318163" "05816" "00318164" "00169" "00318164" "03902" "00318165" "00169" "00318165" "03902" "00318166" "02082" "00318167" "00169" "00318167" "03902" "00318168" "02082" "00331329" "05517" "00331330" "05517" "00331331" "05517" "00331332" "05517" "00331333" "05517" "00428042" "05754" "00428043" "05754" "00428044" "05754" "00428045" "05754" "00428046" "05754" "00465851" "00198" "00468691" "00198" "00468692" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 00911, 02082, 03902, 05517, 05754, 05816 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000061314" "02082" "00081681" "01709" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249521" "05517" "00331329" "00000" "Familial, autosomal recessive" "" "Recurrent fractures, Delayed gross motor development, Blue sclerae, Short stature, KyphoYes" "" "" "" "" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249522" "05517" "00331330" "00000" "Familial, autosomal recessive" "" "Delayed gross motor development, Osteopenia, Abnormal facial shape, Micrognathia, BluNo" "" "" "" "" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249523" "05517" "00331331" "00000" "Familial, autosomal recessive" "" "Multiple joint dislocation, Distal arthrogryposis, Aortic valve stenosis, Prominent foreheadYes" "" "" "" "" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249524" "05517" "00331332" "00000" "Familial, autosomal recessive" "" "Hypotonia, Abnormal facial shape, Cutis laxa, Wide anterior fontanel, Hypotonia, Talipes eNo" "" "" "" "" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249525" "05517" "00331333" "00000" "Familial, autosomal recessive" "" "Blue sclerae, Severe short stature, Mitral regurgitation, Joint laxity, Joint dislocation, Kyp Yes" "" "" "" "" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000318988" "05754" "00428042" "04305" "Familial, autosomal dominant" "67" "Craniofacial abnormalities, scoliosis, fifth-finger clinodactyly, restricted elbow movement, radioulnar synostosis, aclasis of right humerus and ulna" "" "" "" "" "" "" "" "" "" "" "" "" "" "Guiffre-Tsukahara syndrome" "" "0000318989" "05754" "00428043" "04305" "Familial, autosomal dominant" "41" "Craniofacial abnormalities, scoliosis, restricted elbow movement" "" "" "" "" "" "" "" "" "" "" "" "" "" "Guiffre-Tsukahara syndrome" "" "0000318990" "05754" "00428044" "04305" "Familial, autosomal dominant" "38" "Craniofacial abnormalities, scoliosis, restricted elbow movement," "" "" "" "" "" "" "" "" "" "" "" "" "" "Guiffre-Tsukahara syndrome" "" "0000318991" "05754" "00428045" "04305" "Familial, autosomal dominant" "14" "Prominent craniofacial abnormalities, joint hypermobility, scoliosis, fifth-finger clinodactyly, restricted elbow movement, soft/doughy skin" "" "" "" "" "" "" "" "" "" "" "" "" "" "Guiffre-Tsukahara syndrome" "" "0000318992" "05754" "00428046" "04305" "Familial, autosomal dominant" "7" "Prominent craniofacial abnormalities, scoliosis, fifth-finger clinodactyly, restricted elbow movement, joint hypermobility, barrel chest, soft/doughy skin." "" "" "" "" "" "" "" "" "" "" "" "" "" "Guiffre-Tsukahara syndrome" "" "0000351256" "00169" "00318157" "00006" "Familial, autosomal recessive" "" "spondyloepimetaphyseal dysplasia, rhizomelia, multiple joint dislocations of the elbows and knees, profound joint hyperlaxity, bilateral TEV, severe progressive kyphoscolio- sis, relative macrocephaly, short stature, global develop- mental delay, dysmorphism (blue sclera, downstlanting palpebral fissures, depressed nasal bridge and upturned nares), MVP, middle ear effusion and asthma GERD" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD2" "spondyloepimetaphyseal dysplasia" "" "0000351257" "00169" "00318159" "00006" "Familial, autosomal recessive" "" "severe skin and joint laxity, history of multiple fractures, blue sclera with no facial dysmorphism, severe khyphosco- liosis, marked acetabular dysplasia, bilateral radial head dislocation, developmental delay and severe short stature" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD2" "spondyloepimetaphyseal dysplasia" "" "0000351258" "00169" "00318160" "00006" "Familial, autosomal recessive" "" "severe skin and joint laxity with multiple dislocations of both small and large joints, fractures, blue sclera, facial dysmorphism, kyphoscoliosis, TEV, hypotonia, motor delay and cognitive impairment with brain atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD2" "spondyloepimetaphyseal dysplasia" "" "0000351259" "00169" "00318161" "00006" "Familial, autosomal recessive" "" "joint laxity, multiple joint dislocations, distal arthrogryposis, arachnodactyly, AS, dysmorphic features (broad promi- nent forehead, arched eyebrows, long eyelashes, deep-set eyes, mildly depressed nasal bridge with upturned nostrils, smooth lips, low-set ears and a short neck with a low hairline)" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD2" "spondyloepimetaphyseal dysplasia" "" "0000351292" "02082" "00318168" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intrauterine growth retadation; 4y-short stature (-2.5 SD); normal bone age; joint dislocations hips; hands proximal interphalangeal contractures; Swedish key appearance, progressive kyphoscoliosis, talipes equinovarus; ; malar hypoplasia, depressed nasal bridge, prominent eyes, microstomia; no intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "SEMDJL1" "chondrodysplasia, multiple dislocations" "" "0000351300" "00198" "00465851" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intrauterine growth retadation; 15y-short stature (-3.5 SD); ; joint dislocations elbows, hips; hands hypermobility of fingers; progressive scoliosis requiring surgery, dysplasia of femoral heads and acetabulae; learning difficulties; dolicocephaly, shallow orbits, narrow palate, pectus carinatum; no intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "SEMDJL1" "chondrodysplasia, multiple dislocations" "" "0000353844" "00198" "00468691" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000353845" "00198" "00468692" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 52 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081811" "00081681" "1" "01709" "01709" "2016-10-18 