1. Name: nsv529345 AND Cleft palate, isolated Gene(s): TCOF1 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):149745052-149761303 Accession: RCV000050738.1 ID: 2435869 2. Name: nsv532834 AND Cleft upper lip Gene(s): TSPAN7 Phenotype: Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: X Location (GRCh38):38491005-38628756 Accession: RCV000054166.2 ID: 2437533 3. Name: nsv529418 AND Cleft upper lip Gene(s): CRK, MYO1C, PITPNA, YWHAE, INPP5K, SLC43A2 Phenotype: Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):1271895-1492475 Accession: RCV000050827.1 ID: 2435916 4. Name: nsv532227 AND Cleft palate, isolated Gene(s): SVIL, BAMBI, WAC, ARMC4, , LYZL1, MPP7, C10orf126 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):28056899-30335014 Accession: RCV000053556.1 ID: 2189785 5. Name: nsv530620 AND Cleft palate, isolated Gene(s): PTPRJ, NUP160, FNBP4, OR4X2, OR4B1, OR4C3, OR4S1, OR4X1, OR4A47 Phenotype: Cleft palate, isolated Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):47765455-48664555 Accession: RCV000051907.1 ID: 2186486 6. Name: nsv492230 AND Cleft upper lip Gene(s): ABCC1, MYH11, NPIPA1, , PDXDC1, NOMO1, RRN3, NDE1, C16orf45, NTAN1, FOPNL, MPV17L, NPIPA5 Phenotype: Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):14968855-16127877 Accession: RCV000050367.1 ID: 2297854 7. Name: nsv529419 AND Cleft upper lip Gene(s): SAG, DGKD, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, USP40, DNAJB3 Phenotype: Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):234229606-234670426 Accession: RCV000050828.1 ID: 2184327 8. Name: nsv529877 AND Bilateral cleft lip and palate Gene(s): ABCC6, ABCC1, MYH11, PARN, PLA2G10, NPIPA1, , PDXDC1, NOMO1, BFAR, RRN3, NDE1, XYLT1, C16orf45, NTAN1, FOPNL, MPV17L, NOMO2, NOMO3, NPIPA3, NPIPA2, NPIPA5 Phenotype: Bilateral cleft lip and palate Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):14703504-18777139 Accession: RCV000051353.2 ID: 2297922 9. Name: nsv530632 AND Cleft upper lip 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, BCRP2, FAM230A, GGTLC3, TMEM191B Phenotype: Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):18705801-21561670 Accession: RCV000051920.2 ID: 2436458 10. Name: nsv532316 AND Cleft palate, isolated Gene(s): ASPH, CA8, CRH, CYP7A1, EYA1, HNF4G, IL7, MYBL1, PDE7A, PKIA, PEX2, RAB2A, RPL7, SDCBP, TCEB1, TERF1, TTPA, NSMAF, GGH, TRPA1, MSC, KCNB2, CYP7B1, MTFR1, TOX, NCOA2, ARFGEF1, COPS5, RRS1, SULF1, TRAM1, LY96, SGK3, STAU2, BHLHE22, PI15, ZC2HC1A, LACTB2, GDAP1, TMEM70, ARMC1, UBE2W, CHD7, C8orf44, JPH1, CPA6, PRDM14, ZFHX4, CSPP1, VCPIP1, PREX2, SLCO5A1, CRISPLD1, TRIM55, DNAJC5B, FAM110B, C8orf34, ADHFE1, UBXN2B, RDH10, MCMDC2, CLVS1, SBSPON, YTHDF3, C8orf46, NKAIN3, PPP1R42, XKR9, SNHG6, SNORD87, BTF3P12, TCF24, C8orf44-SGK3 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 8 Location (GRCh38):58273802-80082313 Accession: RCV000053653.1 ID: 2437350 11. Name: nsv531675 AND multiple conditions Gene(s): SATB2 Phenotype: Cleft uvula, Global developmental delay, Single transverse palmar crease Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):200174658-200268525 Accession: RCV000052962.1 ID: 2436976 12. Name: nsv532714 AND multiple conditions Gene(s): KCNJ2, KCNJ16 Phenotype: Cleft palate, isolated, Robin sequence, Autism Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):68090109-68705937 Accession: RCV000054046.2 ID: 2190765 13. Name: nsv530047 AND multiple conditions Gene(s): SNORD21, RPL5, FAM69A Phenotype: Cleft palate, isolated, Abnormal facial shape Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):93273425-93308213 Accession: RCV000051525.1 ID: 2185722 14. Name: nsv532257 AND multiple