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["Pathogenic Copy Number Variants"]
["Chr.","CGH arry hg19","size (Kb)","genes","tissue","OMIM associated syndrome","clinical observations","DECIPHER - 2025","Notes","Laboratory"]
[1,"1q21.1q21.2(146086981_147824207)x3dn","1734,2","NBPF20, NBPF19, NBPF10(OMIM614000), NBPF12(OMIM614003), PRKAB2(OMIM602741), CHD1L(OMIM613039), FMO5(OMIM603957), BCL9 (OMIM602597), ACP6(OMIM611471), GJA5 (OMIM121013), GJA8 (OMIM600897), GPR89B (OMIM612806), NBPF11(OMIM614001).","AF cultured","1q21.1 microduplication syndrome (OMIM612475) -variable phenotype and incomplete penetrance",null,"more than 100 cases showing overlapping duplications classified as pathogenic CNVs (54%), uncertain CNVs (45%), benign CNV (1%).",null,1]
[1,"1q21.1q21.2(146531538_147712417)x3pat","1180,9","NBPF12(OMIM614003), PRKAB2(OMIM602741),  CHD1L(OMIM613039), FMO5(OMIM603957), BCL9 (OMIM602597), ACP6(OMIM611471), GJA5(OMIM121013), GJA8(OMIM600897)","AF fresh","1q21.1 microduplication syndrome (OMIM612475)",null,"81 cases with overlapping duplications classified as pathogenic (43 cases) or uncertain (38 cases).",null,1]
[1,"1q43q44(242270256_243786048)x3dn, 1q44(243880099_249208332)x1dn ","1515,8; 5328,2","duplication: SDCCAG8 (OMIM613524) AKT3 (OMIM611223 first 5 deleted exones on 14). Deletion: AKT3 (OMIM611223; including last 2 exons of 14), ZBTB18 (OMIM608433), ADSS(OMIM103060), CATSPERE(OMIM617510), DESI2(OMIM614638), HNRNPU (OMIM602869), EFCAB2(OMIM619617), KIF26B(OMIM614026), SMYD3(OMIM608783), TFB2M(OMIM607055), CNST(OMIM613439), AHCTF1 (OMIM610853), ZNF695(OMIM616348), ZNF124(OMIM194631), ZNF496(OMIM613911), NLRP3 (OMIM606416), OR13G1(OMIM611677), TRIM58(OMIM620527), OR2W3(OMIM616729), OR2M7(OMIM618509), OR14I1(OMIM618516), LYPD8(OMIM617067), SH3BP5L(OMIM620652), ZNF692(OMIM617758)","CVS fresh","Chromosome 1q43-q44 deletion syndrome (OMIM612337)","twin pregnancy: twin A showing increased nucal translucency and pathogenic CNV, twin B normal","Duplication: 1 uncertain. Deletion: 18 pathognic and 2 uncertain",null,2]
[2,"2p16.3(50955508_51246088)x1pat","290,6","NRXN1(OMIM600565; included exons 3, 4 and 5 out of 23)","CVS fresh","OMIM600565: described cases with heterozygous loss regarding intragenic tracts associated to pathology",null,"46 cases: 20 pathogenetic and 26 uncertain",null,1]
[2,"2p16.3(51116571_51306920)x1mat","190,4","NRXN1(OMIM600565; included the first 5 exons out of 23)","CVS cultured","OMIM600565: heterozygous loss regarding intragenic tracts associated to pathology",null,"42 cases: 18 pathogenetic and 24 uncertain",null,1]
[2,"2p14(65340313_68217971)x1dn","2877,7","ACTR2 (OMIM604221), SPRED2 (OMIM609292), MEIS1 (OMIM601739) e ETAA1 (OMIM613196)","CVS fresh",null,"twin pregnancy: bicoriale/biamniotica: twin A showing increased translucency, twin B normal.","5 cases: 3 likely pathogenetic; 2 uncertain",null,2]
[2,"2q23.1(149071747_149115913)x1","44,2","MBD5(OMIM611472), exon 5 deleted (15 exons isoform)","CVS fresh","associated to Intellectual developmental disorder, autosomal dominant 1 (OMIM156200)",null,"4 cases: 2 uncertain and 2 pathogenetic",null,1]
[4,"4p12p11(46563644_49083290)x1mat","2519,6","COX7B2, GABRA4, GABRB1(OMIM137190), COMMD8, CORIN, CNGA1(OMIM123825), TXK, TEC(OMIM227050), SLAIN2, ZAR1","CVS fresh",null,null,"only partially overlapping; 5 uncertain containg the tract with CNGA gene and TEC gene; 1 uncertain containing GABRB1",null,1]
[7,"7p22.1(5692798_6475905)x1⁓2","783,1","Deletion at mosaic: RNF216(OMIM609948), OCM(OMIM164795), PMS2(OMIM600259), AIMP2(OMIM600859), EIF2AK1(OMIM613635), CYTH3(OMIM605081), FAM220A(OMIM616628), RAC1(OMIM602048), DAGLB(OMIM614016), KDELR2, GRID2IP, ZNF12.","CVS fresh",null,null,"1 uncertain ",null,1]
[8,"8p23.1(7169490_12241152)x1dn","5071,7","FAM66B, DEFB109B, USP17L1, USP17L4, ZNF705G, DEFB4B, DEFB103B, DEFB103A, SPAG11B, DEFB104A, DEFB104B, DEFB106B, DEFB106A, DEFB105B, DEFB105A, DEFB107A, DEFB107B, PRR23D1, PRR23D2, FAM90A7P, FAM90A10P, SPAG11A, DEFB4A, ZNF705B, FAM66E, USP17L8, USP17L3, FAM85B, FAM86B3P, PRAG1, CLDN23, MFHAS1, ERI1, SNORD3I, PPP1R3B, LOC101929128, LOC157273, TNKS, LINC00599, MSRA, LINCR-0001, PRSS55, RP1L1, C8orf74, SOX7, LOC102723313, PINX1, LOC101929229, XKR6, LOC101929269, MTMR9, SLC35G5, TDH, LOC100129129, FAM167A-AS1, FAM167A, BLK, LINC00208, GATA4, SNORA99, C8orf49, NEIL2, FDFT1, CTSB, DEFB136, DEFB135, DEFB134, DEFB130B, DEFB130A, ZNF705D, FAM66D, LOC392196, USP17L7, USP17L2, FAM90A2P, FAM86B1, FAM86B2, FAM85A, FAM66A, LOC649352","AF cultured",null,"previously performed on CVS fresh: CNV at mosiac, 48 %","12 cases: 10 pathogenic, 2 uncertain","Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.\nRedaelli S, Conconi D, Sala E, Villa N, Crosti F, Roversi G, Catusi I, Valtorta C, Recalcati MP, Dalprà L, Lavitrano M, Bentivegna A.\nInt J Mol Sci. 2022 Mar 20;23(6):3347.",2]
