### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LPHN1)
# 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}}"
"LPHN1"	"latrophilin 1"	"19"	"p13.2"	"unknown"	"NC_000019.9"	"UD_132378743726"	""	"https://www.LOVD.nl/ADGRL1"	""	"1"	"20973"	"22859"	"616416"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">NOTE: gene name changed from LPHN1 to ADGRL1</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/LPHN1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from LPHN1 to ADGRL1</font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2022-08-08 11:13:07"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00011494"	"LPHN1"	"transcript variant 2"	"001"	"NM_014921.4"	""	"NP_055736.2"	""	""	""	"-296"	"7546"	"4410"	"14316997"	"14258549"	""	"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}}"
"05162"	"DD"	"developmental delay (DD)"	""	""	""	""	""	"00006"	"2016-05-10 21:15:54"	"00006"	"2020-05-25 13:52:33"
"05521"	"seizures"	"seizures"	""	""	""	""	""	"00006"	"2018-11-18 17:02:13"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"07141"	"DEDBANP"	"developmental delay, behavioral abnormalities, and neuropsychiatric disorders"	"AD"	"620065"	""	""	""	"00006"	"2024-12-10 18:55:27"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"LPHN1"	"05611"
"LPHN1"	"07141"


## Individuals ## Do not remove or alter this header ##
## Count = 12
"{{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}}"
"00303072"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat114"
"00415125"	""	""	""	"1"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2 generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00415126"	""	""	""	"1"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2 generation family, 1 affected, unaffected non carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Pat2"
"00415127"	""	""	""	"6"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2-generation family, affected father/3 sons/2 daughters, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	""	"FamPat3"
"00415128"	""	""	""	"1"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"sister"	"F"	""	""	""	"0"	""	""	""	"FamPat4"
"00415129"	""	""	""	"1"	""	"00006"	"{PMID:Guo 2019:30504930}, {DOI:Guo 2019:10.1038/s41436-018-0380-2}, {PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2 generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat5"
"00415130"	""	""	""	"1"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2 generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00415131"	""	""	""	"1"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2 generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat7"
"00415132"	""	""	""	"1"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2 generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat8"
"00415133"	""	""	""	"1"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2 generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00415134"	""	""	""	"3"	""	"00006"	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	"2 generation family, affected father/daughter/son; son"	"M"	""	""	""	"0"	""	""	""	"FamPat10"
"00458250"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	"312924"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 12
"{{individualid}}"	"{{diseaseid}}"
"00303072"	"05521"
"00415125"	"05611"
"00415126"	"05611"
"00415127"	"05611"
"00415128"	"05611"
"00415129"	"05611"
"00415130"	"05611"
"00415131"	"05611"
"00415132"	"05611"
"00415133"	"05611"
"00415134"	"05611"
"00458250"	"05162"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05162, 05521, 05611, 07141
