### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RTN4IP1)
# 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}}"
"RTN4IP1" "reticulon 4 interacting protein 1" "6" "q21" "unknown" "NG_047205.1" "UD_132610628922" "" "https://www.LOVD.nl/RTN4IP1" "" "1" "18647" "84816" "610502" "1" "1" "1" "1" "The Reticulon 4 interacting protein 1 gene (RTN4IP1; MIM# 610502) is located on chromosome 6q21 and includes 9 translated exons encoding Reticulon-4-interacting protein 1, mitochondrial, a mitochondrial targeted protein with a quinone oxidoreductase activity.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/RTN4IP1_codingDNA.html" "1" "" "\r\n![\"Mitodyn.org](\"https://pro2-bar-s3-cdn-cf6.myportfolio.com/ca26a62d-d680-4f75-878a-ede830adb2ba/a190b1b0-5d6a-4379-b122-12e941febdf2.png?h=ce56252a54da27c038dba06b8f1f8370\")
\r\n\r\nA database from the MITOchondrial DYNamics variation portal \"Mitodyn.org\".\r\n " "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00091" "2022-06-29 12:29:17" "00000" "2023-11-27 17:35:39"
## 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}}"
"00018293" "RTN4IP1" "reticulon 4 interacting protein 1" "001" "NM_032730.4" "" "NP_116119.2" "" "" "" "-477" "2159" "1191" "107077373" "107018903" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50"
"05194" "OPA10" "atrophy, optic, type 10, with/without ataxia, mental retardation, and seizures (OPA-10)" "AR" "616732" "eyes" "" "" "00006" "2016-10-11 11:01:00" "00006" "2021-12-10 21:51:32"
"05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"RTN4IP1" "04293"
"RTN4IP1" "05194"
"RTN4IP1" "05684"
## Individuals ## Do not remove or alter this header ##
## Count = 48
"{{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}}"
"00065277" "" "" "" "2" "" "01606" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "Patient II-3 from Family I: 2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Morocco" ">45y" "0" "" "" "" "Family I, II-3"
"00065278" "" "" "00065277" "1" "" "01606" "{PMID:Angebault 2015:26593267}" "Brother of Patient II4" "M" "yes" "Morocco" ">52y" "0" "" "" "" "Family I, II-4"
"00065279" "" "" "" "1" "" "01606" "{PMID:Angebault 2015:26593267}" "Patient II-1 from Family II: 2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "France" ">25y" "0" "" "" "Romani" "Family II, II-1"
"00065280" "" "" "" "1" "" "01606" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "Patient named as Family III, II-5 in article by Angebault et al. (2015), and as Family 2, II-5 in article by Meunier et al. (2020): 2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "France" ">23y" "0" "" "" "Romani" "Family III, II-5 (2015) / Family 2, II-5 (2020)"
"00065281" "" "" "" "2" "" "01606" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "Patient named as Family IV, II-2 in article by Angebault et al. (2015), and as Family 4, II-2 in article by Meunier et al. (2020): 2-generation family, 2 sisters, unaffected heterozygous carrier parents" "F" "no" "" ">14y" "0" "" "" "" "Family IV, II-2 (2015) / Family 4, II-2 (2020)"
"00065282" "" "" "00065281" "1" "" "01606" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "Patient named as Family IV, II-3 in article by Angebault et al. (2015), and as Family 4, II-3 in article by Meunier et al. (2020)" "F" "no" "" ">12y" "0" "" "" "" "Family IV, II-3 (2015) / Family 4, II-3 (2020)"
"00327002" "" "" "" "2" "" "03952" "{PMID:Okamoto 2017:28638143}" "" "M" "no" "Japan" "" "0" "" "" "" "Patient I"
"00327590" "" "" "00327002" "1" "" "03952" "{PMID:Okamoto 2017:28638143}" "" "M" "no" "Japan" "" "" "" "" "" "Patient II"
"00327591" "" "" "" "2" "" "03952" "{PMID:Zou 2019:31077085}" "" "F" "no" "China" "" "" "" "" "" "Proband II1"
"00327592" "" "" "00327591" "1" "" "03952" "{PMID:Zou 2019:31077085}" "" "M" "no" "China" "" "" "" "" "" "Proband II2"
"00327593" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "M" "yes" "France" "" "" "" "" "Romani" "Family 1"
"00327615" "" "" "" "2" "" "03952" "{PMID:Charif 2018:29181510}" "" "F" "yes" "France" "" "" "" "" "Romani" "Family 2-1"
"00327616" "" "" "00327615" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "F" "yes" "France" "" "" "" "" "Romani" "Family 2-2"
"00327617" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "M" "yes" "France" "" "" "" "" "Romani" "Family 3"
"00327618" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "M" "yes" "France" "" "" "" "" "Romani" "Family 4"
"00327901" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "F" "yes" "France" "" "" "" "" "Maghrebian" "Family 5"
"00327902" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "F" "no" "Mauritius" "" "" "" "" "Mauritius father of Irish/Pakistani descent; mother of Indian descent" "Family 6"
"00327904" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "Ophthalmological examination not performed" "M" "yes" "Pakistan" "" "0" "" "" "" "Family 7"
"00328345" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "F" "yes" "Iran" "" "0" "" "" "" "Family 8"
"00328347" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "M" "no" "Italy" "" "0" "" "" "" "Family 9"
"00328438" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "" "M" "no" "Italy" "<05y" "" "" "" "" "Family 10"
"00328440" "" "" "" "1" "" "03952" "{PMID:Charif 2018:29181510}" "Ophthalmological examination not performed" "F" "no" "" "<01y" "0" "" "" "" "Family 11"
"00328817" "" "" "" "3" "" "03952" "{PMID:Meunier 2020:33315831}" "" "M" "yes" "France" "" "" "" "" "Romani" "Family 3, II-4"
"00328818" "" "" "00328817" "1" "" "03952" "{PMID:Meunier 2020:33315831}" "" "M" "yes" "France" "" "" "" "" "Romani" "Family 3, II-5"
"00328823" "" "" "00328817" "1" "" "03952" "{PMID:Meunier 2020:33315831}" "" "F" "yes" "France" "" "" "" "" "Romani" "Family 3, III-2"
"00328828" "" "" "" "1" "" "03952" "{PMID:Giacomini 2020:32392611}" "" "M" "no" "Italy" "" "" "" "" "" ""
"00328831" "" "" "" "1" "" "03952" "{PMID:D\'Gama 2021:33037779}" "" "M" "no" "" "" "" "" "" "" ""
"00328832" "" "" "" "1" "" "03952" "{PMID:Rajabian 2021:33136666}" "" "F" "no" "Italy" "" "" "" "" "" ""
"00329130" "" "" "" "1" "" "03952" "{PMID:Li 2020:32855858}" "" "?" "" "China" "" "" "" "" "" ""
"00329131" "" "" "" "1" "" "03952" "{PMID:Li 2020:32855858}" "" "?" "?" "China" "" "" "" "" "" ""
"00329132" "" "" "" "1" "" "03952" "{PMID:Li 2020:32855858}" "" "?" "?" "China" "" "" "" "" "" ""
"00333367" "" "" "" "3" "" "03952" "Angers (under submission)" "" "F" "yes" "France" "" "" "" "" "" ""
"00333368" "" "" "00333367" "1" "" "03952" "Angers (under submission)" "" "M" "yes" "France" "" "" "" "" "" ""
"00333369" "" "" "00333367" "1" "" "03952" "Angers (under submission)" "" "F" "yes" "France" "" "" "" "" "" ""
"00333371" "" "" "" "1" "" "03952" "Angers (under submission)" "" "F" "no" "France" "" "" "" "" "" ""
"00333372" "" "" "" "1" "" "03952" "Angers (under submission)" "" "M" "no" "France" "" "" "" "" "" ""