[9,"9p13.1p11.2(38869901_47199169)x3, 9q13q21.11(66505289_70964423)x3 ","8329,3; 4459,1","Duplication 9p: CNTNAP3(OMIM610517), FAM75A1, FAM75A2, LOC653501, ZNF658B, FAM74A1, FAM75A3, FAM74A3, ZNF658(OMIM616290), FAM75A5, FAM75A7, MGC21881, KGFLP2, ANKRD20A2, ANKRD20A3, FAM95B1, FOXD4L2, FOXD4L4, AQP7P3, LOC642929, FAM75A6, FAM27C, FAM27A, KGFLP1. Duplication 9q: AQP7P1, AQP7P2, FAM27B, ANKRD20A1, ANKRD20A3, PGM5P2, LOC440896, FOXD4L6, CBWD6, ANKRD20A4, CCDC29, LOC100133920, FOXD4L5, FOXD4L2, FOXD4L4(OMIM611085), CBWD3(OMIM611080), CBWD5, FOXD4L3(OMIM611086)","CVS cultured",null,null,"no genes OMIM associated to pathology","possible interpretation: presence of a marker chromosome 9?? Not found in conventional cytogenetics",2]
[11,"11q24.3q25(130757163_133531350)x1pat","2774,2","Including genes dosage-sensible : NTM (OMIM607938) and OPCML (OMIM600632)","CVS fresh",null,null,"2 cases: 1 uncertain and 1 pathogenetic ",null,2]
[15,"15q25.2(83283503_84812693)x1dn","1529,2","CPEB1, CPEB1-AS1, AP3B2(OMIM602166), LOC338963, ACTG1P17, SNHG21, FSD2, SCARNA15, WHAMM, HOMER2(OMIM604799), RAMAC, C15orf40, BTBD1, MIR4515, TM6SF1, HDGFL3, BNC1, SH3GL3, ADAMTSL3(OMIM619199), EFL1P1","CVS fresh","OMIM614295: 15q25 DELETION SYNDROME",null,"7 cases: 4 uncertain and 3 pathologenetic",null,2]
[15,"15q26.1q26.2(91888357_96110378)x1",4222,"SLCO3A1(OMIM612435), STX(OMIM602546), RGMA(OMIM607362), MCTP2(OMIM616297), CHD2(OMIM602119)","CVS fresh",null,null,"2 cases: 1 uncertain and 1 pathologenetic",null,1]
[16,"16p13.3(100293_620362)x1mat","520,1","genes OMIM associeted to pathology: POLR3K (OMIM606007), NPRL3 (OMIM600928), HBA2 (OMIM141850), HBA1 (OMIM141800),  AXIN1 (OMIM603816) e CAPN15 (OMIM603267)","AF cultured",null,null,"3 cases: 2 pathogenetic and 1 uncertain",null,2]
[16,"16p11.2(28854968_29031059)x3mat","176,1"," TUFM (OMIM602389), ATP2A1 (OMIM108730), SH2B1 (OMIM608937) e CD19 (OMIM107265)","AF cultured","OMIM614671: Chromosome 16p11.2 duplication syndrome","Twin pregnancy: twin B showing increased translucency, twin A normal showing CNV. Twins monozygotic checked with microsatellite allelic segregation.","70 cases: 51 unknown and 19 pathogenetic","reported in Refining the Phenotype of Recurrent Rearrangements of Chromosome 16. Redaelli S, Maitz S, Crosti F, Sala E, Villa N, Spaccini L, Selicorni A, Rigoldi M, Conconi D, Dalprà L, Roversi G, Bentivegna A.",2]
[16,"16p11.2(29590554_30198600)x1dn",608,"SPN(OMIM182160), QPRT(OMIM606248), ZGI6(OMIM617311), KIF22(OMIM603213), MAZ(OMIM600999), PAGR1(OMIM612033), PRRT2(OMIM614386), MVP(OMIM605088), CDIPT(OMIM605893), SEZ6L2(OMIM616667), KCTD13(OMIM608947), TMEM219(OMIM620290), TAOK2(OMIM613199), HIRIP3(OMIM603365), DOC2A(OMIM604567), C16orf92(OMIM618911), TLCD3B(OMIM615175), ALDOA(OMIM103850), PPP4C(OMIM602035), TBX6(OMIM602427), YPEL3(OMIM609724), GDPD3(OMIM616318), MAPK3(OMIM601795), CORO1A(OMIM605000)","CVS fresh","OMIM611913:Chromosome 16p11.2 deletion syndrome, 593kb ",null,"more than 500 cases: 67% pathogenetic; 33% uncertain. Incomplete penetrance",null,1]
[17,"17p12(14100118_15442069)x1pat",1342,"COX10(OMIM602125), HS3ST3B1(OMIM604058), PMP22(OMIM601097), TEKT3(OMIM622683)","CVS fresh","PMP22gene deleted or duplicated was allways associated to pathology",null,"68 cases: 37 uncertain and 31 pathologenetic",null,1]
[17,"17p11.2(16674288_20295384)x1","3621,1","RAI1 (OMIM607642), SREBF1 (OMIM184756), ATPAF2 (OMIM608919), MYO15A (OMIM602666), TOP3A (OMIM601243), GRAP (OMIM604330), B9D1 (OMIMI614144), ALDH3A2 (OMIM609523) e AKAP10 (OMIM604694)","CVS fresh",null,"Smith-Magenis Syndrome","60 cases: 27 uncertain and 33 pathological",null,2]
[17,"17q12(34841209_36248918)x1dn","1407,7","ZNHIT3(OMIM604500), MYO19(OMIM617379), PIGW(OMIM610275), GGNBP2(OMIM612275), DHRS11(OMIM616159), MRM1(OMIM618099), LHX1(OMIM601999), AATF(OMIM608463), ACACA(OMIM200350), TADA2A(OMIM602276), DUSP14(OMIM606618), SYNRG(OMIM607291), DDX52(OMIM612500), TCF2(OMIM189907)","CVS cultured","OMIM614527: Chromosome 17q12 deletion syndrome",null,"described about 90 cases, more than fifty reported as pathogenetic, the others uncertain",null,1]
