### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JAG2) # 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}}" "JAG2" "jagged 2" "14" "q32" "unknown" "NC_000014.8" "UD_136057943353" "" "https://www.LOVD.nl/JAG2" "" "1" "6189" "3714" "602570" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/JAG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-06 14:07:52" "00006" "2026-03-06 17:26:39" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010248" "JAG2" "transcript variant 1" "002" "NM_002226.4" "" "NP_002217.3" "" "" "" "-404" "5431" "3717" "105635161" "105607318" "" "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}}" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05586" "OFC" "cleft, orofacial (OFC)" "" "" "" "" "" "00006" "2019-03-29 16:06:15" "" "" "07061" "LGMDR27" "dystrophy, muscular, limb-girdle, autosomal recessive, type 27" "AR" "619566" "" "" "" "00006" "2024-01-12 21:16:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "JAG2" "07061" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00239197" "" "" "" "1" "" "00006" "{PMID:Vieira 2005:16327884}" "" "" "" "(Philippines);(United States)" "" "0" "" "" "" "patient" "00372524" "" "" "" "2" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 2 affected sister" "F" "yes" "Morocco" "" "0" "" "" "" "BELPatII1" "00372525" "" "" "00372524" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "sister" "F" "yes" "Morocco" "" "0" "" "" "" "BELPatII2" "00372526" "" "" "" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 1 affected" "M" "no" "Iran" "" "0" "" "" "" "IRAPatII1" "00372527" "" "" "" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "US3PatII2" "00372528" "" "" "" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 1 affected" "F" "no" "Estonia" "" "0" "" "" "" "ESTPatII1" "00372529" "" "" "" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "US1PatII1" "00372530" "" "" "" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 1 affected" "M" "no" "France" "" "0" "" "" "" "FRAPatII1" "00372531" "" "" "" "2" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 2 affected sister" "F" "no" "United States" "" "0" "" "" "" "US2PatII1" "00372532" "" "" "00372531" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "sister" "F" "no" "United States" "" "0" "" "" "" "US2PatII3" "00372533" "" "" "" "3" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 3 affected (2F, M)" "F" "no" "Poland" "" "0" "" "" "" "POLPatII3" "00372534" "" "" "00372533" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "sister" "F" "no" "Poland" "" "0" "" "" "" "POLPatII4" "00372535" "" "" "00372533" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "brother" "M" "no" "Poland" "" "0" "" "" "" "POLPatII5" "00372536" "" "" "" "2" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 2 affected (F, M)" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "UKPatII1" "00372537" "" "" "00372536" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "brother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "UKPatII2" "00372538" "" "" "" "2" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 2 affected (F, M)" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "UK2PatII1" "00372539" "" "" "00372538" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "brother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "UK2PatII2" "00372540" "" "" "" "3" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 3 affected brothers" "M" "yes" "Sri Lanka" "" "0" "" "" "" "GERPatII1" "00372541" "" "" "00372540" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "brother" "M" "yes" "Sri Lanka" "" "0" "" "" "" "GERPatII2" "00372542" "" "" "00372540" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "brother" "M" "yes" "Sri Lanka" "" "0" "" "" "" "GERPatII4" "00372543" "" "" "" "2" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 2 affected (F, M)" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "UAEPatII4" "00372544" "" "" "" "3" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "2-generation family, 3 affected (F, 