### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SOX5)
# 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}}"
"SOX5"	"SRY (sex determining region Y)-box 5"	"12"	"p12.1"	"unknown"	"NG_029612.2"	"UD_134408558622"	""	"https://www.LOVD.nl/SOX5"	""	"1"	"11201"	"6660"	"604975"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/SOX5_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2011-11-15 00:00:00"	"00006"	"2017-03-05 20:09:37"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00024238"	"SOX5"	"transcript variant 2"	"002"	"NM_152989.3"	""	"NP_694534.1"	""	""	""	"-374"	"4175"	"2253"	"24715383"	"23685231"	"00006"	"2017-03-05 20:07:06"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04282"	"CVI"	"cerebral visual impairment (CVI)"	""	""	""	""	""	"00006"	"2015-06-15 15:37:52"	"00006"	"2015-06-15 15:38:26"
"05304"	"LAMSHF"	"Lamb-Shaffer syndrome (LAMSHF)"	"AD"	"616803"	""	"neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, mild dysmorphic facial features and variable skeletal abnormalities"	""	"00006"	"2017-07-14 14:26:25"	"00006"	"2021-12-10 21:51:32"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SOX5"	"05304"


## Individuals ## Do not remove or alter this header ##
## Count = 32
"{{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}}"
"00039404"	""	""	""	"1"	""	"01158"	"{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00117535"	""	""	""	"1"	""	"02064"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat15"
"00117536"	""	""	""	"1"	""	"02064"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"Pat8"
"00117537"	""	""	""	"1"	""	"02064"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat7"
"00117538"	""	""	""	"1"	""	"02064"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat4"
"00117539"	""	""	""	"1"	""	"02064"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat3"
"00117540"	""	""	""	"1"	""	"02064"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat2"
"00180150"	""	""	""	"1"	""	"00006"	"{PMID:Tumienė 2018:29286531}"	""	""	""	"(Slovenia)"	""	"0"	""	""	""	"29286531-Pat02"
"00377151"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"181007"
"00386541"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"187022"
"00434861"	""	""	""	"1"	""	"00006"	"{PMID:Gostain 2020:32960281}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"CMC32"
"00444319"	""	""	""	"1"	""	"00006"	"{PMID:Moon 2021:35052368}"	""	""	""	"Korea"	""	"0"	""	""	""	"Pat90"
"00447892"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"282585"
"00447894"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat5"
"00447895"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00447896"	""	""	""	"2"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 2 affected and carrier mother"	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00447897"	""	""	"00447896"	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"sister"	"F"	""	""	""	"0"	""	""	""	"sister"
"00447898"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected carrier father/grandmother"	"F"	""	""	""	"0"	""	""	""	"Pat9"
"00447899"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat10"
"00447900"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat11"
"00447901"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat12"
"00447902"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"Pat13"
"00447903"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat14"
"00447904"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"2-generation family, 1 affected, carrier father"	"F"	""	""	""	"0"	""	""	""	"Pat16"
"00447905"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"patient"	""	""	""	""	"0"	""	""	""	""
"00447906"	""	""	""	"1"	""	"00006"	"{PMID:Lamb 2012:22290657}"	"patient"	""	""	""	""	"0"	""	""	""	""
"00447907"	""	""	""	"1"	""	"00006"	"{PMID:Schanze 2013:23220431}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	"no"	"Germany"	""	"0"	""	""	""	"Pat1"
"00447908"	""	""	""	"1"	""	"00006"	"{PMID:Schanze 2013:23220431}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat2"
"00447909"	""	""	""	"1"	""	"00006"	"{PMID:Schanze 2013:23220431}"	"2-generation family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat3"
"00447910"	""	""	""	"1"	""	"00006"	"{PMID:Nesbitt 2015:26111154}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"patient"
"00457833"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00459793"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"? (unknown)"	""	"0"	""	""	""	"313620"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 33
"{{individualid}}"	"{{diseaseid}}"
"00039404"	"00139"
"00039404"	"04282"
"00117535"	"00198"
"00117536"	"00198"
"00117537"	"00198"
"00117538"	"00198"
"00117539"	"00198"
"00117540"	"00198"
"00180150"	"00198"
"00377151"	"05304"
"00386541"	"05304"
"00434861"	"00198"
"00444319"	"04214"
"00447892"	"05304"
"00447894"	"05611"
"00447895"	"05611"
"00447896"	"05611"
"00447897"	"05611"
"00447898"	"05611"
"00447899"	"05611"
"00447900"	"05611"
"00447901"	"05611"
"00447902"	"05611"
"00447903"	"05611"
"00447904"	"05611"
"00447905"	"05611"
"00447906"	"05611"
"00447907"	"00139"
"00447908"	"00139"
"00447909"	"00139"
"00447910"	"00139"
"00457833"	"00139"
"00459793"	"05304"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04214, 04282, 05304, 05611
## Count = 32
"{{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}}"
"0000078837"	"04282"	"00039404"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000093005"	"00198"	"00117535"	"02064"	"Isolated (sporadic)"	"03y"	"weight 25th-50th, height 75th, OFC 10th; moderate developmental delay; 3y-first words; autistic, hyperactivity; hypotonia; no seizures; short/thick corpus callosum; myopia; strabismus; no dysmorphic features; normal hands/feet; normal back/spine; congenital torticolis; no heart defects; no genital abnormalities; feeding difficulties"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000093006"	"00198"	"00117536"	"02064"	"Unknown"	"07y09m"	"weight >97th, height 90th, OFC 50th; slight motor delays, intellectual disability (IQ 60); 4y6m-first words; attention deficit-hyperactivity disorder, behavior problems in school; slight hypotonia; no seizures; strabismus; dysmorphic features, brachycephaly, frontal bossing, displaced occipital hair whorl, short philtrum, crowded teeth, rounded lower facies; flat feet; normal back/spine; genu valgum, outturned ankles; no heart defects; no genital abnormalitiesonia; brachycephaly; frontal bossing; displaced occipital hair whorl; short philtrum; crowded teeth; rounded lower facies; flat feet; genu valgum; outturned ankles; mother with intellectual disability;"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000093007"	"00198"	"00117537"	"02064"	"Unknown"	"04y03m"	"weight 72nd, height 71st, OFC NS; motor delays, Bayley III scores (30m): composite 16th percentile, motor 12th; speech delay, Bayley III language score 6th percentile; no behavior problems; no hypotonia; no seizures; left intermittent esotropia, astigmatism; no dysmorphic features, epicanthal folds; normal hands/feet; normal back/spine; no heart defects; hypopigmentation of labia"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000093008"	"00198"	"00117538"	"02064"	"Isolated (sporadic)"	"11y"	"weight 3rd-10th, height 25th, OFC 