ClinVar Miner

Variants from Ambry Genetics

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
6428 1965 23403 15032 3899 50721

Gene and significance breakdown #

Total genes and gene combinations: 1243
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 834 71 1980 984 156 4025
BRCA1 574 72 997 504 112 2259
ATM 248 42 1001 453 44 1788
APC 218 30 956 482 41 1727
MSH6 277 47 926 437 21 1708
NF1 186 41 873 517 21 1638
MSH2 272 42 692 271 16 1293
TTN 3 64 550 337 325 1279
PALB2 221 28 618 305 15 1187
ATM, C11orf65 144 47 619 215 11 1036
BRIP1 88 28 553 233 10 912
PMS2 93 21 489 251 35 888
CDH1 66 15 475 269 19 844
RAD50 81 23 502 210 10 826
BARD1 74 14 503 205 15 811
MLH1 137 45 395 186 21 784
SMARCA4 7 1 376 380 18 782
CHEK2 82 39 472 114 5 712
TSC2 27 4 275 309 36 651
TP53 112 106 269 151 6 644
POLE 1 0 200 383 27 611
NBN 54 16 358 164 13 605
MRE11 34 20 355 146 8 562
MUTYH 49 22 326 143 9 549
STK11 51 15 219 211 7 503
DICER1 89 3 207 176 10 485
PTEN 138 53 161 86 2 440
POLD1 2 0 151 249 24 426
FBN1 107 56 137 77 24 401
RAD51C 33 27 220 81 5 366
RAD51D, RAD51L3-RFFL 28 17 187 84 4 320
BMPR1A 43 13 153 73 5 287
NOTCH1 4 0 117 119 43 283
RET 18 0 134 98 14 264
FBN2 2 5 116 100 39 262
MYBPC3 68 16 93 53 17 247
RYR2 3 7 102 86 40 238
TSC1 12 1 105 97 17 232
MEN1 79 32 55 54 4 224
PTCH1 35 7 74 85 21 222
SDHA 17 11 98 63 25 214
SMAD4 31 6 92 84 0 213
SCN5A 16 19 84 70 22 211
FLNA 1 2 62 102 36 203
MYH7 16 30 84 58 15 203
FLCN 58 3 76 56 4 197
ANK2 0 0 72 91 32 195
MET 3 0 111 68 12 194
AKAP9 0 0 76 83 29 188
DSP 13 2 74 64 29 182
CDKN2A 25 19 93 37 6 180
ANKRD11 22 0 36 90 26 174
MYH6 0 1 88 56 28 173
ARID1B 19 3 32 84 30 168
FH 32 32 70 26 6 166
COL5A1 2 1 75 63 23 164
MYLK 0 0 75 57 32 164
CACNA1C 1 1 56 80 25 163
RB1 88 15 37 21 2 163
