### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NLRP2) # 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}}" "NLRP2" "NLR family, pyrin domain containing 2" "19" "q13.42" "unknown" "NC_000019.9" "UD_132378834934" "" "https://www.LOVD.nl/NLRP2" "" "1" "22948" "55655" "609364" "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/NLRP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2024-11-08 11:38:58" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000691" "NLRP2" "transcript variant 1" "002" "NM_017852.3" "" "NP_060322.1" "" "" "" "-142" "3433" "3189" "55477711" "55512510" "00000" "2012-09-13 12:47:04" "" "" ## 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}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "07112" "OZEMA18" "oocyte/zygote/embryo maturation arrest, type 18" "AR" "620332" "" "" "" "00006" "2024-11-08 11:40:02" "" "" "07114" "MLID" "multilocus imprinting disturbances" "" "" "" "" "" "00006" "2024-11-11 09:01:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NLRP2" "07112" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00452998" "" "" "" "1" "" "00764" "{PMID:Yalcin 2025:39905760}" "" "F" "no" "Egypt" "" "0" "" "" "" "patient" "00457387" "" "" "" "1" "" "00006" "{PMID:Mu 2019:30877238}" "3-generation family, 1 affected, unaffected parents" "F" "yes" "China" "" "0" "" "" "" "FamPat1" "00457388" "" "" "" "1" "" "00006" "{PMID:Mu 2019:30877238}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "FamPat2" "00457389" "" "" "" "1" "" "00006" "{PMID:Mu 2019:30877238}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "FamPat3" "00457390" "" "" "" "1" "" "00006" "{PMID:Mu 2019:30877238}" "3-generation family, 1 affected, unaffected parents" "F" "" "China" "" "0" "" "" "" "FamPat4" "00457391" "" "" "" "1" "" "00006" "{PMID:Mu 2019:30877238}" "3-generation family, 1 affected, unaffected parents" "F" "" "China" "" "0" "" "" "" "FamPat5" "00457408" "" "" "" "3" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of 2 affected children (F, M) and 3 pregnancy losses" "F" "" "Saudi Arabia" "" "0" "" "" "" "Fam1" "00457409" "" "" "00457408" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "son" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat1" "00457410" "" "" "00457408" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "daughter" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat2" "00457411" "" "" "" "2" "" "00006" "{PMID:Begemann 2011: 20738330}, {PMID:Begemann 2018:29574422}" "mother of affected child, in vitro fertilisation (triplet, not monozygotic)" "F" "" "Germany" "" "0" "" "" "" "Fam2" "00457412" "" "" "00457411" "1" "" "00006" "{PMID:Begemann 2011:20738330}, {PMID:Begemann 2018:29574422}" "son" "M" "" "Germany" "" "0" "" "" "" "Pat20;Fam2Pat3" "00457413" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam3" "00457414" "" "" "00457413" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "son" "M" "" "" "" "0" "" "" "" "Fam3Pat" "00457415" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam4" "00457416" "" "" "00457415" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "son" "M" "" "" "" "0" "" "" "" "Fam4Pat" "00457417" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam5" "00457418" "" "" "00457417" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "son" "M" "" "" "" "0" "" "" "" "Fam5Pat" "00458503" "" "" "" "1" "" "04780" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00452998" "05370" "00457387" "05370" "00457388" "05370" "00457389" "05370" "00457390" "05370" "00457391" "05370" "00457408" "07114" "00457409" "07114" "00457410" "07114" "00457411" "07114" "00457412" "07114" "00457413" "07114" "00457414" "07114" "00457415" "07114" "00457416" "07114" "00457417" "07114" "00457418" "07114" "00458503" "07112" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 