conditions Gene(s): FGFR2, ATE1 Phenotype: Talipes equinovarus, Global developmental delay, Short stature, Failure to thrive, Micrognathia, Abnormal facial shape, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):123267259-123629597 Accession: RCV000053590.2 ID: 2189853 15. Name: nsv529989 AND multiple conditions Gene(s): CAMP, CDC25A, MAP4, ZNF589 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: 3 Location (GRCh38):47909480-48301481 Accession: RCV000051467.2 ID: 2185606 16. Name: nsv532145 AND multiple conditions Gene(s): GTF2I, CLIP2, MAD1L1, GTF2IRD1 Phenotype: Talipes equinovarus, Cleft upper lip, Vertical talus Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):73809193-74139573 Accession: RCV000053463.2 ID: 2437279 17. Name: nsv531996 AND multiple conditions Gene(s): ADAMTS2, RUFY1 Phenotype: Duane's syndrome, Abnormality of the skeletal system, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):178669297-178989687 Accession: RCV000053316.1 ID: 2189304 18. Name: nsv532561 AND multiple conditions Gene(s): CHST6, GABARAPL2, ADAT1, CHST5, TMEM231 Phenotype: Global developmental delay, Abnormality of the heart, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):75519574-75636977 Accession: RCV000053894.1 ID: 2190461 19. Name: nsv531481 AND multiple conditions Gene(s): ENTPD6, PYGB, GINS1, NINL, ABHD12 Phenotype: Nonsyndromic microcephaly, Global developmental delay, Seizures, Short stature, Failure to thrive, Intrauterine growth retardation, Abnormal facial shape, Cleft upper lip, Seizure Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 20 Location (GRCh38):25080583-25448944 Accession: RCV000052765.1 ID: 2188202 20. Name: nsv530970 AND multiple conditions Gene(s): CCBL1, ENDOG, DOLK, NUP188, C9orf114, TBC1D13, LRRC8A, PHYHD1 Phenotype: Cleft palate, isolated, Seizure Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):131570824-131764386 Accession: RCV000052257.2 ID: 2187186 21. Name: nsv530089 AND multiple conditions Gene(s): EVC, MSX1, C4orf6, CYTL1, STK32B, EVC2 Phenotype: Corpus callosum agenesis, Nonsyndromic microcephaly, Global developmental delay, Abnormality of the heart, Hearing impairment, Abnormality of the diaphragm, Abnormal facial shape, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 4 Location (GRCh38):4793549-5812963 Accession: RCV000051566.1 ID: 2436258 22. Name: nsv532680 AND multiple conditions Gene(s): ASIC2, CCL1, CCL2, CCL7, CCL8, CCL11, CCL13 Phenotype: Hydrocephalus, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):31969714-32876230 Accession: RCV000054013.1 ID: 2190699 23. Name: nsv531972 AND multiple conditions Gene(s): DMXL1, HSD17B4, LOX, SNX2, SNCAIP, TNFAIP8, SNX24, PRR16, FTMT, ZNF474, SRFBP1, DTWD2, FAM170A Phenotype: Corpus callosum agenesis, Holoprosencephaly sequence, Global developmental delay, Heterotopia, Cleft upper lip, Peripheral neuropathy Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 5 Location (GRCh38):118190079-122185297 Accession: RCV000053291.2 ID: 2189254 24. Name: nsv529318 AND multiple conditions Gene(s): ACADSB, DMBT1, FGFR2, GRK5, HTRA1, RGS10, TIAL1, BAG3, TACC2, ATE1, SEC23IP, INPP5F, CUZD1, NSMCE4A, WDR11, PLEKHA1, IKZF5, MCMBP, C10orf88, BTBD16, FAM24A, PSTK, PPAPDC1A, FAM24B, ARMS2, C10orf120 Phenotype: Cleft palate, isolated, Short stature, Failure to thrive, Choanal atresia Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):121032524-124876906 Accession: RCV000050701.1 ID: 2184073 25. Name: nsv530170 AND multiple conditions Gene(s): CHUK, ABCC2, COX15, CPN1, GOT1, SCD, WNT8B, PKD2L1, ERLIN1, DNMBP, CNNM1, CUTC, CWF19L1, ENTPD7, SLC25A28, NKX2-3, BLOC1S2, SNORA12 Phenotype: Abnormality of