SDHB 52 25 50 21 6 154
KCNH2 34 12 46 41 12 145
VPS13B 6 1 55 52 29 143
BLM 8 1 66 57 10 142
DYNC1H1 4 3 27 79 28 141
CHD7 13 1 37 59 29 139
DMD 1 0 56 35 46 138
CACNA1A 9 2 49 42 35 137
BAP1 8 2 55 63 6 134
COL3A1 13 8 60 36 17 134
SZT2 0 0 59 54 20 133
MYH11 2 0 57 55 15 129
KCNQ1 36 20 31 23 8 118
CREBBP 6 2 15 69 25 117
RAD50, TH2-LCR, TH2LCRR 9 4 72 27 2 114
RAI1 2 0 23 63 26 114
COL5A2 0 0 57 27 20 104
MYPN 0 0 44 33 22 99
MED12 0 2 36 37 16 90
PKP2 19 2 38 18 13 90
GALNT12 0 0 46 36 7 89
MYH11, NDE1 0 0 38 30 20 88
CNTNAP2 1 0 39 39 8 87
KCNT1 1 1 16 55 14 87
NRXN1 0 0 37 44 6 87
SPTAN1 1 0 19 48 19 87
CDK4 0 0 52 31 1 84
HOXB13 0 1 59 22 2 84
CHD8 6 1 29 32 15 83
SCN2A 7 3 29 30 12 81
DSG2 1 3 30 28 18 80
CHD2 5 4 14 43 13 79
HCN4 0 0 29 31 18 78
KIF1A 4 1 22 37 13 77
SHANK3 5 1 20 35 16 77
LMNA 12 10 26 22 6 76
PLOD1 3 1 30 23 18 75
SKI 2 0 24 37 11 74
CBS 8 0 23 35 7 73
EHMT1 4 1 11 38 18 72
VHL 15 9 28 17 3 72
RBM20 1 0 33 21 16 71
POLG 9 2 25 20 13 69
SYNGAP1 17 2 16 24 10 69
GRIN2B 4 1 12 37 14 68
NSD1 4 1 10 32 21 68
SDHD 20 11 25 8 4 68
TRAPPC9 0 1 24 26 17 68
DEPDC5 4 0 21 24 18 67
HUWE1 0 1 16 27 23 67
JUP 0 0 29 25 12 66
MECP2 14 4 14 15 19 66
SIK1 0 0 12 32 21 65
ACTN2 0 1 28 25 10 64
DSC2 1 1 39 14 8 63
KCNQ2 11 8 5 23 15 62
LDB3 0 0 27 21 14 62
SCN8A 7 1 11 35 8 62
ATP13A2 1 1 22 21 15 60
JPH2 0 0 20 29 10 59
MAN1B1 1 1 17 23 17 59
LAMA4 0 0 27 25 6 58
SMARCA2 1 1 6 33 17 58
KAT6A 3 0 13 29 12 57
LOC107303340, VHL 23 11 17 6 0 57
PNKP 3 2 22 24 6 57
ATRX 3 2 19 19 13 56
CHRNA4 1 0 13 32 9 55
SLC2A10 3 1 24 16 11 55
TGFBR1 3 3 30 12 7 55
TMEM127 5 1 27 20 2 55
GRIN2A 2 0 20 28 4 54
TRDN 0 0 24 12 18 54
CC2D1A 0 0 32 12 9 53
POGZ 5 0 16 25 6 52
SMAD3 3 3 25 17 4 52
ALK 0 0 17 11 23 51
TXNRD2 0 0 19 19 13 51
