microdeletion 1p36 | – | 607872 | 1pter-p36.31 | 1 | 0 | 5309 | 5309 |
microdeletion 1p36 (GABRD) | microduplication 1p36 (GABRD) | 613060 | 1pter-p36.3 | 1 | 0 | 10000 | 10000 |
– | microduplication 1p34.1 | – | 1p34.1 | 1 | 45591 | 46808 | 1217 |
microdeletion 1p32.2 | – | 613735 | 1p32.2 | 1 | 55500 | 60900 | 5400 |
microdeletion 1p21.3 | – | – | 1p21.3 | 1 | 97320 | 99250 | 1930 |
microdeletion 1q21.1 | microduplication 1q21.1 | 612475 | 1q21.1 | 1 | 144980 | 146343 | 1363 |
thrombocytopenia-absent radius syndrome/TAR | – | 274000 | 1q21.1 | 1 | 144150 | 144427 | 277 |
deletion 1q21.1 (GJA5) | duplication 1q21.1 (GJA5) | 121013 | 1q21.1 | 1 | 145040 | 145860 | 820 |
microdeletion 1q24q25 | – | – | 1q24.3q25.1 | 1 | 170135 | 172099 | 1964 |
microdeletion 1q24.3 | – | – | 1q24.3 | 1 | 170000 | 170600 | 600 |
Van der Waude syndrome/VWS1 | – | 119300 | 1q32.2-q41 | 1 | 207709 | 208277 | 568 |
microdeletion 1q41–42 | – | 612530 | 1q41-q42 | 1 | 221135 | 221775 | 640 |
corpus callosum agenesis microdeletion | – | 612337 | 1q44 | 1 | 242576 | 242936 | 360 |
– | microduplication 2p25.3 | – | 2p25.3 | 2 | 3250 | 3450 | 200 |
Feingold syndrome/FS | – | 164280 | 2p24.3 | 2 | 15999 | 16005 | 6 |
hypotonia-cystinuria syndrome/HCS | – | 606407 | 2p21 | 2 | 44384 | 44442 | 58 |
holoprosencephaly 2/HPE2 | – | 157170 | 2p21 | 2 | 45022 | 45026 | 4 |
– | microduplication 2p21 | – | 2p21 | 2 | 45200 | 45900 | 700 |
NRXN1 microdeletion | NRXN1 microduplication | 600565 | 2p16.3 | 2 | 50011 | 50437 | 426 |
microdeletion 2p15–16.1 | – | 612513 | 2p15–16.1 | 2 | 57537 | 61534 | 3997 |
microdeletion 2p14-p15 | – | 612513 | 2p14–15 | 2 | 63756 | 65377 | 1621 |
microdeletion 2p11.2-p12 | – | 613564 | 2p11.2-p12 | 2 | 77597 | 87091 | 9494 |
microdeletion 2q11.2 (LMAN2L, ARID5A) | – | – | 2q11.2 | 2 | 96090 | 97040 | 950 |
mesomelic dysplasia/MMD | – | 605274 | 2q11.2 | 2 | 99530 | 100125 | 595 |
microdeletion 2q11.2q13 (NCK2, FHL2) | microduplication 2q11.2q13 (NCK2, FHL2) | 602633/604930 | 2q11.2q13 | 2 | 100060 | 107810 | 7750 |
nephronophthisis 1/NPHP1 | microduplication 2q11.2q13 | 256100 | 2q13 | 2 | 110293 | 110320 | 27 |
microdeletion 2q13 | microduplication 2q13 | – | 2q13 | 2 | 111050 | 112950 | 1900 |
autism-dyslexia microdeletion 2q14.3 | microduplication 2q14.3 (own case) | – | 2q14.3 | 2 | 124500 | 125500 | 1000 |
Mowat–Wilson syndrome/MWS | – | 235730 | 2q22.3 | 2 | 144900 | 144994 | 94 |
microdeletion 2q23.1 | – | 156200 | 2q23.1 | 2 | 148964 | 149150 | 186 |
