Table 2

Clinical phenotype and genetic variants in 42 patients

Case numberClinical phenotypeVariant classificationGeneGene categoryVariantZygosity
CDEIMNRepResU
P/LP variants
 P006+++++P NOTCH1 MultipleNM_017617:exon26:c.4587–1G>AHet
 P051++++P MAGEL2 MultipleNM_019066:exon1:c.1912C>T(p.Q638X)Het
 P076++++++P CYBB Allergic/immunological/infectiousNM_000397:exon9:c.1139G>A(p.W380X)Hemi
 P080++++P SLC25A20 Metabolic/biochemicalNM_000387:exon3:c.270delCHet
 P080++++P SLC25A20 Metabolic/biochemicalNM_000387:exon3:c.199–10T>GHet
 P081++++P SLC25A20 Metabolical/biochemicalNM_000387:exon3:c.270delCHet
 P081++++P SLC25A20 Metabolical/biochemicalNM_000387:exon3:c.199–10T>GHet
 P102+++++++P TCIRG1 SkeletalNM_006019:exon16:c.2008C>T(p.R670X)Het
 P102+++++++P TCIRG1 SkeletalNM_006019:exon10:c.1114C>T(p.Q372X)Het
 P105++P MTM1 NeurologicNM_000252:exon13:c.1446_1447delTGHemi
 P118+++++P STXBP2 HaematologicalNM_006949:exon5:c.295_321del27Het
 P118+++++P STXBP2 HaematologicalNM_006949:exon16:c.1432delGHet
 P119++++++P STXBP2 HaematologicalNM_006949:exon5:c.295_321del27Het
 P119++++++P STXBP2 HaematologicalNM_006949:exon16:c.1432delGHet
 P123+++++P CPT2 Metabolical/biochemicalNM_000098:exon4:c.764A>G(p.D255G)Het
 P123+++++P CPT2 Metabolical/biochemicalNM_000098:exon4:c.1033G>A(p.G345R)Het
 P134++++P NFU1 Metabolical/biochemicalNM_001002755:exon6:c.544C>T(p.R182W)Het
 P134++++P NFU1 Metabolical/biochemicalNM_001002755:exon5:c.482C>T(p.A161V)Het
 P148+++++P CHD7 MultipleNM_017780:exon11:c.2957+5G>AHet
 P153++++P ITGB4 DermatologicalNM_001005731:exon30:c.3719G>A(p.W1240X)Het
 P153++++P ITGB4 DermatologicalNM_001005731:exon33:c.4291_4292delGTHet
 P164++++P OPLAH Metabolical/biochemicalNM_017570:exon28:c.3853C>T(p.Q1285X)Het
 P164++++P OPLAH Metabolical/biochemicalNM_017570:exon23:c.3303+1G>CHet
 P168+++++P MUT Metabolical/biochemicalNM_000255:exon3:c.626dupC(p.K210X)Het
 P168+++++P MUT Metabolical/biochemicalNM_000255:exon4:c.787G>A(p.G263R)Het
 P170+++++++P IL10RA Allergic/immunological/infectiousNM_001558:exon3:c.301C>T(p.R101W)Hom
 P174++++P ACTA1 NeurologicalNM_001100:exon4:c.553C>T(p.R185C)Het
 P182+++++P MUT Metabolical/biochemicalNM_000255:exon10:c.1679G>A(p.C560Y)Het
 P182+++++P MUT Metabolical/biochemicalNM_000255:exon3:c.729insTT(p.D244Lfs*39)Het
 P220+++P FGFR2 SkeletalNM_000141:exon8:c.1040C>G(p.S347C)Het
 P090+++LP PHOX2B NeurologicalNM_003924:exon3:c.756_776dup21(GCN)27Het
 P137++++++LP SHOC2 MultipleNM_007373:exon2:c.4A>G(p.S2G)Het
VUSs
 P085+++VUS GDF1 CardiovascularNM_001492:exon8:c.382A>C(p.T128P)Het
 P093+++++++VUS ANKRD11 MultipleNM_013275:exon9:c.4196C>A(p.A1399E)Het
 P096++++++VUS MYH9 MultipleNM_002473:exon20:c.2449G>T(p.A817S)Het
 P116+++VUS CHD7 MultipleNM_017780:exon38:c.8639C>T(p.P2880L)Het
 P124+++VUS ASXL3 MultipleNM_030632:exon11:c.1333C>T(p.P445S)Het
 P132+++++VUS OCA2*DermatologicalNM_000275:exon21:c.2207C>T(p.S736L)Hom
 P133++++VUS KDM6A MultipleNM_021140:exon28:c.4079A>G(p.D1360G)Het
 P135+++VUS ACY1 MultipleNM_000666:exon15:c.1063–1G>AHom
 P150++++VUS SERPINC1 HaematologicalNM_000488:exon4:c.679G>A(p.E227K)Het
 P155+++++VUS SAMD9 MultipleNM_017654:exon3:c.1030C>T(p.R344X)Het
 P160+++VUS MTFMT Metabolical/biochemicalNM_139242:exon3:c.479T>C(p.I160T)Het
 P160+++VUS MTFMT Metabolical/biochemicalNM_139242:exon9:c.1094G>A(p.C365Y)Het
 P161++++VUS MEGF10 NeurologicNM_032446:exon7:c.452G>A(p.R151Q)Het
 P161++++VUS MEGF10 NeurologicNM_032446:exon14:c.1673G>T(p.R558L)Het
 P169+++++VUS ADAMTS13 HaematologicalNM_139025:exon26:c.3619G>A(p.G1207S)Het
 P169+++++VUS ADAMTS13 HaematologicalNM_139025:exon1:c.10C>T(p.R4C)Het
 P179++++VUS CYBB Allergic/immunological/infectiousNM_000397:exon10:c.1294A>C(p.T432P)Hemi
 P185+++VUS F11 HaematologicalNM_000128.3: c.1858_1859delinsAG (p.E620R)Het
 P185+++VUS VWF HaematologicalNM_000552:exon28:c.4439C>T(p.P1480L)Het
 P185+++VUS VWF HaematologicalNM_000552:exon16:c.2024C>T(p.P675L)Het
 P189++++VUS MYO5B*DigestiveNM_001080467:exon9:c.1021C>T(p.Q341X)Het
 P189++++VUS MYO5B DigestiveNM_001080467:exon13:c.1625G>A(p.R542H)Het
 P189++++VUS MYO5B DigestiveNM_001080467:exon10:c.1165G>T(p.V389F)Het
 P192+++VUS SCN5A*CardiovascularNM_198056:exon15:c.2275A>T(p.I759F)Het
 P207+++VUS F12 HaematologicalNM_000505:exon12:c.1495C>G(p.L499V)Het
 P219++VUS CREBBP MultipleNM_004380:exon15:c.2911A>G(p.R971G)Het
 P221+++++VUS KAT6B SkeletalNM_012330:exon3:c.548G>T(p.G183V)Het
 P222+++VUS EP300 MultipleNM_001429:exon31:c.6466C>T(p.P2156S)Het
  • Clinical phenotype

  • *Potentially pathogenic.

  • C, circulatory system; D, digestive system; E, endocrine system; I, immune system; M, motor system; N, nervous system; Rep, reproductive system; Res, respiratory system;U, urinary system; VUS, variants with unknown significance.