the heart, Cleft upper lip Clinical Significance: Uncertain significance Review Status: classified by single submitter Chromosome: 10 Location (GRCh38):101093697-102235324 Accession: RCV000051647.1 ID: 2185966 26. Name: nsv532390 AND Bilateral cleft palate Gene(s): PARP4, ALOX5AP, ATP12A, CDK8, CDX2, FGF9, FLT1, FLT3, GJA3, GJB2, GPR12, GTF3A, HMGB1, PDX1, MIPEP, PABPC3, UBL3, RNF6, RPL21, SGCG, SLC7A1, TUBA3C, ZMYM2, IFT88, MTMR6, ZMYM5, NUPL1, USPL1, SAP18, GJB6, WASF3, MTUS2, SACS, LATS2, POLR1D, CRYL1, POMP, ATP8A2, IL17D, MPHOSPH8, PSPC1, TNFRSF19, CENPJ, RNF17, XPO4, MRPL57, KATNAL1, MEDAG, TPTE2, TEX26, AMER2, USP12, MTIF3, GSX1, N6AMT2, SKA3, MICU2, SPATA13, LNX2, ZDHHC20, PAN3, SLC46A3, C1QTNF9, RASL11A, C1QTNF9B, SHISA2, C1QTNF9B-AS1, URAD Phenotype: Bilateral cleft palate Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 13 Location (GRCh38):19532231-31664597 Accession: RCV000053729.1 ID: 2437393 27. Name: nsv531691 AND multiple conditions Gene(s): NDUFA10, PER2, HDAC4, RAMP1, TRAF3IP1, SCLY, ASB1, HES6, ILKAP, TWIST2, UBE2F, OTOS, MYEOV2, OR6B3, FAM132B, ESPNL, RBM44, KLHL30, OR6B2, PRR21 Phenotype: Muscular hypotonia, Failure to thrive, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 2 Location (GRCh38):238722640-241349904 Accession: RCV000052978.1 ID: 2436989 28. Name: nsv529490 AND multiple conditions Gene(s): ANG, APEX1, BCL2L2, CEBPE, DAD1, HNRNPC, MMP14, MYH6, MYH7, PNP, OXA1L, PSMB5, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, TRA, TEP1, TRNAL1, TRNAP1, TRNAP2, TRNAT2, PABPN1, SLC7A7, TOX4, PARP2, EFS, PRMT5, EDDM3A, SUPT16H, ACIN1, SLC7A8, LRP10, OR10G3, OR10G2, OR4E2, SLC39A2, ZNF219, SLC22A17, HAUS4, C14orf119, RBM23, OSGEP, ARHGEF40, METTL3, RPGRIP1, NDRG2, HOMEZ, CHD8, CCNB1IP1, C14orf93, ABHD4, EDDM3B, CDH24, METTL17, IL25, RNASE7, RAB2B, AJUBA, RPPH1, PPP1R3E, TMEM55B, TTC5, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR11H6, KLHL33, REM2, RNASE10, OR6S1, OR11G2, OR11H4, RNASE9, OR5AU1, MIR208A, RNASE13, RNASE12, TMEM253, MIR208B, PRMT5-AS1, C14orf164, BCL2L2-PABPN1 Phenotype: Cleft palate, isolated, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):20619308-23911404 Accession: RCV000050914.1 ID: 2435963 29. Name: nsv531007 AND multiple conditions Gene(s): SERPINA3, AKT1, BDKRB1, BDKRB2, SERPINA6, CHGA, CKB, CRIP1, CRIP2, DIO3, DYNC1H1, EIF5, EML1, BRF1, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, MARK3, ATXN3, NDUFB1, SERPINA5, SERPINA1, SERPINA4, PPP2R5C, LGMN, MOK, TNFAIP2, TRAF3, VRK1, WARS, XRCC3, YY1, TCL1A, DLK1, CCNK, MTA1, TRIP11, BAG5, C14orf2, CDC42BPB, TCL1B, TECPR2, GOLGA5, FBLN5, SIVA1, CYP46A1, PAPOLA, RCOR1, PACS2, PPP1R13B, DICER1, KIF26A, TMEM251, TCL6, IGHV3-23, IGHD3-3, GPR132, SERPINA10, GLRX5, EVL, GSKIP, CINP, ASB2, CPSF2, CDCA4, ATG2B, UBR7, MEG3, SMEK1, BTBD7, ZNF839, C14orf132, DDX24, UNC79, BEGAIN, PPP4R4, MOAP1, DIO3OS, INF2, BCL11B, OTUB2, ZFYVE21, MEG8, WDR25, CLMN, CATSPERB, RIN3, TMEM121, AMN, IFI27L2, SETD3, APOPT1, HHIPL1, C14orf142, FAM181A, BTBD6, EXOC3L4, WDR20, AHNAK2, TRMT61A, TDRD9, ANKRD9, AK7, IFI27L1, C14orf79, PLD4, ADSSL1, TC2N, SLC24A4, SLC25A29, DEGS2, GSC, SERPINA12, PRIMA1, SYNE3, NUDT14, SERPINA11, SNHG10, C14orf177, SLC25A47, CEP170B, C14orf80, CCDC85C, SERPINA9, COX8C, ASPG, RTL1, TMEM179, , C14orf180, MIR127, MIR134, MIR136, MIR203A, MIR376C, MIR369, MIR370, MIR376A1, MIR380, MIR433, MIR431, MIR409, MIR410, MIR376B, MIR495, RD3L, TEX22, MIR376A2, MIR487B, SNORD112, SNORD113-1, SNORD114-1, ZBTB42 Phenotype: Laryngeal cleft, Failure to thrive, Abnormal facial shape, Pyloric stenosis Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 14 Location (GRCh38):91922205-107240869 Accession: RCV000052296.1 ID: 2436612 30. Name: nsv529458 AND Cleft palate, isolated Gene(s): AOC1, AKR1B1, BPGM, BRAF, CALD1, CASP2, CDK5, CHRM2, CLCN1, CPA1, CPA2, EN2, EPHA1, EPHB6, EZH2, GBX1, MNX1, HTR5A, INSIG1, KCNH2, KEL, MEST, MKLN1, NDUFB2, NOS3, CNOT4, NRF1, PIP, PODXL, PRSS1, TAS2R38, PTN, PTPRN2, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, AKR1D1, SSBP1, TBXAS1, TRB, UBE2H, VIPR2, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, DGKI, ASIC3, PDIA4, UBE3C, FAM131B, FAM115A, DNAJB6, ABCF2, FASTK, ABCB8, PAXIP1, KLHDC10, SSPO, NUP205, AHCYL2, CLEC5A, MKRN1, CNTNAP2, GIMAP2, OR2F1, SLC13A4, COPG2, TPK1, DENND2A, ZNF777, TMEM176B, WDR91, REPIN1, ATP6V0A4, TAS2R3, TAS2R4, CPA4, PRKAG2, ZC3HC1, LUC7L2, MRPS33, NUB1, TAS2R5, CHPF2, NCAPG2, CHCHD3, WDR60, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ZC3HAV1, AKR1B10, ACTR3B, , STRIP2, ESYT2, ZNF398, KIAA1549, KMT2C, EXOC4, GALNT11, LMBR1, NOM1, PARP12, CREB3L2, LRRC61, C7orf49, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, SLC35B4, TMEM209, ADCK2, PLXNA4, ZC3HAV1L, CPA5, CEP41, ZBED6CL, TSGA13, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, KLF14, SSMEM1, SVOPL, MTPN, LRGUK, ASB10, PRSS58, RNF32, CLEC2L, C7orf55, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, GALNTL5, GIMAP7, ZNF467, GIMAP1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, CNPY1, FAM115C, ZNF775, ATG9B, MESTIT1, TAS2R60, CTAGE6, AGBL3, OR6V1, OR2A12, OR2A1, STRA8, KLRG2, WDR86, GSTK1, FAM180A, OR2A25, OR2A5, RAB19, OR2A7, OR2A42, MIR182, MIR183, MIR29A, MIR29B1, MIR96, AKR1B15, CTAGE15, OR2A2, MIR335, ARHGEF35, GIMAP6, WEE2, ZNF862, C7orf73, ACTR3C, LUZP6, MIR671, CTAGE4, LOC100134040, CTAGE8, SMKR1, ZNF783, MTRNR2L6, TMEM178B, C7orf55-LUC7L2 Phenotype: Cleft palate, isolated Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 7 Location (GRCh38):128950007-159075079 Accession: RCV000050876.1 ID: 2435938 31. Name: nsv530203 AND multiple conditions Gene(s): CSF2RB, H1F0, IL2RB, LGALS1, LGALS2, MFNG, MPST, MYH9, NCF4, POLR2F, PVALB, RAC2, SOX10, SSTR3, TST, GALR3, APOL1, EIF3D, CACNG2, IFT27, TRIOBP, CDC42EP1, GCAT, SH3BP1, APOL2, TXN2, GGA1, CYTH4, CARD10, EIF3L, PDXP, NOL12, KCTD17, FOXRED2, APOL4, APOL3, C22orf23, MICALL1, ELFN2, C1QTNF6, ANKRD54, TMPRSS6, TEX33, MIR659 Phenotype: Hearing impairment, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 22 Location (GRCh38):36464172-38398389 Accession: RCV000051683.1 ID: 2436318 32. Name: nsv530300 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, AJAP1, 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: Cleft palate, isolated, Global developmental delay, Abnormality of the heart Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 1 Location (GRCh38):728138-5066371 Accession: RCV000051779.1 ID: 2436381 33. Name: nsv531738 AND Cleft upper lip Gene(s): ADARB1, AIRE, APP, ATP5J, ATP5O, BACH1, PTTG1IP, C21orf2, TMEM50B, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, CRYAA, CSTB, CXADR, DSCAM, RCAN1, DYRK1A, ERG, ETS2, GABPA, GART, GRIK1, HLCS, HMGN1, PRMT2, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITGB2, KCNE1, KCNJ6, KCNJ15, LSS, MX1, MX2, NCAM2, NDUFV3, PCNT, PCP4, PDE9A, PFKL, PKNOX1, TMPRSS15, PWP2, S100B, SH3BGR, ITSN1, SIM2, SLC5A3, SLC19A1, SUMO3, SOD1, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, TRAPPC10, TMPRSS2, TRPM2, TTC3, U2AF1, UBE2G2, WRB, NRIP1, CHAF1B, C21orf33, PDXK, RRP1, PSMG1, SYNJ1, MCM3AP, CLDN8, ADAMTS1, ABCG1, URB1, CRYZL1, DOPEY2, KCNE2, RWDD2B, OLIG2, DSCR4, DSCR3, B3GALT5, USP16, CCT8, WDR4, FTCD, BTG3, HSF2BP, ADAMTS5, RRP1B, DIP2A, POFUT2, ICOSLG, MORC3, CLDN14, BACE2, C2CD2, LTN1, CLDN17, N6AMT1, USP25, DNMT3L, DONSON, HUNK