ClinVar Miner

Variants from Genome Diagnostics Laboratory, The Hospital for Sick Children

Location: Canada  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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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
528 411 3642 1517 1361 7439

Gene and significance breakdown #

Total genes and gene combinations: 324
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 183 88 71 23 25 390
ZNF469 0 3 124 55 34 216
TNXB 0 7 107 31 48 193
SACS 10 6 86 36 13 151
COL1A1 22 21 52 29 18 142
NLRP12 0 3 92 28 14 137
FBN2 0 1 47 37 37 122
SPG11 13 8 69 17 15 122
NOD2 0 1 63 42 12 118
ZFYVE26 4 3 58 29 21 115
AP5Z1 2 4 69 12 13 100
MEFV 3 5 69 8 10 95
COL5A1 3 4 35 34 18 94
CARD14 0 0 59 20 12 91
KIF1A 2 3 55 18 11 89
HSPG2 0 0 32 29 27 88
LYST 0 2 48 22 12 84
LPIN2 0 1 59 13 10 83
ADAMTS2 0 0 47 12 14 73
NLRP3 3 4 36 20 11 73
UNC13D 7 8 44 9 5 73
COL1A2 8 13 35 11 6 72
SPAST 24 20 24 2 2 72
NLRC4 0 2 47 15 7 71
PSTPIP1 0 0 40 24 7 71
TECPR2 0 0 51 12 8 71
LRP5 2 4 31 22 11 70
SETX 0 0 44 18 6 68
SOS1 9 3 26 12 16 66
CFTR 34 11 21 1 7 64
PTPN11 32 5 16 3 7 63
SPG7 12 6 29 8 7 62
FLNB 0 2 27 15 15 59
CBL 1 2 33 8 13 57
COL3A1 1 6 27 10 12 56
COL5A2 0 0 27 12 16 55
KIF1C 0 1 36 6 9 52
COL2A1 5 13 8 8 17 51
PNPLA6 1 2 30 10 7 50
TRIP11 1 2 12 13 19 47
BRAF 7 2 15 8 14 46
PRF1 3 5 26 5 7 46
ADA2 2 4 33 5 1 45
NPHS1 0 4 19 14 8 45
TNFRSF1A 0 3 30 10 1 44
SPRED1 6 5 14 5 13 43
FBN1 4 4 12 11 10 41
CFH 0 2 11 12 15 40
LZTR1 1 5 15 5 14 40
ALS2 0 0 30 6 3 39
ELANE 1 2 19 12 4 38
KIF5A 1 2 18 11 6 38
WASHC5 0 1 27 6 4 38
AP3B1 1 0 14 13 9 37
STING1 0 0 22 8 7 37
CARD14, SGSH 0 0 12 14 10 36
MVK 4 3 18 5 6 36
STXBP2 2 0 16 9 9 36
PLOD1 2 2 17 4 10 35
RAF1 4 2 14 9 5 34
MAP2K2 0 1 14 6 12 33
COL4A4 0 1 5 9 17 32
POLG, POLGARF 0 1 22 6 3 32
XYLT2 0 0 18 7 7 32
C3 0 0 15 11 5 31
PRDM5 1 0 21 4 5 31
AP4E1 0 0 22 7 1 30
PGAP1 0 0 21 5 4 30
PSMB8 0 1 20 2 7 30
ALPL 6 5 10 5 3 29
INF2 1 2 8 8 10 29
RAB27A 2 3 21 3 0 29
COL11A2 0 0 6 14 8 28
DDHD1 1 0 20 4 3 28
NPHP4 1 1 9 11 6 28
P3H1 1 2 13 5 7 28
ALDH18A1 0 1 16 5 5 27
CYP2U1 1 2 19 3 2 27
L1CAM 0 0 11 12 4 27
LIFR 0 0 17 3 7 27
ACTN4 0 0 8 11 7 26
ATP7A 0 0 11 11 4 26
COL5A1, LOC101448202 1 2 8 9 6 26
POLG 5 2 8 5 6 26