"00333378" "" "" "" "1" "" "03952" "Angers (under submission)" "" "M" "no" "" "" "" "" "" "" ""
"00333379" "" "" "" "1" "" "03952" "Angers (under submission)" "" "M" "no" "France" "" "" "" "" "" ""
"00333380" "" "" "" "1" "" "03952" "Angers (under submission)" "" "F" "no" "France" "" "" "" "" "" ""
"00359431" "" "" "" "1" "" "03952" "Angers (under submission)" "" "M" "no" "New Caledonia" "" "" "" "" "" ""
"00426910" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 14, individual 16" "M" "" "" "" "0" "" "" "" "14_16"
"00430769" "" "" "" "3" "" "03952" "{PMID:Aldosary 2022:36231115}" "family, 3 affected" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1PatII2(Pat1)"
"00430770" "" "" "00430769" "1" "" "03952" "{PMID:Aldosary 2022:36231115}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1PatII1(Pat2)"
"00430771" "" "" "00430769" "1" "" "03952" "{PMID:Aldosary 2022:36231115}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatII4(Pat3)"
"00430772" "" "" "" "3" "" "03952" "{PMID:Aldosary 2022:36231115}" "family, 3 affected" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2PatII1(Pat4)"
"00430773" "" "" "00430772" "1" "" "03952" "{PMID:Aldosary 2022:36231115}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2PatII2(Pat5)"
"00430774" "" "" "00430772" "1" "" "03952" "{PMID:Aldosary 2022:36231115}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2PatII3(Pat6)"
"00431008" "" "" "" "1" "" "03952" "{PMID:Jurkute 2022:35439212}" "" "M" "no" "United Kingdom (Great Britain)" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 48
"{{individualid}}" "{{diseaseid}}"
"00065277" "05684"
"00065278" "05684"
"00065279" "05684"
"00065280" "05684"
"00065281" "05684"
"00065282" "05684"
"00327002" "05684"
"00327590" "05684"
"00327591" "05684"
"00327592" "05684"
"00327593" "05684"
"00327615" "05684"
"00327616" "05684"
"00327617" "05684"
"00327618" "05684"
"00327901" "05684"
"00327902" "05684"
"00327904" "05684"
"00328345" "05684"
"00328347" "05684"
"00328438" "05684"
"00328440" "05684"
"00328817" "05684"
"00328818" "05684"
"00328823" "05684"
"00328828" "05684"
"00328831" "05684"
"00328832" "05684"
"00329130" "05684"
"00329131" "05684"
"00329132" "05684"
"00333367" "05684"
"00333368" "05684"
"00333369" "05684"
"00333371" "05684"
"00333372" "05684"
"00333378" "05684"
"00333379" "05684"
"00333380" "05684"
"00359431" "05684"
"00426910" "04214"
"00430769" "05684"
"00430770" "05684"
"00430771" "05684"
"00430772" "05684"
"00430773" "05684"
"00430774" "05684"
"00431008" "05684"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04214, 04293, 05194, 05684
## Count = 47
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Histology}}"
"0000051383" "00198" "00065277" "01606" "Familial, autosomal recessive" "45y" "Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Central scotoma (HP:0000603); Cerulean cataract (HP:0007976); Abnormal flash visual evoked potentials (HP:0007928); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Inherited optic neuropathies (IONs)" "" ""
"0000051384" "00198" "00065278" "01606" "Familial, autosomal recessive" "52y" "Severely reduced visual acuity (HP:0001141); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)" "01y-05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Inherited optic neuropathies (IONs)" "" ""
"0000051385" "00198" "00065279" "01606" "Familial, autosomal recessive" "25y" "Moderately reduced visual acuity (HP:0030515); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Centrocecal scotoma (HP:0000576)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Inherited optic neuropathies (IONs)" "" ""
"0000051386" "00198" "00065280" "01606" "Familial, autosomal recessive" "23y" "Moderately reduced visual acuity (HP:0030515); Nyctalopia (HP:0000662); Rod-cone dystrophy (HP:0000510); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Red-green dyschromatopsia (HP:0000642); Ring scotoma (HP:0030529); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479); Abnormal timing of light-adapted flicker electroretinogram (HP:0030480)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Inherited optic neuropathies (IONs)" "" ""
"0000051387" "00198" "00065281" "01606" "Familial, autosomal recessive" "14y" "Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629);\r\nAttenuation of retinal blood vessels (HP:0007843); Hypoplasia of the optic tract (HP:0007096); Ataxia (HP:0001251); Intellectual disability (HP:0001249); Generalized myoclonic seizure (HP:0002123)" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Inherited optic neuropathies (IONs)" "" ""
"0000051388" "00198" "00065282" "01606" "Familial, autosomal recessive" "12y" "Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Hypoplasia of the optic tract (HP:0007096); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629);\r\nAttenuation of retinal blood vessels (HP:0007843); Ataxia (HP:0001251); Intellectual disability (HP:0001249)" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Inherited optic neuropathies (IONs)" "" ""
"0000245481" "05194" "00327002" "03952" "Familial, autosomal recessive" "15y" "Very low visual acuity (HP:0032122); Dyschromatopsia (HP:0007641); Congenital nystagmus (HP:0006934); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Severe constriction of peripheral visual field (HP:0030526); Seizure (HP:0001250); Neurodevelopmental delay (HP:0012758); Lactic acidosis (HP:0003128)" "01y-05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000245842" "05684" "00327590" "03952" "Familial, autosomal recessive" "10y" "Very low visual acuity (HP:0032122); \r\nDyschromatopsia (HP:0007641);\r\nCongenital nystagmus (HP:0006934); \r\nOptic atrophy (HP:0000648); Optic neuropathy (HP:0001138); \r\nOptic nerve hypoplasia (HP:0000609); Severe constriction of peripheral visual field (HP:0030526); Mild global developmental delay (HP:0011342)" "01y-05y" "" "" "" "" "" "" "" "" "" "" "" "MRI" "" "" "" "" "" "" "" "" ""
"0000245843" "05684" "00327591" "03952" "Familial, autosomal recessive" "07y" "Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Increased theta frequency activity in EEG (HP:0031535); EEG with focal epileptiform discharges (HP:0011185); Intellectual disability (HP:0001249); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128)" "01y" "" "" "" "" "" "" "" "" "" "" "" "normal" "" "" "" "" "" "" "" "" ""
"0000245844" "05684" "00327592" "03952" "Familial, autosomal recessive" "05y" "Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Increased theta frequency activity in EEG (HP:0031535); EEG with focal epileptiform discharges (HP:0011185); Intellectual disability (HP:0001249); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128)" "01y-05y" "" "" "" "" "" "" "" "" "" "" "" "normal" "" "" "" "" "" "" "" "" ""