2M)" "F" "yes" "Egypt" "" "0" "" "" "" "EGYPatII1" "00372545" "" "" "00372544" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "EGYPatII2" "00372546" "" "" "00372544" "1" "" "00000" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "EGYPatII3" "00454929" "" "" "" "1" "" "03361" "" "" "" "" "France" "" "" "" "" "" "" "00473188" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam106892Pat358" "00473273" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam200906Pat496" "00473955" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9909518Pat1487" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00239197" "05586" "00372524" "05121" "00372525" "05121" "00372526" "05121" "00372527" "05121" "00372528" "05121" "00372529" "05121" "00372530" "05121" "00372531" "05121" "00372532" "05121" "00372533" "05121" "00372534" "05121" "00372535" "05121" "00372536" "05121" "00372537" "05121" "00372538" "05121" "00372539" "05121" "00372540" "05121" "00372541" "05121" "00372542" "05121" "00372543" "05121" "00372544" "05121" "00372545" "05121" "00372546" "05121" "00454929" "07061" "00473188" "00244" "00473273" "05126" "00473955" "05126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244, 05121, 05126, 05586, 07061 ## Count = 27 "{{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}}" "0000179414" "05586" "00239197" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "cleft lip" "0000267838" "05121" "00372524" "00000" "Familial, autosomal recessive" "13y" "onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 8y-loss of ambulation; contractures ankles/elbows; normal muscle trophism; facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.57; moderate intellectual disability; raised CK 1.3x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267839" "05121" "00372525" "00000" "Familial, autosomal recessive" "9y" "onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 8y-loss of ambulation; contractures ankles; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.58; no intellectual disability; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267840" "05121" "00372526" "00000" "Familial, autosomal recessive" "8y" "onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 5y-loss of ambulation; contractures ankles; normal muscle trophism; no facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; speech delay; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267841" "05121" "00372527" "00000" "Familial, autosomal recessive" "5y" "onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, stable; still ambulant; no contractures; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267842" "05121" "00372528" "00000" "Familial, autosomal recessive" "11y" "onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; contractures ankles/elbows; atrophy prox > distal; no facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC normal; speech delay; raised CK 1.5x; EMG myopathic; muscle biopsy dystrophic; mitral valve prolapse (non-significant)" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267843" "05121" "00372529" "00000" "Familial, autosomal recessive" "41y" "onset childhood; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; contractures ankles/elbows/knees/shoulders/fingers; atrophy generalized; facial weakness; ptosis; neck weakness; scoliosis; rigid spine; FVC 0.74; mild intellectual disability; raised CK 4x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267844" "05121" "00372530" "00000" "Familial, autosomal recessive" "22y" "onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 14y-loss of ambulation; contractures ankles/elbows/knees/shoulders/fingers/wrists; atrophy generalized; no facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; FVC 0.55; speech delay; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267845" "05121" "00372531" "00000" "Familial, autosomal recessive" "25y" "onset adolescence; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; contractures ankles; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 2x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267846" "05121" "00372532" "00000" "Familial, autosomal recessive" "22y" "onset adolescence; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; contractures ankles; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 2.5x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267847" "05121" "00372533" "00000" "Familial, autosomal recessive" "53y" "onset young adult; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; normal muscle trophism; no facial weakness; ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.66; no intellectual disability; normal CK; EMG myopathic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267848" "05121" "00372534" "00000" "Familial, autosomal recessive" "44y" "onset young adult; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.77; no intellectual disability; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267849" "05121" "00372535" "00000" "Familial, autosomal