TRPV4 0 1 10 5 10 26
AP4M1 1 0 19 1 4 25
DDHD2 1 1 14 8 1 25
GBA2 0 1 17 3 4 25
IL1RN 0 1 16 3 5 25
SOS2 0 0 3 2 20 25
COL11A1 0 0 9 5 10 24
CYP7B1 4 2 13 3 2 24
FGFR3 5 0 9 3 7 24
HRAS, LRRC56 5 3 4 5 7 24
LAMB2 0 1 10 9 4 24
PLCE1 0 0 10 7 7 24
TTC21B 0 1 7 8 8 24
WDR19 1 1 15 2 5 24
AP4B1 0 1 13 4 5 23
COL9A3 0 2 5 3 13 23
FA2H 1 1 11 3 7 23
SHOC2 1 0 13 3 6 23
BSCL2, HNRNPUL2-BSCL2 1 0 18 2 1 22
CFI 1 2 7 5 7 22
IL36RN 1 1 17 2 1 22
BMP1 0 0 14 3 4 21
COL9A2 0 0 7 6 8 21
ENTPD1 0 0 18 2 1 21
HSPD1 0 0 8 6 7 21
IFT122 0 0 11 4 6 21
RIT1 7 3 8 2 1 21
LOC126862264, MEFV 5 1 9 2 3 20
TWNK 0 0 16 3 1 20
CFHR5 0 0 4 11 4 19
COL4A3, MFF-DT 0 1 5 3 10 19
GJC2 0 0 11 6 2 19
MAP2K1 1 1 6 4 7 19
NEK1 1 0 11 4 3 19
ATL1 3 3 2 7 3 18
FKBP10 0 0 14 2 2 18
NPHP3, NPHP3-ACAD11 0 0 11 3 4 18
REEP1 5 4 6 2 1 18
SLC39A13 0 0 14 2 2 18
SMAD3 1 1 11 3 2 18
SPART 0 0 15 2 1 18
SPG21 0 2 15 0 1 18
TGFBR1 0 0 11 1 6 18
TRPC6 0 1 7 6 4 18
CEP290 1 0 9 4 3 17
ITK 0 0 12 2 3 17
MYH9 0 0 2 4 11 17
RTN2 0 0 7 6 4 17
SLC26A2 3 1 6 2 5 17
TGFBR2 0 1 5 5 6 17
DSE 0 0 9 2 5 16
LBR 0 0 11 1 4 16
LOC106780803, TNXB 0 1 9 3 3 16
SLC7A7 1 0 11 2 2 16
SMARCAL1 0 0 8 2 6 16
VPS37A 0 0 10 4 2 16
ARSL 0 0 5 5 5 15
COL9A1 1 1 6 4 3 15
IFT80, TRIM59-IFT80 0 0 5 7 3 15
PLOD2 0 0 9 6 0 15
TGFB2 1 0 3 8 3 15
CARD14, LOC126862662, SGSH 0 0 8 2 4 14
CRTAP 1 0 9 2 2 14
MILR1, POLG2 0 0 8 4 2 14
SERPINF1 0 1 9 1 3 14
B4GALT7 0 0 12 0 1 13
C2, CFB 0 0 1 2 10 13
CFTR, LOC111674472 6 5 8 1 0 13
CLCN7 0 1 4 2 6 13
COMP 0 0 6 4 3 13
PTH1R 0 0 7 5 1 13
WDR35 0 0 7 2 4 13
CBS 1 0 7 1 3 12
NPHS2 1 1 2 4 4 12
PLA2R1 0 0 4 3 5 12
CD2AP 0 0 4 6 1 11
COL1A1, LOC126862586 3 2 5 0 1 11
COL4A5 0 2 3 1 5 11
MTRFR 0 0 7 3 1 11
NKX3-2 0 1 4 2 4 11
NRAS 3 2 4 2 0 11
SLC33A1 0 0 5 5 1 11
SOX9 1 2 4 1 3 11
STX11 0 0 7 1 3 11
THBD 0 0 3 5 3 11
UMOD 0 0 6 2 3 11
C19orf12 1 0 6 1 2 10
EIF2AK3 0 0 6 3 1 10
ERLIN1 0 1 7 2 0 10
KRAS 1 0 3 2 4 10
RPGRIP1L 0 0 3 2 5 10
WNT1 0 0 8 2 0 10
CD46 0 0 3 3 3 9
DDR2 0 0 2 4 3 9
SLC16A2 0 1 3 4 1 9
SP7 0 0 7 1 1 9
CFB 0 0 4 3 1 8
DGKE 2 0 4 1 1 8
DYM 0 0 2 2 4 8
ERLIN2 0 0 6 0 2 8
FBN2, LOC126807501 0 0 4 2 2 8
HSPG2, LDLRAD2 0 0 2 5 1 8
IFITM5 0 0 2 4 2 8
MATN3 0 0 5 1 2 8
NIPA1 1 0 5 1 1 8
SDCCAG8 0 2 4 1 1 8
SERPINH1 0 0 5 2 1 8