05370, 07112, 07114 ## Count = 20 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000345851" "05370" "00457387" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "OZEMA18" "primary infertility" "0000345852" "05370" "00457388" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "OZEMA18" "primary infertility" "0000345853" "05370" "00457389" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "OZEMA18" "primary infertility" "0000345854" "05370" "00457390" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "OZEMA18" "primary infertility" "0000345855" "05370" "00457391" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "OZEMA18" "primary infertility" "0000345872" "07114" "00457408" "00006" "Unknown" "" "see paper; ... no heath issues; two children affected by MLID, one early abortion (gw 8), two late miscarriages (gw 24 and gw 36), one healthy child" "" "" "" "" "" "" "" "" "healthy" "0000345873" "07114" "00457409" "00006" "Unknown" "" "see paper; ..., omphalocele, macroglossia, neonatal hypoglycaemia, heart defect, developmental delay" "" "" "" "" "" "" "" "" "Beckwith-Wiedemann syndrome (multilocus imprinting disturbances)" "0000345874" "07114" "00457410" "00006" "Unknown" "" "see paper; ..., macroglossia, dysmorphisms, prominent eyes, developmental delay" "" "" "" "" "" "" "" "" "Beckwith-Wiedemann syndrome (multilocus imprinting disturbances)" "0000345875" "07114" "00457411" "00006" "Unknown" "" "no health issues, affected from a trizygous triplet resulting from intracytoplasmic sperm injection" "" "" "" "" "" "" "" "" "healthy" "0000345876" "07114" "00457412" "00006" "Unknown" "" "see paper; ..., Silver-Russell syndrome (NH-CSS: 6/6)" "" "" "" "" "" "" "" "" "Silver-Russell syndrome (multilocus imprinting disturbances)" "0000345877" "07114" "00457413" "00006" "Unknown" "" "no health issues; sister experienced three pregnancy losses, no liveborn children" "" "" "" "" "" "" "" "" "healthy" "0000345878" "07114" "00457414" "00006" "Unknown" "" "amniocentesis (high maternal age) Klinefelter-Syndrome; brith 27w-465 g, OFC 32 cm; postnatal growth restriction, respiratory support 2m, gastric tube feeding first year; microcephaly, precocious puberty, dysmorphism; developmental delay moderate to severe mental retardation, severe speech delay, relatively short stature" "" "" "" "" "" "" "" "Klinefelter syndrome" "aspecifc (multilocus imprinting disturbances)" "0000345879" "07114" "00457415" "00006" "Unknown" "" "1 affected/2 unaffected child, at least two miscarriages" "" "" "" "" "" "" "" "" "healthy" "0000345880" "07114" "00457416" "00006" "Unknown" "" "see paper; ..., 26w-polyhydramnios; birth 41w weight 2955g (9th centile), OFC 35.5cm; 3m-remission, childhood height and weight >99th centile, autistic spectrum disorder, speech delay, language delay; younger brother anxiety preventing school attendance (autistic spectrum disorder)" "" "" "" "" "" "" "" "" "multilocus imprinting disturbances" "0000345881" "07114" "00457417" "00006" "Unknown" "" "one subsequent healthy child, one miscarriage" "" "" "" "" "" "" "" "" "healthy" "0000345882" "07114" "00457418" "00006" "Unknown" "" "see paper; ..., intra-uterine growth retardation; birth weight 1.76kg, OFC 35.5cm, length 43.5cm; Silver Russell syndrome (NH-CSS 4/6); bilateral radial anomalies, abnormalities of thumbs, single kidney" "" "" "" "" "" "" "" "" "multilocus imprinting disturbances" "0000346941" "07112" "00458503" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000350754" "05370" "00452998" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary infertility, 4 early miscarriages, 1 failed attempt of intracytoplasmic sperm injection" "" "" "" "" "" "" "" "OZEMA18" "female infertility" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000454608" "00452998" "1" "00764" "00764" "2024-08-12 02:31:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000459008" "00457387" "1" "00006" "00006" "2024-11-10 21:23:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459009" "00457388" "1" "00006" "00006" "2024-11-10 21:23:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459010" "00457389" "1" "00006" "00006" "2024-11-10 21:23:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459011" "00457390" "1" "00006" "00006" "2024-11-10 21:23:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459012" "00457391" "1" "00006" "00006" "2024-11-10 21:23:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459029" "00457408" "1" "00006" "00006" "2024-11-11 13:32:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459030" "00457409" "1" "00006" "00006" "2024-11-11 13:38:40" "" "" "SEQ" "DNA" "" "" "0000459031" "00457410" "1" "00006" "00006" "2024-11-11 13:43:47" "" "" "SEQ" "DNA" "" "" "0000459032" "00457411" "1" "00006" "00006" "2024-11-11 13:53:35" "" "" "SEQ" "DNA" "" "wes" "0000459033" "00457412" "1" "00006" "00006" "2024-11-11 13:58:06" "" "" "SEQ" "DNA" "" "" "0000459034" "00457413" "1" "00006" "00006" "2024-11-11 14:04:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459035" "00457414" "1" "00006" "00006" "2024-11-11 14:11:29" "" "" "SEQ" "DNA" "" "" "0000459036" "00457415" "1" "00006" "00006" "2024-11-11 14:17:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459037" "00457416" "1" "00006" "00006" "2024-11-11 14:22:21" "" "" "SEQ" "DNA" "" "" "0000459038" "00457417" "1" "00006" "00006" "2024-11-11 14:28:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459039" "00457418" "1" "00006" "00006" "2024-11-11 14:36:14" "" "" "SEQ" "DNA" "" "" "0000460125" "00458503" "1" "04780" "04780" "2024-12-15 10:43:36" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000454608" "NLRP2" "0000460125" "NLRP2" ## 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 = 36 "{{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}}" "0000005916" "0" "50" "19" "55485160" "55485160" "subst" "0" "00037" "NLRP2_000002" "g.55485160C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54973792C>A" "" "VUS" "" "0000005917" "0" "50" "19" "55485173" "55485173" "subst" "0" "00037" "NLRP2_000003" "g.55485173G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54973805G>A" "" "VUS" "" "0000005918" "0" "50" "19" "55485786" "55485786" "subst" "0" "00037" "NLRP2_000005" "g.55485786G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54974418G>A" "" "VUS" "" "0000013865" "0" "50" "19" "55485173" "55485173" "subst" "0" "00037" "NLRP2_000003" "g.55485173G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54973805G>A" "" "VUS" "" "0000013866" "0" "50" "19" "55485899" "55485899" "subst" "0.180628" "00037" "NLRP2_000001" "g.55485899G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54974531G>A" "" "VUS" "" "0000300091" "0" "10" "19" "55501424" "55501424" "subst" "0.00925061" "02326" "NLRP2_000006" "g.55501424G>A" "" "" "" "NLRP2(NM_017852.5):c.2401G>A (p.A801T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54990056G>A" "" "benign" "" "0000326803" "0" "50" "19" "55508689" "55508689" "subst" "0" "01804" "NLRP2_000007" "g.55508689T>C" "" "" "" "NLRP2(NM_001174081.1):c.2884T>C (p.(Trp962Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54997321T>C" "" "VUS" "" "0000866268" "0" "30" "19" "55494126" "55494126" "subst" "0.00504344" "01804" "NLRP2_000013" "g.55494126A>G" "" "" "" "NLRP2(NM_001174081.1):c.1060A>G (p.