### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RIPK4) # 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}}" "RIPK4" "receptor-interacting serine-threonine kinase 4" "21" "q22.3" "unknown" "NG_032113.2" "UD_132439023024" "" "https://www.LOVD.nl/RIPK4" "" "1" "496" "54101" "605706" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RIPK4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-15 08:48:44" "00006" "2025-11-13 13:04:16" ## 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}}" "00017794" "RIPK4" "receptor-interacting serine-threonine kinase 4" "001" "NM_020639.2" "" "NP_065690.2" "" "" "" "-48" "3824" "2355" "43187249" "43159529" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00753" "BPS" "Bartsocas-Papas syndrome" "AR" "" "" "orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; nails; (oligodontia)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-06 15:44:51" "00866" "PPS" "popliteal pterygium syndrome" "AD" "119500" "" "orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; no sparse hair; lip pits; nails; hypodontia" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-06 15:17:19" "05853" "CHANDS" "CHAND syndrome" "AR" "214350" "" "" "" "00006" "2020-10-15 08:50:59" "00006" "2021-12-10 21:51:32" "07151" "BPS1" "Popliteal pterygium syndrome, Bartsocas-Papas type 1" "AR" "263650" "" "orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; nails; (oligodontia)" "" "00006" "2025-02-06 15:46:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RIPK4" "00753" "RIPK4" "05853" "RIPK4" "07151" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00292998" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292999" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314711" "" "" "" "2" "" "01793" "{PMID:Dincer 2021:33713555}" "5-generation family, 2 affected fetuses, unaffected heterozygous carrier parents/relatives" "" "yes" "Turkey" "" "0" "" "" "" "FamPatV2" "00314734" "" "" "" "6" "" "00006" "{PMID:Kalay 2012:22197489}" "6-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Fam1PatVI3" "00314735" "" "" "00314734" "1" "" "00006" "{PMID:Kalay 2012:22197489}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Fam1PatV12" "00314736" "" "" "" "1" "" "00006" "{PMID:Kalay 2012:22197489}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "57d" "0" "" "" "" "Fam2PatIV1" "00314737" "" "" "" "1" "" "00006" "{PMID:Kalay 2012:22197489}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "3m15d" "0" "" "" "" "Fam3PatIV1" "00462239" "" "" "" "1" "" "00006" "{PMID:Mitchell 2012:22197488}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00462240" "" "" "" "1" "" "00006" "{PMID:Shanske 2004:15264293}, {PMID:Mitchell 2012:22197488}" "2-generation family, 2 affected fetuses (F, M), unaffected parents" "F;M" "yes" "Gambia" "" "0" "" "" "" "patient;Pat2" "00462243" "" "" "" "1" "" "00006" "{PMID:Leslie 2015:25691407}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "" "" "0" "" "" "" "PPS2" "00462244" "" "" "" "1" "" "00006" "{PMID:Leslie 2015:25691407}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "PPS3" "00462245" "" "" "" "1" "" "00006" "{PMID:Leslie 2015:25691407}" "2-generation family, 1 affected/1 affected fetus, unaffected heterozygous carrier first-cousin parents" "F" "yes" "" "" "0" "" "" "" "BPS1" "00462246" "" "" "" "1" "" "00006" "{PMID:Leslie 2015:25691407}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "BPS2" "00462248" "" "" "" "1" "" "00006" "{PMID:Busa 2017:28940926}" "2-generation family, affected fetus (17w), unaffected heterozygous carrier parents" "F" "yes" "Morocco" "<00y00m00d" "0" "" "" "" "Pat1" "00462249" "" "" "" "1" "" "00006" "{PMID:Busa 2017:28940926}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Tunisia" "" "0" "" "" "" "Pat2" "00462250" "" "" "" "3" "" "00006" "5-generation family, 3 affected (2f, M), unaffected heterozygous carrier