19:40:11" "" "" "PCR" "DNA" "Blood" "" "0000319313" "00318131" "1" "00085" "00085" "2020-05-19 15:46:06" "00085" "2020-05-20 19:44:07" "SEQ;SEQ-NG" "DNA" "" "" "0000319314" "00318132" "1" "00085" "00085" "2020-05-19 15:49:58" "00085" "2020-05-20 19:45:41" "SEQ;SEQ-NG" "DNA" "" "" "0000319315" "00318133" "1" "00085" "00085" "2020-05-19 15:53:55" "00085" "2020-05-20 19:49:00" "SEQ" "DNA" "" "" "0000319316" "00318134" "1" "00085" "00085" "2020-05-19 15:55:48" "00085" "2020-05-20 19:49:28" "SEQ;SEQ-NG" "DNA" "" "" "0000319317" "00318135" "1" "00085" "00085" "2020-05-19 16:01:41" "00085" "2020-05-20 19:50:00" "SEQ;SEQ-NG" "DNA" "" "" "0000319318" "00318136" "1" "01819" "01819" "2018-02-26 19:56:39" "00085" "2019-08-15 15:22:13" "PCR;SEQ" "DNA" "" "" "0000319319" "00318137" "1" "00085" "00085" "2016-11-28 15:22:10" "00085" "2020-05-18 19:05:02" "SEQ" "DNA" "" "" "0000319320" "00318138" "1" "00085" "00085" "2020-05-21 10:58:27" "" "" "SEQ" "DNA" "" "" "0000319321" "00318139" "1" "01819" "01819" "2018-02-26 20:07:53" "00085" "2019-08-15 15:23:37" "SEQ-NG" "DNA" "" "" "0000319322" "00318140" "1" "01819" "01819" "2018-02-26 20:11:44" "00085" "2019-08-15 15:38:12" "SEQ-NG" "DNA" "" "" "0000319323" "00318141" "1" "01819" "01819" "2018-02-26 19:39:12" "00085" "2019-08-15 15:55:58" "PCR;SEQ" "DNA" "" "" "0000319324" "00318142" "1" "00085" "00085" "2020-05-19 16:29:37" "00085" "2020-05-20 19:50:30" "SEQ" "DNA" "" "" "0000319325" "00318143" "1" "00085" "00085" "2020-05-19 16:41:04" "00085" "2020-05-20 19:51:54" "?" "DNA" "" "" "0000319326" "00318144" "1" "00085" "00085" "2020-05-19 16:43:37" "00085" "2020-05-20 19:52:25" "?" "DNA" "" "" "0000319327" "00318145" "1" "00085" "00085" "2020-05-21 14:44:43" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000319328" "00318146" "1" "00085" "00085" "2020-05-21 11:06:05" "" "" "SEQ" "DNA" "" "" "0000319329" "00318147" "1" "00085" "00085" "2020-05-21 11:33:23" "" "" "SEQ" "DNA" "" "" "0000319330" "00318148" "1" "00085" "00085" "2020-05-21 11:34:53" "" "" "SEQ" "DNA" "" "" "0000319331" "00318149" "1" "00085" "00085" "2020-05-18 19:15:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000319332" "00318150" "1" "00085" "00085" "2016-11-28 14:26:41" "00085" "2017-01-17 15:12:53" "RT-PCR;SEQ" "DNA" "" "" "0000319333" "00318151" "1" "00085" "00085" "2016-11-28 15:08:17" "00085" "2020-05-18 19:06:16" "SEQ" "DNA" "" "" "0000319334" "00318152" "1" "01819" "01819" "2018-02-26 20:02:28" "00085" "2019-08-15 16:18:57" "PCR;SEQ" "DNA" "" "" "0000319335" "00318153" "1" "00085" "00085" "2019-08-27 08:14:35" "00085" "2019-08-27 08:15:03" "SEQ-NG" "DNA" "" "" "0000319336" "00318154" "1" "01819" "01819" "2018-02-26 19:00:20" "00085" "2019-08-15 16:19:39" "PCR;SEQ" "DNA" "" "" "0000319337" "00318155" "1" "00085" "00085" "2020-05-21 13:18:58" "00085" "2020-06-09 15:35:09" "SEQ" "DNA" "" "" "0000319338" "00318156" "1" "01819" "01819" "2018-02-26 18:54:17" "00085" "2019-08-15 16:16:47" "SEQ-NG" "DNA" "" "" "0000319339" "00318157" "1" "00085" "00085" "2019-08-27 10:58:40" "00085" "2019-08-27 11:00:34" "SEQ;SEQ-NG" "DNA" "" "" "0000319340" "00318158" "1" "01819" "01819" "2018-02-26 20:05:32" "00085" "2019-08-15 16:22:07" "PCR;SEQ" "DNA" "" "" "0000319341" "00318159" "1" "00085" "00085" "2019-08-19 15:19:52" "00085" "2019-08-27 09:24:43" "SEQ;SEQ-NG" "DNA" "" "" "0000319342" "00318160" "1" "00085" "00085" "2019-08-27 09:22:33" "00085" "2019-08-27 09:24:04" "SEQ;SEQ-NG" "DNA" "" "" "0000319343" "00318161" "1" "00085" "00085" "2019-08-27 09:26:35" "00085" "2019-08-27 09:27:02" "SEQ;SEQ-NG" "DNA" "" "" "0000319344" "00318162" "1" "00085" "00085" "2016-11-28 15:13:41" "00085" "2017-01-17 15:18:34" "SEQ" "DNA" "" "" "0000319345" "00318163" "1" "00085" "00085" "2020-05-21 15:06:59" "" "" "PCR;SEQ" "DNA" "" "" "0000319346" "00318164" "1" "00085" "00085" "2016-11-28 14:08:21" "00085" "2017-01-17 15:01:43" "PCR;SEQ;arraySEQ" "DNA" "" "" "0000319347" "00318165" "1" "00085" "00085" "2016-11-28 14:34:52" "00085" "2017-01-17 14:57:04" "RT-PCR;SEQ" "DNA" "" "" "0000319348" "00318166" "1" "00085" "00085" "2020-05-19 15:57:47" "00085" "2020-05-20 19:51:03" "SEQ;SEQ-NG" "DNA" "" "" "0000319349" "00318167" "1" "01819" "01819" "2018-02-26 18:50:25" "00085" "2019-08-15 16:00:06" "SEQ-NG" "DNA" "" "" "0000319350" "00318168" "1" "00085" "00085" "2020-06-09 15:54:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332548" "00331329" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332549" "00331330" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332550" "00331331" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332551" "00331332" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332552" "00331333" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429455" "00428042" "1" "04305" "04305" "2022-12-19 21:23:28" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000429456" "00428043" "1" "04305" "04305" "2022-12-19 21:42:26" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000429457" "00428044" "1" "04305" "04305" "2022-12-19 21:50:13" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000429458" "00428045" "1" "04305" "04305" "2022-12-19 21:56:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000429459" "00428046" "1" "04305" "04305" "2022-12-19 22:06:16" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000467502" "00465851" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470359" "00468691" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470360" "00468692" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{geneid}}" "0000081811" "B3GALT6" "0000319313" "B3GALT6" "0000319314" "B3GALT6" "0000319315" "B3GALT6" "0000319316" "B3GALT6" "0000319317" "B3GALT6" "0000319318" "B3GALT6" "0000319319" "B3GALT6" "0000319320" "B3GALT6" "0000319321" "B3GALT6" "0000319322" "B3GALT6" "0000319323" "B3GALT6" "0000319324" "B3GALT6" "0000319325" "B3GALT6" "0000319326" "B3GALT6" "0000319327" "B3GALT6" "0000319328" "B3GALT6" "0000319329" "B3GALT6" "0000319330" "B3GALT6" "0000319331" "B3GALT6" "0000319332" "B3GALT6" "0000319333" "B3GALT6" "0000319334" "B3GALT6" "0000319335" "B3GALT6" "0000319336" "B3GALT6" "0000319337" "B3GALT6" "0000319338" "B3GALT6" "0000319339" "B3GALT6" "0000319340" "B3GALT6" "0000319341" "B3GALT6" "0000319342" "B3GALT6" "0000319343" "B3GALT6" "0000319344" "B3GALT6" "0000319345" "B3GALT6" "0000319346" "B3GALT6" "0000319347" "B3GALT6" "0000319348" "B3GALT6" "0000319349" "B3GALT6" "0000319350" "B3GALT6" "0000332548" "B3GALT6" "0000332549" "B3GALT6" "0000332550" "B3GALT6" "0000332551" "B3GALT6" "0000332552" "B3GALT6" "0000429455" "B3GALT6" "0000429456" "B3GALT6" "0000429457" "B3GALT6" "0000429458" "B3GALT6" "0000429459" "B3GALT6" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 