### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBA4A) # 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}}" "TUBA4A" "tubulin, alpha 4a" "2" "q36.1" "unknown" "NC_000002.11" "UD_132084387654" "" "https://www.LOVD.nl/TUBA4A" "" "1" "12407" "7277" "191110" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-04-01 11:00:18" "00006" "2026-04-02 19:46:22" ## 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}}" "00022124" "TUBA4A" "tubulin, alpha 4a" "001" "NM_006000.1" "" "NP_005991.1" "" "" "" "-58" "1420" "1347" "220118638" "220115001" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00096" "FTD" "dementia, frontotemporal (FTD)" "AD" "600274" "" "" "" "00008" "2012-12-10 14:01:50" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05049" "FTDALS9;ALS22" "dementia, frontotemporal, and/or amyotrophic lateral sclerosis, type 9" "AD" "616208" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2026-04-01 11:03:41" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "07251" "CMYO26" "myopathy, congenital, type 26" "AD" "621225" "" "" "" "00006" "2026-04-01 11:01:17" "" "" "07252" "OZEMA23" "oocyte/zygote/embryo maturation arrest, type 23" "AD;AR" "621231" "" "" "" "00006" "2026-04-01 11:05:12" "" "" "07253" "SPAX11" "ataxia, spastic, type 11, autosomal dominant" "AD" "621226" "" "" "" "00006" "2026-04-01 11:06:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TUBA4A" "05049" "TUBA4A" "07251" "TUBA4A" "07252" "TUBA4A" "07253" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{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}}" "00248398" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00325365" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00472942" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam301298Pat39" "00475095" "" "" "" "1" "" "00006" "{PMID:Smith 2014:25374358}" "patient" "M" "" "Italy" "" "0" "" "" "" "Pat1" "00475096" "" "" "" "5" "" "00006" "{PMID:Smith 2014:25374358}" "4-generation family, 5 affected (2F, 3M))" "M" "" "United States" "" "0" "" "" "" "Pat2" "00475097" "" "" "" "1" "" "00006" "{PMID:Smith 2014:25374358}" "2-generation family, affected female (and mother)" "F" "" "Spain" "" "0" "" "" "" "Pat3" "00475098" "" "" "" "2" "" "00006" "{PMID:Smith 2014:25374358}" "2-generation family, 2 affected brothers" "M" "" "Italy" "" "0" "" "" "" "Pat4" "00475099" "" "" "" "2" "" "00006" "{PMID:Smith 2014:25374358}" "4-generation family, 2 affected (female and grand-grandmaternal mother)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat5" "00475100" "" "" "" "2" "" "00006" "{PMID:Smith 2014:25374358}" "2-generation family, 2 affected (son/mother)" "M" "" "Italy" "" "0" "" "" "" "Pat6" "00475101" "" "" "" "2" "" "00006" "{PMID:Smith 2014:25374358}" "3-generation family, 2 affected nieces" "F" "" "Netherlands" "" "0" "" "" "" "Pat7" "00475102" "" "" "" "1" "" "00006" "{PMID:Smith 2014:25374358}" "2-generation family, 2 affected (daughter/father)" "F" "" "Italy" "" "0" "" "" "" "Pat8" "00475103" "" "" "" "1" "" "00006" "{PMID:Wan 2024:38413182}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat1" "00475104" "" "" "" "1" "" "00006" "{PMID:Wan 2024:38413182}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat2" "00475105" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "white" "Fam1Pat1" "00475106" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "white" "Fam2Pat2" "00475107" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "white" "Fam3Pat3" "00475108" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "white" "Fam4Pat4" "00475109" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "white" "Fam5Pat5" "00475110" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam6Pat6" "00475111" "" "" "" "2" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 2 affected brothers/unaffected sister, unaffected parents" "M" "" "" "" "0" "" "" "white" "Fam7Pat7" "00475112" "" "" "00475111" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "brother" "M" "" "" "" "0" "" "" "white" "Fam7Pat8" "00475113" "" "" "" "4" "" "00006" "{PMID:Benkirane 2024:38884572}" "3-generation family, 4 affected (brother/mother/2 boys)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam8Pat9" "00475114" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam9Pat10" "00475115" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "India" "Fam10Pat11" "00475116" "" "" "" "1" "" "00006" "{PMID:Benkirane 2024:38884572}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "white" "Fam11Pat12" "00475117" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Trio1" "00475118" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Trio2" "00475119" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Trio3" "00475120" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat1" "00475121" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat2" "00475122" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat3" "00475123" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat4" "00475124" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat5" "00475125" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat6" "00475126" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat7" "00475127" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat8" "00475128" "" "" "" "1" "" "00006" "{PMID:Li 2023:37024973}" "patient" "F" "" "China" "" "0" "" "" "" "Pat9" "00475129" "" "" "" "1" "" "00006" "{PMID:Li 2023:39872894}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Trio1" "00475130" "" "" "" "1" "" "00006" "{PMID:Li 2023:39872894}" "patient" "F" "" "China" "" "0" "" "" "" "Pat1" "00475131" "" "" "" "1" "" "00006" "{PMID:Li 2023:39872894}" "patient" "F" "" "China" "" "0" "" "" "" "Pat2" "00475134" "" "" "" "1" "" "00006" "{PMID:Hu 2024:39209701}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "China" "" "0" "" "" "" "Pat3" "00475135" "" "" "" "1" "" "00006" "{PMID:Hu 2024:39209701}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "China" "" "0" "" "" "" "Pat4" "00475136" "" "" "" "11" "" "00006" "{PMID:Torella 