[22,"22q11.21(18661724_21704972)x1","3043,2","PRODH (OMIM606810),DGCR5(OMIM618040), DGCR2(OMIM600594), DGSI(OMIM601755), TSSK2(OMIM610710), GSC2(OMIM601845), SLC25A1(OMIM190315), CLTCL1(OMIM601273), HIRA (OMIM600237), MRPL40(OMIM605089), UFD1L(OMIM601754), CDC45L(OMIM603465), CLDN5(OMIM602101), SEPT5(OMIM602724), GP1BB(OMIM138720), TBX1 (OMIM602054), GNB1L(OMIM610778), TXNRD2(OMIM606448), COMT(OMIM116790), ARNCF(OMIM602269), TANGO2(OMIM616830), DGCR8(OMIM609030), TRMT2A(OMIM611151), ZDHHC8(OMIM608784), RANBP1(OMIM601180), RTN4R(OMIM605566),DGCR6L(OMIM609459), GGTLC3(OMIM612340), RIMBP3(OMIM612699), ZNF74(OMIM194548), SCARF2(OMIM613619), KLHL22(OMIM618020), MED15(OMIM607372), PI4KA(OMIM600286), HCF2(OMIM142360), SNAP29(OMIM604202), CRKL(OMIM602007), AIFM3(OMIM617298), LZTR1(OMIM600574), SLC7A4(OMIM603752), P2RXL1(OMIM608077).","CVS fresh","OMIM188400: DI GEORGE SYNDROME. OMIM611867: Chromosome 22q11.2 deletion syndorme, distal.",null,"absolutely pathogenetic ",null,2]
[22,"22q11.21(18919528_20246877)x3","1327,4","PRODH (OMIM606810),DGCR5(OMIM618040), DGCR2(OMIM600594), DGSI(OMIM601755), TSSK2(OMIM610710), GSC2(OMIM601845), SLC25A1(OMIM190315), CLTCL1(OMIM601273), HIRA (OMIM600237), MRPL40(OMIM605089), UFD1L(OMIM601754), CDC45L(OMIM603465), CLDN5(OMIM602101), SEPT5(OMIM602724), GP1BB(OMIM138720), TBX1 (OMIM602054), GNB1L(OMIM610778), TXNRD2(OMIM606448), COMT(OMIM116790), ARNCF(OMIM602269), TANGO2(OMIM616830), DGCR8(OMIM609030), TRMT2A(OMIM611151), ZDHHC8(OMIM608784), RANBP1(OMIM601180), RTN4R(OMIM605566).","CVS fresh","OMIM6083663: Chromosome 22q11.2 microduplication syndrome",null,"40 overlapping cases: 16 pathogenetic and the others uncertain",null,1]
[22,"22q11.21(18919528_21452346)x1","2532,8","PRODH (OMIM606810),DGCR5(OMIM618040), DGCR2(OMIM600594), DGSI(OMIM601755), TSSK2(OMIM610710), GSC2(OMIM601845), SLC25A1(OMIM190315), CLTCL1(OMIM601273), HIRA (OMIM600237), MRPL40(OMIM605089), UFD1L(OMIM601754), CDC45L(OMIM603465), CLDN5(OMIM602101), SEPT5(OMIM602724), GP1BB(OMIM138720), TBX1 (OMIM602054), GNB1L(OMIM610778), TXNRD2(OMIM606448), COMT(OMIM116790), ARNCF(OMIM602269), TANGO2(OMIM616830), DGCR8(OMIM609030), TRMT2A(OMIM611151), ZDHHC8(OMIM608784), RANBP1(OMIM601180), RTN4R(OMIM605566),DGCR6L(OMIM609459), GGTLC3(OMIM612340), RIMBP3(OMIM612699), ZNF74(OMIM194548), SCARF2(OMIM613619), KLHL22(OMIM618020), MED15(OMIM607372), PI4KA(OMIM600286), HCF2(OMIM142360), SNAP29(OMIM604202), CRKL(OMIM602007), AIFM3(OMIM617298), LZTR1(OMIM600574), SLC7A4(OMIM603752), P2RXL1(OMIM608077).","CVS cultured","OMIM188400: DI GEORGE SYNDROME. OMIM611867: Chromosome 22q11.2 deletion syndorme, distal.",null,"absolutely pathogenetic ",null,1]
[22,"22q11.22q11.23(23055147_23639176)x1dn",584,"MIR650(OMIM615379), RSPH14(OMIM605663), GNAZ(OMIM139160), RAB36(OMIM605662), BCR(OMIM151410; included from 1 to 16 exons (23 total exons)","CVS fresh",null,null,"38 overlapping cases: 6/37 reported as pathogenetic, 31/37 uncertain, 1/37 likely benign.",null,1]
[22,"22q12.3(34223415_34382427)x3pat",159,"LARGE (OMIM603590); included the first 2 out of 16 total exons (dosage-sensitive gene)","CVS fresh",null,null,"not reported (not reported in DGV too)",null,1]
[22,"22q13.2q13.31(42,017,928-45,675,439)x1dn","3657,5","XRCC6(OMIM152690), NHP2L1(OMIM601804), MEI1(OMIM608797), CCDC134(OMIM618788), SREBF2(OMIM600481), MIR33A(OMIM612156), SHISA8(OMIM617329), TNFRSF13C(OMIM606269), PANE1(OMIM610152), NAGA(OMIM104170), PHETA2(OMIM614240), NDUFA6(OMIM602138), TCF20(OMIM603107), SEPT38OMIM608314), WBP2NL(OMIM610981), SMDT1(OMIM615588), CYP2D6(OMIM124030), NFAM1(OMIM608740), SERHL(OMIM607979), RRP7A(OMIM619449), SERHL2(OMIM619045), POLDIP3(OMIM611520), RNU12(OMIM620204), CYB5R3(OMIM613213), A4GALT(OMIM607922), ARFGAP3(OMIM612439), PACSIN2(OMIM604960), TTLL1(OMIM608955), BIK(OMIM603392), MCAT(OMIM614479), TTLL2(OMIM619410), SCUBE1(OMIM611746), TSPO(OMIM109610), MPPED1(OMIM602112), EFCAB6(OMIM619664), SULT4A1(OMIM608359), PNPLA5(OMIM611589), PNPLA3(OMIM609567), SAMM50(OMIM612058), PARVB(OMIM608121), PARVG(OMIM608122), SHISAL1(OMIM620260), PRR5(OMIM609406), ARHGAP8(OMIM609405), PHF21B(OMIM616727), NUP50(OMIM604646), KIAA0930(OMIM619709)","CVS fresh","Upadia J, Gonzales PR, Atkinson TP, Schroeder HW, Robin NH, Rudy NL, Mikhail FM. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. Am J Med Genet A. 2018 Dec;176(12):2791-2797. ",null,"4 ases: 2 pathogenetic and 2 uncertain",null,1]
[" X","Xp22.33(182159_639912)x3","457,8","PLCXD1(OMIM300974), GTPBP6(OMIM300124), PPP2R3B(OMIM300339),SHOX(OMIM312865)","CVS cultured","Bunyan DJ, Hobbs JI, Duncan-Flavell PJ, Howarth RJ, Beal S, Baralle D, Thomas NS. SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts. Cytogenet Genome Res. 2022;162(11-12):587-598. ",null,"1 uncertain in male case",null,1]
["X"," Xp21.1(31719489_31869919)x0mat","150,4","DMD(OMIM300377; exons 6 to 9 of 32, NM_004020,4 isoform)","CVS fresh",null,null,"2 pathogenetic cases: one in male case and one in female case; 3 uncertain: one female, one male, one sex unknown.",null,1]