3rd; moderate-severe intellectual disability; no speech, had 2 words at 5-6y but lost them; stereotypies (rocking, hand motions), avoids eye contact, occasional aggression; no hypotonia; no seizures; no brain malformations; strabismus; dysmorphic features, narrowed forehead, thick, hemmed ears; overlapping toes; normal back/spine; no heart defects; no genital abnormalities; thyroglossal duct cyst"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000093009"	"00198"	"00117539"	"02064"	"Isolated (sporadic)"	"15y06m"	"weight 10th, height 10th, OFC 10th; intellectual disability (IQ 45-70); 2y-first word; 4y-2 word phrases; pervasive developmental delay/atypical autism, aggressive, mood instability; hypotonia face/lower limbs; no seizures; no brain malformations; dyspraxia, awkward gait; no ophthalmologic features; dysmorphic features, small, simple ears, low nasal bridge; high arched feet; butterfly vertebrae of thoracic spine; mild scoliosis; no heart defects; no genital abnormalities; chronic constipation"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000093010"	"00198"	"00117540"	"02064"	"Isolated (sporadic)"	"03y06m"	"weight 3rd, height 10th-25th, OFC <2nd (45.4 cm); global developmental disorder, 4y-functioning at 12-24m level; severe mixed receptive/expressive language disorder; aggressive, stereotypies (rocking, hand flapping, spinning, clapping, self injury), severe hyperkinesis; no hypotonia; seizures; mild periventricular leukomalacia; poor articulation; intermittent exotropia; no dysmorphic features; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000142604"	"00198"	"00180150"	"00006"	"Familial, autosomal dominant"	""	"(Pharmacoresistant ) epilepsy (HP:0001250), infantile spasms (HP:0012469), cerebral palsy (HP:0100021), congenital microcephaly (HP:0011451), severe global developmental delay (HP:0011344). Head MRI: delayed myelination (HP:0002188), thin corpus callosum (HP:0002079), facial dysmorphism (HP:0001999)."	""	""	""	""	""	""	""	""	"LAMSHF"	"epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations"	""
"0000272315"	"05304"	"00377151"	"01164"	"Unknown"	""	"Microcephaly, Abnormality of the pinna, Macrotia, Strabismus, Abnormal conjugate eye movement, Global developmental delay, Short foot, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the feet, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay, Decreased head circumference, Small hand"	""	""	""	""	""	""	""	""	"2y"	""	""
"0000280341"	"05304"	"00386541"	"01164"	"Isolated (sporadic)"	"04y"	"EEG abnormality, Delayed speech and language development, Speech apraxia, Expressive language delay, Receptive language delay, Impaired convergence, Neurodevelopmental delay"	""	""	""	""	""	""	""	""	""	""	""
"0000325100"	"00198"	"00434861"	"00006"	"Unknown"	""	"Lamb-Shaffer syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000333572"	"04214"	"00444319"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	"optic atrophy"	""
"0000337084"	"05304"	"00447892"	"01164"	"Isolated (sporadic)"	"02y"	"Neurodevelopmental delay, Motor delay, Hypotonia, Elevated circulating creatine kinase concentration, Facial asymmetry"	""	""	""	""	""	""	""	""	""	""	""
"0000337086"	"05611"	"00447894"	"00006"	"Isolated (sporadic)"	"32y"	"weight 50th-75th, height 50th-75th, OFC 50th-75th; mild global delays, IQ testing borderline to mild intellectual disability,; low-average nonverbal intelligence; speech delay; no behavior problems; seizures; no brain malformations; articulation difficulties; myopia; dysmorphic features, crowded teeth, high/narrow palate, micrognathia; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337087"	"05611"	"00447895"	"00006"	"Isolated (sporadic)"	"2y6m"	"hemihypertrophy; weight 75th-90th, height 25th-50th, OFC 25th; developmental delay/intellectual disability; moderate-severe speech delay; pervasive developmental delay, self injury; no hypotonia; no seizures; clumsiness; left facial drooping; no ophthalmologic features; dysmorphic features, flat occiput, frontal bossing, crumpled ear lobule, broad/low nasal bridge, upturned nose with bulbous tip, accentuated, prominent philtral ridges, prominent/full lips; flat feet; scapular winging; heart murmur; shawl scrotum; cryptorchidism; hepatomegaly"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337088"	"05611"	"00447896"	"00006"	"Familial, autosomal dominant"	"4y"	"failure to thrive (resolved); weight <3rd (22m), height NS, OFC 25th (22m); moderate global developmental delay; severe speech delay; 4y-no words; no behavior problems; truncal hypotonia; no seizures; prominent subarachnoid space; blue sclerae; strabismus; no dysmorphic features, mild frontal bossing; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities; mother short stature, borderline microcephaly, moderate intellectual disability, 8y-did not speak"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337089"	"05611"	"00447897"	"00006"	"Familial, autosomal dominant"	"2y6m"	"moderate global developmental delay, 22m-walk, strabismus, nonverbal"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337090"	"05611"	"00447898"	"00006"	"Isolated (sporadic)"	"3y6m"	"weight <3rd, height <3rd, OFC 50th; early motor delays, intellectual development average to advanced; no speech delay; no behavior problems; hypotonia; no seizures; poor balance; decreased strength; amblyopia; dysmorphic features, frontal bossing, deep-set eyes, hypoplastic; normal hands/feet; lumbar scoliosis; reduced muscle bulk; atrioventricular canal; secundum atrial septal defect; coarctation of aorta, patent ductus arteriosus; no genital abnormalities; G-tube for feeding"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000337091"	"05611"	"00447899"	"00006"	"Unknown"	"6y"	"weight 10th, height 10th, OFC 3rd; moderate intellectual disability; greatest delays in expressive speech; 6y-no words and 5 signs; hyperactivity, anxiety; no hypotonia; no seizures; mild ventriculomegaly with prominent cortical sulci, suggesting volume loss; brisk deep tendon reflexes; no ophthalmologic features; dysmorphic features, metopic ridge, bitemporal grooves, short, upslanted palpebral fissures, prominent, boxy nasal tip, alar hypoplasia; mild ulnar drift of hands; bilateral thenar hypoplasia; adducted thumbs; 2 parallel thenar creases; progressive toe contractures; progressive valgus great toe deformity; normal back/spine; early metopic fusion; no heart defects; no genital abnormalities; father borderline microcpehalic, otherwise non-contributory"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337092"	"05611"	"00447900"	"00006"	"Unknown"	"4y3m"	"weight 34th (22m), height 4th (22m), OFC 29th (22m); global developmental delay, severe intellectual disability, 4y-walk; no words yet; hand twirling but social; hypotonia; no seizures; hypoplastic corpus callosum; mild cerebral volume loss; mild prominence of lateral ventricles; no ophthalmologic features; dysmorphic features, mild frontal bossing, positional plagiocephaly, epicanthal folds, small glabellar hemangioma, midface hypoplasia, short philtrum; 1-2 syndactyly on right hand; medially deviated and broad right index finger; narrow left palm; hypoplastic right thenar eminence; limited motion of fingers; right