"0000245845" "05684" "00327593" "03952" "Familial, autosomal recessive" "13y" "Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Strabismus (HP:0000486); Photophobia (HP:0000613); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249)" "03y" "" "" "" "" "" "" "" "" "" "" "" "normal" "" "" "" "" "" "" "" "" ""
"0000245861" "05684" "00327615" "03952" "Familial, autosomal recessive" "<16y" "Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648);\r\nOptic neuropathy (HP:0001138)" "" "" "" "" "" "" "" "" "" "" "" "" "normal" "" "" "" "" "" "" "" "" ""
"0000245862" "05684" "00327616" "03952" "Familial, autosomal recessive" "<16y" "Very low visual acuity (HP:0032122); Optic atrophy (HP:0000648); \r\nOptic neuropathy (HP:0001138);" "" "" "" "" "" "" "" "" "" "" "" "" "normal" "" "" "" "" "" "" "" "" ""
"0000245863" "05684" "00327617" "03952" "Familial, autosomal recessive" "<16y" "Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649)" "04y" "" "" "" "" "" "" "" "" "" "" "" "normal" "" "" "" "" "" "" "" "" ""
"0000245873" "05684" "00327618" "03952" "Familial, autosomal recessive" "20y?" "Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000246128" "05684" "00327901" "03952" "Familial, autosomal recessive" "<10y" "Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); \r\nOptic neuropathy (HP:0001138); Red-green dyschromatopsia (HP:0000642)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000246129" "05684" "00327902" "03952" "Familial, autosomal recessive" "<10y" "Severely reduced visual acuity (HP:0001141); Sudden loss of visual acuity (HP:0001117); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Strabismus (HP:0000486); Abnormality of visual evoked potentials (HP:0000649); Red-green dyschromatopsia (HP:0000642); Nystagmus (HP:0000639)" "02y" "" "" "" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000246131" "05684" "00327904" "03952" "Familial, autosomal recessive" "<16y" "Seizure (HP:0001250); Postnatal growth retardation (HP:0008897); Severe global developmental delay (HP:0011344); Lactic acidosis (HP:0003128); Feeding difficulties (HP:0011968); Seizure precipitated by febrile infection (HP:0032894); Bilateral tonic-clonic seizure (HP:0002069); Developmental regression (HP:0002376)" "01y-03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000246572" "05684" "00328345" "03952" "Familial, autosomal recessive" "30y?" "Progressive visual loss (HP:0000529); Blindness (HP:0000618); Vertical nystagmus (HP:0010544); Photophobia (HP:0000613); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); \r\nOptic neuropathy (HP:0001138); Seizure (HP:0001250); Global developmental delay (HP:0001263); Intellectual disability, severe (HP:0010864); Lower limb spasticity (HP:0002061); Gait ataxia (HP:0002066); Neonatal hypotonia (HP:0001319)" "<05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000246663" "05684" "00328347" "03952" "Familial, autosomal recessive" "<10y" "Poor visual behavior for age (HP:0025152); Optic atrophy (HP:0000648); \r\nOptic neuropathy (HP:0001138); Global developmental delay (HP:0001263); Intellectual disability, severe (HP:0010864); Increased serum pyruvate (HP:0003542);\r\nLactic acidosis (HP:0003128); Spastic tetraparesis (HP:0001285); Arm dystonia (HP:0031960); Sensory axonal neuropathy (HP:0003390); Generalized-onset seizure (HP:0002197); EEG abnormality (HP:0002353); Abnormal auditory evoked potentials (HP:0006958); Abnormality of visual evoked potentials (HP:0000649); Abnormal thalamic MRI signal intensity (HP:0012696); Abnormal brainstem MRI signal intensity (HP:0012747)" "<01y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000246664" "05684" "00328438" "03952" "Familial, autosomal recessive" "<05y" "Poor visual behavior for age (HP:0025152); Optic disc pallor (HP:0000543); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Eyelid myoclonias (HP:0011168); Stridor (HP:0010307); Neonatal hypotonia (HP:0001319); Severe global developmental delay (HP:0011344); Seizure (HP:0001250); EEG with burst suppression (HP:0010851); Cerebral atrophy (HP:0002059); Elevated brain lactate level by MRS (HP:0012707)" "<00y01m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000246665" "05684" "00328440" "03952" "Familial, autosomal recessive" "<01y" "Uncontrolled eye movements (HP:0007738); Decreased fetal movement (HP:0001558); Feeding difficulties (HP:0011968); Stridor (HP:0010307); Failure to thrive (HP:0001508); Lactic acidosis (HP:0003128); Hyperalaninemia (HP:0003348); Abnormal basal ganglia MRI signal intensity (HP:0012751); EEG with centrotemporal focal spike waves (HP:0012557)" "00y00m07d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247025" "05684" "00328817" "03952" "Familial, autosomal recessive" "57y" "Ultra-low vision with retained motion projection (HP:0032284); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Ring scotoma (HP:0030529); Perifoveal ring of hyperautofluorescence (HP:0030629);\r\nAttenuation of retinal blood vessels (HP:0007843)" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247030" "05684" "00328818" "03952" "Familial, autosomal recessive" "64y" "Ultra-low vision with retained light perception (HP:0032286); Nystagmus (HP:0000639); Photophobia (HP:0000613); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Bone spicule pigmentation of the retina (HP:0007737); Macular edema (HP:0040049); Undetectable light- and dark-adapted electroretinogram (HP:0007688); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Severe constriction of peripheral visual field (HP:0030526)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247031" "05684" "00328823" "03952" "Familial, autosomal recessive" "28y" "Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Attenuation of retinal blood vessels (HP:0007843); Bone spicule pigmentation of the retina (HP:0007737); Ring scotoma (HP:0030529); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247037" "05684" "00328828" "03952" "Familial, autosomal recessive" "15y" "Severely reduced visual acuity (HP:0001141); Horizontal nystagmus (HP:0000666); High myopia (HP:0011003); Alternating esotropia (HP:0001137); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Intellectual disability, mild (HP:0001256); Neutropenia, mild (HP:0001875); Leukopenia (HP:0001882); Hearing impairment (HP:0000365); Chorea (HP:0002072); Dysarthria (HP:0001260); Periventricular heterotopia (HP:0007165)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247038" "05684" "00328831" "03952" "Familial, autosomal recessive" "04y" "Neonatal respiratory distress (HP:0002643); Nasogastric tube feeding in infancy (HP:0011470); Horizontal nystagmus (HP:0000666); High hypermetropia (HP:0008499); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Infantile axial hypotonia (HP:0009062); Limb hypertonia (HP:0002509); Ataxia (HP:0001251); Choreoathetosis (HP:0001266); Focal T2 hypointense basal ganglia lesion (HP:0012752); Focal hyperintensity of cerebral white matter on MRI (HP:0040328); Decreased thalamic