parents/relatives" "{PMID:Gollasch 2015:26129644}" "F;M" "yes" "Kuwait" "" "0" "" "" "" "family" "00469289" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469290" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00292998" "00198" "00292999" "00198" "00314711" "00753" "00314734" "00198" "00314735" "00198" "00314736" "00198" "00314737" "00198" "00462239" "00753" "00462240" "00753" "00462243" "00866" "00462244" "00866" "00462245" "00753" "00462246" "00753" "00462248" "00753" "00462249" "05853" "00462250" "05853" "00469289" "00198" "00469290" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00753, 00866, 05853, 07151 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000238513" "00753" "00314711" "01793" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., 17w-pregnancy terminated, severe intrauterine developmental abnormalities" "" "" "" "" "" "" "" "" "BPS" "severe intrauterine developmental abnormalities" "" "0000238536" "00198" "00314734" "00006" "Familial, autosomal recessive" "18m" "birth weight 2350 g; alopecia; ectropion, no lagophthalmos, keratitis; corneal ulcerations; colobomas lower eyelids; ankyloblepharon, blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; irregular mouth border; hypoplastic oral cavity, hypoplastic nasopharyngeal cavity; orolabial synechia (filiform bands between jaws); unilateral cleft lip, cleft palate; low set ears; expressionless face; upward slanting palpebral fissures; short neck; micrognathia; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; absence palmar/plantar lines; arthrogryposis; clubfoot deformity; flexion contractures; popliteal pterygia, no axillary pterygia, inguinal pterygia; filiform bands between feet, filiform bands between feet and pelvic region; no anal stenosis, no atresia, no rectal polyps or skin tags; bicornuate-bicollis uterus; hypoplastic labia major; low set umbilicus; no inguinal hernia; hypoplasia metacarpals, hypoplasia phalanges; no hypoplasia iliac wing, hypoplasia pelvic bones; MRI cranium normal; abdominal and renal USG normal; asymmetric nipples, wide-set nipples; patent foramen ovale; ECG mitral regurgitation; no pulmonary hypoplasia" "" "" "" "" "" "" "" "" "BPS" "popliteal pterygium syndrome (Bartsocas-Papas syndrome)" "" "0000238537" "00198" "00314735" "00006" "Familial, autosomal recessive" "13y" "birth weight 3050 g, height 37.4 cm; alopecia; ectropion, no lagophthalmos, keratitis; corneal ulcerations; no colobomas lower eyelids; ankyloblepharon, blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; irregular mouth border; hypoplastic oral cavity, hypoplastic nasopharyngeal cavity; orolabial synechia (filiform bands between jaws); no cleft lip, no cleft palate; low set ears; expressionless face; upward slanting palpebral fissures; short neck; micrognathia; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; absence palmar/plantar lines; arthrogryposis; clubfoot deformity; flexion contractures; popliteal pterygia, no axillary pterygia, inguinal pterygia; filiform bands between feet, no filiform bands between feet and pelvic region; anal stenosis, no atresia, rectal polyps or skin tags; hypoplastic labia major; low set umbilicus; no inguinal hernia; hypoplasia metacarpals, hypoplasia phalanges; hypoplasia iliac wing, hypoplasia pelvic bones, hypoplasia scapula; MRI cranium normal; abdominal and renal USG normal; no dry, scaly skin; asymmetric nipples, wide-set nipples; no cardiac murmur; ECG normal; no pulmonary hypoplasia; no mental retardation" "" "" "" "" "" "" "" "" "BPS" "popliteal pterygium syndrome (Bartsocas-Papas syndrome)" "" "0000238538" "00198" "00314736" "00006" "Familial, autosomal recessive" "57d" "57d-deceased; birth weight 2200 g, height 35 cm; alopecia; ectropion, lagophthalmos, keratitis; corneal ulcerations; no ankyloblepharon, no blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; irregular