microdeletion 2q23.3q24.1 | – | 156200 | 2q23.3-q24.1 | 2 | 153150 | 156930 | 3780 |
microdeletion 2q24.3 | neonatal epilepsy microduplication | 607208/604403 | 2q24.2-q24.3 | 2 | 165133 | 166562 | 1429 |
synpolydactyly 1/SPD1 | microduplication 2q31.1 | 613681 | 2q31.1 | 2 | 176659 | 177679 | 1020 |
microdeletion 2q31.2-q32.3 | – | 612345 | 2q31.2-q32.2 | 2 | 177640 | 191380 | 13740 |
microdeletion 2q33.1 | – | 612313 | 2q33.1 | 2 | 196538 | 204915 | 8377 |
brachydactyly-mental retardation syndrome/BDMR | – | 600430 | 2q37 | 2 | 239620 | 242951 | 3331 |
distal 3p deletion | – | 613792 | 3p25-p26 | 3 | 0 | 6995 | 6995 |
Von Hippel Lindau disease/VHL | – | 193300 | 3p25-p26 | 3 | 10158 | 10169 | 11 |
microdeletion 3p21.31 | – | – | 3p21.31 | 3 | 49120 | 52220 | 3100 |
microdeletion 3p14.1p13 | – | 605515 | 3p14.1-p13 | 3 | 71164 | 71959 | 795 |
microdeletion 3p11.1p12.1 | – | – | 3p11.2-p12.1 | 3 | 87069 | 87408 | 339 |
proximal 3q microdeletion syndrome | – | – | 3q13.11-q13.12 | 3 | 106400 | 108900 | 2500 |
microdeletion 3q13.31 | – | – | 3q13.31 | 3 | 115335 | 115916 | 581 |
blepharophimosis, ptosis, and epicanthus inversus syndrome/BPES | – | 110100 | 3q23 | 3 | 140146 | 140148 | 2 |
Dandy–Walker syndrome/DWS | – | 220200 | 3q24 | 3 | 148610 | 148617 | 7 |
microdeletion 3q27.3q29 | – | – | 3q27.3-q29 | 3 | 188870 | 198080 | 9210 |
microdeletion 3q29 | microduplication 3q29 | 609425/611936 | 3q29 | 3 | 197126 | 198982 | 1856 |
Wolf–Hirschhorn syndrome/WHS | microduplication 4p16.3 | 194190 | 4pter-p16.3 | 4 | 0 | 2043 | 2043 |
– | microduplication 4p16.1 | – | 4p16.1 | 4 | 9450 | 10450 | 1000 |
microdeletion 4p15.3 | – | – | 4p15.3 | 4 | 16583 | 20747 | 4164 |
microdeletion 4q21.21q21.22 | – | 613509 | 4q21.21q21.22 | 4 | 81950 | 83350 | 1400 |
microdeletion 4q21 | – | 613509 | 4q21 | 4 | 82228 | 83601 | 1373 |
microdeletion 4q21.2q21.3 | – | – | 4q21.2-q21.3 | 4 | 89148 | 89218 | 70 |
– | Parkinson disease/PARK1 | 163890/168601 | 4q22.1 | 4 | 90747 | 91018 | 271 |
Rieger type 1/RIEG1 | – | 180500 | 4q25 | 4 | 111758 | 111779 | 21 |
– | 4q32.1-q32.2 Triple/Duplication syndrome | 613603 | 4q32.1q32.2 | 4 | 157356 | 161615 | 4259 |
Cri–du-Chat syndrome/CdCS | – | 123450 | 5p15.2-p15.33 | 5 | 0 | 11777 | 11777 |
Cornelia de Lange syndrome/CDLS | NIPBL microduplication | 613174 | 5p13.2 | 5 | 36997 | 37033 | 36 |
spinal muscular atrophy/SMA | – | 253300 | 5q13.2 | 5 | 70278 | 70286 | 8 |
microdeletion 5q14.3 | – | 600662 | 5q14.3 | 5 | 86142 | 86413 | 271 |
