### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GTPBP2) # 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}}" "GTPBP2" "GTP binding protein 2" "6" "p21" "unknown" "NC_000006.11" "UD_132463731116" "" "https://www.LOVD.nl/GTPBP2" "" "1" "4670" "54676" "607434" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GTPBP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-15 17:29:34" "00000" "2026-01-20 18:57:21" ## 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}}" "00009049" "GTPBP2" "GTP binding protein 2" "001" "NM_019096.3" "" "NP_061969.3" "" "" "" "-37" "2942" "1809" "43596936" "43588218" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06712" "JABELS" "Jaberi-Elahi syndrome" "AR" "617988" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GTPBP2" "05611" "GTPBP2" "06712" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00121857" "" "" "" "1" "" "01500" "{PMID:Bertoli-Avella 2018:29449720}, {DOI:Bertoli-Avella 2018:10.1038/s41431-018-0097-3}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "index family 1" "00121858" "" "" "" "1" "" "01500" "{PMID:Bertoli-Avella 2018:29449720}, {DOI:Bertoli-Avella 2018:10.1038/s41431-018-0097-3}" "" "M" "yes" "Kuwait" "" "0" "" "" "" "index family 2" "00121859" "" "" "" "1" "" "01500" "{PMID:Bertoli-Avella 2018:29449720}, {DOI:Bertoli-Avella 2018:10.1038/s41431-018-0097-3}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "index family 3" "00208600" "" "" "" "2" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam110" "00443462" "" "" "" "2" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam4Pat5" "00443464" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam5Pat7" "00443465" "" "" "" "3" "" "00006" "{PMID:Jaberi 2016:26675814}" "5-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "DS-100-3" "00443466" "" "" "00443465" "1" "" "00006" "{PMID:Jaberi 2016:26675814}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "DS-100-4" "00443467" "" "" "00443465" "1" "" "00006" "{PMID:Jaberi 2016:26675814}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "DS-100-5" "00443468" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam6Pat8" "00443469" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Italy" "" "0" "" "" "" "Fam7Pat9" "00443470" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam8Pat10" "00443471" "" "" "" "1" "" "00006" "{PMID:Carter 2019:30790272}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Canada" "" "0" "" "" "French-Canadian" "Fam1Pat1" "00443472" "" "" "" "2" "" "00006" "{PMID:Carter 2019:30790272}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "yes" "Somalia" "" "0" "" "" "" "Fam2Pat2/3" "00443474" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam9Pat11" "00443475" "" "" "" "2" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "yes" "Libya" "" "0" "" "" "" "Fam10Pat12" "00443476" "" "" "" "2" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 2 affected (brother/sister), unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam11Pat14" "00443477" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam12Pat16" "00443478" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam14Pat18" "00443479" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam15Pat19" "00443480" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Greece" "" "0" "" "" "" "Fam16Pat20" "00448115" "" "" "00443462" "1" "" "00006" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam4Pat6" "00448122" "" "" "00443475" "1" "" "00006" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "sister" "F" "yes" "Libya" "" "0" "" "" "" "Fam10Pat13" "00448124" "" "" "00443476" "1" "" "00006" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "Fam11Pat15" "00448126" "" "" "" "1" "" "00006" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam13Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00121857" "00139" "00121858" "00139" "00121859" "00139" "00208600" "05489" "00443462" "00198" "00443464" "00198" "00443465" "05611" "00443466" "05611" "00443467" "05611" "00443468" "00198" "00443469" "00198" "00443470" "00198" "00443471" "05611" "00443472" "05611" "00443474" "00198" "00443475" "00198" "00443476" "00198" "00443477" "00198" "00443478" "00198" "00443479" "00198" "00443480" "00198" "00448115" "05611" "00448122" "05611" "00448124" "05611" "00448126" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05489, 05611, 06712 ## Count = 24 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000094169" "00139" "00121857" "01500" "Familial, autosomal recessive" "06y" "see paper; ..." "" "" "" "" "" "" "" "" "JABELS" "intellectual disability" "" "0000094170" "00139" "00121859" "01500" "Familial, autosomal recessive" "02y" "see paper; ..." "" "" "" "" "" "" "" "" "JABELS" "intellectual disability" "" "0000094171" "00139" "00121858" "01500" "Familial, autosomal recessive" "10y" "see paper; ..." "" "" "" "" "" "" "" "" "JABELS" "intellectual disability" "" "0000332801" "05611" "00443465" "00006" "Familial, autosomal recessive" "34y" "ee paper; ..., intellectual disability (IQ43-50); 1y-sit, 2y-walk, 3y-speech; no scoliosis, no kyphoscoliosis; no pectus carinatum; no seizures; wide-based