115 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000132489" "11" "70" "1" "1167840" "1167840" "subst" "0" "01709" "B3GALT6_000041" "g.1167840T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.1232460T>C" "" "likely pathogenic" "" "0000132490" "0" "90" "1" "1168246" "1168246" "dup" "0" "01709" "B3GALT6_000042" "g.1168246dup" "" "" "" "588dup" "" "Germline" "" "" "0" "" "" "g.1232866dup" "" "pathogenic" "" "0000260312" "0" "30" "1" "1168173" "1168173" "subst" "0.0012408" "02329" "B3GALT6_000043" "g.1168173C>T" "" "" "" "B3GALT6(NM_080605.4):c.515C>T (p.A172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1232793C>T" "" "likely benign" "" "0000260313" "0" "10" "1" "1168180" "1168180" "subst" "0.0934503" "02329" "B3GALT6_000044" "g.1168180G>C" "" "" "" "B3GALT6(NM_080605.4):c.522G>C (p.E174D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1232800G>C" "" "benign" "" "0000260314" "0" "30" "1" "1168288" "1168288" "subst" "6.57736E-5" "02329" "B3GALT6_000045" "g.1168288G>A" "" "" "" "B3GALT6(NM_080605.4):c.630G>A (p.L210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1232908G>A" "" "likely benign" "" "0000343915" "0" "50" "1" "1168088" "1168088" "subst" "0" "02327" "B3GALT6_000018" "g.1168088G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1232708G>A" "" "VUS" "" "0000350610" "0" "50" "1" "1167839" "1167839" "subst" "0" "02327" "B3GALT6_000022" "g.1167839G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1232459G>C" "" "VUS" "" "0000473815" "0" "77" "1" "1167674" "1167674" "subst" "0" "01709" "B3GALT6_000007" "g.1167674C>T" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.1232294C>T" "" "pathogenic (recessive)" "" "0000502631" "0" "50" "1" "1164084" "1164086" "del" "0" "01804" "B3GALT6_000052" "g.1164084_1164086del" "" "" "" "SDF4(NM_016176.3):c.90_92del (p.(Leu31del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1228704_1228706del" "" "VUS" "" "0000502633" "0" "30" "1" "1167982" "1167982" "subst" "0.000115812" "02329" "B3GALT6_000053" "g.1167982C>A" "" "" "" "B3GALT6(NM_080605.4):c.324C>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1232602C>A" "" "likely benign" "" "0000502634" "0" "30" "1" "1168173" "1168173" "subst" "0.0012408" "01943" "B3GALT6_000043" "g.1168173C>T" "" "" "" "B3GALT6(NM_080605.4):c.515C>T (p.A172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1232793C>T" "" "likely benign" "" "0000604691" "0" "30" "1" "1168177" "1168177" "subst" "0" "01943" "B3GALT6_000054" "g.1168177C>T" "" "" "" "B3GALT6(NM_080605.4):c.519C>T (p.R173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1232797C>T" "" "likely benign" "" "0000604692" "0" "30" "1" "1168198" "1168198" "subst" "0" "01943" "B3GALT6_000055" "g.1168198C>A" "" "" "" "B3GALT6(NM_080605.4):c.540C>A (p.R180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1232818C>A" "" "likely benign" "" "0000604693" "0" "30" "1" "1168393" "1168393" "subst" "0" "01943" "B3GALT6_000056" "g.1168393G>C" "" "" "" "B3GALT6(NM_080605.4):c.735G>C (p.L245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1233013G>C" "" "likely benign" "" "0000604694" "0" "50" "1" "1168491" "1168491" "subst" "0" "02329" "B3GALT6_000057" "g.1168491C>T" "" "" "" "B3GALT6(NM_080605.4):c.833C>T (p.T278M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1233111C>T" "" "VUS" "" "0000604695" "0" "50" "1" "1168553" "1168553" "subst" "8.90657E-5" "01943" "B3GALT6_000058" "g.1168553C>A" "" "" "" "B3GALT6(NM_080605.4):c.895C>A (p.L299M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1233173C>A" "" "VUS" "" "0000687823" "0" "70" "1" "1168246" "1168246" "dup" "0" "01943" "B3GALT6_000042" "g.1168246dup" "" "" "" "B3GALT6(NM_080605.3):c.588dup (p.(Arg197Alafs*246)), B3GALT6(NM_080605.4):c.588dupG (p.R197Afs*246)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000701995" "1" "77" "1" "1167659" "1167659" "subst" "0" "00085" "B3GALT6_000028" "g.1167659A>G" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701996" "1" "77" "1" "1167659" "1167659" "subst" "0" "00085" "B3GALT6_000028" "g.1167659A>G" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701997" "0" "77" "1" "1167659" "1167659" "subst" "0" "00085" "B3GALT6_000028" "g.1167659A>G" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701998" "1" "77" "1" "1167659" "1167659" "subst" "0" "00085" "B3GALT6_000028" "g.1167659A>G" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701999" "1" "77" "1" "1167659" "1167659" "subst" "0" "00085" "B3GALT6_000028" "g.1167659A>G" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702000" "0" "99" "1" "1167661" "1167661" "subst" "0" "01819" "B3GALT6_000016" "g.1167661G>A" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702001" "1" "97" "1" "1167674" "1167674" "subst" "0" "00085" "B3GALT6_000007" "g.1167674C>T" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702002" "0" "77" "1" "1167674" "1167674" "subst" "0" "00085" "B3GALT6_000007" "g.1167674C>T" "" "{PMID:Vorster et al., 2014:24766538}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702003" "0" "99" "1" "1167735" "1167735" "subst" "0" "01819" "B3GALT6_000020" "g.1167735T>C" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702004" "0" "99" "1" "1167839" "1167839" "subst" "0" "01819" "B3GALT6_000022" "g.1167839G>C" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702005" "2" "77" "1" "1167851" "1167851" "subst" "0" "00085" "B3GALT6_000032" "g.1167851A>G" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702006" "0" "99" "1" "1167855" "1167911" "del" "0" "01819" "B3GALT6_000014" "g.1167855_1167911del" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702007" "2" "77" "1" "1167858" "1167858" "subst" "0" "00085" "B3GALT6_000033" "g.1167858C>T" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702008" "11" "77" "1" "1167858" "1167858" "subst" "0" "00085" "B3GALT6_000033" "g.1167858C>T" "" "{PMID:Honey