2023:37418012}" "4-generation family, 11 affected (4F, 7M)" "F" "" "Italy" "" "0" "" "" "" "Fam1PatII2" "00475137" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "daughter" "F" "" "Italy" "" "0" "" "" "" "Fam1PatIII2" "00475138" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "daughter" "F" "" "Italy" "" "0" "" "" "" "Fam1PatIII4" "00475139" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "daughter" "F" "" "Italy" "" "0" "" "" "" "Fam1PatIII6" "00475140" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "grandson" "M" "" "Italy" "" "0" "" "" "" "Fam1PatIV1" "00475141" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "grandson" "M" "" "Italy" "" "0" "" "" "" "Fam1PatIV3" "00475142" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "grandson" "M" "" "Italy" "" "0" "" "" "" "Fam1PatIV4" "00475143" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "grandson" "M" "" "Italy" "" "0" "" "" "" "Fam1PatIV5" "00475144" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "grandson" "M" "" "Italy" "" "0" "" "" "" "Fam1PatIV6" "00475145" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "grandson" "M" "" "Italy" "" "0" "" "" "" "Fam1PatIV7" "00475146" "" "" "00475136" "1" "" "00006" "{PMID:Torella 2023:37418012}" "grandson" "M" "" "Italy" "" "0" "" "" "" "Fam1PatIV8" "00475147" "" "" "" "1" "" "00006" "{PMID:Torella 2023:37418012}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "Fam2PatII1" "00475161" "" "" "" "1" "" "00006" "{PMID:Mol 2021:34169147}" "3-generation family, 8 affected" "" "no" "Netherlands" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 55 "{{individualid}}" "{{diseaseid}}" "00248398" "00198" "00325365" "00198" "00472942" "04255" "00475095" "04255" "00475096" "04255" "00475097" "04255" "00475098" "04255" "00475099" "04255" "00475100" "04255" "00475101" "04255" "00475102" "04255" "00475103" "00244" "00475104" "00244" "00475105" "05356" "00475106" "05356" "00475107" "05356" "00475108" "05356" "00475109" "05356" "00475110" "05356" "00475111" "05356" "00475112" "05356" "00475113" "05356" "00475114" "05356" "00475115" "05356" "00475116" "05356" "00475117" "05370" "00475118" "05370" "00475119" "05370" "00475120" "05370" "00475121" "05370" "00475122" "05370" "00475123" "05370" "00475124" "05370" "00475125" "05370" "00475126" "05370" "00475127" "05370" "00475128" "05370" "00475129" "05370" "00475130" "05370" "00475131" "05370" "00475134" "05370" "00475135" "05370" "00475136" "05356" "00475137" "05356" "00475138" "05356" "00475139" "05356" "00475140" "05356" "00475141" "05356" "00475142" "05356" "00475143" "05356" "00475144" "05356" "00475145" "05356" "00475146" "05356" "00475147" "05356" "00475161" "00096" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00096, 00198, 00244, 04255, 05049, 05356, 05370, 07251, 07252, 07253 ## Count = 55 "{{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}}" "0000187392" "00198" "00248398" "01807" "Unknown" "" "HP:0007354 (Amyotrophic lateral sclerosis)" "" "" "" "" "" "" "" "" "" "" "" "0000243851" "00198" "00325365" "01807" "Unknown" "" "Amyotrophic lateral sclerosis (HP:0007354)" "" "" "" "" "" "" "" "" "" "" "" "0000357737" "04255" "00472942" "00006" "Unknown" "37y" "Sporadic case, consanguineous parents, elevated CPK, facial weakness, gait abnormality, asymmetric proximal upper and lower muscle weakness, active motor neuron disease reported in EDX." "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000359809" "04255" "00475095" "00006" "Unknown" "" "see paper; ..., spinal onset, clinical phenotype UMN/LMN; ffrontotemporal dementia" "52y" "" "" "" "" "" "" "" "FTDALS9" "sporadic amyotrophic lateral sclerosis" "" "0000359810" "04255" "00475096" "00006" "Familial, autosomal dominant" "" "see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia" "48y" "" "" "" "" "" "" "" "FTDALS9" "familial amyotrophic lateral sclerosis" "" "0000359811" "04255" "00475097" "00006" "Familial, autosomal dominant" "" "see paper; ..., spinal onset, clinical phenotype UMN/LMN; ffrontotemporal dementia" "78y" "" "" "" "" "" "" "" "FTDALS9" "familial amyotrophic lateral sclerosis" "" "0000359812" "04255" "00475098" "00006" "Familial, autosomal dominant" "" "see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia" "64y" "" "" "" "" "" "" "" "FTDALS9" "familial amyotrophic lateral sclerosis" "" "0000359813" "04255" "00475099" "00006" "Familial, autosomal dominant" "" "see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia" "41y" "" "" "" "" "" "" "" "FTDALS9" "familial amyotrophic lateral sclerosis" "" "0000359814" "04255" "00475100" "00006" "Familial, autosomal dominant" "" "see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia" "71y" "" "" "" "" "" "" "" "FTDALS9" "familial amyotrophic lateral sclerosis" "" "0000359815" "04255" "00475101" "00006" "Familial, autosomal dominant" "" "see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia" "64y" "" "" "" "" "" "" "" "FTDALS9" "familial amyotrophic lateral sclerosis" "" "0000359816" "04255" "00475102" "00006" "Familial, autosomal dominant" "" "see paper; ..., spinal onset, clinical phenotype UMN/LMN; no dementia" "66y" "" "" "" "" "" "" "" "FTDALS9" "familial amyotrophic lateral sclerosis" "" "0000359817" "00244" "00475103" "00006" "Isolated (sporadic)" "14y" "see paper; ..., delayed motor development milestones, 14m-walk; no intellectual disability; 3y-myopathic face, high-arched palate, waddling gait, winged scapula, muscle weakness four limbs (lower extremities/proximal muscle more severely affected), no ophthalmoplegia, no ptosis, decreased tendon reflexes; elevated serum creatine kinase (491 U/L)" "" "" "" "" "" "" "" "" "CMYO26" "congenital myopathy" "" "0000359818" "00244" "00475104" "00006" "Isolated (sporadic)" "6y" "see paper; ..., birth motor retardation; 2y-walk; 3y-mild ptosis, ophthalmoparesis, high-arched palate, muscle weakness both proximal/distal all limbs, decreased tendon reflexes, walk with