microdeletion 5q14.3-q15 | – | 612881 | 5q14.3-q15 | 5 | 88400 | 90090 | 1690 |
familial adenomatous polyposis/FAP | – | 175100 | 5q22.2 | 5 | 112129 | 112249 | 120 |
– | adult-onset autosomal dominant leukodystrophy/ADLD | 169500 | 5q23.2 | 5 | 126046 | 126233 | 187 |
PITX1 microdeletion | – | 602149 | 5q31.1 | 5 | 134222 | 134463 | 241 |
microdeletion 5q31.3 | – | – | 5q31.3 | 5 | 139117 | 141682 | 2565 |
– | Pseudo trisomy 13 syndrome | 264480 | 5q35.1 | 5 | 170222 | 171584 | 1362 |
microdeletion 5q35.1 | – | – | 5q35.1 | 5 | 172592 | 172595 | 3 |
parietal foramina/PFM | – | 168500 | 5q35.2 | 5 | 174084 | 174091 | 7 |
Sotos syndrome | microduplication 5q35 | 117550 | 5q35.2-q35.3 | 5 | 175063 | 177389 | 2326 |
microdeletion 6p | – | 612582 | 6p25 | 6 | 0 | – | |
microdeletion 6p22.3 | – | – | 6p22.3 | 6 | 20850 | 21250 | 400 |
adrenal hyperplasia/AH | – | 201910 | 6p21.32 | 6 | 32114 | 32117 | 3 |
microdeletion 6p21.31 | – | – | 6p21.31 | 6 | 33273 | 34086 | 813 |
microdeletion 6q13–14 | – | 613544 | 6q13–14 | 6 | 72650 | 76310 | 3660 |
Prader–Willi like | – | 176270 | 6q16.2 | 6 | 100943 | 101018 | 75 |
– | transient neonatal diabetes mellitus 1/TNDM1 | 601410 | 6q24.2 | 6 | 144303 | 144427 | 124 |
microdeletion 6q25.2-q25.3 | – | 612863 | 6q25.2-q25.3 | 6 | 155500 | 158853 | 3353 |
PARK2 microdeletion | PARK2 microduplication | 602544 | 6q26 | 6 | 161688 | 162784 | 1096 |
microdeletion 6q27 anosmia | Chondroma/CHDM | 215400 | 6q27 | 6 | 165554 | 170762 | 5208 |
Saethre–Chotzen syndrome/SCS | – | 101400 | 7p21.1 | 7 | 19121 | – | |
Greig cephalopolysyndactyly/GCPS | – | 175700 | 7p14.1 | 7 | 41967 | 42243 | 276 |
Williams–Beuren syndrome/WBS | microduplication 7q11.23 | 609757/194050 | 7q11.23 | 7 | 71971 | 74255 | 2284 |
WBS-distal deletion (RHBDD2, HIP1) | – | 613729 | 7q11.23 | 7 | 74800 | 76500 | 1700 |
split hand/foot malformation 1/SHFM1 | – | 183600/220600 | 7q21.3 | 7 | 95370 | 96619 | 1249 |
microdeletion 7q22.1-q22.3 | – | – | 7q22.1-q22.3 | 7 | 101040 | 104560 | 3520 |
autism/dyslexia microdeletion 7q31.1 | – | – | 7q31.1 | 7 | 110654 | 111266 | 612 |
speech-language-disorder 1/SPCH1 | – | 602081 | 7q31 | 7 | 114085 | 114090 | 5 |
holoprosencephaly 3/HPE3 | – | 142945 | 7q36.3 | 7 | 155288 | 155298 | 10 |
– | triphalangeal thumb polysyndactyly syndrome/TPTS | 174500 | 7q36.3 | 7 | 155836 | 156425 | 589 |
Currarino syndrome/CS | – | 176450 | 7q36.3 | 7 | 156490 | 156496 | 6 |
microdeletion 8p23.1 | microduplication 8p23.1 | 179613 | 8p23.1 | 8 | 8156 | 11803 | 3647 |