recessive" "40y" "onset young adult; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.84; no intellectual disability; raised CK 1.1x; myocarditis paroxysmal supraventricular tachycardia, atrioventricular block, 36y-pacemaker" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267850" "05121" "00372536" "00000" "Familial, autosomal recessive" "35y" "onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy lower limbs; no facial weakness; ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.75-0.80; no intellectual disability; normal CK; EMG normal; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267851" "05121" "00372537" "00000" "Familial, autosomal recessive" "45y" "onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy lower limbs; no facial weakness; ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.75-0.80; mild intellectual disability; normal CK; EMG normal; Wolff-Parkinson-White syndrome (ablation)" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267852" "05121" "00372538" "00000" "Familial, autosomal recessive" "21y" "onset early childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 8y-loss of ambulation; contractures ankles; atrophy generalized; no facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; autism spectrum disorder; normal CK; EMG myopathic; muscle biopsy dystrophic; cardiomyopathy" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267853" "05121" "00372539" "00000" "Familial, autosomal recessive" "21y" "onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 11y-loss of ambulation; contractures ankles; atrophy generalized; no facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; no intellectual disability; normal CK; cardiomyopathy" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267854" "05121" "00372540" "00000" "Familial, autosomal recessive" "38y" "onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 9y-loss of ambulation; contractures ankles/elbows/hips/knees/shoulders; atrophy PUL/DLL/neck; facial weakness; no ptosis; neck weakness; scoliosis; rigid spine, rigid neck; FVC 0.41; no intellectual disability; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267855" "05121" "00372541" "00000" "Familial, autosomal recessive" "36y" "onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; atrophy PUL/DLL/neck; facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; FVC 0.42; no intellectual disability; raised CK 1.4x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267856" "05121" "00372542" "00000" "Familial, autosomal recessive" "31y" "onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; 18y-loss of ambulation; contractures ankles/elbows/hips/knees; atrophy PUL/DLL/neck; no facial weakness; no ptosis; neck weakness; no scoliosis; rigid spine; FVC 0.44; no intellectual disability; raised CK 1.1x; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267857" "05121" "00372543" "00000" "Familial, autosomal recessive" "31y" "onset young adult; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; normal muscle trophism; no facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.75-0.80; no intellectual disability; normal CK; EMG normal; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267858" "05121" "00372544" "00000" "Familial, autosomal recessive" "27y" "onset adolescence; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; contractures ankles; hypertrophy calf; no facial weakness; no ptosis; no neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; normal CK; EMG myopathic; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267859" "05121" "00372545" "00000" "Familial, autosomal recessive" "26y" "proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; no neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 3.4x; EMG myopathic; muscle biopsy increased fiber size variability; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000267860" "05121" "00372546" "00000" "Familial, autosomal recessive" "18y" "proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; no neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 3.8x; EMG myopathic; muscle biopsy increased fiber size variability; no cardiac disease" "" "" "" "" "" "" "" "" "muscular dystrophy" "0000357983" "00244" "00473188" "00006" "Unknown" "43y" "onset 29y, Lower muscle cramps & wasting; Difficulty rising from seated position; Muscle pain; Lower limbs weakness; Waddling gait; Lordosis; Gowers sign; Hx. of seizures; Muscle MRI: fatty changes/replacement suggestive of dystrophic myopathy." "" "" "" "" "" "" "" "" "congenital