### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CNTN1)
# 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}}"
"CNTN1" "contactin 1" "12" "q11-q12" "unknown" "NG_012058.2" "UD_134408435703" "" "https://www.LOVD.nl/CNTN1" "" "1" "2171" "1272" "600016" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/CNTN1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2018-01-14 20:54:48" "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}}"
"00005422" "CNTN1" "transcript variant 1" "001" "NM_001843.3" "" "NP_001834.2" "" "" "" "-227" "5434" "3057" "41086244" "41466214" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51"
"03150" "MYPCN" "myopathy, congenital, Compton-North (MYPCN)" "AR" "612540" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"CNTN1" "03150"
## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00151374" "" "" "" "4" "" "00006" "{PMID:Jones 2003:12899872}" "5-generation family, 4 affecteds, 9 carriers, consanguineous parents (1st degree)" "M" "yes" "Egypt" "0d" "0" "" "" "" ""
"00151375" "" "" "00151374" "1" "" "00006" "{PMID:Jones 2003:12899872}" "brother of 19026398-V.2" "M" "yes" "Egypt" "0d" "0" "" "" "" ""
"00151376" "" "" "00151374" "1" "" "00006" "{PMID:Jones 2003:12899872}" "sister of 19026398-V.2" "F" "yes" "Egypt" "0d" "0" "" "" "" ""
"00151377" "" "" "00151374" "1" "" "00006" "{PMID:Jones 2003:12899872}" "niece of 19026398-V.2" "F" "yes" "Egypt" "1m" "0" "" "" "" ""
"00163650" "" "" "" "1" "" "02440" "" "Fetus, TOP 24th GW" "F" "no" "Germany" "" "0" "yes" "none" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00151374" "03150"
"00151375" "03150"
"00151376" "03150"
"00151377" "03150"
"00163650" "00026"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00026, 03150
## Count = 5
"{{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}}"
"0000123768" "03150" "00151374" "00006" "Familial, autosomal recessive" "" "2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth" "" "" "" "" "" "" "" "" ""
"0000123769" "03150" "00151375" "00006" "Familial, autosomal recessive" "" "2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth" "" "" "" "" "" "" "" "" ""
"0000123770" "03150" "00151376" "00006" "Familial, autosomal recessive" "" "2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth" "" "" "" "" "" "" "" "" ""
"0000123771" "03150" "00151377" "00006" "Familial, autosomal recessive" "" "2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); birth-required intubation/ventilation, low weight, hypotonic (absent deep tendon reflexes), scaphocephaly, oval face, hypertelorism, high arched palate; died from respiratory failure; normal CPK level" "" "" "" "" "" "" "" "" ""
"0000128786" "00026" "00163650" "02440" "Familial, autosomal recessive" "" "Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)" "" "" "" "" "" "" "" "Multiple pterygium syndrome, lethal type" "Fetal akinesia deformation sequence"
## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000152229" "00151374" "1" "00006" "00006" "2010-03-18 01:33:08" "00006" "2012-03-04 15:56:04" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000152230" "00151375" "1" "00006" "00006" "2010-03-20 17:25:00" "00006" "2012-03-04 15:56:04" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000152231" "00151376" "1" "00006" "00006" "2010-03-20 17:25:00" "00006" "2012-03-04 15:56:04" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000152232" "00151377" "1" "00006" "00006" "2010-03-20 17:25:00" "00006" "2012-03-04 15:56:04" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000164515" "00163650" "1" "02440" "02440" "2018-04-03 16:54:13" "" "" "SEQ-NG-I" "DNA" "Umbilical cord" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}" "{{geneid}}"