microdeletion 8p21.2 | – | – | 8p21.2 | 8 | 20750 | 24390 | 3640 |
microdeletion 8p12p21 | – | – | 8p12p21 | 8 | 24500 | 31300 | 6800 |
– | microduplication 8q11.23 | 610928 | 8q11.23 | 8 | 53450 | 54050 | 600 |
CHARGE syndrome | microduplication 8q12 | 214800 | 8q12.2 | 8 | 61754 | 61942 | 188 |
microdeletion 8q12.3q13.2 | – | – | 8q12.3-q13.2 | 8 | 65450 | 69020 | 3570 |
mesomelia-synostoses syndrome/MSS | – | 600383 | 8q13 | 8 | 70541 | 70908 | 367 |
microdeletion 8q21.11 | – | 614230 | 8q21.11 | 8 | 77389 | 77929 | 540 |
nablus mask-like facial syndrome/NMLFS | – | 608156 | 8q21.3-q22.1 | 8 | 93210 | 97940 | 4730 |
microdeletion 8q22.2q22.3 | – | – | 8q22.2-q22.3 | 8 | 100690 | 104560 | 3870 |
Langer–Giedion syndrome/LGS | – | 150230 | 8q24.11 | 8 | 118881 | 119193 | 312 |
sex reversal syndrome 4/SRXY4 | – | 154230 | 9p24.3 | 9 | 0 | 1048 | 1048 |
monosomy 9p syndrome | – | 158170 | 9pter-p22.3 | 9 | 0 | 16168 | 16168 |
– | microduplication 9q21.11 | 613558 | 9q21.11 | 9 | 71051 | 71197 | 146 |
microdeletion 9q22.3 | PTCH1 microduplication | 601309 | 9q22.3 | 9 | 94420 | 99100 | 4680 |
holoprosencephaly 7/HPE7 | – | 610828 | 9q22.32 | 9 | 97284 | 97319 | 35 |
nail-patella syndrome/NPS | – | 161200 | 9q33.3 | 9 | 128417 | 128499 | 82 |
early infantile epileptic encephalopathy 4/EIEE4 | – | 612164 | 9q34.11 | 9 | 129414 | 129495 | 81 |
microdeletion 9q34 (EHMT1) | microduplication 9q34 (EHMT1) | 607001 | 9q34.3 | 9 | 136950 | 140200 | 3250 |
subtelomere deletion 9q | – | 610253 | 9q34.3 | 9 | 139473 | 140273 | 800 |
hypoparathyroidism, sensorineural deafness, and renal disease/HDRS | – | 146255 | 10p15 | 10 | 8137 | 8157 | 20 |
Di George syndrome 2/DGS2 | – | 601362 | 10p12.31 | 10 | 21144 | 21170 | 26 |
microdeletion 10q22-q23 (NRG3, GRID1) | – | – | 10q22-q23 | 10 | 81655 | 88984 | 7329 |
juvenile polyposis syndrome/JPS | – | 612242 | 10q23.2-q23.3 | 10 | 88675 | 89613 | 938 |
– | Split-Hand/Foot Malformation 3/SHFM3 | 246560 | 10q24.32 | 10 | 102977 | 103445 | 468 |
microdeletion 10q25q26 | – | 609625 | 10q25q26 | 10 | 117098 | qter | 18319 |
Beckwith–Wiedemann syndrome/BWS—Silver Russell syndrome/SRS microdeletion | Beckwith–Wiedemann syndrome/BWS—Silver Russell syndrome/SRS microduplication | 130650 | 11p15.5 | 11 | 2861 | 2864 | 3 |
WAGR syndrome | microduplication 11p13 | 194072/612469 | 11p13 | 11 | 31767 | 32467 | 700 |
Potocki–Shaffer syndrome/PSS | – | 601224 | 11p11.2 | 11 | 43905 | 46080 | 2175 |
– | spinocerebellar ataxia type 20/SCA20 | 608687 | 11q12.2q12.3 | 11 | 61210 | 61503 | 293 |