gait, wide-based stance; abnormal finger to nose test; thin sparse brittle hair; normal sensory action potentials; normal compound motor action potentials; neurogenic pattern on needle examination; MRI brain cerebellar vermain atrophy; susceptibility-weighted imaging hypointensity in globus pallidus and substantia nigra; tremor hands, tremor jaws; abnormal hand posturing; normal muscle tone; normal muscle strength; absence of ankle jerks; abnormal plantar reflexes; no myopia; no early onset cataract; anomalies retina; normal muscle enzyme levels; normal thyroid hormone levels; normal electrolyte levels; normal liver and/or kidney function tests" "" "" "" "" "" "" "" "" "JABELS" "intellectual disability" "" "0000332802" "05611" "00443466" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., intellectual disability (IQ47-50); 1y-sit, 2y-walk, 3y-speech; scoliosis or kyphoscoliosis; no pectus carinatum; no seizures; wide-based gait, wide-based stance; abnormal finger to nose test; thin sparse brittle hair; MRI brain cerebellar vermain atrophy; susceptibility-weighted imaging hypointensity in globus pallidus and substantia nigra; no tremor hands, no tremor jaws; normal hand posturing; reduced muscle tone; reduced muscle strength; reduced deep tendon reflexes; abnormal plantar reflexes; no myopia; no early onset cataract; normal muscle enzyme levels; normal thyroid hormone levels; normal electrolyte levels; abnormal liver and/or kidney function tests" "" "" "" "" "" "" "" "" "JABELS" "intellectual disability" "" "0000332803" "05611" "00443467" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., intellectual disability (IQ40-50); 1y-sit, 2y-walk, 3y-speech; scoliosis or kyphoscoliosis; pectus carinatum; generalized tonic clonic seizures; wide-based gait, wide-based stance; abnormal finger to nose test; thin sparse brittle hair; normal sensory action potentials; normal compound motor action potentials; neurogenic pattern on needle examination; MRI brain cerebellar vermain atrophy; susceptibility-weighted imaging hypointensity in globus pallidus and substantia nigra; no tremor hands, no tremor jaws; normal hand posturing; reduced muscle tone; reduced muscle strength; absence of ankle jerks; abnormal plantar reflexes; myopia; early onset cataract; normal muscle enzyme levels; normal thyroid hormone levels; normal electrolyte levels; normal liver and/or kidney function tests" "" "" "" "" "" "" "" "" "JABELS" "intellectual disability" "" "0000332804" "05611" "00443471" "00006" "Familial, autosomal recessive" "19y" "see paper; ..." "" "" "" "" "" "" "" "" "JABELS" "neuro-ectodermal syndrome" "" "0000332805" "05611" "00443472" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "JABELS" "neuro-ectodermal syndrome" "" "0000337307" "05611" "00448115" "00006" "Familial, autosomal recessive" "5y" "delayed motor milestones; profpound neurodevelopmental impairment; epilepsy; MRI brain cerebellar atrophy; microcephaly, thick protruding lips, thin sparse brittle hair, sparse eyebrows; scoliosis or kyphoscoliosis; tapered fingers; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337314" "05611" "00448122" "00006" "Familial, autosomal recessive" "9y" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; normal deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, no keratosis pilaris; normal vision; no strabismus; scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; tapered fingers; pes planus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337316" "05611" "00448124" "00006" "Familial, autosomal recessive" "3y6m" "no tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; no tremor hands/jaws; normal hand movements; normal plantar reflexes; microcephaly, no coarse face, no high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; no pes cavus; no dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337318" "05611" "00448126" "00006" "Familial, autosomal recessive" "2y" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, no keratosis pilaris; abnormal vision; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; pes planus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337325" "00198" "00443462" "00006" "Familial, autosomal recessive" "9y" "delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; ?; tremor hands/jaws; abnormal hand movements; MRI brain hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; abnormal vision; ?; tapered fingers; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337326" "00198" "00443464" "00006" "Familial, autosomal recessive" "7y6m" "severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; normal deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; MRI brain hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; abnormal vision; scoliosis or kyphoscoliosis; limited extension elbow/knees; tapered fingers; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337327" "00198" "00443468" "00006" "Familial, autosomal recessive" "5y" "delayed motor milestones; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; MRI brain hypomyelination, cortical gyral semplification; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, no