1. Name: nsv529083 AND Cleft palate, isolated Gene(s): DUSP22 Phenotype: Cleft palate, isolated Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):259528-339802 Accession: RCV000050415.1 ID: 2183501 2. Name: nsv532151 AND Cleft upper lip Gene(s): EYS Phenotype: Cleft upper lip Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):65155808-66302808 Accession: RCV000053471.2 ID: 2189614 3. Name: nsv529803 AND Facial cleft Gene(s): IGSF6, METTL9, OTOA Phenotype: Facial cleft Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):21612313-21752009 Accession: RCV000051264.2 ID: 2185200 4. Name: nsv529479 AND Cleft palate, isolated Gene(s): BMP2, PLCB1, HAO1, TMX4 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 20 Location (GRCh38):6317254-8558193 Accession: RCV000050903.2 ID: 2184477 5. Name: nsv491621 AND Cleft upper lip Gene(s): GTF2H2, NAIP, SMN1, SERF1A Phenotype: Cleft upper lip Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):69732192-70587018 Accession: RCV000050270.1 ID: 2183211 6. Name: nsv531579 AND Cleft palate, isolated Gene(s): ADARB1, COL6A1, COL6A2, PRMT2, LSS, PCNT, S100B, SLC19A1, MCM3AP, FTCD, DIP2A, POFUT2, PCBP3, C21orf58, YBEY, COL18A1, SPATC1L Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 21 Location (GRCh38):46558236-48090317 Accession: RCV000052865.1 ID: 2436929 7. Name: nsv529532 AND Cleft palate, isolated Gene(s): NUDT1, MAD1L1, EIF3B, SNX8, FTSJ2, CHST12 Phenotype: Cleft palate, isolated Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):2149076-2452186 Accession: RCV000050962.1 ID: 2184596 8. Name: nsv532930 AND Cleft upper lip Gene(s): CDH17, GEM, CCNE2, RAD54B, , PDP1, ESRP1, INTS8, PLEKHF2, TMEM67, TP53INP1, FAM92A1, NDUFAF6, C8orf37, TRIQK, DPY19L4, C8orf87, RBM12B, FSBP Phenotype: Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):93295407-96798671 Accession: RCV000054265.2 ID: 2191203 9. Name: nsv529888 AND Cleft palate, isolated Gene(s): CSF2RB, IL2RB, LGALS2, MFNG, MPST, NCF4, PVALB, RAC2, SSTR3, TST, CACNG2, IFT27, CDC42EP1, SH3BP1, GGA1, CYTH4, CARD10, PDXP, KCTD17, ELFN2, C1QTNF6, TMPRSS6, TEX33 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):36948423-38065922 Accession: RCV000051365.1 ID: 2185402 10. Name: nsv497981 AND Cleft palate, isolated Gene(s): CSNK2A1, FKBP1A, SOX12, TCF15, PSMF1, SNPH, SIRPB1, RBCK1, SDCBP2, ANGPT4, TMEM74B, SIRPG, NSFL1C, TRIB3, NRSN2, DEFB126, FAM110A, ZCCHC3, SCRT2, SLC52A3, TBC1D20, SIRPD, C20orf96, SRXN1, DEFB127, DEFB129, DEFB125, DEFB128, SIRPB2, RSPO4, DEFB132, C20orf202, RAD21L1 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 20 Location (GRCh38):70580-1833123 Accession: RCV000050373.1 ID: 2183417 11. Name: nsv531515 AND Bilateral cleft palate Gene(s): APP, ATP5J, CXADR, GABPA, NCAM2, TMPRSS15, HSPA13, NRIP1, ADAMTS1, RWDD2B, USP16, CCT8, BTG3, ADAMTS5, LTN1, N6AMT1, USP25, RBM11, MRPL39, C21orf91, MAP3K7CL, JAM2, SAMSN1, CYYR1, CHODL, LIPI, ABCC13, POTED, MIRLET7C, MIR125B2, MIR155, MIR99A Phenotype: Bilateral cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 21 Location (GRCh38):14566666-30629529 Accession: RCV000052798.1 ID: 2436902 12. Name: nsv529050 AND Cleft palate, isolated Gene(s): CLDN4, CLDN3, ELN, GPER1, GTF2I, LIMK1, RFC2, STX1A, EIF4H, CLIP2, LAT2, MAFK, FZD9, MAD1L1, FKBP6, BAZ1B, BCL7B, GTF2IRD1, ADAP1, SUN1, INTS1, TBL2, MLXIPL, GET4, CYP2W1, MICALL2, ABHD11, PSMG3, DNAJC30, C7orf50, ZFAND2A, COX19, WBSCR22, GPR146, WBSCR28, WBSCR27, VPS37D, LINC00035, TMEM184A, UNCX, ELFN1, MIR590 