LOC102724058, SCN1A 13 3 11 20 4 50
MYOM1 0 0 9 8 32 49
TRPM4 0 0 17 13 19 49
DHCR7 4 2 18 14 11 48
NEXN 0 3 28 13 4 48
NEXMIF 5 0 22 11 9 47
NIPBL 1 0 7 30 9 47
TGFB3 1 1 27 15 3 47
VCL 0 0 20 14 13 47
CDK4, TSPAN31 0 0 30 15 1 46
POT1 0 0 26 15 5 46
PRKG1 1 0 20 18 6 45
SDHC 9 8 17 10 1 45
ZEB2 4 0 6 28 7 45
ADNP 8 1 9 20 6 44
RAD50, TH2LCRR 2 0 31 10 1 44
BAG3 6 0 14 13 10 43
LINS1 1 0 18 13 11 43
FOXG1 9 0 6 26 1 42
TMEM43 1 0 23 8 10 42
AIP 0 0 22 14 5 41
AOPEP, FANCC 2 1 19 15 4 41
CACNA2D1 0 0 15 17 9 41
PLCB1 0 0 7 22 12 41
TPP1 5 1 13 11 11 41
TBC1D24 1 0 19 15 5 40
TGFBR2 8 1 9 13 9 40
ABCC9 0 1 15 15 8 39
NF2 0 0 18 19 2 39
PCDH19 8 3 10 8 10 39
RAF1 2 3 18 12 4 39
SLC2A1 8 2 7 13 9 39
SNTA1 0 0 18 16 5 39
LOC100507346, PTCH1 6 0 12 16 4 38
MBD5 2 0 14 18 4 38
DES 0 0 13 11 13 37
GRN 0 0 20 12 5 37
PIGN 1 1 9 10 16 37
CACNB2, NSUN6 0 0 19 9 8 36
GRIN1 5 1 8 16 6 36
NSUN2 1 0 11 16 8 36
SDHAF2 1 2 21 12 0 36
SNHG14, UBE3A 9 1 10 9 7 36
TMPO 0 0 12 12 12 36
AP4B1 3 1 18 7 6 35
ATP1A2 2 1 7 15 10 35
CDKN1B 0 0 20 12 3 35
SLC6A1 5 1 5 16 8 35
COL5A1, LOC101448202 0 1 9 15 9 34
DNM1 2 2 8 16 6 34
HCN1 0 0 10 23 1 34
MHRT, MYH7 0 2 20 7 5 34
PRKAG2 1 0 13 12 8 34
TNNT2 7 5 15 3 4 34
STXBP1 11 0 5 13 4 33
KLLN, PTEN 0 0 31 0 1 32
NHS 2 0 10 7 13 32
SUFU 0 0 16 11 5 32
ATP7A 1 0 8 8 14 31
JAG1 1 0 5 13 12 31
KCND3 0 0 13 10 8 31
KCNQ3 0 1 6 14 10 31
PTPN11 9 2 6 13 1 31
SCN1A 5 5 4 13 4 31
TCF4 7 3 5 12 4 31
ACTA2 4 3 19 3 1 30
CTSF 1 0 13 9 7 30
IQSEC2 2 0 6 15 8 30
MAX 4 1 17 8 0 30
NKX2-5 1 0 16 7 6 30
OFD1 3 1 8 8 10 30
CHRNA2 0 0 11 12 6 29
CTSD 0 0 11 10 8 29
DYRK1A 10 0 4 12 3 29
GATA4 0 0 11 11 7 29
PACS1 1 0 7 14 7 29
SMARCB1 1 1 10 15 2 29
SATB2 6 3 5 12 2 28
EEF1A2 2 1 5 11 8 27
FANCC 3 0 12 10 2 27
FOXP1 3 1 8 13 2 27
L1CAM 0 0 6 10 11 27