yellowish skin; abnormal vision; scoliosis or kyphoscoliosis; pectus carinatum; limited extension elbow/knees; tapered fingers; pes planus;" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337328" "00198" "00443469" "00006" "Familial, autosomal recessive" "16y" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; myoclonus; abnormal hand movements; abnormal plantar reflexes; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, keratosis pilaris; abnormal vision; strabismus; scoliosis or kyphoscoliosis; limited extension elbow/knees; tapered fingers; pes planus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337329" "00198" "00443470" "00006" "Familial, autosomal recessive" "4y" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; abnormal hand movements; autistic behaviour; MRI brain no hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, sparse eyebrows, sparse eyelashes; strabismus; excavatum; no dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337330" "00198" "00443474" "00006" "Familial, autosomal recessive" "2y" "delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; axial hypotonia; increased deep tendon reflexes; no myoclonus; abnormal hand movements; normal plantar reflexes; MRI brain cerebellar atrophy; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; normal vision; no strabismus; scoliosis or kyphoscoliosis; no dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337331" "00198" "00443475" "00006" "Familial, autosomal recessive" "11y" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; normal deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, no full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, keratosis pilaris; normal vision; no strabismus; scoliosis or kyphoscoliosis; no pectus carinatum; limited extension elbow/knees; tapered fingers; pes planus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337332" "00198" "00443476" "00006" "Familial, autosomal recessive" "6y" "delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; no epilepsy; increased deep tendon reflexes; no myoclonus; no tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; microcephaly, no coarse face, no high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, no full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; limited extension elbow/knees; no tapered fingers; no pes planus; pes cavus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337333" "00198" "00443477" "00006" "Familial, autosomal recessive" "1y" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; tremor hands/jaws; abnormal hand movements; MRI brain hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; abnormal vision; strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; pes planus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337334" "00198" "00443478" "00006" "Familial, autosomal recessive" "1y" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, no keratosis pilaris; normal vision; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337335" "00198" "00443479" "00006" "Familial, autosomal recessive" "1y" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; tremor hands/jaws; abnormal hand movements; MRI brain hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; abnormal vision; strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; no pes cavus;" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337336" "00198" "00443480" "00006" "Familial, autosomal recessive" "1y" "delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; tremor hands/jaws; abnormal hand movements; MRI brain hypomyelination; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; abnormal vision; strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; no pes cavus;" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000122325" "00121857" "1" "01500" "01500" "2017-09-12 15:09:53" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000122326" "00121858" "1" "01500" "01500" "2017-09-12 15:14:41" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000122327" "00121859" "1" "01500" "01500" "2017-09-12 15:18:59" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000209649" "00208600" "1" "03131" "03131" "2018-12-11 20:17:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000444953" "00443462" "1" "04601" "04601" "2023-11-27 12:59:15" "" "" "SEQ-NG" "DNA" "" "" "0000444955" "00443464" "1" "04601" "04601" "2023-11-27 15:58:40" "" "" "SEQ-NG" "DNA" "" "" "0000444956" "00443465" "1" "00006" "00006" "2023-11-27 15:59:33" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000444957" "00443466" "1" "00006" "00006" "2023-11-27 15:59:33" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000444958" "00443467" "1" "00006" "00006" "2023-11-27 15:59:33" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000444959" "00443468" "1" "04601" "04601" "2023-11-27 16:00:49" "" "" "SEQ-NG" "DNA" "" "" "0000444960" "00443469" "1" "04601" "04601" "2023-11-27 16:02:36" "" "" "SEQ-NG" "DNA" "" "" "0000444961" "00443470" "1" "04601" "04601" "2023-11-27 16:04:28" "" "" "SEQ-NG" "DNA" "" "" "0000444962" "00443471" "1" "00006" "00006" "2023-11-27 