et al., 2016:27245527}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702009" "21" "97" "1" "1167858" "1167858" "subst" "0" "00085" "B3GALT6_000033" "g.1167858C>T" "" "{PMID:Honey et al., 2016:27245527}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702010" "0" "77" "1" "1167858" "1167858" "subst" "0" "00085" "B3GALT6_000033" "g.1167858C>T" "" "{PMID:Vorster et al., 2014:24766538}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702011" "21" "99" "1" "1167885" "1167885" "del" "0" "00085" "B3GALT6_000037" "g.1167885del" "" "{PMID:Ritelli et al., 2015:28649518}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702012" "20" "77" "1" "1167893" "1167893" "subst" "0" "00085" "B3GALT6_000034" "g.1167893A>G" "" "{PMID:Honey et al., 2016:27245527}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702013" "11" "97" "1" "1167893" "1167893" "subst" "0" "00085" "B3GALT6_000034" "g.1167893A>G" "" "{PMID:Honey et al., 2016:27245527}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702014" "3" "77" "1" "1167893" "1167893" "subst" "0" "00085" "B3GALT6_000034" "g.1167893A>G" "" "{PMID:Vorster et al., 2014:24766538}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702015" "3" "77" "1" "1167893" "1167893" "subst" "0" "00085" "B3GALT6_000034" "g.1167893A>G" "" "{PMID:Vorster et al., 2014:24766538}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702016" "3" "77" "1" "1167893" "1167893" "subst" "0" "00085" "B3GALT6_000034" "g.1167893A>G" "" "{PMID:Vorster et al., 2014:24766538}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702017" "11" "11" "1" "1167966" "1167966" "subst" "0" "00085" "B3GALT6_000026" "g.1167966C>T" "" "{PMID:Caraffi et al., 2019:31614862}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000702018" "1" "99" "1" "1167981" "1168002" "del" "0" "00085" "B3GALT6_000002" "g.1167981_1168002del" "" "{PMID:Malfait et al., 2013:23664118}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702019" "1" "99" "1" "1168011" "1168011" "del" "2.50075E-5" "00085" "B3GALT6_000004" "g.1168011del" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702020" "11" "99" "1" "1168011" "1168011" "del" "2.50075E-5" "00085" "B3GALT6_000004" "g.1168011del" "" "{PMID:Caraffi et al., 2019:31614862}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702021" "2" "97" "1" "1168073" "1168081" "del" "0" "00085" "B3GALT6_000008" "g.1168073_1168081del" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702022" "0" "99" "1" "1168088" "1168088" "subst" "0" "01819" "B3GALT6_000018" "g.1168088G>A" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702023" "2" "77" "1" "1168124" "1168124" "subst" "0" "00085" "B3GALT6_000030" "g.1168124G>A" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702024" "21" "99" "1" "1168134" "1168134" "subst" "0" "00085" "B3GALT6_000024" "g.1168134C>A" "" "{PMID:Sellars et al., 2014:25149931}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702025" "0" "99" "1" "1168135" "1168135" "del" "0" "01819" "B3GALT6_000012" "g.1168135del" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702026" "11" "77" "1" "1168169" "1168169" "subst" "0" "00085" "B3GALT6_000036" "g.1168169C>T" "" "{PMID:Trejo et al., 2017:29230159}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702027" "0" "99" "1" "1168171" "1168178" "del" "0" "01819" "B3GALT6_000011" "g.1168171_1168178del" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702028" "0" "99" "1" "1168171" "1168178" "del" "0" "01819" "B3GALT6_000011" "g.1168171_1168178del" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702029" "0" "99" "1" "1168171" "1168178" "del" "0" "01819" "B3GALT6_000011" "g.1168171_1168178del" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702030" "3" "99" "1" "1168194" "1168199" "dup" "0" "00085" "B3GALT6_000025" "g.1168194_1168199dup" "" "{PMID:Alazami 2016:27023906}" "" "536_541dupGCCGCC" "" "Unknown" "" "" "0" "" "" "g.1232814_1232819dup" "" "pathogenic" "" "0000702031" "3" "99" "1" "1168203" "1168203" "subst" "0" "01819" "B3GALT6_000019" "g.1168203A>G" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702032" "3" "99" "1" "1168214" "1168214" "subst" "0" "00085" "B3GALT6_000023" "g.1168214T>C" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702033" "3" "99" "1" "1168214" "1168214" "subst" "0" "00085" "B3GALT6_000023" "g.1168214T>C" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702034" "3" "99" "1" "1168214" "1168214" "subst" "0" "00085" "B3GALT6_000023" "g.1168214T>C" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702035" "1" "99" "1" "1168246" "1168246" "del" "0" "00085" "B3GALT6_000006" "g.1168246del" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702036" "3" "97" "1" "1168276" "1168276" "subst" "0" "00085" "B3GALT6_000039" "g.1168276C>G" "" "{PMID:Ben-Mahmoud et al., 2018:29443383}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702037" "3" "99" "1" "1168277" "1168277" "subst" "0" "00085" "B3GALT6_000001" "g.1168277G>C" "" "{PMID:Malfait et al., 2013:23664118}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702038" "2" "99" "1" "1168277" "1168277" "subst" "0" "00085" "B3GALT6_000001" "g.1168277G>C" "" "{PMID:Malfait et al., 2013:23664118}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702039" "0" "99" "1" "1168289" "1168289" "subst" "0" "01819" "B3GALT6_000017" "g.1168289C>T" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702040" "3" "99" "1" "1168307" "1168307" "subst" "0" "00085" "B3GALT6_000003" "g.1168307G>A" "" "{PMID:Malfait et al., 2013:23664118}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702041" "2" "77" "1" "1168352" "1168352" "subst" "1.21898E-5" "00085" "B3GALT6_000029" "g.1168352C>T" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702042" "2" "77" "1" "1168352" "1168352" "subst" "1.21898E-5" "00085" "B3GALT6_000029" "g.1168352C>T" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702043" "1" "77" "1" "1168352" "1168352" "subst" "1.21898E-5" "00085" "B3GALT6_000029" "g.1168352C>T" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702044" "1" "77" "1" "1168352" "1168352" "subst" "1.21898E-5" "00085" "B3GALT6_000029" "g.1168352C>T" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702045" "11" "77" "1" "1168424" "1168424" "subst" "0" "00085" "B3GALT6_000038" "g.1168424C>T" "" "{PMID:Ritelli