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):72766313-74133332 Accession: RCV000050384.1 ID: 2435731 13. Name: nsv530197 AND Cleft palate, isolated Gene(s): ADD1, ADRA2C, ATP5I, CTBP1, DGKQ, FGFR3, GAK, GRK4, HTT, HGFAC, IDUA, LETM1, LRPAP1, MSX1, MYL5, PDE6B, RGS12, RNF4, SH3BP2, WHSC1, NELFA, ZNF141, SLBP, NOP14, FAM193A, MFSD10, MAEA, PCGF3, SPON2, TACC3, MXD4, CPLX1, SLC26A1, NSG1, STX18, FGFRL1, CYTL1, NKX1-1, PIGG, STK32B, LYAR, UVSSA, ZFYVE28, TNIP2, HAUS3, MFSD7, TMEM175, TMEM128, TMEM129, OTOP1, ZNF595, FAM53A, ZBTB49, ZNF721, ZNF718, CRIPAK, DOK7, RNF212, NAT8L, MSANTD1, POLN, C4orf48, ZNF732 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):72447-5214111 Accession: RCV000051677.1 ID: 2436312 14. Name: nsv532907 AND multiple conditions Gene(s): ANK1 Phenotype: Cleft uvula, Nonsyndromic microcephaly, Global developmental delay, Muscular hypotonia, Abnormality of the heart, Short stature, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):41548242-41724964 Accession: RCV000054239.1 ID: 2191151 15. Name: nsv531520 AND multiple conditions Gene(s): NCAM2 Phenotype: Cleft palate, isolated, Global developmental delay, Short stature, Overgrowth, Abnormality of the skeletal system Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 21 Location (GRCh38):21699837-26771050 Accession: RCV000052803.2 ID: 2188278 16. Name: nsv530639 AND multiple conditions Gene(s): MIPOL1 Phenotype: Cleft palate, isolated, Abnormal facial shape Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):37837079-37934746 Accession: RCV000051927.1 ID: 2186526 17. Name: nsv529216 AND multiple conditions Gene(s): DUSP22 Phenotype: Cleft palate, isolated, Cleft upper lip Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):259528-293493 Accession: RCV000050535.1 ID: 2183741 18. Name: nsv529913 AND multiple conditions Gene(s): ITM2A Phenotype: Global developmental delay, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: X Location (GRCh38):78605903-79090819 Accession: RCV000051389.2 ID: 2185450 19. Name: nsv532921 AND multiple conditions Gene(s): EYA1, MSC Phenotype: Cleft uvula, Nonsyndromic microcephaly, Global developmental delay, Muscular hypotonia, Abnormality of the heart, Short stature, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):72190850-72875060 Accession: RCV000054254.1 ID: 2437595 20. Name: nsv532739 AND multiple conditions Gene(s): MAD2L1, PDE5A Phenotype: Cleft palate, isolated, Global developmental delay, Short stature Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):120392824-121098103 Accession: RCV000054071.1 ID: 2190815 21. Name: nsv531581 AND multiple conditions Gene(s): PRODH, DGCR6 Phenotype: Cleft palate, isolated, Micrognathia, Scoliosis, Webbed neck, Abnormal facial shape, Abnormality of limb bone morphology, Flexion contracture, Vertical talus, Wide nasal bridge Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18890271-18999862 Accession: RCV000052867.2 ID: 2188406 22. Name: nsv531501 AND multiple conditions Gene(s): SNTG1, PXDNL Phenotype: Inguinal hernia, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):50367765-52583643 Accession: RCV000052784.1 ID: 2188240 23. Name: nsv532647 AND multiple