2024-03-29 PLCG2 - NM_002661.5 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID Exon 2 A21V p.(Ala21Val) c.62C>T substitution 1 C>T Not classified NO NO Sequencing Sanger Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown India/Asian 2021-05-27 Publication (PubMed PMID): 33815380 Exon 2 T26M p.(Thr26Met) c.77C>T substitution 1 C>T Uncertain significance (VUS) YES NO Sequencing Sanger Symptomatic overlap of PLAID and APLAID Heterozygous Unknown /Caucasian 2023-03-03 Publication (PubMed PMID): 35955991 Exon 2 M28L p.(Met28Leu) c.82A>T substitution 1 A>T Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 2 D59G p.(Asp59Gly) c.176A>G substitution 1 A>G Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown France/ 2019-05-13 Fischbach M Dumont B Personal communication Exon 4 P139S p.(Pro139Ser) c.415C>T substitution 1 C>T Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic PLCG2-AID (APLAID) Heterozygous Inherited from a symptomatic parent / 2023-03-03 Publication (PubMed PMID): 33936634 Exon 6 I169V p.(Ile169Val) c.505A>G substitution 1 A>G Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown India/Asian 2019-05-13 Sawhney S Fabre A Mechin D Sarrabay G Touitou I Personal communication Exon 7 H193Q p.(His193Gln) c.579C>G substitution 1 C>G Uncertain significance (VUS) YES NO Sequencing Sanger Sequencing NGS Symptomatic Undefined-AID Unknown Unknown Iran, islamic republic of/ This missense variant is recessively inherited. The associated phenotype is not consistent with typical denovo/AD mutations associated with APLAID 2020-04-02 Publication (PubMed PMID): 32014489 Exon 7 S216L p.(Ser216Leu) c.647C>T substitution 1 C>T Uncertain significance (VUS) YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 8 V227M p.(Val227Met) c.679G>A substitution 1 G>A Uncertain significance (VUS) UNKNOWN UNKNOWN Sequencing NGS Symptomatic Undefined-AID Unknown Unknown France/Caucasian Juvenil arthritis and uveitis (Blau sd suspected) 2020-07-01 Miceli C Rittore C Boursier G Touitou I Personal communication Exon 9 P236L p.(Pro236Leu) c.707C>T substitution 1 C>T Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Vasculitis Unknown Unknown Spain/Mediterranean 2019-05-13 Cohen Aubart F Sarrabay G Touitou I Personal communication Exon 9 H244R p.(His244Arg) c.731A>G substitution 1 A>G Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 10 R268W p.(Arg268Trp) c.802C>T substitution 1 C>T Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian Seen in homozygosity in this patient 2019-07-16 Grossi A Ceccherini I Personal communication Exon 13 A393T p.(Ala393Thr) c.1177G>A substitution 1 G>A Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/Caucasian 2023-07-28 Guilpain P Rittore C Fabre A Boursier G Personal communication Exon 14 P425S p.(Phe425Ser) c.1274T>C substitution 1 T>C Uncertain significance (VUS) YES NO Sequencing Sanger Sequencing NGS Symptomatic PLCG2-AID (APLAID) Heterozygous Unknown / 2023-03-03 Publication (PubMed PMID): 31408184 Exon 15 Y482H p.(Tyr482His) c.1444T>C substitution 1 T>C Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Intron 15 1468-1G>T p.? c.1468-1G>T substitution 1 G>T Likely pathogenic UNKNOWN NO Sequencing NGS Non symptomatic Undefined-AID Unknown Unknown France/ 2019-05-13 Pagnier A Sarrabay G Touitou I Personal communication Exon 16 I509T p.(Ile509Thr) c.1526T>C substitution 1 T>C Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Non symptomatic Undefined-AID Unknown Unknown France/ In another individual, inherited from an asymptomatic parent. 2019-05-13 Echaubard S Sarrabay G Touitou I Personal communication Exon 17 N571S p.