## Count = 12
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000230155"	"05521"	"00303072"	"00006"	"Isolated (sporadic)"	""	"Neonatal Epileptic Encephalopathy; age onset neonatal"	""	""	""	""	""	""	""	""	"seizures"
"0000306926"	"05611"	"00415125"	"00006"	"Isolated (sporadic)"	"11y"	"birth weight 3,780g (83rd), length 53cm (95th), OFC 39cm (99th); 18m-sit; 23m-walk; 15m-first words; developmental delay; mild/moderate intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorder; hypotonia; stereotypies; no epilepsy; sleep disturbance; MRI brain normal; no facial dysmorphism; congenital macrocephaly; no overweight; joint hypermobility; hyperopia, temporary regression, megadolichocolon"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306927"	"05611"	"00415126"	"00006"	"Isolated (sporadic)"	"03y03m"	"delayed sit; delayed walk; delaye speech; developmental delay; facial dysmorphism (probably not linked to ADGRL1 variant); learning disabilities"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306928"	"05611"	"00415127"	"00006"	"Familial, autosomal dominant"	"12y01m"	"birth weight 2,950g (14th), length 50cm (55th), OFC 34.5cm (52nd); 12m-sit; 13m-walk; 24m-first words; developmental delay; mild intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorder; hypotonia; no stereotypies; no epilepsy; sleep disturbance; no facial dysmorphism; postnatal macrocephaly (93rd centile); overweight (99th centile); joint hypermobility; hyperkinetic disorder, small hands and feet"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306929"	"05611"	"00415128"	"00006"	"Familial, autosomal dominant"	"11y01m"	"birth weight 3,720g (87th), length 52cm (94th), OFC 37cm (98th); 7m-sit; 14m-walk; 12m-first words; developmental delay; mild intellectual disability (IQ 57); no autism spectrum disorder; no attention-deficit hyperactivity disorder; hypotonia; no stereotypies; no epilepsy; sleep disturbance; facial dysmorphism; macrocephaly; overweight; no joint hypermobility; small hands and feet"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306930"	"05611"	"00415129"	"00006"	"Isolated (sporadic)"	"19y"	"no developmental delay; no intellectual disability (IQ 96); autism spectrum disorder; suspected attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; no sleep disturbance; no facial dysmorphism; overweight; no joint hypermobility; poor adaptive skills, learning disabilities"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306931"	"05611"	"00415130"	"00006"	"Isolated (sporadic)"	"10y"	"11m-walk; 17m-walk; 24m-first words; developmental delay; no intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; sleep disturbance; MRI brain nodular heterotopia; facial dysmorphism; no macrocephaly; no overweight; joint hypermobility; migraine,dermatological issues, genital abnormalities, borderline short stature, advance bone age, clinodactyly"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306932"	"05611"	"00415131"	"00006"	"Isolated (sporadic)"	"13y"	"birth weight 3,000g (2–9th), length 54cm (50–75th); 14m-first words; developmental delay; borderline intellectual disability (IQ 74); no autism spectrum disorder; attention-deficit hyperactivity disorder; no hypotonia; epilepsy; sleep disturbance; MRI brain normal; facial dysmorphism; no overweight; delayed puberty"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306933"	"05611"	"00415132"	"00006"	"Isolated (sporadic)"	"10y"	"birth weight 4,470g (>97th), length 57cm (>97th); 7m-sit; 30m-walk; 36m-first words; developmental delay; no intellectual disability (IQ 109); autism spectrum disorder; no attention-deficit hyperactivity disorder; hypotonia; stereotypies; epilepsy; no sleep disturbance; MRI brain normal; facial dysmorphism; no overweight; joint