, ZBTB21, PIGP, UBASH3A, RIPPLY3, BRWD1, SLC37A1, RBM11, PCBP3, C21orf58, YBEY, SMIM11, MIS18A, TSPEAR, SETD4, FAM3B, RIPK4, CLIC6, MRPL39, C21orf91, DNAJC28, C21orf62, MRAP, C21orf59, AGPAT3, MAP3K7CL, SCAF4, JAM2, EVA1C, PRDM15, SAMSN1, TMPRSS3, MRPS6, COL18A1, LRRC3, SPATC1L, DSCR8, FAM207A, RSPH1, UMODL1, PAXBP1, CYYR1, OLIG1, KRTAP13-1, TCP10L, CHODL, LIPI, ABCC13, LCA5L, IGSF5, SIK1, PLAC4, KRTAP15-1, KRTAP13-4, KRTAP7-1, KRTAP8-1, KRTAP11-1, KRTAP19-1, KRTAP13-2, KRTAP13-3, KRTAP23-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP20-1, KRTAP20-2, KRTAP21-1, KRTAP21-2, KRTAP22-1, KRTAP20-3, KRTAP12-2, KRTAP12-1, KRTAP10-10, KRTAP10-4, KRTAP10-6, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-11, KRTAP10-2, KRTAP10-5, KRTAP10-8, KRTAP10-3, KRTAP12-3, KRTAP12-4, KRTAP10-12, KRTAP26-1, LINC00114, MIRLET7C, MIR125B2, MIR155, MIR99A, KRTAP24-1, KRTAP27-1, LINC00163, KRTAP19-8, KRTAP25-1, KRTAP20-4, KRTAP22-2, KRTAP21-3 Phenotype: Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 21 Location (GRCh38):15499647-48090458 Accession: RCV000053045.1 ID: 2437049 34. Name: nsv530586 AND multiple conditions Gene(s): ALDH3A1, ALDH3A2, DRG2, FLII, LLGL1, MFAP4, MAPK7, PRPSAP2, SHMT1, SREBF1, TOP3A, RNF112, COPS3, ULK2, CCDC144A, PEMT, FBXW10, RAI1, GRAP, AKAP10, EPN2, MPRIP, TNFRSF13B, B9D1, TVP23B, MYO15A, RASD1, ALKBH5, MED9, SLC47A1, NT5M, GID4, LRRC48, ATPAF2, SPECC1, TBC1D27, MIEF2, SLC5A10, SMCR8, SMCR9, TOM1L2, SLC47A2, TRIM16L, FLCN, PLD6, NOS2P2, TBC1D28, LGALS9B, GRAPL, FAM83G, EVPLL, LGALS9C, MIR33B, ZNF286B, SNORD3A Phenotype: Global developmental delay, Abnormality of the heart, Abnormal facial shape, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 17 Location (GRCh38):16664132-20408162 Accession: RCV000051873.1 ID: 2436434 35. Name: nsv532286 AND multiple conditions Gene(s): ACTN3, ADRBK1, ALDH3B2, BBS1, GSTP1, SLC29A2, NDUFV1, PC, PPP1CA, PTPRCAP, RAD9A, RBM4, RPS6KB2, SPTBN2, CTSF, AIP, PITPNM1, RIN1, CCS, RCE1, DPP3, CDK2AP2, RBM14, YIF1A, B3GNT1, KDM2A, CLCF1, BRMS1, RHOD, CABP2, SSH3, CCDC87, PACS1, CABP4, CD248, CORO1B, CARNS1, POLD4, KLC2, MRPL11, LRFN4, C11orf80, TMEM134, RAB1B, RBM4B, SYT12, ACY3, PELI3, CNIH2, ZDHHC24, C11orf86, NUDT8, TMEM151A, NPAS4, ANKRD13D, TBX10, TBC1D10C, GPR152, RBM14-RBM4 Phenotype: Global developmental delay, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 11 Location (GRCh38):65960973-67658241 Accession: RCV000053623.1 ID: 2189919 36. Name: nsv529645 AND multiple conditions Gene(s): ATP2B2, BTD, CAV3, CCR4, DAZL, FANCD2, FBLN2, GLB1, GRM7, HRH1, IL5RA, IRAK2, ITPR1, MLH1, OGG1, OXTR, PPARG, RAB5A, RAF1, RARB, RPL15, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, STAC, SYN2, TGFBR2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, UBP1, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, LRRFIP2, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, EPM2AIP1, TRANK1, SRGAP3, IQSEC1, NR1D2, PDCD6IP, ARPC4, TADA3, CRTAP, ATG7, CHL1, ARPP21, CAND2, CLASP2, GPD1L, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, FBXL2, CNOT10, THUMPD3, SUSD5, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, SSUH2, TRNT1, DYNC1LI1, CRBN, CCDC174, GHRL, CMTM6, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, LRRN1, CIDEC, ZFYVE20, AZI2, MTMR14, MRPS25, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, IL17RC, EAF1, DCLK3, OXNAD1, CMTM7, OSBPL10, FANCD2OS, LRRC3B, GALNT15, KCNH8, TRIM71, CHCHD4, METTL6, TAMM41, IL17RE, SGOL1, PP2D1, EFHB, CPNE9, ZCWPW2, CMC1, NEK10, CMTM8, FGD5, CNTN4, STT3B, SUMF1, RPUSD3, PRRT3, DPH3, GADL1, ZNF860, COL6A4P1, TPRXL, LHFPL4, MIR128-2, TMPPE, EGOT, GHRLOS, FGD5-AS1, ARPC4-TTLL3 Phenotype: Cleft