waddling gai, could not squat; elevated serum creatine kinase (644 U/L)" "" "" "" "" "" "" "" "" "CMYO26" "congenital myopathy" "" "0000359819" "05356" "00475105" "00006" "Isolated (sporadic)" "36y" "see paper; ..., no developmental delay; ataxia; dysarthria; saccadic pursuit; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy; EMG myopathic signs; MRI brain cerebellar atrophy; increased CPK level; disease progression moderate" "24y" "" "ataxia" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359820" "05356" "00475106" "00006" "Isolated (sporadic)" "47y" "see paper; ..., learning disability; ataxia; dysarthria; nystagmus; upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy; EMG normal; MRI brain cerebellar atrophy; disease progression moderate" "22y" "" "spastic ataxia" "" "" "" "" "" "SPAX11" "spastic ataxia" "" "0000359821" "05356" "00475107" "00006" "Isolated (sporadic)" "20y" "see paper; ..., learning disability; ataxia; dysarthria; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; no bladder dysfunction; no amyotrophy; EMG upper limb elongated motor potential; MRI brain cerebellar atrophy; scoliosis; disease progression slow" "2y" "" "ataxia" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359822" "05356" "00475108" "00006" "Isolated (sporadic)" "32y" "see paper; ..., no developmental delay; ataxia; dysarthria; eye movements; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; no bladder dysfunction; no amyotrophy; EMG normal; MRI brain cerebellar atrophy; disease progression slow" "5y" "" "ataxia" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359823" "05356" "00475109" "00006" "Isolated (sporadic)" "32y" "see paper; ..., no developmental delay; ataxia; mild dysarthria; nystagmus; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; no ankle clonus; no cognitive decline; bladder dysfunction; no amyotrophy; EMG elongated motor potential; MRI brain normal; disease progression slow" "10y" "" "spastic ataxia" "" "" "" "" "" "SPAX11" "spastic ataxia" "" "0000359824" "05356" "00475110" "00006" "Unknown" "36y" "see paper; ..., no developmental delay; ataxia; no dysarthria; nystagmus; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy" "17y" "" "ataxia" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359825" "05356" "00475111" "00006" "Unknown" "60y" "see paper; ..., no developmental delay; no ataxia; no eye movements; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; bladder dysfunction; no amyotrophy; EMG perturbed; MRI brain normal; cirrhosis; disease progression moderate" "46y" "" "spastic gait" "" "" "" "" "" "SPAX11" "spastic gait" "" "0000359826" "05356" "00475112" "00006" "Unknown" "51y" "see paper; ..., no developmental delay; no ataxia; no eye movements; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; bladder dysfunction; no amyotrophy; EMG perturbed; MRI brain vascular insult; cirrhosis; disease progression fast" "45y" "" "spastic gait" "" "" "" "" "" "SPAX11" "spastic gait" "" "0000359827" "05356" "00475113" "00006" "Familial, autosomal dominant" "42y" "see paper; ..., no developmental delay; ataxia; no dysarthria; no eye movements; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy; MRI brain cerebellar atrophy; hepatic cyst" "20y" "" "ataxia" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359828" "05356" "00475114" "00006" "Unknown" "65y" "see paper; ..., no developmental delay; ataxia; dysarthria; no eye movements; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; cerebellar cognitive and affective syndrome; no bladder dysfunction; no amyotrophy; MRI brain cerebellar atrophy; disease progression slow" "60y" "" "ataxia" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359829" "05356" "00475115" "00006" "Unknown" "20y" "see paper; ..., no developmental delay; ataxia; dysarthria; nystagmus; no upper limb weakness; no lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; no cognitive decline; bladder dysfunction; no amyotrophy; EMG normal; MRI brain cerebellar atrophy; disease progression slow" "10y" "" "ataxia" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359830" "05356" "00475116" "00006" "Unknown" "62y" "see paper; ..., no developmental delay; ataxia; no eye movements; upper limb weakness; lower limb weakness; spasticity; no extensor planter reflex; increased deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; amyotrophy; MRI brain normal; disease progression slow" "54y" "" "spastic ataxia" "" "" "" "" "" "SPAX11" "spastic ataxia" "" "0000359831" "05370" "00475117" "00006" "Isolated (sporadic)" "32y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359832" "05370" "00475118" "00006" "Isolated (sporadic)" "29y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359833" "05370" "00475119" "00006" "Isolated (sporadic)" "38y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359834" "05370" "00475120" "00006" "Unknown" "31y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359835" "05370" "00475121" "00006" "Unknown" "" "see paper; ..., oocyte maturation arrest" "" "" "" "" "" "" "" "" "OZEMA23" "oocyte maturation arrest" "" "0000359836" "05370" "00475122" "00006" "Unknown" "27y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359837" "05370" "00475123" "00006" "Unknown" "34y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359838" "05370" "00475124" "00006" "Unknown" "29y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359839" "05370" "00475125" "00006" "Unknown" "32y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359840" "05370" "00475126" "00006" "Unknown" "30y" "see paper; ..., oocyte maturation arrest" "" "" "" "" "" "" "" "" "OZEMA23" "oocyte maturation arrest" "" "0000359841" "05370" "00475127" "00006" "Unknown" "35y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359842" "05370" "00475128" "00006" "Unknown" "32y" "see paper; ..., embryonic arrest" "" "" "" "" "" "" "" "" "OZEMA23" "embryonic arrest" "" "0000359843" "05370" "00475129" "00006" "Isolated (sporadic)" "26y" "see