hypermobility; dermatological issues, scoliosis"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306934"	"05611"	"00415133"	"00006"	"Isolated (sporadic)"	"08y"	"birth weight 4,100g (90th), length 51cm (75th), OFC 36.5cm (75th); 9m-sit; 16m-walk; 36m-first words; developmental delay; mild/moderate intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; no sleep disturbance; MRI brain normal; facial dysmorphism; macrocephaly (97th centile); no overweight; no joint hypermobility; learning disabilities"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000306935"	"05611"	"00415134"	"00006"	"Familial, autosomal dominant"	"43y"	"12m-sit; 17m-walk; 15m-first words; developmental delay; mild intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; no sleep disturbance; facial dysmorphism; no macrocephaly; overweight; no joint hypermobility; 43y-two euroendocrine pancreatic tumors"	""	""	""	""	""	""	""	"DEDBANP"	"neurodevelopmental delay"
"0000346687"	"05162"	"00458250"	"01164"	"Unknown"	"06y"	"neurodevelopmental delay, EEG abnormal, strabismus, nystagmus, failure to thrive, attention deficit hyperactivity disorder"	""	""	""	""	""	""	""	"DEDBANP"	"developmental delay"


## Screenings ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000304197"	"00303072"	"1"	"00006"	"00006"	"2020-06-05 14:49:11"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000416406"	"00415125"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416407"	"00415126"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416408"	"00415127"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416409"	"00415128"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416410"	"00415129"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416411"	"00415130"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416412"	"00415131"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416413"	"00415132"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416414"	"00415133"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000416415"	"00415134"	"1"	"00006"	"00006"	"2022-08-08 15:58:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000459872"	"00458250"	"1"	"01164"	"01164"	"2024-12-10 18:02:26"	"00006"	"2024-12-10 19:03:07"	"SEQ-NG-I"	"DNA"	"Blood"	"Gene: ADGRL1"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000304197"	"HDAC3"
"0000304197"	"LPHN1"
"0000459872"	"LPHN1"


## 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 = 26
"{{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}}"
"0000667625"	"3"	"50"	"19"	"14270952"	"14270952"	"subst"	"8.20432E-6"	"00006"	"LPHN1_000001"	"g.14270952C>T"	""	"{PMID:Helbig 2016:26795593}"	""	"NM_001008701.2:1787G>A"	""	"Germline"	""	""	"0"	""	""	"g.14160140C>T"	""	"VUS"	"ACMG"
"0000874465"	"0"	"90"	"11"	"14267505"	"14267505"	"subst"	"0"	"00006"	"LPHN1_000005"	"g.14267505A>G"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.3013T>C"	""	"De novo"	""	""	"0"	""	""	"g.14156693A>G"	""	"pathogenic (dominant)"	""
"0000874466"	"0"	"90"	"11"	"14263628"	"14263628"	"subst"	"0"	"00006"	"LPHN1_000004"	"g.14263628G>A"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.3406C>T"	""	"De novo"	""	""	"0"	""	""	"g.14152816G>A"	""	"pathogenic (dominant)"	""
"0000874467"	"11"	"90"	"11"	"14273794"	"14273794"	"subst"	"0"	"00006"	"LPHN1_000008"	"g.14273794C>T"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.834G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.14162982C>T"	""	"pathogenic (dominant)"	""
"0000874468"	"11"	"90"	"11"	"14273794"	"14273794"	"subst"	"0"	"00006"	"LPHN1_000008"	"g.14273794C>T"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.834G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.14162982C>T"	""	"pathogenic (dominant)"	""
