### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCAPER) # 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}}" "SCAPER" "S-phase cyclin A-associated protein in the ER" "15" "q24.3" "unknown" "NC_000015.9" "UD_132465211673" "" "https://www.LOVD.nl/SCAPER" "" "1" "13081" "49855" "611611" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SCAPER_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-28 14:41:06" "00000" "2025-05-05 21:14:00" ## 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}}" "00018453" "SCAPER" "transcript variant 1" "001" "NM_020843.2" "" "NP_065894.2" "" "" "" "-59" "4651" "4203" "77176217" "76640526" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05823" "IDDRP" "intellectual developmental disorder and retinitis pigmentosa (IDDRP)" "AR" "618195" "" "" "" "00006" "2020-08-28 14:39:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SCAPER" "00139" "SCAPER" "04214" "SCAPER" "05823" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00018545" "" "" "" "32" "" "00087" "{PMID:Quadri 2014:25294124}" "" "" "" "Italy" "" "0" "" "" "Sardinians" "" "00265203" "" "" "" "1" "" "00006" "{PMID:Kiselev 2019:31297131}" "" "F" "" "Sweden" "" "0" "" "" "" "Pat" "00309421" "" "" "" "2" "" "00004" "{PMID:Tatour 2017:28794130}, {PMID:Sharon 2019:31456290}" "2-generation family, 2 affected sisters" "F" "yes" "Israel" "" "0" "" "" "Muslim Arab" "FamApatII:1" "00309519" "" "" "" "1" "" "00006" "{PMID:Tatour 2017:28794130}" "1-generation family, 1 affected" "F" "" "Spain" "" "0" "" "" "" "FamB" "00309520" "" "" "" "1" "" "00006" "{PMID:Tatour 2017:28794130}" "1-generation family, 1 affected" "M" "" "Spain" "" "0" "" "" "" "FamC" "00387076" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Other" "102" "00387770" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Baloch" "M8500314" "00390402" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001284" "00395565" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0346" "00412660" "" "" "" "1" "" "00000" "{PMID:Tatour 2017:28794130}" "sister of II:1" "F" "yes" "Israel" "" "0" "" "" "Arabic" "FamApatII:1" "00412669" "" "" "" "1" "" "00000" "{PMID:Wormser 2019:30723319}" "pedigree 1" "F" "yes" "Israel" "" "0" "" "" "Bedouin" "P1:V5" "00412670" "" "" "" "1" "" "00000" "{PMID:Wormser 2019:30723319}" "pedigree 1" "M" "yes" "Israel" "" "0" "" "" "Bedouin" "P1:V6" "00412671" "" "" "" "1" "" "00000" "{PMID:Wormser 2019:30723319}" "pedigree 1" "M" "yes" "Israel" "" "0" "" "" "Bedouin" "P1:V7" "00412672" "" "" "" "1" "" "00000" "{PMID:Wormser 2019:30723319}" "pedigree 1" "M" "yes" "Israel" "" "0" "" "" "Bedouin" "P1:V8" "00412673" "" "" "" "1" "" "00000" "{PMID:Wormser 2019:30723319}" "pedigree 2" "F" "yes" "Israel" "" "0" "" "" "Bedouin" "P2:III1" "00412674" "" "" "" "1" "" "00000" "{PMID:Wormser 2019:30723319}" "pedigree 2" "F" "yes" "Israel" "" "0" "" "" "Bedouin" "P2:III2" "00412675" "" "" "" "1" "" "00000" "{PMID:Wormser 2019:30723319}" "pedigree 2" "F" "yes" "Israel" "" "0" "" "" "Bedouin" "P2:III7" "00412676" "" "" "" "1" "" "00000" "{PMID:Wormser 2019:30723319}" "pedigree 2" "M" "yes" "Israel" "" "0" "" "" "Bedouin" "P2:IV1" "00412677" "" "" "" "1" "" "00000" "{PMID:Jauregui 2019:30561111}" "patient\'s paternal grandmother and maternal grandfather are first cousi" "F" "yes" "United States" "" "0" "" "" "Jordanian Arab" "?" "00412709" "" "" "" "1" "" "00000" "{PMID:Fasham 2019:31192531}" "Amish family patient VII:1, brother of VII:5" "M" "yes" "United States" "" "0" "" "" "Amish" "Patient 1" "00412710" "" "" "" "1" "" "00000" "{PMID:Fasham 2019:31192531}" "Amish family patient VII:5, sister of VII:1" "F" "yes" "United States" "" "0" "" "" "Amish" "Patient 2" "00412711" "" "" "" "1" "" "00000" "{PMID:Fasham 2019:31192531}" "" "F" "" "United States" "" "0" "" "" "South Asian" "Patient 3" "00412712" "" "" "" "1" "" "00000" "{PMID:Fasham 2019:31192531}" "" "F" "" "United States" "" "0" "" "" "Caucasian" "Patient 4" "00412713" "" "" "" "1" "" "00000" "{PMID:Fasham 2019:31192531}" "" "F" "" "United States" "" "0" "" "" "" "Patient 5" "00412714" "" "" "" "1" "" "00000" "{PMID:Fasham 2019:31192531}" "" "F" "" "United States" "" "0" "" "" "" "Patient 6" "00412725" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 1" "M" "yes" "" "" "0" "" "" "" "III:6" "00412726" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 1" "F" "yes" "" "" "0" "" "" "" "III:7" "00412727" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 2 (M8500314)" "F" "yes" "" "" "0" "" "" "" "II:1" "00412728" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 2 (M8500314)" "M" "yes" "" "" "0" "" "" "" "II:2" "00412729" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 2 (M8500314)" "M" "yes" "" "" "0" "" "" "" "II:4" "00412730" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 3 (M8600086)" "M" "yes" "" "" "0" "" "" "" "IV:1" "00412731" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 3 (M8600086)" "F" "yes" "" "" "0" "" "" "" "IV:2" "00412732" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 3 (M8600086)" "M" "yes" "" "" "0" "" "" "" "IV:3" "00412733" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 3 (M8600086)" "M" "yes" "" "" "0" "" "" "" "IV:5" "00412734" "" "" "" "1" "" "00000" "{PMID:Kahrizi 2019:31069901}" "Family 4 (D87500)" "F" "yes" "" "" "0" "" "" "" "VI:1" "00426937" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 41, individual 49" "M" "" "" "" "0" "" "" "" "41_49" "00448010" "" "" "" "1" "" "00006" "{PMID:Carss 2017:28041643}" "patient" "F" "" "" "" "0" "" "" "Asia-S" "G001284" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00018545" "00414" "00265203" "05121" "00309421" "04214" "00309519" "00198" "00309520" "00198" "00387076" "04214" "00387770" "00139" "00390402" "04214" "00395565" "04214" "00412660" "04212" "00412669" "04212" "00412670" "04212" "00412671" "04212" "00412672" "04212" "00412673" "04212" "00412674" "04212" "00412675" "04212" "00412676" "04212" "00412677" "04212" "00412709" "04214" "00412710" "04214" "00412711" "04214" "00412712" "04214" "00412713" "04214" "00412714" "04214" "00412725" "04214" "00412726" "04214" "00412727" "04214" "00412728" "04214" "00412729" "04214" "00412730" "04214" "00412731" "04214" "00412732" "04214" "00412733" "04214" "00412734" "04214" "00426937" "04214" "00448010" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00414, 04212, 04214, 05121, 05823 ## Count = 37 "{{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}}" "0000020323" "00414" "00018545" "00087" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000203031" "05121" "00265203" "00006" "Unknown" "53y" "see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy" "44y" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000234741" "04214" "00309421" "00004" "Familial, autosomal recessive" "24y" "15y: best corrected visual acuity right/left eye: 0.5 / 0.2; full field electroretinography (right eye only), light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: normal; additional ocular findings: esotropia and elevation deficiency left eye; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder; 24y: best corrected visual acuity right/left eye: 0.3 / 0.2; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation; additional ocular findings: cataract, secondary glaucoma left eye; cystoid macular edema both eyes" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa- syndromic" "" "0000234839" "00198" "00309519" "00006" "Familial, autosomal recessive" "" "28y: best corrected visual acuity right/left eye: 0.4 / 0.5; full field electroretinography, light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: not done; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation; additional ocular findings: subcapsular posterior cataract subcapsular posterior cataract both eyes, rotational fixation nystagmus both eyes, high