paper; ..., oocyte maturation arrest" "" "" "" "" "" "" "" "" "OZEMA23" "oocyte maturation arrest" "" "0000359844" "05370" "00475130" "00006" "Unknown" "36y" "see paper; ..., oocyte maturation arrest" "" "" "" "" "" "" "" "" "OZEMA23" "oocyte maturation arrest" "" "0000359845" "05370" "00475131" "00006" "Unknown" "35y" "see paper; ..., oocyte maturation arrest" "" "" "" "" "" "" "" "" "OZEMA23" "oocyte maturation arrest" "" "0000359848" "05370" "00475134" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., recurrent preimplantation embryo developmental arrest" "" "" "" "" "" "" "" "" "OZEMA23" "recurrent preimplantation embryo developmental arrest" "" "0000359849" "05370" "00475135" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., recurrent preimplantation embryo developmental arrest" "" "" "" "" "" "" "" "" "OZEMA23" "recurrent preimplantation embryo developmental arrest" "" "0000359850" "05356" "00475136" "00006" "Familial, autosomal dominant" "60y" "see paper; ..., lost ambulation; gait disturbance; nystagmus; broken smooth pursuit; slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; bladder disturbances; no intellectual disability; normal behavior; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials" "26y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359851" "05356" "00475137" "00006" "Familial, autosomal dominant" "42y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; decreased vibration; bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy; motor evoked potentials; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials" "30y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359852" "05356" "00475138" "00006" "Familial, autosomal dominant" "54y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy; motor evoked potentials; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials" "26y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359853" "05356" "00475139" "00006" "Familial, autosomal dominant" "46y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy; motor evoked potentials; somatosensory evoked potentials; no brainstem evoked potentials; no visual evoked potentials" "28y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359854" "05356" "00475140" "00006" "Familial, autosomal dominant" "28y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior; MRI cerebellar atrophy" "22y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359855" "05356" "00475141" "00006" "Familial, autosomal dominant" "22y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; no dysarthria; no dysmetria; no dysphagia; brisk knee jerks; no ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior; MRI no cerebellar atrophy" "15y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359856" "05356" "00475142" "00006" "Familial, autosomal dominant" "32y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; no dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior; motor evoked potentials; somatosensory evoked potentials" "11y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359857" "05356" "00475143" "00006" "Familial, autosomal dominant" "29y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; no dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; bladder disturbances; no intellectual disability; normal behavior; motor evoked potentials; somatosensory evoked potentials" "12y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359858" "05356" "00475144" "00006" "Familial, autosomal dominant" "25y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; dysmetria; no dysphagia; brisk knee jerks; no ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; decreased vibration; no bladder disturbances; no intellectual disability; normal behavior" "25y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359859" "05356" "00475145" "00006" "Familial, autosomal dominant" "24y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; no dysmetria; no dysphagia; brisk knee jerks; ankle clonus; increased upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior" "24y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359860" "05356" "00475146" "00006" "Familial, autosomal dominant" "19y" "see paper; ..., still ambulant, uses walking aids; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; no dysarthria; no dysmetria; no dysphagia; brisk knee jerks; ankle clonus; normal upper limb tonus; increased lower limb tonus; no lower limb weakness; Babinski signs; no fasciculations, no cramps; no decreased vibration; no bladder disturbances; no intellectual disability; normal behavior" "19y" "" "" "" "" "" "" "" "SPAX11" "ataxia" "" "0000359861" "05356" "00475147" "00006" "Isolated (sporadic)" "45y" "see paper; ..., 30y-lost ambulation, used walking aids; delayed motor development; gait disturbance; nystagmus; broken smooth pursuit; no slow saccades; dysarthria; brisk knee jerks; no ankle clonus; normal upper limb tonus; increased lower limb tonus; lower limb weakness; Babinski signs; no fasciculations, no cramps; decreased vibration; no bladder disturbances; dysexecutive syndrome; normal behavior; MRI cerebellar atrophy; motor evoked potentials" "" "" "" "" "" "" "" "" "SPAX11" "delayed motor development" "" "0000359875" "00096" "00475161" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "FTDALS9" "frontotemporal dementia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000249502" "00248398" "1" "01807" "01807" "2019-07-23 17:05:18" "" "" "SEQ" "DNA" "" "" "0000326575" "00325365" "1" "01807" "01807" "2020-12-30 13:01:01" "" "" "SEQ" "DNA" "" "" "0000474611" "00472942" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476778" "00475095" "1" "00006" "00006" "2026-04-01 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476779" "00475096" "1" "00006" "00006" "2026-04-01 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476780" "00475097" "1" "00006" "00006" "2026-04-01 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476781" "00475098" "1" "00006" "00006" "2026-04-01 