myopathy" "0000358068" "05126" "00473273" "00006" "Unknown" "30y" "parents multiple patients, onset 19y , proximal lower muscle weakness, walking difficulty, lordosis , axial muscle weakness, myopathic pattern in EMG, myopathic atrophy with fibrosis and fatty replacement reported in muscle biopsy, sarcolemmal labelling for six examined antibodies reported in IHC, and normal CPK" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "0000358750" "05126" "00473955" "00006" "Unknown" "29y" "onset 8y, Muscle weakness, legs>arms, proximal>distal; Muscle wasting of legs; Mild facial weakness; Difficulty raising arms, walking, running & climbing steps; Loss of ambulation from 9y ago; Lordosis; Respiratory problem; EMG-NCV: myopathic process; Muscle biopsy: muscular dystrophy; Abnormal IHC findings for dystrophins, dysferlin and gamma sarcoglycan." "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000240300" "00239197" "1" "00006" "00006" "2019-06-06 15:57:52" "" "" "SEQ" "DNA" "" "candidate gene panel" "0000373757" "00372524" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373758" "00372525" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373759" "00372526" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373760" "00372527" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373761" "00372528" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373762" "00372529" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373763" "00372530" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373764" "00372531" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373765" "00372532" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373766" "00372533" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373767" "00372534" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373768" "00372535" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373769" "00372536" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373770" "00372537" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373771" "00372538" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373772" "00372539" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373773" "00372540" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373774" "00372541" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373775" "00372542" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373776" "00372543" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373777" "00372544" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373778" "00372545" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000373779" "00372546" "1" "00000" "00006" "2021-05-09 13:06:47" "" "" "SEQ-NG" "DNA" "" "WES" "0000456542" "00454929" "1" "03361" "03361" "2024-09-30 14:38:25" "" "" "SEQ-NG" "DNA" "" "" "0000474857" "00473188" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474942" "00473273" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475624" "00473955" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000240300" "JAG2" "0000373757" "JAG2" "0000373758" "JAG2" "0000373759" "JAG2" "0000373760" "JAG2" "0000373761" "JAG2" "0000373762" "JAG2" "0000373763" "JAG2" "0000373764" "JAG2" "0000373765" "JAG2" "0000373766" "JAG2" "0000373767" "JAG2" "0000373768" "JAG2" "0000373769" "JAG2" "0000373770" "JAG2" "0000373771" "JAG2" "0000373772" "JAG2" "0000373773" "JAG2" "0000373774" "JAG2" "0000373775" "JAG2" "0000373776" "JAG2" "0000373777" "JAG2" "0000373778" "JAG2" "0000373779" "JAG2" ## 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 = 60 "{{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}}" "0000289912" "0" "50" "14" "105614533" "105614533" "subst" "0" "01943" "JAG2_000002" "g.105614533T>C" "" "" "" "JAG2(NM_002226.5):c.2168A>G (p.N723S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105148196T>C" "" "VUS" "" "0000289913" "0" "30" "14" "105609273" "105609273" "subst" "0.000399312" "01943" "JAG2_000001" "g.105609273C>T" "" "" "" "JAG2(NM_002226.5):c.3476G>A (p.R1159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.105142936C>T" "" "likely benign" "" "0000484338" "0" "70" "14" "105615389" "105615389" "subst" "0.000236222" "00006" "JAG2_000003" "g.105615389C>T" "" "{PMID:Vieira 2005:16327884}" "" "M597I" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.105149052C>T" "" "VUS" "" "0000784003" "3" "90" "14" "105621959" "105621959" "subst" "0" "00000" "JAG2_000014" "g.105621959G>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105155622G>T" "" "pathogenic (recessive)" "" "0000784004" "3" "90" "14" "105621959" "105621959" "subst" "0" "00000" "JAG2_000014" "g.105621959G>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105155622G>T" "" "pathogenic (recessive)" "" "0000784005" "3" "90" "14" "105622312" "105622312" "subst" "0" "00000" "JAG2_000016" "g.105622312C>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105155975C>T" "" "pathogenic (recessive)" "" "0000784006" "1" "90" "14" "105622309" "105622309" "subst" "0" "00000" "JAG2_000015" "g.105622309G>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105155972G>A" "" "pathogenic (recessive)" "" "0000784007" "1" "90" "14" "105634228" "105634228" "subst" "0" "00000" "JAG2_000017" "g.105634228T>C" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105167891T>C" "" "pathogenic (recessive)" "" "0000784008" "1" "90" "14" "105613026" "105613026" "subst" "2.45515E-5" "00000" "JAG2_000007" "g.105613026C>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105146689C>T" "" "pathogenic (recessive)" "" "0000784009" "3" "90" "14" "105612090" "105612090" "subst" "0" "00000" "JAG2_000006" "g.105612090A>G" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105145753A>G" "" "pathogenic (recessive)" "" "0000784010" "1" "90" "14" "105634290" "105634290" "subst" "0" "00000" "JAG2_000018" "g.105634290C>G" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105167953C>G" "" "pathogenic (recessive)" "" "0000784011" "1" "90" "14" "105634290" "105634290" "subst" "0" "00000" "JAG2_000018" "g.105634290C>G" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105167953C>G" "" "pathogenic (recessive)" "" "0000784012" "3" "90" "14" "105613026" "105613026" "subst" "2.45515E-5" "00000" "JAG2_000007" "g.105613026C>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105146689C>T" "" "pathogenic (recessive)" "" "0000784013" "3" "90" "14" "105613026" "105613026" "subst" "2.45515E-5" "00000" "JAG2_000007" "g.105613026C>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105146689C>T" "" "pathogenic (recessive)" "" "0000784014" "3" "90" "14" "105613026" "105613026" "subst" "2.45515E-5" "00000" "JAG2_000007" "g.105613026C>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105146689C>T" "" "pathogenic (recessive)" "" "0000784015" "3" "70" "14" "105614753" "105614753" "subst" "0.000247872" "00000" "JAG2_000011" "g.105614753G>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105148416G>A" "" "likely pathogenic (recessive)" "" "0000784016" "3" "70" "14" "105614753" "105614753" "subst" "0.000247872" "00000" "JAG2_000011" "g.105614753G>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105148416G>A" "" "likely pathogenic (recessive)" "" "0000784017" "1" "90" "14" "105609913" "105609917" "dup" "0" "00000" "JAG2_000005" "g.105609913_105609917dup" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105143576_105143580dup" "" "pathogenic (recessive)" "" "0000784018" "1" "90" "14" "105609913" "105609917" "dup" "0" "00000" "JAG2_000005" "g.105609913_105609917dup" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105143576_105143580dup" "" "pathogenic (recessive)" "" "0000784019" "3" "90" "14" "105614663" "105614663" "subst" "0" "00000" "JAG2_000009" "g.105614663G>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105148326G>A" "" "pathogenic (recessive)" "" "0000784020" "3" "90" "14" "105614663" "105614663" "subst" "0" "00000" "JAG2_000009" "g.105614663G>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105148326G>A" "" "pathogenic (recessive)" "" "0000784021" "3" "90" "14" "105614663" "105614663" "subst" "0" "00000" "JAG2_000009" "g.105614663G>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105148326G>A" "" "pathogenic (recessive)" "" "0000784022" "3" "70" "14" "105614753" "105614753" "subst" "0.000247872" "00000" "JAG2_000011" "g.105614753G>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105148416G>A" "" "likely pathogenic (recessive)" "" "0000784023" "3" "90" "14" "105618043" "105618043" "subst" "0" "00000" "JAG2_000013" "g.105618043T>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105151706T>A" "" "pathogenic (recessive)" "" "0000784024" "3" "90" "14" "105618043" "105618043" "subst" "0" "00000" "JAG2_000013" "g.105618043T>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105151706T>A" "" "pathogenic (recessive)" "" "0000784025" "3" "90" "14" "105618043" "105618043" "subst" "0" "00000" "JAG2_000013" "g.105618043T>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105151706T>A" "" "pathogenic (recessive)" "" "0000784026" "2" "90" "14" "105617642" "105617643" "del" "0" "00000" "JAG2_000012" "g.105617642_105617643del" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105151305_105151306del" "" "pathogenic (recessive)" "" "0000784027" "2" "90" "14" "105613669" "105613669" "subst" "0" "00000" "JAG2_000008" "g.105613669G>A" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105147332G>A" "" "pathogenic (recessive)" "" "0000784028" "21" "90" "14" "104000000" "107260000" "del" "0" "00006" "JAG2_000004" "g.