(Asn571Ser) c.1712A>G substitution 1 A>G Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 18 M592R p.(Met592Arg) c.1775T>G substitution 1 T>G Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic PLCG2-AID (APLAID) Heterozygous Inherited from a symptomatic parent United states/Caucasian 2023-03-03 Collins C Alcaraz W and Touitou I Personal communication Exon 19 del_Exon19_5.9kb p.(Trp646_Arg685del) c.1935-521_2054+5385del deletion 5925 CGTGAGCCACCACGCCTGGCCCAATTTTTGTATTTTTAGTAGAGACAGAG TTTCGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGGCTTCTCGCGATCC ACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTG CCCAGGCTATTTTATTTTTTATAGAGATGGGGGTCTCATTGTGTTGGCCA GGCTGGTCTCAAACTCCTGACCCCAAGTGATCCTCCTGCCTCAGCCTCCC AAAGTGCTGGGATTTCAGGTGTGAACCACTGTGCTCGGCCCAATGTATTA TTTTGGGCTTGAAACAGACCCCTGGGGTCTTCCACTATTCTTTTCACAAA TTCTCTTTGCTGAGGTGCCTTTGTCTGGGGAAGCCCACTGTGTGATTTCC ATGGTCGTTTCCAGGGCCAGGTTCCAGGTGTCACTGGTGCCATTATCTTG TCCTCTGCGGGTGGCCCACTGACAGCCTGGAGACCGCTCACCTGGTCGTT TTCCCTGGCCCTGTGCCGCAGGTGGTACTATGACAGCCTGAGCCGCGGAG AGGCAGAGGACATGCTGATGAGGATTCCCCGGGACGGGGCCTTCCTGATC CGGAAGCGAGAGGGGAGCGACTCCTATGCCATCACCTTCAGGTGGGTGCG AGGGTGGGAGGCACATGCTCTACAGAGGGGCTTGGCAAGGACAGATGCGG AGAGACAAGGGGGAACTTCAGGTGGAGGCTCACCTGCAGTGCCCTGCCCC CCCAGCATCAGCGACAACAACAACCACCACAGCAAAAGCCGCTGCGAGAA TGTGCGCTCCTGCGTGCCAGGCACAGTCTGCGTTCTCCAGGGCAGGATGT TCTGTAGTAACTCACTTTGGCTTCCAGTAACTCTGTGGGGTTGACATGAC CATGATCCGTGTTTCTCAGAGGAGGAAACTGAGGCACAGCAAGATTAAGT AACTTGCTGAAGCATGCAGCCACTAAGTGGTGGGGCTGGGATTCGAGCCC AGACAGCCCAGGCAGCCCAGGCCTGTGATGATATAGATCTGGTTTCCTCC CAACTGCAGCTGCTGCCCAACCACCTCTAGGCCTGTGGTTCTCTAATGTT ACCCCAAAACGCCAGATTCTCCCACTTCCACTAATGACAAGGAGCCGAGG AGTGACTCAGACTCCGTGTAGCCTACTGTCCCTCCATCTCCCCAGCCCCA GGGTTTCCCTGCATGTTCTTACGGTGGTAACAGTCTGCTATATGTTGAGT TCCTAACCGTGTTCTAGACACTGGACTGCCTTCAAGGCCTCATCTGATTG AATCCTTTGCTACAGCCTGTGAGAGGTAGGTCTAGTTATTGCAAGGGAGG AAACAGGACCAGAGAGGTTAAGTGACCTGCCTGGAGTCACACAGCCTCAT AGTCAACTGAGTTTGAGGTTCAGATGCAGGCCTGTCCGTCTCCAAAGCCT AAGCTCTTCACTCCAGAGTCTCTAGCCAGAGGCCTGGGGGCCAAATCTCC AGCCAGAGGCCTGTGGGCGTCTTTTGTACACTGATGTGAAAAACTGAGAA ATTTCACTGAAAAACTCAGATTGCTTCTTGTGAAAAATGGGAGGCAGTGG ATGCTCTGGGCCTGTGTTTCCACATGGGCGCGGTGGTGCTGGCTGCATGG CAGCTACTGTGGGGTGTGTGGTTTGCCCCTGTCCACTCCTCTCCCCATTC CCTCTGCCCTGATCCCATCCCCTGGTGACCCTGCCAGGCTGCCCCCTGGG CGTTTGGATTTCCCTTCCTCCTTGCCTGCACCACTATGCCTGAGCCACCT CCCTGGGGACCGTGGTGACGGTCATTATCACTATAGTTTACTGAGGACCT ACTGTGTACTGGCTCCAGCCAGAGAGCAGCCTCCCACCAGCATGGCTTTT CTGTACTCTCTGTTCCCAAGAGGGTGACCTGGGCTTCTCAGCATTGGTGC CTCTGCCCTTTGCTCTTTCCCCTAAGCCTCTTAGTGGTACCTCCTCAGCC TGGATGGGGAGGAGGTGTGTTCAGTCCGCTGCACACGGATTGAAAACCTG CTGTGTGCCAGGCCCCAGGTGGGGTGTTGGCACTCCCACTGTGCTGTCAT CCTGTGCAAATGATGGCAACTAAACCCAACTGGCTGAAACTGAGGTGCCC AAGCGGTGAGACAGCTCTGACACAACCGGATCGGGGCCTCACCTGATGAT GGTCAGGATGCCACCTGTATGTGCATGCTGGCGTTACTCTCCATCAGCTT CTGTCTCAGGTGGCTGTACCTTGGGCTGCCAGGACAGTGTCCGGCAGAAA GGATGGCCCCCTCCCTGAGCCAGGTGGCATGATTCTGACAGGCCATCTGG GGATGGGGTTGGGGTCACTTCAATGGGACCGCGTGAATGAAGAGGTTGGG TGGGTCCTCAGGTTGATTGCCTGACTTACATACACGCCCCATTCAGTTTG TGAGCTTGTCTTCCCCATGAGATTGGAGGTGTCTTGAGAATGGAAGTTTT TATTTTTTAGAAGTTAATAGATGTTTGGTGAGCACCTACTGTGTGCCGGG CCCTGTGCTGGGCTCCAGAGATGCAGGAGTGATAAAAACAGCCCAGTCCT TGCTCTCTCAGGCTAATGGTCTGGCAGGGATGAGAGACATCGCCTTACTC CAAGTGTTTCTTGCTTTTGACCTGTTCCTGCTTATGTAACATTGGCTGGG ATGTAGTTGGTGGTTGGTGAATGCTGGCTCAGTGAATCAATCAGCAAGGA TGGCCGCTCCCCACCTCACCCCATGGCCCACTGTCAGGGAAGCTCAGTCC ACACAGTGTTTCTCAAAGAGTTGGGGTGTGAGGACTGATCCTGTTGTATT TGGATGTTGAACTTCCCTGGTCTCTACCCACTGCATGTCTGTCTGGGACC CTAAGTCATTGTAACAATCAAAAATAACATCCCTGCCCCAGGACACACAC TTTTTCAAACCCTCTCTGGTCAGGGTATGGGGTGAAGCGTCACTGTCCTT CACTGAGAAGCACTGAGGAGGTTTGAGCACATAAGGAAATCAGTGTAGTA TTTTGTGATGAGTGCTACAAAGGGATTGGTCAGGCAGGGTGGTGGAGGGT GAGTAGCTCTCCAGGGAAACGGATGGGGAATTTGGACCAGGCAGTAGGGG AACACAGGTCTGCAGCAACTTCTCCTTGCCCTCTACATATTTGTAAAGTG