volume (HP:0012695); Short stature (HP:0004322); Macrocephaly (HP:0000256); High palate (HP:0000218); Wide intermamillary distance (HP:0006610); Reduced tendon reflexes (HP:0001315); Oral-pharyngeal dysphagia (HP:0200136); Lactic acidosis (HP:0003128); Elevated lactate:pyruvate ratio (HP:0032653); Developmental regression (HP:0002376); Increased size of nasopharyngeal adenoids (HP:0040261); Bilateral tonic-clonic seizure (HP:0002069); Focal-onset seizure (HP:0007359); Interictal epileptiform activity (HP:0011182); EEG with generalized slow activity (HP:0010845);" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247039" "05684" "00328832" "03952" "Familial, autosomal recessive" "27y" "Severely reduced visual acuity (HP:0001141); Progressive visual loss (HP:0000529); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Photoreceptor layer loss on macular OCT (HP:0030609); Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)" "01y-05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247328" "05684" "00329130" "03952" "Familial, autosomal recessive" "" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);" "" "" "" "" "" "" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247329" "05684" "00329131" "03952" "Familial, autosomal recessive" "" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);" "" "" "" "" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000247330" "05684" "00329132" "03952" "Familial, autosomal recessive" "" "Optic atrophy (HP:0000648); \r\nOptic neuropathy (HP:0001138)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251554" "05684" "00333367" "03952" "Familial, autosomal recessive" "12y" "Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249)" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251555" "05684" "00333368" "03952" "Familial, autosomal recessive" "05y" "Mildly reduced visual acuity (HP:0032037); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251556" "05684" "00333369" "03952" "Familial, autosomal recessive" "09y" "Moderately reduced visual acuity (HP:0030515); Red-green dyschromatopsia (HP:0000642); Central scotoma (HP:0000603); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249)" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251558" "05684" "00333371" "03952" "Familial, autosomal recessive" "34y" "Moderately reduced visual acuity (HP:0030515); Tritanomaly (HP:0000552); Centrocecal scotoma (HP:0000576); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)" "01y-05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251559" "05684" "00333372" "03952" "Familial, autosomal recessive" "13y" "Moderately reduced visual acuity (HP:0030515); Rotary nystagmus (HP:0001583); Central scotoma (HP:0000603); Retinal vascular tortuosity (HP:0012841); Hypoplasia of the fovea (HP:0007750); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Open bite (HP:0010807); Macroglossia (HP:0000158)" "01y-05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251565" "05684" "00333378" "03952" "Familial, autosomal recessive" "06y" "Reduced visual acuity (HP:0007663); Optic neuropathy (HP:0001138); Exodeviation (HP:0020049)" "01y-05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251566" "05684" "00333379" "03952" "Familial, autosomal recessive" "08y" "Optic neuropathy (HP:0001138)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251567" "05684" "00333380" "03952" "Familial, autosomal recessive" "25y" "Moderately reduced visual acuity (HP:0030515); Photophobia (HP:0000613); Central scotoma (HP:0000603); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000318048" "04214" "00426910" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "cone dystrophy" "" ""
"0000321490" "05684" "00430769" "03952" "Familial, autosomal recessive" "26y" "Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Abnormal pupillary light reflex (HP:0007695); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Bulbous nose (HP:0000414); Microtia (HP:0008551); Hypertelorism (HP:0000316); Thick upper lip vermilion (HP:0000215); Short philtrum (HP:0000322); Eczema (HP:0000964); Seizure (HP:0001250); Bilateral tonic-clonic seizure (HP:0002069); Focal impaired awareness seizure (HP:0002384); Elevated brain lactate level by MRS (HP:0012707); EEG abnormality (HP:0002353)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321491" "05684" "00430770" "03952" "Familial, autosomal recessive" ">26y" "Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Ataxia (HP:0001251); Unsteady gait (HP:0002317); Delayed speech and language development (HP:0000750); Cognitive impairment (HP:0100543); Moderate global developmental delay (HP:0011343); Loss of ambulation (HP:0002505); Seizure (HP:0001250); EEG with focal spikes (HP:0011193)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321492" "05684" "00430771" "03952" "Familial, autosomal recessive" "24y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Ataxia (HP:0001251); Seizure (HP:0001250); Elevated brain lactate level by MRS (HP:0012707)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321493" "05684" "00430772" "03952" "Familial, autosomal recessive" "25y" "Global developmental delay (HP:0001263); Seizure (HP:0001250); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced brain lactate level by MRS (HP:0025046)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321494" "05684" "00430773" "03952" "Familial, autosomal recessive" "16y" "Nystagmus (HP:0000639); Seizure (HP:0001250); EEG with focal spikes (HP:0011193); EEG with focal slow activity (HP:0010843); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Elevated brain lactate level by MRS (HP:0012707)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321495" "05684" "00430774" "03952" "Familial, autosomal recessive" "18y" "Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Elevated brain lactate level by MRS (HP:0012707)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321617" "05684" "00431008" "03952" "Familial, autosomal recessive" "19y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure precipitated by febrile infection (HP:0032894); Abnormality of visual evoked potentials (HP:0000649); Severely reduced visual acuity (HP:0001141); Dyschromatopsia (HP:0007641); Abnormal Ishihara plate test (HP:0030586); Myopic astigmatism (HP:0500041); Temporal optic disc pallor (HP:0012511)" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 48
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000065429" "00065277" "1" "01606" "01606" "2016-05-25 13:45:41" "00091" "2022-06-08 08:09:31" "SEQ-NG" "DNA" "" ""
"0000065430" "00065278" "1" "01606" "01606" "2016-05-25 13:56:59" "00091" "2022-06-08 08:23:06" "SEQ-NG" "DNA" "" ""
"0000065431" "00065279" "1" "01606" "01606" "2016-05-25 15:17:16" "" "" "SEQ" "DNA" "" ""
"0000065432" "00065280" "1" "01606" "01606" "2016-05-25 15:27:54" "" "" "SEQ" "DNA" "" ""
