2 |
DAS |
del |
12p12.1-p12.2 |
1 |
20.994.908 |
21.415.634 |
421 |
SLCO1B3, SLCO1B7, SLCO1B1
|
+ |
+ |
Sim |
3 |
DAS |
dup |
15q22.2 |
3 |
62.209.640 |
62.543.660 |
334 |
VPS13
C, C2CD4A, C2CD4B
|
- |
+ |
NR |
8 |
ToF, AAI |
del |
16p11.2 |
1 |
29.567.295 |
30.177.916 |
611 |
SLC7A5P1, SPN, QPRT, ZG16, KIF22, MAZ, PRRT2, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, FAM57B, ALDOA, PPP4
C, TBX6, YPEL3, GDPD3, MAPK3
|
+ |
+ |
Sim |
13 |
TA |
dup |
8p11.1-p11.21 |
3 |
42.935.729 |
43.776.564 |
841 |
FNTA, SGK196, HGSNAT, POTEA
|
+ |
+ |
Sim |
14 |
DSV, DAS, AP |
del |
10q25.1 |
1 |
110.420.129 |
111.116.531 |
696 |
RNU6-53, MAPKAPK5P1-001
|
- |
+ |
Sim |
19 |
DSV |
dup |
Yp11.2 |
2 |
9.664.007 |
9.997.425 |
333 |
TTTY23, TTTY23B
|
- |
+ |
NR |
20 |
DAS, PDA, AP |
dup |
2q13 |
3 |
110.504.318 |
111.365.996 |
862 |
RGPD5, RGPD6, LIMS3, LIMS3L, LIMS3-LOC440895, LOC440895, LOC100288570, LOC440894, MIR4267, MALL, MIR4436B2, MIR4436B1, NPHP1, LINC00116, LOC100507334, LOC151009
|
- |
+ |
Sim |
21 |
DAS |
dup |
7q21.13 |
3 |
88.819.024 |
89.678.695 |
860 |
ZNF804B
|
+ |
+ |
Sim |
24 |
DAS, TA, AP |
del |
16p11.1-p11.2 |
1 |
34.197.616 |
35.158.405 |
961 |
UBE2MP1, LOC283914, LOC146481, LOC100130700, RN5S411, FLJ26245
|
- |
- |
Sim |
26 |
VAB |
del |
17q12 |
1 |
34.477.385 |
36.283.612 |
1.806 |
TBC1D3B, CCL3L3, CCL3L1, CCL4L2, CCL4L1, TBC1D3
C, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, MIR2909, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B, LOC284100
|
- |
+ |
Sim |
29 |
PCA |
del |
5p15.1-p15.33 |
1 |
113.576 |
17.511.896 |
17.398 |
PLEKHG4B, LRRC14B, CCDC127, SDHA, PDCD6, AHRR, C5orf55, EXOC3, PP7080, SLC9A3, MIR4456, CEP72, TPPP, ZDHHC11, BRD9, TRIP13, LOC100506688, NKD2, SLC12A7, MIR4635, SLC6A19, SLC6A18, TERT, MIR4457, CLPTM1L, SLC6A3, LPCAT1, SDHAP3, LOC728613, MIR4277, MRPL36, NDUFS6, IRX4, IRX2, C5orf38, LOC285577, IRX1, LOC340094, ADAMTS16, KIAA0947, FLJ33360, MED10, UBE2QL1, LOC255167, NSUN2, SRD5A1, PAPD7, MIR4278, MIR4454, LOC442132, ADCY2, C5orf49, FASTKD3, MTRR, LOC729506, LOC100505738, MIR4458, SEMA5A, MIR4636, LOC100505806, SNORD123, TAS2R1, LOC285692, FAM173B, CCT5, CMBL, MARCH6, ROPN1L, ANKRD33B, DAP, CTNND2, TAG, DNAH5, TRIO, FAM105A, FAM105B, ANKH, LOC100130744, MIR4637, FBXL7, MARCH11, ZNF622, FAM134B, MYO10, LOC285696, BASP1, LOC401177
|
- |
+ |
NR |
30 |
DAS |
dup |
5q33.2 |
3 |
154.330.014 |
154.664.212 |
334 |
MRPL22, KIF4B
|
- |
- |
NR |
35 |
ToF, AP, PLSVC |
dup |
15q21.1 |
3 |
48.023.616 |
49.017.024 |
993 |
SEMA6D, SLC24A5, MYEF2, CTXN2, SLC12A1, DUT, FBN1
|
- |
+ |
Sim |
40 |
ToF, AP, DAS, PVCSE |
dup |
3q26.2 |
3 |
168.485.398 |
170.468.489 |
1.983 |
EGFEM1P, MECOM, TERC, ACTRT3, MYNN, LRRC34, LRRIQ4, LRRC31, SAMD7, LOC100128164, SEC62, GPR160, PHC3, PRKCI, SKIL, CLDN11, SLC7A14