MFSD8 0 3 12 7 5 27
PRICKLE1 0 0 12 8 7 27
SLC6A8 1 2 5 11 8 27
SMARCE1 1 1 12 13 0 27
SMC1A 4 3 8 7 5 27
TGFB2 4 2 14 6 1 27
TPM1 1 4 14 5 3 27
ABCD1 1 0 5 9 11 26
ALDH7A1 5 0 11 4 6 26
ALG13 0 0 8 7 11 26
CDKL5 8 1 3 9 5 26
GPD1L 0 1 12 9 4 26
TBX1 1 0 8 7 10 26
TBX5 0 0 10 11 5 26
CASK 3 1 9 6 6 25
KDM5C 4 3 4 11 3 25
LAMP2 0 0 11 8 6 25
SLC25A22 0 0 6 12 7 25
FGD1 3 2 7 5 7 24
KATNAL2 0 0 8 12 4 24
SMC3 1 0 2 18 3 24
XRCC2 2 0 8 12 2 24
DDX3X 11 4 5 1 2 23
FOXP2 1 0 5 14 3 23
LOC101927055, TTN 0 0 8 3 12 23
SLC13A5 1 0 8 11 3 23
CLN3 0 0 10 7 5 22
FKTN 0 0 8 8 6 22
KCNE1 1 2 9 7 3 22
PRKAR1A 0 0 6 14 2 22
PURA 5 2 4 11 0 22
TNNI3 4 2 11 3 2 22
ANKRD1 0 0 12 6 3 21
CASQ2 1 3 11 3 3 21
GNAO1 3 1 4 10 3 21
NLGN4X 1 0 8 6 6 21
RYR1 3 5 13 0 0 21
CLN8 1 2 7 6 4 20
GABRG2 1 1 8 4 6 20
GAMT 0 1 11 6 2 20
KCNJ2 0 2 5 11 2 20
KMT2A 17 0 3 0 0 20
KMT2D 11 0 9 0 0 20
LOC114827851, MYH6 0 0 6 6 8 20
MUTYH, TOE1 1 1 15 3 0 20
SLC16A2 4 0 5 6 5 20
ARX 1 0 8 7 3 19
PHF8 1 0 4 8 6 19
PHOX2B 0 1 6 9 3 19
SYN1 1 1 6 7 4 19
CAV3 0 0 3 12 3 18
CHRNB2 0 1 6 8 3 18
CSRP3 0 0 10 5 3 18
EYA4 1 0 12 3 2 18
MED23 0 0 6 10 2 18
MYL3 1 2 8 6 1 18
NEBL 0 0 8 1 9 18
RAD21 0 0 8 8 2 18
SCN1B 1 1 6 6 4 18
TBX20 0 0 8 6 4 18
ARHGEF9 0 1 4 12 0 17
HNRNPU 1 1 5 9 1 17
LOC110121269, SCN5A 1 0 8 4 4 17
TBR1 1 0 6 8 2 17
CLN6 1 1 7 4 3 16
CTCF 3 1 2 9 1 16
GABRA1 1 0 3 9 3 16
GLA, RPL36A-HNRNPH2 3 1 5 6 1 16
PTCHD1 2 0 4 7 3 16
RPS6KA3 2 1 1 5 7 16
SCARB2 0 0 6 7 3 16
TCAP 0 0 8 5 3 16
KCTD7 0 3 4 6 2 15
SHROOM4 0 0 3 2 10 15
TBL1XR1 0 1 5 8 1 15
BRWD3 0 0 4 4 6 14
FOLR1 0 1 7 4 2 14
GATM 0 0 6 4 4 14
GRIA3 0 1 8 0 5 14
HOXA1 0 0 2 10 2 14
KCNC1 0 0 3 9 2 14
KCNJ10 0 0 5 7 2 14
MYOZ2 0 0 4 4 6 14
NHLRC1 0 0 6 5 3 14
OPHN1 0 1 4 2 7 14
PDHA1 4 1 2 4 3 14
SCN3B 0 0 5 6 3 14
