### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = B4GALT7) # 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}}" "B4GALT7" "beta-1,4-galactosyltransferase 7" "5" "q35.3" "unknown" "NG_015977.1" "UD_132118361140" "" "https://www.LOVD.nl/B4GALT7" "" "1" "930" "11285" "604327" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/B4GALT7_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 14:02:41" "00006" "2025-06-07 14:19:04" ## 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}}" "00003233" "B4GALT7" "xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)" "001" "NM_007255.2" "" "NP_009186.1" "" "" "" "-93" "1636" "984" "177027119" "177037348" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "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" "00339" "LRS" "Larsen syndrome (LRS)" "AD" "150250" "" "" "" "00006" "2014-03-03 23:30:27" "00006" "2021-12-10 21:51:32" "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" "05754" "EDSSPD" "Ehlers-Danlos, spondylodysplastic syndrome (EDSSPD)" "" "" "" "" "" "00006" "2020-05-19 18:51:25" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "B4GALT7" "00139" "B4GALT7" "00169" "B4GALT7" "00339" "B4GALT7" "00911" "B4GALT7" "05754" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00011668" "" "" "" "22" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "large multi-generation family, 22 afecteds, unaffected heterozygote carriers" "F" "" "Reunion" "" "0" "" "" "white" "Pat22" "00050391" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050671" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00301633" "" "" "" "1" "" "00006" "{PMID:Okajima 1999:10506123}, {PMID:Almeida 1999:10473568}, {PMID:Kresse 1987:3631078}, {PMID:Quentin 1990:2106134}, {PMID:Furukawa 2002:12417421}, {PMID:Gotte 2005:15859521}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Denmark" "" "0" "" "" "" "patient" "00301634" "" "" "" "2" "" "00006" "{PMID:Faiyaz-Ul-Haque 2004:15211654} {PMID:Walker 2004: 15589118} {PMID:Seidler 2006:16583246}" "4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "" "yes" "Qatar" "" "0" "" "" "Arab" "family" "00301635" "" "" "" "1" "" "00006" "{PMID:Guo 2013:23956117}, {PMID:Guo 2014:24970356}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "patient" "00301636" "" "" "" "1" "" "00006" "{PMID:Caraffi 2019:31614862}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Italy" "" "0" "" "" "" "Pat1" "00301637" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat1" "00301638" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat2" "00301639" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat3" "00301640" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat4" "00301641" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat5" "00301642" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat6" "00301643" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat7" "00301644" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat8" "00301645" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat9" "00301646" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat10" "00301647" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat11" "00301648" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat12" "00301649" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat13" "00301650" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat14" "00301651" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat15" "00301652" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat16" "00301653" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat17" "00301654" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat18" "00301655" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "F" "" "Reunion" "" "0" "" "" "" "Pat19" "00301656" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat20" "00301657" "" "" "00011668" "1" "" "00656" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "M" "" "Reunion" "" "0" "" "" "" "Pat21" "00301674" "" "" "" "1" "" "00006" "{PMID:Salter 2016:26940150}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00301675" "" "" "" "1" "" "00006" "{PMID:Salter 2016:26940150}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00301676" "" "" "" "1" "" "00006" "{PMID:Arunrut 2016:27320698}" "" "F" "" "United States" "" "0" "" "" "" "patient" "00301677" "" "" "" "1" "" "00006" "{PMID:Mihalic Mosher 2019:31278392}" "2-generation family, 3 affected pregnancies, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "patient" "00301678" "" "" "" "1" "" "00006" "{PMID:Ritelli 2017:28882145}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Morocco" "" "0" "" "" "" "patient" "00319462" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2020:32429945}" "The variants were detected by medical exome sequencing of 95 patients with clinical manifestations of intellectual disability.The technique used was the custom NGS Gene panel. The technique used was whole genome sequencing." "" "" "" "" "0" "" "" "" "" "00319463" "" "" "" "1" "" "00085" "{PMID:Sandler-Wilson et al., 2019:30914273}" "The patient had a female sibling who also carried both variants and was diagnosed with spEDS. The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Partly French" "" "00465855" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, family history" "" "yes" "France" "" "0" "" "" "" "Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00011668" "00169" "00050391" "00198" "00050671" "00198" "00301633" "00169" "00301634" "00169" "00301635" "00169" "00301636" "00169" "00301637" "00169" "00301638" "00169" "00301639" "00169" "00301640" "00169" "00301641" "00169" "00301642" "00169" "00301643" "00169" "00301644" "00169" "00301645" "00169" "00301646" "00169" "00301647" "00169" "00301648" "00169" "00301649" "00169" "00301650" "00169" "00301651" "00169" "00301652" "00169" "00301653" "00169" "00301654" "00169" "00301655" "00169" "00301656" "00169" "00301657" "00169" "00301674" "00169" "00301675" "00169" "00301676" "00169" "00301677" "00169" "00301678" "00169" "00319462" "00198" "00319463" "00169" "00319463" "00911" "00465855" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00169, 