palate, isolated, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 3 Location (GRCh38):93949-37189567 Accession: RCV000051097.1 ID: 2436050 37. Name: nsv532410 AND multiple conditions Gene(s): ABCA1, ALAD, ALDOB, AUH, BAAT, CKS2, COL15A1, SLC31A1, SLC31A2, CTSV, CYLC2, ECM2, LPAR1, S1PR3, FANCC, FBP1, FKTN, FOXE1, GNG10, HSD17B3, IARS, MUSK, NCBP1, NFIL3, NINJ1, ROR2, OMD, OGN, PHF2, PPP3R2, PTCH1, PTPN3, RAD23B, RGS3, SYK, TAL2, TGFBR1, TMOD1, TXN, UGCG, CORO2A, XPA, ZFP37, ZNF189, NR4A3, IKBKAP, CDC14B, TMEFF1, CTNNAL1, FBP2, PRPF4, KLF4, GABBR2, TRIM14, PTBP3, SEMA4D, ANP32B, SPTLC1, SMC2, ACTL7B, ACTL7A, GADD45G, SEC61B, SLC35D2, AKAP2, ZNF510, HABP4, PTGR1, ERP44, FAM120A, BICD2, FKBP15, , TDRD7, SLC44A1, TMEM245, FRRS1L, NIPSNAP3A, OR2K2, INVS, C9orf156, SHC3, POLE3, NANS, MRPL50, EPB41L4B, NUTM2F, DIRAS2, ASPN, BSPRY, TEX10, FAM206A, STX17, NOL8, TMEM38B, NIPSNAP3B, TBC1D2, HEMGN, BARX1, RNF20, SLC46A2, INIP, ZNF462, SUSD1, IPPK, WNK2, SECISBP2, GALNT12, SVEP1, HDHD3, ZNF484, FSD1L, HSDL2, C9orf89, TMEM246, HIATL1, C9orf3, ALG2, FGD3, MSANTD3, PALM2, WDR31, GRIN3A, RNF183, PTPDC1, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, NXNL2, FAM120AOS, ZNF483, C9orf84, , TSTD2, ZNF782, ZNF883, ZNF169, AAED1, ZNF367, ANKS6, SUSD3, CDC26, TXNDC8, C9orf43, C9orf47, OR13C9, OR13D1, MURC, ERCC6L2, OR13C2, CENPP, C9orf152, SNX30, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR23B, MIR24-1, MIR27B, MIR32, NUTM2G, C9orf129, PALM2-AKAP2, DNAJC25, DNAJC25-GNG10, CCDC180, MSANTD3-TMEFF1 Phenotype: Global developmental delay, Short stature, Failure to thrive, Scoliosis, Abnormal facial shape, Cleft upper lip, Proteinuria Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 9 Location (GRCh38):91137207-116450076 Accession: RCV000053752.1 ID: 2437405 38. Name: nsv531080 AND multiple conditions Gene(s): ABAT, ABCA3, ADCY9, ARHGDIG, ATP6V0C, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, GFER, GRIN2A, HAGH, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, IGFALS, MEFV, CIITA, MPG, NUBP1, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, SRL, CAPN15, SSTR5, TCEB2, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, NPRL3, AXIN1, SOCS1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, SYNGR3, IL32, SLC9A3R2, SEC14L5, RAB11FIP3, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, CLUAP1, MAPK8IP3, CLEC16A, MGRN1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, DECR2, DEXI, C16orf72, UBN1, CDIP1, SOX8, AMDHD2, PAM16, NAGPA, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, RBFOX1, ZSCAN32, HCFC1R1, LUC7L, ALG1, NMRAL1, TBC1D24, CASKIN1, CRAMP1L, RAB40C, PRM3, TMEM8A, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, NARFL, TPSB2, HS3ST6, PDIA2, UNKL, LMF1, FAM173A, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, SNRNP25, ROGDI, TMEM204, NAA60, ATF7IP2, C16orf59, FAHD1, PRSS27, ITFG3, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, C16orf13, FAM195A, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, RHOT2, ZNF598, HN1L, SPSB3, TIGD7, RPUSD1, FLYWCH2, VASN, TSR3, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPT12, TEKT5, RNF151, PRR35, FBXL16, ZNF597, CCDC64B, C16orf89, C16orf71, FAM86A, WDR90, EME2, CASP16, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, SMIM22, CCDC154, C16orf90, SNHG9, CEMP1, TVP23A, MIR1225, MTRNR2L4, CORO7-PAM16 Phenotype: Global developmental delay, Muscular hypotonia, Abnormality of the heart, Tracheomalacia, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 16 Location (GRCh38):73141-11390552 Accession: RCV000052367.1 ID: 2436669 39. Name: nsv532323 AND multiple conditions