clubfoot; congenital fusion c5-c7 causing torticollis; hypermobile; lack of muscle control of right face at birth; ventricular septal defect; no genital abnormalities; alternating constipation/diarrhea; eczema; mother hiatal hernia, congenitally “pigeon-toed”; paternal family history of clubfoot, ventricular septal defect"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337093"	"05611"	"00447901"	"00006"	"Unknown"	"4m15d"	"weight 3rd-5th, height 10th-25th, OFC <3rd (38.1 cm); moderate-severe developmental delay; no hypotonia; seizures; intermittent adducted thumbs; constant tongue thrust; blue sclerae; dysmorphic features, sparse hair, low-set ears, familial darwinian tubercles, small ear lobules, soft cartilage, minimal synophrys, upslanting palpebral fissures, high/wide nasal bridge, square/tubular nose, long columella, broad nasal tip, short philtrum, broad and short uvula; arachnodactyly; hyperconvex nails; deep plantar creases; minimal clinodactyly of second and third toes; normal back/spine; hip laxity; no heart defects; anteriorly placed anus; deep sacral cleft with sacral dimple; hypoplastic and inverted nipples"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337094"	"05611"	"00447902"	"00006"	"Isolated (sporadic)"	"7y"	"weight 49th, height 53rd, OFC −1 SD; mild intellectual disability, Peabody Picture Vocabulary Test receptive score 65 (−2.3 SD); nonverbal, expressive speech disorder; attention deficit-hyperactivity disorder; hypotonia; no seizures; Chiari I malformation; speech dyspraxia; moderate-severe bilateral sensorineural hearing loss; no ophthalmologic features; dysmorphic features, mild hair upsweep, protruding and large ears, small nares and alae, downturned upper lip, straight lower lip, malpositioned teeth; single right palmar crease; prominent fingertip pads; short second toes; scoliosis/kyphosis; prominent sternum; no heart defects; no genital abnormalities; chronic diarrhea; low-set nipples"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337095"	"05611"	"00447903"	"00006"	"Isolated (sporadic)"	"9y"	"weight 25th, height 10th-25th, OFC 75th; developmental delay/intellectual disability; speech delay; compulsive, ritualistic, distractible; severe hypotonia; no seizures; strabismus; optic nerve hypoplasia; mild dysmorphic features, low facial tone, prominent nasal bridge, small alae, broad nasal tip, midline nasal dimple, narrow palate; short fingers & metacarpals; short toes; deviated second fingers; short thumbs; broad great toes; cone-shaped epiphyses on phalanges; normal back/spine; slight arrhythmia; no genital abnormalities"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337096"	"05611"	"00447904"	"00006"	"Isolated (sporadic)"	"10m"	"weight <3rd (6.72 kg), height <3rd (65 cm), OFC 3rd-5th; developmental delay/intellectual disability; no hypotonia; no seizures; no ophthalmologic features; dysmorphic features, midface hypoplasia; normal hands/feet; normal back/spine; rhizomelia; no heart defects; no genital abnormalities; gastroesophogeal reflux disease; laryngomalacia; eczema; father low weight (111 lb, 5′6″), short digits, poor dentition, Asperger-like features, recurrent fevers"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000337097"	"05611"	"00447905"	"00006"	"Unknown"	""	"developmental delay, microcephaly"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337098"	"05611"	"00447906"	"00006"	"Unknown"	""	"pituitary dwarfism, lack of coordination, pervasive developmental delay, attention deficit-hyperactivity disorder, optic nerve abnormality"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental delay"	""
"0000337099"	"00139"	"00447907"	"00006"	"Isolated (sporadic)"	"02y05m"	"see paper; ..., prenatal nuchal oedema, amniocentesis; birth 41w, height 3-10th, OFC 3-10th; moderate motor developmental delay, 21m-walk; mild intellectual disability; delayed speech, 24m-first words; no behavioural anomalies; mild hypotonia; no seizures; down-slanting palpebral fissures, epicanthal folds, broad nasal bridge, upturned nose, bulbous nasal tip, prominent philtral ridges, open mouth appearance; flat feet; diastasis recti; strabismus"	""	""	""	""	""	""	""	""	"LAMSHF"	"intellectual disability"	""
"0000337100"	"00139"	"00447908"	"00006"	"Isolated (sporadic)"	"09y"	"see paper; ..., birth height 50th, weight 50th, OFC 25th; moderate motor developmental delay, 17m-walk; mild-moderate intellectual disability; delayed speech, 4y9m-4 words; behavioural anomalies; no hypotonia; no seizures; unsteady gait; sleep disorder; high forehead, down-slanting palpebral fissures, chubby cheeks, notched nares, prominent philtral ridges, open mouth appearance, thin upper lip, drooping lower lip, pointed chin, prominent upper median incisors; 5th finger clinodactyly; chronic constipation; myopia, strabismus; episodes of bronchiolitis"	""	""	""	""	""	""	""	""	"LAMSHF"	"intellectual disability"	""
"0000337101"	"00139"	"00447909"	"00006"	"Unknown"	"07y"	"see paper; ..., birth height 4th, weight 30th; moderate motor developmental delay, 20m-walk; mild intellectual disability; delayed speech, 3y-first words; no behavioural anomalies; no hypotonia; no seizures; short 3rd phalanges, brachydactyly 2-5th toes, narrow chest, flaring of anterior ribs; intermittent chronic constipation; IgA deficiency"	""	""	""	""	""	""	""	""	"LAMSHF"	"intellectual disability"	""
"0000337102"	"00139"	"00447910"	"00006"	"Isolated (sporadic)"	"17y"	"see paper; ..., intellectual disability (IQ50), moderate developmental delay; speech delay, 2y-first word; delayed motor development, 23m-walk; bilateral optic atrophy; anxiety; moderate hypotonia; no seizures; prominent maxilla, midline tongue groove, narrow palate, overcrowded teeth, small lower jar, 2-3 toe syndactylyl bilaterally; thoracic kyphoscoliosis, lumbar lordosis, and pectus carinatum with spinal fusion; non-progressive bilateral optic atrophy, exotropia and moderate myopia; infantile gastro-esophageal reflux with poor feeding, mild mitral regurgitation"	""	""	""	""	""	""	""	""	"LAMSHF"	"intellectual disability"	""
"0000346281"	"00139"	"00457833"	"03544"	"Familial"	""	"HP:0001249"	""	""	""	""	""	""	""	""	"LAMSHF"	"neurodevelopmental disorder"	""
"0000347700"	"05304"	"00459793"	"01164"	"Isolated (sporadic)"	"02y"	"Global developmental delay, Hypotonia, Joint hypermobility, Low-set ears, Protruding ear, Synophrys"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 32
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000039645"	"00039404"	"1"	"01158"	"01158"	"2015-06-15 15:19:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117998"	"00117535"	"1"	"02064"	"02064"	"2011-12-23 20:40:07"	"02064"	"2011-12-23 20:59:25"	"arrayCGH"	"DNA"	""	""
"0000117999"	"00117536"	"1"	"02064"	"02064"	"2011-12-23 20:19:44"	"02064"	"2011-12-23 20:56:16"	"arrayCGH"	"DNA"	""	""
"0000118000"	"00117537"	"1"	"02064"	"02064"	"2011-12-23 20:11:17"	"02064"	"2011-12-23 20:53:52"	"arrayCGH"	"DNA"	""	""
"0000118001"	"00117538"	"1"	"02064"	"02064"	"2011-12-23 19:42:00"	"02064"	"2011-12-23 20:51:10"	"arrayCGH"	"DNA"	""	""
"0000118002"	"00117539"	"1"	"02064"	"02064"	"2011-12-23 19:25:37"	"02064"	"2011-12-23 20:48:52"	"arrayCGH"	"DNA"	""	""