conditions Gene(s): EPT1, DRC1, GPR113 Phenotype: Epicanthus, Intellectual functioning disability, Global developmental delay, Small chin, Almond-shaped palpebral fissure, Broad forehead, Cleft upper lip, Delayed speech and language development Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):26555839-26662525 Accession: RCV000053979.2 ID: 2546583 24. Name: nsv531436 AND multiple conditions Gene(s): IFRD1, ZNF277, TMEM168, C7orf60, LSMEM1 Phenotype: Laryngomalacia, Renal adysplasia, Cleft palate, isolated, Global developmental delay, Hypospadias, Abnormal facial shape Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):111856171-112585407 Accession: RCV000052719.2 ID: 2188110 25. Name: nsv530989 AND multiple conditions Gene(s): RAC1, CYTH3, USP42, FAM220A Phenotype: Intellectual functioning disability, Global developmental delay, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):6176729-6438197 Accession: RCV000052279.1 ID: 2546555 26. Name: nsv529787 AND multiple conditions Gene(s): CYFIP1, NIPA2, TUBGCP5, NIPA1 Phenotype: Global developmental delay, Short stature, Cleft upper lip, Convex nasal ridge, Narrow forehead, Seizure Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 15 Location (GRCh38):22779922-23313405 Accession: RCV000051249.1 ID: 2436126 27. Name: nsv530634 AND multiple conditions Gene(s): GPC5, MIR17, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, MIR17HG Phenotype: Ectodermal dysplasia, Cleft upper lip, Specific learning disability Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 13 Location (GRCh38):91626006-93749584 Accession: RCV000051922.2 ID: 2436459 28. Name: nsv529663 AND multiple conditions Gene(s): HMOX2, MGRN1, ZNF500, CDIP1, ROGDI, NUDT16L1, GLYR1, ANKS3, UBALD1, SEPT12, C16orf71, C16orf96, SMIM22 Phenotype: Cleft uvula, Robin sequence, Failure to thrive, Deeply set eye Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):4540464-4865781 Accession: RCV000051115.2 ID: 2184902 29. Name: nsv532843 AND multiple conditions Gene(s): AKR1D1, TRIM24, DGKI, ATP6V0A4, LUC7L2, ZC3HAV1, KIAA1549, CREB3L2, TTC26, ZC3HAV1L, SVOPL, CLEC2L, C7orf55, TMEM213, UBN2, KLRG2, C7orf55-LUC7L2 Phenotype: Cleft uvula, Nonsyndromic microcephaly, Global developmental delay, Muscular hypotonia, Abnormality of the heart, Short stature, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):137426486-139373631 Accession: RCV000054174.1 ID: 2191021 30. Name: nsv530003 AND multiple conditions Gene(s): OGG1, BRPF1, CAMK1, ARPC4, TADA3, TTLL3, SETD5, CIDEC, MTMR14, CRELD1, JAGN1, IL17RC, IL17RE, CPNE9, RPUSD3, PRRT3, LHFPL4, ARPC4-TTLL3 Phenotype: Polydactyly, Cleft palate, isolated, Global developmental delay, Abnormality of the heart, Short stature, Scoliosis, Intestinal malrotation, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):9435033-9997855 Accession: RCV000051481.1 ID: 2185634 31. Name: nsv531266 AND multiple conditions Gene(s): DYNC1I2, GAD1, HAT1, SLC25A12, TLK1, GORASP2, METTL8, CYBRD1, DCAF17, MYO3B, METAP1D, ERICH2, SP5 Phenotype: Nonsyndromic microcephaly, Global developmental delay, Seizures, Short stature, Failure to thrive, Intrauterine growth retardation, Abnormal facial shape, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):171300729-172914965 Accession: RCV000052553.1 ID: 2436823 32. Name: nsv530734 AND multiple