(?_104000000)_(107260000_?)del" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "14q32.33del" "3.2 Mb terminal deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000784029" "2" "90" "14" "105613026" "105613026" "subst" "2.45515E-5" "00000" "JAG2_000007" "g.105613026C>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105146689C>T" "" "pathogenic (recessive)" "" "0000784030" "2" "90" "14" "105613026" "105613026" "subst" "2.45515E-5" "00000" "JAG2_000007" "g.105613026C>T" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105146689C>T" "" "pathogenic (recessive)" "" "0000784031" "2" "90" "14" "105614695" "105614697" "del" "0" "00000" "JAG2_000010" "g.105614695_105614697del" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105148358_105148360del" "" "pathogenic (recessive)" "" "0000784032" "2" "90" "14" "105614695" "105614697" "del" "0" "00000" "JAG2_000010" "g.105614695_105614697del" "" "{PMID:Coppens 2021:33861953}, {DOI:Coppens 2021:10.1016/j.ajhg.2021.03.020}" "" "" "" "Germline" "" "" "0" "" "" "g.105148358_105148360del" "" "pathogenic (recessive)" "" "0000863480" "0" "50" "14" "105609208" "105609208" "subst" "5.63644E-5" "01943" "JAG2_000019" "g.105609208C>T" "" "" "" "JAG2(NM_002226.5):c.3541G>A (p.E1181K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863481" "0" "30" "14" "105611327" "105611327" "subst" "4.23313E-5" "01943" "JAG2_000020" "g.105611327G>A" "" "" "" "JAG2(NM_002226.5):c.3024C>T (p.R1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950207" "0" "30" "14" "105614701" "105614701" "subst" "6.1848E-5" "01804" "JAG2_000021" "g.105614701G>A" "" "" "" "JAG2(NM_002226.4):c.2096C>T (p.(Ala699Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980790" "0" "30" "14" "105609400" "105609400" "subst" "0.00658966" "01804" "JAG2_000022" "g.105609400G>A" "" "" "" "JAG2(NM_002226.5):c.3349C>T (p.(Arg1117Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980791" "0" "30" "14" "105609984" "105609984" "subst" "4.24686E-5" "01804" "JAG2_000023" "g.105609984A>G" "" "" "" "JAG2(NM_002226.5):c.3085-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980792" "0" "50" "14" "105613683" "105613683" "subst" "0.00108598" "01804" "JAG2_000024" "g.105613683G>A" "" "" "" "JAG2(NM_002226.5):c.2459C>T (p.(Ala820Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980793" "0" "50" "14" "105617440" "105617440" "subst" "8.48673E-6" "01804" "JAG2_000025" "g.105617440G>T" "" "" "" "JAG2(NM_002226.5):c.1269C>A (p.(Asp423Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980794" "0" "30" "14" "105617450" "105617450" "subst" "0" "01804" "JAG2_000026" "g.105617450G>C" "" "" "" "JAG2(NM_002226.5):c.1268-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000760" "0" "50" "14" "105612984" "105612984" "subst" "0" "01804" "JAG2_000027" "g.105612984A>C" "" "" "" "JAG2(NM_002226.4):c.2557T>G (p.(Cys853Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000761" "0" "50" "14" "105615166" "105615166" "subst" "0" "01804" "JAG2_000028" "g.105615166G>A" "" "" "" "JAG2(NM_002226.4):c.1936C>T (p.(Arg646Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001010227" "21" "70" "14" "105609363" "105609363" "dup" "0" "03361" "JAG2_000029" "g.105609363dup" "" "" "" "" "ACMG PVS1_strong, PM2_sup, PP4_mod" "Germline" "" "" "0" "" "" "g.105143026dup" "" "likely pathogenic (recessive)" "ACMG" "0001010229" "11" "70" "14" "105613053" "105613053" "subst" "0" "03361" "JAG2_000030" "g.105613053C>T" "" "" "" "" "ACMG PM2_sup, PM3, PP3, PP4_mod" "Germline" "" "" "0" "" "" "g.105146716C>T" "" "likely pathogenic (recessive)" "ACMG" "0001039826" "0" "50" "14" "105609926" "105609926" "subst" "0" "01804" "JAG2_000031" "g.105609926G>A" "" "" "" "JAG2(NM_002226.5):c.3134C>T (p.(Ala1045Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039827" "0" "50" "14" "105609979" "105609979" "subst" "8.51151E-6" "01804" "JAG2_000032" "g.105609979C>A" "" "" "" "JAG2(NM_002226.5):c.3085-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039828" "0" "50" "14" "105614123" "105614123" "subst" "0" "01804" "JAG2_000033" "g.105614123C>T" "" "" "" "JAG2(NM_002226.5):c.2351G>A (p.