"0000118003"	"00117540"	"1"	"02064"	"02064"	"2011-12-23 19:13:43"	"02064"	"2011-12-23 20:45:51"	"arrayCGH"	"DNA"	""	""
"0000181053"	"00180150"	"1"	"00006"	"00006"	"2018-08-24 19:40:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378355"	"00377151"	"1"	"01164"	"01164"	"2021-07-12 15:55:44"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000387769"	"00386541"	"1"	"01164"	"01164"	"2021-10-25 15:19:57"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000436333"	"00434861"	"1"	"00006"	"00006"	"2023-04-07 18:27:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000445893"	"00444319"	"1"	"00006"	"00006"	"2023-12-21 19:04:03"	"00006"	"2023-12-21 19:29:38"	"arrayCGH;SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000449463"	"00447892"	"1"	"01164"	"01164"	"2024-01-31 13:42:00"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000449465"	"00447894"	"1"	"00006"	"00006"	"2024-01-31 17:35:55"	""	""	"microscope;SEQ"	"DNA"	""	""
"0000449466"	"00447895"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449467"	"00447896"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449468"	"00447897"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449469"	"00447898"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449470"	"00447899"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449471"	"00447900"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449472"	"00447901"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449473"	"00447902"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449474"	"00447903"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449475"	"00447904"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449476"	"00447905"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449477"	"00447906"	"1"	"00006"	"00006"	"2024-01-31 22:02:27"	""	""	"arrayCGH"	"DNA"	""	""
"0000449478"	"00447907"	"1"	"00006"	"00006"	"2024-02-01 10:10:39"	""	""	"arraySNP"	"DNA"	""	""
"0000449479"	"00447908"	"1"	"00006"	"00006"	"2024-02-01 10:17:47"	""	""	"arrayCGH"	"DNA"	""	""
"0000449480"	"00447909"	"1"	"00006"	"00006"	"2024-02-01 10:23:25"	""	""	"arrayCGH"	"DNA"	""	""
"0000449481"	"00447910"	"1"	"00006"	"00006"	"2024-02-01 12:50:20"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000459453"	"00457833"	"1"	"03544"	"03544"	"2024-11-20 12:20:42"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000461423"	"00459793"	"1"	"01164"	"01164"	"2025-01-14 09:24:59"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}"	"{{geneid}}"
"0000117998"	"SOX5"
"0000117999"	"SOX5"
"0000118000"	"SOX5"
"0000118001"	"SOX5"
"0000118002"	"SOX5"
"0000118003"	"SOX5"
"0000181053"	"SOX5"
"0000378355"	"SOX5"
"0000387769"	"SOX5"
"0000449463"	"SOX5"
"0000449465"	"SOX5"
"0000461423"	"SOX5"


## 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 = 100
"{{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}}"
"0000067267"	"0"	"70"	"12"	"23689544"	"23689544"	"subst"	"0"	"01158"	"SOX5_000007"	"g.23689544G>C"	""	"{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.23536610G>C"	""	"likely pathogenic"	""
"0000193964"	"0"	"90"	"12"	"23924732"	"25330906"	"del"	"0"	"02064"	"SOX5_000006"	"g.(23908659_23924732)_(25330906_?)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 23815999–25222173del"	"1.41 Mb deletion"	"De novo"	""	""	"0"	""	""	"g.(23755725_23771798)_(25177972_?)del"	""	"pathogenic (dominant)"	""
"0000193965"	"0"	"90"	"12"	"24110517"	"24365568"	"del"	"0"	"02064"	"SOX5_000005"	"g.(24102637_24110517)_(24365568_24430149)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 24001784_24256835"	"255 kb deletion"	"Unknown"	""	""	"0"	""	""	"g.(23949703_23957583)_(24212634_24277215)del"	""	"pathogenic (dominant)"	""
"0000193966"	"0"	"90"	"12"	"24095385"	"24349979"	"del"	"0"	"02064"	"SOX5_000004"	"g.(23999128_24095385)_(24349979_24430149)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 23,986,652-24,241,246del"	"255 Kb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(23846194_23942451)_(24197045_24277215)del"	""	"pathogenic (dominant)"	""
"0000193967"	"0"	"90"	"12"	"23674257"	"24139829"	"del"	"0"	"02064"	"SOX5_000003"	"g.(?_23674257)_(24139829_24430151)del"	""	"{PMID:Lamb 2012:22290657}"	""	"chr12:23,565,524-24,031,096"	"466 Kb deletion"	"De novo"	""	""	"0"	""	""	"g.(?_23521323)_(23986895_24277217)del"	""	"pathogenic (dominant)"	""
"0000193968"	"0"	"90"	"12"	"0"	"0"	""	""	"02064"	"SOX5_000002"	"g.(?_23651964_(23807780_23818377)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 23,543,231-23,699,047"	"156 Kb deletion"	"De novo"	""	""	"0"	""	""	"g.(?_23499030)_(23654846_23665443)del"	""	"pathogenic (dominant)"	""
"0000193969"	"0"	"90"	"12"	"23641726"	"23779213"	"del"	"0"	"02064"	"SOX5_000001"	"g.(?_23641726)_(23779213_23793745)del"	""	"{PMID:Lamb 2012:22290657}"	""	"chr12:23532993-23670480"	"137 Kb deletion"	"De novo"	""	""	"0"	""	""	"g.(?_23488792)_(23626279_23640811)del"	""	"pathogenic (dominant)"	""
"0000254461"	"0"	"30"	"12"	"24048832"	"24048832"	"subst"	"0.00532192"	"01943"	"SOX5_000015"	"g.24048832A>G"	""	""	""	"SOX5(NM_152989.4):c.126T>C (p.H42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23895898A>G"	""	"likely benign"	""
"0000299674"	"0"	"50"	"12"	"23699311"	"23699311"	"subst"	"0"	"02329"	"SOX5_000010"	"g.23699311C>G"	""	""	""	"SOX5(NM_152989.5):c.1497G>C (p.Q499H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23546377C>G"	""	"VUS"	""
"0000322716"	"0"	"50"	"12"	"23793784"	"23793784"	"subst"	"3.67884E-5"	"01804"	"SOX5_000013"	"g.23793784C>T"	""	""	""	"SOX5(NM_001261414.1):c.940G>A (p.(Ala314Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23640850C>T"	""	"VUS"	""
"0000322717"	"0"	"50"	"12"	"23893920"	"23893920"	"subst"	"0"	"01804"	"SOX5_000014"	"g.23893920G>A"	""	""	""	"SOX5(NM_152989.3):c.583C>T (p.(Gln195Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23740986G>A"	""	"VUS"	""
"0000341401"	"0"	"90"	"12"	"23757387"	"23757388"	"del"	"0"	"02327"	"SOX5_000023"	"g.23757387_23757388del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23604453_23604454del"	""	"pathogenic"	""
"0000343083"	"0"	"90"	"12"	"23696277"	"23696277"	"subst"	"0"	"02327"	"SOX5_000020"	"g.23696277G>A"	""	""	""	"SOX5(NM_152989.4):c.1600C>T (p.R534*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543343G>A"	""	"pathogenic"	""
"0000343207"	"0"	"50"	"12"	"23689427"	"23689427"	"subst"	"0"	"02327"	"SOX5_000016"	"g.23689427G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23536493G>A"	""	"VUS"	""
"0000345287"	"0"	"70"	"12"	"23893804"	"23893805"	"ins"	"0"	"02327"	"SOX5_000024"	"g.23893804_23893805insA"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23740870_23740871insA"	""	"likely pathogenic"	""
"0000347866"	"0"	"70"	"12"	"23696224"	"23696224"	"subst"	"0"	"02327"	"SOX5_000019"	"g.23696224C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543290C>T"	""	"likely pathogenic"	""
"0000349109"	"0"	"70"	"12"	"23696156"	"23696156"	"subst"	"0"	"02327"	"SOX5_000018"	"g.23696156C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543222C>T"	""	"likely pathogenic"	""
"0000351058"	"0"	"90"	"12"	"23699245"	"23699245"	"subst"	"0"	"02327"	"SOX5_000021"	"g.23699245C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23546311C>T"	""	"pathogenic"	""
"0000404689"	"0"	"70"	"12"	"23818405"	"23818405"	"subst"	"0"	"00006"	"SOX5_000025"	"g.23818405G>A"	""	"{PMID:Tumienė 2018:29286531}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.23665471G>A"	""	"likely pathogenic"	"ACMG"