["X","Xq22.2q22.3(103559711_105856857)x2mat","2297,1","IL1RAPL2(OMIM300277), TEX13A(OMIM300312), NRK(OMIM300791), SERPINA7(OMIM314200), TBG(OMIM314200), MUM1L1, CXorf57","CVS fresh",null,null,"1 uncertain in a DE NOVO female case (protein coding gene with no pTRIPLO score)",null,2]

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["Copy Number Variants of Unknown Significance"]
["Chr","CGH arry hg19","size (Kb)","genes","tissue","OMIM associated syndrome","clinical observations","DECIPHER - 2025","Notes","Laboratory (Lab)"]
[1,"1p36.22(9964123_10224998)x1",260.9,"CTNNBIP1(OMIM607758), LZIC(OMIM610458), NMNAT1(OMIM608700), RBP7(OMIM608604), UBE4B(OMIM613565)","CVS fresh","no genes causing 1p36 deletion syndrome (OMIM607872, OMIM619343)",null,"the genes present were considered aploinsufficient, but only 1  CNV overlapping inheredited, not classified, estimation of frequency <1% in health normal population",null,1]
[1,"1p12(120410218_120510017)x3pat",99.8,"ADAM30 (OMIM604779), NOTCH2 (OMIM600275, exons from 9 to 34, 34 total)","CVS cultured","the gene NOTCH2 is cause of Alagille syndrome 2 (OMIM610205) and Hajdu-Cheney syndrome (OMIM102500), both autosomic dominant ",null,"the CNV reported are larger and not comparable","also in DGV",1]
[1,"1q21.1(144932763_146087040)x3mat",1154.3,"PDE4DIP(OMIM608117), NOTCH2NLA (OMIM618023), NBPF10(OMIM614000), HJV(OMIM608374), TXNIP(OMIM606599), POL3GL(OMIM617457), RBM8A(OMIM605313), PEX11B(OMIM603867), ITGA10(OMIM604042), POLR3C(OMIM617454), RNF115(OMIM619535), CD160(OMIM604463), PDZK1(OMIM603831), GPR89A(OMIM612806), NBPF8(OMIM613998)","AF cultured","preceding the tract of 1q21.1 microduplication syndrome (OMIM612475)",null,"5 cases uncertain. Incomplete penetrance.",null,1]
[1,"1q21.1(145079786_145799602)x3mat",719.8,"NBPF10 (OMIM614000), HJV (OMIM608374), RBM8A (OMIM605313), PEX11B (OMIM603867) and CD160 (OMIM604463).","CVS fresh","preceding the tract of 1q21.1 microduplication syndrome (OMIM612475)",null,"12 cases: 8 uncertain and 4 pathogenetic, Incomplete penetrance.","also in DGV",2]
[1,"1q44(245476117_245811029)x3",335,"KIF26B (OMIM614026 not associated to pathology, exons from 3 to 10, 15 total)","AF cultured","Gene estimated aploinsuffucient if it is deleted, there was no evidence of pathology if it is duplicated. ",null,"2 uncertain overlapping, only one inheredited","also in DGV",1]
[2," 2p22.1(39229027_39251297)x1mat",22.3,"SOS1 (OMIM182530, exons from 9 to 17, 23 total)","AF cultured","gene associated to Noonan syndrome","twin monochorial biamniotic pregnancy: twin A with nuchal translucency iincreased showing variant, twin B normal without variant","NO reports",null,2]
[2,"2q12.1q13(108556123_110457756)x3mat",1901.6,"SLC5A7 (OMIM608761), RANBP2 (OMIM601181) and EDAR (OMIM604095)","CVS fresh",null,null,"23 cases: 18 uncertain and 5 pathogenetic (10/23 inherited from a healthy parent)",null,2]
[2,"2q13(110479202_110968895)x3mat",489.7,"RGPD5, RGPD6, RGPD8, MALL(OMIM602022), NPHP1(OMIM601700)","CVS fresh","The presence of large homozygous deletions of approximately 250 kb in the 2q13 region in most patients with juvenile nephronophthisis (NPHP1; 256100) allowed Saunier et al. (1997) to define a minimal deletion interval for the NPH1 gene. Unlikely triplosensitive.",null,"3 cases: 2 uncertain and 1 benign","also in DGV",1]
[2,"2q13(110479202_110968895)x3",489.7,"RGPD5, RGPD6, RGPD8, MALL(OMIM602022), NPHP1(OMIM601700)","CVS cultured","The presence of large homozygous deletions of approximately 250 kb in the 2q13 region in most patients with juvenile nephronophthisis (NPHP1; 256100) allowed Saunier et al. (1997) to define a minimal deletion interval for the NPH1 gene. Unlikely triplosensitive.",null,"3 cases: 2 uncertain and 1 benign","also in DGV",1]
[2,"2q13(110862369_110977999)x3pat",115.6,"MALL(OMIM602022; included only the first exon, 4 total), NPHP1(OMIM601700)","CVS fresh","The presence of large homozygous deletions of approximately 250 kb in the 2q13 region in most patients with juvenile nephronophthisis (NPHP1; 256100) allowed Saunier et al. (1997) to define a minimal deletion interval for the NPH1 gene. Unlikely triplosensitive.",null,"32 cases: 31 uncertain (11 out of 31 inheredited from a health parent) and 1 likely benign","also in DGV",1]
[2,"2q13(110862477_110968895)x1",106.4,"MALL(OMIM602022; included only the first exon, 4 total), NPHP1(OMIM601700)","CVS cultured","The presence of large homozygous deletions of approximately 250 kb in the 2q13 region in most patients with juvenile nephronophthisis (NPHP1; 256100) allowed Saunier et al. (1997) to define a minimal deletion interval for the NPH1 gene. Unlikely triplosensitive.",null,"35 cases: 2 pathogenetic, 26 uncertain, 7 benign (10 out of 35 inherited from a healthy parent)","also in DGV",1]