myopia, mild astigmatism; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder, alopecia areata; 34y: best corrected visual acuity right/left eye: 0.3 / 0.4" "" "" "" "" "" "" "" "" "IDDRP" "intellectual disability, retinitis pigmentosa" "" "0000234840" "00198" "00309520" "00006" "Familial, autosomal recessive" "15y" "15y: best corrected visual acuity right/left eye: not available; full field electroretinography, light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: abnormal; ophthalmoscopic findings: peripapillary atrophy, attenuated retinal blood vessels, bone-spicule pigmentation; extra-ocular findings: intellectual disability" "" "" "" "" "anna_tracewska" "" "" "" "IDDRP" "intellectual disability, retinitis pigmentosa" "" "0000280854" "04214" "00387076" "00000" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal recessive" "" "" "0000281338" "00139" "00387770" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000283940" "04214" "00390402" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000288763" "04214" "00395565" "00000" "Familial, autosomal recessive" "" "anterior polar and posterior subcapsular cataract, horizontal nystagmus, rod-cone dystrophy, growth hormone deficiency, intellectual disability, gait disturbance, abnormality of the hypothenar eminence, genu valgum, talipes equinovarus, short neck, male hypogonadism, epicanthus, hypertelorism, low-set ears, microretrognathia, narrow palate, abnormality of the nail, dry skin, erythema" "" "" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability, neurodevelopmental and endocrine disorder, dysmoretinitis pigmentosahic features" "" "" "0000304652" "04212" "00412660" "00000" "Familial, autosomal recessive" "23y" "14y: best corrected visual acuity right/left eye: 0.6 / 0.6; full field electroretinography (right eye only), light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: abnormal; additional ocular findings: strabismus both eyes; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder; 23y: best corrected visual acuity right/left eye: 0.1 / 0.1; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304661" "04212" "00412669" "00000" "Familial, autosomal recessive" "34y" "strabismus, uncorrected visual acuity right, left eye: light perception, hand motion; retinitis pigmentosa - nyctalopia 10y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented areas, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 145 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 37.1; genu valgum; varum" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304662" "04212" "00412670" "00000" "Familial, autosomal recessive" "28y" "strabismus, best corrected visual acuity right, left eye: 6/12, 6/12; retinitis pigmentosa - nyctalopia 15y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract and nuclear, punctate; intellectual disability: moderate; short stature: yes, 157 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 31.6; genu valgum; varum" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304663" "04212" "00412671" "00000" "Familial, autosomal recessive" "24y" "strabismus, uncorrected visual acuity: 6/60, 6/120; retinitis pigmentosa - nyctalopia 13y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 163 cm; weight (kg): 98; obesity - calculated BMI kg/m2: 36.9; genu valgum; varum" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304664" "04212" "00412672" "00000" "Familial, autosomal recessive" "17y" "best corrected visual acuity right, left eye: 6/10, 6/10; retinitis pigmentosa - nyctalopia 7y; right eye impression of a few bone spicules in mid-periphery, left eye: no cooperation; intellectual disability: moderate; short stature: yes, 155 cm; weight (kg): 92; obesity - calculated BMI kg/m2: 38.3; genu valgum; varum" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304665" "04212" "00412673" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity: no light perception; retinitis pigmentosa - nyctalopia 20y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse bone spicules, severe maculopathy, mild cortical cataract; intellectual disability: severe; short stature: yes, 146 cm; weight (kg): 86.6; obesity - calculated BMI kg/m2: 40.6; genu valgum: unknown; varum" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304666" "04212" "00412674" "00000" "Familial, autosomal recessive" "47y" "strabismus, best corrected visual acuity right, left eye: hand motion 15cm, light perception; retinitis pigmentosa - nyctalopia 28y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse coarse pigment clumps &bone spicules, macular edema, mild posterior subcapsular cataract; intellectual disability: severe; short stature: yes, 149 cm; weight (kg): 62; obesity - calculated BMI kg/m2: no, but overweight - 27.9; genu valgum; varum" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304667" "04212" "00412675" "00000" "Familial, autosomal recessive" "29y" "uncorrected visual acuity: 6/21, 6/21; retinitis pigmentosa - nyctalopia 25y; bone spicules in mid-periphery, granular appearance in the posterior pole; intellectual disability: severe; short stature: yes, 132 cm; weight (kg): 57.8; obesity - calculated BMI kg/m2: 33.2; genu valgum: unknown; varum" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304668" "04212" "00412676" "00000" "Familial, autosomal recessive" "10y" "suspected retinitis pigmentosa - fixes and follows objects, small optic disk with mild pallor, grayish retinal discoloration in mid-periphery; intellectual disability: moderate; short stature: yes, percentile 3-5% (129 cm; weight (kg): 29.5 (percentile 25-50%); obesity - calculated BMI kg/m2: BMI-for-age at the 68th percentile; genu valgum; varum" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304669" "04212" "00412677" "00000" "Familial, autosomal recessive" "11y" "absence of intellectual disability and attention-deficit/hyperactivity disorder; best corrected visual acuity right, left eye: 20/40, 20/25; fundus: pale optic disc and no cystoid macular edema bilaterally; bilateral bone-spicule intraretinal pigment migration mainly in the superior and nasal fields, with peripheral retinal atrophy; macular spectral domain optical coherence tomography: peripheral thinning of the retina, affecting mainly the outer nuclear layer, disruption of the ellipsoid zone line in the periphery, while it was conserved in the foveal area; foveal border flattened and enlarged; fundus autofluorescence: peripheral atrophy along with the presence of a hyperautofluorescent ring in the foveal area commonly observed in retinitis pigmentosa patients; scotopic rod-specific and maximal responses full field electroretinogram: undetectable in both eyes; photopic 30 Hz-flicker amplitudes markedly subnormal bilaterally" "9y" "" "night vision problems" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304700" "04214" "00412709" "00000" "Familial, autosomal recessive" "13y8m" "weight (kg, standard deviation scores): 68.9 (+1.9); height (cm, standard deviation scores): 166.3 (+0.7); occipitofrontal circumference: 56.4 (+0.39); body mass index: 24.9 (+2.0); walking: 24m; speech delay: yes; intellectual disability: moderate; behavior: hyperactivity; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly; other clinical findings: proximally placed thumbs, short fifth fingers, pes planus, frontal bossing, almond-shaped eyes, and inverted nipples" "" "" "" "" "" "" "" "" "syndromic intellectual disability with retinitis pigmentosa" "" "" "0000304701" "04214" "00412710" "00000" "Familial, autosomal recessive" "1y6m" "weight (kg, standard deviation scores): 8.6 (−2.2); height (cm, standard deviation scores): 78.5 (−0.7); occipitofrontal circumference: 47 (−0.92); body mass index: 14 (−2.5); walking: 22m; speech delay: yes; intellectual disability: mild; behavior: hyperactivity; neuroimaging: not