microdeletion 11q14.1 | – | – | 11q14.1-q14.2 | 11 | 86334 | 86344 | 10 |
Jacobsen syndrome/JBS | – | 147791/188025 | 11q23.3-qter | 11 | 115400 | 134452 | 19052 |
– | microduplication 12p13.31 | – | 12p13.31 | 12 | 8050 | 8250 | 200 |
microdeletion 12q14 | – | – | 12q14 | 12 | 63356 | 66932 | 3576 |
nasal speech-hypothyroidism microdeletion/NSH | – | – | 12q15-q21.1 | 12 | 68802 | 701392 | 632590 |
Noonan syndrome 1/NS1 | – | 163950 | 12q24.1 | 12 | 111341 | 111432 | 91 |
microdeletion 13q12 (CRYL1) | microduplication 13q12 (CRYL1) | – | 13q12.11 | 13 | 19710 | 19910 | 200 |
spastic ataxia Charlevoix–Saguenay/SACS | – | 270550 | 13q12.12 | 13 | 22336 | 23807 | 1471 |
microdeletion 13q12.3-q13.1 | – | 600185 | 13q12.3-q13.1 | 13 | 31137 | 31871 | 734 |
retinoblastoma/RB1 | – | 613884 | 13q14.2 | 13 | 47776 | 47954 | 178 |
Hirschsprung disease 2/HSCR2 | – | 600155 | 13q22 | 13 | 77369 | 77391 | 22 |
holoprosencephaly5/HPE5 | – | 609637 | 13q32.3 | 13 | 99432 | 99437 | 5 |
microdeletion 14q11.2 | – | 613457 | 14q11.2 | 14 | 20920 | 20947 | 27 |
congenital Rett variant/CRV | microduplication 14q12 | 613454 | 14q12 | 14 | 28300 | 30000 | 1700 |
microdeletion 14q22-q23 | – | 607932 | 14q22-q23 | 14 | 53486 | 60261 | 6775 |
autism spherocytosis microdeletion/ASC | – | – | 14q23.2-q23.3 | 14 | 63924 | 64471 | 547 |
microdeletion 14q32.2 | – | – | 14q32.2 | 14 | 99463 | 100574 | 1111 |
microdeletion 15q11.2 (NIPA1) | microduplication 15q11.2 (NIPA1) | 608145 | 15q11.2 | 15 | 20350 | 20640 | 290 |
Angelman syndrome Typ1/AS1 | microduplication 15 | 105830 | 15q11.2-q13.1 | 15 | 20405 | 26231 | 5826 |
Angelman syndrome Typ2/AS2 | microduplication 15 | 105830 | 15q11.2-q13.1 | 15 | 21309 | 26231 | 4922 |
Prader–Willi syndrome Typ 1/ PWS1 | microduplication 15 | 176270 | 15q11.2-q13.1 | 15 | 20405 | 26231 | 5826 |
Prader–Willi syndrome Typ 2/ PWS2 | microduplication 15 | 176270 | 15q11.2-q13.1 | 15 | 21309 | 26231 | 4922 |
microdeletion 15q13.3 (CHRNA7) | microduplication 15q13.3 (CHRNA7) | 612001 | 15q13.3 | 15 | 28525 | 30489 | 1964 |
microdeletion 15q14 | – | – | 15q14 | 15 | 33471 | 35072 | 1601 |
deafness and male infertility syndrome/DMIS | – | 611102 | 15q15.3 | 15 | 41613 | 41747 | 134 |
microdeletion 15q21 | – | – | 15q21 | 15 | 48382 | 48565 | 183 |
microdeletion 15q24 (BBS4,NPTN, NE01) | – | 601907 | 15q24 | 15 | 70700 | 72200 | 1500 |
microdeletion 15q24 | microduplication 15q24 | 613406 | 15q24 | 15 | 72158 | 73949 | 1791 |
