27 |
arr 1p35.3 x1 |
chr1:28245805-28753654 |
507850 |
DEL |
MED18,
SNHG12, RNU11, TRNAU1AP, RCC1, SNHG3, SNHG3-RCC1, RAB42, SNORA44,
PHACTR4, GMEB1, SNORD99, TAF12, SNORA16A, SESN2, TRNAU1AP, SNORA61,
YTHDF2 |
VOUS |
23 |
arr 2p16.3 x1 |
chr2:398808-1287541 |
881512 |
DUP |
ABCA7, ARID3A,
ATP5D, AZU1, BSG, C19orf20, C19orf21, C19orf22, C19orf23, C19orf24,
C19orf26, C19orf6, CDC34, CFD, CIRBP, CNN2, EFNA2, ELANE, FGF22, FSTL3,
GPX4, GRIN3B, GZMM, HCN2, HMHA1, MADCAM1, MED16, MIDN, ODF3L2, PALM,
POLR2E, POLRMT, PRG2, PRSSL1, PRTN3, PTBP1, RNF126, SBNO2, SHC2, STK11,
WDR18, KISS1R |
VOUS |
24 |
arr 3p21.31 x3 |
chr3:45789949-46439467 |
649517 |
DUP |
CCR9,
CCR1, CCR3, CCRL2, LZTFL1, XCR1, FYCO1, CCR5, CXCR6, SLC6A20, LTF |
VOUS |
23 |
arr 5p15.2 x3 |
chr5:10855222-11406627 |
551405 |
DUP |
CTNND2 |
VOUS |
24 |
arr 6p25.1p24.3 x3 |
chr6:6898829-7511849 |
613020 |
DUP |
RREB1,
CAGE1, SSR1, RIOK1 |
VOUS |
23 |
arr 7q11.23 x1 |
chr7:74194985-74701057 |
506072 |
DEL |
CLIP2,
GTF2IRD1, LAT2, RFC2, GTF2I |
VOUS |
35 |
arr 7p12.3 x3 |
chr7:48088308-48659125 |
650946 |
DUP |
UPP1,
ABCA13, C7orf57, SUNC1 |
VOUS |
20 |
arr 7p21.1 x3 |
chr7:18999800-19353210 |
353410 |
DUP |
RPSAP58,
ZNF681, LOC100101266, ZNF675, ZNF254 |
VOUS |
24 |
arr 10q23.3 x3 |
chr10:88908456-89458227 |
549771 |
DUP |
ACTA2,
FAS, IFIT2, LIPA, IFIT1, CH25H, IFIT1L, IFIT3, STAMBPL1, SLC16A12 |
VOUS |
23 |
arr 10q22.1 x3 |
chr10:70693170-71216306 |
523137 |
DEL |
ADAMTS14,
TBATA, SGPL1, PCBD1, UNC5B |
VOUS |
24 |
arr 11p13 x3 |
chr11:33026980-33613990 |
587010 |
DUP |
CSTF3,
LOC283267, TCP11L1, HIPK3, C11orf41, DEPDC7 |
VOUS |
27 |
arr 4q32.3q35.2 x1 |
chr4:164762764-171448183 |
6685419 |
DEL |
AADAT, ANXA10, C4orf27, C4orf39, CBR4, CLCN3, CPE, DDX60, DDX60L, GK3P,
KLHL2, MFAP3L, NEK1, PALLD, SC4MOL, SH3RF1, SPOCK3, TLL1, TRIM60,
TRIM61, TRIM75, TMEM192 |
Pathogenic |
|
arr 17p13.3 x3 |
chr17:150721-2961603 |
2810882 |
DEL |
YWHAE,
PAFAH1B1, PITPNA, PRPF8, SMG6, MNT |
Pathogenic |
23 |
arr 16p13.11p12.3 |
chr16:15388064-18463342 |
3075278 |
DUP |
ABCC1, ABCC6, C16orf45, C16orf63, KIAA0430, LOC339047, MPV17L, MYH11,
NDE1, NOMO2, NOMO3, XYLT1 |
Pathogenic |
34 |
|
|
|
|
|
|
20 |
arr 17q12 x3; |
chr17:37084992-38747513 |
1662521 |
DUP |
AATF,
ACACA, AP1GBP1, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1,
LOC284100, MRM1, MYO19, PIGW, TADA2L, TBC1D3, TBC1D3D, TBC1D3E, TBC1D3F,
ZNHIT3 |
Pathogenic |
27 |
arr 18p11.21 x3 |
chr18:13584400-14770947 |
1186547 |
DUP |