CCTCTCCTGTGCCAGGCACTGTTCTGGGCTCTGGGGATGTGTAATGAACT TCTGGATAGATTTCCCCAGTAGAGGAGAAACACCTGCTTTCAAATCCACA AAGGAAGTGTTGAGTTGTTGCCCGGCTGTGATTGGTGGAAGGCATCTCTT GGGCAGTGAAGCTGAGACCTCAGGCTGTGGCCGTGGCATCCACGCTCCAG GAGGATGGAAGATGCAACTCGTATTCCAGACCTGTTCCCATCTCCCCTTC TGATTCTCTTTTCTCCCAGGGAAGTTAGTTGTGGGTTGATTTCATTTATG TTTTCCAAACCATTCACTTACTGAGTCCTGCCTGAGTGCCAGACACTGTG CCGACAGCTTACCCTGAATAAGCTAATAGACGATGATCCTAATGCTCCCC ATGCGACGGGTTGTGGATCCCCGATGCTGTGGATCGGGAAGCTGAGGCTT AGGGGTCCCCTGTGGAAGGAGCCGGAACCTGACCTTGGCTCTGTACCTCG GCACCCCAGAGCCCCCCTGCCTGCCCTGAGGAGCTCTTATAAAAAGTTTT AAAATTAATTTTTAATTACATGAATATTGCAGGAGGATATTCTCTCTATA AAAAATTAAGACATTACAGTGAAGGCTAAAGCCCCCTGTGGTCCTTCTAA TCTCAGTAGAGAGGTCCTGGTAGAAAGCACAGTTTTCTAGCTGGTGTGTC CATCCAGACATTTAAAAAATATGTACATATTTATACATGTCTGTATCTAT GGAAAATATATGGTGCCATTTTGTGTCTGGGTATTTTCATTCTATTTTTA GAAAATACAAATGGGAACATTCTGCAGCTTTTCTACTCAGCAGTGTTTCT TTTCTTTCCTCTGTTTTTTTAGAAGGAATAAATATTTAATAAAATATCAC TGGAAATAAACCACTGAAGCAGAAGTCTTCTAGCATTTTGTTTTTACAGG ACTTTTTGACGAAATCGCTTAAAGCAATATATTTTTTTTTTCAAAAGACT GGAAATCCTTTTTTAAAAAAAGAAAAAAAACAACGTTTTTTAAAAAAAGA AAAAAATAAATATTTTAAAACAAAAAGTCTCTCTATAGTGCAAAAAATGC CTTTTCTTGATTTTTTTCCCTGCCATGCAAAATTGTTAAATGAGCAGTAT GCCCATAGAAACGATGCCTCTAGATGCTTTTCCTAATTTATTTAATTGAC AAATAAAAGTTGTTTATATGTATCATGTACAACATGGTGTTTTGAAATAT GTATACATGGTGAAATGGCTAAATTGAGATAATAACATATACACACACTT AACCATTTTTTTTTTGTGTGTGGTGAGACTTAAAGTCTACCCTCAGCAAT TTTCAAGAATACAGGACATATTTTTTTTTTGAAATGGAGTCTTGCTCTGT TGCCCAGTCTGGAGTGCAGGGGCGTGATCTTGGCTCACTGCAACCTGCAC CTCCTGGGTTCAAGGGAGTCTCCTGCCTCAGGCTCCTGAGTAGCTGGGAT TACAGGCATGCACCACCATGCCTGGCTAAGTTTTGTATTTTTGGTAAAGG TGGGGTTTCACCATGTTGGCCAGGCTGGTATCGAACTGCTGACCTCTGGT GATCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCA CCACGCCCGGCCAGGACTTTGTTATTGACTATAGTCCCTATGCTGTACCA TAGATCTCTTGCACTTACTCCTCTTGTCTAACTGAAATTTTGTATCCTTT GACCAACATATCCCCAACACTCCCTACCTCCCCCTGCCCCGGACCCTGGT AACCACCATTCTACTCTCCACTTCCGTGAGTTTAAACCTTTTTAGGTTTC ACGTATGAGATCCTGTGGTATTTGTTTTTCTGTGCCTGGTTTATTTCACA CAGCACAATGTCCTCCAGGTTCATCCATGCTGTTGCAAATGACAGGCTTT CCTTTTTTTTTTTTTTTTTTAAAGCAAATGGTATTCCATTATGTAAATGT ACCACATTTTCTTTATCCATTTATCTGTTGATGGGCAGGCTGATTCTACA CCTTGGCTATGGTGAATGGTGCTATGAACATGGGAGTGCAGCTTTCTCTT TGACATATTGATTTCCTTTCCTTCAGATATATACCGAGAAGTGGGATTGC TAGATCCCATGGTGTTCTATTTTTAATTTTTTGAGGAACCTCTGTACTGT TTTCCATAGTGGCTATGCTAATTTACAGTCCCACCCACCAGGTGCAGGGG TCCCCTTTTCTCCACATCCCCACCAGCACTTCTCCTTTAGCTAATAGCCA TTCTAACAGGTGTGAGGTGACATCTCATAGTGGTTTTAATTTGCATTTAT CTGATGATTAGTGATGCTGAACATTTTTTACGTAACTGTTGGCCATTTAT GTATCTTCCTTTGAGAAATGTCTATTCAGATCCTTTGTCCATTTTTTAAA ATTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTG CAGTGGTGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCC ATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCAC TGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGCTGGTATCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTG GCCTCCCAAAGTGCTGGAATTACAGG Not classified UNKNOWN YES Unknown In frame deletion/insertion Sequencing Sanger Symptomatic PLAID Unknown Unknown United states/Caucasian This deletion variant includes a portion of intron 18, all of exon 19, and a portion of intron 19. 2015-10-01 Publication (PubMed PMID): 22236196 Exon 19 del_Exon19_4.8kb p.