orofacial clefting/OC | – | 614294 | 15q24.3-q25.2 | 15 | 76080 | 80338 | 4258 |
microdeletion 15q25 | – | 614294 | 15q25 | 15 | 82900 | 83600 | 700 |
microdeletion 15q26.1 | – | – | 15q26.1 | 15 | 91100 | 91600 | 500 |
Fryns syndrome/FNS | – | 229850 | 15q26.2 | 15 | 92238 | 96520 | 4282 |
microdeletion 15q26.2-qter | – | – | 15q26.2-qter | 15 | 95600 | 100339 | 4739 |
ATR-16-syndrome | – | 141750 | 16p13.3 | 16 | 0 | 774 | 774 |
tuberous sclerosis microdeletion syndrome/PKDTS | tuberous sclerosis microduplication | 600273 | 16p13.3 | 16 | 2038 | 2079 | 41 |
Rubinstein–Taybi syndrome 1/RSTS1 | Rubinstein–Taybi-microduplication | 610543/613458 | 16p13.3 | 16 | 3762 | 3801 | 39 |
microdeletion 16p13.1 (MYH11) | microduplication 16p13.1 (MYH11) | 132900 | 16p13.1 | 16 | 14789 | 16281 | 1492 |
microdeletion 16p11.2-p12.2 | microduplication 16p11.2-p12.2 | 613604 | 16p11.2-p12.2 | 16 | 21521 | 28950 | 7429 |
microdeletion 16p12.1 (EEF2K,CDR2) | microduplication 16p12.2 (EEF2K,CDR2) | 117340/606968 | 16p12.1 | 16 | 21850 | 22370 | 520 |
16q11.2 distal microdeletion (SH2B1) | 16q11.2 distal microduplication (SH2B1) | – | 16q11.2 | 16 | 28680 | 29020 | 340 |
microdeletion 16p11.2 (TBX6) | microduplication 16p11.2 (TBX6) | 602427/611913 | 16p11.2 | 16 | 29551 | 30059 | 508 |
microdeletion 16q11.2-q12.1 | – | – | 16q11.2-q12.1 | 16 | 45401 | 45579 | 178 |
microdeletion 16q21-q22 | – | – | 16q21-q22 | 16 | 65621 | 65692 | 71 |
microdeletion 16q12.1-q12.2 | – | – | 16q12.1-q12.2 | 16 | 48018 | 52726 | 4708 |
microdeletion 16q24.1 | – | 601089 | 16q24.1 | 16 | 82908 | 85153 | 2245 |
FANCA deletion | – | 227650 | 16q24.3 | 16 | 88392 | 88411 | 19 |
Miller–Dieker syndrome/MDLS | Miller–Dieker microduplication | 247200/613215 | 17p13.3 | 17 | 0 | 2492 | 2492 |
microdeletion 17p13.3 (YWHAE) | microduplication 17p13.3 (YWHAE) | 247200/613215 | 17p13.3 | 17 | 2–310 | 2870 | 2870 |
microdeletion 17p13.1 | – | 613776 | 17p13.1 | 17 | 7429 | 7937 | 508 |
hereditary liability to pressure palsies/HNPP | Charcot–Marie–Tooth 1A/CMT1A | 162500/118220 | 17p12 | 17 | 13855 | 15375 | 1520 |
Smith–Magenis syndrome/SMS | Potocki–Lupski syndrome/PTLS | 610883 | 17p11.2 | 17 | 16527 | 20423 | 3896 |
neurofibromatosis 1/NF1 | microduplication NF1 | 613675 | 17q11 | 17 | 26102 | 27243 | 1141 |
microdeletion 17q11.2-q12 | – | – | 17q11.2-q12 | 17 | 26280 | 31030 | 4750 |
microdeletion 17q12a | – | – | 17q12 | 17 | 31977 | 33150 | 1173 |
renal cysts and diabetes syndrome/RCAD | microduplication 17q12b | 137920 | 17q12 | 17 | 31830 | 33350 | 1520 |