00198, 00339, 00911, 05754 ## Count = 35 "{{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}}" "0000037003" "00198" "00050391" "00006" "Isolated (sporadic)" "" "severe short stature, disproportionate short-limb short stature, joint hypermobility, lumbar hyperlordosis, relative macrocephaly, high-grade hypermetropia, short nose, narrow mouth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037283" "00198" "00050671" "00006" "Isolated (sporadic)" "" "radioulnar synostosis, osteopenia, ventriculomegaly, cleft palate, bilateral single transverse palmar creases, abnormality of male external genitalia, gastroesophageal reflux, optic nerve hypoplasia, micrognathia, generalized hypotonia, vertebral compression fractures, lumbar hemivertebrae, hypermetropia, 2-3 toe syndactyly, hemimegalencephaly, mild short stature" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228733" "00169" "00301633" "00006" "Familial, autosomal recessive" "" "see papers; ..., short stature, limb anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Ehlers-Danlos syndrome" "" "0000228734" "00169" "00301634" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, limb anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Ehlers-Danlos syndrome" "" "0000228735" "00169" "00301635" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, limb anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Ehlers-Danlos syndrome" "" "0000228736" "00169" "00301636" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, hypotonia, joint hypermobility, skeletal features, prominent forehead, thin soft tissue and prominent eyes;" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Ehlers-Danlos syndrome" "" "0000228737" "00169" "00301637" "00656" "Familial, autosomal recessive" "32y" "birth length 43 cm, adult height 113 cm, BMI 38; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations bilateral hips and elbows, right shoulder, right wrist; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228738" "00169" "00301638" "00656" "Familial, autosomal recessive" "22y" "birth length 42 cm, adult height 130 cm, BMI 32.5; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, left shoulder; no brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228739" "00169" "00301639" "00656" "Familial, autosomal recessive" "15y" "birth length 46 cm, 14y-height 132 cm, BMI 25.2; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, right wrist, shoulders; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; right Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228740" "00169" "00301640" "00656" "Familial, autosomal recessive" "29y" "birth length 42.5 cm, adult height 122 cm, BMI 45.9; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, left patella; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228741" "00169" "00301641" "00656" "Familial, autosomal recessive" "13y" "birth length 43 cm, adult height 127 cm, BMI 16.7; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left shoulder; no advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228742" "00169" "00301642" "00656" "Familial, autosomal recessive" "36y" "birth length 39 cm, adult height 127 cm, BMI 24.8; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations right knee, shoulders, fingers; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; bilateral Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228743" "00169" "00301643" "00656" "Familial, autosomal recessive" "11y" "birth length 41 cm, 10y-height 111 cm, BMI 14.6; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations right knee; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228744" "00169" "00301644" "00656" "Familial, autosomal recessive" "46y" "birth length ? cm, adult height 112 cm, BMI 32.8; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; cleft palate; scoliosis/kyphosis; joint dislocations right hip, right knee; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis; bilateral Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228745" "00169" "00301645" "00656" "Familial, autosomal recessive" "15y" "birth length 39 cm, adult height 138 cm, BMI 39.3; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; no scoliosis/no kyphosis; joint dislocations bilateral elbows and knees; no advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228746" "00169" "00301646" "00656" "Familial, autosomal recessive" "21y" "birth length 38 cm, adult height 121 cm, BMI 17; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, patella, bilateral wrist, right shoulder; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228747" "00169" "00301647" "00656" "Familial, autosomal recessive" "19y" "birth length 41 cm, adult height 131 cm, BMI 17.1; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; bilateral Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228748" "00169" "00301648" "00656" "Familial, autosomal recessive" "35y" "birth length 42 cm, BMI 17.5; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left hip, knees; no advanced bone age; Swedish key; no radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228749" "00169" "00301649" "00656" "Familial, autosomal recessive" "25y" "birth length 40 cm, adult height 128 cm, BMI 20; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; Megalocornea; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left knee, fingers; advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228750" "00169" "00301650" "00656" "Familial, autosomal recessive" "" "deceased; birth length 43 cm, adult height 132 cm, BMI 20.8; facial dysmorphism; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations shoulders, hips, knees; radioulnar synostosis; bilateral Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228751" "00169" "00301651" "00656" "Familial, autosomal recessive" "24y" "birth length 39 cm, adult height 117 cm, BMI 41.1; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations elbows, right hip, patella, fingers; advanced bone age; no brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; no