(Arg784His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039829" "0" "50" "14" "105614454" "105614454" "subst" "4.24935E-5" "01804" "JAG2_000034" "g.105614454G>A" "" "" "" "JAG2(NM_002226.5):c.2247C>T (p.(Val749=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039830" "0" "50" "14" "105614514" "105614514" "subst" "0" "01804" "JAG2_000035" "g.105614514G>T" "" "" "" "JAG2(NM_002226.5):c.2187C>A (p.(Asp729Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039831" "0" "30" "14" "105615205" "105615205" "subst" "0.000215976" "01804" "JAG2_000036" "g.105615205C>T" "" "" "" "JAG2(NM_002226.5):c.1907-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039832" "0" "50" "14" "105617015" "105617015" "subst" "1.35881E-5" "01804" "JAG2_000037" "g.105617015C>T" "" "" "" "JAG2(NM_002226.5):c.1528G>A (p.(Gly510Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039833" "0" "50" "14" "105618300" "105618300" "subst" "4.06858E-6" "01804" "JAG2_000038" "g.105618300G>C" "" "" "" "JAG2(NM_002226.5):c.1014C>G (p.(Gly338=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039834" "0" "30" "14" "105622067" "105622067" "subst" "5.73973E-5" "01804" "JAG2_000039" "g.105622067C>T" "" "" "" "JAG2(NM_002226.5):c.727+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039835" "0" "50" "14" "105634154" "105634159" "dup" "0" "01804" "JAG2_000040" "g.105634154_105634159dup" "" "" "" "JAG2(NM_002226.5):c.358_363dup (p.(Arg120_Ala121dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046938" "0" "50" "14" "105613019" "105613019" "subst" "1.22682E-5" "03779" "JAG2_000041" "g.105613019G>A" "" "" "" "" "" "Unknown" "" "rs757271289" "0" "" "" "" "" "VUS" "" "0001055000" "0" "50" "14" "105634353" "105634353" "subst" "0" "01804" "JAG2_000042" "g.105634353T>C" "" "" "" "JAG2(NM_002226.5):c.158A>G (p.(Asp53Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069255" "3" "50" "14" "105614156" "105614156" "subst" "0" "00006" "JAG2_000044" "g.105614156A>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.105147819A>G" "SCV006074997.1" "VUS" "ACMG" "0001069340" "3" "50" "14" "105613723" "105613723" "subst" "8.84377E-6" "00006" "JAG2_000043" "g.105613723C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2_mod, PP3_mod" "Germline" "" "" "0" "" "" "g.105147386C>T" "SCV006074996.1" "VUS" "ACMG" "0001070017" "3" "50" "14" "105617981" "105617981" "subst" "0" "00006" "JAG2_000045" "g.105617981C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.105151644C>T" "SCV006074998.1" "VUS" "ACMG" ## 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 JAG2 ## Count = 60 "{{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}}" "0000289912" "00010248" "50" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(Asn723Ser)" "" "0000289913" "00010248" "30" "3476" "0" "3476" "0" "c.3476G>A" "r.(?)" "p.(Arg1159His)" "" "0000484338" "00010248" "70" "1791" "0" "1791" "0" "c.1791G>A" "r.(?)" "p.(Met597Ile)" "" "0000784003" "00010248" "90" "728" "0" "728" "0" "c.728C>A" "r.(?)" "p.(Ala243Asp)" "" "0000784004" "00010248" "90" "728" "0" "728" "0" "c.728C>A" "r.(?)" "p.(Ala243Asp)" "" "0000784005" "00010248" "90" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "" "0000784006" "00010248" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Ter)" "" "0000784007" "00010248" "90" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Thr95Ala)" "" "0000784008" "00010248" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Gly839Arg)" "" "0000784009" "00010248" "90" "2930" "0" "2930" "0" "c.2930T>C" "r.(?)" "p.(Phe977Ser)" "" "0000784010" "00010248" "90" "221" "0" "221" "0" "c.221G>C" "r.(?)" "p.(Cys74Ser)" "" "0000784011" "00010248" "90" "221" "0" "221" "0" "c.221G>C" "r.(?)" "p.(Cys74Ser)" "" "0000784012" "00010248" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Gly839Arg)" "" "0000784013" "00010248" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Gly839Arg)" "" "0000784014" "00010248" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Gly839Arg)" "" "0000784015" "00010248" "70" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Pro682Ser)" "" "0000784016" "00010248" "70" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Pro682Ser)" "" "0000784017" "00010248" "90" "3143" "0" "3147" "0" "c.3143_3147dup" "r.(?)" "p.(Val1050ProfsTer322)" "" "0000784018" "00010248" "90" "3143" "0" "3147" "0" "c.3143_3147dup" "r.(?)" "p.