[2,"2q21.1(131501506_131858489)x1",357,"AMER3, ARHGEF4(OMIM605216), FAM168B(OMIM620068) not associated to pathology","CVS cultured",null,null,"8 cases: uncertain (2/8 inherited from a parent who shows similar proband phenotype. Valuation of frequency in general population is >5%)","also in DVG",1]
[2,"2q32.3(192272901_194011228)x1mat",1738.3,"MYOIB(OMIM606537), NABPI(OMIM612103), CAVIN2(OMIM606728), TMEFF2(OMIM605734), PCGEM1(OMIM605443) not associated to pathology","AF cultured",null,null,"NO reports, only much larger",null,1]
[2,"2q36.1(224822150_224831349)x1mat",9.2,"MRPL44(OMIM611849; only the first 3 exons)","AF fresh",null,null,"NO reports, only much larger",null,1]
[3," 3p26.3p26.1(401802_5098933)x1dn",4697,"CHL1(OMIM607416), CNTN6, CNTN4(OMIM607280 dose-sensitive), IL5RA, TRNT1(OMIM612907, Retinitis pigmentosa and erythrocytic microcytosis), CRBN(OMIM609262, Mental retardation, autosomal recessive 2), LRRN1, SETMAR, SUMF1(OMIM607939, Multiple sulfatase deficiency), ITPR1(OMIM147265, Gillespie syndrome, Spinocerebellar ataxia 15. Dose-sensitive), EGOT, LOC100507582, BHLHE40","CVS fresh",null,null,"NO reports, only cases much larger",null,2]
[3,"3p25.2(12507297_12833915)x3mat",326.6,"TSEN2(OMIM618753), MKRN2(OMIM608426), RAF1(OMIM164760)","AF cultured","Luo C, Yang YF, Yin BL, Chen JL, Huang C, Zhang WZ, Wang J, Zhang H, Yang JF, Tan ZP. Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome. Am J Med Genet A. 2012 Aug;158A(8):1918-23","twin pregnancy:A","NO reports. 8 cases including only gene RAF1 and evaluated as uncertain","also in DVG",1]
[3,"3p25.2(12507297_12833915)x3 mat",326.6,"TSEN2(OMIM618753), MKRN2(OMIM608426), RAF1(OMIM164760)","AF cultured",null,"twin pregnancy:B","NO reports. 8 cases including only gene RAF1 and evaluated as uncertain","also in DVG",1]
[3,"3p21.31(49628553_49649060)x1",20.5,"BSN(OMIM604020, intronic CNV) not associated to pathology","CVS cultured",null,null,"NO reports","also in DVG",1]
[3,"3p12.3(76594483_76918117)x1",323.6,"ROBO2(OMIM602431, intronic CNV)","AF cultured",null,null,"4 cases: 1 pathogenetic and 2 uncertain (one inherited), 1 benign smaller, always intronic","also in DVG",1]
[3,"3q13.2q13.31(112932822_113568040)x1",635.2,"BOC(OMIM608708), CFAP44(OMIM617559), SPICE1(OMIM613447), SIDT1(OMIM606816), USF3(OMIM617568), NAA50(OMIM610834), ATP6V1A (OMIM607027), GRAMD1C(OMIM620180)","CVS cultured",null,null,"3 cases: 2 uncertain and 1 pathogenetic. Genes BOC and ATP6V1A evaluated as aploinsufficient ",null,1]
[4,"4q21.22(82472552_82843952)x3",371.4,"Desert region","CVS fresh",null,null,"NO reports","also in DVG",1]
[4,"4q32.3q33(169087860_170877182)x1pat",1789.3,"DDX60 (OMIM613974), DDX60L (OMIM616725), PALLD (OMIM608092), CBR4 (OMIM619394), SH3RF1 (OMIM618642), NEK1 (OMIM604588), CLCN3 (OMIM600580), HPF1 (OMIM616614)","CVS fresh",null,null,"1 larger uncertain containing PALLD, NEK1, CLCN3 and SH3RF1 genes considered aplounsufficient",null,2]
[4,"4q34.1(175461388_175967752)x3",506.4,"GLRA3(OMIM600421), ADAM29(OMIM604778) not associated to pathology","CVS fresh",null,null,"3 uncertain (1/3 inherited)","also in DVG",1]
[4,"4q35.1q35.2(186663704_187499602)x3pat",835.9,"SORBS2, TLR3, FAM149A, CYP4V2(OMIM608614, Bietti crystalline corneoretinal dystrophy), KLKB1(OMIM229000, Fletcher factor (prekallikrein) deficiency), F11(OMIM264900, Factor XI deficiency, autosomal dominant), LOC285441, MTNR1A","CVS fresh",null,null,"6 cases: 5 uncertain (3/5 inherited) and 1 benign","1 in DVG",2]
[5,"5p13.3p13.2(33230886_34789800)x3, 5q31.2(137182385_137240956)x3","1559;                 58,6","a) TARS1 (OMIM187790), ADAMTS12 (OMIM606184), RXFP3(OMIM609445), SLC45A2(OMIM606202), AMACR(OMIM604489), C1ATNF3(OMIM612045), RAI14(OMIM606586); b) MYOT(OMIM604103), PKD2L2(OMIM604669)","CVS cultured",null,null,"a) 1 uncertain inherited; b) NO reports","b) also in DGV",1]
[5,"5p13.1p12(42491770_42689824)x3pat",198.1,"GHR(OMIM600946, exons from 2 to 4, 10 total)","CVS fresh",null,null,"7 cases: 5 uncertain (3/5 inherited from a health parent) and 2 benign","also in DVG",1]
[6," 6q26(162514945_163789052)x3",1274.1,"PARK2 (exons from 1 to 4, 12 total. OMIM602544) and gene PACRG (OMIM608437).","CVS fresh","Ahmad A, Nkosi D, Iqbal MA. PARK2 Microdeletion or Duplications Have Been Implicated in Different Neurological Disorders Including Early Onset Parkinson Disease. Genes (Basel). 2023 Feb 27;14(3):600. ","VUS not maternal, father not diagnosed","2 cases: 1 inherited uncertain, 1 inherited likely benign","also in DGV, low frequency and variable expression and penetrance",2]
[7,"7p14.3(31696420_32417025)x3mat",720.6,"PPP1R17(OMIM604088), PDE1C(OMIM602989)","AF cultured",null,null,"2 uncertain not completely overlapping not containing the whole gene PDE1C",null,1]