16:22:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444963" "00443472" "1" "00006" "00006" "2023-11-27 16:27:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444964" "00443474" "1" "04601" "04601" "2023-11-27 17:07:46" "00006" "2024-02-15 21:03:55" "RT-PCR;SEQ-NG" "DNA;RNA" "" "" "0000444967" "00443475" "1" "04601" "04601" "2023-11-27 17:22:09" "" "" "SEQ-NG" "DNA" "" "" "0000444968" "00443476" "1" "04601" "04601" "2023-11-27 17:24:06" "" "" "SEQ-NG" "DNA" "" "" "0000444969" "00443477" "1" "04601" "04601" "2023-11-27 17:27:09" "" "" "SEQ-NG" "DNA" "" "" "0000444970" "00443478" "1" "04601" "04601" "2023-11-27 17:29:32" "" "" "SEQ-NG" "DNA" "" "" "0000444971" "00443479" "1" "04601" "04601" "2023-11-27 17:31:26" "" "" "SEQ-NG" "DNA" "" "" "0000444972" "00443480" "1" "04601" "04601" "2023-11-27 17:33:11" "" "" "SEQ-NG" "DNA" "" "" "0000449688" "00448115" "1" "00006" "00006" "2024-02-15 19:21:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449695" "00448122" "1" "00006" "00006" "2024-02-15 19:21:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449697" "00448124" "1" "00006" "00006" "2024-02-15 19:21:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449699" "00448126" "1" "00006" "00006" "2024-02-15 19:21:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 74 "{{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}}" "0000211216" "3" "90" "6" "43591687" "43591687" "subst" "0" "01500" "GTPBP2_000001" "g.43591687G>A" "" "{PMID:Bertoli-Avella 2018:29449720}, {DOI:Bertoli-Avella 2018:10.1038/s41431-018-0097-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43623950G>A" "" "pathogenic" "" "0000211217" "3" "90" "6" "43590429" "43590429" "subst" "0" "01500" "GTPBP2_000002" "g.43590429G>A" "" "{PMID:Bertoli-Avella 2018:29449720}, {DOI:Bertoli-Avella 2018:10.1038/s41431-018-0097-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43622692G>A" "" "pathogenic" "" "0000211218" "3" "90" "6" "43593570" "43593570" "subst" "0" "01500" "GTPBP2_000003" "g.43593570G>A" "" "{PMID:Bertoli-Avella 2018:29449720}, {DOI:Bertoli-Avella 2018:10.1038/s41431-018-0097-3}" "" "" "" "Germline" "" "" "0" "" "" "g.43625833G>A" "" "pathogenic" "" "0000250160" "0" "10" "6" "43581935" "43581935" "subst" "0.0214369" "02329" "POLH_000022" "g.43581935A>G" "" "" "" "POLH(NM_001291969.1):c.1411A>G (p.(Met471Val)), POLH(NM_006502.3):c.1783A>G (p.M595V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43614198A>G" "" "benign" "" "0000256661" "0" "50" "6" "43572363" "43572363" "subst" "4.06151E-6" "01943" "POLH_000018" "g.43572363A>G" "" "" "" "POLH(NM_006502.2):c.896A>G (p.Y299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43604626A>G" "" "VUS" "" "0000297250" "0" "10" "6" "43565568" "43565568" "subst" "0.00383338" "02325" "POLH_000016" "g.43565568G>T" "" "" "" "POLH(NM_006502.2):c.626G>T (p.G209V, p.(Gly209Val)), POLH(NM_006502.3):c.626G>T (p.G209V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43597831G>T" "" "benign" "" "0000299048" "0" "30" "6" "43581405" "43581407" "del" "0" "02329" "POLH_000019" "g.43581405_43581407del" "" "" "" "POLH(NM_006502.2):c.1253_1255delCTC (p.P418del), POLH(NM_006502.3):c.1253_1255delCTC (p.P418del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43613668_43613670del" "" "likely benign" "" "0000299049" "0" "50" "6" "43550182" "43550182" "subst" "1.62423E-5" "02329" "POLH_000015" "g.43550182G>C" "" "" "" "POLH(NM_006502.3):c.126G>C (p.W42C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43582445G>C" "" "VUS" "" "0000299050" "0" "30" "6" "43581720" "43581720" "subst" "4.0792E-6" "02329" "POLH_000020" "g.43581720G>C" "" "" "" "POLH(NM_006502.3):c.1568G>C (p.S523T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43613983G>C" "" "likely benign" "" "0000299051" "0" "30" "6" "43581902" "43581902" "subst" "2.03039E-5" "02329" "POLH_000021" "g.43581902C>T" "" "" "" "POLH(NM_006502.3):c.1750C>T (p.L584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43614165C>T" "" "likely benign" "" "0000299052" "0" "10" "6" "43565568" "43565568" "subst" "0.00383338" "02329" "POLH_000016" "g.43565568G>T" "" "" "" "POLH(NM_006502.2):c.626G>T (p.G209V, p.(Gly209Val)), POLH(NM_006502.3):c.626G>T (p.G209V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43597831G>T" "" "benign" "" "0000299053" "0" "50" "6" "43568821" "43568821" "subst" "2.03079E-5" "02329" "POLH_000017" "g.43568821C>T" "" "" "" "POLH(NM_006502.3):c.757C>T (p.R253C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43601084C>T" "" "VUS" "" "0000306129" "0" "50" "6" "43581405" "43581407" "del" "0" "01943" "POLH_000019" "g.43581405_43581407del" "" "" "" "POLH(NM_006502.2):c.1253_1255delCTC (p.P418del), POLH(NM_006502.3):c.1253_1255delCTC (p.P418del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43613668_43613670del" "" "VUS" "" "0000306130" "0" "30" "6" "43581967" "43581967" "subst" "5.30452E-5" "01943" "POLH_000023" "g.43581967C>T" "" "" "" "POLH(NM_006502.2):c.1815C>T (p.H605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43614230C>T" "" "likely