"0000152229" "CNTN1"
"0000152230" "CNTN1"
"0000152231" "CNTN1"
"0000152232" "CNTN1"
"0000164515" "CHRNA1"
"0000164515" "CHRNB1"
"0000164515" "CHRND"
"0000164515" "CHRNE"
"0000164515" "CHRNG"
"0000164515" "CNTN1"
"0000164515" "DOK7"
"0000164515" "KLHL40"
"0000164515" "MTM1"
"0000164515" "MUSK"
"0000164515" "NALCN"
"0000164515" "RAPSN"
"0000164515" "UBA1"
## 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 = 18
"{{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}}"
"0000245348" "3" "90" "12" "41327566" "41327566" "dup" "0" "00006" "CNTN1_000001" "g.41327566dup" "" "{PMID:Compton 2008:19026398}, {OMIM600016:0001}" "" "871dupT" "mapped by linkage; not in 242 control chromosomes; CNTN1 expression 8-16x reduced" "Germline" "" "" "0" "" "" "g.40933764dup" "" "pathogenic" ""
"0000245349" "3" "90" "12" "41327566" "41327566" "dup" "0" "00006" "CNTN1_000001" "g.41327566dup" "" "{PMID:Compton 2008:19026398}, {OMIM600016:0001}" "" "871dupT" "mapped by linkage; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.40933764dup" "" "pathogenic" ""
"0000245350" "3" "90" "12" "41327566" "41327566" "dup" "0" "00006" "CNTN1_000001" "g.41327566dup" "" "{PMID:Compton 2008:19026398}, {OMIM600016:0001}" "" "871dupT" "mapped by linkage; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.40933764dup" "" "pathogenic" ""
"0000245351" "3" "90" "12" "41327566" "41327566" "dup" "0" "00006" "CNTN1_000001" "g.41327566dup" "" "{PMID:Compton 2008:19026398}, {OMIM600016:0001}" "" "871dupT" "mapped by linkage; not in 242 control chromosomes" "Germline" "" "" "0" "" "" "g.40933764dup" "" "pathogenic" ""
"0000255276" "0" "30" "12" "41327491" "41327491" "subst" "0.00127851" "01943" "CNTN1_000003" "g.41327491A>G" "" "" "" "CNTN1(NM_001843.3):c.804-8A>G, CNTN1(NM_001843.4):c.804-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40933689A>G" "" "likely benign" ""
"0000266858" "0" "10" "12" "41330611" "41330611" "subst" "0.115613" "02325" "CNTN1_000005" "g.41330611T>C" "" "" "" "CNTN1(NM_001843.4):c.1014T>C (p.N338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40936809T>C" "" "benign" ""
"0000266859" "0" "10" "12" "41374697" "41374697" "subst" "0.111189" "02325" "CNTN1_000007" "g.41374697C>A" "" "" "" "CNTN1(NM_001843.4):c.1805-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40980895C>A" "" "benign" ""
"0000273699" "0" "30" "12" "41312535" "41312535" "subst" "8.13326E-5" "01943" "CNTN1_000002" "g.41312535C>T" "" "" "" "CNTN1(NM_001843.3):c.189C>T (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40918733C>T" "" "likely benign" ""
"0000322751" "0" "50" "12" "41330603" "41330603" "subst" "0.00010186" "01804" "CNTN1_000004" "g.41330603C>T" "" "" "" "CNTN1(NM_001256063.1):c.1006C>T (p.(His336Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40936801C>T" "" "VUS" ""
"0000322752" "0" "50" "12" "41330621" "41330621" "subst" "9.78155E-5" "01804" "CNTN1_000006" "g.41330621G>A" "" "" "" "CNTN1(NM_001256063.1):c.1024G>A (p.(Val342Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40936819G>A" "" "VUS" ""
"0000367749" "0" "10" "12" "41337435" "41337435" "subst" "0.621693" "02440" "CNTN1_000008" "g.41337435C>T" "0.65 controls" "" "" "" "" "Unknown" "?" "rs1056019" "0" "" "" "g.40943633C>T" "" "benign" ""