"0000547620"	"0"	"50"	"12"	"23687370"	"23687370"	"subst"	"0"	"01804"	"SOX5_000028"	"g.23687370G>A"	""	""	""	"SOX5(NM_001261414.1):c.1712C>T (p.(Pro571Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23534436G>A"	""	"VUS"	""
"0000547621"	"0"	"50"	"12"	"23696204"	"23696204"	"subst"	"4.06405E-6"	"02327"	"SOX5_000029"	"g.23696204C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543270C>T"	""	"VUS"	""
"0000547622"	"0"	"50"	"12"	"23696205"	"23696205"	"subst"	"0"	"01943"	"SOX5_000030"	"g.23696205G>A"	""	""	""	"SOX5(NM_152989.4):c.1672C>T (p.R558W), SOX5(NM_152989.5):c.1672C>T (p.R558W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543271G>A"	""	"VUS"	""
"0000547623"	"0"	"50"	"12"	"23696205"	"23696205"	"subst"	"0"	"02325"	"SOX5_000030"	"g.23696205G>A"	""	""	""	"SOX5(NM_152989.4):c.1672C>T (p.R558W), SOX5(NM_152989.5):c.1672C>T (p.R558W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543271G>A"	""	"VUS"	""
"0000547625"	"0"	"90"	"12"	"23696277"	"23696277"	"subst"	"0"	"01943"	"SOX5_000020"	"g.23696277G>A"	""	""	""	"SOX5(NM_152989.4):c.1600C>T (p.R534*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543343G>A"	""	"pathogenic"	""
"0000547626"	"0"	"50"	"12"	"23696281"	"23696281"	"subst"	"0"	"01804"	"SOX5_000032"	"g.23696281T>G"	""	""	""	"SOX5(NM_001261414.1):c.1272A>C (p.(Glu424Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543347T>G"	""	"VUS"	""
"0000547627"	"0"	"90"	"12"	"23699357"	"23699357"	"dup"	"0"	"02329"	"SOX5_000033"	"g.23699357dup"	""	""	""	"SOX5(NM_152989.5):c.1456dupA (p.T486Nfs*13)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23546423dup"	""	"pathogenic"	""
"0000547628"	"0"	"90"	"12"	"23716260"	"23716260"	"subst"	"0"	"02327"	"SOX5_000034"	"g.23716260G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23563326G>A"	""	"pathogenic"	""
"0000547629"	"0"	"50"	"12"	"23716268"	"23716268"	"subst"	"0"	"02327"	"SOX5_000035"	"g.23716268C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23563334C>G"	""	"VUS"	""
"0000547630"	"0"	"90"	"12"	"23818423"	"23818423"	"subst"	"0"	"02329"	"SOX5_000036"	"g.23818423G>A"	""	""	""	"SOX5(NM_152989.5):c.847C>T (p.Q283*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23665489G>A"	""	"pathogenic"	""
"0000547631"	"0"	"70"	"12"	"23887632"	"23887632"	"subst"	"0"	"01804"	"SOX5_000037"	"g.23887632G>A"	""	""	""	"SOX5(NM_006940.4):c.796C>T (p.(Gln266Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23734698G>A"	""	"likely pathogenic"	""
"0000547632"	"0"	"90"	"12"	"23908622"	"23908622"	"subst"	"0"	"02325"	"SOX5_000038"	"g.23908622C>T"	""	""	""	"SOX5(NM_152989.5):c.479G>A (p.W160*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23755688C>T"	""	"pathogenic"	""
"0000547634"	"0"	"90"	"12"	"23999106"	"23999107"	"del"	"0"	"01943"	"SOX5_000040"	"g.23999106_23999107del"	""	""	""	"SOX5(NM_152989.4):c.253_254delAT (p.M85Vfs*28)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23846172_23846173del"	""	"pathogenic"	""
"0000547635"	"0"	"70"	"12"	"24048727"	"24048727"	"del"	"0"	"02325"	"SOX5_000041"	"g.24048727del"	""	""	""	"SOX5(NM_152989.5):c.231+1delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23895793del"	""	"likely pathogenic"	""
"0000547636"	"0"	"10"	"12"	"24521499"	"24521499"	"del"	"0"	"01943"	"SOX5_000042"	"g.24521499del"	""	""	""	"SOX5(NM_001261414.1):c.-174+1del (p.(=)), SOX5(NM_152989.4):c.-99+1delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24368565del"	""	"benign"	""
"0000547637"	"0"	"30"	"12"	"24521499"	"24521499"	"del"	"0"	"01804"	"SOX5_000042"	"g.24521499del"	""	""	""	"SOX5(NM_001261414.1):c.-174+1del (p.(=)), SOX5(NM_152989.4):c.-99+1delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24368565del"	""	"likely benign"	""
"0000679471"	"0"	"70"	"12"	"23689597"	"23689597"	"subst"	"0"	"01804"	"SOX5_000043"	"g.23689597C>T"	""	""	""	"SOX5(NM_006940.4):c.1778G>A (p.(Arg593His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000679472"	"0"	"50"	"12"	"23757350"	"23757350"	"subst"	"0"	"01943"	"SOX5_000044"	"g.23757350T>C"	""	""	""	"SOX5(NM_152989.4):c.1096A>G (p.S366G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691317"	"0"	"30"	"12"	"24048932"	"24048932"	"subst"	"0.000138417"	"01943"	"SOX5_000045"	"g.24048932G>A"	""	""	""	"SOX5(NM_006940.6):c.65C>T (p.(Pro22Leu)), SOX5(NM_152989.4):c.26C>T (p.P9L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723983"	"0"	"50"	"12"	"23689513"	"23689513"	"subst"	"0"	"02329"	"SOX5_000009"	"g.23689513G>C"	""	""	""	"SOX5(NM_152989.5):c.1823C>G (p.P608R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723984"	"0"	"70"	"12"	"23696243"	"23696243"	"subst"	"0"	"02327"	"SOX5_000031"	"g.23696243C>T"	""	""	""	"SOX5(NM_006940.6):c.1673G>A (p.R558H), SOX5(NM_152989.5):c.1634G>A (p.R545H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000723985"	"0"	"70"	"12"	"23696243"	"23696243"	"subst"	"0"	"02329"	"SOX5_000031"	"g.23696243C>T"	""	""	""	"SOX5(NM_006940.6):c.1673G>A (p.R558H), SOX5(NM_152989.5):c.1634G>A (p.R545H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000723986"	"0"	"50"	"12"	"23793804"	"23793804"	"subst"	"0"	"02327"	"SOX5_000046"	"g.23793804G>A"	""	""	""	"SOX5(NM_006940.6):c.959C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723987"	"0"	"50"	"12"	"23998926"	"23998926"	"subst"	"0"	"02329"	"SOX5_000039"	"g.23998926C>T"	""	""	""	"SOX5(NM_152989.5):c.433G>A (p.E145K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000791107"	"0"	"70"	"12"	"23696204"	"23696204"	"subst"	"4.06405E-6"	"01164"	"SOX5_000029"	"g.23696204C>T"	""	"PMID: 33767182"	""	""	"ACMG: PS2_MOD, PM1, PS4_SUP, PM2_SUP, PP3"	"Germline"	"?"	""	""	""	""	""	"VCV000973345.2"	"likely pathogenic (dominant)"	"ACMG"
"0000805671"	"0"	"50"	"12"	"23728699"	"23728699"	"subst"	"3.28961E-5"	"01943"	"SOX5_000047"	"g.23728699G>A"	""	""	""	"SOX5(NM_152989.4):c.1199C>T (p.T400I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805672"	"0"	"30"	"12"	"23887678"	"23887678"	"subst"	"0.001777"	"01943"	"SOX5_000048"	"g.23887678T>C"	""	""	""	"SOX5(NM_152989.4):c.711A>G (p.R237=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000815924"	"0"	"70"	"12"	"23757349"	"23757349"	"del"	"0"	"01164"	"SOX5_000049"	"g.23757349del"	""	""	""	""	"ACMG: PVS1, PS2_SUP, PM2_SUP / confirmed de novo in trio-exome"	"De novo"	"-"	""	"0"	""	""	"g.23604415del"	""	"pathogenic (dominant)"	"ACMG"
"0000853349"	"0"	"70"	"12"	"23696243"	"23696243"	"subst"	"0"	"02325"	"SOX5_000031"	"g.23696243C>T"	""	""	""	"SOX5(NM_006940.6):c.1673G>A (p.R558H), SOX5(NM_152989.5):c.1634G>A (p.R545H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000862946"	"0"	"30"	"12"	"23689511"	"23689511"	"subst"	"0"	"02327"	"SOX5_000050"	"g.23689511C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862947"	"0"	"90"	"12"	"23689532"	"23689532"	"subst"	"0"	"02327"	"SOX5_000051"	"g.23689532G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000862948"	"0"	"90"	"12"	"23696219"	"23696219"	"subst"	"0"	"02325"	"SOX5_000052"	"g.23696219C>T"	""	""	""	"SOX5(NM_006940.6):c.1697G>A (p.W566*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000913814"	"0"	"30"	"12"	"23728723"	"23728723"	"subst"	"0"	"01804"	"SOX5_000053"	"g.23728723T>A"	""	""	""	"SOX5(NM_001261415.1):c.1184A>T (p.(Asp395Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913815"	"0"	"90"	"12"	"23893905"	"23893905"	"subst"	"0"	"02327"	"SOX5_000054"	"g.23893905G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000922695"	"0"	"50"	"12"	"23818381"	"23818381"	"subst"	"0"	"00006"	"SOX5_000055"	"g.23818381A>T"	""	"{PMID:Gostain 2020:32960281}"	""	"NM_006940.4:c.928T>A"	""	"De novo"	""	""	"0"	""	""	"g.23665447A>T"	""	"VUS"	""