Gene(s): CLEC4A, HEBP1, GOLT1B, YARS2, DERA, ING4, DDX47, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, KLRF1, WBP11, TM7SF3, SLCO1C1, PLEKHA5, MANSC1, TAPBPL, MAGOHB, FAM90A1, , PLEKHG6, CASC1, CCDC91, STYK1, ETNK1, GPRC5D, FAR2, ASUN, ATF7IP, H2AFJ, FOXJ2, ITFG2, LMO3, CMAS, DAD1P1, PRMT8, ARNTL2, PARP11, ANO2, C12orf4, C12orf5, LPAR5, AICDA, RIMKLB, KLHL42, , FAM60A, MRPS35, CLEC7A, WNK1, CAPRIN2, BHLHE41, BCL2L14, ADIPOR2, RERGL, PLBD1, PYROXD1, NANOG, SPX, DUSP16, WNT5B, APOLD1, GSG1, CDCA3, RHNO1, NRIP2, RBP5, TMTC1, CCDC77, ACRBP, SPSB2, EFCAB4B, ALG10, RERG, PLCZ1, CACNA2D4, CAPZA3, CLEC6A, C12orf57, LOH12CR1, TMEM52B, HIST4H4, ERP27, FGD4, AEBP2, SLC2A14, LYRM5, A2ML1, C12orf60, FBXL14, CLEC12A, CLECL1, LMNTD1, DENND5B, CLEC4C, ZNF384, AMN1, C12orf77, PIANP, DCP1B, METTL20, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, CD163L1, B4GALNT3, CLEC9A, CLEC4D, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, TAS2R42, DPPA3, NANOGNB, CLEC2A, CLEC12B, REP15, MIR141, MIR200C, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, TSPAN11, PRB2, LRTM2, SKP1P2, C12orf71, SLC15A5, MANSC4, KLRF2, A2M, APOBEC1, ARHGDIB, ART4, BCAT1, BICD1, C1R, C1S, C3AR1, CACNA1C, CCND2, CD4, CD9, CD27, CD69, CDKN1B, CHD4, CREBL2, DDX11, ATN1, PHC1, EMP1, ENO2, EPS8, ETV6, FGF6, FKBP4, FOXM1, GAPDH, GNAI2P1, GNB3, GPR19, GRIN2B, GUCY2C, GYS2, IAPP, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, LAG3, LDHB, LRMP, LRP6, LTBR, M6PR, MGP, MGST1, NDUFA9, NINJ2, NOP2, NTF3, OLR1, PDE3A, PDE6H, PIK3C2G, PKP2, PRB1, PRB3, PRB4, PRH1, PRH2, PTHLH, PTMS, PTPN6, PTPRO, PEX5, PZP, RAD52, KDM5A, RECQL, SCNN1A, ST8SIA1, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SOX5, VAMP1, TEAD4, TNFRSF1A, TPI1, TULP3, VWF, FGF23, MFAP5, USP5, MLF2, SSPN, KLRC4, PPFIBP1, YBX3, DYRK4, GPRC5A, CD163, MED21, GDF3, CLSTN3, C2CD5, NCAPD2, CLEC2B, DNM1L, ABCC9, LPCAT3, KLRG1, LRRC23, EMG1, IPO8, LEPREL2, AKAP3, SLCO1B1, RAD51AP1, KLRAP1, TSPAN9, STRAP, RASSF8, PRR4, PHB2, KLRK1, STK38L, ERC1, GABARAPL1, IFFO1, NECAP1, FGFR1OP2, CLEC4E, GALNT8, GPR162, SLCO1B3, CLEC2D, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14 Phenotype: Global developmental delay, Abnormality of the heart, Short stature, Hearing impairment, Abnormal facial shape, Cleft upper lip Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 12 Location (GRCh38):186353-34533111 Accession: RCV000053660.1 ID: 2437353 40. Name: nsv531629 AND multiple conditions Gene(s): A1BG, AP2A1, KLK3, BAX, BCAT2, CA11, CD33, SIGLEC6, CD37, CGB, DBP, EMP3, ETFB, FCAR, FCGRT, FLT3LG, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, GPR32, GRIN2D, GYS1, HAS1, HRC, PRMT1, IL11, IRF3, KCNA7, KCNC3, KCNJ14, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KLK1, KLK2, LAIR1, LAIR2, LHB, LIG1, LIM2, MYBPC2, NDUFA3, NKG7, CNOT3, NTF4, NUCB1, PEG3, POLD1, PPP2R1A, PRKCG, PRRG2, KLK7, KLK6, KLK10, PTPRH, RPL18, RPL28, RPS5, RPS9, RPS11, RRAS, CLEC11A, SNRNP70, SPIB, AURKC, SULT2B1, SYT5, TNNI3, TNNT1, TULP2, NR1H2, ZNF8, ZNF17, ZNF28, MZF1, ZNF132, ZNF134, ZNF135, ZNF137P, ZNF154, ZNF175, TEAD2, PPFIA3, PLA2G4C, SIGLEC5, UBE2M, CYTH2, ZNF264, NCR1, NAPSA, KLK4, ZNF432, TRIM28, ZNF256, LILRB2, ZNF211, ZNF274, ZNF460, RUVBL2, LILRB1, KDELR1, LILRB5, SLC27A5, LILRB4, KLK11, LILRA1, LILRB3, LILRA3, LILRA2, KLK8, PNKP, U2AF2, ATF5, PPP6R1, CARD8, RPL13A, SYNGR4, LILRA4, ZIM2, NUP62, HSPBP1, PPP1R15A, ZNF324, KLK5, ZNF473, KLK13, PRPF31, FGF21, SIGLEC7, DKKL1, SIGLEC9, SIGLEC8, CHMP2A, DHDH, ZNF544, UBE2S, SLC6A16, TFPT, CCDC106, EPN1, KLK14, KLK12, SHANK1, NOSIP, ZNF580, HSD17B14, GP6, VRK3, ZNF581, PTOV1, PPP1R12C, TRPM4, ZNF586, FAM83E, EPS8L1, RASIP1, PIH1D1, C19orf73, TMEM143, ZNF444, ZNF331, KLK15, NLRP