conditions Gene(s): AFG3L1P, C16orf3, FANCA, GAS8, MC1R, TUBB3, PRDM7, TCF25, DEF8, DBNDD1, SPIRE2, CENPBD1, ZNF276 Phenotype: Global developmental delay, Muscular hypotonia, Abnormality of the heart, Tracheomalacia, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):89796494-90148393 Accession: RCV000052022.1 ID: 2186716 33. Name: nsv531746 AND multiple conditions Gene(s): CRKL, SERPIND1, PI4KA, SLC7A4, ZNF74, LZTR1, P2RX6, SNAP29, MED15, THAP7, KLHL22, SCARF2, AIFM3, BCRP2 Phenotype: Nonsyndromic microcephaly, Global developmental delay, Abnormality of the heart, Abnormality of the diaphragm, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):20733427-21505417 Accession: RCV000053055.2 ID: 2437058 34. Name: nsv529489 AND multiple conditions Gene(s): OR5I1, OR5L2, OR8J3, OR4P4, OR4C15, TRIM51, OR8I2, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, OR10AG1, OR5J2, OR9G4, OR5F1, OR5AP2, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2 Phenotype: Cleft palate, isolated, Cleft upper lip Clinical Significance: Benign Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):55213165-56882257 Accession: RCV000050913.1 ID: 2184497 35. Name: nsv529066 AND multiple conditions Gene(s): ARVCF, COMT, CRKL, GP1BB, GSC2, SERPIND1, PI4KA, SEPT5, PRODH, RANBP1, SLC7A4, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, ZNF74, DVL1P1, LZTR1, CLTCL1, DGCR14, CDC45, P2RX6, SNAP29, DGCR2, TXNRD2, TSSK2, TRMT2A, ZDHHC8, MED15, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, THAP7, KLHL22, DGCR6L, RIMBP3, SCARF2, C22orf39, TANGO2, AIFM3, USP41, BCRP2, FAM230A, GGTLC3, TMEM191B Phenotype: Cleft palate, isolated, Hypospadias, Ventricular septal defect, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18919942-21505417 Accession: RCV000050390.1 ID: 2435737 36. Name: nsv532931 AND multiple conditions Gene(s): ALDOA, KIF22, MAZ, PPP4C, MAPK3, SPN, TBX6, DOC2A, HIRIP3, TAOK2, MVP, CDIPT, CORO1A, QPRT, SEZ6L2, GDPD3, PAGR1, YPEL3, FAM57B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, ZG16 Phenotype: Epicanthus, Intellectual functioning disability, Global developmental delay, Small chin, Almond-shaped palpebral fissure, Broad forehead, Cleft upper lip, Delayed speech and language development Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):29656684-30194753 Accession: RCV000054268.2 ID: 2546590 37. Name: nsv531717 AND multiple conditions Gene(s): ARVCF, COMT, GP1BB, GSC2, SEPT5, RANBP1, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, DVL1P1, CLTCL1, DGCR14, CDC45, DGCR2, TXNRD2, TSSK2, TRMT2A, ZDHHC8, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, C22orf39, TANGO2 Phenotype: Attention deficit-hyperactivity disorder, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18938161-20229017 Accession: RCV000053010.1 ID: 2437016 38. Name: nsv529813 AND multiple conditions Gene(s): ARVCF, COMT, CRKL, GP1BB, GSC2, SERPIND1, PI4KA, SEPT5, PRODH, RANBP1, SLC7A4, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, ZNF74, DGCR6, DVL1P1, LZTR1, CLTCL1, DGCR14, CDC45, P2RX6, SNAP29, DGCR2, TXNRD2, TSSK2, TRMT2A, ZDHHC8, MED15, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, THAP7, KLHL22, DGCR6L, RIMBP3, SCARF2, C22orf39, TANGO2, AIFM3, USP41, FAM230A, GGTLC3, TMEM191B Phenotype: Cleft palate, isolated, Global developmental delay, Abnormality of the heart, Short