"0000930062"	"0"	"50"	"12"	"23999061"	"23999061"	"subst"	"0"	"02325"	"SOX5_000056"	"g.23999061C>T"	""	""	""	"SOX5(NM_006940.6):c.337G>A (p.A113T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949926"	"0"	"90"	"12"	"23716269"	"23716269"	"subst"	"0"	"02327"	"SOX5_000057"	"g.23716269G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000949927"	"0"	"50"	"12"	"23728711"	"23728711"	"subst"	"0"	"02325"	"SOX5_000058"	"g.23728711G>T"	""	""	""	"SOX5(NM_006940.6):c.1226C>A (p.(Pro409His), p.P409H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000954078"	"0"	"90"	"12"	"21958108"	"24715383"	"del"	"0"	"00006"	"SOX5_000059"	"g.(?_21958108)_(24715383_?)del"	""	"{PMID:Moon 2021:35052368}"	""	"12p12.2p12.1 deletion"	""	"De novo"	""	""	"0"	""	""	"g.(?_21805174)_(24562449_?)del"	""	"pathogenic"	""
"0000959671"	"0"	"70"	"12"	"23689514"	"23689514"	"subst"	"0"	"01164"	"SOX5_000060"	"g.23689514G>A"	""	""	""	"NM_006940.6:c.1861C>T; p.(Pro621Ser)"	"ACMG: PS2_MOD, PM1, PP3_MOD, PM2_SUP, PP2, confirmed de novo in trio"	"De novo"	"-"	""	""	""	""	"g.23536580G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000959673"	"0"	"90"	"12"	"0"	"0"	""	""	"00006"	"SOX5_000061"	"g.pter_23711191delins[NC_000011.9:g.pter_35077325]"	""	"{PMID:Lamb 2012:22290657}"	""	"del around break point c.1449+5001_1449+5009"	"translocation"	"De novo"	""	""	"0"	""	"46,XX,t(11;12)(p13;p12.1)dn"	"g.pter_23558257delins[NC_000011.10:g.pter_35055778]"	""	"pathogenic (dominant)"	""
"0000959674"	"0"	"90"	"12"	"0"	"0"	""	""	"00006"	"SOX5_000061"	"g.[NC_000011.9:g.pter_35077325del]inspter_23711183"	""	"{PMID:Lamb 2012:22290657}"	""	""	""	"DUPLICATE record"	""	""	"0"	""	"46,XX,t(11;12)(p13;p12.1)dn"	"g.[NC_000011.10:g.pter_35055778del]inspter_23558249"	""	"pathogenic (dominant)"	""
"0000959677"	"0"	"90"	"12"	"23637679"	"23717515"	"del"	"0"	"00006"	"SOX5_000064"	"g.(?_23637679)_(23717515_23757320)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 23528946-23608782del"	"80kb deletion"	"De novo"	""	""	"0"	""	""	"g.(?_23484745)_(23564581_23604386)del"	""	"pathogenic (dominant)"	""
"0000959678"	"21"	"90"	"12"	"23854582"	"23988036"	"del"	"0"	"00006"	"SOX5_000065"	"g.23854582_23988036del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 23745849-23879303del"	"133kb deletion"	"Germline"	""	""	"0"	""	""	"g.23701648_23835102del"	""	"pathogenic (dominant)"	""
"0000959679"	"21"	"90"	"12"	"23854582"	"23988036"	"del"	"0"	"00006"	"SOX5_000065"	"g.23854582_23988036del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 23745849-23879303del"	"133kb deletion"	"Germline"	""	""	"0"	""	""	"g.23701648_23835102del"	""	"pathogenic (dominant)"	""
"0000959680"	"11"	"50"	"12"	"24430247"	"24515358"	"del"	"0"	"00006"	"SOX5_000066"	"g.(24430247_24515358)_(24586874_2471526)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 24406625-24478141del"	"72kb deletion"	"Germline"	""	""	"0"	""	""	"g.(24277313_24362424)_(24433940_24562332)del"	""	"VUS"	""
"0000959681"	"0"	"90"	"12"	"14536128"	"26629029"	"del"	"0"	"00006"	"SOX5_000059"	"g.(?_14536128)_(26629029_?)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 14427395-26520296del"	"12.09Mb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_14383194)_(26476095_?)del"	""	"pathogenic (dominant)"	""
"0000959682"	"0"	"90"	"12"	"14804882"	"25254269"	"del"	"0"	"00006"	"SOX5_000059"	"g.(?_14804882)_(25254269_?)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 14696149-25145536del"	"10.45Mb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_14651948)_(25101335_?)del"	""	"pathogenic (dominant)"	""
"0000959683"	"0"	"90"	"12"	"17894465"	"26692082"	"del"	"0"	"00006"	"SOX5_000059"	"g.(17864393_17894465)_(26692082_26741165)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 (17755660-17785732)_(26583349-26632432)del"	"8.80Mb deletion; variant not maternal"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(17711459_17741531)_(26539148_26588231)del"	""	"pathogenic (dominant)"	""
"0000959684"	"0"	"90"	"12"	"17894465"	"26692082"	"del"	"0"	"00006"	"SOX5_000059"	"g.(17864393_17894465)_(26692082_26741165)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 (17755660-17785732)_(26583349-26632432)del"	"8.80Mb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(17711459_17741531)_(26539148_26588231)del"	""	"pathogenic (dominant)"	""
"0000959685"	"0"	"90"	"12"	"23196409"	"28854070"	"del"	"0"	"00006"	"SOX5_000059"	"g.(?_23196409)_(28854070_?)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 23087676-28745337del"	"5.66Mb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_23043475)_(28701136_?)del"	""	"pathogenic (dominant)"	""
"0000959686"	"11"	"50"	"12"	"24455568"	"28651389"	"del"	"0"	"00006"	"SOX5_000067"	"g.(24430247_24455568)_(28651389_?)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 24346835-28542656del"	"4.20Mb deletion"	"Germline"	""	""	"0"	""	""	"g.(24277313_24302634)_(28498455_?)del"	""	"VUS"	""
"0000959687"	"0"	"90"	"12"	"17894465"	"26692142"	"del"	"0"	"00006"	"SOX5_000059"	"g.(?_17894465)_(26692142_?)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 17785732-26583409del"	"8.80Mb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_17741531)_(26539208_?)del"	""	"pathogenic (dominant)"	""
"0000959688"	"0"	"90"	"12"	"17894465"	"26692142"	"del"	"0"	"00006"	"SOX5_000059"	"g.(?_17894465)_(26692142_?)del"	""	"{PMID:Lamb 2012:22290657}"	""	"hg18 17785732-26583409del"	"8.80Mb deletion"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_17741531)_(26539208_?)del"	""	"pathogenic (dominant)"	""
"0000959692"	"0"	"90"	"12"	"22421864"	"24678010"	"del"	"0"	"00006"	"SOX5_000059"	"g.(?_22421864)_(24678010_?)del"	""	"{PMID:Schanze 2013:23220431}"	""	""	"2.26 Mb deletion incl. 4 genes"	"De novo"	""	""	"0"	""	"hg19 22,421,864-24,678,010x1"	"g.(?_22268930)_(24525076_?)del"	""	"pathogenic (dominant)"	""
"0000959693"	"0"	"90"	"12"	"23924800"	"24041968"	"del"	"0"	"00006"	"SOX5_000062"	"g.(?_23924800)_(24041968_?)del"	""	"{PMID:Schanze 2013:23220431}"	""	""	"120 kb deletion"	"De novo"	""	""	"0"	""	"hg19 23,924,800-24,041,968x1"	"g.(?_23771866)_(23889034_?)del"	""	"pathogenic (dominant)"	""
"0000959694"	"0"	"90"	"12"	"22609919"	"27538360"	"del"	"0"	"00006"	"SOX5_000061"	"g.(?_22609919)_(27538360_?)del"	""	"{PMID:Schanze 2013:23220431}"	""	""	"4.93 Mb deletion incl. 23 genes"	"Germline/De novo (untested)"	""	""	"0"	""	"hg19 22,609,919-27,538,360x1"	"g.(?_22456985)_(27385426_?)del"	""	"pathogenic (dominant)"	""
"0000959695"	"0"	"90"	"12"	"23757425"	"23757425"	"subst"	"0"	"00006"	"SOX5_000063"	"g.23757425C>A"	""	"{PMID:Nesbitt 2015:26111154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.23604491C>A"	""	"pathogenic (dominant)"	""