radioulnar synostosis; bilateral Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228752" "00169" "00301652" "00656" "Familial, autosomal recessive" "34y" "birth length 38.5 cm, adult height 120 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; scoliosis/kyphosis; joint dislocations knees, hips; no Swedish key; no radioulnar synostosis; bilateral Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228753" "00169" "00301653" "00656" "Familial, autosomal recessive" "22y" "birth length 41 cm, adult height 127 cm; facial dysmorphism; no cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations knees; no advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228754" "00169" "00301654" "00656" "Familial, autosomal recessive" "29y" "birth length 45 cm, adult height 120 cm, BMI 19.8; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; scoliosis/kyphosis; joint dislocations knees, elbows; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228755" "00169" "00301655" "00656" "Familial, autosomal recessive" "25y" "BMI 31.25; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations hips, elbows, knees; advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228756" "00169" "00301656" "00656" "Familial, autosomal recessive" "29y" "birth length 42 cm, adult height 133 cm; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left shoulder, knees, elbows; radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228757" "00169" "00301657" "00656" "Familial, autosomal recessive" "21y" "birth length 44 cm, adult height 131 cm, BMI 26.3; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations knees, elbows, fingers; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228758" "00169" "00011668" "00656" "Familial, autosomal recessive" "04y" "birth length 38 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "Larsen of Reunion Island syndrome" "" "0000228775" "00169" "00301674" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ..., short stature, joint hypermobility, radioulnar synostosis, hypermetropia, severe osteopenia" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "EDS" "" "0000228776" "00169" "00301675" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., short stature, joint hypermobility, radioulnar synostosis, severe hypermetropia" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "EDS" "" "0000228777" "00169" "00301676" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., global developmental delay, pre‐ and post‐natal growth restriction, striking joint laxity with soft skin, scoliosis; triangular face, prominent forehead, proptosis, small nose, small jaw; corneal clouding, colobomas iris and optic nerve, posterior subcapsular cataracts" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "EDS" "" "0000228778" "00169" "00301677" "00006" "Familial, autosomal recessive" "" "see paper; ..., 3 affected pregnancies showing short limbs, cystic hygroma, perinatal death; 2 spontaneously aborted; 1 survived 1 day after term delivery short limbs, bell-shaped thorax, 11 ribs, absent thumbs, cleft palate" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "EDS" "" "0000228779" "00169" "00301678" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., short stature, skin hyperextensibility, facial dysmorphisms, no radioulnar synostosis, muscle hypotonia, joint laxity, no intellectual disability, neurosensorial hearing loss, limb edema of lymphatic origin" "" "" "" "" "" "" "" "" "" "" "" "" "EDSSPD1" "EDS" "" "0000241902" "00198" "00319462" "00085" "-" "" "Intellectual disability," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351304" "00198" "00465855" "00006" "Familial, autosomal recessive" "" "see paper; ..., intrauterine growth retadation; short stature (-5 SD); advanced bone age; joint dislocations hips, radial heads; hands bifid right thumb, broad left thumb, membranous syndactylies; cervical instability with C2–C3 fusion, severe hyperlaxity, knee osteoarthritis, scoliosis; glaucoma, hypercholesterolemia, recurrent venous thrombosis and pulmonary embolism (no thrombophilia); prominent eyes with proptosis, epicanthal folds, micrognathia; no intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "Larsen syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 36 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000011584" "00011668" "1" "00656" "00656" "2014-02-17 07:20:02" "00006" "2014-03-03 13:36:49" "SEQ;SEQ-NG-S" "DNA" "blood" "" "0000050336" "00050391" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050616" "00050671" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000302758" "00301633" "1" "00006" "00006" "2020-05-19 19:31:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000302759" "00301634" "1" "00006" "00006" "2020-05-19 19:39:52" "" "" "SEQ" "DNA" "" "" "0000302760" "00301635" "1" "00006" "00006" "2020-05-19 19:45:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000302761" "00301636" "1" "00006" "00006" "2020-05-19 19:56:11" "" "" "SEQ" "DNA" "" "" "0000302762" "00301637" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302763" "00301638" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302764" "00301639" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302765" "00301640" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302766" "00301641" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302767" "00301642" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302768" "00301643" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302769" "00301644" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302770" "00301645" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302771" "00301646" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302772" "00301647" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302773" "00301648" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302774" "00301649" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302775" "00301650" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302776" "00301651" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302777" "00301652" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302778" "00301653" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302779" "00301654" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302780" "00301655" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302781" "00301656" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302782" "00301657" "1" "00656" "00006" "2020-05-20 