ANKRD30B, C18orf1, C18orf19, CXADRP3, LOC284233, MC2R, MC5R, POTEC,
RNMT, ZNF519 |
Pathogenic |
28 |
arr 19q13.12 x3 |
chr19:52003118-52527157 |
524039 |
DUP |
ZNF610,
ZNF528, LOC400713, ZNF616, PPP2R1A, ZNF614, ZNF836, ZNF841, ZNF432,
ZNF534, ZNF766, ZNF480, ZNF615 |
VOUS |
31 |
arr 19q13.12 x3 |
chr19:36779213-37304888 |
525675 |
DUP |
ZNF790,
ZNF345, ZNF829, ZNF568, ZNF420, ZNF585A, ZNF585B, ZNF383 |
VOUS |
29 |
arr 19p13.3 x3 |
chr19:422237-1310137 |
887899 |
DUP |
GRIN3B,
ABCA7, ARID3A, ATP5D, AZU1, BSG, C19orf20, C19orf21, C19orf22, C19orf23,
C19orf24, C19orf26, C19orf6, CDC34, CFD, CIRBP, CNN2, EFNA2, ELANE,
FGF22, FSTL3, GPX4, GZMM, HCN2, HMHA1, KISS1R, MADCAM1, MED16, MIDN,
PALM, POLR2E, POLRMT, PRG2, PRSSL1, PRTN3, PTBP1, RNF126, SBNO2, STK11,
WDR18 |
VOUS |
40 |
|
chr19:490414-1310137 |
819722 |
|
|
|
21 |
arr 21q21.3 x3 |
chr21:26867843-28045871 |
1178028 |
DUP |
C21orf94, ADAMTS5, NCRNA00113 |
VOUS |
37 |
arr 22q11.21 x1 |
chr22:19941772-22169126 |
2227354 |
DEL |
ARVCF,
C22orf25, C22orf29, C22orf39, CDC45L, CLDN5, CLTCL1, COMT, DGCR10,
DGCR11, DGCR14, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, GNB1L, GP1BB,
GSC2, HIRA, KLHL22, LOC150185, LOC150197, MAPK1, MED15, MRPL40, PI4KA,
PI4KAP1, POM121L4P, PRODH, RANBP1, RIMBP3, RTN4R, SCARF2, SEPT5,
SERPIND1, SLC25A1, TBX1, TMEM191A, TRMT2A, TSSK2, TXNRD2, UFD1L, ZDHHC8,
ZNF74 |
Pathogenic |
33 |
arr 22q11.21 x3 |
chr22:18760914-20280182 |
1519268 |
DUP |
C22orf39, CDC45L, CLDN5, CLTCL1, COMT, DGCR10, DGCR11, DGCR14, DGCR2,
DGCR5, DGCR6, DGCR8, DGCR9, GGT3P, GNB1L, GP1BB, GSC2, HIRA, LOC150185,
LOC150197, MRPL40, PRODH, RANBP1, RTN4R, SEPT5, SLC25A1, TBX1, TRMT2A,
TSSK2, TXNRD2, UFD1L, ZDHHC8 |
Pathogenic |
36 |
arr 22q11.21q11.23 x1 |
chr22:19941772-22169126 |
2227354 |
DEL |
AIFM3, ARVCF, BCR, C22orf25, C22orf29, C22orf39, CCDC116, CDC45L, CLDN5,
CLTCL1, COMT, CRKL, DGCR10, DGCR11, DGCR14, DGCR2, DGCR5, DGCR6, DGCR6L,
DGCR8, DGCR9, FLJ39582, GGTLC2, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA,
KLHL22, LOC150185, LOC150197, LOC400891, LOC648691, LOC96610, LZTR1,
MAPK1, MED15, MGC16703, MRPL40, P2RX6, P2RX6P, PI4KA, PI4KAP1, PI4KAP2,
POM121L1P, POM121L4P, POM121L8P, PPIL2, PPM1F, PRAME, PRODH, RAB36,
RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RTDR1, RTN4R, SCARF2, SDF2L1, SEPT5,
SERPIND1, SLC25A1, SNAP29, TBX1, THAP7, TMEM191A, TOP3B, TRMT2A, TSSK2,
TXNRD2, UBE2L3, UFD1L, VPREB1, YDJC, YPEL1, ZDHHC8, ZDHHC8P, ZNF280A,
ZNF280B, ZNF74, SLC7A4 |
Pathogenic |