stature, Failure to thrive, Tracheomalacia, Intrauterine growth retardation, Abnormal facial shape, Spastic diplegia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18660553-21455556 Accession: RCV000051281.1 ID: 2436145 39. Name: nsv532017 AND multiple conditions Gene(s): AGRP, CA7, CBFB, CDH16, DYNC1LI2, E2F4, HSD11B2, HSF4, RRAD, SLC9A5, TRADD, CES2, NAE1, NOL3, ATP6V0D1, NUTF2, CTCF, CES3, PLEKHG4, LRRC29, TMEM208, FHOD1, ZDHHC1, PARD6A, FAM96B, TPPP3, LRRC36, FBXL8, TSNAXIP1, THAP11, PDP2, RANBP10, ACD, FAM65A, ELMO3, CENPT, C16orf70, GFOD2, ENKD1, B3GNT9, RLTPR, KCTD19, CMTM4, CCDC79, CES4A, EXOC3L1, C16orf86, MIR328, KIAA0895L Phenotype: Cleft palate, isolated, Nonsyndromic microcephaly, Global developmental delay, Short stature, Intrauterine growth retardation, Abnormal facial shape, Abnormality of limb bone morphology Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):66728083-67899348 Accession: RCV000053336.1 ID: 2437227 40. Name: nsv531419 AND multiple conditions Gene(s): AGXT, KIF1A, BOK, DTYMK, GPC1, GPR35, HDLBP, SEPT2, PDCD1, PPP1R7, FARP2, STK25, CAPN10, PASK, ATG4B, SNED1, ANO7, THAP4, ANKMY1, RNPEPL1, GAL3ST2, C2orf54, ING5, NEU4, MTERFD2, RTP5, DUSP28, AQP12A, MIR149, AQP12B, D2HGDH Phenotype: Muscular hypotonia, Failure to thrive, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):241384236-243028452 Accession: RCV000052703.1 ID: 2436881 41. Name: nsv532924 AND multiple conditions Gene(s): CA1, CA2, CA3, E2F5, FABP4, FABP5, HNF4G, IL7, IMPA1, PMP2, PKIA, PEX2, TCEB1, TPD52, STMN2, HEY1, LY96, MRPS28, PI15, ZC2HC1A, GDAP1, TMEM70, PAG1, JPH1, SNX16, ZBTB10, ZFAND1, ZFHX4, CRISPLD1, LRRCC1, CHMP4C, RALYL, SLC10A5, CA13, C8orf59, ZNF704, FABP9, FABP12 Phenotype: Global developmental delay, Muscular hypotonia, Short stature, Abnormality of the skeletal system, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):74791620-86523695 Accession: RCV000054259.1 ID: 2437600 42. Name: nsv531739 AND multiple conditions Gene(s): ARVCF, COMT, CRKL, GP1BB, GSC2, SERPIND1, PI4KA, SEPT5, RANBP1, SLC7A4, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, ZNF74, DVL1P1, LZTR1, CLTCL1, DGCR14, CDC45, P2RX6, SNAP29, DGCR2, TXNRD2, TSSK2, TRMT2A, ZDHHC8, MED15, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, THAP7, KLHL22, DGCR6L, RIMBP3, SCARF2, C22orf39, TANGO2, AIFM3, USP41, BCRP2, FAM230A, GGTLC3, TMEM191B Phenotype: Global developmental delay, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):19035017-21461811 Accession: RCV000053047.1 ID: 2437051 43. Name: nsv529812 AND multiple conditions Gene(s): ARVCF, COMT, CRKL, GP1BB, GSC2, SERPIND1, PI4KA, SEPT5, PRODH, RANBP1, SLC7A4, SLC25A1, TBX1, CLDN5, HIRA, UFD1L, ZNF74, DGCR6, DVL1P1, LZTR1, CLTCL1, DGCR14, CDC45, P2RX6, SNAP29, DGCR2, TXNRD2, USP18, TSSK2, TRMT2A, ZDHHC8, MED15, DGCR8, GNB1L, MRPL40, RTN4R, C22orf29, THAP7, KLHL22, DGCR6L, RIMBP3, SCARF2, C22orf39, TANGO2, AIFM3, USP41, FAM230A, GGTLC3, TMEM191B Phenotype: Intellectual functioning disability, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18650675-21455556 Accession: RCV000051275.1 ID: 2546542 44. Name: nsv530708 AND multiple conditions