available; retinitis pigmentosa; brachydactyly; other clinical findings: proximally placed thumbs, short fifth fingers, pes planus, frontal bossing, almond-shaped eyes, and inverted" "" "" "" "" "" "" "" "" "syndromic intellectual disability with retinitis pigmentosa" "" "" "0000304702" "04214" "00412711" "00000" "Familial, autosomal recessive" "28y" "weight (kg, standard deviation scores): 25th centile; height (cm, standard deviation scores): 3rd centile; occipitofrontal circumference: not available; body mass index: not available; walking: 11m; speech delay: yes; intellectual disability: moderate; behavior: attention-deficit hyperactivity disorder; autism, and self-harm ; retinitis pigmentosa; brachydactyly: not available" "" "" "" "" "" "" "" "" "syndromic intellectual disability with retinitis pigmentosa" "" "" "0000304703" "04214" "00412712" "00000" "Familial, autosomal recessive" "31y" "weight (kg, standard deviation scores): not available; height (cm, standard deviation scores): not available; occipitofrontal circumference: 57 (95th centile); body mass index: not available; walking: 15m; speech delay: yes; intellectual disability: mild; behavior: dyspraxia; neuroimaging: not performed; retinitis pigmentosa; brachydactyly: not available" "" "" "" "" "" "" "" "" "syndromic intellectual disability with retinitis pigmentosa" "" "" "0000304704" "04214" "00412713" "00000" "Familial, autosomal recessive" "17y" "weight (kg, standard deviation scores): not available; height (cm, standard deviation scores): not available; occipitofrontal circumference: not available; body mass index: obese; walking: not available; speech delay: not available ; intellectual disability: yes; behavior: not available; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly: not available" "" "" "" "" "" "" "" "" "syndromic intellectual disability with retinitis pigmentosa" "" "" "0000304705" "04214" "00412714" "00000" "Familial, autosomal recessive" "24y" "weight (kg, standard deviation scores): 63.6 (+0.6); height (cm, standard deviation scores): 162.6 (−0.2); occipitofrontal circumference: not available; body mass index: 24 (+0.63); walking: 15-18m; speech delay: Yes; intellectual disability: mild (IQ 50-60); behavior: attention-deficit hyperactivity disorder; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly: not available; other clinical findings: moderate eczema with severe skin-picki" "" "" "" "" "" "" "" "" "syndromic intellectual disability with retinitis pigmentosa" "" "" "0000304716" "04214" "00412725" "00000" "Familial, autosomal recessive" "18y" "postnatal growth HC (cm): 32; height (cm): 46; birth weight (g): 2280; hc (cm): 55; height (cm): 158; weight (kg): 42; facial appearance: prominent nose, narrow chin, high forehead; development: head control (m): not available; sitting (m): 7; standing (m): not available; walking: 1y9m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 50; gait disturbance: yes; hypotonia: yes; behavior: attention deficit hyperactivity disorder: no; self-injury: yes; eyes, strabismus: no; myopia: yes; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: syndactyly; skin involvement: no; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304717" "04214" "00412726" "00000" "Familial, autosomal recessive" "12y" "postnatal growth HC (cm): not available; height (cm): not available; birth weight (g): not available; hc (cm): 55; height (cm): 150; weight (kg): 43.5; facial appearance: prominent nose, narrow chin, high forehead; development: head control (m): not available; sitting (m): 8���9; standing (m): not available; walking: 1y9m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 67; gait disturbance: ; hypotonia: ; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: yes; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; magnetic resonance imagi" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304718" "04214" "00412727" "00000" "Familial, autosomal recessive" "34y" "postnatal growth HC (cm): 35; height (cm): 50; birth weight (g): 2500; hc (cm): 52.5; height (cm): 152; weight (kg): not available; facial appearance: prominent maxilla, micrognathia; development: head control (m): 8; sitting (m): 12; standing (m): 24; walking: 3y; speaking: 4y; seizures: yes; medication response: yes; cognitive impairment: yes; intelligent qotient (IQ): 31; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304719" "04214" "00412728" "00000" "Familial, autosomal recessive" "32y" "postnatal growth HC (cm): 34; height (cm): 48; birth weight (g): 2800; hc (cm): 51; height (cm): 160; weight (kg): not available; facial appearance: prominent maxilla, micrognathia; development: head control (m): 8; sitting (m): 13; standing (m): 24; walking: 3y; speaking: 4y; seizures: yes; medication response: yes; cognitive impairment: yes; intelligent qotient (IQ): 30; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: yes; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304720" "04214" "00412729" "00000" "Familial, autosomal recessive" "26y" "postnatal growth HC (cm): 35; height (cm): 51; birth weight (g): 3400; hc (cm): 55; height (cm): 172; weight (kg): not available; facial appearance: prominent maxilla; development: head control (m): ; sitting (m): ; standing (m): 20; walking: 3y; speaking: 3y; seizures: yes; medication response: yes; cognitive impairment: yes; intelligent qotient (IQ): 34; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304721" "04214" "00412730" "00000" "Familial, autosomal recessive" "32y" "postnatal growth HC (cm): not available; height (cm): not available; birth weight (g): not available; hc (cm): 57.5; height (cm): 164; weight (kg): not available; development: head control (m): 4; sitting (m): 8; standing (m): 11; walking: 2y6m; speaking: 2Y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 40; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: yes; myopia: no; vision impairment: night blindness; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: vitiligo ; speech: yes; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304722" "04214" "00412731" "00000" "Familial, autosomal recessive" "12y" "postnatal growth HC (cm): 34; height (cm): 49; birth weight (g): 3000; hc (cm): 55; height (cm): 145; weight (kg): 40; development: head control (m): 5; sitting (m): 10; standing (m): 12; walking: 1y6m; speaking: 18m; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 45; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: night blindness; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: yes; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304723" "04214" "00412732" "00000" "Familial, autosomal recessive" "20y" "postnatal growth HC (cm): 35; height (cm): 50; birth weight (g): 3200; hc (cm): 57.5; height (cm): 163; weight (kg): not available; development: head control (m): 4; sitting (m): 8; standing (m): 11; walking: 12m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 50; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: yes; myopia: no; vision impairment: night blindness; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: yes; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304724" "04214" "00412733" "00000" "Familial, autosomal recessive" "25y" "postnatal growth HC (cm): 35; height (cm): 49; birth weight (g): 3500; hc (cm): 52.5; height (cm): 164; weight (kg): not available; development: head control (m): 4; sitting (m): 9; standing (m): 12; walking: 1y1m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 40; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: ; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000304725" "04214" "00412734" "00000" "Familial, autosomal recessive" "7y" "postnatal growth HC (cm): 35; height (cm): 49; birth weight (g): 2400; hc (cm): 49; height (cm): 112; weight (kg): 15; facial appearance: epicanthal