08:16:52" "" "" "SEQ" "DNA" "" "" "0000302799" "00301674" "1" "00006" "00006" "2020-05-20 09:21:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000302800" "00301675" "1" "00006" "00006" "2020-05-20 09:21:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000302801" "00301676" "1" "00006" "00006" "2020-05-20 09:21:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000302802" "00301677" "1" "00006" "00006" "2020-05-20 09:21:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000302803" "00301678" "1" "00006" "00006" "2020-05-20 09:21:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000320643" "00319462" "1" "00085" "00085" "2020-06-29 18:01:30" "" "" "SEQ-NG;SEQ-NG" "DNA" "" "" "0000320644" "00319463" "1" "00085" "00085" "2020-05-27 15:17:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467506" "00465855" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000011584" "B4GALT7" "0000050336" "B4GALT7" "0000050616" "B4GALT7" "0000302758" "B4GALT7" "0000302759" "B4GALT7" "0000302760" "B4GALT7" "0000302761" "B4GALT7" "0000302762" "B4GALT7" "0000302763" "B4GALT7" "0000302764" "B4GALT7" "0000302765" "B4GALT7" "0000302766" "B4GALT7" "0000302767" "B4GALT7" "0000302768" "B4GALT7" "0000302769" "B4GALT7" "0000302770" "B4GALT7" "0000302771" "B4GALT7" "0000302772" "B4GALT7" "0000302773" "B4GALT7" "0000302774" "B4GALT7" "0000302775" "B4GALT7" "0000302776" "B4GALT7" "0000302777" "B4GALT7" "0000302778" "B4GALT7" "0000302779" "B4GALT7" "0000302780" "B4GALT7" "0000302781" "B4GALT7" "0000302782" "B4GALT7" "0000302799" "B4GALT7" "0000302800" "B4GALT7" "0000302801" "B4GALT7" "0000302802" "B4GALT7" "0000302803" "B4GALT7" "0000320643" "B4GALT7" "0000320644" "B4GALT7" ## 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 = 94 "{{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}}" "0000031236" "3" "95" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic" "" "0000079316" "11" "90" "5" "177034310" "177034310" "subst" "3.39199E-5" "00006" "B4GALT7_000008" "g.177034310C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.177607309C>T" "" "pathogenic" "" "0000079596" "11" "90" "5" "177031406" "177031406" "dup" "0.00021077" "00006" "B4GALT7_000036" "g.177031406dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.177604405dup" "" "pathogenic" "" "0000079648" "21" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00006" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.177608994C>T" "" "pathogenic" "" "0000079695" "21" "90" "5" "177035541" "177035541" "subst" "3.25447E-5" "00006" "B4GALT7_000007" "g.177035541G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.177608540G>A" "" "pathogenic (recessive)" "" "0000259221" "0" "10" "5" "177031348" "177031348" "subst" "0.662125" "02325" "B4GALT7_000039" "g.177031348T>C" "" "" "" "B4GALT7(NM_007255.3):c.219T>C (p.R73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177604347T>C" "" "benign" "" "0000259222" "0" "10" "5" "177032050" "177032050" "subst" "0" "02325" "B4GALT7_000032" "g.177032050C>G" "" "" "" "B4GALT7(NM_007255.3):c.413+508C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177605049C>G" "" "benign" "" "0000260319" "0" "10" "5" "177031348" "177031348" "subst" "0.662125" "02329" "B4GALT7_000039" "g.177031348T>C" "" "" "" "B4GALT7(NM_007255.3):c.219T>C (p.R73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177604347T>C" "" "benign" "" "0000260320" "0" "30" "5" "177031406" "177031406" "subst" "0.00139522" "02329" "B4GALT7_000030" "g.177031406C>T" "" "" "" "B4GALT7(NM_007255.2):c.277C>T (p.H93Y, p.(His93Tyr)), B4GALT7(NM_007255.3):c.277C>T (p.H93Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177604405C>T" "" "likely benign" "" "0000260321" "0" "30" "5" "177031540" "177031540" "subst" "0.00148214" "02329" "B4GALT7_000011" "g.177031540C>T" "" "" "" "B4GALT7(NM_007255.2):c.411C>T (p.F137=, p.(Phe137=)), B4GALT7(NM_007255.3):c.411C>T (p.F137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177604539C>T" "" "likely benign" "" "0000260322" "0" "10" "5" "177034283" "177034283" "subst" "0.00265868" "02329" "B4GALT7_000033" "g.177034283G>A" "" "" "" "B4GALT7(NM_007255.3):c.414-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177607282G>A" "" "benign" "" "0000260323" "0" "30" "5" "177031169" "177031169" "subst" "8.30454E-6" "02329" "B4GALT7_000038" "g.177031169G>A" "" "" "" "B4GALT7(NM_007255.3):c.51-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177604168G>A" "" "likely benign" "" "0000260324" "0" "30" "5" "177035643" "177035643" "subst" "0.000749358" "02329" "B4GALT7_000018" "g.177035643G>A" "" "" "" "B4GALT7(NM_007255.3):c.723+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177608642G>A" "" "likely benign" "" "0000260325" "0" "10" "5" "177036035" "177036035" "subst" "0.00863474" "02329" "B4GALT7_000019" "g.177036035T>C" "" "" "" "B4GALT7(NM_007255.3):c.828+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177609034T>C" "" "benign" "" "0000260326" "0" "30" "5" "177036621" "177036621" "subst" "6.09588E-5" "02329" "B4GALT7_000020" "g.177036621C>T" "" "" "" "B4GALT7(NM_007255.2):c.909C>T (p.G303=), B4GALT7(NM_007255.3):c.909C>T (p.G303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177609620C>T" "" "likely benign" "" "0000261366" "0" "70" "5" "177034533" "177034533" "subst" "0" "02326" "B4GALT7_000014" "g.177034533G>A" "" "" "" "B4GALT7(NM_007255.3):c.639+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177607532G>A" "" "likely pathogenic" "" "0000261367" "0" "70" "5" "177035581" "177035581" "subst" "0" "02326" "B4GALT7_000015" "g.177035581G>T" "" "" "" "B4GALT7(NM_007255.3):c.681G>T (p.E227D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177608580G>T" "" "likely pathogenic" "" "0000263493" "0" "30" "5" "177031540" "177031540" "subst" "0.00148214" "01943" "B4GALT7_000011" "g.177031540C>T" "" "" "" "B4GALT7(NM_007255.2):c.411C>T (p.F137=, p.