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476782" "00475099" "1" "00006" "00006" "2026-04-01 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476783" "00475100" "1" "00006" "00006" "2026-04-01 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476784" "00475101" "1" "00006" "00006" "2026-04-01 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476785" "00475102" "1" "00006" "00006" "2026-04-01 11:36:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476786" "00475103" "1" "00006" "00006" "2026-04-01 11:54:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476787" "00475104" "1" "00006" "00006" "2026-04-01 11:54:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476788" "00475105" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476789" "00475106" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476790" "00475107" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476791" "00475108" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476792" "00475109" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476793" "00475110" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476794" "00475111" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476795" "00475112" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476796" "00475113" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476797" "00475114" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476798" "00475115" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476799" "00475116" "1" "00006" "00006" "2026-04-02 10:00:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476800" "00475117" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000476801" "00475118" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000476802" "00475119" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" "0000476803" "00475120" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476804" "00475121" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476805" "00475122" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476806" "00475123" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476807" "00475124" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476808" "00475125" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476809" "00475126" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476810" "00475127" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476811" "00475128" "1" "00006" "00006" "2026-04-02 13:11:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476812" "00475129" "1" "00006" "00006" "2026-04-02 13:33:53" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000476813" "00475130" "1" "00006" "00006" "2026-04-02 13:33:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476814" "00475131" "1" "00006" "00006" "2026-04-02 13:33:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476817" "00475134" "1" "00006" "00006" "2026-04-02 13:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476818" "00475135" "1" "00006" "00006" "2026-04-02 13:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476819" "00475136" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476820" "00475137" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476821" "00475138" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476822" "00475139" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476823" "00475140" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476824" "00475141" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476825" "00475142" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476826" "00475143" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476827" "00475144" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476828" "00475145" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476829" "00475146" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476830" "00475147" "1" "00006" "00006" "2026-04-02 14:28:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476844" "00475161" "1" "00006" "00006" "2026-04-02 19:45:01" "" "" "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 = 64 "{{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}}" "0000311030" "0" "30" "2" "220115512" "220115512" "subst" "0.00450728" "02330" "TUBA4A_000001" "g.220115512T>C" "" "" "" "TUBA4A(NM_001278552.2):c.864A>G (p.V288=), TUBA4A(NM_006000.3):c.909A>G (p.V303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219250790T>C" "" "likely benign" "" "0000514702" "0" "90" "2" "220115274" "220115274" "subst" "8.12176E-6" "01804" "TUBA4A_000006" "g.220115274C>T" "" "" "" "TUBA4A(NM_001278552.1):c.1102G>A (p.(Ala368Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219250552C>T" "" "pathogenic" "" "0000578285" "0" "70" "2" "220116732" "220116732" "del" "0" "01807" "TUBA4A_000001" "g.220116732del" "" "" "" "225delT" "" "Unknown" "" "" "0" "" "" "g.219252010del" "" "likely pathogenic" "" "0000676521" "0" "30" "2" "220115572" "220115572" "subst" "5.27872E-5" "01943" "TUBA4A_000007" "g.220115572G>A" "" "" "" "TUBA4A(NM_001278552.1):c.804C>T (p.H268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000709994" "0" "70" "2" "220115366" "220115370" "dup" "0" "01807" "TUBA4A_000002" "g.220115366_220115370dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.219250644_219250648dup" "" "likely pathogenic" "" "0000718508" "0" "50" "2" "220116349" "220116349" "subst" "0" "01943" "TUBA4A_000008" "g.220116349G>A" "" "" "" "TUBA4A(NM_001278552.1):c.268C>T (p.R90C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849738" "0" "10" "2" "220115512" "220115512" "subst" "0.00450728" "02326" "TUBA4A_000001" "g.220115512T>C" "" "" "" "TUBA4A(NM_001278552.2):c.864A>G (p.V288=), TUBA4A(NM_006000.3):c.909A>G (p.V303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000884908" "0" "30" "2" "220115164" "220115164" "subst" "2.43661E-5" "02326" "TUBA4A_000009" "g.220115164G>A" "" "" "" "TUBA4A(NM_006000.3):c.1257C>T (p.S419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923625" "0" "50" "2" "220115699" "220115699" "subst" "0" "02327" "TUBA4A_000010" "g.220115699G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001070093" "0" "50" "2" "220115867" "220115867" "subst" "0" "00006" "TUBA4A_000003" "g.220115867T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3mod" "Germline" "" "" "0" "" "" "g.219251145T>C" "SCV006075347.1" "VUS" "ACMG" "0001071190" "0" "50" "2" "220115955" "220115955" "subst" "0" "03779" "TUBA4A_000005" "g.220115955G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001071191" "0" "50" "2" "220115642" "220115642" "subst" "0" "03779" "TUBA4A_000004" "g.220115642A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001071764" "0" "70" "2" "220116828" "220116828" "subst" "2.03032E-5" "00006" "TUBA4A_000038" "g.220116828C>A" "1/13063 controls" "{PMID:Smith 2014:25374358}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219252106C>A" "" "likely pathogenic (!)" "" "0001071765" "11" "70" "2" "220115988" "220115988" "subst" "0" "00006" "TUBA4A_000035" "g.220115988T>G" "not found in 13063 controls" "{PMID:Smith 2014:25374358}" "" "" "" "Germline" "" "" "0" "" "" "g.219251266T>G" "" "likely pathogenic (!)" "" "0001071766" "21" "70" "2" "220115778" "220115778" "subst" "8.1211E-6" "00006" "TUBA4A_000032" "g.220115778G>A" "not found in 13063 controls" "{PMID:Smith 2014:25374358}" "" "" "" "Germline" "" "" "0" "" "" "g.219251056G>A" "" "likely pathogenic (!)" "" "0001071767" "0" "70" "2" "220115463" "220115463" "subst" "8.12123E-6" "00006" "TUBA4A_000020" "g.220115463G>A" "not found in 13063 controls" "{PMID:Smith 2014:25374358}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250741G>A" "" "likely pathogenic (!)" "" "0001071768" "20" "70" "2" "220115462" "220115462" "subst" "0" "00006" "TUBA4A_000019" "g.220115462C>T" "not found in 13063 controls" "{PMID:Smith 2014:25374358}" "" "" "" "Germline" "" "" "0" "" "" "g.219250740C>T" "" "likely pathogenic (!)" "" "0001071769" "21" "70" "2" "220115274" "220115274" "subst" "8.12176E-6" "00006" "TUBA4A_000006" "g.220115274C>T" "1/13063 controls" "{PMID:Smith 2014:25374358}" "" "" "" "Germline" "" "" "0" "" "" "g.219250552C>T" "" "likely pathogenic (!)" "" "0001071770" "20" "70" "2" "220115131" "220115131" "subst" "0" "00006" "TUBA4A_000012" "g.220115131C>G" "not found in 13063 controls" "{PMID:Smith 2014:25374358}" "" "" "" "Germline" "" "" "0" "" "" "g.219250409C>G" "" "likely pathogenic (!)" "" "0001071771" "11" "70" "2" "220115200" "220115200" "subst" "0" "00006" "TUBA4A_000015" "g.220115200C>T" "not found in 13063 controls" "{PMID:Smith 2014:25374358}" "" "" "" "Germline" "" "" "0" "" "" "g.219250478C>T" "" "likely pathogenic (!)" "" "0001071772" "0" "70" "2" "220115742" "220115742" "subst" "0" "00006" "TUBA4A_000030" "g.220115742G>A" "" "{PMID:Wan 2024:38413182}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.219251020G>A" "" "likely pathogenic (dominant)" "ACMG" "0001071773" "0" "70" "2" "220115742" "220115742" "subst" "0" "00006" "TUBA4A_000030" "g.220115742G>A" "" "{PMID:Wan 2024:38413182}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.219251020G>A" "" "likely pathogenic (dominant)" "ACMG" "0001071787" "0" "70" "2" "220115904" "220115904" "subst" "0" "00006" "TUBA4A_000034" "g.220115904G>A" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "De novo" "" "" "0" "" "" "g.219251182G>A" "" "likely pathogenic (dominant)" "" "0001071788" "0" "70" "2" "220115903" "220115903" "subst" "0" "00006" "TUBA4A_000033" "g.220115903G>C" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "De novo" "" "" "0" "" "" "g.219251181G>C" "" "likely pathogenic (dominant)" "" "0001071789" "0" "70" "2" "220115903" "220115903" "subst" "0" "00006" "TUBA4A_000033" "g.220115903G>C" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "De novo" "" "" "0" "" "" "g.219251181G>C" "" "likely pathogenic (dominant)" "" "0001071790" "0" "70" "2" "220115474" "220115474" "subst" "0" "00006" "TUBA4A_000021" "g.220115474C>T" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "De novo" "" "" "0" "" "" "g.219250752C>T" "" "likely pathogenic (dominant)" "" "0001071791" "0" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "De novo" "" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071792" "0" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071793" "0" "70" "2" "220116873" "220116873" "subst" "0" "00006" "TUBA4A_000040" "g.220116873T>C" "" "{PMID:Benkirane 2024:38884572}" "" "" "variant not maternal" "Germline/De novo (untested)" "" "" "0" "" "" "g.219252151T>C" "" "likely pathogenic (dominant)" "" "0001071794" "0" "70" "2" "220116873" "220116873" "subst" "0" "00006" "TUBA4A_000040" "g.220116873T>C" "" "{PMID:Benkirane 2024:38884572}" "" "" "variant not maternal" "Germline/De novo (untested)" "" "" "0" "" "" "g.219252151T>C" "" "likely pathogenic (dominant)" "" "0001071795" "21" "70" "2" "220116858" "220116858" "subst" "0" "00006" "TUBA4A_000039" "g.220116858T>A" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "Germline" "" "" "0" "" "" "g.219252136T>A" "" "likely pathogenic (dominant)" "" "0001071796" "0" "70" "2" "220116349" "220116349" "subst" "0" "00006" "TUBA4A_000008" "g.220116349G>A" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219251627G>A" "" "likely pathogenic (dominant)" "" "0001071797" "0" "70" "2" "220115646" "220115646" "subst" "0" "00006" "TUBA4A_000028" "g.220115646G>C" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250924G>C" "" "likely pathogenic (dominant)" "" "0001071798" "0" "70" "2" "220115154" "220115154" "subst" "0" "00006" "TUBA4A_000013" "g.220115154C>T" "" "{PMID:Benkirane 2024:38884572}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250432C>T" "" "likely pathogenic (dominant)" "" "0001071823" "0" "90" "2" "220116433" "220116433" "subst" "0" "00006" "TUBA4A_000037" "g.220116433C>T" "" "{PMID:Li 2023:37024973}" "" "G229A" "ACMG PS2, PS3, PS4, PM2" "De novo" "" "" "0" "" "" "g.219251711C>T" "" "pathogenic (dominant)" "ACMG" "0001071824" "0" "90" "2" "220115564" "220115564" "subst" "0" "00006" "TUBA4A_000024" "g.220115564A>G" "" "{PMID:Li 