benign" "" "0000351195" "0" "50" "6" "43591669" "43591669" "subst" "4.06841E-6" "02327" "GTPBP2_000004" "g.43591669C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43623932C>T" "" "VUS" "" "0000439833" "0" "50" "6" "43596814" "43596814" "subst" "0.040478" "03131" "GTPBP2_000005" "g.43596814C>G" "" "" "" "" "" "Germline" "yes" "rs112851070" "0" "" "" "g.43629077C>G" "" "VUS" "" "0000528934" "0" "50" "6" "43550882" "43550882" "subst" "0.000190998" "01943" "GTPBP2_000006" "g.43550882A>G" "" "" "" "POLH(NM_006502.2):c.272+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43583145A>G" "" "VUS" "" "0000528936" "0" "70" "6" "43555068" "43555068" "subst" "4.06062E-5" "02325" "GTPBP2_000007" "g.43555068G>A" "" "" "" "POLH(NM_006502.3):c.332G>A (p.R111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43587331G>A" "" "likely pathogenic" "" "0000528937" "0" "30" "6" "43565524" "43565524" "subst" "0" "01943" "GTPBP2_000008" "g.43565524A>T" "" "" "" "POLH(NM_006502.2):c.582A>T (p.A194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43597787A>T" "" "likely benign" "" "0000528938" "0" "10" "6" "43565568" "43565568" "subst" "0.00383338" "01943" "POLH_000016" "g.43565568G>T" "" "" "" "POLH(NM_006502.2):c.626G>T (p.G209V, p.(Gly209Val)), POLH(NM_006502.3):c.626G>T (p.G209V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43597831G>T" "" "benign" "" "0000528939" "0" "30" "6" "43568715" "43568715" "subst" "3.65586E-5" "01943" "GTPBP2_000009" "g.43568715A>C" "" "" "" "POLH(NM_006502.2):c.661-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600978A>C" "" "likely benign" "" "0000528940" "0" "90" "6" "43572357" "43572357" "subst" "0" "01943" "GTPBP2_000010" "g.43572357G>A" "" "" "" "POLH(NM_006502.2):c.890G>A (p.W297*), POLH(NM_006502.3):c.890G>A (p.W297*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43604620G>A" "" "pathogenic" "" "0000528941" "0" "50" "6" "43578327" "43578327" "subst" "0.000284405" "01943" "GTPBP2_000011" "g.43578327C>T" "" "" "" "POLH(NM_006502.2):c.1111C>T (p.R371C), POLH(NM_006502.3):c.1111C>T (p.R371C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43610590C>T" "" "VUS" "" "0000528942" "0" "30" "6" "43581755" "43581755" "subst" "0.000887564" "01943" "GTPBP2_000012" "g.43581755A>G" "" "" "" "POLH(NM_006502.2):c.1603A>G (p.K535E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43614018A>G" "" "likely benign" "" "0000528943" "0" "30" "6" "43582117" "43582117" "subst" "2.43649E-5" "01943" "GTPBP2_000013" "g.43582117T>C" "" "" "" "POLH(NM_006502.2):c.1965T>C (p.F655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43614380T>C" "" "likely benign" "" "0000528944" "0" "50" "6" "43582176" "43582176" "subst" "0.00175431" "01943" "GTPBP2_000014" "g.43582176C>A" "" "" "" "POLH(NM_006502.2):c.2024C>A (p.S675Y), POLH(NM_006502.3):c.2024C>A (p.S675Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43614439C>A" "" "VUS" "" "0000610369" "0" "50" "6" "43555049" "43555049" "subst" "4.06072E-6" "01943" "GTPBP2_000016" "g.43555049C>T" "" "" "" "POLH(NM_006502.2):c.313C>T (p.R105C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43587312C>T" "" "VUS" "" "0000621712" "0" "90" "6" "43550052" "43550052" "subst" "4.06072E-6" "02325" "GTPBP2_000015" "g.43550052G>A" "" "" "" "POLH(NM_006502.3):c.-4-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43582315G>A" "" "pathogenic" "" "0000655599" "0" "90" "6" "43572357" "43572357" "subst" "0" "02325" "GTPBP2_000010" "g.43572357G>A" "" "" "" "POLH(NM_006502.2):c.890G>A (p.W297*), POLH(NM_006502.3):c.890G>A (p.W297*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43604620G>A" "" "pathogenic" "" "0000689744" "0" "30" "6" "43582014" "43582014" "subst" "6.76093E-5" "01943" "GTPBP2_000017" "g.43582014C>T" "" "" "" "POLH(NM_006502.2):c.1862C>T (p.T621I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802611" "0" "50" "6" "43555032" "43555032" "subst" "1.6243E-5" "01943" "GTPBP2_000018" "g.43555032T>C" "" "" "" "POLH(NM_006502.2):c.296T>C (p.V99A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802612" "0" "50" "6" "43573049" "43573049" "subst" "5.33732E-5" "02325" "GTPBP2_000019" "g.43573049G>A" "" "" "" "POLH(NM_006502.2):c.1067G>A (p.(Arg356Gln)), POLH(NM_006502.3):c.1067G>A (p.R356Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802613" "0" "50" "6" "43589398" "43589398" "subst" "0" "01943" "GTPBP2_000020" "g.43589398C>T" "" "" "" "GTPBP2(NM_019096.5):c.1762G>A (p.V588I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851240" "0" "10" "6" "43540302" "43540302" "subst" "0.00312749" "02326" "GTPBP2_000021" "g.43540302C>T" "" "" "" "XPO5(NM_020750.3):c.241G>A (p.G81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851241" "0" "10" "6" "43555183" "43555183" "subst" "0.00153495" "02326" "GTPBP2_000022" "g.43555183G>T" "" "" "" "POLH(NM_006502.2):c.447G>T (p.G149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851242" "0" "30" "6" "43568802" "43568802" "subst" "0.000629457" "02325" "GTPBP2_000023" "g.43568802C>T" "" "" "" "POLH(NM_006502.3):c.738C>T (p.L246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860361" "0" "10" "6" "43581586" "43581586" "subst" "0.0436072" "01804" "GTPBP2_000024" "g.43581586G>A" "" "" "" "POLH(NM_006502.2):c.1434G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860362" "0" "10" "6" "43581935" "43581935" "subst" "0.0214369" "01804" "POLH_000022" "g.43581935A>G" "" "" "" "POLH(NM_001291969.1):c.1411A>G (p.