Gene(s): CDK11B, DFFB, DVL1, MEGF6, GABRD, GNB1, PEX10, PRKCZ, SCNN1D, SKI, TP73, TNFRSF4, MMP23B, MMP23A, TNFRSF14, TNFRSF18, ISG15, PLCH2, CEP104, SLC35E2, RER1, NOC2L, ARHGEF16, SSU72, WRAP73, SDF4, MXRA8, CPSF3L, C1orf159, AURKAIP1, MRPL20, ATAD3A, PANK4, LRRC47, HES4, PRDM16, VWA1, NADK, MMEL1, MORN1, GLTPD1, CCNL2, TAS1R3, ATAD3B, PLEKHN1, , ACAP3, UBE2J2, PUSL1, B3GALT6, TPRG1L, FAM213B, ACTRT2, MIB2, SAMD11, CCDC27, CALML6, C1orf86, ATAD3C, TTLL10, C1orf174, KLHL17, TMEM240, TMEM52, AGRN, FAM132A, HES5, SMIM1, RNF223, MIR200A, MIR200B, ANKRD65, MIR429, TMEM88B, C1orf233, MIR551A, CDK11A, SLC35E2B, TTC34 Phenotype: Global developmental delay, Abnormality of the heart, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):757093-4215734 Accession: RCV000051996.1 ID: 2436493 45. Name: nsv530707 AND multiple conditions Gene(s): CDK11B, DFFB, DVL1, MEGF6, GABRD, GNB1, ZBTB48, PEX10, PRKCZ, RPL22, SCNN1D, SKI, TP73, TNFRSF4, MMP23B, MMP23A, KCNAB2, TNFRSF25, TNFRSF14, TNFRSF18, ISG15, PLCH2, CEP104, KLHL21, SLC35E2, RER1, ACOT7, CAMTA1, ICMT, CHD5, NOC2L, ARHGEF16, SSU72, WRAP73, SDF4, MXRA8, HES2, CPSF3L, C1orf159, AURKAIP1, MRPL20, ATAD3A, PANK4, DNAJC11, AJAP1, PLEKHG5, LRRC47, HES4, PRDM16, VWA1, NADK, MMEL1, NOL9, MORN1, GLTPD1, TAS1R1, OR4F16, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, , THAP3, ACAP3, UBE2J2, PUSL1, B3GALT6, TPRG1L, FAM213B, ACTRT2, MIB2, SAMD11, PHF13, CCDC27, CALML6, C1orf86, ATAD3C, TTLL10, NPHP4, C1orf174, KLHL17, TMEM240, TMEM52, AGRN, GPR153, FAM132A, HES5, SMIM1, RNF207, HES3, RNF223, MIR200A, MIR200B, ANKRD65, MIR429, TMEM88B, C1orf233, MIR551A, CDK11A, SLC35E2B, TTC34 Phenotype: Nonsyndromic microcephaly, Global developmental delay, Abnormality of the heart, Short stature, Failure to thrive, Intrauterine growth retardation, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):564424-7068738 Accession: RCV000051995.1 ID: 2436492 46. Name: nsv531697 AND multiple conditions Gene(s): ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, FIGF, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, KAL1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, HDHD1, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, GPR64, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE1L, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, NGFRAP1, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, WBP5, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, MST4, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, , NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, ATXN3L, SLC38A5, MMGT1, ACRC, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, GPR112, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, SLC25A43, ZCCHC5, NRK, DDX26B, ZNF449, VMA21, TMEM31, PAGE2, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, ATP11C, H2BFM, YIPF6, CHDC2, FAM133A, MAGEB18, TMSB15B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, ZCCHC16, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, VCX3B, FTH1P18, GLRA4, FAM127C, CT45A3, CT45A4, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, CXorf30, MAGEB17, PABPC1L2B, XAGE1E, XAGE1B, CT47A7, SNORA11, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, SMIM9, CXorf49B, CXorf51B, CMC4, FTX, TRPC5OS, MTRNR2L10, HSFX1, CT47A12, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2 Phenotype: Global developmental delay, Short stature, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: X Location (GRCh38):76102-155226096 Accession: RCV000052986.1 ID: 2436996