2023:37024973}" "" "T857C" "ACMG PS2, PS3, PS4, PM2" "De novo" "" "" "0" "" "" "g.219250842A>G" "" "pathogenic (dominant)" "ACMG" "0001071825" "0" "90" "2" "220115381" "220115381" "subst" "0" "00006" "TUBA4A_000017" "g.220115381C>T" "" "{PMID:Li 2023:37024973}" "" "G1040A" "ACMG PS2, PS3, PS4, PM2" "De novo" "" "" "0" "" "" "g.219250659C>T" "" "pathogenic (dominant)" "ACMG" "0001071826" "0" "90" "2" "220116040" "220116040" "subst" "4.19291E-6" "00006" "TUBA4A_000036" "g.220116040G>C" "" "{PMID:Li 2023:37024973}" "" "C381G" "ACMG PS3, PS4, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.219251318G>C" "" "pathogenic (dominant)" "ACMG" "0001071827" "0" "90" "2" "220115777" "220115777" "subst" "4.06058E-6" "00006" "TUBA4A_000031" "g.220115777C>T" "" "{PMID:Li 2023:37024973}" "" "G644A" "ACMG PS3, PS4, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.219251055C>T" "" "pathogenic (dominant)" "ACMG" "0001071828" "0" "90" "2" "220115736" "220115736" "subst" "0" "00006" "TUBA4A_000029" "g.220115736G>A" "" "{PMID:Li 2023:37024973}" "" "C685T" "ACMG PS3, PS4, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.219251014G>A" "" "pathogenic (dominant)" "ACMG" "0001071829" "0" "90" "2" "220115736" "220115736" "subst" "0" "00006" "TUBA4A_000029" "g.220115736G>A" "" "{PMID:Li 2023:37024973}" "" "C685T" "ACMG PS3, PS4, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.219251014G>A" "" "pathogenic (dominant)" "ACMG" "0001071830" "0" "70" "2" "220115603" "220115603" "subst" "0" "00006" "TUBA4A_000027" "g.220115603G>A" "" "{PMID:Li 2023:37024973}" "" "C818T" "ACMG PS4, PM2, BS3" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250881G>A" "" "likely pathogenic (dominant)" "ACMG" "0001071831" "0" "90" "2" "220115571" "220115571" "subst" "0" "00006" "TUBA4A_000026" "g.220115571C>T" "" "{PMID:Li 2023:37024973}" "" "G850A" "ACMG PS4, PS3, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250849C>T" "" "pathogenic (dominant)" "ACMG" "0001071832" "0" "90" "2" "220115514" "220115514" "subst" "0" "00006" "TUBA4A_000023" "g.220115514C>G" "" "{PMID:Li 2023:37024973}" "" "G907C" "ACMG PS4, PS3, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250792C>G" "" "pathogenic (dominant)" "ACMG" "0001071833" "0" "90" "2" "220115480" "220115480" "subst" "0" "00006" "TUBA4A_000022" "g.220115480G>A" "" "{PMID:Li 2023:37024973}" "" "C941T" "ACMG PS4, PS3, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250758G>A" "" "pathogenic (dominant)" "ACMG" "0001071834" "0" "90" "2" "220115303" "220115303" "subst" "4.06085E-6" "00006" "TUBA4A_000016" "g.220115303C>T" "" "{PMID:Li 2023:37024973}" "" "G1118A" "ACMG PS4, PS3, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250581C>T" "" "pathogenic (dominant)" "ACMG" "0001071839" "0" "90" "2" "220115571" "220115571" "subst" "0" "00006" "TUBA4A_000026" "g.220115571C>T" "" "{PMID:Li 2023:39872894}" "" "" "" "De novo" "" "" "0" "" "" "g.219250849C>T" "" "pathogenic (dominant)" "" "0001071840" "0" "90" "2" "220115570" "220115570" "subst" "0" "00006" "TUBA4A_000025" "g.220115570T>C" "" "{PMID:Li 2023:39872894}" "" "851G>A (E284G)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250848T>C" "" "pathogenic (dominant)" "" "0001071841" "0" "90" "2" "220115571" "220115571" "subst" "0" "00006" "TUBA4A_000026" "g.220115571C>T" "" "{PMID:Li 2023:39872894}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250849C>T" "" "pathogenic (dominant)" "" "0001071847" "0" "70" "2" "220115406" "220115406" "subst" "4.06062E-6" "00006" "TUBA4A_000018" "g.220115406G>A" "" "{PMID:Hu 2024:39209701}" "" "" "" "Germline" "" "" "0" "" "" "g.219250684G>A" "" "likely pathogenic (recessive)" "" "0001071848" "0" "70" "2" "220115102" "220115103" "del" "0" "00006" "TUBA4A_000011" "g.220115102_220115103del" "" "{PMID:Hu 2024:39209701}" "" "" "" "Germline" "" "" "0" "" "" "g.219250380_219250381del" "" "likely pathogenic (recessive)" "" "0001071849" "0" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071850" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071851" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071852" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071853" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071854" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071855" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071856" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071857" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071858" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071859" "21" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071860" "0" "70" "2" "220115178" "220115178" "subst" "0" "00006" "TUBA4A_000014" "g.220115178C>T" "" "{PMID:Torella 2023:37418012}" "" "" "" "De novo" "" "" "0" "" "" "g.219250456C>T" "" "likely pathogenic (dominant)" "" "0001071891" "1" "90" "2" "220116349" "220116349" "subst" "0" "00006" "TUBA4A_000008" "g.220116349G>A" "" "{PMID:Mol 2021:34169147}" "" "" "" "Germline" "" "" "0" "" "" "g.219251627G>A" "" "pathogenic (dominant)" "" ## 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 TUBA4A ## Count = 64 "{{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}}" "0000311030" "00022124" "30" "909" "0" "909" "0" "c.909A>G" "r.(?)" "p.(Val303=)" "" "0000514702" "00022124" "90" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "" "0000578285" "00022124" "70" "225" "0" "225" "0" "c.225del" "r.(?)" "p.(Ile75fs)" "" "0000676521" "00022124" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(His283=)" "" "0000709994" "00022124" "70" "1051" "0" "1055" "0" "c.1051_1055dup" "r.(?)" "p.(Lys352AsnfsTer29)" "" "0000718508" "00022124" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Cys)" "" "0000849738" "00022124" "10" "909" "0" "909" "0" "c.909A>G" "r.(?)" "p.(Val303=)" "" "0000884908" "00022124" "30" "1257" "0" "1257" "0" "c.1257C>T" "r.(?)" "p.(Ser419=)" "" "0000923625" "00022124" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ser241Phe)" "" "0001070093" "00022124" "50" "554" "0" "554" "0" "c.554A>G" "r.