mouth border; orolabial synechia (filiform bands between jaws); bilateral cleft lip, cleft palate; low set ears; expressionless face; upward slanting palpebral fissures; no short neck; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; absence palmar/plantar lines; clubfoot deformity; flexion contractures; popliteal pterygia, axillary pterygia, inguinal pterygia; no filiform bands between feet, filiform bands between feet and pelvic region; no anal stenosis, no atresia, no rectal polyps or skin tags; micropenis, hypoplastic scrotum; low set umbilicus; inguinal hernia; unilateral left radius aplasia; bowing of ulnae; hypoplasia metacarpals, hypoplasia phalanges; hypoplasia iliac wing; USG ectopic kidney; dry, scaly skin; no asymmetric nipples, wide-set nipples; no cardiac murmur; no pulmonary hypoplasia" "" "" "" "" "" "" "" "" "BPS" "popliteal pterygium syndrome (Bartsocas-Papas syndrome)" "" "0000238539" "00198" "00314737" "00006" "Familial, autosomal recessive" "3m15d" "3.5m-deceased; alopecia; no ectropion, no lagophthalmos; corneal ulcerations; colobomas lower eyelids; ankyloblepharon, blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; absent mouth border; no mouth opening; no cleft lip, no cleft palate; no low set ears; expressionless face; upward slanting palpebral fissures; short neck; micrognathia; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; flexion contractures; popliteal pterygia, axillary pterygia, inguinal pterygia; anal stenosis, no atresia, rectal polyps or skin tags; hypoplastic labia major; low set umbilicus; no radius aplasia; no bowing of ulnae; hypoplasia metacarpals, hypoplasia phalanges; dry, scaly skin; asymmetric nipples, wide-set nipples" "" "" "" "" "" "" "" "" "BPS" "popliteal pterygium syndrome (Bartsocas-Papas syndrome)" "" "0000349740" "00753" "00462239" "00006" "Familial, autosomal recessive" "" "see paper; ..., pregnancy multiple congenital abnormalities; 1w preterm fetal bradycardia; birth weight 2.95kg, OFC 34cm; alopecia totalis, sparse scalp hair, partial ankyloblepharon, oral synechia partial occlusion oral cavity, hypertelorism, cloudy corneas, absent thumbs, finger oligosyndactyly, hypoplastic genitalia, extensive popliteal pterygia, toe oligosyndactyly, multiple skin tags, unusual fibrous tethers between feet/suprapubic region" "" "" "" "" "" "" "" "" "BPS" "multiple congenital abnormalities" "" "0000349743" "00866" "00462243" "00006" "Familial, autosomal recessive" "" "see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; no syndactyly; genital hypoplasia; sparse hair; lip pits" "" "" "" "" "" "" "" "" "BPS1" "popliteal pterygia syndrome" "" "0000349744" "00866" "00462244" "00006" "Familial, autosomal recessive" "" "see paper; ..., orofacial clefting; pterygia; no ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; dysplastic nails; hypodontia; dramatic malformation of the toes" "" "" "" "" "" "" "" "" "BPS1" "popliteal pterygia syndrome" "" "0000349745" "00753" "00462245" "00006" "Familial, autosomal recessive" "" "see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; hypoplastic nails" "" "" "" "" "" "" "" "" "BPS1" "Bartsocas-Papas syndrome" "" "0000349746" "00753" "00462246" "00006" "Familial, autosomal recessive" "" "see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; genital hypoplasia; sparse hair; lip pits; bilateral cleft lip/palate, lower lip pits, bands between jaws, bilateral club feet, popliteal pterygia, no eyelashes, no eyebrows, sparse scalp hair, brittle nails, absent/small toenails, III-IV-V syndactyly right foot, triangular overgrowth skin over nail first right toe" "" "" "" "" "" "" "" "" "BPS1" "Bartsocas-Papas syndrome" "" "0000349748" "00753" "00462248" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., 17w-aborted fetus (facial cleft, omphalocele, fetal immobility, arthrogryposis); facial appearance Bartsocas-Papas