SLC9A6 0 0 2 4 8 14
CLN5 0 0 5 5 3 13
CLN5, FBXL3 1 0 5 3 4 13
GABRB3 0 1 4 3 5 13
MED13L 8 2 3 0 0 13
MID1 0 1 2 3 7 13
MYL2 0 2 5 4 2 13
NEB 1 2 8 2 0 13
NLGN3 1 0 2 7 3 13
PPT1 4 0 4 1 4 13
SCN4B 0 0 9 2 2 13
TTR 1 0 4 4 4 13
ACTC1, LOC101928174 0 1 9 1 1 12
BCOR 1 0 4 3 4 12
EPM2A 0 0 5 6 1 12
IDS, LOC106050102 0 0 1 4 7 12
KCNA2 1 1 2 6 2 12
KCNJ8 0 0 3 4 5 12
PIGA 0 1 5 4 2 12
ST3GAL3 0 0 2 10 0 12
ZNF41 0 0 2 1 9 12
ARX, LOC109610631 2 0 3 5 1 11
CACNB2 0 0 8 3 0 11
COL4A1 4 3 4 0 0 11
CTNNB1 7 2 2 0 0 11
DLG3 2 0 1 2 6 11
EP300 5 1 5 0 0 11
EPM2A, LOC100507557 0 0 6 2 3 11
FLNA, LOC107988032 0 0 8 2 1 11
FTSJ1 1 0 3 2 5 11
ITPR1 4 1 6 0 0 11
OCRL 1 0 1 6 3 11
PDLIM3 0 0 3 1 7 11
PQBP1 1 1 7 1 1 11
PRRT2 1 0 2 6 2 11
SMS 1 0 3 5 2 11
ASPM 4 1 5 0 0 10
CALR3 0 0 2 2 6 10
CRH 0 0 2 5 3 10
FXN 0 1 1 6 2 10
LGI1 0 0 3 7 0 10
MAOA 0 0 4 2 4 10
MEF2C 3 2 1 4 0 10
OTC 0 0 3 2 5 10
PAK3 0 1 2 4 3 10
TRIO 3 0 7 0 0 10
TRPV4 3 1 6 0 0 10
TUBA1A 5 3 2 0 0 10
TUSC3 0 0 4 6 0 10
WDR45 5 0 1 1 3 10
ATP1A3 3 4 2 0 0 9
BRAF 6 3 0 0 0 9
COL1A2 5 2 2 0 0 9
COL2A1 4 5 0 0 0 9
CRYAB 0 0 4 2 3 9
CUL4B 2 3 2 1 1 9
DNAJC5 0 0 0 8 1 9
FMR1 0 1 3 3 2 9
GDI1 0 1 3 2 3 9
GOSR2, LRRC37A2 0 1 4 1 3 9
GPC3 0 1 1 2 5 9
HDAC8 4 1 2 1 1 9
HERC2 0 0 8 0 1 9
KCNE2 0 0 3 4 2 9
LOC111811965, NF1 2 0 5 2 0 9
SLC35A2 1 0 2 4 2 9
USH2A 4 3 2 0 0 9
ZNF81 0 0 0 2 7 9
ACTB 2 2 4 0 0 8
ASXL1 7 1 0 0 0 8
CA8 0 0 1 3 4 8
CDKL5, RS1 0 0 1 5 2 8
FBN1, LOC113939944 2 2 3 0 1 8
LDB3, LOC110121486 0 0 4 1 3 8
LOC110011216, PHOX2B 0 0 0 6 2 8
PNPO 0 0 3 1 4 8
STX1B 1 2 0 4 1 8
USP9X 0 1 7 0 0 8
ZC4H2 2 0 2 2 2 8
ABCA4 1 2 4 0 0 7
ACSL4 0 0 2 4 1 7
ARID1A 0 1 6 0 0 7
CACNA1E 0 1 6 0 0 7
CFTR 4 1 2 0 0 7
CSTB 2 1 1 3 0 7
DCX 0 0 1 5 1 7
EMD 1 0 2 3 1 7
GATAD1 0 0 3 3 1 7