fold, upslanting palpebral fissure, small mouth, low set ears; development: head control (m): 6; sitting (m): 8; standing (m): 24; walking: 2y6m; speaking: 3y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 60; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "" "0000318075" "04214" "00426937" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000337199" "04214" "00448010" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000018529" "00018545" "1" "00087" "00087" "2014-07-21 14:37:46" "" "" "SEQ;SEQ-NG-I;TaqMan" "DNA" "" "" "0000266323" "00265203" "1" "00006" "00006" "2019-09-14 13:39:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000310566" "00309421" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310664" "00309519" "1" "00006" "00006" "2020-08-28 14:59:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310665" "00309520" "1" "00006" "00006" "2020-08-28 14:59:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388302" "00387076" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000389001" "00387770" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391643" "00390402" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000396803" "00395565" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000413930" "00412660" "1" "00000" "03840" "2022-07-01 20:13:43" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000413939" "00412669" "1" "00000" "03840" "2022-07-02 09:23:50" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "" "0000413940" "00412670" "1" "00000" "03840" "2022-07-02 09:23:50" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000413941" "00412671" "1" "00000" "03840" "2022-07-02 09:23:50" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000413942" "00412672" "1" "00000" "03840" "2022-07-02 09:23:50" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "" "0000413943" "00412673" "1" "00000" "03840" "2022-07-02 09:23:50" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "" "0000413944" "00412674" "1" "00000" "03840" "2022-07-02 09:23:50" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "" "0000413945" "00412675" "1" "00000" "03840" "2022-07-02 09:23:50" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "" "0000413946" "00412676" "1" "00000" "03840" "2022-07-02 09:23:50" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000413947" "00412677" "1" "00000" "03840" "2022-07-02 09:42:18" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000413979" "00412709" "1" "00000" "03840" "2022-07-03 11:35:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing or whole genome sequencing" "0000413980" "00412710" "1" "00000" "03840" "2022-07-03 11:35:57" "" "" "SEQ" "DNA" "blood" "" "0000413981" "00412711" "1" "00000" "03840" "2022-07-03 11:35:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing or whole genome sequencing" "0000413982" "00412712" "1" "00000" "03840" "2022-07-03 11:35:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing or whole genome sequencing" "0000413983" "00412713" "1" "00000" "03840" "2022-07-03 11:35:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing or whole genome sequencing" "0000413984" "00412714" "1" "00000" "03840" "2022-07-03 11:35:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing or whole genome sequencing" "0000413995" "00412725" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;PCRq" "DNA" "blood" "whole-exome sequencing" "0000413996" "00412726" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;PCRq" "DNA" "blood" "whole-exome sequencing" "0000413997" "00412727" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000413998" "00412728" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000413999" "00412729" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000414000" "00412730" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000414001" "00412731" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000414002" "00412732" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000414003" "00412733" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000414004" "00412734" "1" "00000" "03840" "2022-07-03 11:37:35" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000428257" "00426937" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000449583" "00448010" "1" "00006" "00006" "2024-02-09 18:12:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000018529" "SCAPER" "0000266323" "MYOF" "0000310566" "SCAPER" "0000310664" "SCAPER" "0000310665" "SCAPER" "0000388302" "SCAPER" "0000389001" "SCAPER" "0000391643" "SCAPER" "0000396803" "SCAPER" "0000413930" "SCAPER" "0000413939" "SCAPER" "0000413940" "SCAPER" "0000413941" "SCAPER" "0000413942" "SCAPER" "0000413943" "SCAPER" "0000413944" "SCAPER" "0000413945" "SCAPER" "0000413946" "SCAPER" "0000413947" "SCAPER" "0000413979" "SCAPER" "0000413980" "SCAPER" "0000413981" "SCAPER" "0000413982" "SCAPER" "0000413983" "SCAPER" "0000413984" "SCAPER" "0000413995" "SCAPER" "0000413996" "SCAPER" "0000413997" "SCAPER" "0000413998" "SCAPER" "0000413999" "SCAPER" "0000414000" "SCAPER" "0000414001" "SCAPER" "0000414002" "SCAPER" "0000414003" "SCAPER" "0000414004" "SCAPER" "0000428257" "CNGB1" ## 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}}" "0000038995" "0" "50" "15" "76673956" "76673956" "subst" "0.000674525" "00087" "SCAPER_000001" "g.76673956C>T" "" "{PMID:Quadri 2014:25294124}" "" "" "" "Germline" "" "rs199859385" "0" "" "" "g.76381615C>T" "" "VUS" "" "0000249202" "0" "10" "15" "77176200" "77176200" "subst" "0.302526" "02325" "SCAPER_000008" "g.77176200A>T" "" "" "" "SCAPER(NM_020843.4):c.-42T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76883859A>T" "" "benign" "" "0000297906" "0" "10" "15" "77087785" "77087785" "subst" "0.346287" "02325" "SCAPER_000006" "g.77087785T>C" "" "" "" "SCAPER(NM_001145923.2):c.-286-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76795444T>C" "" "benign" "" "0000297907" "0" "10" "15" "77176158" "77176158" "subst" "0.308838" "02325" "SCAPER_000007" "g.77176158T>C" "" "" "" "SCAPER(NM_020843.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76883817T>C" "" "benign" "" "0000297908" "0" "10" "15" "76726465" "76726465" "subst" "0.35343" "02325" "SCAPER_000003" "g.76726465G>T" "" "" "" "SCAPER(NM_001145923.2):c.2527C>A (p.P843T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76434124G>T" "" "benign" "" "0000297909" "0" "10" "15" "76673716" "76673716" "subst" "0.370627" "02325" "SCAPER_000002" "g.76673716T>C" "" "" "" "SCAPER(NM_001145923.2):c.2967+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76381375T>C" "" "benign" "" "0000307725" "0" "50" "15" "77046146" "77046146" "subst" "0" "01943" "SCAPER_000005" "g.77046146T>C" "" "" "" "SCAPER(NM_001145923.1):c.1128+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76753805T>C" "" "VUS" "" "0000555521" "0" "50" "15" "76643631" "76643631" "subst" "0" "01943" "SCAPER_000009" "g.76643631T>C" "" "" "" "SCAPER(NM_001145923.1):c.3310-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76351290T>C" "" "VUS" "" "0000555524" "0" "30" "15" "76697016" "76697016" "subst" "1.23002E-5" "01804" "SCAPER_000011" "g.76697016C>T" "" "" "" "SCAPER(NM_001145923.1):c.2578G>A (p.(Val860Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76404675C>T" "" "likely benign" "" "0000555528" "0" "30" "15" "77067338" "77067338" "subst" "4.06494E-6" "01804" "SCAPER_000015" "g.77067338C>T" "" "" "" "SCAPER(NM_001145923.1):c.155G>A (p.