"0000065433" "00065281" "1" "01606" "01606" "2016-05-25 15:51:27" "" "" "SEQ" "DNA" "" ""
"0000065434" "00065282" "1" "01606" "01606" "2016-05-25 15:58:10" "" "" "SEQ" "DNA" "" ""
"0000328217" "00327002" "1" "03952" "03952" "2021-01-18 11:54:52" "" "" "SEQ-NG" "DNA" "" ""
"0000328805" "00327590" "1" "03952" "03952" "2021-01-24 13:48:41" "" "" "SEQ-NG" "DNA" "" ""
"0000328806" "00327591" "1" "03952" "03952" "2021-01-24 14:10:43" "" "" "SEQ-NG" "DNA" "" ""
"0000328807" "00327592" "1" "03952" "03952" "2021-01-24 14:25:23" "" "" "SEQ-NG" "DNA" "" ""
"0000328829" "00327593" "1" "03952" "03952" "2021-01-25 09:56:08" "" "" "SEQ-NG" "DNA" "" ""
"0000328830" "00327615" "1" "03952" "03952" "2021-01-25 10:09:19" "" "" "SEQ-NG" "DNA" "" ""
"0000328831" "00327616" "1" "03952" "03952" "2021-01-25 10:18:46" "" "" "SEQ-NG" "DNA" "" ""
"0000328832" "00327617" "1" "03952" "03952" "2021-01-25 10:24:53" "" "" "SEQ-NG" "DNA" "" ""
"0000328842" "00327618" "1" "03952" "03952" "2021-01-25 10:49:48" "" "" "SEQ-NG" "DNA" "" ""
"0000329116" "00327901" "1" "03952" "03952" "2021-01-27 10:56:39" "" "" "SEQ-NG" "DNA" "" ""
"0000329117" "00327902" "1" "03952" "03952" "2021-01-27 11:07:41" "" "" "SEQ-NG" "DNA" "" ""
"0000329119" "00327904" "1" "03952" "03952" "2021-01-27 11:26:22" "" "" "SEQ-NG" "DNA" "" ""
"0000329560" "00328345" "1" "03952" "03952" "2021-01-27 13:57:39" "" "" "SEQ-NG" "DNA" "" ""
"0000329651" "00328347" "1" "03952" "03952" "2021-01-27 14:39:51" "" "" "SEQ-NG" "DNA" "" ""
"0000329654" "00328438" "1" "03952" "03952" "2021-01-27 15:50:39" "" "" "SEQ-NG" "DNA" "" ""
"0000329655" "00328440" "1" "03952" "03952" "2021-01-27 16:30:57" "" "" "SEQ-NG" "DNA" "" ""
"0000330033" "00328817" "1" "03952" "03952" "2021-02-01 08:45:12" "" "" "SEQ-NG" "DNA" "" ""
"0000330038" "00328818" "1" "03952" "03952" "2021-02-01 09:22:33" "" "" "SEQ-NG" "DNA" "" ""
"0000330039" "00328823" "1" "03952" "03952" "2021-02-01 09:48:30" "" "" "SEQ-NG" "DNA" "" ""
"0000330046" "00328828" "1" "03952" "03952" "2021-02-01 10:41:48" "" "" "SEQ-NG" "DNA" "" ""
"0000330047" "00328831" "1" "03952" "03952" "2021-02-01 11:39:53" "" "" "SEQ-NG" "DNA" "" ""
"0000330048" "00328832" "1" "03952" "03952" "2021-02-01 13:11:17" "" "" "SEQ-NG" "DNA" "" ""
"0000330350" "00329130" "1" "03952" "03952" "2021-02-05 08:28:56" "00091" "2022-06-09 08:06:56" "SEQ-NG" "DNA" "" ""
"0000330351" "00329131" "1" "03952" "03952" "2021-02-05 08:50:29" "" "" "SEQ-NG" "DNA" "" ""
"0000330352" "00329132" "1" "03952" "03952" "2021-02-05 09:49:27" "" "" "SEQ-NG" "DNA" "" ""
"0000334592" "00333367" "1" "03952" "03952" "2021-02-25 10:39:44" "" "" "SEQ-NG" "DNA" "" ""
"0000334593" "00333368" "1" "03952" "03952" "2021-02-25 10:43:52" "" "" "SEQ-NG" "DNA" "" ""
"0000334594" "00333369" "1" "03952" "03952" "2021-02-25 10:47:51" "" "" "SEQ-NG" "DNA" "" ""
"0000334596" "00333371" "1" "03952" "03952" "2021-02-25 11:04:08" "" "" "SEQ-NG" "DNA" "" ""
"0000334597" "00333372" "1" "03952" "03952" "2021-02-25 11:12:02" "" "" "SEQ-NG" "DNA" "" ""
"0000334603" "00333378" "1" "03952" "03952" "2021-02-25 11:27:18" "" "" "SEQ-NG" "DNA" "" ""
"0000334604" "00333379" "1" "03952" "03952" "2021-02-25 11:37:22" "" "" "SEQ-NG" "DNA" "" ""
"0000334605" "00333380" "1" "03952" "03952" "2021-02-25 11:44:42" "" "" "SEQ-NG" "DNA" "" ""
"0000360673" "00359431" "1" "03952" "03952" "2021-03-22 11:33:57" "" "" "SEQ-NG" "DNA" "" ""
"0000428230" "00426910" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000432180" "00430769" "1" "03952" "03952" "2023-01-23 20:16:07" "" "" "SEQ-NG" "DNA" "" ""
"0000432181" "00430770" "1" "03952" "03952" "2023-01-23 20:23:20" "" "" "SEQ-NG" "DNA" "" ""
"0000432182" "00430771" "1" "03952" "03952" "2023-01-23 20:26:32" "" "" "SEQ-NG" "DNA" "" ""
"0000432183" "00430772" "1" "03952" "03952" "2023-01-23 20:29:35" "" "" "SEQ-NG" "DNA" "" ""
"0000432184" "00430773" "1" "03952" "03952" "2023-01-23 20:32:39" "" "" "SEQ-NG" "DNA" "" ""
"0000432185" "00430774" "1" "03952" "03952" "2023-01-23 20:35:32" "" "" "SEQ-ON" "DNA" "" ""
"0000432419" "00431008" "1" "03952" "03952" "2023-01-25 16:52:26" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 49
"{{screeningid}}" "{{geneid}}"
"0000065429" "RTN4IP1"
"0000065430" "RTN4IP1"
"0000065431" "RTN4IP1"
"0000065432" "RTN4IP1"
"0000065433" "RTN4IP1"
"0000065434" "RTN4IP1"
"0000328217" "RTN4IP1"
"0000328805" "RTN4IP1"
"0000328806" "RTN4IP1"
"0000328807" "RTN4IP1"
"0000328829" "RTN4IP1"
"0000328830" "RTN4IP1"
"0000328831" "RTN4IP1"
"0000328832" "RTN4IP1"
"0000328842" "RTN4IP1"
"0000329116" "RTN4IP1"
"0000329117" "RTN4IP1"
"0000329119" "RTN4IP1"
"0000329560" "RTN4IP1"
"0000329651" "RTN4IP1"
"0000329654" "RTN4IP1"
"0000329655" "RTN4IP1"
"0000330033" "RTN4IP1"
"0000330038" "RTN4IP1"
"0000330039" "RTN4IP1"
"0000330046" "RTN4IP1"
"0000330047" "RTN4IP1"
"0000330048" "RTN4IP1"
"0000330350" "MT-ND5"
"0000330350" "RTN4IP1"
"0000330351" "RTN4IP1"
"0000330352" "RTN4IP1"
"0000334592" "RTN4IP1"
"0000334593" "RTN4IP1"
"0000334594" "RTN4IP1"
"0000334596" "RTN4IP1"
"0000334597" "RTN4IP1"
"0000334603" "RTN4IP1"
"0000334604" "RTN4IP1"
"0000334605" "RTN4IP1"
"0000360673" "RTN4IP1"
"0000428230" "KCNV2"
"0000432180" "RTN4IP1"
"0000432181" "RTN4IP1"
"0000432182" "RTN4IP1"
"0000432183" "RTN4IP1"
"0000432184" "RTN4IP1"
"0000432185" "RTN4IP1"
"0000432419" "RTN4IP1"
## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 74
"{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}"
"0000097115" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "01606" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106622936C>T" "" "pathogenic (recessive)" ""
"0000097116" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "01606" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Angebault 2015:26593267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106622936C>T" "" "pathogenic (recessive)" ""
"0000097117" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "01606" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Angebault 2015:26593267}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.106622936C>T" "" "pathogenic (recessive)" ""
"0000097118" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "01606" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106622936C>T" "" "pathogenic (recessive)" ""
"0000097119" "11" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "01606" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106622936C>T" "" "pathogenic (recessive)" ""
"0000097120" "21" "90" "6" "107067096" "107067096" "subst" "0.00000812315" "01606" "RTN4IP1_000002" "g.107067096T>A" "" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106619221T>A" "" "pathogenic (recessive)" ""
"0000097121" "11" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "01606" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106622936C>T" "" "pathogenic (recessive)" ""