(Phe137=)), B4GALT7(NM_007255.3):c.411C>T (p.F137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177604539C>T" "" "likely benign" "" "0000263494" "0" "30" "5" "177035598" "177035598" "subst" "1.62746E-5" "01943" "B4GALT7_000016" "g.177035598G>A" "" "" "" "B4GALT7(NM_007255.2):c.698G>A (p.R233Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177608597G>A" "" "likely benign" "" "0000263495" "0" "50" "5" "177035600" "177035600" "subst" "9.76404E-5" "01943" "B4GALT7_000017" "g.177035600C>T" "" "" "" "B4GALT7(NM_007255.2):c.700C>T (p.R234C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177608599C>T" "" "VUS" "" "0000330774" "0" "50" "5" "177027273" "177027275" "dup" "0" "01804" "B4GALT7_000037" "g.177027273_177027275dup" "" "" "" "B4GALT7(NM_007255.2):c.50+4_50+5insGCG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177600272_177600274dup" "" "VUS" "" "0000525325" "0" "30" "5" "177031540" "177031540" "subst" "0.00148214" "01804" "B4GALT7_000011" "g.177031540C>T" "" "" "" "B4GALT7(NM_007255.2):c.411C>T (p.F137=, p.(Phe137=)), B4GALT7(NM_007255.3):c.411C>T (p.F137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177604539C>T" "" "likely benign" "" "0000525326" "0" "50" "5" "177034493" "177034493" "subst" "4.07368E-6" "01804" "B4GALT7_000022" "g.177034493G>C" "" "" "" "B4GALT7(NM_007255.2):c.604G>C (p.(Gly202Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177607492G>C" "" "VUS" "" "0000525327" "0" "30" "5" "177035642" "177035642" "subst" "0.000210598" "02329" "B4GALT7_000023" "g.177035642C>T" "" "" "" "B4GALT7(NM_007255.3):c.723+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177608641C>T" "" "likely benign" "" "0000525328" "0" "10" "5" "177035964" "177035964" "subst" "0.59297" "02325" "B4GALT7_000024" "g.177035964T>C" "" "" "" "B4GALT7(NM_007255.3):c.777T>C (p.H259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177608963T>C" "" "benign" "" "0000525329" "0" "10" "5" "177035964" "177035964" "subst" "0.59297" "02329" "B4GALT7_000024" "g.177035964T>C" "" "" "" "B4GALT7(NM_007255.3):c.777T>C (p.H259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177608963T>C" "" "benign" "" "0000525330" "0" "50" "5" "177035980" "177035980" "subst" "1.22391E-5" "01804" "B4GALT7_000025" "g.177035980A>G" "" "" "" "B4GALT7(NM_007255.2):c.793A>G (p.(Lys265Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177608979A>G" "" "VUS" "" "0000609648" "0" "30" "5" "177036579" "177036579" "subst" "0.000138219" "01943" "B4GALT7_000027" "g.177036579T>C" "" "" "" "B4GALT7(NM_007255.2):c.867T>C (p.T289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177609578T>C" "" "likely benign" "" "0000666109" "21" "90" "5" "177034446" "177034446" "subst" "1.62529E-5" "00006" "B4GALT7_000001" "g.177034446C>A" "" "{PMID:Okajima 1999:10506123}, {PMID:Almeida 1999:10473568}" "" "186G>T" "" "Germline" "" "" "0" "" "" "g.177607445C>A" "" "pathogenic (recessive)" "" "0000666110" "11" "90" "5" "177034506" "177034506" "subst" "0" "00006" "B4GALT7_000002" "g.177034506T>C" "" "{PMID:Okajima 1999:10506123}, {PMID:Almeida 1999:10473568}" "" "206A>C" "" "Germline" "" "" "0" "" "" "g.177607505T>C" "" "pathogenic (recessive)" "" "0000666111" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00006" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Faiyaz-Ul-Haque 2004:15211654}" "" "" "" "Germline" "yes" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666112" "21" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00006" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Guo 2013:23956117} {PMID:Guo 2014:24970356}" "" "" "" "Germline" "" "" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666113" "11" "90" "5" "177031251" "177031251" "subst" "8.21531E-6" "00006" "B4GALT7_000004" "g.177031251T>C" "" "{PMID:Guo 2013:23956117}" "" "" "" "Germline" "" "" "0" "" "" "g.177604250T>C" "" "pathogenic (recessive)" "" "0000666114" "21" "99" "5" "177031406" "177031406" "dup" "0.00021077" "00006" "B4GALT7_000005" "g.177031406dup" "" "{PMID:Caraffi 2019:31614862}" "" "277dupC" "" "Germline" "" "" "0" "" "" "g.177604405dup" "" "pathogenic (recessive)" "" "0000666115" "11" "97" "5" "177034517" "177034517" "subst" "0" "00006" "B4GALT7_000006" "g.177034517C>T" "" "{PMID:Caraffi 2019:31614862}" "" "" "" "Germline" "" "" "0" "" "" "g.177607516C>T" "" "pathogenic (recessive)" "" "0000666116" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666117" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666118" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666119" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666120" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666121" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666122" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666123" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666124" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666125" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666126" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666127" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666128" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666129" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666130" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666131" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666132" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666133" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666134" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666135" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666136" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00656" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Cartault 2015:24755949}, {DOI:Cartault 2015:10.1038/ejhg.2014.60}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666153" "11" "90" "5" "177031406" "177031406" "dup" "0.00021077" "00006" "B4GALT7_000005" "g.177031406dup" "" "{PMID:Salter 