(Ser52Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76774997C>T" "" "likely benign" "" "0000596979" "0" "50" "15" "76958046" "76958046" "subst" "4.78204E-5" "00006" "SCAPER_000019" "g.76958046G>A" "" "{PMID:Kiselev 2019:31297131}" "" "" "" "Germline" "" "rs772597677" "0" "" "" "g.76665705G>A" "" "VUS" "" "0000615539" "0" "10" "15" "76646455" "76646455" "subst" "0.00113923" "02330" "SCAPER_000020" "g.76646455G>C" "" "" "" "SCAPER(NM_001353009.2):c.3900C>G (p.P1300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76354114G>C" "" "benign" "" "0000615540" "0" "10" "15" "76726440" "76726440" "subst" "0.00110154" "02330" "SCAPER_000021" "g.76726440T>C" "" "" "" "SCAPER(NM_001353009.2):c.3308A>G (p.N1103S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76434099T>C" "" "benign" "" "0000615541" "0" "30" "15" "77025743" "77025743" "subst" "0.0068818" "02330" "SCAPER_000022" "g.77025743A>G" "" "" "" "SCAPER(NM_001353009.2):c.1885-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76733402A>G" "" "likely benign" "" "0000657662" "0" "10" "15" "77025588" "77025588" "subst" "0.0019005" "02330" "SCAPER_000023" "g.77025588T>A" "" "" "" "SCAPER(NM_001353009.2):c.2022A>T (p.A674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76733247T>A" "" "benign" "" "0000657663" "0" "30" "15" "77046287" "77046287" "subst" "0.000836448" "02330" "SCAPER_000024" "g.77046287C>T" "" "" "" "SCAPER(NM_001353009.1):c.1746G>A (p.E582=), SCAPER(NM_001353009.2):c.1746G>A (p.E582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76753946C>T" "" "likely benign" "" "0000657664" "0" "30" "15" "77087670" "77087670" "subst" "0" "01943" "SCAPER_000025" "g.77087670G>C" "" "" "" "SCAPER(NM_001353009.1):c.723C>G (p.P241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76795329G>C" "" "likely benign" "" "0000680293" "0" "30" "15" "76668547" "76668547" "subst" "0.000300725" "01943" "SCAPER_000026" "g.76668547T>C" "" "" "" "SCAPER(NM_001353009.1):c.3829A>G (p.I1277V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680294" "0" "90" "15" "77020934" "77020934" "subst" "0" "01943" "SCAPER_000027" "g.77020934A>C" "" "" "" "SCAPER(NM_001353009.1):c.2183+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680295" "0" "30" "15" "77064249" "77064249" "subst" "0.00050649" "01943" "SCAPER_000028" "g.77064249C>T" "" "" "" "SCAPER(NM_001353009.1):c.1082G>A (p.R361Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680296" "0" "30" "15" "77134138" "77134138" "subst" "0.000239845" "01943" "SCAPER_000029" "g.77134138A>C" "" "" "" "SCAPER(NM_001353009.1):c.330T>G (p.L110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685477" "3" "90" "15" "77021080" "77021080" "subst" "0" "00006" "SCAPER_000030" "g.77021080T>C" "1/2420 IRD families" "{PMID:Tatour 2017:28794130}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000685585" "3" "90" "15" "76763655" "76763658" "del" "0" "00006" "SCAPER_000031" "g.76763655_76763658del" "" "{PMID:Tatour 2017:28794130}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000685586" "21" "70" "15" "76673768" "76673768" "subst" "4.06815E-6" "00006" "SCAPER_000032" "g.76673768C>T" "" "{PMID:Tatour 2017:28794130}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000685587" "2" "70" "15" "77046154" "77046156" "del" "0" "00006" "SCAPER_000033" "g.77046154_77046156del" "" "{PMID:Tatour 2017:28794130}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000691868" "0" "30" "15" "76673808" "76673808" "subst" "0.00214807" "01943" "SCAPER_000034" "g.76673808C>T" "" "" "" "SCAPER(NM_001353009.1):c.3634G>A (p.E1212K), SCAPER(NM_001353009.2):c.3634G>A (p.E1212K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691869" "0" "30" "15" "77046287" "77046287" "subst" "0.000836448" "01943" "SCAPER_000024" "g.77046287C>T" "" "" "" "SCAPER(NM_001353009.1):c.1746G>A (p.E582=), SCAPER(NM_001353009.2):c.1746G>A (p.E582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691870" "0" "50" "15" "77067254" "77067254" "subst" "0.00197768" "01943" "SCAPER_000035" "g.77067254T>C" "" "" "" "SCAPER(NM_001353009.1):c.977A>G (p.E326G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725305" "0" "30" "15" "76668545" "76668545" "subst" "4.06379E-6" "01943" "SCAPER_000036" "g.76668545G>A" "" "" "" "SCAPER(NM_001353009.1):c.3831C>T (p.I1277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725306" "0" "50" "15" "76673928" "76673928" "subst" "0.00198627" "01943" "SCAPER_000037" "g.76673928G>C" "" "" "" "SCAPER(NM_001353009.1):c.3514C>G (p.Q1172E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725307" "0" "30" "15" "76866632" "76866632" "subst" "0.000128208" "01943" "SCAPER_000038" "g.76866632T>C" "" "" "" "SCAPER(NM_001353009.1):c.2730-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725308" "0" "50" "15" "77059407" "77059407" "subst" "4.68314E-6" "01943" "SCAPER_000039" "g.77059407T>C" "" "" "" "SCAPER(NM_001353009.1):c.1289A>G (p.K430R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725309" "0" "70" "15" "77092605" "77092605" "subst" "4.0784E-6" "02329" "SCAPER_000016" "g.77092605G>A" "" "" "" "SCAPER(NM_020843.4):c.595C>T (p.R199*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806922" "0" "30" "15" "76673808" "76673808" "subst" "0.00214807" "02330" "SCAPER_000034" "g.76673808C>T" "" "" "" "SCAPER(NM_001353009.1):c.3634G>A (p.E1212K), SCAPER(NM_001353009.2):c.3634G>A (p.E1212K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806923" "0" "50" "15" "76958034" "76958034" "subst" "0" "02330" "SCAPER_000040" "g.76958034T>A" "" "" "" "SCAPER(NM_001353009.2):c.2623A>T (p.K875*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806924" "0" "90" "15" "76994192" "76994193" "del" "0" "01943" "SCAPER_000041" "g.76994192_76994193del" "" "" "" "SCAPER(NM_001353009.1):c.2435_2436delAT (p.Y812Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806925" "0" "50" "15" "77025674" "77025674" "subst" "0" "01943" "SCAPER_000042" "g.77025674C>T" "" "" "" "SCAPER(NM_001353009.1):c.1936G>A (p.D646N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806926" "0" "50" "15" "77057799" "77057799" "subst" "2.04012E-5" "01943" "SCAPER_000043" "g.77057799T>C" "" "" "" "SCAPER(NM_001353009.1):c.1514-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806927" "0" "30" "15" "77067334" "77067334" "subst" "2.43914E-5" "01943" "SCAPER_000044" "g.77067334A>C" "" "" "" "SCAPER(NM_001353009.1):c.897T>G (p.D299E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816762" "3" "70" "15" "77021080" "77021080" "subst" "0" "00000" "SCAPER_000030" "g.77021080T>C" "" "{PMID:Jauregui 2020:32098976}" "" "SCAPER c.2023-2A>G, p.(?)" "homozygous" "Unknown" "?" "" "0" "" "" "g.76728739T>C" "" "likely pathogenic" "" "0000817794" "3" "90" "15" "77064235" "77064235" "subst" "4.07837E-6" "00006" "SCAPER_000045" "g.77064235G>A" "" "{PMID:Hu 2019:29302074}" "" "NM_001145923:c.358C>T" "" "Germline" "" "" "0" "" "" "g.76771894G>A" "" "pathogenic (recessive)" "ACMG" "0000821393" "0" "90" "15" "77064215" "77064215" "del" "0" "00000" "SCAPER_000047" "g.77064215del" "" "{PMID:Turro 2020:32581362}" "" "SCAPER c.1116delT, p.Val373SerfsTer21" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.76771874del" "" "pathogenic" "" "0000821603" "0" "90" "15" "76998312" "76998312" "subst" "0" "00000" "SCAPER_000046" "g.76998312G>A" "" "{PMID:Turro 2020:32581362}" "" "SCAPER c.2179C>T, p.Arg727Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.76705971G>A" "" "pathogenic" "" "0000828481" "2" "70" "15" "76958034" "76958034" "subst" "0" "00000" "SCAPER_000040" "g.76958034T>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "SCAPER, c.2605A>T, p.Lys869*, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.76665693T>A" "" "likely pathogenic" "ACMG" "0000828482" "1" "70" "15" "77025697" "77025697" "subst" "0" "00000" "SCAPER_000048" "g.77025697A>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "SCAPER, c.1895T>C, p.Leu632Pro, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.76733356A>G" "" "likely pathogenic" "ACMG" "0000854182" "0" "30" "15" "76914159" "76914159" "subst" "0.00384983" "02330" "SCAPER_000049" "g.76914159T>A" "" "" "" "SCAPER(NM_001353009.1):c.2675A>T (p.Y892F), SCAPER(NM_001353009.2):c.2675A>T (p.Y892F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854183" "0" "50" "15" "76914159" "76914159" "subst" "0.00384983" "01943" "SCAPER_000049" "g.76914159T>A" "" "" "" "SCAPER(NM_001353009.1):c.2675A>T (p.Y892F), SCAPER(NM_001353009.2):c.2675A>T (p.Y892F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854184" "0" "30" "15" "76995269" "76995269" "subst" "0.00388927" "01943" "SCAPER_000050" "g.76995269C>T" "" "" "" "SCAPER(NM_001353009.1):c.2340G>A (p.G780=), SCAPER(NM_001353009.2):c.2340G>A (p.G780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854185" "0" "50" "15" "76998276" "76998276" "subst" "8.33343E-5" "01943" "SCAPER_000051" "g.76998276T>C" "" "" "" "SCAPER(NM_001353009.1):c.2233A>G (p.M745V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863966" "0" "30" "15" "77057926" "77057926" "subst" "0" "01943" "SCAPER_000052" "g.77057926G>A" "" "" "" "SCAPER(NM_001353009.1):c.1491C>T (p.N497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863967" "0" "50" "15" "77059297" "77059299" "del" "0" "02330" "SCAPER_000053" "g.77059297_77059299del" "" "" "" "SCAPER(NM_001353009.2):c.1399_1401delGAT (p.D467del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863968" "0" "30" "15" "77067392" "77067392" "subst" "0.000443129" "01943" "SCAPER_000054" "g.77067392G>A" "" "" "" "SCAPER(NM_001353009.1):c.839C>T (p.A280V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863969" "0" "30" "15" "77096999" "77096999" "dup" "0" "02330" "SCAPER_000055" "g.77096999dup" "" "" "" "SCAPER(NM_001353009.2):c.394-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871512" "3" "90" "15" "77021080" "77021080" "subst" "0" "00000" "SCAPER_000030" "g.77021080T>C" "" "{PMID:Tatour 2017:28794130}" "" "SCAPER c.2023-2A>G, p.?" "homozygous; splicing change confirmed" "Germline" "yes" "" "0" "" "" "g.76728739T>C" "" "pathogenic (recessive)" "" "0000871522" "3" "70" "15" "76866533" "76866533" "del" "0" "00000" "SCAPER_000058" "g.76866533del" "" "{PMID:Wormser 2019:30723319}" "" "SCAPER c.2806delC, p.L936*" "homozygous" "Germline" "yes" "" "0" "" "" "g.76574192del" "" "likely pathogenic (recessive)" "" "0000871523" "3" "70" "15" "76866533" "76866533" "del" "0" "00000" "SCAPER_000058" "g.76866533del" "" "{PMID:Wormser 2019:30723319}" "" "SCAPER c.2806delC, p.L936*" "homozygous" "Germline" "yes" "" "0" "" "" "g.76574192del" "" "likely pathogenic (recessive)" "" "0000871524" "3" "70" "15" "76866533" "76866533" "del" "0" "00000" "SCAPER_000058" "g.76866533del" "" "{PMID:Wormser 2019:30723319}" "" "SCAPER c.2806delC, p.L936*" "homozygous" "Germline" "yes" "" "0" "" "" "g.76574192del" "" "likely pathogenic (recessive)" "" "0000871525" "3" "70" "15" "76866533" "76866533" "del" "0" "00000" "SCAPER_000058" "g.76866533del" "" "{PMID:Wormser 2019:30723319}" "" "SCAPER c.2806delC, p.L936*" "homozygous" "Germline" "yes" "" "0" "" "" "g.76574192del" "" "likely pathogenic (recessive)" "" "0000871526" "3" "70" "15" "76866533" "76866533" "del" "0" "00000" "SCAPER_000058" "g.76866533del" "" "{PMID:Wormser 2019:30723319}" "" "SCAPER c.2806delC, p.L936*" "homozygous" "Germline" "yes" "" "0" "" "" "g.76574192del" "" "likely pathogenic (recessive)" "" "0000871527" "3" "70" "15" "76866533" "76866533" "del" "0" "00000" "SCAPER_000058" "g.76866533del" "" "{PMID:Wormser 2019:30723319}" "" "SCAPER c.2806delC, p.L936*" "homozygous" "Germline" "yes" "" "0" "" "" "g.76574192del" "" "likely pathogenic (recessive)" "" "0000871528" "3" "70" "15" "76866533" "76866533" "del" "0" "00000" "SCAPER_000058" "g.76866533del" "" "{PMID:Wormser 2019:30723319}" "" "SCAPER c.2806delC, p.L936*" "homozygous" "Germline" "yes" "" "0" "" "" "g.76574192del" "" "likely pathogenic (recessive)" "" "0000871529" "3" "70" "15" "76866533" "76866533" "del" "0" "00000" "SCAPER_000058" "g.76866533del" "" "{PMID:Wormser 2019:30723319}" "" "SCAPER c.2806delC, p.L936*" "homozygous" "Germline" "yes" "" "0" "" "" "g.76574192del" "" "likely pathogenic (recessive)" "" "0000871530" "3" "90" "15" "77021080" "77021080" "subst" "0" "00000" "SCAPER_000030" "g.77021080T>C" "" "{PMID:Jauregui 2019:30561111}" "" "SCAPER c.2023-2A>G" "homozygous" "Germline" "yes" "" "0" "" "" "g.76728739T>C" "" "pathogenic (recessive)" "" "0000871562" "3" "90" "15" "76998261" "76998261" "dup" "0" "00000" "SCAPER_000060" "g.76998261dup" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.2236dupA, p.(Ile746Asnfs*6)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76705920dup" "" "pathogenic (recessive)" "" "0000871563" "3" "90" "15" "76998261" "76998261" "dup" "0" "00000" "SCAPER_000060" "g.76998261dup" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.2236dupA, p.(Ile746Asnfs*6)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76705920dup" "" "pathogenic (recessive)" "" "0000871564" "1" "90" "15" "76998312" "76998312" "subst" "0" "00000" "SCAPER_000046" "g.76998312G>A" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.2179C>T, p.(Arg727*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76705971G>A" "" "pathogenic (recessive)" "" "0000871565" "1" "90" "15" "77057903" "77057903" "subst" "0" "00000" "SCAPER_000064" "g.77057903C>T" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.1495+1G>A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76765562C>T" "" "pathogenic (recessive)" "" "0000871566" "1" "90" "15" "77067402" "77067402" "subst" "0" "00000" "SCAPER_000066" "g.77067402G>A" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.829C>T, p.(Arg277*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76775061G>A" "" "pathogenic (recessive)" "" "0000871567" "1" "90" "15" "76995214" "76995214" "subst" "0" "00000" "SCAPER_000059" "g.76995214G>A" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.2377C>T, p.(Gln793*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76702873G>A" "" "pathogenic (recessive)" "" "0000871568" "2" "90" "15" "77064215" "77064215" "del" "0" "00000" "SCAPER_000047" "g.77064215del" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.1116delT, p.(Val373Serfs*21)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76771874del" "" "pathogenic (recessive)" "" "0000871569" "2" "90" "15" "76726507" "76726507" "del" "0" "00000" "SCAPER_000057" "g.76726507del" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.3224delC, p.(Pro1075Glnfs*11)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76434166del" "" "pathogenic (recessive)" "" "0000871570" "2" "90" "15" "76668651" "76668652" "del" "0" "00000" "SCAPER_000056" "g.76668651_76668652del" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.3707_3708delCT, p.(Ser1236Tyrfs*28)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76376310_76376311del" "" "pathogenic (recessive)" "" "0000871571" "2" "90" "15" "76998328" "76998328" "subst" "0" "00000" "SCAPER_000061" "g.76998328G>C" "" "{PMID:Fasham 2019:31192531}" "" "SCAPER c.2166-3C>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76705987G>C" "" "pathogenic (recessive)" "" "0000871582" "3" "70" "15" "77018886" "77028490" "del" "0" "00000" "SCAPER_000062" "g.77018886_77028490del" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER g.77018886_77028490del, del exon 15&16" "homozygous" "Germline" "yes" "" "0" "" "" "g.76726545_76736149del" "" "likely pathogenic (recessive)" "" "0000871583" "3" "70" "15" "77018886" "77028490" "del" "0" "00000" "SCAPER_000062" "g.77018886_77028490del" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER g.77018886_77028490del, del exon 15&16" "homozygous" "Germline" "yes" "" "0" "" "" "g.76726545_76736149del" "" "likely pathogenic (recessive)" "" "0000871584" "3" "90" "15" "77064235" "77064235" "subst" "4.07837E-6" "00000" "SCAPER_000045" "g.77064235G>A" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER c.1096C>T, p.[Arg366*]" "homozygous" "Germline" "yes" "" "0" "" "" "g.76771894G>A" "" "pathogenic (recessive)" "ACMG" "0000871585" "3" "90" "15" "77064235" "77064235" "subst" "4.07837E-6" "00000" "SCAPER_000045" "g.77064235G>A" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER c.1096C>T, p.