"0000980194"	"0"	"30"	"12"	"23696136"	"23696136"	"subst"	"0"	"01804"	"SOX5_000068"	"g.23696136T>C"	""	""	""	"SOX5(NM_006940.6):c.1771+9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000980195"	"0"	"50"	"12"	"23818446"	"23818446"	"subst"	"0"	"01804"	"SOX5_000069"	"g.23818446C>G"	""	""	""	"SOX5(NM_006940.6):c.863G>C (p.(Arg288Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980196"	"0"	"30"	"12"	"24102582"	"24102582"	"subst"	"3.66125E-5"	"01804"	"SOX5_000070"	"g.24102582G>A"	""	""	""	"SOX5(NM_006940.6):c.-47C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000999908"	"0"	"50"	"12"	"23687249"	"23687249"	"subst"	"0"	"01804"	"SOX5_000071"	"g.23687249A>T"	""	""	""	"SOX5(NM_006940.4):c.2196T>A (p.(Asp732Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000999909"	"0"	"50"	"12"	"23699280"	"23699280"	"subst"	"0"	"01804"	"SOX5_000072"	"g.23699280T>C"	""	""	""	"SOX5(NM_152989.3):c.1528A>G (p.(Met510Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000999910"	"0"	"30"	"12"	"24048882"	"24048882"	"subst"	"0"	"01804"	"SOX5_000073"	"g.24048882C>T"	""	""	""	"SOX5(NM_152989.3):c.76G>A (p.(Val26Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014954"	"0"	"90"	"12"	"23728730"	"23728730"	"del"	"0"	"02326"	"SOX5_000074"	"g.23728730del"	""	""	""	"SOX5(NM_152989.5):c.1168delA (p.T390Pfs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001017480"	"0"	"70"	"12"	"24048763"	"24048763"	"subst"	"0"	"03544"	"SOX5_000075"	"g.24048763A>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.23895829A>T"	"{CV:3381758}"	"likely pathogenic"	"ACMG"
"0001020739"	"0"	"70"	"12"	"23696243"	"23696243"	"subst"	"0"	"01164"	"SOX5_000076"	"g.23696243C>G"	""	""	""	""	"ACMG: PS2_MOD, PM1, PM5, PP3_MOD, PM2_SUP"	"De novo"	"-"	""	""	""	""	"g.23543309C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0001026151"	"0"	"50"	"12"	"24048942"	"24048942"	"subst"	"2.03563E-5"	"02325"	"SOX5_000077"	"g.24048942G>C"	""	""	""	"SOX5(NM_006940.6):c.55C>G (p.P19A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039144"	"0"	"70"	"12"	"23689598"	"23689598"	"subst"	"8.13365E-6"	"01804"	"SOX5_000078"	"g.23689598G>A"	""	""	""	"SOX5(NM_006940.6):c.1777C>T (p.(Arg593Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001039145"	"0"	"30"	"12"	"23728711"	"23728711"	"subst"	"0"	"01804"	"SOX5_000058"	"g.23728711G>T"	""	""	""	"SOX5(NM_006940.6):c.1226C>A (p.(Pro409His), p.P409H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039146"	"0"	"30"	"12"	"23908917"	"23908917"	"subst"	"0"	"01804"	"SOX5_000079"	"g.23908917T>G"	""	""	""	"SOX5(NM_006940.6):c.482-259A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039147"	"0"	"30"	"12"	"23998751"	"23998751"	"subst"	"0"	"01804"	"SOX5_000080"	"g.23998751G>A"	""	""	""	"SOX5(NM_006940.6):c.481+166C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039148"	"0"	"50"	"12"	"23998924"	"23998924"	"subst"	"0"	"01804"	"SOX5_000081"	"g.23998924C>A"	""	""	""	"SOX5(NM_006940.6):c.474G>T (p.(Glu158Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039149"	"0"	"50"	"12"	"24048752"	"24048752"	"subst"	"0"	"01804"	"SOX5_000082"	"g.24048752G>A"	""	""	""	"SOX5(NM_006940.6):c.245C>T (p.(Thr82Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039150"	"0"	"50"	"12"	"24048803"	"24048803"	"subst"	"0"	"01804"	"SOX5_000083"	"g.24048803T>C"	""	""	""	"SOX5(NM_006940.6):c.194A>G (p.(Glu65Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039151"	"0"	"30"	"12"	"24404850"	"24404850"	"subst"	"0"	"01804"	"SOX5_000084"	"g.24404850G>T"	""	""	""	"SOX5(NM_001261414.3):c.-77+25300C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039152"	"0"	"30"	"12"	"24470894"	"24470894"	"subst"	"0"	"01804"	"SOX5_000085"	"g.24470894C>T"	""	""	""	"SOX5(NM_001261414.3):c.-173-40648G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001054257"	"0"	"30"	"12"	"23833281"	"23833281"	"dup"	"0"	"01804"	"SOX5_000086"	"g.23833281dup"	""	""	""	"SOX5(NM_006940.6):c.811-14762dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001054258"	"0"	"50"	"12"	"23999045"	"23999045"	"subst"	"4.0664E-6"	"01804"	"SOX5_000087"	"g.23999045C>T"	""	""	""	"SOX5(NM_006940.6):c.353G>A (p.(Arg118Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054259"	"0"	"50"	"12"	"24048729"	"24048729"	"subst"	"1.2202E-5"	"01804"	"SOX5_000088"	"g.24048729T>C"	""	""	""	"SOX5(NM_006940.6):c.268A>G (p.(Met90Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054260"	"0"	"30"	"12"	"24048932"	"24048932"	"subst"	"0.000138417"	"01804"	"SOX5_000045"	"g.24048932G>A"	""	""	""	"SOX5(NM_006940.6):c.65C>T (p.(Pro22Leu)), SOX5(NM_152989.4):c.26C>T (p.P9L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 SOX5
## Count = 100
"{{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}}"
"0000067267"	"00024238"	"70"	"1792"	"0"	"1792"	"0"	"c.1792C>G"	"r.(?)"	"p.(Arg598Gly)"	"17"
"0000193964"	"00024238"	"90"	"0"	"0"	"0"	"0"	"c.-374_(443-16074_443-1){0}"	"r.0?"	"p.0?"	"_1_6i"
"0000193965"	"00024238"	"90"	"-2"	"64582"	"-1"	"-61559"	"c.(-2+1_-2+64582)_(-1-61559_-1-53679)del"	"r.?"	"p.0?"	"4i"
"0000193966"	"00024238"	"90"	"-2"	"80171"	"-1"	"-46427"	"c.(-2+1_-2+80171)_(-1-46427_232-1)del"	"r.?"	"p.0?"	"3i_4i"
"0000193967"	"00024238"	"90"	"-1"	"-90871"	"4175"	"0"	"c.(-2+1_-1-90871)_(*1922_?)del"	"r.?"	"p.0?"	"4i_18_"
"0000193968"	"00024238"	"90"	"0"	"0"	"0"	"0"	"c.(892+1_892+10598)_*1922{0}"	"r.?"	"p.?"	"10i_18_"
"0000193969"	"00024238"	"90"	"0"	"0"	"0"	"0"	"c.(978+1_979-1)_*1922{0}"	"r.?"	"p.?"	"11i_18_"
"0000254461"	"00024238"	"30"	"126"	"0"	"126"	"0"	"c.126T>C"	"r.(?)"	"p.(His42=)"	""
"0000299674"	"00024238"	"50"	"1497"	"0"	"1497"	"0"	"c.1497G>C"	"r.(?)"	"p.(Gln499His)"	""
"0000322716"	"00024238"	"50"	"940"	"0"	"940"	"0"	"c.940G>A"	"r.(?)"	"p.(Ala314Thr)"	""
"0000322717"	"00024238"	"50"	"583"	"0"	"583"	"0"	"c.583C>T"	"r.(?)"	"p.(Gln195Ter)"	""
"0000341401"	"00024238"	"90"	"1059"	"0"	"1060"	"0"	"c.1059_1060del"	"r.(?)"	"p.(Ala354CysfsTer23)"	""
"0000343083"	"00024238"	"90"	"1600"	"0"	"1600"	"0"	"c.1600C>T"	"r.(?)"	"p.(Arg534Ter)"	""
"0000343207"	"00024238"	"50"	"1909"	"0"	"1909"	"0"	"c.1909C>T"	"r.(?)"	"p.(Arg637Cys)"	""
"0000345287"	"00024238"	"70"	"698"	"0"	"699"	"0"	"c.698_699insT"	"r.(?)"	"p.(Glu233AspfsTer41)"	""
"0000347866"	"00024238"	"70"	"1653"	"0"	"1653"	"0"	"c.1653G>A"	"r.(?)"	"p.(Met551Ile)"	""
"0000349109"	"00024238"	"70"	"1721"	"0"	"1721"	"0"	"c.1721G>A"	"r.(?)"	"p.(Ser574Asn)"	""
"0000351058"	"00024238"	"90"	"1558"	"5"	"1558"	"5"	"c.1558+5G>A"	"r.spl?"	"p.?"	""
"0000404689"	"00024238"	"70"	"865"	"0"	"865"	"0"	"c.865C>T"	"r.(?)"	"p.(Pro289Ser)"	"11"
"0000547620"	"00024238"	"50"	"2036"	"0"	"2036"	"0"	"c.2036C>T"	"r.(?)"	"p.(Pro679Leu)"	""
"0000547621"	"00024238"	"50"	"1673"	"0"	"1673"	"0"	"c.1673G>A"	"r.(?)"	"p.(Arg558Gln)"	""
"0000547622"	"00024238"	"50"	"1672"	"0"	"1672"	"0"	"c.1672C>T"	"r.(?)"	"p.(Arg558Trp)"	""
"0000547623"	"00024238"	"50"	"1672"	"0"	"1672"	"0"	"c.1672C>T"	"r.(?)"	"p.(Arg558Trp)"	""
"0000547625"	"00024238"	"90"	"1600"	"0"	"1600"	"0"	"c.1600C>T"	"r.(?)"	"p.(Arg534Ter)"	""
"0000547626"	"00024238"	"50"	"1596"	"0"	"1596"	"0"	"c.1596A>C"	"r.(?)"	"p.(Glu532Asp)"	""
"0000547627"	"00024238"	"90"	"1456"	"0"	"1456"	"0"	"c.1456dup"	"r.(?)"	"p.(Thr486AsnfsTer13)"	""
"0000547628"	"00024238"	"90"	"1381"	"0"	"1381"	"0"	"c.1381C>T"	"r.(?)"	"p.(Gln461Ter)"	""
"0000547629"	"00024238"	"50"	"1373"	"0"	"1373"	"0"	"c.1373G>C"	"r.(?)"	"p.(Arg458Pro)"	""
"0000547630"	"00024238"	"90"	"847"	"0"	"847"	"0"	"c.847C>T"	"r.(?)"	"p.(Gln283Ter)"	""
"0000547631"	"00024238"	"70"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Gln253Ter)"	""