"0000097122" "21" "90" "6" "107067096" "107067096" "subst" "0.00000812315" "01606" "RTN4IP1_000002" "g.107067096T>A" "" "{PMID:Angebault 2015:26593267} {PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106619221T>A" "" "pathogenic (recessive)" ""
"0000526578" "0" "30" "6" "107040095" "107040095" "subst" "0.0000203094" "01943" "QRSL1_000002" "g.107040095G>A" "" "" "" "RTN4IP1(NM_032730.5):c.750C>T (p.D250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106592220G>A" "" "likely benign" ""
"0000526579" "0" "10" "6" "107077597" "107077597" "subst" "0.00129113" "02327" "QRSL1_000003" "g.107077597C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106629722C>T" "" "benign" ""
"0000609890" "0" "10" "6" "107070677" "107070677" "subst" "0.000747978" "02330" "QRSL1_000006" "g.107070677G>A" "" "" "" "RTN4IP1(NM_032730.5):c.426+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106622802G>A" "" "benign" ""
"0000655444" "0" "30" "6" "107031255" "107031255" "subst" "0.0000162748" "01943" "QRSL1_000007" "g.107031255A>G" "" "" "" "RTN4IP1(NM_032730.5):c.1031T>C (p.M344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106583380A>G" "" "likely benign" ""
"0000689597" "0" "50" "6" "107040160" "107040160" "subst" "0.000358096" "01943" "QRSL1_000009" "g.107040160C>A" "" "" "" "RTN4IP1(NM_032730.5):c.685G>T (p.D229Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000712153" "11" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Okamoto 2017:28638143}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106622936C>T" "" "pathogenic (recessive)" ""
"0000712740" "21" "90" "6" "107040038" "107040038" "subst" "0.0000122074" "03952" "RTN4IP1_000003" "g.107040038C>T" "" "{PMID:Okamoto 2017:28638143}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106592163C>T" "" "pathogenic (recessive)" ""
"0000712903" "11" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Okamoto 2017:28638143}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712904" "21" "90" "6" "107040038" "107040038" "subst" "0.0000122074" "03952" "RTN4IP1_000003" "g.107040038C>T" "" "{PMID:Okamoto 2017:28638143}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712905" "11" "90" "6" "107019900" "107019900" "subst" "0.0000285244" "03952" "RTN4IP1_000004" "g.107019900G>A" "" "{PMID:Zou 2019:31077085}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712906" "21" "90" "6" "107050772" "107050772" "subst" "0.00000840308" "03952" "RTN4IP1_000005" "g.107050772C>T" "" "{PMID:Zou 2019:31077085}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712907" "11" "90" "6" "107019900" "107019900" "subst" "0.0000285244" "03952" "RTN4IP1_000004" "g.107019900G>A" "" "{PMID:Zou 2019:31077085}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712908" "21" "90" "6" "107050772" "107050772" "subst" "0.00000840308" "03952" "RTN4IP1_000005" "g.107050772C>T" "" "{PMID:Zou 2019:31077085}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712950" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712951" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712952" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712953" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000712963" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000713238" "3" "90" "6" "107019978" "107019978" "subst" "0" "03952" "RTN4IP1_000008" "g.107019978T>A" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000713239" "1" "90" "6" "107076768" "107076768" "subst" "0" "03952" "RTN4IP1_000006" "g.107076768C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713240" "2" "90" "6" "107076745" "107076745" "subst" "0" "03952" "RTN4IP1_000007" "g.107076745T>C" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713242" "3" "70" "6" "107070806" "107070806" "subst" "0" "03952" "RTN4IP1_000009" "g.107070806G>A" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic (recessive)" ""
"0000713908" "3" "90" "6" "107031219" "107031219" "subst" "0" "03952" "RTN4IP1_000010" "g.107031219A>G" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714003" "11" "90" "6" "107069363" "107069363" "subst" "0.00000406326" "03952" "RTN4IP1_000011" "g.107069363C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714004" "21" "90" "6" "107035582" "107035582" "subst" "0" "03952" "RTN4IP1_000012" "g.107035582C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714007" "3" "90" "6" "107070805" "107070805" "subst" "0" "03952" "RTN4IP1_000013" "g.107070805G>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714008" "10" "90" "6" "107040038" "107040038" "subst" "0.0000122074" "03952" "RTN4IP1_000003" "g.107040038C>T" "" "{PMID:Charif 2018:29181510}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000714009" "21" "90" "6" "107067197" "107067197" "subst" "0" "03952" "RTN4IP1_000014" "g.107067197G>A" "" "{PMID:Charif 2018:29181510}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714456" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714463" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714464" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Meunier 2020:33315831}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714474" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Giacomini 2020:32392611}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714475" "11" "90" "6" "107076634" "107076634" "subst" "0" "03952" "RTN4IP1_000015" "g.107076634A>C" "" "{PMID:D\'Gama 2021:33037779}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714476" "11" "90" "6" "107069363" "107069363" "subst" "0.00000406326" "03952" "RTN4IP1_000011" "g.107069363C>T" "" "{PMID:Rajabian 2021:33136666}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714477" "21" "90" "6" "107050772" "107050772" "subst" "0.00000840308" "03952" "RTN4IP1_000005" "g.107050772C>T" "" "{PMID:Rajabian 2021:33136666}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000714478" "21" "90" "6" "106987026" "107077832" "del" "0" "03952" "RTN4IP1_000016" "g.(?_106987026)_(107077832_?)del" "" "{PMID:D\'Gama 2021:33037779}" "" "hg19 chr6:106,987,026–107,077,832" "CNV analysis from exome data identified a 90.8 kb maternal deletion (hg19\r\nchr6:106,987,026–107,077,832) encompassing the entire gene, consistent with deletion of RTN4IP1 inherited from the mother. The deletion includes part of AIM1, which may be associated with human melanoma, and part of QRLS1, which is associated with an AR disorder, thus not likely disease-causing although could act as modifiers." "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000714935" "1" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "{PMID:Li 2020:32855858}" "" "ND1 m.12338T>C+RTN4IP1 c.308G>A, Het" "Variant associated with a variant in mitochondrial DNA (MT-ND5:c.2T>C / m.12338T>C)" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000714936" "1" "50" "6" "107031271" "107031271" "subst" "0.0000815089" "03952" "RTN4IP1_000017" "g.107031271G>A" "" "{PMID:Li 2020:32855858}" "" "ND4 m.11253T>C+RTN4IP1 c.1015C>T, Het" "Variant associated with a variant in mitochondrial DNA (MT-ND4:c.494T>C / m.11253T>C)" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000714937" "1" "70" "6" "107035582" "107035582" "subst" "0.000711955" "03952" "RTN4IP1_000018" "g.107035582C>G" "" "{PMID:Li 2020:32855858}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000720613" "0" "50" "6" "107031213" "107031213" "subst" "0.000724797" "01943" "QRSL1_000010" "g.107031213T>A" "" "" "" "RTN4IP1(NM_032730.5):c.1073A>T (p.D358V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000732522" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "Angers (under submission)" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" ""