[Arg366*]" "homozygous" "Germline" "yes" "" "0" "" "" "g.76771894G>A" "" "pathogenic (recessive)" "ACMG" "0000871586" "3" "90" "15" "77064235" "77064235" "subst" "4.07837E-6" "00000" "SCAPER_000045" "g.77064235G>A" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER c.1096C>T, p.[Arg366*]" "homozygous" "Germline" "yes" "" "0" "" "" "g.76771894G>A" "" "pathogenic (recessive)" "ACMG" "0000871587" "3" "70" "15" "77064239" "77064239" "dup" "0" "00000" "SCAPER_000065" "g.77064239dup" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER c.1092dupT, p.[Val365Cysfs*5]" "homozygous" "Germline" "yes" "" "0" "" "" "g.76771898dup" "" "likely pathogenic (recessive)" "ACMG" "0000871588" "3" "70" "15" "77064239" "77064239" "dup" "0" "00000" "SCAPER_000065" "g.77064239dup" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER c.1092dupT, p.[Val365Cysfs*5]" "homozygous" "Germline" "yes" "" "0" "" "" "g.76771898dup" "" "likely pathogenic (recessive)" "ACMG" "0000871589" "3" "70" "15" "77064239" "77064239" "dup" "0" "00000" "SCAPER_000065" "g.77064239dup" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER c.1092dupT, p.[Val365Cysfs*5]" "homozygous" "Germline" "yes" "" "0" "" "" "g.76771898dup" "" "likely pathogenic (recessive)" "ACMG" "0000871590" "3" "70" "15" "77064239" "77064239" "dup" "0" "00000" "SCAPER_000065" "g.77064239dup" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER c.1092dupT, p.[Val365Cysfs*5]" "homozygous" "Germline" "yes" "" "0" "" "" "g.76771898dup" "" "likely pathogenic (recessive)" "ACMG" "0000871591" "3" "50" "15" "77025709" "77025709" "subst" "0" "00000" "SCAPER_000063" "g.77025709A>C" "" "{PMID:Kahrizi 2019:31069901}" "" "SCAPER c.1883T>G, p.[Phe628Cys]" "homozygous" "Germline" "yes" "" "0" "" "" "g.76733368A>C" "" "VUS" "ACMG" "0000892284" "0" "10" "15" "76696914" "76696914" "subst" "0.00219295" "02330" "SCAPER_000067" "g.76696914C>T" "" "" "" "SCAPER(NM_001353009.2):c.3436G>A (p.A1146T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892285" "0" "10" "15" "76697027" "76697027" "subst" "0.00198154" "02330" "SCAPER_000068" "g.76697027A>G" "" "" "" "SCAPER(NM_001353009.2):c.3330-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892286" "0" "30" "15" "76726556" "76726556" "subst" "2.03095E-5" "02330" "SCAPER_000069" "g.76726556A>G" "" "" "" "SCAPER(NM_001353009.2):c.3192T>C (p.A1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892287" "0" "30" "15" "76763683" "76763683" "subst" "8.75128E-5" "02330" "SCAPER_000070" "g.76763683G>A" "" "" "" "SCAPER(NM_001353009.2):c.2973-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892288" "0" "90" "15" "76914164" "76914164" "del" "0" "02329" "SCAPER_000071" "g.76914164del" "" "" "" "SCAPER(NM_001353009.2):c.2671delG (p.E891Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892289" "0" "30" "15" "76995269" "76995269" "subst" "0.00388927" "02330" "SCAPER_000050" "g.76995269C>T" "" "" "" "SCAPER(NM_001353009.1):c.2340G>A (p.G780=), SCAPER(NM_001353009.2):c.2340G>A (p.G780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905956" "0" "50" "15" "77087768" "77087768" "subst" "0" "00000" "SCAPER_000072" "g.77087768T>A" "" "{PMID:Zhu 2022:35456422}" "" "SCAPER c.625A>T, p.(Thr209Ser)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.76795427T>A" "" "VUS" "ACMG" "0000959999" "1" "70" "15" "76998312" "76998312" "subst" "0" "00006" "SCAPER_000046" "g.76998312G>A" "" "{PMID:Carss 2017:28041643}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.76705971G>A" "" "VUS" "" "0000960015" "2" "70" "15" "77064215" "77064215" "del" "0" "00006" "SCAPER_000047" "g.77064215del" "" "{PMID:Carss 2017:28041643}" "" "1116delT" "candidate disease gene" "Germline" "" "" "0" "" "" "g.76771874del" "" "VUS" "" "0000981426" "0" "30" "15" "76641083" "76641084" "del" "0" "01804" "SCAPER_000073" "g.76641083_76641084del" "" "" "" "SCAPER(NM_020843.4):c.4100-4_4100-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981427" "0" "50" "15" "76995294" "76995294" "subst" "8.26624E-6" "01804" "SCAPER_000074" "g.76995294T>C" "" "" "" "SCAPER(NM_020843.4):c.2297A>G (p.(Glu766Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981428" "0" "30" "15" "77096986" "77096986" "subst" "0.00147887" "02330" "SCAPER_000075" "g.77096986A>C" "" "" "" "SCAPER(NM_001353009.2):c.394-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021175" "0" "50" "15" "76673763" "76673763" "subst" "4.07E-6" "03779" "SCAPER_000076" "g.76673763G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1297546100" "0" "" "" "" "" "VUS" "" "0001026506" "0" "30" "15" "77067396" "77067396" "subst" "0.00166251" "02330" "SCAPER_000077" "g.77067396T>C" "" "" "" "SCAPER(NM_001353009.2):c.835A>G (p.T279A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026507" "0" "30" "15" "77134244" "77134244" "subst" "0.00134623" "02330" "SCAPER_000078" "g.77134244G>A" "" "" "" "SCAPER(NM_001353009.2):c.224C>T (p.S75L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040598" "0" "50" "15" "76646460" "76646460" "subst" "1.6696E-5" "01804" "SCAPER_000079" "g.76646460G>T" "" "" "" "SCAPER(NM_020843.4):c.3877C>A (p.(His1293Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040599" "0" "30" "15" "77143218" "77143218" "del" "0" "01804" "SCAPER_000080" "g.77143218del" "" "" "" "SCAPER(NM_001353011.2):c.-325-8del" "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 SCAPER ## 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}}" "0000038995" "00018453" "50" "3468" "0" "3468" "0" "c.3468G>A" "r.(spl?)" "p.(Arg1156=)" "27" "0000249202" "00018453" "10" "-42" "0" "-42" "0" "c.-42T>A" "r.(?)" "p.(=)" "" "0000297906" "00018453" "10" "612" "-4" "612" "-4" "c.612-4A>G" "r.spl?" "p.?" "" "0000297907" "00018453" "10" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000297908" "00018453" "10" "3265" "0" "3265" "0" "c.3265C>A" "r.(?)" "p.(Pro1089Thr)" "" "0000297909" "00018453" "10" "3705" "3" "3705" "3" "c.3705+3A>G" "r.spl?" "p.?" "" "0000307725" "00018453" "50" "1866" "3" "1866" "3" "c.1866+3A>G" "r.spl?" "p.?" "" "0000555521" "00018453" "50" "4048" "-2" "4048" "-2" "c.4048-2A>G" "r.spl?" "p.?" "" "0000555524" "00018453" "30" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Val1106Met)" "" "0000555528" "00018453" "30" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Ser298Asn)" "" "0000596979" "00018453" "50" "2593" "0" "2593" "0" "c.2593C>T" "r.(?)" "p.(Arg865Trp)" "" "0000615539" "00018453" "10" "3882" "0" "3882" "0" "c.3882C>G" "r.(?)" "p.(Pro1294=)" "" "0000615540" "00018453" "10" "3290" "0" "3290" "0" "c.3290A>G" "r.(?)" "p.(Asn1097Ser)" "" "0000615541" "00018453" "30" "1867" "-18" "1867" "-18" "c.1867-18T>C" "r.(=)" "p.(=)" "" "0000657662" "00018453" "10" "2004" "0" "2004" "0" "c.2004A>T" "r.(?)" "p.(Ala668=)" "" "0000657663" "00018453" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Glu576=)" "" "0000657664" "00018453" "30" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(Pro241=)" "" "0000680293" "00018453" "30" "3811" "0" "3811" "0" "c.3811A>G" "r.(?)" "p.(Ile1271Val)" "" "0000680294" "00018453" "90" "2165" "2" "2165" "2" "c.2165+2T>G" "r.spl?" "p.?" "" "0000680295" "00018453" "30" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Arg361Gln)" "" "0000680296" "00018453" "30" "330" "0" "330" "0" "c.330T>G" "r.(?)" "p.(Leu110=)" "" "0000685477" "00018453" "90" "2023" "-2" "2023" "-2" "c.2023-2A>G" "r.2023_2031del" "p.Glu675_Lys677del" "" "0000685585" "00018453" "90" "2973" "0" "2976" "0" "c.2973_2976del" "r.(?)" "p.(Ile991Metfs*26)" "" "0000685586" "00018453" "70" "3656" "0" "3656" "0" "c.3656G>A" "r.(?)" "p.(Ser1219Asn)" "" "0000685587" "00018453" "70" "1859" "0" "1861" "0" "c.1859_1861del" "r.(?)" "p.(Glu620del)" "" "0000691868" "00018453" "30" "3616" "0" "3616" "0" "c.3616G>A" "r.(?)" "p.