"0000547632"	"00024238"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Trp160Ter)"	""
"0000547634"	"00024238"	"90"	"253"	"0"	"254"	"0"	"c.253_254del"	"r.(?)"	"p.(Met85ValfsTer28)"	""
"0000547635"	"00024238"	"70"	"231"	"1"	"231"	"1"	"c.231+1del"	"r.spl?"	"p.?"	""
"0000547636"	"00024238"	"10"	"-99"	"1"	"-99"	"1"	"c.-99+1del"	"r.spl?"	"p.?"	""
"0000547637"	"00024238"	"30"	"-99"	"1"	"-99"	"1"	"c.-99+1del"	"r.spl?"	"p.?"	""
"0000679471"	"00024238"	"70"	"1739"	"0"	"1739"	"0"	"c.1739G>A"	"r.(?)"	"p.(Arg580His)"	""
"0000679472"	"00024238"	"50"	"1096"	"0"	"1096"	"0"	"c.1096A>G"	"r.(?)"	"p.(Ser366Gly)"	""
"0000691317"	"00024238"	"30"	"26"	"0"	"26"	"0"	"c.26C>T"	"r.(?)"	"p.(Pro9Leu)"	""
"0000723983"	"00024238"	"50"	"1823"	"0"	"1823"	"0"	"c.1823C>G"	"r.(?)"	"p.(Pro608Arg)"	""
"0000723984"	"00024238"	"70"	"1634"	"0"	"1634"	"0"	"c.1634G>A"	"r.(?)"	"p.(Arg545His)"	""
"0000723985"	"00024238"	"70"	"1634"	"0"	"1634"	"0"	"c.1634G>A"	"r.(?)"	"p.(Arg545His)"	""
"0000723986"	"00024238"	"50"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Pro307Leu)"	""
"0000723987"	"00024238"	"50"	"433"	"0"	"433"	"0"	"c.433G>A"	"r.(?)"	"p.(Glu145Lys)"	""
"0000791107"	"00024238"	"70"	"1673"	"0"	"1673"	"0"	"c.1673G>A"	"r.(?)"	"p.(Arg558Gln)"	""
"0000805671"	"00024238"	"50"	"1199"	"0"	"1199"	"0"	"c.1199C>T"	"r.(?)"	"p.(Thr400Ile)"	""
"0000805672"	"00024238"	"30"	"711"	"0"	"711"	"0"	"c.711A>G"	"r.(?)"	"p.(Arg237=)"	""
"0000815924"	"00024238"	"70"	"1097"	"0"	"1097"	"0"	"c.1097del"	"r.(?)"	"p.(Ser366Thrfs*17)"	""
"0000853349"	"00024238"	"70"	"1634"	"0"	"1634"	"0"	"c.1634G>A"	"r.(?)"	"p.(Arg545His)"	""
"0000862946"	"00024238"	"30"	"1825"	"0"	"1825"	"0"	"c.1825G>A"	"r.(?)"	"p.(Asp609Asn)"	""
"0000862947"	"00024238"	"90"	"1804"	"0"	"1804"	"0"	"c.1804C>T"	"r.(?)"	"p.(Gln602*)"	""
"0000862948"	"00024238"	"90"	"1658"	"0"	"1658"	"0"	"c.1658G>A"	"r.(?)"	"p.(Trp553*)"	""
"0000913814"	"00024238"	"30"	"1175"	"0"	"1175"	"0"	"c.1175A>T"	"r.(?)"	"p.(Asp392Val)"	""
"0000913815"	"00024238"	"90"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	""
"0000922695"	"00024238"	"50"	"889"	"0"	"889"	"0"	"c.889T>A"	"r.(?)"	"p.(Cys297Ser)"	""
"0000930062"	"00024238"	"50"	"298"	"0"	"298"	"0"	"c.298G>A"	"r.(?)"	"p.(Ala100Thr)"	""
"0000949926"	"00024238"	"90"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Arg458*)"	""
"0000949927"	"00024238"	"50"	"1187"	"0"	"1187"	"0"	"c.1187C>A"	"r.(?)"	"p.(Pro396His)"	""
"0000954078"	"00024238"	"90"	"0"	"0"	"0"	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959671"	"00024238"	"70"	"1822"	"0"	"1822"	"0"	"c.1822C>T"	"r.(?)"	"p.(Pro608Ser)"	""
"0000959673"	"00024238"	"90"	"0"	"0"	"0"	"0"	"c.-374_*1922{1}"	"r.?"	"p.?"	"14i"
"0000959674"	"00024238"	"90"	"0"	"0"	"0"	"0"	"c.-374_*1922{1}"	"r.?"	"p.?"	"14i"
"0000959677"	"00024238"	"90"	""	"0"	""	"0"	"c.(1125+1_1304-1178)_*1922{0}"	"r.?"	"p.?"	"12i_18_"
"0000959678"	"00024238"	"90"	"442"	"10881"	"771"	"33036"	"c.442+10881_771+33036del"	"r.?"	"p.?"	"5i_9i"
"0000959679"	"00024238"	"90"	"442"	"10881"	"771"	"33036"	"c.442+10881_771+33036del"	"r.?"	"p.?"	"5i_9i"
"0000959680"	"00024238"	"50"	"-257"	"-26374"	"-99"	"6139"	"c.(-258+1_-257-26374)_(-99+6139_-98-1)del"	"r.0"	"p.0?"	"1i_3i"
"0000959681"	"00024238"	"90"	""	"0"	""	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959682"	"00024238"	"90"	""	"0"	""	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959683"	"00024238"	"90"	""	"0"	""	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959684"	"00024238"	"90"	""	"0"	""	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959685"	"00024238"	"90"	""	"0"	""	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959686"	"00024238"	"50"	"-374"	"0"	"-98"	"-25322"	"c.-374_(-98-25322_-98-1)del"	"r.0"	"p.0?"	"_1_3i"
"0000959687"	"00024238"	"90"	""	"0"	""	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959688"	"00024238"	"90"	""	"0"	""	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959692"	"00024238"	"90"	"0"	"0"	"0"	"0"	"c.-374_*1922{0}"	"r.0"	"p.0"	"_1_18_"
"0000959693"	"00024238"	"90"	"231"	"6759"	"443"	"-16142"	"c.(?_231+6759)_(443-16142_?)del"	"r.?"	"p.?"	"5i_6i"
"0000959694"	"00024238"	"90"	"0"	"0"	"0"	"0"	"c.-374_*1922{1}"	"r.0"	"p.0"	"_1_18_"
"0000959695"	"00024238"	"90"	"1021"	"0"	"1021"	"0"	"c.1021G>T"	"r.(?)"	"p.(Gly341*)"	""
"0000980194"	"00024238"	"30"	"1732"	"9"	"1732"	"9"	"c.1732+9A>G"	"r.(=)"	"p.(=)"	""
"0000980195"	"00024238"	"50"	"824"	"0"	"824"	"0"	"c.824G>C"	"r.(?)"	"p.(Arg275Pro)"	""
"0000980196"	"00024238"	"30"	"-1"	"-53624"	"-1"	"-53624"	"c.-1-53624C>T"	"r.(=)"	"p.(=)"	""
"0000999908"	"00024238"	"50"	"2157"	"0"	"2157"	"0"	"c.2157T>A"	"r.(?)"	"p.(Asn719Lys)"	""
"0000999909"	"00024238"	"50"	"1528"	"0"	"1528"	"0"	"c.1528A>G"	"r.(?)"	"p.(Met510Val)"	""
"0000999910"	"00024238"	"30"	"76"	"0"	"76"	"0"	"c.76G>A"	"r.(?)"	"p.(Val26Met)"	""
"0001014954"	"00024238"	"90"	"1168"	"0"	"1168"	"0"	"c.1168del"	"r.(?)"	"p.(Thr390Profs*18)"	""
"0001017480"	"00024238"	"70"	"195"	"0"	"195"	"0"	"c.195T>A"	"r.(?)"	"p.(Cys65*)"	"2"
"0001020739"	"00024238"	"70"	"1634"	"0"	"1634"	"0"	"c.1634G>C"	"r.(?)"	"p.(Arg545Pro)"	"13"
"0001026151"	"00024238"	"50"	"16"	"0"	"16"	"0"	"c.16C>G"	"r.(?)"	"p.(Pro6Ala)"	""
"0001039144"	"00024238"	"70"	"1738"	"0"	"1738"	"0"	"c.1738C>T"	"r.(?)"	"p.(Arg580Cys)"	""
"0001039145"	"00024238"	"30"	"1187"	"0"	"1187"	"0"	"c.1187C>A"	"r.(?)"	"p.(Pro396His)"	""
"0001039146"	"00024238"	"30"	"443"	"-259"	"443"	"-259"	"c.443-259A>C"	"r.(=)"	"p.(=)"	""
"0001039147"	"00024238"	"30"	"442"	"166"	"442"	"166"	"c.442+166C>T"	"r.(=)"	"p.(=)"	""
"0001039148"	"00024238"	"50"	"435"	"0"	"435"	"0"	"c.435G>T"	"r.(?)"	"p.(Glu145Asp)"	""
"0001039149"	"00024238"	"50"	"206"	"0"	"206"	"0"	"c.206C>T"	"r.(?)"	"p.(Thr69Ile)"	""
"0001039150"	"00024238"	"50"	"155"	"0"	"155"	"0"	"c.155A>G"	"r.(?)"	"p.(Glu52Gly)"	""
"0001039151"	"00024238"	"30"	"-2"	"25300"	"-2"	"25300"	"c.-2+25300C>A"	"r.(=)"	"p.(=)"	""
"0001039152"	"00024238"	"30"	"-98"	"-40648"	"-98"	"-40648"	"c.-98-40648G>A"	"r.(=)"	"p.(=)"	""
"0001054257"	"00024238"	"30"	"772"	"-14762"	"772"	"-14762"	"c.772-14762dup"	"r.(=)"	"p.(=)"	""
"0001054258"	"00024238"	"50"	"314"	"0"	"314"	"0"	"c.314G>A"	"r.(?)"	"p.(Arg105Gln)"	""
"0001054259"	"00024238"	"50"	"229"	"0"	"229"	"0"	"c.229A>G"	"r.(?)"	"p.(Met77Val)"	""
"0001054260"	"00024238"	"30"	"26"	"0"	"26"	"0"	"c.26C>T"	"r.(?)"	"p.(Pro9Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 33
"{{screeningid}}"	"{{variantid}}"
"0000039645"	"0000067267"
"0000117998"	"0000193964"
"0000117999"	"0000193965"
"0000118000"	"0000193966"
"0000118001"	"0000193967"
"0000118002"	"0000193968"
"0000118003"	"0000193969"
"0000181053"	"0000404689"
"0000378355"	"0000791107"
"0000387769"	"0000815924"
"0000436333"	"0000922695"
"0000445893"	"0000954078"
"0000449463"	"0000959671"
"0000449465"	"0000959673"
"0000449465"	"0000959674"
"0000449466"	"0000959677"
"0000449467"	"0000959678"
"0000449468"	"0000959679"
"0000449469"	"0000959680"
"0000449470"	"0000959681"
"0000449471"	"0000959682"
"0000449472"	"0000959683"
"0000449473"	"0000959684"
"0000449474"	"0000959685"
"0000449475"	"0000959686"
"0000449476"	"0000959687"
"0000449477"	"0000959688"
"0000449478"	"0000959692"
"0000449479"	"0000959693"
"0000449480"	"0000959694"
"0000449481"	"0000959695"
"0000459453"	"0001017480"
"0000461423"	"0001020739"