(Trp646_Arg685del) c.1935-322_2054+4100del deletion 4839 AACCTTTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGT AGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTGTATTT TTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCATGATCCACCCGCCTCAACCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCACGCCTGGCCCAATTTTTGTATTTTTAGTAGAGACAGAGT TTCGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGGCTTCTCGCGATCCA CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGC CCAGGCTATTTTATTTTTTATAGAGATGGGGGTCTCATTGTGTTGGCCAG GCTGGTCTCAAACTCCTGACCCCAAGTGATCCTCCTGCCTCAGCCTCCCA AAGTGCTGGGATTTCAGGTGTGAACCACTGTGCTCGGCCCAATGTATTAT TTTGGGCTTGAAACAGACCCCTGGGGTCTTCCACTATTCTTTTCACAAAT TCTCTTTGCTGAGGTGCCTTTGTCTGGGGAAGCCCACTGTGTGATTTCCA TGGTCGTTTCCAGGGCCAGGTTCCAGGTGTCACTGGTGCCATTATCTTGT CCTCTGCGGGTGGCCCACTGACAGCCTGGAGACCGCTCACCTGGTCGTTT TCCCTGGCCCTGTGCCGCAGGTGGTACTATGACAGCCTGAGCCGCGGAGA GGCAGAGGACATGCTGATGAGGATTCCCCGGGACGGGGCCTTCCTGATCC GGAAGCGAGAGGGGAGCGACTCCTATGCCATCACCTTCAGGTGGGTGCGA GGGTGGGAGGCACATGCTCTACAGAGGGGCTTGGCAAGGACAGATGCGGA GAGACAAGGGGGAACTTCAGGTGGAGGCTCACCTGCAGTGCCCTGCCCCC CCAGCATCAGCGACAACAACAACCACCACAGCAAAAGCCGCTGCGAGAAT GTGCGCTCCTGCGTGCCAGGCACAGTCTGCGTTCTCCAGGGCAGGATGTT CTGTAGTAACTCACTTTGGCTTCCAGTAACTCTGTGGGGTTGACATGACC ATGATCCGTGTTTCTCAGAGGAGGAAACTGAGGCACAGCAAGATTAAGTA ACTTGCTGAAGCATGCAGCCACTAAGTGGTGGGGCTGGGATTCGAGCCCA GACAGCCCAGGCAGCCCAGGCCTGTGATGATATAGATCTGGTTTCCTCCC AACTGCAGCTGCTGCCCAACCACCTCTAGGCCTGTGGTTCTCTAATGTTA CCCCAAAACGCCAGATTCTCCCACTTCCACTAATGACAAGGAGCCGAGGA GTGACTCAGACTCCGTGTAGCCTACTGTCCCTCCATCTCCCCAGCCCCAG GGTTTCCCTGCATGTTCTTACGGTGGTAACAGTCTGCTATATGTTGAGTT CCTAACCGTGTTCTAGACACTGGACTGCCTTCAAGGCCTCATCTGATTGA ATCCTTTGCTACAGCCTGTGAGAGGTAGGTCTAGTTATTGCAAGGGAGGA AACAGGACCAGAGAGGTTAAGTGACCTGCCTGGAGTCACACAGCCTCATA GTCAACTGAGTTTGAGGTTCAGATGCAGGCCTGTCCGTCTCCAAAGCCTA AGCTCTTCACTCCAGAGTCTCTAGCCAGAGGCCTGGGGGCCAAATCTCCA GCCAGAGGCCTGTGGGCGTCTTTTGTACACTGATGTGAAAAACTGAGAAA TTTCACTGAAAAACTCAGATTGCTTCTTGTGAAAAATGGGAGGCAGTGGA TGCTCTGGGCCTGTGTTTCCACATGGGCGCGGTGGTGCTGGCTGCATGGC AGCTACTGTGGGGTGTGTGGTTTGCCCCTGTCCACTCCTCTCCCCATTCC CTCTGCCCTGATCCCATCCCCTGGTGACCCTGCCAGGCTGCCCCCTGGGC GTTTGGATTTCCCTTCCTCCTTGCCTGCACCACTATGCCTGAGCCACCTC CCTGGGGACCGTGGTGACGGTCATTATCACTATAGTTTACTGAGGACCTA CTGTGTACTGGCTCCAGCCAGAGAGCAGCCTCCCACCAGCATGGCTTTTC TGTACTCTCTGTTCCCAAGAGGGTGACCTGGGCTTCTCAGCATTGGTGCC TCTGCCCTTTGCTCTTTCCCCTAAGCCTCTTAGTGGTACCTCCTCAGCCT GGATGGGGAGGAGGTGTGTTCAGTCCGCTGCACACGGATTGAAAACCTGC TGTGTGCCAGGCCCCAGGTGGGGTGTTGGCACTCCCACTGTGCTGTCATC CTGTGCAAATGATGGCAACTAAACCCAACTGGCTGAAACTGAGGTGCCCA AGCGGTGAGACAGCTCTGACACAACCGGATCGGGGCCTCACCTGATGATG GTCAGGATGCCACCTGTATGTGCATGCTGGCGTTACTCTCCATCAGCTTC TGTCTCAGGTGGCTGTACCTTGGGCTGCCAGGACAGTGTCCGGCAGAAAG GATGGCCCCCTCCCTGAGCCAGGTGGCATGATTCTGACAGGCCATCTGGG GATGGGGTTGGGGTCACTTCAATGGGACCGCGTGAATGAAGAGGTTGGGT GGGTCCTCAGGTTGATTGCCTGACTTACATACACGCCCCATTCAGTTTGT GAGCTTGTCTTCCCCATGAGATTGGAGGTGTCTTGAGAATGGAAGTTTTT ATTTTTTAGAAGTTAATAGATGTTTGGTGAGCACCTACTGTGTGCCGGGC CCTGTGCTGGGCTCCAGAGATGCAGGAGTGATAAAAACAGCCCAGTCCTT GCTCTCTCAGGCTAATGGTCTGGCAGGGATGAGAGACATCGCCTTACTCC AAGTGTTTCTTGCTTTTGACCTGTTCCTGCTTATGTAACATTGGCTGGGA TGTAGTTGGTGGTTGGTGAATGCTGGCTCAGTGAATCAATCAGCAAGGAT GGCCGCTCCCCACCTCACCCCATGGCCCACTGTCAGGGAAGCTCAGTCCA CACAGTGTTTCTCAAAGAGTTGGGGTGTGAGGACTGATCCTGTTGTATTT GGATGTTGAACTTCCCTGGTCTCTACCCACTGCATGTCTGTCTGGGACCC TAAGTCATTGTAACAATCAAAAATAACATCCCTGCCCCAGGACACACACT TTTTCAAACCCTCTCTGGTCAGGGTATGGGGTGAAGCGTCACTGTCCTTC ACTGAGAAGCACTGAGGAGGTTTGAGCACATAAGGAAATCAGTGTAGTAT TTTGTGATGAGTGCTACAAAGGGATTGGTCAGGCAGGGTGGTGGAGGGTG AGTAGCTCTCCAGGGAAACGGATGGGGAATTTGGACCAGGCAGTAGGGGA ACACAGGTCTGCAGCAACTTCTCCTTGCCCTCTACATATTTGTAAAGTGC CTCTCCTGTGCCAGGCACTGTTCTGGGCTCTGGGGATGTGTAATGAACTT CTGGATAGATTTCCCCAGTAGAGGAGAAACACCTGCTTTCAAATCCACAA AGGAAGTGTTGAGTTGTTGCCCGGCTGTGATTGGTGGAAGGCATCTCTTG GGCAGTGAAGCTGAGACCTCAGGCTGTGGCCGTGGCATCCACGCTCCAGG AGGATGGAAGATGCAACTCGTATTCCAGACCTGTTCCCATCTCCCCTTCT GATTCTCTTTTCTCCCAGGGAAGTTAGTTGTGGGTTGATTTCATTTATGT TTTCCAAACCATTCACTTACTGAGTCCTGCCTGAGTGCCAGACACTGTGC CGACAGCTTACCCTGAATAAGCTAATAGACGATGATCCTAATGCTCCCCA TGCGACGGGTTGTGGATCCCCGATGCTGTGGATCGGGAAGCTGAGGCTTA GGGGTCCCCTGTGGAAGGAGCCGGAACCTGACCTTGGCTCTGTACCTCGG CACCCCAGAGCCCCCCTGCCTGCCCTGAGGAGCTCTTATAAAAAGTTTTA AAATTAATTTTTAATTACATGAATATTGCAGGAGGATATTCTCTCTATAA