syndrome (no eyelids, bilateral labio-maxillo palatal cleft, nasal hypoplasia, small ears attached to scalp), small omphalocele, multiple pterygia upper/lower limbs, syndactyly hands/feet, club feet, anal atresia, absence external genitalia male fetus" "" "" "" "" "" "" "" "" "BPS1" "Bartsocas-Papas syndrome" "" "0000349749" "05853" "00462249" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., birth-38w, weight 2820g (20th centile), length 47cm (13th centile), OFC 34cm (41th centile), ankyloblepharon (required early surgery; ECG normal, ultrasound brain normal, normal retina; abdominal ultrasound unilateral ureteral dilatation; 1m-nail dysplasia, dry skin, bifid tongue, multiple oral frenula; 3y-deciduous teeth normal, hair curly, hair wooly, hair sparse; normal growth parameters; normal motor development, 13m-walk; slight speech delay,attended regular school" "" "" "" "" "" "" "" "" "CHAND" "CHAND syndrome" "" "0000349750" "05853" "00462250" "00006" "Familial, autosomal recessive" "" "see paper; ..., ankyloblepharon, sparse hair, curly hair, hypoplastic nails" "" "" "" "" "" "" "" "" "CHAND" "CHAND syndrome" "" "0000354442" "00198" "00469289" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354443" "00198" "00469290" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294166" "00292998" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294167" "00292999" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315884" "00314711" "1" "01793" "01793" "2020-10-14 19:15:20" "" "" "SEQ" "DNA" "blood" "" "0000315907" "00314734" "1" "00006" "00006" "2020-10-15 09:30:22" "" "" "SEQ" "DNA" "" "" "0000315908" "00314735" "1" "00006" "00006" "2020-10-15 09:30:22" "" "" "SEQ" "DNA" "" "" "0000315909" "00314736" "1" "00006" "00006" "2020-10-15 09:30:22" "" "" "SEQ" "DNA" "" "" "0000315910" "00314737" "1" "00006" "00006" "2020-10-15 09:30:22" "" "" "SEQ" "DNA" "" "" "0000463871" "00462239" "1" "00006" "00006" "2025-02-06 14:38:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463872" "00462240" "1" "00006" "00006" "2025-02-06 15:00:26" "" "" "SEQ" "DNA" "" "" "0000463875" "00462243" "1" "00006" "00006" "2025-02-06 16:00:06" "" "" "SEQ" "DNA" "" "" "0000463876" "00462244" "1" "00006" "00006" "2025-02-06 16:00:06" "" "" "SEQ" "DNA" "" "" "0000463877" "00462245" "1" "00006" "00006" "2025-02-06 16:00:06" "" "" "SEQ" "DNA" "" "" "0000463878" "00462246" "1" "00006" "00006" "2025-02-06 16:00:06" "" "" "SEQ" "DNA" "" "" "0000463880" "00462248" "1" "00006" "00006" "2025-02-06 16:14:03" "" "" "SEQ" "DNA" "" "" "0000463881" "00462249" "1" "00006" "00006" "2025-02-06 16:22:39" "" "" "SEQ" "DNA" "" "" "0000463882" "00462250" "1" "00006" "00006" "2025-02-06 17:04:16" "" "" "SEQ" "DNA" "" "" "0000470957" "00469289" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470958" "00469290" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000315884" "RIPK4" "0000315907" "RIPK4" "0000315908" "RIPK4" "0000315909" "RIPK4" "0000315910" "RIPK4" "0000463872" "RIPK4" "0000463875" "RIPK4" "0000463876" "RIPK4" "0000463877" "RIPK4" "0000463878" "RIPK4" "0000463880" "RIPK4" "0000463881" "RIPK4" "0000463881" "TP63" "0000463882" "RIPK4" ## 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 = 37 "{{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}}" "0000297670" "0" "10" "21" "43187043" "43187043" "subst" "0.105621" "02325" "RIPK4_000008" "g.43187043C>T" "" "" "" "RIPK4(NM_020639.3):c.159G>A (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41766883C>T" "" "benign" "" "0000297671" "0" "10" "21" "43161357" "43161357" "subst" "0.966531" "02325" "RIPK4_000003" "g.43161357T>C" "" "" "" "RIPK4(NM_020639.3):c.1996A>G (p.M666V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41741197T>C" "" "benign" "" "0000297672" "0" "10" "21" "43187167" "43187167" "subst" "0.134375" "02325" "RIPK4_000009" "g.43187167G>C" "" "" "" "RIPK4(NM_020639.3):c.35C>G (p.A12G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767007G>C" "" "benign" "" "0000297673" "0" "10" "21" "43169357" "43169357" "subst" "0.07728" "02325" "RIPK4_000006" "g.43169357C>T" "" "" "" "RIPK4(NM_020639.3):c.630G>A (p.A210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41749197C>T" "" "benign" "" "0000299325" "0" "90" "21" "43171259" "43171259" "subst" "0" "02329" "RIPK4_000007" "g.43171259G>C" "" "" "" "RIPK4(NM_020639.3):c.621C>G (p.Y207*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41751099G>C" "" "pathogenic" "" "0000307111" "0" "30" "21" "43162155" "43162155" "subst" "0.000269865" "01943" "RIPK4_000005" "g.43162155G>C" "" "" "" "RIPK4(NM_020639.2):c.1198C>G (p.L400V, p.(Leu400Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41741995G>C" "" "likely benign" "" "0000307112" "0" "50" "21" "43161624" "43161624" "subst" "8.20304E-6" "01943" "RIPK4_000004" "g.43161624C>T" "" "" "" "RIPK4(NM_020639.2):c.1729G>A (p.A577T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41741464C>T" "" "VUS" "" "0000307113" "0" "30" "21" "43161111" "43161111" "subst" "4.51898E-5" "01943" "RIPK4_000002" "g.43161111C>T" "" "" "" "RIPK4(NM_020639.2):c.2242G>A (p.A748T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41740951C>T" "" "likely benign" "" "0000307114" "0" "30" "21" "43161030" "43161030" "subst" "0.000514076" "01943" "RIPK4_000001" "g.43161030C>T" "" "" "" "RIPK4(NM_020639.2):c.2323G>A (p.A775T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41740870C>T" "" "likely benign" "" "0000570669" "0" "10" "21" "43161469" "43161469" "subst" "0.00541534" "01943" "RIPK4_000010" "g.43161469G>A" "" "" "" "RIPK4(NM_020639.2):c.1884C>T (p.S628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41741309G>A" "" "benign" "" "0000570670" "0" "30" "21" "43162155" "43162155" "subst" "0.000269865" "01804" "RIPK4_000005" "g.43162155G>C" "" "" "" "RIPK4(NM_020639.2):c.1198C>G (p.L400V, p.(Leu400Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41741995G>C" "" "likely benign" "" "0000570672" "0" "30" "21" "43166866" "43166866" "subst" "0.000145211" "01804" "RIPK4_000012" "g.43166866C>T" "" "" "" "RIPK4(NM_020639.2):c.739G>A (p.(Val247Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41746706C>T" "" "likely benign" "" "0000650855" "1" "50" "21" "43161469" "43161469" "subst" "0.00541534" "03575" "RIPK4_000010" "g.43161469G>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs55812846}" "Germline" "" "rs55812846" "0" "" "" "g.41741309G>A" "" "VUS" "" "0000650856" "1" "90" "21" "43166005" "43166005" "subst" "4.06121E-6" "03575" "RIPK4_000014" "g.43166005C>T" "1/2763 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199835696}" "Germline" "" "rs199835696" "0" "" "" "g.41745845C>T" "" "pathogenic" "" "0000697989" "3" "90" "21" "43171399" "43171399" "subst" "0" "01793" "RIPK4_000015" "g.43171399C>G" "" "{PMID:Dincer 2021:33713555}" "" "" "" "Germline" "" "" "0" "" "" "g.41751239C>G" "" "pathogenic (recessive)" "" "0000698012" "3" "90" "21" "43176797" "43176797" "subst" "0" "00006" "RIPK4_000018" "g.43176797A>T" "" "{PMID:Kalay 2012:22197489}" "" "" "" "Germline" "" "" "0" "" "" "g.41756637A>T" "" "pathogenic (recessive)" "" "0000698013" "3" "90" "21" "43176797" "43176797" "subst" "0" "00006" "RIPK4_000018" "g.43176797A>T" "" "{PMID:Kalay 2012:22197489}" "" "" "" "Germline" "" "" "0" "" "" "g.41756637A>T" "" "pathogenic (recessive)" "" "0000698014" "3" "90" "21" "43171329" "43171329" "subst" "0" "00006" "RIPK4_000017" "g.43171329G>A" "" "{PMID:Kalay 2012:22197489}" "" "" "" "Germline" "" "" "0" "" "" "g.41751169G>A" "" "pathogenic (recessive)" "" "0000698015" "3" "90" "21" "43166828" "43166828" "dup" "0" "00006" "RIPK4_000016" "g.43166828dup" "" "{PMID:Kalay 2012:22197489}" "" "777_778insA" "" "Germline" "" "" "0" "" "" "g.41746668dup" "" "pathogenic (recessive)" "" "0000895478" "0" "50" "21" "43187095" "43187095" "subst" "0" "02325" "RIPK4_000019" "g.43187095A>G" "" "" "" "RIPK4(NM_020639.3):c.107T>C (p.V36A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983983" "0" "30" "21" "43164137" "43164137" "subst" "0.000337456" "01804" "RIPK4_000021" "g.43164137C>A" "" "" "" "RIPK4(NM_020639.3):c.1100G>T (p.