2, ZNF416, ZNF446, ZNF701, ZNF83, ZNF415, CABP5, SPHK2, SLC17A7, NAT14, VN1R1, RCN3, ZNF304, TTYH1, PRR12, ZNF471, USP29, PLEKHA4, ZNF71, SCAF1, CACNG8, CACNG7, CACNG6, ZNF350, TSKS, ZNF667, ELSPBP1, LIN7B, ZNF649, ZSCAN18, TSEN34, MBOAT7, ZSCAN5A, LENG1, LILRA6, ZNF329, TBC1D17, ZNF419, ISOC2, MYH14, ZNF665, ZNF552, ZNF671, ZNF613, ZNF606, ZNF614, FUZ, ZNF611, MED25, BCL2L12, GRWD1, SYT3, AKT1S1, ZNF528, BRSK1, ZNF347, ZNF577, SUV420H2, C19orf48, ZBTB45, ZNF587, FIZ1, GALP, SIGLEC10, SIGLEC12, ZNF628, ZNF551, ZNF616, ZNF766, ZNF468, ZNF160, CTU1, ZNF835, ZNF765, NLRP12, MYADM, ZNF845, CCDC114, ACPT, CGB5, CGB7, LRRC4B, LENG9, CGB8, BIRC8, FAM71E1, RDH13, PTH2, ZIM3, SIGLEC11, CGB1, CGB2, LMTK3, LENG8, KIR3DL3, ZNF837, CLDND2, ZNF816, ZNF543, COX6B2, OSCAR, ZNF813, JOSD2, IZUMO2, CPT1C, ALDH16A1, NTN5, NLRP13, NLRP8, NLRP5, ZNF787, ZFP28, VSIG10L, ZNF480, ZNF534, ZNF578, ERVV-1, SMIM17, C19orf18, ZNF418, ZNF417, ZNF548, TMEM190, TMC4, ZNF524, ZNF784, CCDC155, NLRP4, ZNF582, ZNF583, CDC42EP5, ZNF836, ZNF610, ZNF600, ZNF320, ZNF497, ZNF550, ZNF579, ZNF114, SPACA4, NLRP7, ADM5, ZNF584, ZSCAN4, NLRP11, TMEM86B, ZNF549, IL4I1, SSC5D, ZNF547, ZIK1, ZNF776, ZSCAN1, MAMSTR, IZUMO1, EMC10, KLK9, SIGLECL1, ZNF615, ZNF841, VSTM1, TMEM150B, FAM71E2, VN1R2, VN1R4, NLRP9, C19orf81, ZNF677, RFPL4A, ZSCAN5B, ZSCAN22, ZNF530, DNAAF3, LILRA5, C19orf68, ZNF773, ZNF808, ZNF888, ZNF761, TMEM238, ZNF470, ZNF749, ZNF324B, ZNF805, ZNF880, ZNF772, IGLON5, MIRLET7E, MIR125A, MIR150, MIR99B, TARM1, MIR371A, MIR372, MIR373, DPRX, DUXA, KIR3DP1, ASPDH, MIR519D, MIR520H, SBK2, ZSCAN5D, CEACAM18, SHISA7, RFPL4AL1, ZNF814, SIGLEC14, BSPH1, ERVV-2, ZNF587B, ZNF865, ZNF816-ZNF321P Phenotype: Global developmental delay, Failure to thrive, Abnormal facial shape, Cleft upper lip, Seizure Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 19 Location (GRCh38):48432832-59083573 Accession: RCV000052915.1 ID: 2436944 41. Name: nsv530609 AND multiple conditions Gene(s): BMP6, BPHL, DSP, EDN1, SERPINB1, F13A1, FOXF2, FOXC1, GCNT2, GMDS, HIVEP1, IRF4, MAK, NEDD9, NQO2, SERPINB6, SERPINB9, RREB1, SSR1, TFAP2A, TUBB2A, RIPK1, PRPF4B, GCM2, CDYL, LY86, EEF1E1, ECI2, FARS2, RPP40, FAM50B, SLC35B3, TBC1D7, NRN1, TMEM14C, GFOD1, ELOVL2, PAK1IP1, EXOC2, WRNIP1, LYRM4, SLC22A23, BLOC1S5, TMEM14B, RIOK1, ADTRP, FOXQ1, HUS1B, SNRNP48, C6orf195, PHACTR1, SMIM13, SYCP2L, PXDC1, FAM217A, OFCC1, CAGE1, MYLK4, TUBB2B, C6orf52, PSMG4, C6orf201, ERVFRD-1, GCNT6, PPP1R3G, HULC, TMEM170B Phenotype: Nonsyndromic microcephaly, Global developmental delay, Abnormality of skin pigmentation Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):389423-13475188 Accession: RCV000051896.1 ID: 2436445 42. Name: nsv530582 AND Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing Gene(s): BMP6, BPHL, DSP, EDN1, SERPINB1, F13A1, FOXF2, FOXC1, GCNT2, GMDS, GMPR, HIVEP1, IRF4, JARID2, MAK, NEDD9, NQO2, SERPINB6, SERPINB9, RREB1, ATXN1, SSR1, TFAP2A, TPMT, TUBB2A, DEK, RIPK1, PRPF4B, GCM2, CD83, CDYL, LY86, EEF1E1, NUP153, RANBP9, ECI2, CAP2, FARS2, RPP40, SIRT5, FAM50B, MYLIP, SLC35B3, TBC1D7, NRN1, NOL7, FAM8A1, TMEM14C, GFOD1, ELOVL2, PAK1IP1, EXOC2, WRNIP1, DUSP22, LYRM4, SLC22A23, BLOC1S5, MCUR1, KIF13A, TMEM14B, RIOK1, DTNBP1, ADTRP, FOXQ1, HUS1B, SNRNP48, C6orf195, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, FAM217A, OFCC1, CAGE1, MYLK4, TUBB2B, C6orf52, NHLRC1, PSMG4, STMND1, C6orf201, ERVFRD-1, GCNT6, PPP1R3G, HULC, TMEM170B Phenotype: Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing Clinical Significance: Pathogenic Review Status: classified by single submitter Chromosome: 6 Location (GRCh38):106431-18360826 Accession: RCV000051869.1 ID: 2436430