et al., 2015:28649518}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702046" "0" "99" "1" "1168440" "1168440" "subst" "0" "01819" "B3GALT6_000013" "g.1168440G>A" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702047" "0" "99" "1" "1168453" "1168453" "subst" "0" "01819" "B3GALT6_000009" "g.1168453A>C" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702048" "11" "99" "1" "1168453" "1168453" "subst" "0" "00085" "B3GALT6_000009" "g.1168453A>C" "" "{PMID:Sellars et al., 2014:25149931}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702049" "0" "99" "1" "1168466" "1168466" "subst" "0" "01819" "B3GALT6_000021" "g.1168466G>A" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702050" "3" "77" "1" "1168503" "1168504" "delins" "0" "00085" "B3GALT6_000040" "g.1168503_1168504delinsTA" "" "{PMID:Ranza et al., 2017:28229453}" "" "" "" "Unknown" "" "" "0" "" "" "g.1233123_1233124delinsTA" "" "likely pathogenic" "" "0000702051" "2" "77" "1" "1168557" "1168557" "subst" "0" "00085" "B3GALT6_000031" "g.1168557G>C" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702052" "21" "77" "1" "1168559" "1168579" "dup" "0" "00085" "B3GALT6_000035" "g.1168559_1168579dup" "" "{PMID:Trejo et al., 2017:29230159}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702053" "2" "97" "1" "1168583" "1168583" "subst" "0" "00085" "B3GALT6_000005" "g.1168583T>A" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702054" "2" "97" "1" "1168583" "1168583" "subst" "0" "00085" "B3GALT6_000005" "g.1168583T>A" "" "{PMID:Nakajima et al., 2013:23664117}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000702055" "0" "99" "1" "1168583" "1168583" "subst" "0" "01819" "B3GALT6_000005" "g.1168583T>A" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702056" "0" "99" "1" "1168587" "1168587" "subst" "0" "01819" "B3GALT6_000010" "g.1168587A>G" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702057" "0" "99" "1" "1168611" "1168611" "subst" "0" "01819" "B3GALT6_000015" "g.1168611C>T" "" "{PMID:Van Damme et al., 2018:29931299}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000702058" "21" "77" "1" "1168645" "1168647" "del" "0" "00085" "B3GALT6_000027" "g.1168645_1168647del" "" "{PMID:Caraffi et al., 2019:31614862}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000716709" "0" "30" "1" "1167680" "1167694" "dup" "0" "02329" "B3GALT6_000059" "g.1167680_1167694dup" "" "" "" "B3GALT6(NM_080605.4):c.22_36dupTGGCGGCGGCGGGCG (p.W8_A12dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716710" "0" "50" "1" "1168039" "1168039" "subst" "0" "01943" "B3GALT6_000060" "g.1168039C>G" "" "" "" "B3GALT6(NM_080605.4):c.381C>G (p.D127E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716711" "0" "30" "1" "1168141" "1168141" "subst" "0.00135064" "01943" "B3GALT6_000061" "g.1168141G>A" "" "" "" "B3GALT6(NM_080605.4):c.483G>A (p.A161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716712" "0" "30" "1" "1168483" "1168483" "subst" "0" "01943" "B3GALT6_000062" "g.1168483C>T" "" "" "" "B3GALT6(NM_080605.4):c.825C>T (p.Y275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729830" "3" "90" "1" "1168214" "1168214" "subst" "0" "00000" "B3GALT6_000023" "g.1168214T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_080605.3:c.556T>C:p.(Phe186Leu)" "" "Germline" "" "" "0" "" "" "g.1232834T>C" "" "pathogenic (recessive)" "" "0000729831" "3" "90" "1" "1168214" "1168214" "subst" "0" "00000" "B3GALT6_000023" "g.1168214T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_080605.3:c.556T>C:p.(Phe186Leu)" "" "Germline" "" "" "0" "" "" "g.1232834T>C" "" "pathogenic (recessive)" "" "0000729832" "3" "90" "1" "1168214" "1168214" "subst" "0" "00000" "B3GALT6_000023" "g.1168214T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_080605.3:c.556T>C:p.(Phe186Leu)" "" "Germline" "" "" "0" "" "" "g.1232834T>C" "" "pathogenic (recessive)" "" "0000729833" "3" "90" "1" "1168214" "1168214" "subst" "0" "00000" "B3GALT6_000023" "g.1168214T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_080605.3:c.556T>C:p.(Phe186Leu)" "" "Germline" "" "" "0" "" "" "g.1232834T>C" "" "pathogenic (recessive)" "" "0000729834" "3" "90" "1" "1168194" "1168199" "dup" "0" "00000" "B3GALT6_000025" "g.1168194_1168199dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_080605.3:c.536_541dupGCCGCC:p.(Arg179_Arg180dup)" "" "Germline" "" "" "0" "" "" "g.1232814_1232819dup" "" "pathogenic (recessive)" "" "0000882702" "0" "30" "1" "1167675" "1167675" "subst" "0" "02329" "B3GALT6_000063" "g.1167675G>A" "" "" "" "B3GALT6(NM_080605.4):c.17G>A (p.R6Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882703" "0" "30" "1" "1168135" "1168135" "subst" "0.000148509" "02329" "B3GALT6_000064" "g.1168135C>T" "" "" "" "B3GALT6(NM_080605.4):c.477C>T (p.S159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882704" "0" "70" "1" "1168246" "1168246" "dup" "0" "01804" "B3GALT6_000042" "g.1168246dup" "" "" "" "B3GALT6(NM_080605.3):c.588dup (p.(Arg197Alafs*246)), B3GALT6(NM_080605.4):c.588dupG (p.R197Afs*246)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908950" "10" "79" "1" "1168168" "1168175" "del" "3.46196E-5" "04305" "B3GALT6_000065" "g.1168168_1168175del" "" "{PMID:Shen et al., 2022:35734427}" "" "" "" "Germline" "" "" "0" "" "" "g.1232791_1232798del" "" "likely pathogenic" "ACMG" "0000908951" "10" "79" "1" "1168168" "1168175" "del" "3.46196E-5" "04305" "B3GALT6_000065" "g.1168168_1168175del" "" "{PMID:Shen et al., 2022:35734427}" "" "" "" "Germline" "" "" "0" "" "" "g.1232791_1232798del" "" "likely pathogenic" "ACMG" "0000908952" "10" "70" "1" "1168168" "1168175" "del" "3.46196E-5" "04305" "B3GALT6_000065" "g.1168168_1168175del" "" "{PMID:Shen et al., 2022:35734427}" "" "" "" "Germline" "" "" "0" "" "" "g.1232791_1232798del" "" "likely pathogenic" "ACMG" "0000908953" "10" "79" "1" "1168168" "1168175" "del" "3.46196E-5" "04305" "B3GALT6_000065" "g.1168168_1168175del" "" "{PMID:Shen et al., 