AAAATTAAGACATTACAGTGAAGGCTAAAGCCCCCTGTGGTCCTTCTAAT CTCAGTAGAGAGGTCCTGGTAGAAAGCACAGTTTTCTAGCTGGTGTGTCC ATCCAGACATTTAAAAAATATGTACATATTTATACATGTCTGTATCTATG GAAAATATATGGTGCCATTTTGTGTCTGGGTATTTTCATTCTATTTTTAG AAAATACAAATGGGAACATTCTGCAGCTTTTCTACTCAGCAGTGTTTCTT TTCTTTCCTCTGTTTTTTTAGAAGGAATAAATATTTAATAAAATATCACT GGAAATAAACCACTGAAGCAGAAGTCTTCTAGCATTTTGTTTTTACAGGA CTTTTTGACGAAATCGCTTAAAGCAATATATTTTTTTTTTCAAAAGACTG GAAATCCTTTTTTAAAAAAAGAAAAAAAACAACGTTTTTTAAAAAAAGAA AAAAATAAATATTTTAAAACAAAAAGTCTCTCTATAGTGCAAAAAATGCC TTTTCTTGATTTTTTTCCCTGCCATGCAAAATTGTTAAATGAGCAGTATG CCCATAGAAACGATGCCTCTAGATGCTTTTCCTAATTTATTTAATTGACA AATAAAAGTTGTTTATATGTATCATGTACAACATGGTGTTTTGAAATATG TATACATGGTGAAATGGCTAAATTGAGATAATAACATATACACACACTTA ACCATTTTTTTTTTGTGTGTGGTGAGACTTAAAGTCTACCCTCAGCAATT TTCAAGAATACAGGACATATTTTTTTTTTGAAATGGAGTCTTGCTCTGTT GCCCAGTCTGGAGTGCAGGGGCGTGATCTTGGCTCACTGC Not classified UNKNOWN YES Unknown In frame deletion/insertion Sequencing Sanger Symptomatic PLAID Unknown Unknown United states/Caucasian This mutation includes a portion of intron 18, all of exon 19, and a portion of intron 19 2015-10-01 Publication (PubMed PMID): 22236196 Exon 20 del_Exon20-22 p.(Ala686_Arg685del) c.2055-1396_2417+2699del deletion 8226 CTGTTTGACTTCCTTATATATTTTGGATATTGACCCCTTACCAGATGTTC AGTTTGCAGATGTTTTTCCCATTCTGTAGGTTGTTTATTTACTCTGTTGA TTCTTTCCTTGGCTATGTAGAAGCCTCTTAGTTTGATAAAATCCCATTTA TCCACTTTCACTTTTGTTGCCTGTGCTTTTGGGGTCATATCTGAAAAATA ATTGCCCAGACCAATGCTACGGAGGTTTTCCTCTCTGTTTTCTTCTAGTA GTTTTACAGTTTCAGGTCTTATGTTTAAGTCTTTAATCCATTTTGAGCTG CTTTTTTTGTTTATGGTGTGAGATAATGGTCTAGTTTTCTTCTTTCGAAA TTGCTATTATTTCTATATAGGAATTTATTTCAAAATTCTTTTAATTTTTT TAAATCTAGGTTTCCCAACCCTACTTATTTAACAGACTGTCCTTTCCCCC TGGTGTGTTCTAGACATCTTTATTGAAGATCAGTTGACTGTAAATGCATG GATTTATTTCTTGGCTATCTATTCTGTTCCACTGGTCTGTGTGTCTGTTT TTATGCCACTGTTGTGCTATTTTTATTACTATAGCTTTGTAGTATATTTT GAAGTAAGATAGTGTGCTATCTGCAGCTTTGTTATTTTTGCTCAAAATTG CTTTGGCTATTTGGGGTAGACATTTTTAAAAAGACCCTCTTGGCTGTAAA CTTAGGGTCAAAAATATTTTTCCAGATGTTTCTGTCTTGCTGATAAAAGC TAATAAAACCAAGGAGGCTCTTCTGTTTTGGATTTTTTCTGCTTCATGTT TCAAACAGATGAAGGAATGAAAGACTTGTTTCTTTTTTTTTTTAAAAAAA GTCACTGTTTTGCTAGTTGAGTCACCGAAGACAAGATTTAATAATTTTGA GGTGGGGGGGATTGGCAAACATTTTCTGTGAAGGACCACAGAGTGAATAT TTTAGGTTTTGCAGGCCATATGGTCTCTGTTGCAGCTACACAACTCTGCT GTTACAGTGTGAAAACAGTCCCAGACAATGTATAAACAAATGAACTGTAG CTGTGTTTCAATAAAGCTTTATTTATAAAAGCAGGTGGTGGGACACATTT GGCCTACTCTTGACCTAGTTCCCTAGGAAGCTCCTAAAGTCAAGTCCTGT AGTTGGGGAGGAGAGGAAGGGTAAGAGGAGCTGTTGAGTCACTCGGCCAT ATTTCTTCTGAGACACAGATTCTTCTAGATCTGTTTTGAAAATACCCACA TCATTGTTTTCTTATTGTCTTGTATTCCATAGGAGGACTATACCCTGTTT ATTTACCCACTTCTCTAAGGCTGGATAACTAGGTTGTATCTAATCAGTAG GGTTTGTGTAAAAATTGTTTGGCCACCAGGATCTTGGCATGTCAACCCTG TGTTCTTCCTGCTCCAGGGCTAGGGGCAAGGTAAAGCATTGTCGCATCAA CCGGGACGGCCGGCACTTTGTGCTGGGGACCTCCGCCTATTTTGAGAGTC TGGTGGAGCTCGTCAGTTACTACGAGAAGCATTCACTCTACCGAAAGATG AGACTGCGCTACCCCGTGACCCCCGAGCTCCTGGAGCGCTACAATATGGT AGGTGGTGGACTCCCTTGTGATTTGGTGGGATTTCTTGTCTGAGGTTGTA ACTCATCTGTTCATGAATTCAGCAAACCTCTGAGTATTCACCATGTATCT GATACTGCTGTAGGTCCTGGGGATACAAATTGAGCACAACAAAGACCCTG CCGTTGTGCTGCTTATAGTGTAGTGTTGGGGAGATGCAACAAATGACATT TAAAATATCCATAGCATGTGCCAGATGGTGATGAGTGCTATGGAGAAAAA CACTGGGCAGGTGGATAAGAGGATACAGAGTGATGGGGAAGGGGTTGAAG TTTTCAGAGGGTGGTCTAGGAAGATCTCACTGAAAAGGAATGAGCCATGT GGGTATGTTCTGGAGGAAGAGAGGATAGCATGCGCAAAGGTCCTGAGGTA GAAGCCTGCCTGGAGGCACCAAGAGGAAGTCAGCATGGCCGGAATCAAGC CAGCCCAGGTGGGGGTAGAGCTAAATAAGGATGAGGGTTCACAGGTGACT TATCATGCAGGGGCTCATAGGCCATTGTAAGGCCCTGGCTTTTTCTCTGA GTCATTGGAGAGTTCTGGGTGCAGGAGAGACCTGATGTGGTTACTTTGTC TCCATTCCTACCACATAGATCATTAATTTATTGAAGAGAGATTTATGGCA TCCCGATCATGTGCCAAGGACTGTTCTAGATACTAGGAGTACTGTGGAAC AAAATCTGCTTTGGGAAATTTAGGTTCTGGAGAGGAGAGACAGATAATAT ACACAATTAAGATGTTTTCAGGTAGCATGAAATATAATAAAGCAAAGAAA