(Glu1206Lys)" "" "0000691869" "00018453" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Glu576=)" "" "0000691870" "00018453" "50" "977" "0" "977" "0" "c.977A>G" "r.(?)" "p.(Glu326Gly)" "" "0000725305" "00018453" "30" "3813" "0" "3813" "0" "c.3813C>T" "r.(?)" "p.(Ile1271=)" "" "0000725306" "00018453" "50" "3496" "0" "3496" "0" "c.3496C>G" "r.(?)" "p.(Gln1166Glu)" "" "0000725307" "00018453" "30" "2712" "-7" "2712" "-7" "c.2712-7A>G" "r.(=)" "p.(=)" "" "0000725308" "00018453" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Lys424Arg)" "" "0000725309" "00018453" "70" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Ter)" "" "0000806922" "00018453" "30" "3616" "0" "3616" "0" "c.3616G>A" "r.(?)" "p.(Glu1206Lys)" "" "0000806923" "00018453" "50" "2605" "0" "2605" "0" "c.2605A>T" "r.(?)" "p.(Lys869*)" "" "0000806924" "00018453" "90" "2417" "0" "2418" "0" "c.2417_2418del" "r.(?)" "p.(Tyr806Serfs*3)" "" "0000806925" "00018453" "50" "1918" "0" "1918" "0" "c.1918G>A" "r.(?)" "p.(Asp640Asn)" "" "0000806926" "00018453" "50" "1496" "-4" "1496" "-4" "c.1496-4A>G" "r.spl?" "p.?" "" "0000806927" "00018453" "30" "897" "0" "897" "0" "c.897T>G" "r.(?)" "p.(Asp299Glu)" "" "0000816762" "00018453" "70" "2023" "-2" "2023" "-2" "c.2023-2A>G" "r.(?)" "p.(?)" "" "0000817794" "00018453" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Ter)" "" "0000821393" "00018453" "90" "1116" "0" "1116" "0" "c.1116del" "r.(?)" "p.(Val373Serfs*21)" "" "0000821603" "00018453" "90" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727*)" "" "0000828481" "00018453" "70" "2605" "0" "2605" "0" "c.2605A>T" "r.(?)" "p.(Lys869*)" "" "0000828482" "00018453" "70" "1895" "0" "1895" "0" "c.1895T>C" "r.(?)" "p.(Leu632Pro)" "" "0000854182" "00018453" "30" "2657" "0" "2657" "0" "c.2657A>T" "r.(?)" "p.(Tyr886Phe)" "" "0000854183" "00018453" "50" "2657" "0" "2657" "0" "c.2657A>T" "r.(?)" "p.(Tyr886Phe)" "" "0000854184" "00018453" "30" "2322" "0" "2322" "0" "c.2322G>A" "r.(?)" "p.(Gly774=)" "" "0000854185" "00018453" "50" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Met739Val)" "" "0000863966" "00018453" "30" "1473" "0" "1473" "0" "c.1473C>T" "r.(?)" "p.(Asn491=)" "" "0000863967" "00018453" "50" "1381" "0" "1383" "0" "c.1381_1383del" "r.(?)" "p.(Asp461del)" "" "0000863968" "00018453" "30" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ala280Val)" "" "0000863969" "00018453" "30" "394" "-17" "394" "-17" "c.394-17dup" "r.(=)" "p.(=)" "" "0000871512" "00018453" "90" "2023" "-2" "2023" "-2" "c.2023-2A>G" "r.(?)" "p.?" "" "0000871522" "00018453" "70" "2806" "0" "2806" "0" "c.2806delC" "r.(?)" "p.(Leu936*)" "22" "0000871523" "00018453" "70" "2806" "0" "2806" "0" "c.2806delC" "r.(?)" "p.(Leu936*)" "22" "0000871524" "00018453" "70" "2806" "0" "2806" "0" "c.2806delC" "r.(?)" "p.(Leu936*)" "22" "0000871525" "00018453" "70" "2806" "0" "2806" "0" "c.2806delC" "r.(?)" "p.(Leu936*)" "22" "0000871526" "00018453" "70" "2806" "0" "2806" "0" "c.2806delC" "r.(?)" "p.(Leu936*)" "22" "0000871527" "00018453" "70" "2806" "0" "2806" "0" "c.2806delC" "r.(?)" "p.(Leu936*)" "22" "0000871528" "00018453" "70" "2806" "0" "2806" "0" "c.2806delC" "r.(?)" "p.(Leu936*)" "22" "0000871529" "00018453" "70" "2806" "0" "2806" "0" "c.2806delC" "r.(?)" "p.(Leu936*)" "22" "0000871530" "00018453" "70" "2023" "-2" "2023" "-2" "c.2023-2A>G" "r.(?)" "p.?" "" "0000871562" "00018453" "90" "2236" "0" "2236" "0" "c.2236dupA" "r.(?)" "p.(Ile746Asnfs*6)" "" "0000871563" "00018453" "90" "2236" "0" "2236" "0" "c.2236dupA" "r.(?)" "p.(Ile746Asnfs*6)" "" "0000871564" "00018453" "90" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727*)" "" "0000871565" "00018453" "90" "1495" "1" "1495" "1" "c.1495+1G>A" "r.spl" "p.?" "" "0000871566" "00018453" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "" "0000871567" "00018453" "90" "2377" "0" "2377" "0" "c.2377C>T" "r.(?)" "p.(Gln793*)" "" "0000871568" "00018453" "90" "1116" "0" "1116" "0" "c.1116delT" "r.(?)" "p.(Val373Serfs*21)" "" "0000871569" "00018453" "90" "3224" "0" "3224" "0" "c.3224delC" "r.(?)" "p.(Pro1075Glnfs*11)" "" "0000871570" "00018453" "90" "3707" "0" "3708" "0" "c.3707_3708delCT" "r.(?)" "p.(Ser1236Tyrfs*28)" "" "0000871571" "00018453" "90" "2166" "-3" "2166" "-3" "c.2166-3C>G" "r.spl" "p.?" "" "0000871582" "00018453" "70" "1867" "-2765" "2165" "2050" "c.2165+2050_1867-2765del" "r.(?)" "p.?" "_14_16_" "0000871583" "00018453" "70" "1867" "-2765" "2165" "2050" "c.2165+2050_1867-2765del" "r.(?)" "p.?" "_14_16_" "0000871584" "00018453" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "9" "0000871585" "00018453" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "9" "0000871586" "00018453" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "9" "0000871587" "00018453" "70" "1092" "0" "1092" "0" "c.1092dupT" "r.(?)" "p.(Val365Cysfs*5)" "9" "0000871588" "00018453" "70" "1092" "0" "1092" "0" "c.1092dupT" "r.(?)" "p.(Val365Cysfs*5)" "9" "0000871589" "00018453" "70" "1092" "0" "1092" "0" "c.1092dupT" "r.(?)" "p.(Val365Cysfs*5)" "9" "0000871590" "00018453" "70" "1092" "0" "1092" "0" "c.1092dupT" "r.(?)" "p.(Val365Cysfs*5)" "9" "0000871591" "00018453" "50" "1883" "0" "1883" "0" "c.1883T>G" "r.(?)" "p.(Phe628Cys)" "15" "0000892284" "00018453" "10" "3418" "0" "3418" "0" "c.3418G>A" "r.(?)" "p.(Ala1140Thr)" "" "0000892285" "00018453" "10" "3312" "-7" "3312" "-7" "c.3312-7T>C" "r.(=)" "p.(=)" "" "0000892286" "00018453" "30" "3174" "0" "3174" "0" "c.3174T>C" "r.(?)" "p.(Ala1058=)" "" "0000892287" "00018453" "30" "2955" "-7" "2955" "-7" "c.2955-7C>T" "r.(=)" "p.(=)" "" "0000892288" "00018453" "90" "2653" "0" "2653" "0" "c.2653del" "r.(?)" "p.(Glu885Asnfs*5)" "" "0000892289" "00018453" "30" "2322" "0" "2322" "0" "c.2322G>A" "r.(?)" "p.(Gly774=)" "" "0000905956" "00018453" "50" "625" "0" "625" "0" "c.625A>T" "r.(?)" "p.(Thr209Ser)" "" "0000959999" "00018453" "70" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Ter)" "" "0000960015" "00018453" "70" "1116" "0" "1116" "0" "c.1116del" "r.(?)" "p.(Val373SerfsTer21)" "" "0000981426" "00018453" "30" "4100" "-4" "4100" "-3" "c.4100-4_4100-3del" "r.spl?" "p.?" "" "0000981427" "00018453" "50" "2297" "0" "2297" "0" "c.2297A>G" "r.(?)" "p.(Glu766Gly)" "" "0000981428" "00018453" "30" "394" "-12" "394" "-12" "c.394-12T>G" "r.(=)" "p.(=)" "" "0001021175" "00018453" "50" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "" "0001026506" "00018453" "30" "835" "0" "835" "0" "c.835A>G" "r.(?)" "p.(Thr279Ala)" "" "0001026507" "00018453" "30" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ser75Leu)" "" "0001040598" "00018453" "50" "3877" "0" "3877" "0" "c.3877C>A" "r.(?)" "p.(His1293Asn)" "" "0001040599" "00018453" "30" "195" "6949" "195" "6949" "c.195+6949del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000018529" "0000038995" "0000266323" "0000596979" "0000310566" "0000685477" "0000310664" "0000685585" "0000310665" "0000685586" "0000310665" "0000685587" "0000388302" "0000816762" "0000389001" "0000817794" "0000391643" "0000821393" "0000391643" "0000821603" "0000396803" "0000828481" "0000396803" "0000828482" "0000413930" "0000871512" "0000413939" "0000871522" "0000413940" "0000871523" "0000413941" "0000871524" "0000413942" "0000871525" "0000413943" "0000871526" "0000413944" "0000871527" "0000413945" "0000871528" "0000413946" "0000871529" "0000413947" "0000871530" "0000413979" "0000871562" "0000413980" "0000871563" "0000413981" "0000871564" "0000413981" "0000871568" "0000413982" "0000871565" "0000413982" "0000871569" "0000413983" "0000871566" "0000413983" "0000871570" "0000413984" "0000871567" "0000413984" "0000871571" "0000413995" "0000871582" "0000413996" "0000871583" "0000413997" "0000871584" "0000413998" "0000871585" "0000413999" "0000871586" "0000414000" "0000871587" "0000414001" "0000871588" "0000414002" "0000871589" "0000414003" "0000871590" "0000414004" "0000871591" "0000428257" "0000905956" "0000449583" "0000959999" "0000449583" "0000960015"