"0000874469"	"0"	"90"	"11"	"14294389"	"14294389"	"subst"	"0"	"00006"	"LPHN1_000009"	"g.14294389C>T"	""	"{PMID:Guo 2019:30504930}, {DOI:Guo 2019:10.1038/s41436-018-0380-2}"	""	"NM_001008701.2:c.26G>A"	""	"De novo"	""	""	"0"	""	""	"g.14183577C>T"	""	"pathogenic (dominant)"	""
"0000874470"	"0"	"90"	"11"	"14263409"	"14263409"	"subst"	"0"	"00006"	"LPHN1_000003"	"g.14263409A>G"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.3455T>C"	""	"De novo"	""	""	"0"	""	""	"g.14152597A>G"	""	"pathogenic (dominant)"	""
"0000874471"	"0"	"90"	"11"	"14263373"	"14263373"	"subst"	"0"	"00006"	"LPHN1_000002"	"g.14263373G>A"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.3491C>T"	""	"De novo"	""	""	"0"	""	""	"g.14152561G>A"	""	"pathogenic (dominant)"	""
"0000874472"	"0"	"90"	"11"	"14270002"	"14270002"	"dup"	"0"	"00006"	"LPHN1_000006"	"g.14270002dup"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.2064dup"	""	"De novo"	""	""	"0"	""	""	"g.14159190dup"	""	"pathogenic (dominant)"	""
"0000874473"	"0"	"90"	"11"	"14263332"	"14263332"	"subst"	"0"	"00006"	"LPHN1_000010"	"g.14263332G>A"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.3532C>T"	""	"De novo"	""	""	"0"	""	""	"g.14152520G>A"	""	"pathogenic (dominant)"	""
"0000874474"	"11"	"90"	"11"	"14273591"	"14273591"	"subst"	"0"	"00006"	"LPHN1_000007"	"g.14273591T>C"	""	"{PMID:Vitobello 2022:35907405}, {DOI:Vitobello 2022:10.1016/j.ajhg.2022.06.011}"	""	"NM_001008701.2:c.1037A>G"	""	"Germline"	"yes"	""	"0"	""	""	"g.14162779T>C"	""	"pathogenic (dominant)"	""
"0000983245"	"0"	"30"	"19"	"14263705"	"14263705"	"subst"	"0"	"01804"	"LPHN1_000011"	"g.14263705T>C"	""	""	""	"ADGRL1(NM_014921.5):c.3314A>G (p.(Lys1105Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983246"	"0"	"30"	"19"	"14273567"	"14273567"	"subst"	"0.0011574"	"01804"	"LPHN1_000012"	"g.14273567C>T"	""	""	""	"ADGRL1(NM_014921.5):c.1046G>A (p.(Arg349His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983247"	"0"	"50"	"19"	"14288437"	"14288437"	"subst"	"4.06174E-6"	"01804"	"LPHN1_000013"	"g.14288437C>T"	""	""	""	"ADGRL1(NM_014921.5):c.190G>A (p.(Gly64Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001018813"	"0"	"50"	"19"	"14266985"	"14266985"	"subst"	"0"	"01164"	"LPHN1_000014"	"g.14266985A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.14156173A>C"	""	"VUS"	"ACMG"
"0001042679"	"0"	"50"	"19"	"14262295"	"14262295"	"subst"	"1.65139E-5"	"01804"	"LPHN1_000015"	"g.14262295C>T"	""	""	""	"ADGRL1(NM_014921.5):c.3800G>A (p.(Arg1267Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042680"	"0"	"30"	"19"	"14271039"	"14271039"	"subst"	"0.000171072"	"01804"	"LPHN1_000016"	"g.14271039G>A"	""	""	""	"ADGRL1(NM_014921.5):c.1685C>T (p.(Ala562Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001056520"	"0"	"30"	"19"	"14262173"	"14262173"	"subst"	"0.000260109"	"01804"	"LPHN1_000017"	"g.14262173C>T"	""	""	""	"ADGRL1(NM_014921.5):c.3922G>A (p.(Val1308Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001056521"	"0"	"30"	"19"	"14263421"	"14263421"	"subst"	"1.22209E-5"	"01804"	"LPHN1_000018"	"g.14263421C>T"	""	""	""	"ADGRL1(NM_014921.5):c.3428G>A (p.(Arg1143Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001056522"	"0"	"30"	"19"	"14266163"	"14266163"	"subst"	"3.66151E-5"	"01804"	"LPHN1_000019"	"g.14266163G>A"	""	""	""	"ADGRL1(NM_014921.5):c.3294+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001056523"	"0"	"30"	"19"	"14267022"	"14267022"	"subst"	"1.68973E-5"	"01804"	"LPHN1_000020"	"g.14267022G>A"	""	""	""	"ADGRL1(NM_014921.5):c.3034-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001056524"	"0"	"50"	"19"	"14267858"	"14267858"	"subst"	"0"	"01804"	"LPHN1_000021"	"g.14267858C>T"	""	""	""	"ADGRL1(NM_014921.5):c.2845G>A (p.