ACAGGATAGTGTGAAAAGGGGTGGACACTACCTTAGGCTGTGGGAGTGGA GATCAGAGAAGGCCACCTTAAAAGGGGAGAAATGTGAGCCGAAACATGGA AGATAGCAGTGAATGGGATCTGGGGAGAAGTGAATGAAGGGGTGACTCTA GGTACAGGAGTGGCCACATCACAAGCCCTAAGGTGACATGAGGAACAGAA AGAAGAGTTAGAGAGGAACAGAGAGGTGGTGGGGGTGGATCTTGTCAGTG GTGTGCTAGTAAATGTTCAAACAGCTCTCAGCGGGGTAGGGGGAAGGCAC TGGTTTGTAGCATTTGCCAGTTTCCATGGTGTAAATACTTCCATGGAGGT CAGTTTCAAGTTGTTGATGTGCTGTCGTTGAACCTGGAACGTGGAGTCAG GAAGTGATGTACACAGTGGGCTTTTGTGAGCCGGGAGGTCACTCCAGCAC ACCATCGCATCTTAGGATTTGTGCTTTTACAAAGGAACGCAGTGCCTGGC ACGCAGCAGGCCAGGACAGGGCCTCTCTGATTTTGGGTTAGTTTCCAAGT CTGGGGACCTTCTTTATAGCTTCTTCCTGTGTCTACTCATGGGCCAAAAG AAAATTCTATGAGGTTTCAACTCCTCTATCAAAGGATAGGTAACCATAAG GAAGCCTAGAACCCTTGTTATATGTAAGGGCTATTCCAGGAGCATGGATT ATTCCATTTCTTTCTTTCTTTTTTTTTCCAGGAAAGAGATATAAACTCCC TCTACGACGTCAGCAGAATGTATGTGGATCCCAGTGAAATCAATCCGTCC ATGGTACGGTGCCGAACCTCCAATTCACATGATTTTGGAGTCACGAGGCT GATGTGGATTCCATCTTGTTCCCATGGCAGTTATAACAGGGCAAGGGAAG ACTTTGGAAAACCTGGCCAAAATAATTTTTTTTTTTTTTTGAGAAGAAAG GATGATTGATAATATCAAGCCTAGTTTCAGGGAAAATGTTAATAGAATTC CATCCAAATGCAACAGTGTTTTGCTAAAATTCTGAGGTTTGACGAACCAC CTTTGGGCCAAATGGCTTCTAATGAAAAGTCTTTCAAATGTTTTTGGCTC GCTGACAGAGCCTGTGGTGTTTATAAATTCCATTTGGTTCACTGACCTCC TTGCAGTGCAAATGCTATCTCATATTCCCACCCTGACTCTGTTGTGTAAT TTCATGCAGGTAGGGATGGATTTTACTTTCAGCCCTCGGCTCCTCCTTGC CATGCTTTCATCTCAAATTTAGTTTGAGCCGGCAGAGGAAGAACCACAGC GAATTTTCTGTTTGGGGGCCATGTGGCACACAATTAGTGTACAACGCTCA CTTAGGAAGGGGCCCTGCTTGTGGGCTCTGTTGAAATCCAGAGATGACTT TCTTTTTCAAAAATTTATAATCCATGGCCAATGCAGATCTGTTTCAGAAA GAAATGAAATCTTGAAAAGTTGTGGGCAAATTGAGCTGTGTGTGAAATGC ATTAAGAGACCTTAGTAGCAAAAACTTTTGTTAGTAGTGAAGGATGTTTT GGCGATGAGAACAGTCACCTCTCTAACTGATGACTTTTCCTTCCTGTGGC CTTGGAGACTGGCTGGTCCTTATATCCACCCTTGAAGCAGGATACGCAAG TAGAGGCTGCTCTGTTTGCAGGTGGGGGAGAGAAAGGCAAGGGTACTGCT TAGCCTCTGGCCTCCAGCTGCAGATCCCTGTGGCAGAGCTCCTAGAACCC ACATTGCTTCTTATGAAACATCATGCACTATGGCACTAACTCACATTGAT GGATCCAGTTCTGGGCTGAGCCACTTAAAACAGCTGGTCGATGTGGGGCA AATTACTTTCTCTCTCTGCATCTCAGTTTTCTCATCTGCAAAATGGGCAT ACTCATATAACTACTTACCTGTTATGGTTGCTTAAGGATTAAAGGAGATA CCTTAAGGCTTGGAATAATGCTTTAGCGATACTATAGTTAGCACTTAAGA AGTGCAAGCTGTTGTCAGTTTTATCATTATACACATGATCTCATTTAGTA GTCTTAACAACCCTGTGAAATATATAAAAATTTAATTCCCATTTCACAGA CGGGGGAACTGAGGATCAGAGAGACTCAAACTTATATCATTATTCAAGGG CAGAGCAATGATTTGAACCTACATATCTGACTCTGTAGCCTGTGTTCTGA GGAAAAATTTTACTAGGTTCCCTGTGAAATTCCTGTTCCCATTTCCTTTG GGTGGGAGGAGAAGGAAGCTGCTCATTTAAACAGGTTTGACAACGTCAGA GCTTTTCCCACTAACATTTGCTTGCCGTGTGGGTGTTCATTTATGCCCGC CAGGCAGAAAGCATGAAAGCAAATTCATTGAAGAAAATTTCTAACCAAGG AAGTTCTATCTTATTTAGTTCTGTGAACAGAGACCACCTTTTGATGAATT TCATGGAGGAGAAGCTCAGTTACTCTTGCAAAATGTCAGGGTCCTGCAGG AGTGTAGATAGGGGACTGCTGACCTACAAAAACAGAGCAATGAGGCCCTC AGGACAGGCAGGAAGAATGGGGTTGCCCTTGAGCTTCTGGGAGGCTTGCT GAGCACCGGCACTGTGATGACAGTCTTGGCTTAATCTAAAAGGCATGTCC TTTCTTTGTTGAGGAAATTGAGCAATATTGTGTCACTACAATATAGGGTC ACTCCCACCCTAACCCTAAGCCTAACCCTAACCCCAGCGCTAAACCCTAG CCCCAAACCCTAACTCCTAACCCCTAACCCTTAACCCCAACCCAGGTACC CTTGGCTCTGACTAGGCCAGTTCTCCTTCACTCCCTGGTGGCTTTTTGGG GCCTTCGATCCTTTGCAATGCCAGTCCCTCTCCAGCAGATGACTTTGTAA CCTTGGCCTGAAGCCTCCTGCTCCCCAATGAGAAGAACCAAATGGTACCT GGGAACGCAGCCGCCTCCCTCCCCTCCTGTCCCTGGCCTGACCTTTTCCT TCTTGTTTTCCCTGAAAGCCTCAGAGAACCGTGAAAGCTCTGTATGACTA CAAAGCCAAGCGAAGCGATGAGCTGAGCTTCTGCCGTGGTGCCCTCATCC ACAATGTCTCCAAGGAGCCCGGGGGCTGGTAAGGCTGAGTGGAGGCTGGG CTGCTCGGCAGGTGGGCTTGACTTGTCCCTTCTTGGTGATAAGACTCAGG TGCTGGCCAAGTCTGACCCCCTTTGTCATCCTGGGCTGGCTTTGACCTCT TGTGTTAAGTCCCTTCTTAGGAAGGTGGCTTGGTGCATGCTCTATTTGAG AAAATGGATAAACAACAATATTAACAGGTATCGACATATCATATCATATA TTGTATATTATTATAATTACAACAGCAGCTACCATTTATTGAAGTCTTTC TAAGTGGCAAGCAGTCTGCTAATTGCTTTCCATGCATTGTCTAACCAAAT CTTCAACCAAATCTTCATTACTCCCTGTGACAAAAGATGCGGCAAATGAG ACTTTCCAAGTCACACAAATAAATACTAAATACTAAATAGTGCAGGCGCT TTCCAATACACAAGACTGTGTGTTATTTCCAATTCAAATTCGTATGCTGT