|
- |
+ |
Sim |
52 |
ToF, AP, DAS |
dup |
2p22.3 |
3 |
32.628.617 |
33.334.307 |
706 |
BIRC6, MIR558, TTC27, MIR4765, LINC00486, LOC100271832, LTBP1
|
+ |
+ |
Sim |
58 |
ToF, AP |
dup |
6q14.3 |
3 |
87.387.316 |
87.921.049 |
534 |
HTR1E, CGA, ZNF292
|
- |
+ |
Sim |
59 |
ToF, AP, MVP |
dup |
16q23.1 |
3 |
77.923.068 |
78.596.237 |
673 |
VAT1L, CLEC3A, WWOX
|
- |
+ |
Sim |
63 |
ToF, AP |
dup |
3p26.3 |
3 |
1.750.535 |
2.205.306 |
455 |
CNTN4, CNTN4-AS2
|
+ |
+ |
Sim |
67 |
ToF |
dup |
3p26.3 |
3 |
1.775.844 |
2.158.248 |
382 |
CNTN4, CNTN4-AS2
|
+ |
+ |
Não |
71 |
ToF |
del |
10q22.3-q23.2 |
1 |
81.446.577 |
89.253.430 |
7.807 |
LOC650623, LOC642361, LOC100288974, MBL1P, SFTPD, LOC219347, C10orf57, PLAC9, ANXA11, LOC439990, MAT1A, DYDC1, DYDC2, FAM213A, TSPAN14, SH2D4B, NRG3, GHITM, C10orf99, CDHR1, LRIT2, LRIT1, RGR, LOC170425, FAM190B, GRID1-AS1, GRID1, MIR346, WAPAL, OPN4, LDB3, BMPR1A, MMRN2, SNCG, C10orf116, AGAP11, FAM25A, GLUD1, FAM35A, FAM22A, LOC728190, LOC439994, FAM22D, LOC728218
|
- |
+ |
Sim |
72 |
DAS, AP, ASD, TGA |
dup |
2p24.3-p25.3 |
3 |
12.770 |
14.851.012 |
14.838 |
FAM110
C, SH3YL1, ACP1, FAM150B, TMEM18, LOC339822, SNTG2, TPO, PXDN, MYT1L, LOC730811, TSSC1, TRAPPC12, ADI1, RNASEH1, LOC100506054, RPS7, COLEC11, ALLC, LOC100505964, LOC727982, SOX11, LOC150622, LOC400940, LINC00487, CMPK2, RSAD2, LOC386597, RNF144A, LOC100506274, LOC339788, LINC00299, ID2, KIDINS220, MBOAT2, ASAP2, ITGB1BP1, CPSF3, IAH1, ADAM17, YWHAQ, TAF1B, GRHL1, KLF11, CYS1, RRM2, C2orf48, MIR4261, HPCAL1, ODC1, SNORA80B, NOL10, ATP6V1C2, PDIA6, KCNF1, FLJ33534, C2orf50, PQLC3, ROCK2, LINC00570, E2F6, GREB1, MIR4429, NTSR2, LPIN1, MIR4262, TRIB2, MIR3125, LOC100506474, FAM84A
|
- |
+ |
Sim |
|
|
del |
4q35.1-q35.2 |
1 |
186.464.011 |
190.957.473 |
4.493 |
SORBS2, TLR3, FAM149A, FLJ38576, CYP4V2, KLKB1, F11, LOC285441, MTNR1A, FAT1, LOC339975, ZFP42, TRIML2, TRIML1, LOC401164, HSP90AA4P, FRG1, LOC100288255, FRG2
|
- |
+ |
Sim |
|
|
del |
16p12.2 |
1 |
21.576.802 |
21.951.415 |
375 |
METTL9, IGSF6, OTOA, RRN3P1
|
+ |
+ |
Sim |
77 |
DSV, AP, DAS, PVCSE |
del |
8p23.1 |
1 |
8.093.065 |
11.935.465 |
3.842 |
FLJ10661, SGK223, CLDN23, MFHAS1, ERI1, MIR4660, PPP1R3B, LOC157273, TNKS, MIR597, LINC00599, MIR124-1, MSRA, PRSS55, RP1L1, C8orf74, SOX7, PINX1, MIR1322, XKR6, MIR598, MTMR9, SLC35G5, TDH, C8orf12, FAM167A, BLK, LINC00208, GATA4, NEIL2, FDFT1, CTSB, DEFB136, DEFB135, DEFB134, LOC100133267, DEFB130
|
- |
+ |
VA |
78 |
VAB, EA, SV |
del |
22q13.33 |
1 |
50.100.435 |
51.197.838 |
1.097 |
BRD1, LOC90834, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB-CPT1B, CHKB, LOC100144603, MAPK8IP2, ARSA, SHANK3, ACR, RPL23AP82
|
- |
+ |
VA |