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1
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A0572B
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M/4 years
|
arr[GRCh37] 7q31.1(110978196_111337169)x1
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0.36 Mb deletion
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IMMP2L
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VUS
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Paternally inherited
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High-functioning ASD
|
|
arr[GRCh37] 15q25.2q26.1(84642246_91626219)x1
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6.98 Mb deletion
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ADAMTSL3, UBE2Q2L, GOLGA6L4, ZSCAN2, WDR73, NMB, SEC11A, ZNF592, ALPK3, SLC28A1, PDE8A, GOLGA6L3, AKAP13, KLHL25, AGBL1, NTRK3, MRPL46, MRPS11, DET1, AEN, ISG20, ACAN, HAPLN3, MFGE8, ABHD2, RLBP1, FANCI, POLG, RHCG, TICRR, KIF7, PLIN1, PEX11A, WDR93, MESP1, MESP2, ANPEP, C15orf38, AP3S2, ARPIN, ZNF710, IDH2, SEMA4B, CIB1, GDPGP1, NGRN, ZNF774, IQGAP1, CRTC3, BLM, FURIN, FES, MAN2A2, UNC45A, HDDC3, RCCD1, PRC1, VPS33B
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Pathogenic
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De novo
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|
2
|
AGG0013
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M/18 months
|
arr[GRCh37] 16p11.2(28488491_29046284)x1
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0.56 Mb deletion
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CLN3, APOBR, IL27, NUPR1, SGF29, SULT1A2, SULT1A1, NPIPB8, EIF3C, EIF3CL, NPIP89, ATXN2L, TUFM, SH2B1, ATP2A1, RABEP2, CD19, NFATC21P, SPNS1, LAT
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Pathogenic
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De novo
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GDD, ASD
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|
3
|
AGG0207
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F/32 months
|
arr[GRCh37] Xp22.33(296519_4021220)x1
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3.72 Mb deletion
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PPP2R3B, SHOX, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL, P2RY8, AKAP17A, ASMT, DHRSX, ZBED1, CD99, XG, GYG2, ARSD, ARSE, ARSH, ARSF, MXRA5, PRKX
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Pathogenic
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Not maternally inherited
|
Short stature, GDD, ASD
|
|
4
|
AGG0238
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M/29 months
|
arr(X)x2,(Y)x1
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XXY
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(Klinefelter syndrome)
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Pathogenic
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De novo
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Developmental language delay, ASD with ADHD features
|
|
5
|
AGG0318
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F/26 months
|
arr[GRCh37] 1q44(246807340_249208105)x1
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2.40 Mb deletion
|
CNST, SCCPDH, AHCTF1, ZNF695, ZNF670, ZNF669, C1orf229, ZNF124, VN1R5, ZNF496, NLRP3, GCSAML, TRIM58, LYPD8, SH3BP5L, ZNF672, ZNF692, PGBD2
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Pathogenic
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Inheritance not known; unbalanced translocation t(1;8)
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ASD
|
|
arr[GRCh37] 8q24.22q24.3(135567463_146304022)x3
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10.76 Mb duplication
|
ZFAT, KHDRBS3, FAM135B, COL22A1, KCNK9, TRAPPC9, CHRAC1, AGO2, PTK2, DENND3, SLC45A4, GPR20, PTP4A3, MROH5, TSNARE1, ADGRB1, ARC, JRK, PSCA, LY6K, THEM6, SLURP1, LYPD2, LYNX1, LY6D, GML, CYP11B1, CYP11B2, LY6E, C8orf31, LY6H, GPIHBP1, ZFP41, GLI4, ZNF696, TOP1MT, RHPN1, MAFA, ZC3H3, GSDMD, MROH6, NAPRT, EEF1D, TIGD5, PYCRL, TSTA3, ZNF623, ZNF707, CCDC166, MAPK15, FAM83H, SCRIB, PUF60, NRBP2, EPPK1, PLEC, PARP10, GRINA, SPATC1, OPLAH, EXOSC4, GPAA1, CYC1, SHARPIN, MAF1, WDR97, HGH1, BOP1, SCX, HSF1, DGAT1, SCRT1, TMEM249, FBXL6, SLC52A2, ADCK5, CPSF1, SLC39A4, VPS28, TONSL, CYHR1, KIFC2, FOXH1, PPP1R16A, GPT, MFSD3, RECQL4, LRRC14, LRRC24, C8orf82, ARHGAP39, ZNF251, ZNF34, RPL8, ZNF517, ZNF7, COMMD5, ZNF250, ZNF16, C8orf33
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Pathogenic
|
|
6
|
AGG0126
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M/29 months
|
arr[GRCh37] 6q26(162621987_163095834)x3
|
0.47 Mb duplication
|
PARK2
|
likely pathogenic
|
De novo
|
Speech delay; ASD; Hypospadias
|
|
7
|
AGG0128
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M/23 months
|
arr[GRCh37] 16p13.11(15125758_16287903)x3
|
1.16 Mb duplication
|
PDXDC1, NTAN1, RRN3, MPV17L, C16orf45, KIAA0430, NDE1, MYH11, FOPNL, ABCC1, ABCC6
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Pathogenic
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Maternally inherited
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ASD
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|
8
|
AGG0228
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M/17 years
|
arr[GRCh37] 16p13.11(15125758_16287903)x3
|
1.16 Mb duplication
|
PDXDC1, NTAN1, RRN3, MPV17L, C16orf45, KIAA0430, NDE1, MYH11, FOPNL, ABCC1, ABCC6
|
Pathogenic
|
Inheritance not known
|
Epilepsy; GDD; ASD
|
|
9
|
AGG0437
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M/29 months
|
arr[GRCh37] 11p11.2(48103669_48388756)x2~3
|
0.29 Mb duplication (mosaic)
|
PTPRJ, OR4B1, OR4X2, OR4ZX1, OR4S1, OR4C3, OR4C45
|
Pathogenic
|
Inheritance not known
|
ASD
|
|
arr[GRCh37] 11q12.1q12.2(55896790_61443324)x2~3
|
5.55 Mb duplication (mosaic)
|
LRRC55, APLNR, TNKS1BP1, SSRP1, P2RX3, PRG3, PRG2, SLC43A3, RTN4RL2, SLC43A1, TIMM10, SMTNL1, UBE2L6, SERPING1, TPEL4, CLP1, ZDHHC5, MED19, TMX2
.
C11orf31, BTBD18, CTNND1, LPXN, ZFP91, CNTF, GLYAT, GLYATL2, AK294973, GLYALT1, FAM111B, FAM111A, DTX4, MPEG1, OSBP, PATL1, STX3, MRPL16, GIF, TCN1, AB231702, PLAC1L, CCDC86, PTGDR2, ZP1
,
PRPF19, TMEM109, TMEM132A, SLC15A3, CD6, VPS37C, PGA3, PGA4, PGA5, VWCE, DDB1, TKFC, CYB561A3, TMEM138, TMEM216, CPSF7, SDHAF2, PPP1R32, LRRC10B, ZYT7
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Pathogenic
|
Inheritance not known
|