HECW2 0 4 3 0 0 7
ILK, TAF10 0 0 3 1 3 7
KCNE3 0 0 4 2 1 7
KCNJ5 0 0 1 1 5 7
KMT2B 4 1 2 0 0 7
LOC114827850, MYL2 0 1 5 1 0 7
METTL23 3 0 4 0 0 7
PORCN 0 0 1 3 3 7
RERE 0 1 6 0 0 7
SETX 3 1 3 0 0 7
SON 5 2 0 0 0 7
TNNC1 0 0 3 4 0 7
ADCY5 2 3 1 0 0 6
BBS10 3 1 2 0 0 6
CAV3, SSUH2 0 0 2 2 2 6
CLTC 2 2 2 0 0 6
DEAF1 1 2 3 0 0 6
DNAH5 4 1 1 0 0 6
DNMT3A 4 0 2 0 0 6
EFTUD2 3 2 1 0 0 6
EPCAM 0 0 1 3 2 6
FGFR3 3 0 3 0 0 6
GLI2 3 1 2 0 0 6
GNAS 2 2 2 0 0 6
HCFC1 1 0 5 0 0 6
IDS 0 0 1 4 1 6
IGF1R 3 0 3 0 0 6
KANSL1 2 0 4 0 0 6
LRP2 0 0 6 0 0 6
NALCN 3 2 1 0 0 6
NBN, OSGIN2 0 1 4 1 0 6
NFIA 3 0 3 0 0 6
PIEZO2 3 0 3 0 0 6
PKD1 2 1 3 0 0 6
PLEC 0 0 6 0 0 6
PMM2 5 1 0 0 0 6
RELN 1 1 4 0 0 6
SETD2 1 0 5 0 0 6
SNAP25 0 1 1 2 2 6
TNXB 1 0 5 0 0 6
UPF3B 0 0 2 1 3 6
ZNF711 0 0 3 2 1 6
ACAN 0 1 4 0 0 5
AFF2 1 0 4 0 0 5
AUTS2 1 0 4 0 0 5
CARS2 1 0 4 0 0 5
CDH23 1 0 4 0 0 5
CDK13 2 0 3 0 0 5
CLCN4 0 1 4 0 0 5
EPG5 0 0 5 0 0 5
FANCB 0 0 2 0 3 5
FGD1, TSR2 0 0 0 4 1 5
GALNS 2 1 2 0 0 5
HIVEP2 1 0 4 0 0 5
KCNQ1, KCNQ1OT1 2 0 1 1 1 5
LAMA2 3 0 2 0 0 5
LOC100506321, MAX 2 1 1 1 0 5
LRP5 3 1 1 0 0 5
MYO15A 3 2 0 0 0 5
MYO7A 3 1 1 0 0 5
OCA2 2 2 1 0 0 5
PHF6 2 0 1 0 2 5
PLA2G6 3 0 2 0 0 5
PLP1, RAB9B 2 0 1 1 1 5
PRPS1 1 1 1 2 0 5
PUF60 3 1 1 0 0 5
RYR3 0 0 4 1 0 5
SCN3A 1 1 3 0 0 5
SGCD 0 0 0 2 3 5
SOS1 2 3 0 0 0 5
SPAST 1 3 1 0 0 5
TAZ 1 0 2 1 1 5
THOC6 1 3 1 0 0 5
TMEM67 1 3 1 0 0 5
WARS2 0 0 5 0 0 5
ZBTB18 0 4 1 0 0 5
ZBTB20 0 2 3 0 0 5
ZMYND11 2 0 3 0 0 5
ACTG2 4 0 0 0 0 4
ARHGEF6 0 0 0 1 3 4
ARID2 1 0 3 0 0 4
ASXL3 2 1 1 0 0 4
ATP6AP2 0 0 0 1 3 4
ATP7B 1 0 3 0 0 4
BRAT1 2 0 2 0 0 4
CALM1 0 0 0 4 0 4
CAMTA1 1 1 2 0 0 4
CEP85L, PLN 2 0 1 1 0 4
CHAMP1 3 0 1 0 0 4
CHRNA4, LOC100130587 0 0 1 2 1 4
COQ8A 0 3 1 0 0 4
CSNK2A1 0 2 2 0 0 4
DSC2, DSCAS 0 0 2 1 1 4
EARS2 1 0 3 0 0 4