(Ser367Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983984" "0" "30" "21" "43166771" "43166771" "subst" "0.000991557" "01804" "RIPK4_000022" "g.43166771A>G" "" "" "" "RIPK4(NM_020639.3):c.832+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001023928" "3" "90" "21" "43164110" "43164110" "subst" "0" "00006" "RIPK4_000023" "g.43164110G>T" "" "{PMID:Mitchell 2012:22197488}" "" "" "" "Germline" "" "" "0" "" "" "g.41743950G>T" "" "pathogenic (recessive)" "" "0001023929" "3" "90" "21" "43176917" "43176917" "subst" "4.06114E-6" "00006" "RIPK4_000024" "g.43176917A>T" "" "{PMID:Mitchell 2012:22197488}" "" "" "" "Germline" "" "" "0" "" "" "g.41756757A>T" "" "pathogenic (recessive)" "" "0001023932" "21" "90" "21" "43161500" "43161500" "subst" "1.66513E-5" "00006" "RIPK4_000025" "g.43161500C>T" "" "{PMID:Leslie 2015:25691407}" "" "" "maternal isodisomy chromosome 21" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.41741340C>T" "" "pathogenic (recessive)" "" "0001023933" "3" "90" "21" "43162011" "43162011" "subst" "0" "00006" "RIPK4_000027" "g.43162011C>G" "" "{PMID:Leslie 2015:25691407}" "" "" "" "Germline" "" "" "0" "" "" "g.41741851C>G" "" "pathogenic (recessive)" "" "0001023934" "3" "90" "21" "43171314" "43171314" "subst" "0" "00006" "RIPK4_000028" "g.43171314G>A" "" "{PMID:Leslie 2015:25691407}" "" "" "" "Germline" "" "" "0" "" "" "g.41751154G>A" "" "pathogenic (recessive)" "" "0001023935" "3" "90" "21" "43161500" "43161500" "subst" "1.66513E-5" "00006" "RIPK4_000025" "g.43161500C>T" "" "{PMID:Leslie 2015:25691407}" "" "" "" "Germline" "" "" "0" "" "" "g.41741340C>T" "" "pathogenic (recessive)" "" "0001023937" "21" "90" "21" "43161500" "43161500" "subst" "1.66513E-5" "00006" "RIPK4_000025" "g.43161500C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41741340C>T" "" "pathogenic (recessive)" "" "0001023938" "3" "90" "21" "43164163" "43164163" "dup" "0" "00006" "RIPK4_000026" "g.43164163dup" "" "{PMID:Busa 2017:28940926}" "" "1074dupT" "" "Germline" "" "" "0" "" "" "g.41744003dup" "" "pathogenic (recessive)" "" "0001023939" "3" "90" "21" "43166005" "43166005" "subst" "4.06121E-6" "00006" "RIPK4_000014" "g.43166005C>T" "" "{PMID:Busa 2017:28940926}" "" "" "" "Germline" "" "" "0" "" "" "g.41745845C>T" "" "pathogenic (recessive)" "" "0001023940" "3" "90" "21" "43166005" "43166005" "subst" "4.06121E-6" "00006" "RIPK4_000014" "g.43166005C>T" "" "{PMID:Gollasch 2015:26129644}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41745845C>T" "" "pathogenic (recessive)" "" "0001043591" "0" "30" "21" "43187010" "43187010" "subst" "4.49107E-6" "01804" "RIPK4_000029" "g.43187010G>A" "" "" "" "RIPK4(NM_020639.3):c.182+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057013" "0" "50" "21" "43171386" "43171386" "subst" "0" "01804" "RIPK4_000030" "g.43171386G>A" "" "" "" "RIPK4(NM_020639.3):c.494C>T (p.(Ala165Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057014" "0" "50" "21" "43176924" "43176924" "subst" "2.84324E-5" "01804" "RIPK4_000031" "g.43176924G>A" "" "" "" "RIPK4(NM_020639.3):c.235C>T (p.(Arg79Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059079" "0" "70" "21" "43187174" "43187174" "subst" "1.94824E-5" "00006" "RIPK4_000033" "g.43187174C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41767014C>A" "" "likely pathogenic" "" "0001059080" "0" "70" "21" "43165948" "43165948" "subst" "3.65539E-5" "00006" "RIPK4_000032" "g.43165948C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41745788C>T" "" "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 RIPK4 ## Count = 37 "{{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}}" "0000297670" "00017794" "10" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Ser53=)" "" "0000297671" "00017794" "10" "1996" "0" "1996" "0" "c.1996A>G" "r.