2016:26940150}" "" "277dupC" "" "Germline" "" "" "0" "" "" "g.177604405dup" "" "pathogenic (recessive)" "" "0000666154" "21" "90" "5" "177035541" "177035541" "subst" "3.25447E-5" "00006" "B4GALT7_000007" "g.177035541G>A" "" "{PMID:Salter 2016:26940150}" "" "" "" "Germline" "" "" "0" "" "" "g.177608540G>A" "" "pathogenic (recessive)" "" "0000666155" "21" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00006" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Salter 2016:26940150}" "" "" "" "Germline" "" "" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666156" "11" "97" "5" "177034310" "177034310" "subst" "3.39199E-5" "00006" "B4GALT7_000008" "g.177034310C>T" "" "{PMID:Salter 2016:26940150}" "" "" "" "Germline" "" "" "0" "" "" "g.177607309C>T" "" "pathogenic (recessive)" "" "0000666157" "3" "90" "5" "177036682" "177036682" "subst" "4.17913E-6" "00006" "B4GALT7_000009" "g.177036682T>A" "" "{PMID:Arunrut 2016:27320698}" "" "" "" "Germline" "" "" "0" "" "" "g.177609681T>A" "" "pathogenic (recessive)" "" "0000666158" "21" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00006" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Mihalic Mosher 2019:31278392}" "" "" "" "Germline" "" "rs28937869" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" "0000666159" "11" "97" "5" "177031527" "177031527" "subst" "4.15031E-6" "00006" "B4GALT7_000028" "g.177031527A>G" "" "{PMID:Mihalic Mosher 2019:31278392}" "" "" "" "Germline" "" "rs1370937766" "0" "" "" "g.177604526A>G" "" "pathogenic (recessive)" "" "0000666160" "3" "90" "5" "177036541" "177036541" "subst" "8.15661E-6" "00006" "B4GALT7_000029" "g.177036541G>T" "" "{PMID:Ritelli 2017:28882145}" "" "" "" "Germline" "" "" "0" "" "" "g.177609540G>T" "" "pathogenic (recessive)" "" "0000677484" "0" "30" "5" "177036621" "177036621" "subst" "6.09588E-5" "01943" "B4GALT7_000020" "g.177036621C>T" "" "" "" "B4GALT7(NM_007255.2):c.909C>T (p.G303=), B4GALT7(NM_007255.3):c.909C>T (p.G303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689490" "0" "30" "5" "177031406" "177031406" "subst" "0.00139522" "01804" "B4GALT7_000030" "g.177031406C>T" "" "" "" "B4GALT7(NM_007255.2):c.277C>T (p.H93Y, p.(His93Tyr)), B4GALT7(NM_007255.3):c.277C>T (p.H93Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000703364" "11" "71" "5" "177031448" "177031448" "subst" "0" "00085" "B4GALT7_000012" "g.177031448G>C" "" "{PMID:Wang et al., 2020:32429945}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000703365" "21" "97" "5" "177034310" "177034310" "subst" "3.39199E-5" "00085" "B4GALT7_000010" "g.177034310C>T" "" "{PMID:Sandler-Wilson et al., 2019:30914273}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703366" "21" "11" "5" "177034503" "177034503" "subst" "1.63213E-5" "00085" "B4GALT7_000013" "g.177034503T>C" "" "{PMID:Wang et al., 2020:32429945}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703367" "11" "97" "5" "177035995" "177035995" "subst" "5.32307E-5" "00085" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Sandler-Wilson et al., 2019:30914273}" "" "" "" "Unknown" "" "rs28937869" "0" "" "" "" "" "likely pathogenic" "" "0000720364" "0" "30" "5" "177031548" "177031548" "subst" "2.92515E-5" "01804" "B4GALT7_000040" "g.177031548G>A" "" "" "" "B4GALT7(NM_007255.2):c.413+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720365" "0" "30" "5" "177034523" "177034523" "subst" "0.000197184" "01804" "B4GALT7_000041" "g.177034523C>T" "" "" "" "B4GALT7(NM_007255.2):c.634C>T (p.(Arg212Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720366" "0" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "01804" "B4GALT7_000003" "g.177035995C>T" "" "" "" "B4GALT7(NM_007255.2):c.808C>T (p.(Arg270Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850879" "0" "50" "5" "177031406" "177031406" "dup" "0.00021077" "01804" "B4GALT7_000005" "g.177031406dup" "" "" "" "B4GALT7(NM_007255.2):c.277dup (p.(His93Profs*73)), B4GALT7(NM_007255.3):c.277dupC (p.H93Pfs*73)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859887" "0" "50" "5" "177031406" "177031406" "subst" "0.00139522" "01943" "B4GALT7_000030" "g.177031406C>T" "" "" "" "B4GALT7(NM_007255.2):c.277C>T (p.H93Y, p.(His93Tyr)), B4GALT7(NM_007255.3):c.277C>T (p.H93Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859888" "0" "10" "5" "177031554" "177031554" "subst" "0.00271989" "02329" "B4GALT7_000042" "g.177031554C>G" "" "" "" "B4GALT7(NM_007255.3):c.413+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859889" "0" "50" "5" "177035624" "177035624" "subst" "8.1704E-6" "01804" "B4GALT7_000043" "g.177035624G>A" "" "" "" "B4GALT7(NM_007255.2):c.723+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859890" "0" "30" "5" "177036001" "177036001" "subst" "0.000574684" "01943" "B4GALT7_000044" "g.177036001G>A" "" "" "" "B4GALT7(NM_007255.2):c.814G>A (p.A272T, p.(Ala272Thr)), B4GALT7(NM_007255.3):c.814G>A (p.A272T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886775" "0" "30" "5" "177036001" "177036001" "subst" "0.000574684" "01804" "B4GALT7_000044" "g.177036001G>A" "" "" "" "B4GALT7(NM_007255.2):c.814G>A (p.A272T, p.(Ala272Thr)), B4GALT7(NM_007255.3):c.814G>A (p.A272T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912296" "0" "90" "5" "177031406" "177031406" "dup" "0.00021077" "02326" "B4GALT7_000005" "g.177031406dup" "" "" "" "B4GALT7(NM_007255.2):c.277dup (p.(His93Profs*73)), B4GALT7(NM_007255.3):c.277dupC (p.H93Pfs*73)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912297" "0" "10" "5" "177031426" "177031426" "subst" "0.00276694" "02329" "B4GALT7_000045" "g.177031426G>T" "" "" "" "B4GALT7(NM_007255.3):c.297G>T (p.V99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912298" "0" "30" "5" "177036001" "177036001" "subst" "0.000574684" "02329" "B4GALT7_000044" "g.177036001G>A" "" "" "" "B4GALT7(NM_007255.2):c.814G>A (p.A272T, p.