2022:35734427}" "" "" "" "Germline" "" "" "0" "" "" "g.1232791_1232798del" "" "likely pathogenic" "ACMG" "0000908954" "0" "77" "1" "1168541" "1168541" "subst" "3.68335E-5" "04305" "B3GALT6_000066" "g.1168541C>T" "" "{PMID:Shen et al., 2022:35734427}" "" "" "" "Germline" "" "" "0" "" "" "g.1233161C>T" "" "VUS" "ACMG" "0000908955" "11" "70" "1" "1168168" "1168175" "del" "3.46196E-5" "04305" "B3GALT6_000065" "g.1168168_1168175del" "" "{PMID:Shen et al., 2022:35734427}" "" "" "" "Germline" "" "" "0" "" "" "g.1232791_1232798del" "" "likely pathogenic" "ACMG" "0000908956" "21" "70" "1" "1168541" "1168541" "subst" "3.68335E-5" "04305" "B3GALT6_000066" "g.1168541C>T" "" "{PMID:Shen et al., 2022:35734427}" "" "" "" "Germline" "" "" "0" "" "" "g.1233161C>T" "" "VUS" "ACMG" "0000910750" "0" "50" "1" "1168084" "1168084" "subst" "0" "02327" "B3GALT6_000067" "g.1168084G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910751" "0" "30" "1" "1168588" "1168588" "subst" "0" "02329" "B3GALT6_000068" "g.1168588C>T" "" "" "" "B3GALT6(NM_080605.4):c.930C>T (p.Y310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922921" "0" "30" "1" "1168141" "1168141" "subst" "0.00135064" "02329" "B3GALT6_000061" "g.1168141G>A" "" "" "" "B3GALT6(NM_080605.4):c.483G>A (p.A161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922922" "0" "50" "1" "1168476" "1168476" "subst" "5.58701E-5" "01804" "B3GALT6_000069" "g.1168476A>G" "" "" "" "B3GALT6(NM_080605.3):c.818A>G (p.(Asn273Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946939" "0" "30" "1" "1168576" "1168576" "subst" "0" "02329" "B3GALT6_000070" "g.1168576G>T" "" "" "" "B3GALT6(NM_080605.4):c.918G>T (p.L306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960396" "0" "30" "1" "1167796" "1167796" "subst" "0.0731707" "02329" "B3GALT6_000071" "g.1167796C>T" "" "" "" "B3GALT6(NM_080605.4):c.138C>T (p.S46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024015" "0" "50" "1" "1168565" "1168565" "subst" "0" "02327" "B3GALT6_000072" "g.1168565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024016" "0" "70" "1" "1168646" "1168646" "subst" "0" "02327" "B3GALT6_000073" "g.1168646T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031088" "0" "30" "1" "1163881" "1163881" "subst" "6.96658E-5" "01804" "B3GALT6_000074" "g.1163881C>T" "" "" "" "SDF4(NM_016176.6):c.272G>A (p.(Arg91Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031089" "0" "50" "1" "1168023" "1168025" "dup" "0" "01804" "B3GALT6_000075" "g.1168023_1168025dup" "" "" "" "B3GALT6(NM_080605.4):c.365_367dup (p.(Leu122dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031090" "0" "50" "1" "1168212" "1168212" "subst" "1.57873E-5" "01804" "B3GALT6_000076" "g.1168212T>G" "" "" "" "B3GALT6(NM_080605.4):c.554T>G (p.(Phe185Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045314" "1" "90" "1" "1168559" "1168579" "dup" "0" "00006" "B3GALT6_000035" "g.1168559_1168579dup" "" "{PMID:Ranza 2017:28229453}" "" "" "" "Germline" "" "" "0" "" "" "g.1233179_1233199dup" "" "pathogenic (recessive)" "" "0001045324" "2" "90" "1" "1168169" "1168169" "subst" "0" "00006" "B3GALT6_000036" "g.1168169C>T" "" "{PMID:Ranza 2017:28229453}" "" "" "" "Germline" "" "" "0" "" "" "g.1232789C>T" "" "pathogenic (recessive)" "" "0001058481" "0" "90" "1" "1168453" "1168453" "subst" "0" "00006" "B3GALT6_000009" "g.1168453A>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.1233073A>C" "" "pathogenic" "" "0001058482" "0" "90" "1" "1168134" "1168134" "subst" "0" "00006" "B3GALT6_000024" "g.1168134C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.1232754C>A" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes B3GALT6 ## Count = 115 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000132489" "00003208" "70" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Val61Ala)" "1" "" "" "0000132490" "00003208" "90" "588" "0" "588" "0" "c.588dup" "r.(?)" "p.(Arg197Alafs*246)" "1" "" "" "0000260312" "00003208" "30" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "" "" "" "0000260313" "00003208" "10" "522" "0" "522" "0" "c.522G>C" "r.(?)" "p.(Glu174Asp)" "" "" "" "0000260314" "00003208" "30" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Leu210=)" "" "" "" "0000343915" "00003208" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Asp144Asn)" "" "" "" "0000350610" "00003208" "50" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Val61Leu)" "" "" "" "0000473815" "00003208" "77" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Trp)" "1" "" "" "0000502631" "00003208" "50" "-3575" "0" "-3573" "0" "c.-3575_-3573del" "r.(?)" "p.(=)" "" "" "" "0000502633" "00003208" "30" "324" "0" "324" "0" "c.324C>A" "r.(?)" "p.(Ala108=)" "" "" "" "0000502634" "00003208" "30" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "" "" "" "0000604691" "00003208" "30" "519" "0" "519" "0" "c.519C>T" "r.(?)" "p.(Arg173=)" "" "" "" "0000604692" "00003208" "30" "540" "0" "540" "0" "c.540C>A" "r.(?)" "p.(Arg180=)" "" "" "" "0000604693" "00003208" "30" "735" "0" "735" "0" "c.735G>C" "r.(?)" "p.(Leu245=)" "" "" "" "0000604694" "00003208" "50" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Thr278Met)" "" "" "" "0000604695" "00003208" "50" "895" "0" "895" "0" "c.895C>A" "r.(?)" "p.(Leu299Met)" "" "" "" "0000687823" "00003208" "70" "588" "0" "588" "0" "c.588dup" "r.(?)" "p.(Arg197AlafsTer246)" "" "" "" "0000701995" "00003208" "77" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "substitution" "initiating methionine" "0000701996" "00003208" "77" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "substitution" "initiating methionine" "0000701997" "00003208" "77" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "substitution" "initiating methionine" "0000701998" "00003208" "77" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "substitution" "initiating methionine" "0000701999" "00003208" "77" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "substitution" "initiating methionine" "0000702000" "00003208" "99" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "1" "substitution" "initiating methionine" "0000702001" "00003208" "97" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Trp)" "1" "substitution" "missense" "0000702002" "00003208" "77" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Trp)" "1" "substitution" "missense" "0000702003" "00003208" "99" "77" "0" "77" "0" "c.77T>C" "r.