EBF3 0 2 2 0 0 4
ECEL1 1 0 3 0 0 4
FAT4 0 0 4 0 0 4
FBXL4 4 0 0 0 0 4
FDXR 0 0 4 0 0 4
FGFR2 2 1 1 0 0 4
GBE1 1 1 2 0 0 4
GK 0 0 0 1 3 4
GLB1 2 1 1 0 0 4
GNB1 3 1 0 0 0 4
HEXA 1 2 1 0 0 4
HIBCH 1 2 1 0 0 4
HPRT1 0 1 2 0 1 4
IGHMBP2 2 1 1 0 0 4
KARS1 0 2 2 0 0 4
KCNH1 1 2 1 0 0 4
KDM6A 2 0 2 0 0 4
LAMA4, LOC101927640 0 0 2 2 0 4
LOC114803470, SCN8A 0 0 2 2 0 4
MAN2B1 3 1 0 0 0 4
MORC2 1 0 3 0 0 4
MTOR 0 0 4 0 0 4
NDUFA1 0 1 0 1 2 4
NKX2-1, SFTA3 4 0 0 0 0 4
NUBPL 2 1 1 0 0 4
PAH 4 0 0 0 0 4
PCNT 4 0 0 0 0 4
RAB39B 0 0 1 3 0 4
RARS2 1 1 2 0 0 4
RPL10 0 0 0 2 2 4
SACS 3 0 1 0 0 4
SETBP1 1 0 3 0 0 4
SETD5 2 1 1 0 0 4
SOX11 2 0 2 0 0 4
SOX3 0 0 0 1 3 4
SURF1 2 1 1 0 0 4
TCF20 4 0 0 0 0 4
TFAP2A 1 2 1 0 0 4
TH 1 0 3 0 0 4
THOC2 0 0 4 0 0 4
TRIP12 3 0 1 0 0 4
UBE2A 0 1 3 0 0 4
VRK1 2 0 2 0 0 4
WNT10A 2 0 2 0 0 4
ZNF335 2 1 1 0 0 4
ACO2 0 3 0 0 0 3
ACTG1 1 0 2 0 0 3
AGTR2 0 0 0 1 2 3
ALG3 1 0 2 0 0 3
AP4S1 1 2 0 0 0 3
ATP6V1B1 3 0 0 0 0 3
BCL11A 1 1 1 0 0 3
BCL11B 0 2 1 0 0 3
BICD2 0 1 2 0 0 3
BRPF1 3 0 0 0 0 3
BTD 2 0 1 0 0 3
CACNA1G 0 0 3 0 0 3
CASQ2, VANGL1 0 0 0 0 3 3
CASR 1 1 1 0 0 3
CHD3 0 0 3 0 0 3
CHD4 1 1 1 0 0 3
CIC 1 1 1 0 0 3
CIZ1, DNM1 1 1 0 0 1 3
COL1A1 1 1 1 0 0 3
COL27A1 1 2 0 0 0 3
COL6A1 0 1 2 0 0 3
COL6A3 1 1 1 0 0 3
COL7A1 2 0 1 0 0 3
CPLANE1, NIPBL 0 0 0 3 0 3
CSNK2B 0 1 2 0 0 3
CYP21A2, LOC106780800 3 0 0 0 0 3
DOCK8 1 0 2 0 0 3
DONSON 1 1 0 0 1 3
DYNC2H1 0 0 3 0 0 3
ERCC6 3 0 0 0 0 3
EYA4, TARID 0 0 0 2 1 3
FANCI, POLG 0 0 0 0 3 3
FKBP14 1 1 0 1 0 3
FLVCR1 0 2 1 0 0 3
G6PD 2 1 0 0 0 3
GAA 3 0 0 0 0 3
GABBR2 1 0 2 0 0 3
GJB1 1 0 1 1 0 3
GJB2 3 0 0 0 0 3
GJC2 1 1 1 0 0 3
GMPPB 1 0 2 0 0 3
HSD17B3 2 1 0 0 0 3
KCNQ5 0 0 3 0 0 3
KMT5B 1 1 1 0 0 3
LAMA1 1 1 1 0 0 3
LOC106736614, RET 0 0 3 0 0 3
LOC108281134, SOX3 0 0 0 0 3 3