"0000732523" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "Angers (under submission)" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000732524" "3" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "03952" "RTN4IP1_000001" "g.107070811C>T" "" "Angers (under submission)" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000732526" "3" "50" "6" "107070779" "107070779" "subst" "0" "03952" "RTN4IP1_000023" "g.107070779C>T" "" "Angers (under submission)" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" ""
"0000732527" "10" "70" "6" "107067195" "107067196" "del" "0" "03952" "RTN4IP1_000020" "g.107067195_107067196del" "" "Angers (under submission)" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" ""
"0000732528" "21" "70" "6" "107035654" "107035654" "subst" "0.0000122085" "03952" "RTN4IP1_000019" "g.107035654T>C" "" "Angers (under submission)" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" ""
"0000732534" "11" "70" "6" "107070779" "107070779" "subst" "0" "03952" "RTN4IP1_000024" "g.107070779C>A" "" "Angers (under submission)" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" ""
"0000732535" "11" "50" "6" "107070688" "107070688" "subst" "0" "03952" "RTN4IP1_000021" "g.107070688C>A" "" "Angers (under submission)" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" ""
"0000732536" "21" "50" "6" "107070718" "107070718" "subst" "0" "03952" "RTN4IP1_000022" "g.107070718A>C" "" "Angers (under submission)" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" ""
"0000732537" "1" "50" "6" "107040160" "107040160" "subst" "0.000358096" "03952" "QRSL1_000009" "g.107040160C>A" "" "Angers (under submission)" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000760747" "1" "50" "6" "107031271" "107031271" "subst" "0.0000815089" "03952" "RTN4IP1_000017" "g.107031271G>A" "" "Angers (under submission)" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000860057" "0" "90" "6" "107070811" "107070811" "subst" "0.0000284299" "02330" "RTN4IP1_000001" "g.107070811C>T" "" "" "" "RTN4IP1(NM_032730.5):c.308G>A (p.R103H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000886971" "0" "30" "6" "107050817" "107050817" "subst" "0.000198834" "02330" "QRSL1_000011" "g.107050817A>G" "" "" "" "RTN4IP1(NM_032730.5):c.621-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000886972" "0" "50" "6" "107076838" "107076838" "subst" "0.0000487452" "02330" "QRSL1_000012" "g.107076838C>T" "" "" "" "RTN4IP1(NM_032730.5):c.59G>A (p.W20*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000905880" "0" "50" "6" "107050781" "107050781" "subst" "0.0000209633" "00000" "RTN4IP1_000025" "g.107050781C>T" "" "{PMID:Zhu 2022:35456422}" "" "RTN4IP1 c.637G>A, p.(Ala213Thr)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.106602906C>T" "" "VUS" "ACMG"
"0000912372" "0" "30" "6" "107067106" "107067106" "subst" "0.00000812334" "02330" "QRSL1_000014" "g.107067106G>A" "" "" "" "RTN4IP1(NM_032730.5):c.591C>T (p.G197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000917583" "3" "90" "6" "107069320" "107069320" "subst" "0" "03952" "RTN4IP1_000026" "g.107069320C>A" "" "{PMID:Aldosary 2022:36231115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106621445C>A" "" "pathogenic" ""
"0000917584" "3" "90" "6" "107069320" "107069320" "subst" "0" "03952" "RTN4IP1_000026" "g.107069320C>A" "" "{PMID:Aldosary 2022:36231115}" "" "" "" "Germline" "yes" "" "" "" "" "g.106621445C>A" "" "pathogenic" ""
"0000917585" "3" "90" "6" "107069320" "107069320" "subst" "0" "03952" "RTN4IP1_000026" "g.107069320C>A" "" "{PMID:Aldosary 2022:36231115}" "" "" "" "Germline" "yes" "" "" "" "" "g.106621445C>A" "" "pathogenic" ""
"0000917586" "3" "90" "6" "107069320" "107069320" "subst" "0" "03952" "RTN4IP1_000026" "g.107069320C>A" "" "{PMID:Aldosary 2022:36231115}" "" "" "" "Germline" "yes" "" "" "" "" "g.106621445C>A" "" "pathogenic" ""
"0000917587" "3" "90" "6" "107069320" "107069320" "subst" "0" "03952" "RTN4IP1_000026" "g.107069320C>A" "" "{PMID:Aldosary 2022:36231115}" "" "" "" "Germline" "yes" "" "" "" "" "g.106621445C>A" "" "pathogenic" ""
"0000917588" "3" "90" "6" "107069320" "107069320" "subst" "0" "03952" "RTN4IP1_000026" "g.107069320C>A" "" "{PMID:Aldosary 2022:36231115}" "" "" "" "Germline" "yes" "" "" "" "" "g.106621445C>A" "" "pathogenic" ""
"0000917896" "21" "70" "6" "107070812" "107070812" "subst" "0.0000609221" "03952" "RTN4IP1_000027" "g.107070812G>A" "" "{PMID:Jurkute 2022:35439212}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106622937G>A" "" "likely pathogenic (recessive)" ""
"0000917897" "11" "70" "6" "107058228" "107068266" "del" "0" "03952" "RTN4IP1_000028" "g.107058228_107068266del" "" "{PMID:Jurkute 2022:35439212}" "" "del ex4, g.106610328_106620366del" "" "Germline" "yes" "" "0" "" "" "g.106610353_106620391del" "" "likely pathogenic (recessive)" ""
"0000924401" "0" "30" "6" "107070855" "107070856" "del" "0" "02330" "QRSL1_000015" "g.107070855_107070856del" "" "" "" "RTN4IP1(NM_032730.5):c.275-11_275-10delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948608" "0" "70" "6" "107040044" "107040044" "dup" "0" "02330" "QRSL1_000016" "g.107040044dup" "" "" "" "RTN4IP1(NM_032730.5):c.804dupA (p.P269Tfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 RTN4IP1
## Count = 74
"{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}"
"0000097115" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "2"
"0000097116" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "2"
"0000097117" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "2"
"0000097118" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "2"
"0000097119" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "2"
"0000097120" "00018293" "90" "601" "0" "601" "0" "c.601A>T" "r.(?)" "p.(Lys201*)" "4"
"0000097121" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "2"
"0000097122" "00018293" "90" "601" "0" "601" "0" "c.601A>T" "r.(?)" "p.(Lys201*)" "4"
"0000526578" "00018293" "30" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Asp250=)" ""
"0000526579" "00018293" "10" "-701" "0" "-701" "0" "c.-701G>A" "r.(?)" "p.(=)" ""
"0000609890" "00018293" "10" "426" "16" "426" "16" "c.426+16C>T" "r.(=)" "p.(=)" ""
"0000655444" "00018293" "30" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Met344Thr)" ""