[7,"7p12.3p12.2(48441853_49844865)x1",1403,"ABCA13(OMIM607807, exons from 39 to 62, 62 total), VWC2(OMIM611108, exons from 1 to 3, 4 total) not associated to pathology, both not complete","CVS fresh",null,null,"1 pathogenetic  ",null,1]
[7,"7q35(145862108_145922619)x1mat",60.5,"CNTNAP2(OMIM604549); included intronic tract between 1 and 2 exons","CVS fresh","Poot M. Intragenic CNTNAP2 Deletions: A Bridge Too Far? Mol Syndromol. 2017 May;8(3):118-130. Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. ",null,"2 cases: 1 inherited likely benign and 1 pathogenetic, both not completely overlapping","also in DGV",1]
[7,"7q35(146282132_146473268)x1pat",191.1,"CNTNAP2(OMIM604549); included only exon 2, 24 exons in toto)","CVS fresh","as above",null,"8 cases: 7 uncertain (2/7 inherited) and 1 likely benign","also in DVG",1]
[7,"7q36.1(150680397_151148062)x1dn",467.7,"NOS3 (OMIM163729), CDK5(OMIM123821) and ASB10 (OMIM615054)","CVS fresh",null,null,"NO reports",null,2]
[8,"8p21.3(20795939_21555882)x3",759.9,"GFRA2(OMIM601956; exons 8 and 9, 9 total) not associated to pathology","AF cultured",null,null,"2 cases: 1 inherited benign and 1 uncertain",null,1]
[8,"8q11.23(53535251_53698729)x3",163.5,"RB1CC1(OMIM606837; exons from 1 to 24)","CVS fresh","Errichiello E, Giorda R, Gambale A, Iolascon A, Zuffardi O, Giglio S. RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism. Mol Genet Genomic Med. 2021 Jan;9(1):e1561.",null,"3 cases: 1 inherited benign, 2 pathogenetic and 3 uncertain (1/3 inherited)","also in DVG",1]
[9," 9p24.3(248261_495819)x3mat",247.6,"DOCK8(OMIM611432; exons from 2 to 48, 48 total), KANK1(OMIM607704; exons from 1 to 3, 15 total)","CVS fresh","Capkova Z, Capkova P, Srovnal J, Adamova K, Prochazka M, Hajduch M. Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants. Mol Genet Genomic Med. 2021 Mar;9(3):e1592.",null,"7 cases: 5 uncertain (1/5 inherited), 1 pathogenetic and 1 likely benign","also in DVG",1]
[9,"9p24.3p24.2(1819252_2337971)x3",518.7,"SMARCA2(OMIM600014; dose-sensitive)","CVS fresh",null,null,"1 uncertain","also in DVG",1]
[9," 9q33.2(123481538_123902969)x1",421.4,"FBXW2(OMIM609071), PSMD5(OMIM604452), PHF19(OMIM609740), TRAF1(OMIM601711), C5(OMIM120900), CNTRL(OMIM605496)","AF fresh",null,null,"NO reports","also in DVG",1]
[10,"10q11.22q11.23(46980161_51507535)x3dn",4527.4,"RBP3(OMIM180290), GDF2(OMIM605120), GDF10(OMIM601361), PTPN20(OMIM610630), FRMPD2(OMIM613323), MAPK8(OMIM601158), ARHGAP22(OMIM610585), WDFY4(OMIM613316), DRGX(OMIM606701), ERCC6(OMIM609413, dose-sensitive), CHAT(OMIM118490, dose-sensitive), SLC18A3(OMIM600336),OGDHL(OMIM617513), PARG(OMIM603501)","CVS cultured",null,null,"2 pathogenetic",null,1]
[11,"11q13.3(69556469_69684731)x3mat",128.3,"FGF4(OMIM164980), FGF3(OMIM164950)","CVS fresh","Grillo L, Greco D, Pettinato R, Avola E, Potenza N, Castiglia L, Spalletta A, Amata S, Di Benedetto D, Luciano D, Romano C, Fichera M. Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis. Gene. 2014 Jan 25;534(2):435-9.",null,"NO reports","also in DVG",1]
[12,"12q21.31(80651132_80716561)x1",65.4,"OTOGL(OMIM614925; exons from 18 to 34, 58 total)","CVS fresh",null,null,"1likely benign  ","also in DVG",1]
[12,"12q24.32(126464810_128738900)x3pat",2274.1,"LINC00939, LINC02359, LINC02825, LINC02350, LINC02347, LOC100996671, LINC00944, LINC00943, LINC02372, LINC02405, LINC02376, LINC02375, LINC02411, LOC105370068, LINC02393, LINC00508, LINC00507, LINC02441, LINC02369, LINC02368 not associated to pathology","CVS fresh","signaled for size, not for gene content",null,"3 uncertain (1/3 inherited) and 1 pathogenetic","also in DVG",2]
[13,"13q12.11(20798488_21062501)x1",264,"GJB6(OMIM604418;the first 4 exons out of 5 total, CRYL1(OMIM609877; from exon 4 to 8, 9 total), MIR4499","CVS fresh","Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur J Hum Genet. 2002 Jan;10(1):72-6. ",null,"3 uncertain","also in DVG",1]
[13,"13q12.12(23547428_24910743)x3mat  ",1363.3,"SGCG (OMIM608896), SACS (OMIM604490) and MIPEP (OMIM602241)","CVS fresh",null,null,"18 cases: 13 uncertain (5 inherited), 1 inherited likely benign, 4 pathogenetic (1 inherited)","also in DVG",2]
[13,"13q12.2(28104004_28521509)x1 mat",417.5,"LNX2 (OMIM609733), POLR1D (OMIM613715), GSX1 (OMIM616542), PDX1 (OMIM600733)","CVS fresco","Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity. Clin Genet. 2023 Feb;103(2):146-155. Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. ",null,"1 uncertain with smaller size (only POLR1D gene included)",null,2]
[13,"13q21.33(70729768_70956191)x1",226.4,"Desert region","CVS fresh",null,null,"NO reports","also in DVG",1]