LZTR1 0 2 1 0 0 3
MAGEL2 3 0 0 0 0 3
MAP2K1 2 0 1 0 0 3
MEA1, PPP2R5D 0 2 1 0 0 3
MFN2 1 1 1 0 0 3
MYH3 1 1 1 0 0 3
NAGLU 2 1 0 0 0 3
NDP 0 0 2 0 1 3
NDUFB3 3 0 0 0 0 3
NEB, RIF1 1 0 2 0 0 3
NFIX 2 0 1 0 0 3
NR2F2 2 1 0 0 0 3
NTRK1 1 2 0 0 0 3
OTOGL 0 1 2 0 0 3
PARS2 0 1 2 0 0 3
PAX9 1 0 2 0 0 3
PDGFRB 0 1 2 0 0 3
PIK3CA 1 1 1 0 0 3
PKHD1 0 0 3 0 0 3
POU3F3 0 2 1 0 0 3
PPM1D 1 1 1 0 0 3
PYCR1 3 0 0 0 0 3
RBM10 2 0 1 0 0 3
SAMD9 1 0 2 0 0 3
SCN2B 0 0 2 1 0 3
SF3B4 2 1 0 0 0 3
SGSH 2 0 1 0 0 3
SOX2, SOX2-OT 1 1 1 0 0 3
SPG7 3 0 0 0 0 3
SPTBN2 0 1 2 0 0 3
SRCAP 3 0 0 0 0 3
SRPX2 0 0 0 3 0 3
STIL 0 2 0 1 0 3
SYP 0 0 2 1 0 3
TGDS 1 0 2 0 0 3
TNFRSF1A 0 3 0 0 0 3
TRMU 1 1 1 0 0 3
TSPAN7 0 0 1 0 2 3
TUBB4A 2 0 1 0 0 3
TYR 3 0 0 0 0 3
UBE3B 2 1 0 0 0 3
VARS2 1 1 1 0 0 3
VWF 1 1 1 0 0 3
WAC 1 0 2 0 0 3
WDR26 1 0 2 0 0 3
ZNF674 0 0 1 0 2 3
AARS2 2 0 0 0 0 2
ABCA12 0 0 2 0 0 2
ABL2 0 0 2 0 0 2
ACP5, ZNF627 2 0 0 0 0 2
ACTA1 1 1 0 0 0 2
ADAR 2 0 0 0 0 2
ADGRG1 1 1 0 0 0 2
AGK 2 0 0 0 0 2
AHCY 0 1 1 0 0 2
AIFM1, RAB33A 0 0 2 0 0 2
AKT3 0 1 1 0 0 2
ALDH5A1 1 0 1 0 0 2
ALG1 2 0 0 0 0 2
ALPL 0 0 2 0 0 2
ALS2 2 0 0 0 0 2
AMPD2 0 2 0 0 0 2
AMT 0 0 2 0 0 2
ANO3 0 1 1 0 0 2
AP1S2 0 0 1 0 1 2
AP4B1, DCLRE1B 0 0 1 0 1 2
APAF1 0 0 2 0 0 2
ARSE 0 0 2 0 0 2
ASH1L 0 0 2 0 0 2
ASNS, CZ1P-ASNS 0 0 2 0 0 2
ATL1 0 2 0 0 0 2
ATP2B3 0 1 1 0 0 2
ATP6V0A4 2 0 0 0 0 2
ATP6V1A 0 0 2 0 0 2
AVPR2 0 2 0 0 0 2
B3GALNT2 0 1 1 0 0 2
BCS1L 1 1 0 0 0 2
BMP7 1 0 1 0 0 2
BPTF 1 1 0 0 0 2
CACNA1D 0 1 1 0 0 2
CAMK2B 0 1 1 0 0 2
CANT1 2 0 0 0 0 2
CBL 1 0 1 0 0 2
CC2D2A 0 2 0 0 0 2
CCN6 2 0 0 0 0 2
CCND2 1 1 0 0 0 2
CDC42 2 0 0 0 0 2
CEP135 0 0 2 0 0 2
CEP152 0 0 2 0 0 2
CEP63 2 0 0 0 0 2
CHRNG 2 0 0 0 0 2
CHSY1 0 0 2 0 0 2
CIT 0 0 2 0 0 2
COL11A1 1 1 0 0 0 2
COL11A2 0 1 1 0 0 2
COL4A2 0