"0000548083" "0" "10" "12" "41337435" "41337435" "subst" "0.621693" "02325" "CNTN1_000008" "g.41337435C>T" "" "" "" "CNTN1(NM_001843.4):c.1416C>T (p.N472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40943633C>T" "" "benign" ""
"0000614142" "0" "30" "12" "41374862" "41374862" "subst" "0.0400142" "01804" "CNTN1_000012" "g.41374862A>G" "" "" "" "CNTN1(NM_001843.3):c.1956A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40981060A>G" "" "likely benign" ""
"0000679513" "0" "30" "12" "41316243" "41316243" "subst" "0.000903453" "02326" "CNTN1_000013" "g.41316243T>C" "" "" "" "CNTN1(NM_001843.4):c.400+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679514" "0" "30" "12" "41327491" "41327491" "subst" "0.00127851" "02326" "CNTN1_000003" "g.41327491A>G" "" "" "" "CNTN1(NM_001843.3):c.804-8A>G, CNTN1(NM_001843.4):c.804-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691333" "0" "30" "12" "41337420" "41337420" "subst" "0.00187995" "02326" "CNTN1_000014" "g.41337420T>C" "" "" "" "CNTN1(NM_001843.4):c.1401T>C (p.G467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039215" "0" "50" "12" "41418986" "41418986" "subst" "0" "01804" "CNTN1_000015" "g.41418986C>G" "" "" "" "CNTN1(NM_001843.4):c.2558C>G (p.(Ala853Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054281" "0" "50" "12" "41302274" "41302274" "subst" "4.07309E-6" "01804" "CNTN1_000016" "g.41302274T>A" "" "" "" "CNTN1(NM_001843.4):c.40T>A (p.(Ser14Thr))" "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 CNTN1
## Count = 18
"{{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}}"
"0000245348" "00005422" "90" "871" "0" "871" "0" "c.871dup" "r.871dup" "p.Ser291Phefs*6" "8"
"0000245349" "00005422" "90" "871" "0" "871" "0" "c.871dup" "r.871dup" "p.Ser291Phefs*6" "8"
"0000245350" "00005422" "90" "871" "0" "871" "0" "c.871dup" "r.871dup" "p.Ser291Phefs*6" "8"
"0000245351" "00005422" "90" "871" "0" "871" "0" "c.871dup" "r.871dup" "p.Ser291Phefs*6" "8"
"0000255276" "00005422" "30" "804" "-8" "804" "-8" "c.804-8A>G" "r.(=)" "p.(=)" ""
"0000266858" "00005422" "10" "1014" "0" "1014" "0" "c.1014T>C" "r.(?)" "p.(Asn338=)" ""
"0000266859" "00005422" "10" "1805" "-14" "1805" "-14" "c.1805-14C>A" "r.(=)" "p.(=)" ""
"0000273699" "00005422" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Leu63=)" ""
"0000322751" "00005422" "50" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(His336Tyr)" ""
"0000322752" "00005422" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Val342Met)" ""
"0000367749" "00005422" "10" "1416" "0" "1416" "0" "c.1416C>T" "r.(=)" "p.(=)" ""
"0000548083" "00005422" "10" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Asn472=)" ""
"0000614142" "00005422" "30" "1956" "0" "1956" "0" "c.1956A>G" "r.(?)" "p.(Ala652=)" ""
"0000679513" "00005422" "30" "400" "13" "400" "13" "c.400+13T>C" "r.(=)" "p.(=)" ""
"0000679514" "00005422" "30" "804" "-8" "804" "-8" "c.804-8A>G" "r.(=)" "p.(=)" ""
"0000691333" "00005422" "30" "1401" "0" "1401" "0" "c.1401T>C" "r.(?)" "p.(Gly467=)" ""
"0001039215" "00005422" "50" "2558" "0" "2558" "0" "c.2558C>G" "r.(?)" "p.(Ala853Gly)" ""
"0001054281" "00005422" "50" "40" "0" "40" "0" "c.40T>A" "r.(?)" "p.(Ser14Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{variantid}}"
"0000152229" "0000245348"
"0000152230" "0000245349"
"0000152231" "0000245350"
"0000152232" "0000245351"
"0000164515" "0000367749"