[14," 14q24.2(72026354_73649804)x1",1623.5,"SIPA1L1(OMIM617504), RGS6(OMIM603894), DPF3(OMIM601672), DCAF4(OMIM616372), ZFYVE1(OMIM605471), RBM25(OMIM612427), PSEN1(OMIM104311; included from exon 1 to 5 out of 12 total)","CVS fresh","Song XW, Zhao F, Yang J, Yuan QN, Zeng ZY, Shen M, Tang Y, Cao M, Shen YF, Li SH, Yang YJ, Wu H, Zhao XX, Hu ST. Cardiovascular-specific PSEN1 deletion leads to abnormalities in calcium homeostasis. Cell Biol Int. 2022 Mar;46(3):475-487. ",null,"NO reports",null,1]
[15,"15q13.3(32029550-32427979)x3mat",398.4,"CHRNA7(OMIM118511)","CVS fresh","OMIM612021: 15q13.3 MICRODELETION SYNDROME",null,"36 cases: 27 uncertain, 7 pathogenetic, 2 likely benign; also reported in DGV. Incomplete penetrance","also in DVG",1]
[15,"15q26.3(99319227_99954143)x3pat",634.9,"part of the IGF1R gene (OMIM147370), from exon 3 to 21, 21 total) coding growth factor insuline-like receptor.","CVS fresh",null,null,"11 cases: 9 unknown (6/9 inherited) and 2 pathogenetic (1/2 inherited)","also in DVG",2]
[15,"15q26.3(100923775_101132946)x3",209.2,"CERS3(OMIM615276), LINS1(OMIM610350, exons from 2 to7, 7 total)","AF cultured",null,null,"1 uncertain inherited","also in DVG",1]
[16,"16p13.3(1374843_2117148)x3dn  ",742.3,"GNPTG (OMIM607838), CLCN7 (OMIM602727), IFT140 (OMIM614620), IGFAL (OMIM601489), MAPK8IP3 (OMIM605431), GFER (OMIM600924), TSC2 (OMIM191092; exons from 1 to 16, 41 total)","CVS fresh","Socha M, Szoszkiewicz A, Simon D, Jamsheer A. A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. J Appl Genet. 2023 Feb;64(1):125-134. ",null,"2 uncertain (one inherited)",null,2]
[16,"16p12.3(16862515_18948904)x1mat",2086.4,"XYLTI(OMIM608124), NOMO2(OMIM609158), RPSI5A(OMIM603674), ARL6IPI(OMIM607669), SMGI(OMIM607032)","CVS fresh",null,null,"2 cases: 1 uncertain and 1 pathogentic","also in DVG",1]
[16,"16q12.1(48167006_48993223)x1mat",826.2,"ABCC12(OMIM607041), ABCC11(OMIM607040), LONP2(OMIM617774), SIAH1(OMIM602212)","CVS fresh",null,null,"NO reports",null,1]
[16," 16q23.3(82139569_82713305)x3",573.7,"MPHOSPH6(OMIM605500), CDH13(OMIM601364; included the first exon out of 14 total, not associated to pathology)","AF cultured",null,null,"1 uncertain inherited","also in DVG",1]
[16,"16q24.3(89844115_89994008)x3",149.9,"FANCA (OMIM607139, exons from 1 to 20, 43 total), SPIRE2 (OMIM609217), TCF25 (OMIM612326), MC1R (OMIM155555), TUBB3 (OMIM602661, exon 1, 4 total)","CVS fresh",null,null,"1 uncertain","also in DVG",1]
[17,"17q25.3(80754141_81152082)x1mat",397.9,"TBCD (OMIM604649 associated to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, included from exon 8 to 39 (last exone)), B3GNTL1 (OMIM615337), METRNL (OMIM616241)","AF fresh","Zhang Y, Zhang L, Zhou S. Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature. Neuropediatrics. 2020 Feb;51(1):68-71. Microtubule dynamics plays a crucial role in neuronal development and function. Variants in the tubulin cofactor D (TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of α/β-tubulin heterodimers, may lead to neurodevelopmental disorders. We aimed to study the clinical, electroencephalographic, and imaging features of a male patient with TBCD variants, and to provide a detailed review of the previously reported cases of TBCD-related neurological disorders. The patient presented with early-onset developmental regression, secondary microcephaly, epilepsy of infancy with migrating focal seizures, hypotonia, and brain atrophy with thin corpus callosum on brain magnetic resonance imaging. ",null,"7 cases: 5 uncertain and 2 pathogenetic (one inherited)","also in DVG",2]
[18,"18p11.32(921697_1461915)x3mat",540.2,"Desert region","AF cultured",null,null,"NO reports","also in DVG",1]
[18,"18p11.21(13882418_13922575)x3",40.2,"MC2R(OMIM607397; exons 1 and 2 out of 2 total; exon 2 interrupted)","CVS cultured",null,null,"1pathogenetic inherited ","also in DVG",1]
[18,"18q23(77276946_77622433)x3",345.5,"NFATC1(OMIM600489; only exon 10 out of 10 total), CTDP1(OMIM604927), KCNG2(OMIM605696)","AF fresh",null,null,"5 cases: 4 uncertain and 1 inherited pathogenetic","also in DVG",1]
[19,"19p13.12(15160778_15169105)x1mat",8.3,"CASP14(OMIM605848; exons from 2 to 7, 7 total)","AF cultured","Kirchmeier P, Zimmer A, Bouadjar B, Rösler B, Fischer J. Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis. Acta Derm Venereol. 2017 Jan 4;97(1):102-104. ",null,"NO reports",null,1]
[21,"21q22.3(47561659_48090317)x3pat",528.7,"FTCD (OMIM606806; exons from 1 to 10, 15 total), LSS (OMIM600909), MCM3AP (OMIM603294) and PCNT (OMIM605925)","CVS fresh","Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Chuang TY, Wang W. Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects. Taiwan J Obstet Gynecol. 2019 Nov;58(6):869-871.",null,"5 cases: 4 uncertain and 1 inherited pathogenetic","also in DVG",2]