(Val1050ProfsTer322)" "" "0000784019" "00010248" "90" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Arg712Cys)" "" "0000784020" "00010248" "90" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Arg712Cys)" "" "0000784021" "00010248" "90" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Arg712Cys)" "" "0000784022" "00010248" "70" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Pro682Ser)" "" "0000784023" "00010248" "90" "1073" "0" "1073" "0" "c.1073A>T" "r.(?)" "p.(Asn358Ile)" "" "0000784024" "00010248" "90" "1073" "0" "1073" "0" "c.1073A>T" "r.(?)" "p.(Asn358Ile)" "" "0000784025" "00010248" "90" "1073" "0" "1073" "0" "c.1073A>T" "r.(?)" "p.(Asn358Ile)" "" "0000784026" "00010248" "90" "1245" "0" "1246" "0" "c.1245_1246del" "r.(?)" "p.(Trp415CysfsTer11)" "" "0000784027" "00010248" "90" "2473" "0" "2473" "0" "c.2473C>T" "r.(?)" "p.(Arg825Cys)" "" "0000784028" "00010248" "90" "0" "0" "0" "0" "c.-403_*1714{0}" "r.0?" "p.0?" "_1_26_" "0000784029" "00010248" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Gly839Arg)" "" "0000784030" "00010248" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Gly839Arg)" "" "0000784031" "00010248" "90" "2105" "0" "2107" "0" "c.2105_2107del" "r.(?)" "p.(Asp702del)" "" "0000784032" "00010248" "90" "2105" "0" "2107" "0" "c.2105_2107del" "r.(?)" "p.(Asp702del)" "" "0000863480" "00010248" "50" "3541" "0" "3541" "0" "c.3541G>A" "r.(?)" "p.(Glu1181Lys)" "" "0000863481" "00010248" "30" "3024" "0" "3024" "0" "c.3024C>T" "r.(?)" "p.(Arg1008=)" "" "0000950207" "00010248" "30" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Ala699Val)" "" "0000980790" "00010248" "30" "3349" "0" "3349" "0" "c.3349C>T" "r.(?)" "p.(Arg1117Trp)" "" "0000980791" "00010248" "30" "3085" "-9" "3085" "-9" "c.3085-9T>C" "r.(=)" "p.(=)" "" "0000980792" "00010248" "50" "2459" "0" "2459" "0" "c.2459C>T" "r.(?)" "p.(Ala820Val)" "" "0000980793" "00010248" "50" "1269" "0" "1269" "0" "c.1269C>A" "r.(?)" "p.(Asp423Glu)" "" "0000980794" "00010248" "30" "1268" "-9" "1268" "-9" "c.1268-9C>G" "r.(=)" "p.(=)" "" "0001000760" "00010248" "50" "2557" "0" "2557" "0" "c.2557T>G" "r.(?)" "p.(Cys853Gly)" "" "0001000761" "00010248" "50" "1936" "0" "1936" "0" "c.1936C>T" "r.(?)" "p.(Arg646Cys)" "" "0001010227" "00010248" "70" "3389" "0" "3389" "0" "c.3389dup" "r.(?)" "p.(Leu1131Alafs*9)" "" "0001010229" "00010248" "70" "2488" "0" "2488" "0" "c.2488G>A" "r.(?)" "p.(Glu830Lys)" "" "0001039826" "00010248" "50" "3134" "0" "3134" "0" "c.3134C>T" "r.(?)" "p.(Ala1045Val)" "" "0001039827" "00010248" "50" "3085" "-4" "3085" "-4" "c.3085-4G>T" "r.spl?" "p.?" "" "0001039828" "00010248" "50" "2351" "0" "2351" "0" "c.2351G>A" "r.(?)" "p.(Arg784His)" "" "0001039829" "00010248" "50" "2247" "0" "2247" "0" "c.2247C>T" "r.(?)" "p.(=)" "" "0001039830" "00010248" "50" "2187" "0" "2187" "0" "c.2187C>A" "r.(?)" "p.(Asp729Glu)" "" "0001039831" "00010248" "30" "1907" "-10" "1907" "-10" "c.1907-10G>A" "r.(=)" "p.(=)" "" "0001039832" "00010248" "50" "1528" "0" "1528" "0" "c.1528G>A" "r.(?)" "p.(Gly510Ser)" "" "0001039833" "00010248" "50" "1014" "0" "1014" "0" "c.1014C>G" "r.(?)" "p.(=)" "" "0001039834" "00010248" "30" "727" "8" "727" "8" "c.727+8G>A" "r.(=)" "p.(=)" "" "0001039835" "00010248" "50" "358" "0" "363" "0" "c.358_363dup" "r.(?)" "p.(Arg120_Ala121dup)" "" "0001046938" "00010248" "50" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Thr841Met)" "" "0001055000" "00010248" "50" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Asp53Gly)" "" "0001069255" "00010248" "50" "2318" "0" "2318" "0" "c.2318T>C" "r.(?)" "p.(Phe773Ser)" "" "0001069340" "00010248" "50" "2419" "0" "2419" "0" "c.2419G>A" "r.(?)" "p.(Gly807Ser)" "" "0001070017" "00010248" "50" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000240300" "0000484338" "0000373757" "0000784003" "0000373758" "0000784004" "0000373759" "0000784005" "0000373760" "0000784006" "0000373760" "0000784026" "0000373761" "0000784007" "0000373761" "0000784027" "0000373762" "0000784008" "0000373762" "0000784028" "0000373763" "0000784009" "0000373764" "0000784010" "0000373764" "0000784029" "0000373765" "0000784011" "0000373765" "0000784030" "0000373766" "0000784012" "0000373767" "0000784013" "0000373768" "0000784014" "0000373769" "0000784015" "0000373770" "0000784016" "0000373771" "0000784017" "0000373771" "0000784031" "0000373772" "0000784018" "0000373772" "0000784032" "0000373773" "0000784019" "0000373774" "0000784020" "0000373775" "0000784021" "0000373776" "0000784022" "0000373777" "0000784023" "0000373778" "0000784024" "0000373779" "0000784025" "0000456542" "0001010227" "0000456542" "0001010229" "0000474857" "0001069255" "0000474942" "0001069340" "0000475624" "0001070017"