(?)" "p.(Leu26Pro)" "1" "substitution" "missense" "0000702004" "00003208" "99" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Val61Leu)" "1" "substitution" "missense" "0000702005" "00003208" "77" "193" "0" "193" "0" "c.193A>G" "r.(?)" "p.(Ser65Gly)" "1" "substitution" "missense" "0000702006" "00003208" "99" "197" "0" "253" "0" "c.197_253del" "r.(?)" "p.(Ala66_Arg84del)" "1" "deletion" "deletion" "0000702007" "00003208" "77" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Pro67Leu)" "1" "substitution" "missense" "0000702008" "00003208" "77" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Pro67Leu)" "1" "substitution" "missense" "0000702009" "00003208" "97" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Pro67Leu)" "1" "substitution" "missense" "0000702010" "00003208" "77" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Pro67Leu)" "1" "substitution" "missense" "0000702011" "00003208" "99" "227" "0" "227" "0" "c.227del" "r.(?)" "p.(Ile76Thrfs*202)" "1" "deletion" "frameshift" "0000702012" "00003208" "77" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "1" "substitution" "missense" "0000702013" "00003208" "97" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "1" "substitution" "missense" "0000702014" "00003208" "77" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "1" "substitution" "missense" "0000702015" "00003208" "77" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "1" "substitution" "missense" "0000702016" "00003208" "77" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "1" "substitution" "missense" "0000702017" "00003208" "11" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ala103Val)" "1" "substitution" "missense" "0000702018" "00003208" "99" "323" "0" "344" "0" "c.323_344del" "r.(?)" "p.(Ala108Glyfs∗163)" "1" "deletion" "nonsense" "0000702019" "00003208" "99" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Asp118Alafs*160)" "1" "deletion" "nonsense" "0000702020" "00003208" "99" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Asp118Alafs*160)" "1" "deletion" "nonsense" "0000702021" "00003208" "97" "415" "0" "423" "0" "c.415_423del" "r.(?)" "p.(Met139Ala141del)" "1" "deletion" "deletion" "0000702022" "00003208" "99" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Asp144Asn)" "1" "substitution" "missense" "0000702023" "00003208" "77" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Asp156Asn)" "1" "substitution" "missense" "0000702024" "00003208" "99" "476" "0" "476" "0" "c.476C>A" "r.(?)" "p.(Ser159Tyr)" "1" "substitution" "missense" "0000702025" "00003208" "99" "477" "0" "477" "0" "c.477del" "r.(?)" "p.(Phe160Serfs*118)" "1" "deletion" "frameshift" "0000702026" "00003208" "77" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "1" "substitution" "missense" "0000702027" "00003208" "99" "513" "0" "520" "0" "c.513_520del" "r.(?)" "p.(Glu174Alafs*266)" "1" "deletion" "frameshift" "0000702028" "00003208" "99" "513" "0" "520" "0" "c.513_520del" "r.(?)" "p.(Glu174Alafs*266)" "1" "deletion" "frameshift" "0000702029" "00003208" "99" "513" "0" "520" "0" "c.513_520del" "r.(?)" "p.(Glu174Alafs*266)" "1" "deletion" "frameshift" "0000702030" "00003208" "99" "536" "0" "541" "0" "c.536_541dup" "r.(?)" "p.(Arg179_Arg180dup)" "1" "duplication" "duplication" "0000702031" "00003208" "99" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Tyr182Cys)" "1" "substitution" "missense" "0000702032" "00003208" "99" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Phe186Leu)" "1" "substitution" "missense" "0000702033" "00003208" "99" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Phe186Leu)" "1" "substitution" "missense" "0000702034" "00003208" "99" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Phe186Leu)" "1" "substitution" "missense" "0000702035" "00003208" "99" "588" "0" "588" "0" "c.588del" "r.(?)" "p.(Arg197Alafs∗81)" "1" "deletion" "nonsense" "0000702036" "00003208" "97" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Cys206Trp)" "1" "substitution" "missense" "0000702037" "00003208" "99" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Asp207His)" "1" "substitution" "missense" "0000702038" "00003208" "99" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Asp207His)" "1" "substitution" "missense" "0000702039" "00003208" "99" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Pro211Ser)" "1" "substitution" "missense" "0000702040" "00003208" "99" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Gly217Ser)" "1" "substitution" "missense" "0000702041" "00003208" "77" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Cys)" "1" "substitution" "missense" "0000702042" "00003208" "77" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Cys)" "1" "substitution" "missense" "0000702043" "00003208" "77" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Cys)" "1" "substitution" "missense" "0000702044" "00003208" "77" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Cys)" "1" "substitution" "missense" "0000702045" "00003208" "77" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Trp)" "1" "substitution" "missense" "0000702046" "00003208" "99" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "1" "substitution" "missense" "0000702047" "00003208" "99" "795" "0" "795" "0" "c.795A>C" "r.(?)" "p.(Glu265Asp)" "1" "substitution" "missense" "0000702048" "00003208" "99" "795" "0" "795" "0" "c.795A>C" "r.(?)" "p.(Glu265Asp)" "1" "substitution" "missense" "0000702049" "00003208" "99" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Ser)" "1" "substitution" "missense" "0000702050" "00003208" "77" "845" "0" "846" "0" "c.845_846delinsTA" "r.(?)" "p.(Ser282Ile)" "1" "delins" "missense" "0000702051" "00003208" "77" "899" "0" "899" "0" "c.899G>C" "r.(?)" "p.(Cys300Ser)" "1" "substitution" "missense" "0000702052" "00003208" "77" "901" "0" "921" "0" "c.901_921dup" "r.(?)" "p.(Lys301_Arg307dup)" "1" "duplication" "duplication" "0000702053" "00003208" "97" "925" "0" "925" "0" "c.925T>A" "r.(?)" "p.(Ser309Thr)" "1" "substitution" "missense" "0000702054" "00003208" "97" "925" "0" "925" "0" "c.925T>A" "r.