(Ala272Thr)), B4GALT7(NM_007255.3):c.814G>A (p.A272T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924316" "0" "30" "5" "177035447" "177035447" "subst" "0" "02329" "B4GALT7_000046" "g.177035447G>A" "" "" "" "B4GALT7(NM_007255.3):c.640-93G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924317" "0" "30" "5" "177035498" "177035498" "subst" "0" "02329" "B4GALT7_000047" "g.177035498C>A" "" "" "" "B4GALT7(NM_007255.3):c.640-42C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924318" "0" "50" "5" "177035918" "177035918" "subst" "0.000118012" "01804" "B4GALT7_000048" "g.177035918G>A" "" "" "" "B4GALT7(NM_007255.2):c.731G>A (p.(Arg244His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929061" "0" "50" "5" "177031385" "177031385" "subst" "1.24102E-5" "01804" "B4GALT7_000049" "g.177031385G>C" "" "" "" "B4GALT7(NM_007255.2):c.256G>C (p.(Glu86Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963565" "0" "50" "5" "177022313" "177022313" "subst" "0" "01804" "B4GALT7_000050" "g.177022313C>T" "" "" "" "TMED9(NM_017510.4):c.604C>T (p.(Arg202Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963566" "0" "30" "5" "177034406" "177034406" "subst" "0.000125917" "02329" "B4GALT7_000051" "g.177034406C>T" "" "" "" "B4GALT7(NM_007255.3):c.517C>T (p.L173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976742" "0" "30" "5" "177031444" "177031444" "subst" "9.07433E-5" "02329" "B4GALT7_000052" "g.177031444C>T" "" "" "" "B4GALT7(NM_007255.3):c.315C>T (p.F105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976743" "0" "90" "5" "177034506" "177034506" "subst" "0" "01804" "B4GALT7_000002" "g.177034506T>C" "" "" "" "B4GALT7(NM_007255.3):c.617T>C (p.(Leu206Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994950" "0" "50" "5" "177031407" "177031407" "subst" "0.000136218" "01804" "B4GALT7_000053" "g.177031407A>G" "" "" "" "B4GALT7(NM_007255.2):c.278A>G (p.(His93Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035128" "0" "50" "5" "177034310" "177034310" "subst" "3.39199E-5" "01804" "B4GALT7_000008" "g.177034310C>T" "" "" "" "B4GALT7(NM_007255.3):c.421C>T (p.(Arg141Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035129" "0" "50" "5" "177034528" "177034528" "subst" "0" "01804" "B4GALT7_000054" "g.177034528G>A" "" "" "" "B4GALT7(NM_007255.3):c.639G>A (p.(Leu213=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045318" "3" "90" "5" "177035995" "177035995" "subst" "5.32307E-5" "00006" "B4GALT7_000003" "g.177035995C>T" "" "{PMID:Ranza 2017:28229453}" "" "" "" "Germline" "" "" "0" "" "" "g.177608994C>T" "" "pathogenic (recessive)" "" ## 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 B4GALT7 ## Count = 94 "{{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}}" "0000031236" "00003233" "95" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000079316" "00003233" "00" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Trp)" "" "" "" "0000079596" "00003233" "00" "277" "0" "277" "0" "c.277dup" "r.(?)" "p.(His93Profs*73)" "" "" "" "0000079648" "00003233" "00" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "" "" "" "0000079695" "00003233" "90" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Cys214Tyr)" "" "" "" "0000259221" "00003233" "10" "219" "0" "219" "0" "c.219T>C" "r.(?)" "p.(Arg73=)" "" "" "" "0000259222" "00003233" "10" "413" "508" "413" "508" "c.413+508C>G" "r.(=)" "p.(=)" "" "" "" "0000260319" "00003233" "10" "219" "0" "219" "0" "c.219T>C" "r.(?)" "p.(Arg73=)" "" "" "" "0000260320" "00003233" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(His93Tyr)" "" "" "" "0000260321" "00003233" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Phe137=)" "" "" "" "0000260322" "00003233" "10" "414" "-20" "414" "-20" "c.414-20G>A" "r.(=)" "p.(=)" "" "" "" "0000260323" "00003233" "30" "51" "-11" "51" "-11" "c.51-11G>A" "r.(=)" "p.(=)" "" "" "" "0000260324" "00003233" "30" "723" "20" "723" "20" "c.723+20G>A" "r.(=)" "p.(=)" "" "" "" "0000260325" "00003233" "10" "828" "20" "828" "20" "c.828+20T>C" "r.(=)" "p.(=)" "" "" "" "0000260326" "00003233" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Gly303=)" "" "" "" "0000261366" "00003233" "70" "639" "5" "639" "5" "c.639+5G>A" "r.spl?" "p.?" "" "" "" "0000261367" "00003233" "70" "681" "0" "681" "0" "c.681G>T" "r.(?)" "p.(Glu227Asp)" "" "" "" "0000263493" "00003233" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Phe137=)" "" "" "" "0000263494" "00003233" "30" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233Gln)" "" "" "" "0000263495" "00003233" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Cys)" "" "" "" "0000330774" "00003233" "50" "50" "12" "50" "14" "c.50+12_50+14dup" "r.(=)" "p.(=)" "" "" "" "0000525325" "00003233" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Phe137=)" "" "" "" "0000525326" "00003233" "50" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Gly202Arg)" "" "" "" "0000525327" "00003233" "30" "723" "19" "723" "19" "c.723+19C>T" "r.(=)" "p.(=)" "" "" "" "0000525328" "00003233" "10" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(His259=)" "" "" "" "0000525329" "00003233" "10" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(His259=)" "" "" "" "0000525330" "00003233" "50" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Lys265Glu)" "" "" "" "0000609648" "00003233" "30" "867" "0" "867" "0" "c.867T>C" "r.(?)" "p.(Thr289=)" "" "" "" "0000666109" "00003233" "90" "557" "0" "557" "0" "c.557C>A" "r.557c>a" "p.Ala186Asp" "03" "substitution" "missense" "0000666110" "00003233" "90" "617" "0" "617" "0" "c.617T>C" "r.617c>u" "p.Leu206Pro" "03" "substitution" "missense" "0000666111" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "05" "substitution" "missense" "0000666112" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "05" "substitution" "missense" "0000666113" "00003233" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Leu41Pro)" "02" "substitution" "missense" "0000666114" "00003233" "99" "277" "0" "277" "0" "c.277dup" "r.(?)" "p.