(Met471Val)), POLH(NM_006502.3):c.1783A>G (p.M595V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912524" "0" "30" "6" "43571679" "43571679" "subst" "0.00112922" "02325" "GTPBP2_000025" "g.43571679T>C" "" "" "" "POLH(NM_006502.3):c.815T>C (p.I272T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924519" "0" "30" "6" "43565418" "43565418" "subst" "0" "02329" "GTPBP2_000026" "g.43565418C>T" "" "" "" "POLH(NM_006502.3):c.491-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946891" "3" "90" "6" "43590429" "43590429" "subst" "0" "04601" "GTPBP2_000002" "g.43590429G>A" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43622692G>A" "" "pathogenic (recessive)" "" "0000946893" "3" "90" "6" "43591533" "43591533" "subst" "0" "00006" "GTPBP2_000038" "g.43591533C>A" "" "{PMID:Jaberi 2016:26675814}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43623796C>A" "" "pathogenic (recessive)" "" "0000946894" "3" "90" "6" "43591533" "43591533" "subst" "0" "00006" "GTPBP2_000038" "g.43591533C>A" "" "{PMID:Jaberi 2016:26675814}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43623796C>A" "" "pathogenic (recessive)" "" "0000946895" "3" "90" "6" "43591533" "43591533" "subst" "0" "00006" "GTPBP2_000038" "g.43591533C>A" "" "{PMID:Jaberi 2016:26675814}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43623796C>A" "" "pathogenic (recessive)" "" "0000946896" "3" "90" "6" "43592353" "43592353" "subst" "0" "04601" "GTPBP2_000029" "g.43592353G>A" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "rs1252019134" "0" "" "" "g.43624616G>A" "" "pathogenic (recessive)" "" "0000946897" "3" "90" "6" "43591669" "43591669" "subst" "4.06841E-6" "04601" "GTPBP2_000004" "g.43591669C>T" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "rs770834648" "0" "" "" "g.43623932C>T" "" "pathogenic (recessive)" "" "0000946898" "3" "90" "6" "43589811" "43589811" "subst" "1.21819E-5" "04601" "GTPBP2_000031" "g.43589811G>A" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43622074G>A" "" "pathogenic (recessive)" "" "0000946899" "3" "90" "6" "43589847" "43589848" "del" "0" "04601" "GTPBP2_000030" "g.43589847_43589848del" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "g.43622107del" "" "Germline" "" "" "0" "" "" "g.43622110_43622111del" "" "pathogenic (recessive)" "" "0000946900" "1" "90" "6" "43589814" "43589814" "subst" "8.12117E-6" "00006" "GTPBP2_000027" "g.43589814G>A" "" "{PMID:Carter 2019:30790272}" "" "" "" "Germline" "" "" "0" "" "" "g.43622077G>A" "" "pathogenic (recessive)" "" "0000946901" "2" "90" "6" "43593150" "43593150" "subst" "1.21819E-5" "00006" "GTPBP2_000028" "g.43593150G>A" "" "{PMID:Carter 2019:30790272}" "" "" "" "Germline" "" "" "0" "" "" "g.43625413G>A" "" "pathogenic (recessive)" "" "0000946902" "3" "90" "6" "43590429" "43590429" "subst" "0" "00006" "GTPBP2_000002" "g.43590429G>A" "" "{PMID:Carter 2019:30790272}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43622692G>A" "" "pathogenic (recessive)" "" "0000946907" "3" "90" "6" "43591669" "43591669" "subst" "4.06841E-6" "04601" "GTPBP2_000004" "g.43591669C>T" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43623932C>T" "" "pathogenic (recessive)" "" "0000946909" "3" "90" "6" "43593987" "43593987" "subst" "0" "04601" "GTPBP2_000032" "g.43593987T>C" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "rs1399993191" "0" "" "" "g.43626250T>C" "" "pathogenic (recessive)" "" "0000946910" "3" "90" "6" "43592392" "43592392" "subst" "0" "04601" "GTPBP2_000033" "g.43592392C>T" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43624655C>T" "" "pathogenic (recessive)" "" "0000946911" "3" "90" "6" "43594083" "43594083" "subst" "0" "04601" "GTPBP2_000034" "g.43594083A>G" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43626346A>G" "" "pathogenic (recessive)" "" "0000946912" "3" "90" "6" "43594000" "43594000" "subst" "0" "04601" "GTPBP2_000035" "g.43594000G>A" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43626263G>A" "" "pathogenic (recessive)" "" "0000946913" "3" "90" "6" "43592293" "43592294" "del" "0" "04601" "GTPBP2_000036" "g.43592293_43592294del" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "g.43624556del" "" "Germline" "" "" "0" "" "" "g.43624556_43624557del" "" "pathogenic (recessive)" "" "0000946914" "3" "90" "6" "43596892" "43596892" "subst" "0" "04601" "GTPBP2_000037" "g.43596892G>T" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "g.43629155del" "" "Germline" "" "" "0" "" "" "g.43596892G>T" "" "pathogenic (recessive)" "" "0000960125" "3" "70" "6" "43590429" "43590429" "subst" "0" "00006" "GTPBP2_000002" "g.43590429G>A" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43622692G>A" "" "likely pathogenic (recessive)" "" "0000960132" "3" "70" "6" "43593987" "43593987" "subst" "0" "00006" "GTPBP2_000032" "g.43593987T>C" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "rs1399993191" "0" "" "" "g.43626250T>C" "" "likely pathogenic (recessive)" "" "0000960134" "3" "70" "6" "43592392" "43592392" "subst" "0" "00006" "GTPBP2_000033" "g.43592392C>T" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43624655C>T" "" "likely pathogenic (recessive)" "" "0000960136" "3" "70" "6" "43594083" "43594083" "subst" "0" "00006" "GTPBP2_000034" "g.43594083A>G" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.43626346A>G" "" "likely pathogenic (recessive)" "" "0000964153" "0" "50" "6" "43581425" "43581425" "subst" "0" "02325" "GTPBP2_000039" "g.43581425T>G" "" "" "" "POLH(NM_006502.3):c.1273T>G (p.C425G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964154" "0" "50" "6" "43581755" "43581755" "subst" "8.14279E-6" "02329" "GTPBP2_000040" "g.43581755A>C" "" "" "" "POLH(NM_006502.3):c.1603A>C (p.K535Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977264" "0" "50" "6" "43590521" "43590521" "del" "0" "01804" "GTPBP2_000041" "g.43590521del" "" "" "" "GTPBP2(NM_019096.5):c.1316del (p.(Asp439Alafs*16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995783" "0" "30" "6" "43565568" "43565568" "subst" "0.00383338" "01804" "POLH_000016" "g.43565568G>T" "" "" "" "POLH(NM_006502.2):c.626G>T (p.G209V, p.(Gly209Val)), POLH(NM_006502.3):c.626G>T (p.G209V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995784" "0" "50" "6" "43573049" "43573049" "subst" "5.33732E-5" "01804" "GTPBP2_000019" "g.43573049G>A" "" "" "" "POLH(NM_006502.2):c.1067G>A (p.(Arg356Gln)), POLH(NM_006502.3):c.1067G>A (p.R356Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995785" "0" "30" "6" "43582176" "43582176" "subst" "0.00175431" "02329" "GTPBP2_000014" "g.43582176C>A" "" "" "" "POLH(NM_006502.2):c.2024C>A (p.S675Y), POLH(NM_006502.3):c.2024C>A (p.S675Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025231" "0" "50" "6" "43555149" "43555149" "subst" "4.87278E-5" "02329" "GTPBP2_000042" "g.43555149C>T" "" "" "" "POLH(NM_006502.3):c.413C>T (p.S138L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025232" "0" "30" "6" "43571679" "43571679" "subst" "0.00112922" "02329" "GTPBP2_000025" "g.43571679T>C" "" "" "" "POLH(NM_006502.3):c.815T>C (p.I272T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025233" "0" "50" "6" "43578327" "43578327" "subst" "0.000284405" "02325" "GTPBP2_000011" "g.43578327C>T" "" "" "" "POLH(NM_006502.2):c.1111C>T (p.R371C), POLH(NM_006502.3):c.1111C>T (p.R371C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035802" "0" "30" "6" "43589361" "43589361" "subst" "2.03069E-5" "01804" "GTPBP2_000043" "g.43589361A>G" "" "" "" "GTPBP2(NM_019096.5):c.1799T>C (p.(Met600Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052369" "0" "30" "6" "43581512" "43581512" "subst" "2.43815E-5" "01804" "GTPBP2_000044" "g.43581512G>A" "" "" "" "POLH(NM_006502.3):c.1360G>A (p.(Val454Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064556" "0" "50" "6" "43581662" "43581662" "subst" "4.07667E-6" "02325" "GTPBP2_000045" "g.43581662C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 GTPBP2 ## Count = 74 "{{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}}" "0000211216" "00009049" "90" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Gln407*)" "" "0000211217" "00009049" "90" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Arg470*)" "" "0000211218" "00009049" "90" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144*)" "" "0000250160" "00009049" "10" "9225" "0" "9225" "0" "c.*7416T>C" "r.(=)" "p.(=)" "" "0000256661" "00009049" "50" "18797" "0" "18797" "0" "c.*16988T>C" "r.(=)" "p.(=)" "" "0000297250" "00009049" "10" "25592" "0" "25592" "0" "c.*23783C>A" "r.(=)" "p.(=)" "" "0000299048" "00009049" "30" "9759" "0" "9761" "0" "c.*7950_*7952del" "r.(=)" "p.(=)" "" "0000299049" "00009049" "50" "40978" "0" "40978" "0" "c.*39169C>G" "r.(=)" "p.(=)" "" "0000299050" "00009049" "30" "9440" "0" "9440" "0" "c.*7631C>G" "r.(=)" "p.(=)" "" "0000299051" "00009049" "30" "9258" "0" "9258" "0" "c.*7449G>A" "r.(=)" "p.(=)" "" "0000299052" "00009049" "10" "25592" "0" "25592" "0" "c.*23783C>A" "r.(=)" "p.(=)" "" "0000299053" "00009049" "50" "22339" "0" "22339" "0" "c.*20530G>A" "r.(=)" "p.(=)" "" "0000306129" "00009049" "50" "9759" "0" "9761" "0" "c.*7950_*7952del" "r.(=)" "p.(=)" "" "0000306130" "00009049" "30" "9193" "0" "9193" "0" "c.*7384G>A" "r.(=)" "p.(=)" "" "0000351195" "00009049" "50" "1236" "1" "1236" "1" "c.1236+1G>A" "r.spl?" "p.?" "" "0000439833" "00009049" "50" "86" "0" "86" "0" "c.86G>C" "r.(?)" "p.(Gly29Ala)" "" "0000528934" "00009049" "50" "40278" "0" "40278" "0" "c.*38469T>C" "r.(=)" "p.(=)" "" "0000528936" "00009049" "70" "36092" "0" "36092" "0" "c.*34283C>T" "r.(=)" "p.(=)" "" "0000528937" "00009049" "30" "25636" "0" "25636" "0" "c.*23827T>A" "r.(=)" "p.(=)" "" "0000528938" "00009049" "10" "25592" "0" "25592" "0" "c.*23783C>A" "r.(=)" "p.(=)" "" "0000528939" "00009049" "30" "22445" "0" "22445" "0" "c.*20636T>G" "r.(=)" "p.(=)" "" "0000528940" "00009049" "90" "18803" "0" "18803" "0" "c.*16994C>T" "r.(=)" "p.(=)" "" "0000528941" "00009049" "50" "12833" "0" "12833" "0" "c.*11024G>A" "r.(=)" "p.(=)" "" "0000528942" "00009049" "30" "9405" "0" "9405" "0" "c.*7596T>C" "r.(=)" "p.(=)" "" "0000528943" "00009049" "30" "9043" "0" "9043" "0" "c.*7234A>G" "r.(=)" "p.