TCCATAGTCCCGTGCTGTGTGCAATGGCCACATCCTGAATTGAAGACAAT ACGTTTTTCGTGCAAAGGTACCTGGGTATGCTAGGGTTTAGTTACCACTT CGCTTTTTAACCTTAGAAGAAAAATTCACTGCCCACTGATAGGTTTCTGG GGAAGTGGTTTTGTGGGGTGACTTCTGTCTGAGAGCAATAAGAACTTGCT CATAATAGTGAGCACTGGTTTAAGCACCTCATAGACTGGCATTTCTGCCT CCCACAAGATAACTGGACCTGGCTTAGGAATCTGAATAGCAGCATGCATG GAGTGCTTCTATGTGTCAAGCACTGTTTTAAGCACGTTTGAAATAACTCA CTTCATTTGAAATAACTGAGTCTACATGATGACTGTAAAAGGTTGGTTCT GTTGTTACCTGCATTTTACCGATGAGGAAACTGAAGCCTTCAGAAGTGCA GTCACTTGTCCAGGGCCACATAGCAGGCTGAGATTTGAACCGCCAGGCCT TTTGACTCCAGAGCTTACACTCTTAACTCCATTCATCTGCTAAGTCCTTC CCTGTCCTCTTGCAAGATGCCTTAATCCAGGGATTATCAAACTTTTTCTT AAAATCAGGAGAACCTCATTGCAAACCAATTCATACCTAGATTCCACAGA ATCAAAGATGCAGCCGAGTTACCCATTGAGCTGGAGTGGGGGCGTAGAAT TGCCCTGTTTGGCCTCCTTGCTGACATTGCTGTTCCTACTGCAGCCTCTG ATGCTTCCCCTTGGAGGCTCCCAGACCCAGTTGGGCAACCACAGTGTTGT CCGTCTGCTTCTCCCAGTTCAGAGGCTCGGCTTTGCCGAAGTCCCTCCAC TCGAAGTGGCACAGAGTTGAGGTCTCTTCCAGGCACACTGGCGTTCCCTC ACTGGGCTCCTGTCCCTGCCTTGGTCAACATCCTGGTGCGCACTGGGTGG GTGACTAACAACATTTTTGGAGTTGTGGCTGGAGCCCAGGTGACTACTCC AAATCACGGTTTTCCATTCTGTGTGAGATGGCCTCATGCCTTTCTATGCC TCTGACAGGCAGTTCTCTGAATTTCGAAGGCTCTTGTCTTAAGAGACTGT CAGAAGTCCCTTTGGCAAGGGACTGTGGGCAAACCGCCCAGCGGCTGTGG TCAATTCCTCTCTCTGATGGCAGTAGTGCTACCTAGGGGGCCGCCTGGGT GAAACCGGCTTTTTTGCATACTTCCAAACTGGTTCCCTGTAGCTAGGGGA CCAAACAATTATTGTCTGAACCAAGATGCTCCTGAGAGTGAAGAGAATGT AAAGTGCTCAGTCCTGGACAGATGGTATATATGATCGCCGTAAATACAGC CAGCCCTTGCCAGAAGTGGGTCTGGAGAAATGGTGCGGGGGGGCGTGAAA AGGGCTTACAACCCGCAGTCCTGTGTCTCTGCTAGGTGAATTGGTAGCAT CAGTCCTCACTCTGCTTATTCAGACCAAAAAATTGTTAAGTTCTTCCCAC CACCACGGAGCACAGACTTGATTAAGATCCAGAAAGGTCAGCCGGGTGCA GTGACTTGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCT CACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCTGGTAAAACCCT GTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCCCATGCCATA ATCCCAGCTACTGGCGGGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAG GCGAAGGTTGCAGTGAGCTGAGATCGTGCCATGCACTCCAGCCTGGGGGA CAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATCCAGAAGGATA TCATATAGAGGGGAAGACAGATGTATAATTATACGTTAAGTATAAGATGT GGCTGCTTGGATGACTGTGGGGACAGGATGCCAGGGGACCACAGAGGAAG AGTGCTCAGCCTAGGGGGCAGTCAGGGAAGACTCCGTGGGAGAGGAAATG CCCAAGCTGAGTCTTAAATTAGTGGGGGGAAGTTGGGTACCAAGGGCATG GGCCAAGGCATGGAAGCTAGGCAGCATGGCAGGGGCATGATAGGGACGAC GGGCCAGCTGGAGTCAACATCATGGAGAGTTAGGAGGTGATGTCTGGGAG TCCTGGGGTCAGACTGTGCTGGGCCGTGGCTGCCATGTTGAAGAGTCTGG GCTGGATTCTGGAGGCCCTGGGGAGC Not classified UNKNOWN YES Unknown In frame deletion/insertion Sequencing Sanger Symptomatic PLAID Unknown Unknown United states/Caucasian This mutation includes part of intron 19, all of exon 20, all of intron 20, all of exon 21, all of intron 21, all of exon 22, and part of intron 22. 2015-10-01 Publication (PubMed PMID): 22236196 Exon 20 S707P p.(Ser707Pro) c.2119T>C substitution 1 T>C Likely pathogenic YES NO Sequencing NGS Symptomatic PLCG2-AID (APLAID) Heterozygous De novo Taiwan, province of china/Asian 2022-02-21 Publication (PubMed PMID): 34768012 Exon 20 S707Y p.(Ser707Tyr) c.2120C>A substitution 1 C>A Likely pathogenic UNKNOWN YES Unknown Altered regulation Sequencing Sanger Symptomatic PLCG2-AID (APLAID) Unknown Unknown United states/Caucasian 2012-12-07 Publication (PubMed PMID): 23000145 36997670 Exon 20 A708P p.(Ala708Pro) c.2122G>C substitution 1 G>C Pathogenic YES YES Culture studies Altered regulation Sequencing Sanger Sequencing NGS Symptomatic PLCG2-AID (APLAID) Unknown Unknown / 2020-08-28 Publication (PubMed PMID): 32671674 Exon 20 E721K p.(Glu721Lys) c.2161G>A substitution 1 G>A Uncertain significance (VUS) NO NO Sequencing Sanger Symptomatic Undefined-AID Unknown Unknown Japan/Asian 2019-07-11 Publication (PubMed PMID): 27332769 Exon 20 R742C p.