(His93Profs*73)" "02" "duplication" "frameshift" "0000666115" "00003233" "97" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(His210Tyr)" "03" "substitution" "missense" "0000666116" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666117" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666118" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666119" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666120" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666121" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666122" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666123" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666124" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666125" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666126" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666127" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666128" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666129" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666130" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666131" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666132" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666133" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666134" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666135" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666136" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "" "" "0000666153" "00003233" "90" "277" "0" "277" "0" "c.277dup" "r.(?)" "p.(His93Profs*73)" "02" "duplication" "frameshift" "0000666154" "00003233" "90" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Cys214Tyr)" "04" "substitution" "missense" "0000666155" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "05" "substitution" "missense" "0000666156" "00003233" "97" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Trp)" "03" "substitution" "missense" "0000666157" "00003233" "90" "970" "0" "970" "0" "c.970T>A" "r.(?)" "p.(Cys324Ser)" "06" "substitution" "missense" "0000666158" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "05" "substitution" "missense" "0000666159" "00003233" "97" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(Gln133Arg)" "02" "substitution" "missense" "0000666160" "00003233" "90" "829" "0" "829" "0" "c.829G>T" "r.[829_831del,828_829ins828+1_829-1,829g>u]" "p.[Glu277del,Gln276_Glu277insVLAGLLIGDR*,Glu277*]" "" "" "" "0000677484" "00003233" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Gly303=)" "" "" "" "0000689490" "00003233" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(His93Tyr)" "" "" "" "0000703364" "00003233" "71" "319" "0" "319" "0" "c.319G>C" "r.(?)" "p.(Glu107Gln)" "2" "substitution" "missense" "0000703365" "00003233" "97" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Trp)" "3" "substitution" "missense" "0000703366" "00003233" "11" "614" "0" "614" "0" "c.614T>C" "r.(?)" "p.(Leu205Pro)" "3" "substitution" "missense" "0000703367" "00003233" "97" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "5" "substitution" "missense" "0000720364" "00003233" "30" "413" "6" "413" "6" "c.413+6G>A" "r.(=)" "p.(=)" "" "" "" "0000720365" "00003233" "30" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Trp)" "" "" "" "0000720366" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "" "" "" "0000850879" "00003233" "50" "277" "0" "277" "0" "c.277dup" "r.(?)" "p.(His93Profs*73)" "" "" "" "0000859887" "00003233" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(His93Tyr)" "" "" "" "0000859888" "00003233" "10" "413" "12" "413" "12" "c.413+12C>G" "r.(=)" "p.(=)" "" "" "" "0000859889" "00003233" "50" "723" "1" "723" "1" "c.723+1G>A" "r.spl?" "p.?" "" "" "" "0000859890" "00003233" "30" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Ala272Thr)" "" "" "" "0000886775" "00003233" "30" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Ala272Thr)" "" "" "" "0000912296" "00003233" "90" "277" "0" "277" "0" "c.277dup" "r.(?)" "p.(His93Profs*73)" "" "" "" "0000912297" "00003233" "10" "297" "0" "297" "0" "c.297G>T" "r.(?)" "p.(Val99=)" "" "" "" "0000912298" "00003233" "30" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Ala272Thr)" "" "" "" "0000924316" "00003233" "30" "640" "-93" "640" "-93" "c.640-93G>A" "r.(=)" "p.(=)" "" "" "" "0000924317" "00003233" "30" "640" "-42" "640" "-42" "c.640-42C>A" "r.(=)" "p.(=)" "" "" "" "0000924318" "00003233" "50" "731" "0" "731" "0" "c.731G>A" "r.(?)" "p.(Arg244His)" "" "" "" "0000929061" "00003233" "50" "256" "0" "256" "0" "c.256G>C" "r.(?)" "p.(Glu86Gln)" "" "" "" "0000963565" "00003233" "50" "-4899" "0" "-4899" "0" "c.-4899C>T" "r.(?)" "p.(=)" "" "" "" "0000963566" "00003233" "30" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(=)" "" "" "" "0000976742" "00003233" "30" "315" "0" "315" "0" "c.315C>T" "r.(?)" "p.(=)" "" "" "" "0000976743" "00003233" "90" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Leu206Pro)" "" "" "" "0000994950" "00003233" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(His93Arg)" "" "" "" "0001035128" "00003233" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Trp)" "" "" "" "0001035129" "00003233" "50" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "" "" "" "0001045318" "00003233" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000011584" "0000031236" "0000050336" "0000079316" "0000050336" "0000079648" "0000050616" "0000079596" "0000050616" "0000079695" "0000302758" "0000666109" "0000302758" "0000666110" "0000302759" "0000666111" "0000302760" "0000666112" "0000302760" "0000666113" "0000302761" "0000666114" "0000302761" "0000666115" "0000302762" "0000666116" "0000302763" "0000666117" "0000302764" "0000666118" "0000302765" "0000666119" "0000302766" "0000666120" "0000302767" "0000666121" "0000302768" "0000666122" "0000302769" "0000666123" "0000302770" "0000666124" "0000302771" "0000666125" "0000302772" "0000666126" "0000302773" "0000666127" "0000302774" "0000666128" "0000302775" "0000666129" "0000302776" "0000666130" "0000302777" "0000666131" "0000302778" "0000666132" "0000302779" "0000666133" "0000302780" "0000666134" "0000302781" "0000666135" "0000302782" "0000666136" "0000302799" "0000666153" "0000302799" "0000666154" "0000302800" "0000666155" "0000302800" "0000666156" "0000302801" "0000666157" "0000302802" "0000666158" "0000302802" "0000666159" "0000302803" "0000666160" "0000320643" "0000703364" "0000320643" "0000703366" "0000320644" "0000703365" "0000320644" "0000703367" "0000467506" "0001045318"