(?)" "p.(Ser309Thr)" "1" "substitution" "missense" "0000702055" "00003208" "99" "925" "0" "925" "0" "c.925T>A" "r.(?)" "p.(Ser309Thr)" "1" "substitution" "missense" "0000702056" "00003208" "99" "929" "0" "929" "0" "c.929A>G" "r.(?)" "p.(Tyr310Cys)" "1" "substitution" "missense" "0000702057" "00003208" "99" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Pro318Leu)" "1" "substitution" "missense" "0000702058" "00003208" "77" "987" "0" "989" "0" "c.987_989del" "r.(?)" "p.(*330Alaext*72)" "1" "deletion" "frameshift" "0000716709" "00003208" "30" "22" "0" "36" "0" "c.22_36dup" "r.(?)" "p.(Trp8_Ala12dup)" "" "" "" "0000716710" "00003208" "50" "381" "0" "381" "0" "c.381C>G" "r.(?)" "p.(Asp127Glu)" "" "" "" "0000716711" "00003208" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Ala161=)" "" "" "" "0000716712" "00003208" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Tyr275=)" "" "" "" "0000729830" "00003208" "90" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Phe186Leu)" "" "" "" "0000729831" "00003208" "90" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Phe186Leu)" "" "" "" "0000729832" "00003208" "90" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Phe186Leu)" "" "" "" "0000729833" "00003208" "90" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Phe186Leu)" "" "" "" "0000729834" "00003208" "90" "536" "0" "541" "0" "c.536_541dup" "r.(?)" "p.(Arg179_Arg180dup)" "" "" "" "0000882702" "00003208" "30" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Arg6Gln)" "" "" "" "0000882703" "00003208" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Ser159=)" "" "" "" "0000882704" "00003208" "70" "588" "0" "588" "0" "c.588dup" "r.(?)" "p.(Arg197AlafsTer246)" "" "" "" "0000908950" "00003208" "79" "510" "0" "517" "0" "c.510_517del" "r.(?)" "p.(Glu174Alafs*266)" "" "deletion" "frameshift" "0000908951" "00003208" "79" "510" "0" "517" "0" "c.510_517del" "r.(?)" "p.(Glu174Alafs*266)" "" "deletion" "frameshift" "0000908952" "00003208" "70" "510" "0" "517" "0" "c.510_517del" "r.(?)" "p.(Glu174Alafs*266)" "" "deletion" "frameshift" "0000908953" "00003208" "79" "510" "0" "517" "0" "c.510_517del" "r.(?)" "p.(Glu174Alafs*266)" "" "deletion" "frameshift" "0000908954" "00003208" "77" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "" "substitution" "missense" "0000908955" "00003208" "70" "510" "0" "517" "0" "c.510_517del" "r.(?)" "p.(Glu174Alafs*266)" "" "deletion" "deletion" "0000908956" "00003208" "70" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "" "substitution" "missense" "0000910750" "00003208" "50" "426" "0" "426" "0" "c.426G>T" "r.(?)" "p.(Trp142Cys)" "" "" "" "0000910751" "00003208" "30" "930" "0" "930" "0" "c.930C>T" "r.(?)" "p.(Tyr310=)" "" "" "" "0000922921" "00003208" "30" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Ala161=)" "" "" "" "0000922922" "00003208" "50" "818" "0" "818" "0" "c.818A>G" "r.(?)" "p.(Asn273Ser)" "" "" "" "0000946939" "00003208" "30" "918" "0" "918" "0" "c.918G>T" "r.(?)" "p.(=)" "" "" "" "0000960396" "00003208" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(=)" "" "" "" "0001024015" "00003208" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Glu303Lys)" "" "" "" "0001024016" "00003208" "70" "988" "0" "988" "0" "c.988T>G" "r.(?)" "p.(*330Glyext*73)" "" "" "" "0001031088" "00003208" "30" "-3778" "0" "-3778" "0" "c.-3778C>T" "r.(?)" "p.(=)" "" "" "" "0001031089" "00003208" "50" "365" "0" "367" "0" "c.365_367dup" "r.(?)" "p.(Leu122dup)" "" "" "" "0001031090" "00003208" "50" "554" "0" "554" "0" "c.554T>G" "r.(?)" "p.(Phe185Cys)" "" "" "" "0001045314" "00003208" "90" "901" "0" "921" "0" "c.901_921dup" "r.(?)" "p.(Lys301_Arg307dup)" "" "" "" "0001045324" "00003208" "90" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "" "" "0001058481" "00003208" "90" "795" "0" "795" "0" "c.795A>C" "r.(?)" "p.(Glu265Asp)" "" "" "" "0001058482" "00003208" "90" "476" "0" "476" "0" "c.476C>A" "r.(?)" "p.(Ser159Tyr)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 82 "{{screeningid}}" "{{variantid}}" "0000081811" "0000132489" "0000081811" "0000132490" "0000319313" "0000701995" "0000319313" "0000702041" "0000319314" "0000701996" "0000319314" "0000702023" "0000319315" "0000701997" "0000319316" "0000701998" "0000319316" "0000702042" "0000319317" "0000701999" "0000319317" "0000702005" "0000319318" "0000702000" "0000319318" "0000702039" "0000319319" "0000702001" "0000319319" "0000702021" "0000319320" "0000702002" "0000319320" "0000702010" "0000319321" "0000702003" "0000319321" "0000702049" "0000319322" "0000702004" "0000319322" "0000702029" "0000319323" "0000702006" "0000319323" "0000702057" "0000319324" "0000702007" "0000319324" "0000702044" "0000319325" "0000702008" "0000319325" "0000702012" "0000319326" "0000702009" "0000319326" "0000702013" "0000319327" "0000702011" "0000319327" "0000702045" "0000319328" "0000702014" "0000319329" "0000702015" "0000319330" "0000702016" "0000319331" "0000702017" "0000319331" "0000702020" "0000319331" "0000702058" "0000319332" "0000702018" "0000319332" "0000702038" "0000319333" "0000702019" "0000319333" "0000702053" "0000319334" "0000702022" "0000319334" "0000702028" "0000319335" "0000702024" "0000319335" "0000702048" "0000319336" "0000702025" "0000319336" "0000702046" "0000319337" "0000702026" "0000319337" "0000702052" "0000319338" "0000702027" "0000319338" "0000702055" "0000319339" "0000702030" "0000319340" "0000702031" "0000319341" "0000702032" "0000319342" "0000702033" "0000319343" "0000702034" "0000319344" "0000702035" "0000319344" "0000702054" "0000319345" "0000702036" "0000319346" "0000702037" "0000319347" "0000702040" "0000319348" "0000702043" "0000319348" "0000702051" "0000319349" "0000702047" "0000319349" "0000702056" "0000319350" "0000702050" "0000332548" "0000729830" "0000332549" "0000729831" "0000332550" "0000729832" "0000332551" "0000729833" "0000332552" "0000729834" "0000429455" "0000908950" "0000429456" "0000908951" "0000429457" "0000908952" "0000429458" "0000908953" "0000429458" "0000908954" "0000429459" "0000908955" "0000429459" "0000908956" "0000467502" "0001045314" "0000467502" "0001045324" "0000470359" "0001058481" "0000470360" "0001058482"