(Arg742Cys) c.2224C>T substitution 1 C>T Uncertain significance (VUS) YES UNKNOWN Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/Caucasian 2022-06-29 Granel J Rittore C Sabbagh Q Boursier G Personal communication Exon 22 N798S p.(Asn798Ser) c.2393A>G substitution 1 A>G Not classified UNKNOWN NO Sequencing NGS Unknown PLCG2-AID (APLAID) Unknown Unknown / identified in a patient with 2 pathogenic mutations in ADA2. Subsequently, PMID: 33815380 reported two unrelated patients who carry this variant and clinical manifestations consistent with APLAID. Both patients died. 2019-05-13 Publication (PubMed PMID): 30783801 Exon 23 E833K p.(Glu833Lys) c.2497G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing Sanger Symptomatic Recurrent Fever Perimyokarditis, Pleuritis, Fever, Dermatitis, Colchicine and Steroid sensitive Unknown Unknown Germany/Caucasian 2017-02-08 Blank N Personal communication Exon 24 L845_L848del p.(Leu845_Leu848del) c.2533_2544del deletion 12 TTAGGGTCTCTT Pathogenic YES YES Culture studies Altered regulation Sequencing Sanger Sequencing NGS Symptomatic PLCG2-AID (APLAID) Unknown Unknown Spain/Caucasian 2020-08-28 Publication (PubMed PMID): 32671674 Exon 24 L848P p.(Leu848Pro) c.2543T>C substitution 1 T>C Not classified UNKNOWN YES Unknown Affects the PLC?2 structure. Leads to the increased basal and EGF-stimulated PLC?2 activity in vitro. Reduced production of IFN-? and IL-17 in response to polyclonal T-cell stimulation and reduced production of IL-10 and IL-1? after LPS stimulation. Sequencing Sanger Sequencing NGS Symptomatic PLCG2-AID (APLAID) Unknown Unknown Portugal/Caucasian 2019-01-10 Publication (PubMed PMID): 30619256 31465591 Exon 27 R956C p.(Arg956Cys) c.2866C>T substitution 1 C>T Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic CVID Unknown Unknown / This patient is a 40-year-old male with idiopathic thrombocytopenia in childhood and severe pneumococcal meningitis at the age of 34 years. The pathogenicity of this variant is not confirmed by functional analysis. 2020-04-02 Publication (PubMed PMID): 32047491 Exon 27 T983I p.(Thr983Ile) c.2948C>T substitution 1 C>T Not classified NO NO Sequencing NGS Symptomatic Hidradenitis suppurativa Unknown Unknown Armenia/Mediterranean 2021-01-11 Publication (PubMed PMID): 33029352 Exon 27 L1012V p.(Leu1012Val) c.3034C>G substitution 1 C>G Uncertain significance (VUS) YES YES Culture studies Altered regulation Sequencing NGS Symptomatic PLCG2-AID (APLAID) Heterozygous Unknown Japan/Asian 2023-05-03 Publication (PubMed PMID): 37094224 Exon 29 C1082R p.(Cys1082Arg) c.3244T>C substitution 1 T>C Not classified YES NO Sequencing Sanger Sequencing NGS Symptomatic PLCG2-AID (APLAID) Unknown Unknown China/Asian 2021-01-11 Publication (PubMed PMID): 33042144 Exon 30 A1130S p.(Ala1130Ser) c.3388G>T substitution 1 G>T Uncertain significance (VUS) YES NO Sequencing Sanger Sequencing NGS Symptomatic PLCG2-AID (APLAID) Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 30 M1141K p.(Met1141Lys) c.3422T>A substitution 1 T>A Likely pathogenic UNKNOWN YES Cell free system Culture studies Altered regulation Sequencing NGS Symptomatic PLCG2-AID (APLAID) Heterozygous Inherited from a symptomatic parent / 2022-08-10 Publication (PubMed PMID): 31853824 Exon 31 I1175K p.(Ile1175Lys) c.3524T>A substitution 1 T>A Not classified YES NO Sequencing Sanger Sequencing NGS Symptomatic PLCG2-AID (APLAID) Unknown Unknown China/Asian 2021-01-11 Publication (PubMed PMID): 33042144 3UT *35T>C p.? c.*35T>C substitution 1 T>C Not classified UNKNOWN NO Sequencing NGS Unknown MKD-mild (HIDS) Unknown Unknown / Associated to 2 pathogenic mutations in MVK 2019-05-13 Publication (PubMed PMID): 30783801