Van Buchem disease/VBCH | – | 239100 | 17q12-q21 | 17 | 39187 | 39192 | 5 |
microdeletion 17q21.3 (MAPT) | microduplication 17q21.31 (MAPT) | 610443/613533 | 17q21.3 | 17 | 40988 | 41566 | 578 |
microdeletion 17q21.31-q21.32 | – | – | 17q21.31-q21.32 | 17 | 41769 | 43113 | 1344 |
microdeletion 17q22-q23.2 | – | – | 17q22–23.2 | 17 | 48300 | 54200 | 5900 |
– | microduplication 17q23.1–23.2 | 613355/613618 | 17q23.1–23.2 | 17 | 55457 | 57693 | 2236 |
microdeletion 17q24.2-q24.3 | – | – | 17q24.2-q24.3 | 17 | 61730 | 65690 | 3960 |
carney complex syndrome 1/CNC1 | – | 160980 | 17q24.2-q24.3 | 17 | 63260 | 65594 | 2334 |
– | microduplication 17q24.3 | 278850 | 17q24.3 | 17 | 65642 | 66847 | 1205 |
holoprosencephaly 4/HPE4 | – | 146390 | 18p11.31 | 18 | 3445 | 3448 | 3 |
proximal 18q microdeletion | – | 601808 | 18q12.3-q21.1 | 18 | 37500 | 42500 | 5000 |
Pitt–Hopkins syndrome/PTHS | – | 610954 | 18q21.1 | 18 | 51083 | 51282 | 199 |
microdeletion 18q22.3-q23 | – | 607842 | 18q22.3-q23 | 18 | 70474 | 73111 | 2637 |
– | Sotos-like microduplication 19p13.2 | – | 19p13.2 | 19 | 9107 | 11094 | 1987 |
microdeletion 19p13.13 | microduplication 19p13.13 | 613638 | 19p13.13 | 19 | 12793 | 13104 | 311 |
microdeletion 19p13.12 | – | – | 19p13.12 | 19 | 14119 | 14439 | 320 |
microdeletion 19p13.11 | – | – | 19p13.11 | 19 | 16485 | 17554 | 1069 |
microdeletion 19q13.11 | – | 613026 | 19q13.11 | 19 | 37300 | 40200 | 2900 |
Diamond–Blackfan anemia/DBA | – | 105650 | 19q13.2 | 19 | 47056 | 47067 | 11 |
microdeletion 20p12.3 | – | 112261 | 20p12.3 | 20 | 6907 | 7012 | 105 |
Alagille syndrome 1/ALGS1 | – | 118450 | 20p12 | 20 | 10478 | 10669 | 191 |
microdeletion 20q13.13-q13.2 | – | – | 20q13.13-q13.2 | 20 | 49760 | 50840 | 1080 |
Albright hereditary osteodystrophy/AHO | – | 103580 | 20q13.32 | 20 | 56900 | 56920 | 20 |
microdeletion 20q13.33 | – | – | 20q13.33 | 20 | 61246 | 62376 | 1130 |
microdeletion 21q21.1 | – | – | 21q21.1 | 21 | 19950 | 20250 | 300 |
– | microduplication 21q21.3 | – | 21q21.3 | 21 | 25960 | 26470 | 510 |
platelet disorder/PD | – | 601399 | 21q22.12 | 21 | 34743 | 35343 | 600 |
– | Down syndrome/DS | 190685 | 21q22.13 | 21 | 37300 | 38502 | 1202 |
– | Cat-Eye syndrome/CES | 115470 | 22p11.1-q11.21 | 22 | 0 | 16977 | 16977 |
Di George syndrome/CATCH22/DGS | microduplication 22q11.2 | 608363/145410 | 22q11.21-q11.23 | 22 | 16932 | 20672 | 3740 |
distal microdeletion 22q11.2 (BCR, MAPK1) | distal microduplication 22q11.2 (BCR, MAPK1) | 611867 | 22q11.2 | 22 | 20446 | 22026 | 1580 |