(?)" "p.(Met666Val)" "" "0000297672" "00017794" "10" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ala12Gly)" "" "0000297673" "00017794" "10" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Ala210=)" "" "0000299325" "00017794" "90" "621" "0" "621" "0" "c.621C>G" "r.(?)" "p.(Tyr207Ter)" "" "0000307111" "00017794" "30" "1198" "0" "1198" "0" "c.1198C>G" "r.(?)" "p.(Leu400Val)" "" "0000307112" "00017794" "50" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Ala577Thr)" "" "0000307113" "00017794" "30" "2242" "0" "2242" "0" "c.2242G>A" "r.(?)" "p.(Ala748Thr)" "" "0000307114" "00017794" "30" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Ala775Thr)" "" "0000570669" "00017794" "10" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Ser628=)" "" "0000570670" "00017794" "30" "1198" "0" "1198" "0" "c.1198C>G" "r.(?)" "p.(Leu400Val)" "" "0000570672" "00017794" "30" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Val247Met)" "" "0000650855" "00017794" "50" "1884" "0" "1884" "0" "c.1884C>T" "r.(=)" "p.(=)" "" "0000650856" "00017794" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Glu284Lys)" "" "0000697989" "00017794" "90" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "0000698012" "00017794" "90" "362" "0" "362" "0" "c.362T>A" "r.(?)" "p.(Ile121Asn)" "" "0000698013" "00017794" "90" "362" "0" "362" "0" "c.362T>A" "r.(?)" "p.(Ile121Asn)" "" "0000698014" "00017794" "90" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Thr184Ile)" "" "0000698015" "00017794" "90" "777" "0" "777" "0" "c.777dup" "r.(?)" "p.(Arg260Thrfs*14)" "" "0000895478" "00017794" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Val36Ala)" "" "0000983983" "00017794" "30" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Ser367Ile)" "" "0000983984" "00017794" "30" "832" "2" "832" "2" "c.832+2T>C" "r.spl?" "p.?" "" "0001023928" "00017794" "90" "1127" "0" "1127" "0" "c.1127C>A" "r.(?)" "p.(Ser376*)" "" "0001023929" "00017794" "90" "242" "0" "242" "0" "c.242T>A" "r.(?)" "p.(Ile81Asn)" "" "0001023932" "00017794" "90" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Arg618His)" "" "0001023933" "00017794" "90" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Ala448Pro)" "" "0001023934" "00017794" "90" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Pro189Leu)" "" "0001023935" "00017794" "90" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Arg618His)" "" "0001023937" "00017794" "90" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Arg618His)" "" "0001023938" "00017794" "90" "1074" "0" "1074" "0" "c.1074dup" "r.(1074dup)" "p.(Glu359Ter)" "" "0001023939" "00017794" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Glu284Lys)" "" "0001023940" "00017794" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Glu284Lys)" "" "0001043591" "00017794" "30" "182" "10" "182" "10" "c.182+10C>T" "r.(=)" "p.(=)" "" "0001057013" "00017794" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ala165Val)" "" "0001057014" "00017794" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0001059079" "00017794" "70" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Ala10Ser)" "" "0001059080" "00017794" "70" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000294166" "0000650855" "0000294167" "0000650856" "0000315884" "0000697989" "0000315907" "0000698012" "0000315908" "0000698013" "0000315909" "0000698014" "0000315910" "0000698015" "0000463871" "0001023928" "0000463872" "0001023929" "0000463875" "0001023932" "0000463875" "0001023937" "0000463876" "0001023933" "0000463877" "0001023934" "0000463878" "0001023935" "0000463880" "0001023938" "0000463881" "0001023939" "0000463882" "0001023940" "0000470957" "0001059079" "0000470958" "0001059080"