[22,"22q12.2(29776586_30058561)x3",282,"AP1B1(OMIM600157; exon 1 out of 21 total), RFPL1S(OMIM605972), RFPL1(OMIM605968), NEFH(OMIM162230), THOC5(OMIM612733), NIPSNAP1(OMIM603249), NF2(OMIM607379; exons from 1 to 8, 16 total)","AF fresh",null,null,"4 cases: 2 uncertain (one inherited) and 2 pathogenetic","also in DVG",1]
[" X","Xp22.31(6705268_7033316)x4",328,"PDUP(OMIM306480; exons from 1 to 4, 5 total), not associated to pathology","CVS fresh",null,null,"only 1 uncertain of a male","also in DVG",1]
[" X"," Xp22.2(9612264_10299995)x3",687.7,"TBL1X(OMIM300196; exons from 4 to 18, 18 total), GPR143(OMIM300808), SHROOM2(OMIM300103), WWC3(OMIM301089), CLCN4(OMIM302910)","CVS fresh",null,null,"2 cases: 1 uncertain in a male patient; 1 pathogenetic in a female patient",null,1]
["X"," Xp11.4(38496296_38576648)x3",80.4,"TSPAN7(OMIM300096; exons from 2 to 8, 8 total)","CVS fresh",null,null,"4 cases: 2 uncertain in male patients and 1 uncertain in a female patient; 1 benign in a patient with sex unknown","also in DVG",1]
["X","Xq13.1(68995116_69383583)x3",388.5,"EDA(OMIM300451; exons from 2 to 8, 8 total), AWAT2(OMIM300925), OTUD6A(OMIM300714), IGBP1(OMIM300139; exons from 1 to 6, 7 total)","CVS fresh",null,null,"1 uncertain in female patient",null,1]
["X"," Xq13.3q21.1(75912621_76625541)x2",712.9,"Desert region","AF fresh",null,null,"1 uncertain in male",null,1]
["X"," Xq13.3q21.1(75912621_76625541)x2",712.9,"Desert region","CVS fresh",null,null,"1 uncertain in male",null,1]
["X","Xq21.2q21.31(86144038_86665356)x4",521.3,"Desert region","CVS fresh",null,null,"3 cases: 1 benign and 1 uncertain: sex unknown; 1 uncertain in male",null,1]
[" X","Xq28(148067474_148543182)x2mat",475.7,"AFF2(FRAXE OMIM300806; exons 20 and 21, 21 total)","CVS fresh","Mondal K, Ramachandran D, Patel VC, Hagen KR, Bose P, Cutler DJ, Zwick ME. Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. Hum Mol Genet. 2012 Oct 1;21(19):4356-64.",null,"6 cases: 5 uncertain, 4 in male and 1 sex unknown (4/5 inherited); 1 benign in a female, inherited from the father ","also in DVG",1]
["Y"," Yq11.221(15704763_16133167)x2",428.4,"TMSB4Y(OMIM400017), VCY(OMIM400012) not associated to pathology","CVS fresh",null,null,"2 cases: 1 uncertain and 1 inherited benign","also in DVG",1]

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["Loss Of Heterozygosity (LOH)"]
["Chr","CGH arry hg19","size (Kb)","genes","tissue","OMIM associated syndrome","observations","Laboratory (Lab)"]
[17,"17q22q23.3(56072660_64080446)x2hmz",8000,"NOG(Brachydactyly, type B2 AD, OMIM602991), DGKE(Nephrotic syndrome, type 7 AR, OMIM601440), VEZF1(?Cardiomyopathy, dilated, 1OO AD, OMIM606747), MPO(Myeloperoxidase deficiency AD, OMIM606989), TSPOAP1(Dystonia 22, juvenile-onset9 AR, OMIM610764), TRIM37(Mulibrey nanism AR, OMIM605073), SMG8(Alzahrani-Kuwahara syndrome AR, OMIM613175), CLTC(Intellectual developmental disorder, autosomal dominant 56, OMIM118955), PTRH2(Infantile-onset multisystem neurologic, endocrine, and pancreatic disease AR, OMIM608625), PPM1D(Jansen-de Vries syndrome AD, OMIM605100), BCAS3(Hengel-Maroofian-Schols syndrome AR, OMIM607470), TBX2(Vertebral anomalies and variable endocrine and T-cell dysfunction AD, OMIM600747), TBX4(Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome AR, Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension AD, OMIM601719), MED13(Intellectual developmental disorder, autosomal dominant 61, OMIM603808), TLK2(Intellectual developmental disorder, autosomal dominant 57, OMIM608439), TANC2(Intellectual developmental disorder with autistic features and language delay, with or without seizures AD, OMIM615047), CYB561(Orthostatic hypotension 2 AR, OMIM600019), ACE(Renal tubular dysgenesis AR, OMIM106180), TACO1(Mitochondrial complex IV deficiency, nuclear type 8 AR, OMIM612958), MAP3K3(Cerebral cavernous malformations 5, OMIM602539), STRADA(Polyhydramnios, megalencephaly, and symptomatic epilepsy AR, OMIM608626), CCDC47(Trichohepatoneurodevelopmental syndrome AR, OMIM618260), GH1(Growth hormone deficiency, isolated, type IA AR, Growth hormone deficiency, isolated, type II AD, Kowarski syndrome R, OMIM139250), SCN4A(Myotonia congenita, atypical, acetazolamide-responsive AD, Congenital myopathy 22A, classic AR, OMIM603967)","CVS fresh",null,"non-consanguineous parents",2]
["X"," Xq13.1q21.1(69815365_82090076)x2 hmz",12300,"XIST (OMIM314670) and other X-linked recessive syndrome associated genes, for example MED12 (OMIM300188), GJB1 (OMIM304040), HDAC8 (OMIM300269), SLC16A2 (OMIM300095), COX7B (OMIM300885), ATP7A (OMIM300011) and TBX22 (OMIM300307)","CVS fresh",null,"non-consanguineous parents",2]