neurofibromatosis 2 microdeletion syndrome | – | 101000 | 22q12.2 | 22 | 28330 | 28425 | 95 |
Phelan–McDermid syndrome | microduplication 22q13 (SHANK3) | 606232 | 22q13 | 22 | 49449 | 49691 | 242 |
Leri–Weill dyschondrosteosis/LWD | – | 127300 | Xp22.33 | X | 0 | 724 | 724 |
X-Linked autism-2/AUTSX2 | – | 300495 | Xp22.32-p22.31 | X | 5818 | 6157 | 339 |
Steroid sulphatase deficiency/STS | – | 308100 | Xp22.31 | X | 6452 | 8128 | 1676 |
Kallmann syndrome 1/KAL1 | – | 308700 | Xp22.31 | X | 8457 | 8660 | 203 |
MIDAS syndrome | – | 309801 | Xp22.2 | X | 11039 | 11659 | 620 |
Nance–Horan syndrome/NHS | – | 302350 | Xp22.13 | X | 16853 | 17768 | 915 |
microdeletion Xp22.11 | – | 300830 | Xp22.11 | X | 22928 | 23309 | 381 |
X-linked congenital adrenal hypoplasia/AHC | DAX1 microduplication | 300679 | Xp21.2 | X | 30233 | 30237 | 4 |
complex glycerol kinase/CGK | – | 300679 | Xp21.2 | X | 30233 | 30659 | 426 |
muscular dystrophy Duchenne/DMD | – | 310200 | Xp21.2 | X | 32445 | 33268 | 823 |
Xp11.3 deletion syndrome | – | 300578 | Xp11.3 | X | 46193 | 46627 | 434 |
Goltz syndrome/GS | – | 305600 | Xp11.23 | X | 48252 | 48264 | 12 |
– | 17-beta-hydroxysteroid dehydrogenase X/HSD | 300801 | Xp11.22 | X | 53467 | 53730 | 263 |
– | microduplication Xq12q13.1 | 300127 | Xq12-q13.1 | X | 67435 | 68633 | 1198 |
X inactivation specific transcript/XIST | – | 314670 | Xq13.2 | X | 72863 | 73063 | 200 |
Bruton agammaglobulinemia/XLA | – | 300755 | Xq22.1 | X | 100490 | 100497 | 7 |
microdeletion Xq22.2 | Pelizaeus–Merzbacher microduplication/PMD | 312080 | Xq22.2 | X | 102609 | 103098 | 489 |
microdeletion Xq22.3q23 | – | 300194/303631 | Xq22.3-q23 | X | 107214 | 110239 | 3025 |
lymphoproliferative syndrome 1/XLP1 | – | 308240 | Xq25 | X | 123308 | 123335 | 27 |
– | X-linked hypopituitarism/SRXX3 | 300833 | Xq27.1 | X | 139413 | 139415 | 2 |
fragile site mental retardation 1/FMR1 | – | 309550 | Xq27.3 | X | 146801 | 146840 | 39 |
microdeletion Xq28 | – | – | Xq28 | X | 147043 | 147543 | 500 |
Rett syndrome/RS | MECP2 microduplication | 300475/300815/ 300845 | Xq28 | X | 152535 | 153044 | 509 |
sex-determining region Y/SRY | – | 480000 | Yp11.31 | Y | 2715 | 2716 | 1 |
AZFa microdeletion | – | 415000 | Yq11.21 | Y | 12934 | 13664 | 730 |
AZFb microdeletion | – | 415000 | Yq11.221- q11.223 | Y | 18698 | 24475 | 5777 |
AZFb+c microdeletion | – | 415000 | Yq11.221-q11.23 | Y | 18474 | 26203 | 7729 |
AZFc microdeletion | – | 415000 | Yq11.223-q11.23 | Y | 23387 | 26203 | 2816 |