(Ile354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989484" "10" "70" "19" "55494458" "55494458" "del" "4.10334E-6" "00764" "NLRP2_000014" "g.55494458del" "" "{PMID:Yalcin 2025:39905760}" "" "NM_001174082.3:c.1326delG" "" "Germline" "" "" "0" "" "" "g.54983090del" "" "likely pathogenic" "" "0000989485" "21" "70" "19" "55501982" "55501982" "subst" "4.06062E-6" "00764" "NLRP2_000015" "g.55501982G>C" "" "{PMID:Yalcin 2025:39905760}" "" "NM_001174082.3:c.2584G>C" "" "Germline" "" "" "0" "" "" "g.54990614G>C" "" "VUS" "" "0001016469" "21" "90" "19" "55505798" "55505799" "del" "0" "00764" "NLRP2_000016" "g.55505798_55505799del" "" "{PMID:Yalcin 2025:39905760}" "" "NM_001174082.3:c.2802_2803del, p.Arg935Metfs*15" "" "Germline" "" "" "0" "" "" "g.54994430_54994431del" "" "VUS" "" "0001016706" "3" "90" "19" "55495027" "55495027" "subst" "0" "00006" "NLRP2_000022" "g.55495027C>A" "" "{PMID:Mu 2019:30877238}" "" "" "" "Germline" "" "" "0" "" "" "g.54983659C>A" "" "pathogenic (recessive)" "" "0001016707" "11" "90" "19" "55493839" "55493839" "subst" "4.06068E-6" "00006" "NLRP2_000019" "g.55493839T>C" "" "{PMID:Mu 2019:30877238}" "" "" "" "Germline" "" "" "0" "" "" "g.54982471T>C" "" "pathogenic (recessive)" "" "0001016708" "21" "90" "19" "55493591" "55493591" "subst" "0" "00006" "NLRP2_000017" "g.55493591G>C" "" "{PMID:Mu 2019:30877238}" "" "" "" "Germline" "" "" "0" "" "" "g.54982223G>C" "" "pathogenic (recessive)" "" "0001016709" "1" "90" "19" "55493728" "55493728" "subst" "0.0893887" "00006" "NLRP2_000018" "g.55493728C>T" "" "{PMID:Mu 2019:30877238}" "" "" "" "Germline" "" "" "0" "" "" "g.54982360C>T" "" "pathogenic (recessive)" "" "0001016710" "1" "90" "19" "55493728" "55493728" "subst" "0.0893887" "00006" "NLRP2_000018" "g.55493728C>T" "" "{PMID:Mu 2019:30877238}" "" "" "" "Germline" "" "" "0" "" "" "g.54982360C>T" "" "pathogenic (recessive)" "" "0001016714" "21" "90" "19" "55497571" "55497571" "subst" "4.06075E-6" "00006" "NLRP2_000023" "g.55497571C>T" "" "{PMID:Mu 2019:30877238}" "" "" "" "Germline" "" "" "0" "" "" "g.54986203C>T" "" "pathogenic (recessive)" "" "0001016715" "11" "90" "19" "55501876" "55501876" "subst" "0" "00006" "NLRP2_000024" "g.55501876A>T" "" "{PMID:Mu 2019:30877238}" "" "" "" "Germline" "" "" "0" "" "" "g.54990508A>T" "" "pathogenic (recessive)" "" "0001016716" "2" "90" "19" "55494913" "55494913" "subst" "8.12229E-6" "00006" "NLRP2_000021" "g.55494913A>T" "" "{PMID:Mu 2019:30877238}" "" "" "" "Germline" "" "" "0" "" "" "g.54983545A>T" "" "pathogenic (recessive)" "" "0001016717" "2" "90" "19" "55494534" "55494534" "subst" "0.000130149" "00006" "NLRP2_000020" "g.55494534C>T" "" "{PMID:Mu 2019:30877238}" "" "1469C>T" "" "Germline" "" "" "0" "" "" "g.54983166C>T" "" "pathogenic (recessive)" "" "0001016738" "3" "90" "19" "55494545" "55494546" "del" "0" "00006" "NLRP2_000025" "g.55494545_55494546del" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "" "0" "normal epigenotype" "" "g.54983177_54983178del" "" "pathogenic (!)" "" "0001016739" "21" "90" "19" "55494545" "55494546" "del" "0" "00006" "NLRP2_000025" "g.55494545_55494546del" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "yes" "" "0" "multilocus imprinting disturbances; PLAGL1, GRB10, MEST, KCNQ1OT1, GNAS hypomethylated" "" "g.54983177_54983178del" "" "pathogenic (!)" "" "0001016740" "21" "90" "19" "55494545" "55494546" "del" "0" "00006" "NLRP2_000025" "g.55494545_55494546del" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "" "0" "multilocus imprinting disturbances; PLAGL1, GRB10, MEST, KCNQ1OT1, GNAS hypomethylated" "" "g.54983177_54983178del" "" "pathogenic (!)" "" "0001016741" "0" "90" "19" "55497554" "55497554" "del" "0" "00006" "NLRP2_000026" "g.55497554del" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "" "0" "normal epigenotype" "" "g.54986186del" "" "pathogenic (!)" "" "0001016742" "21" "90" "19" "55497554" "55497554" "del" "0" "00006" "NLRP2_000026" "g.55497554del" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "" "0" "" "" "g.54986186del" "" "pathogenic (!)" "" "0001016743" "0" "90" "19" "55505788" "55505789" "del" "0" "00006" "NLRP2_000027" "g.55505788_55505789del" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "" "0" "normal epigenotype" "" "g.54994420_54994421del" "" "pathogenic (!)" "" "0001016744" "21" "10" "19" "0" "0" "" "" "00006" "NLRP2_000000" "g.=" "" "{PMID:Begemann 2018:29574422}" "" "" "mother carries variant affecting embryonic imprinting (variant not inherited)" "Germline" "" "" "0" "multilocus imprinting disturbances; hypomethylation GRB10, MEST, H19, KCNQ1OT1, MEG3,GNAS-AS, GNAS" "" "g.=" "" "benign (!)" "" "0001016745" "0" "90" "19" "55485901" "55485901" "subst" "2.84361E-5" "00006" "NLRP2_000028" "g.55485901C>T" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "" "0" "normal epigenotype" "" "g.54974533C>T" "" "pathogenic (!)" "" "0001016746" "21" "10" "19" "0" "0" "" "" "00006" "NLRP2_000000" "g.=" "" "" "" "" "mother carries variant affecting embryonic imprinting (variant not inherited)" "Germline" "" "" "0" "multilocus imprinting disturbances; hypomethylation PLAGL1, MEST, DIRAS3, IGF1R, IGF2R" "" "g.=" "" "benign (!)" "" "0001016747" "0" "90" "19" "55494951" "55494951" "subst" "0.000971205" "00006" "NLRP2_000029" "g.55494951T>C" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "" "0" "normal epigenotype" "" "g.54983583T>C" "" "pathogenic (!)" "" "0001016748" "0" "50" "19" "55501424" "55501424" "subst" "0.00925061" "00006" "NLRP2_000006" "g.55501424G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variants in NLRP2 affect embryonic imprinting" "Germline/De novo (untested)" "" "" "0" "normal epigenotype" "" "g.54990056G>A" "" "VUS (!)" "" "0001016749" "21" "50" "19" "55501424" "55501424" "subst" "0.00925061" "00006" "NLRP2_000006" "g.55501424G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant may affect embryonic imprinting" "Germline" "" "" "0" "multilocus imprinting disturbances; hypomethylation H19, IGF2R" "" "g.54990056G>A" "" "VUS (!)" "" "0001016750" "21" "90" "19" "55494951" "55494951" "subst" "0.000971205" "00006" "NLRP2_000029" "g.55494951T>C" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "" "0" "multilocus imprinting disturbances; hypomethylation H19, IGF2R" "" "g.54983583T>C" "" "pathogenic (!)" "" "0001019087" "3" "70" "19" "55494831" "55494831" "subst" "1.21819E-5" "04780" "NLRP2_000030" "g.55494831G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.54983463G>A" "" "VUS" "ACMG" "0001043175" "0" "50" "19" "55493599" "55493599" "subst" "1.21897E-5" "01804" "NLRP2_000031" "g.55493599A>G" "" "" "" "NLRP2(NM_017852.5):c.533A>G (p.(Asp178Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043176" "0" "50" "19" "55494459" "55494459" "subst" "0" "01804" "NLRP2_000032" "g.55494459C>T" "" "" "" "NLRP2(NM_017852.5):c.1393C>T (p.(Leu465Phe))" "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 NLRP2 ## Count = 36 "{{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}}" "0000005916" "00000691" "50" "281" "-708" "281" "-708" "c.281-708C>A" "r.(=)" "p.(=)" "" "0000005917" "00000691" "50" "281" "-695" "281" "-695" "c.281-695G>A" "r.(=)" "p.(=)" "" "0000005918" "00000691" "50" "281" "-82" "281" "-82" "c.281-82G>A" "r.(=)" "p.(=)" "" "0000013865" "00000691" "50" "281" "-695" "281" "-695" "c.281-695G>A" "r.(=)" "p.