"0000689597" "00018293" "50" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Asp229Tyr)" ""
"0000712153" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000712740" "00018293" "90" "806" "1" "806" "1" "c.806+1G>A" "r.spl" "p.?" ""
"0000712903" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000712904" "00018293" "90" "806" "1" "806" "1" "c.806+1G>A" "r.spl?" "p.?" ""
"0000712905" "00018293" "90" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388*)" ""
"0000712906" "00018293" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" ""
"0000712907" "00018293" "90" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388*)" ""
"0000712908" "00018293" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" ""
"0000712950" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000712951" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000712952" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000712953" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000712963" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000713238" "00018293" "90" "1084" "0" "1084" "0" "c.1084A>T" "r.(?)" "p.(Ile362Phe)" ""
"0000713239" "00018293" "90" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Met43Ile)" ""
"0000713240" "00018293" "90" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Tyr51Cys)" ""
"0000713242" "00018293" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Pro105Ser)" ""
"0000713908" "00018293" "90" "1067" "0" "1067" "0" "c.1067T>C" "r.(?)" "p.(Leu356Pro)" ""
"0000714003" "00018293" "90" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Trp144*)" ""
"0000714004" "00018293" "90" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Gly321Glu)" ""
"0000714007" "00018293" "90" "314" "0" "314" "0" "c.314C>A" "r.(?)" "p.(Pro105His)" ""
"0000714008" "00018293" "90" "806" "1" "806" "1" "c.806+1G>A" "r.spl?" "p.?" ""
"0000714009" "00018293" "90" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Ser167Phe)" ""
"0000714456" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000714463" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000714464" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000714474" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000714475" "00018293" "90" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Val88Gly)" ""
"0000714476" "00018293" "90" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Trp144*)" ""
"0000714477" "00018293" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" ""
"0000714478" "00018293" "90" "0" "0" "0" "0" "c.-477_*968{0}" "r.0?" "p.0?" "_1_9_"
"0000714935" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000714936" "00018293" "50" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Cys)" ""
"0000714937" "00018293" "70" "962" "0" "962" "0" "c.962G>C" "r.(?)" "p.(Gly321Ala)" ""
"0000720613" "00018293" "50" "1073" "0" "1073" "0" "c.1073A>T" "r.(?)" "p.(Asp358Val)" ""
"0000732522" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000732523" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000732524" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000732526" "00018293" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Glu114Lys)" ""
"0000732527" "00018293" "70" "501" "0" "502" "0" "c.501_502del" "r.(?)" "p.(His168Glnfs*32)" ""
"0000732528" "00018293" "70" "890" "0" "890" "0" "c.890A>G" "r.(?)" "p.(Tyr297Cys)" ""
"0000732534" "00018293" "70" "340" "0" "340" "0" "c.340G>T" "r.(?)" "p.(Glu114*)" ""
"0000732535" "00018293" "50" "426" "5" "426" "5" "c.426+5G>T" "r.spl?" "p.?" ""
"0000732536" "00018293" "50" "401" "0" "401" "0" "c.401T>G" "r.(?)" "p.(Val134Gly)" ""
"0000732537" "00018293" "50" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Asp229Tyr)" ""
"0000760747" "00018293" "50" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Cys)" ""
"0000860057" "00018293" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000886971" "00018293" "30" "621" "-20" "621" "-20" "c.621-20T>C" "r.(=)" "p.(=)" ""
"0000886972" "00018293" "50" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Trp20*)" ""
"0000905880" "00018293" "50" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Ala213Thr)" ""
"0000912372" "00018293" "30" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(Gly197=)" ""
"0000917583" "00018293" "90" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Phe)" ""
"0000917584" "00018293" "90" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Phe)" ""
"0000917585" "00018293" "90" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Phe)" ""
"0000917586" "00018293" "90" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Phe)" ""
"0000917587" "00018293" "90" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Phe)" ""
"0000917588" "00018293" "90" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Phe)" ""
"0000917896" "00018293" "70" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Cys)" ""
"0000917897" "00018293" "70" "496" "-1040" "621" "-7406" "c.496-1040_621-7406del" "r.(?)" "p.(Val166Cysfs*35)" "3i_4i"
"0000924401" "00018293" "30" "275" "-11" "275" "-10" "c.275-11_275-10del" "r.(=)" "p.(=)" ""
"0000948608" "00018293" "70" "804" "0" "804" "0" "c.804dup" "r.(?)" "p.(Pro269Thrfs*3)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 62
"{{screeningid}}" "{{variantid}}"
"0000065429" "0000097115"
"0000065430" "0000097116"
"0000065431" "0000097117"
"0000065432" "0000097118"
"0000065433" "0000097119"
"0000065433" "0000097120"
"0000065434" "0000097121"
"0000065434" "0000097122"
"0000328217" "0000712153"
"0000328217" "0000712740"
"0000328805" "0000712903"
"0000328805" "0000712904"
"0000328806" "0000712905"
"0000328806" "0000712906"
"0000328807" "0000712907"
"0000328807" "0000712908"
"0000328829" "0000712950"
"0000328830" "0000712951"
"0000328831" "0000712952"
"0000328832" "0000712953"
"0000328842" "0000712963"
"0000329116" "0000713238"
"0000329117" "0000713239"
"0000329117" "0000713240"
"0000329119" "0000713242"
"0000329560" "0000713908"
"0000329651" "0000714003"
"0000329651" "0000714004"
"0000329654" "0000714007"
"0000329655" "0000714008"
"0000329655" "0000714009"
"0000330033" "0000714456"
"0000330038" "0000714463"
"0000330039" "0000714464"
"0000330046" "0000714474"
"0000330047" "0000714475"
"0000330047" "0000714478"
"0000330048" "0000714476"
"0000330048" "0000714477"
"0000330350" "0000714935"
"0000330351" "0000714936"
"0000330352" "0000714937"
"0000334592" "0000732522"
"0000334593" "0000732523"
"0000334594" "0000732524"
"0000334596" "0000732526"
"0000334597" "0000732527"
"0000334597" "0000732528"
"0000334603" "0000732534"
"0000334604" "0000732535"
"0000334604" "0000732536"
"0000334605" "0000732537"
"0000360673" "0000760747"
"0000428230" "0000905880"
"0000432180" "0000917583"
"0000432181" "0000917584"
"0000432182" "0000917585"
"0000432183" "0000917586"
"0000432184" "0000917587"
"0000432185" "0000917588"
"0000432419" "0000917896"
"0000432419" "0000917897"