(=)" "" "0000528944" "00009049" "50" "8984" "0" "8984" "0" "c.*7175G>T" "r.(=)" "p.(=)" "" "0000610369" "00009049" "50" "36111" "0" "36111" "0" "c.*34302G>A" "r.(=)" "p.(=)" "" "0000621712" "00009049" "90" "41108" "0" "41108" "0" "c.*39299C>T" "r.(=)" "p.(=)" "" "0000655599" "00009049" "90" "18803" "0" "18803" "0" "c.*16994C>T" "r.(=)" "p.(=)" "" "0000689744" "00009049" "30" "9146" "0" "9146" "0" "c.*7337G>A" "r.(=)" "p.(=)" "" "0000802611" "00009049" "50" "36128" "0" "36128" "0" "c.*34319A>G" "r.(=)" "p.(=)" "" "0000802612" "00009049" "50" "18111" "0" "18111" "0" "c.*16302C>T" "r.(=)" "p.(=)" "" "0000802613" "00009049" "50" "1762" "0" "1762" "0" "c.1762G>A" "r.(?)" "p.(Val588Ile)" "" "0000851240" "00009049" "10" "50858" "0" "50858" "0" "c.*49049G>A" "r.(=)" "p.(=)" "" "0000851241" "00009049" "10" "35977" "0" "35977" "0" "c.*34168C>A" "r.(=)" "p.(=)" "" "0000851242" "00009049" "30" "22358" "0" "22358" "0" "c.*20549G>A" "r.(=)" "p.(=)" "" "0000860361" "00009049" "10" "9574" "0" "9574" "0" "c.*7765C>T" "r.(=)" "p.(=)" "" "0000860362" "00009049" "10" "9225" "0" "9225" "0" "c.*7416T>C" "r.(=)" "p.(=)" "" "0000912524" "00009049" "30" "19481" "0" "19481" "0" "c.*17672A>G" "r.(=)" "p.(=)" "" "0000924519" "00009049" "30" "25742" "0" "25742" "0" "c.*23933G>A" "r.(=)" "p.(=)" "" "0000946891" "00009049" "90" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Arg470*)" "" "0000946893" "00009049" "90" "1237" "-1" "1237" "-1" "c.1237-1G>T" "r.1237_1295del" "p.Val413TrpfsTer5" "8i" "0000946894" "00009049" "90" "1237" "-1" "1237" "-1" "c.1237-1G>T" "r.1237_1295del" "p.Val413TrpfsTer5" "8i" "0000946895" "00009049" "90" "1237" "-1" "1237" "-1" "c.1237-1G>T" "r.1237_1295del" "p.Val413TrpfsTer5" "8i" "0000946896" "00009049" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Gln332*)" "" "0000946897" "00009049" "90" "1236" "1" "1236" "1" "c.1236+1G>A" "r.spl" "p.?" "" "0000946898" "00009049" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521*)" "" "0000946899" "00009049" "90" "1527" "0" "1528" "0" "c.1527_1528del" "r.(?)" "p.(Glu509Aspfs*78)" "" "0000946900" "00009049" "90" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Arg520*)" "" "0000946901" "00009049" "90" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219*)" "" "0000946902" "00009049" "90" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Arg470*)" "" "0000946907" "00009049" "90" "1236" "1" "1236" "1" "c.1236+1G>A" "r.1236_1237ins[a;1236+1_1237-1]" "p.Val413Ilefs*8" "8i" "0000946909" "00009049" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Lys125Arg)" "" "0000946910" "00009049" "90" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Asp319Asn)" "" "0000946911" "00009049" "90" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Leu93Pro)" "" "0000946912" "00009049" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Ter)" "" "0000946913" "00009049" "90" "1053" "0" "1054" "0" "c.1053_1054del" "r.(?)" "p.(Glu352GlyfsTer2)" "" "0000946914" "00009049" "90" "8" "0" "8" "0" "c.8C>A" "r.(?)" "p.(Ser3Ter)" "" "0000960125" "00009049" "70" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Arg470Ter)" "10" "0000960132" "00009049" "70" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Lys125Arg)" "3" "0000960134" "00009049" "70" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Asp319Asn)" "7" "0000960136" "00009049" "70" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Leu93Pro)" "3" "0000964153" "00009049" "50" "9735" "0" "9735" "0" "c.*7926A>C" "r.(=)" "p.(=)" "" "0000964154" "00009049" "50" "9405" "0" "9405" "0" "c.*7596T>G" "r.(=)" "p.(=)" "" "0000977264" "00009049" "50" "1316" "0" "1316" "0" "c.1316del" "r.(?)" "p.(Asp439Alafs*16)" "" "0000995783" "00009049" "30" "25592" "0" "25592" "0" "c.*23783C>A" "r.(=)" "p.(=)" "" "0000995784" "00009049" "50" "18111" "0" "18111" "0" "c.*16302C>T" "r.(=)" "p.(=)" "" "0000995785" "00009049" "30" "8984" "0" "8984" "0" "c.*7175G>T" "r.(=)" "p.(=)" "" "0001025231" "00009049" "50" "36011" "0" "36011" "0" "c.*34202G>A" "r.(=)" "p.(=)" "" "0001025232" "00009049" "30" "19481" "0" "19481" "0" "c.*17672A>G" "r.(=)" "p.(=)" "" "0001025233" "00009049" "50" "12833" "0" "12833" "0" "c.*11024G>A" "r.(=)" "p.(=)" "" "0001035802" "00009049" "30" "1799" "0" "1799" "0" "c.1799T>C" "r.(?)" "p.(Met600Thr)" "" "0001052369" "00009049" "30" "9648" "0" "9648" "0" "c.*7839C>T" "r.(=)" "p.(=)" "" "0001064556" "00009049" "50" "9498" "0" "9498" "0" "c.*7689G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000122325" "0000211216" "0000122326" "0000211217" "0000122327" "0000211218" "0000209649" "0000439833" "0000444953" "0000946891" "0000444955" "0000946896" "0000444956" "0000946893" "0000444957" "0000946894" "0000444958" "0000946895" "0000444959" "0000946897" "0000444960" "0000946898" "0000444961" "0000946899" "0000444962" "0000946900" "0000444962" "0000946901" "0000444963" "0000946902" "0000444964" "0000946907" "0000444967" "0000946909" "0000444968" "0000946910" "0000444969" "0000946911" "0000444970" "0000946912" "0000444971" "0000946913" "0000444972" "0000946914" "0000449688" "0000960125" "0000449695" "0000960132" "0000449697" "0000960134" "0000449699" "0000960136"