(=)" "" "0000013866" "00000691" "50" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(=)" "" "0000300091" "00000691" "10" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "" "0000326803" "00000691" "50" "2884" "0" "2884" "0" "c.2884T>C" "r.(?)" "p.(Trp962Arg)" "" "0000866268" "00000691" "30" "1060" "0" "1060" "0" "c.1060A>G" "r.(?)" "p.(Ile354Val)" "" "0000989484" "00000691" "70" "1392" "0" "1392" "0" "c.1392del" "r.(?)" "p.(Leu465Phefs*78)" "" "0000989485" "00000691" "70" "2650" "0" "2650" "0" "c.2650G>C" "r.(?)" "p.(Gly884Arg)" "" "0001016469" "00000691" "90" "2868" "0" "2869" "0" "c.2868_2869del" "r.(?)" "p.(Arg957Metfs*15)" "" "0001016706" "00000691" "90" "1961" "0" "1961" "0" "c.1961C>A" "r.(?)" "p.(Ser654Ter)" "" "0001016707" "00000691" "90" "773" "0" "773" "0" "c.773T>C" "r.(?)" "p.(Phe258Ser)" "" "0001016708" "00000691" "90" "525" "0" "525" "0" "c.525G>C" "r.(?)" "p.(Trp175Cys)" "" "0001016709" "00000691" "90" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Thr221Met)" "" "0001016710" "00000691" "90" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Thr221Met)" "" "0001016714" "00000691" "90" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(Arg752Ter)" "" "0001016715" "00000691" "90" "2544" "0" "2544" "0" "c.2544A>T" "r.(?)" "p.(Glu848Asp)" "" "0001016716" "00000691" "90" "1847" "0" "1847" "0" "c.1847A>T" "r.(?)" "p.(Glu616Val)" "" "0001016717" "00000691" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Cys)" "" "0001016738" "00000691" "90" "1479" "0" "1480" "0" "c.1479_1480del" "r.(?)" "p.(Arg493Serfs*32)" "" "0001016739" "00000691" "90" "1479" "0" "1480" "0" "c.1479_1480del" "r.(?)" "p.(Arg493Serfs*32)" "" "0001016740" "00000691" "90" "1479" "0" "1480" "0" "c.1479_1480del" "r.(?)" "p.(Arg493Serfs*32)" "" "0001016741" "00000691" "90" "2237" "0" "2237" "0" "c.2237del" "r.(?)" "p.(Asn746Thrfs*4)" "" "0001016742" "00000691" "90" "2237" "0" "2237" "0" "c.2237del" "r.(?)" "p.(Asn746Thrfs*4)" "" "0001016743" "00000691" "90" "2860" "0" "2861" "0" "c.2860_2861del" "r.(?)" "p.(Cys954Glnfs*18)" "" "0001016744" "00000691" "10" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "" "0001016745" "00000691" "90" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Pro105Leu)" "" "0001016746" "00000691" "10" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "" "0001016747" "00000691" "90" "1885" "0" "1885" "0" "c.1885T>C" "r.(?)" "p.(Ser629Pro)" "" "0001016748" "00000691" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "" "0001016749" "00000691" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "" "0001016750" "00000691" "90" "1885" "0" "1885" "0" "c.1885T>C" "r.(?)" "p.(Ser629Pro)" "" "0001019087" "00000691" "70" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Asp589Asn)" "" "0001043175" "00000691" "50" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0001043176" "00000691" "50" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Leu465Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005916" "0000000209" "0000005917" "0000000209" "0000005918" "0000000210" "0000013865" "0000000210" "0000013866" "0000454608" "0000989484" "0000454608" "0000989485" "0000454608" "0001016469" "0000459008" "0001016706" "0000459009" "0001016707" "0000459009" "0001016714" "0000459010" "0001016708" "0000459010" "0001016715" "0000459011" "0001016709" "0000459011" "0001016716" "0000459012" "0001016710" "0000459012" "0001016717" "0000459029" "0001016738" "0000459030" "0001016739" "0000459031" "0001016740" "0000459032" "0001016741" "0000459033" "0001016742" "0000459034" "0001016743" "0000459035" "0001016744" "0000459036" "0001016745" "0000459037" "0001016746" "0000459038" "0001016747" "0000459038" "0001016748" "0000459039" "0001016749" "0000459039" "0001016750" "0000460125" "0001019087"