(?)" "p.(Tyr185Cys)" "" "0001071190" "00022124" "50" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0001071191" "00022124" "50" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Val260Gly)" "" "0001071764" "00022124" "70" "128" "0" "128" "0" "c.128G>T" "r.(?)" "p.(Gly43Val)" "2" "0001071765" "00022124" "70" "433" "0" "433" "0" "c.433A>C" "r.(?)" "p.(Thr145Pro)" "4" "0001071766" "00022124" "70" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Cys)" "4" "0001071767" "00022124" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "4" "0001071768" "00022124" "70" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320His)" "4" "0001071769" "00022124" "70" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "4" "0001071770" "00022124" "70" "1290" "0" "1290" "0" "c.1290G>C" "r.(?)" "p.(Lys430Asn)" "4" "0001071771" "00022124" "70" "1221" "0" "1221" "0" "c.1221G>A" "r.(?)" "p.(Trp407Ter)" "4" "0001071772" "00022124" "70" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Leu227Phe)" "" "0001071773" "00022124" "70" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Leu227Phe)" "" "0001071787" "00022124" "70" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Pro173Ser)" "" "0001071788" "00022124" "70" "518" "0" "518" "0" "c.518C>G" "r.(?)" "p.(Pro173Arg)" "" "0001071789" "00022124" "70" "518" "0" "518" "0" "c.518C>G" "r.(?)" "p.(Pro173Arg)" "" "0001071790" "00022124" "70" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Cys316Tyr)" "" "0001071791" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071792" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071793" "00022124" "70" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(His28Arg)" "" "0001071794" "00022124" "70" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(His28Arg)" "" "0001071795" "00022124" "70" "98" "0" "98" "0" "c.98A>T" "r.(?)" "p.(Asp33Val)" "" "0001071796" "00022124" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Cys)" "" "0001071797" "00022124" "70" "775" "0" "775" "0" "c.775C>G" "r.(?)" "p.(Leu259Val)" "" "0001071798" "00022124" "70" "1267" "0" "1267" "0" "c.1267G>A" "r.(?)" "p.(Glu423Lys)" "" "0001071823" "00022124" "90" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Glu77Lys)" "" "0001071824" "00022124" "90" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Leu286Pro)" "" "0001071825" "00022124" "90" "1040" "0" "1040" "0" "c.1040G>A" "r.1040G>A" "p.Cys347Tyr" "" "0001071826" "00022124" "90" "381" "0" "381" "0" "c.381C>G" "r.(?)" "p.(Asp127Glu)" "" "0001071827" "00022124" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Arg215His)" "" "0001071828" "00022124" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Cys)" "" "0001071829" "00022124" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Cys)" "" "0001071830" "00022124" "70" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Ala273Val)" "" "0001071831" "00022124" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Glu284Lys)" "" "0001071832" "00022124" "90" "907" "0" "907" "0" "c.907G>C" "r.(?)" "p.(Val303Leu)" "" "0001071833" "00022124" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ala314Val)" "" "0001071834" "00022124" "90" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Arg373His)" "" "0001071839" "00022124" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Glu284Lys)" "" "0001071840" "00022124" "90" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Glu284Gly)" "" "0001071841" "00022124" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Glu284Lys)" "" "0001071847" "00022124" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Cys)" "" "0001071848" "00022124" "70" "1319" "0" "1320" "0" "c.1319_1320del" "r.(?)" "p.(Tyr440Ter)" "" "0001071849" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071850" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071851" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071852" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071853" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071854" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071855" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071856" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071857" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071858" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071859" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071860" "00022124" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "0001071891" "00022124" "90" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000249502" "0000578285" "0000326575" "0000709994" "0000474611" "0001070093" "0000476778" "0001071764" "0000476779" "0001071765" "0000476780" "0001071766" "0000476781" "0001071767" "0000476782" "0001071768" "0000476783" "0001071769" "0000476784" "0001071770" "0000476785" "0001071771" "0000476786" "0001071772" "0000476787" "0001071773" "0000476788" "0001071787" "0000476789" "0001071788" "0000476790" "0001071789" "0000476791" "0001071790" "0000476792" "0001071791" "0000476793" "0001071792" "0000476794" "0001071793" "0000476795" "0001071794" "0000476796" "0001071795" "0000476797" "0001071796" "0000476798" "0001071797" "0000476799" "0001071798" "0000476800" "0001071823" "0000476801" "0001071824" "0000476802" "0001071825" "0000476803" "0001071826" "0000476804" "0001071827" "0000476805" "0001071828" "0000476806" "0001071829" "0000476807" "0001071830" "0000476808" "0001071831" "0000476809" "0001071832" "0000476810" "0001071833" "0000476811" "0001071834" "0000476812" "0001071839" "0000476813" "0001071840" "0000476814" "0001071841" "0000476817" "0001071847" "0000476818" "0001071848" "0000476819" "0001071849" "0000476820" "0001071850" "0000476821" "0001071851" "0000476822" "0001071852" "0000476823" "0001071853" "0000476824" "0001071854" "0000476825" "0001071855" "0000476826" "0001071856" "0000476827" "0001071857" "0000476828" "0001071858" "0000476829" "0001071859" "0000476830" "0001071860" "0000476844" "0001071891"