(Glu949Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056525"	"0"	"30"	"19"	"14273780"	"14273780"	"subst"	"0.000199409"	"01804"	"LPHN1_000022"	"g.14273780G>C"	""	""	""	"ADGRL1(NM_014921.5):c.833C>G (p.(Thr278Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001056526"	"0"	"50"	"19"	"14274077"	"14274077"	"subst"	"1.22157E-5"	"01804"	"LPHN1_000023"	"g.14274077G>A"	""	""	""	"ADGRL1(NM_014921.5):c.536C>T (p.(Thr179Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056527"	"0"	"50"	"19"	"14274110"	"14274110"	"subst"	"0"	"01804"	"LPHN1_000024"	"g.14274110C>G"	""	""	""	"ADGRL1(NM_014921.5):c.503G>C (p.(Arg168Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056528"	"0"	"50"	"19"	"14294069"	"14294069"	"subst"	"0"	"01804"	"LPHN1_000025"	"g.14294069A>C"	""	""	""	"ADGRL1(NM_014921.5):c.70+276T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes LPHN1
## Count = 26
"{{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}}"
"0000667625"	"00011494"	"50"	"1772"	"0"	"1772"	"0"	"c.1772G>A"	"r.(?)"	"p.(Arg591His)"	""
"0000874465"	"00011494"	"90"	"2998"	"0"	"2998"	"0"	"c.2998T>C"	"r.(?)"	"p.(Trp1000Arg)"	""
"0000874466"	"00011494"	"90"	"3391"	"0"	"3391"	"0"	"c.3391C>T"	"r.(?)"	"p.(Arg1131Ter)"	""
"0000874467"	"00011494"	"90"	"819"	"0"	"819"	"0"	"c.819G>A"	"r.(?)"	"p.(Trp273Ter)"	""
"0000874468"	"00011494"	"90"	"819"	"0"	"819"	"0"	"c.819G>A"	"r.(?)"	"p.(Trp273Ter)"	""
"0000874469"	"00011494"	"90"	"26"	"0"	"26"	"0"	"c.26G>A"	"r.(?)"	"p.(Trp9Ter)"	""
"0000874470"	"00011494"	"90"	"3440"	"0"	"3440"	"0"	"c.3440T>C"	"r.(?)"	"p.(Met1147Thr)"	""
"0000874471"	"00011494"	"90"	"3476"	"0"	"3476"	"0"	"c.3476C>T"	"r.(?)"	"p.(Ser1159Phe)"	""
"0000874472"	"00011494"	"90"	"2049"	"0"	"2049"	"0"	"c.2049dup"	"r.(?)"	"p.(Glu684ArgfsTer113)"	""
"0000874473"	"00011494"	"90"	"3517"	"0"	"3517"	"0"	"c.3517C>T"	"r.(?)"	"p.(Arg1173Ter)"	""
"0000874474"	"00011494"	"90"	"1022"	"0"	"1022"	"0"	"c.1022A>G"	"r.(?)"	"p.(Tyr341Cys)"	""
"0000983245"	"00011494"	"30"	"3314"	"0"	"3314"	"0"	"c.3314A>G"	"r.(?)"	"p.(Lys1105Arg)"	""
"0000983246"	"00011494"	"30"	"1046"	"0"	"1046"	"0"	"c.1046G>A"	"r.(?)"	"p.(Arg349His)"	""
"0000983247"	"00011494"	"50"	"190"	"0"	"190"	"0"	"c.190G>A"	"r.(?)"	"p.(Gly64Arg)"	""
"0001018813"	"00011494"	"50"	"3062"	"0"	"3062"	"0"	"c.3062T>G"	"r.(3062T>G)"	"p.(Leu1021Arg)"	""
"0001042679"	"00011494"	"50"	"3800"	"0"	"3800"	"0"	"c.3800G>A"	"r.(?)"	"p.(Arg1267Gln)"	""
"0001042680"	"00011494"	"30"	"1685"	"0"	"1685"	"0"	"c.1685C>T"	"r.(?)"	"p.(Ala562Val)"	""
"0001056520"	"00011494"	"30"	"3922"	"0"	"3922"	"0"	"c.3922G>A"	"r.(?)"	"p.(Val1308Met)"	""
"0001056521"	"00011494"	"30"	"3428"	"0"	"3428"	"0"	"c.3428G>A"	"r.(?)"	"p.(Arg1143Gln)"	""
"0001056522"	"00011494"	"30"	"3294"	"8"	"3294"	"8"	"c.3294+8C>T"	"r.(=)"	"p.(=)"	""
"0001056523"	"00011494"	"30"	"3034"	"-9"	"3034"	"-9"	"c.3034-9C>T"	"r.(=)"	"p.(=)"	""
"0001056524"	"00011494"	"50"	"2845"	"0"	"2845"	"0"	"c.2845G>A"	"r.(?)"	"p.(Glu949Lys)"	""
"0001056525"	"00011494"	"30"	"833"	"0"	"833"	"0"	"c.833C>G"	"r.(?)"	"p.(Thr278Ser)"	""
"0001056526"	"00011494"	"50"	"536"	"0"	"536"	"0"	"c.536C>T"	"r.(?)"	"p.(Thr179Met)"	""
"0001056527"	"00011494"	"50"	"503"	"0"	"503"	"0"	"c.503G>C"	"r.(?)"	"p.(Arg168Pro)"	""
"0001056528"	"00011494"	"50"	"70"	"276"	"70"	"276"	"c.70+276T>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}"	"{{variantid}}"
"0000304197"	"0000667625"
"0000416406"	"0000874465"
"0000416407"	"0000874466"
"0000416408"	"0000874467"
"0000416409"	"0000874468"
"0000416410"	"0000874469"
"0000416411"	"0000874470"
"0000416412"	"0000874471"
"0000416413"	"0000874472"
"0000416414"	"0000874473"
"0000416415"	"0000874474"
"0000459872"	"0001018813"