TMEM38B 0 0 5 1 2 8
XIAP 0 1 5 0 2 8
CHST14 0 0 5 2 0 7
FKBP14 0 0 3 3 1 7
KIF1C, LOC126862473 0 0 4 1 2 7
LOC130056709, NIPA1 0 0 2 4 1 7
NSDHL 0 0 2 2 3 7
PDSS2 0 0 5 0 2 7
PLS3 0 0 4 2 1 7
WT1 2 1 2 1 1 7
AP4S1 0 0 3 3 0 6
COL9A3, LOC126863084 0 0 0 2 4 6
COQ8B 0 0 0 4 2 6
CYLD, NOD2 0 0 4 1 1 6
GLIS2 0 0 0 5 1 6
INVS 0 0 3 2 1 6
KIRREL2, NPHS1 0 0 3 1 2 6
LMX1B 0 0 2 1 3 6
LOC112533672, UNC13D 1 0 3 1 1 6
LOC123522803, STING1 0 0 4 1 1 6
LOC130059818, SPG7 0 0 4 0 2 6
MYO1E 0 0 0 6 0 6
PEX7 1 0 3 1 1 6
REN 0 0 3 2 1 6
SH2D1A 0 3 2 0 1 6
SLC35D1 0 0 4 1 1 6
SPARC 0 0 1 2 3 6
CBL, FRA11B, LOC130006894 0 0 5 0 0 5
CD27 0 0 3 1 1 5
CFHR2 0 0 0 3 2 5
CNNM2, NT5C2 0 0 3 1 1 5
HSPG2, LOC126805655 0 0 3 0 2 5
LOC111811965, MIR4733HG, NF1 2 2 1 0 0 5
LOC126860498, WASHC5 0 0 2 2 1 5
PLP1, RAB9B 1 0 3 0 1 5
PPIB 0 0 4 0 1 5
SHOX 0 0 1 1 3 5
TMEM67 0 0 4 1 0 5
XPNPEP3 0 0 5 0 0 5
AXDND1, NPHS2 1 0 1 1 1 4
CBL, LOC130006895 0 0 2 1 1 4
CFHR4 0 0 1 3 0 4
CFTR, LOC111674477 1 0 2 1 1 4
COQ2, LOC112997540 0 1 0 2 1 4
EBP 0 1 2 1 0 4
FANCI, POLG 0 0 1 0 3 4
IFT43 0 0 4 0 0 4
KIF1A, LOC126806583 0 0 2 2 0 4
LOC130059891, SERPINF1 0 0 2 1 1 4
MAP2K1, SNAPC5 0 0 2 1 1 4
MATN3, WDR35-DT 0 0 1 1 2 4
MBTPS2 0 0 1 3 0 4
NPHP1 0 0 1 2 1 4
NT5C2 0 0 4 0 0 4
BMP1, LOC113788269 0 0 3 0 0 3
CFHR3 0 0 1 1 1 3
CFTR, LOC111674475 3 0 0 0 0 3
CRTAP, LOC129936436 0 0 3 0 0 3
KIF1C, LOC126862472 0 0 2 1 0 3
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 0 3 0 3
LOC130009366, SACS 0 0 3 0 0 3
LOC130067016, LZTR1 0 0 0 1 2 3
MCOLN1, PNPLA6 0 0 0 0 3 3
NEK8 0 0 2 1 0 3
SCARB2 0 0 1 0 2 3
TCIRG1 0 0 1 0 2 3
TNFRSF11A 0 0 1 0 2 3
AP4B1, DCLRE1B, LOC129931235 0 0 2 0 0 2
AP5Z1, LOC129997861 0 0 0 1 1 2
BLOC1S6 0 0 1 0 1 2
BRAF, LOC126860202 0 0 0 1 1 2
CD46, LOC129932405 0 1 0 0 1 2
CFTR, LOC113664106 2 0 0 0 0 2
COL4A3, LOC129935730 0 0 0 2 0 2
COQ2 0 0 2 0 0 2
CYP2U1, LOC129992929 0 0 1 0 1 2
EIF2AK3, LOC101928371 0 0 0 2 0 2
FA2H, LOC130059394 0 0 2 0 0 2
FLNB, LOC129936935 0 0 0 2 0 2
KRAS, LOC130007561 0 0 2 0 0 2
LOC107652445, SHOX 0 1 0 0 1 2
LOC107982234, WT1 0 0 0 1 1 2
LOC108021846, SOX9 0 1 1 0 0 2
LOC126807556, SPARC 0 0 1 0 1 2
LOC129389144, PLOD2 0 0 2 0 0 2
LOC129933535, SOS1 0 0 1 1 0 2
LOC130009662, TNFSF11 0 0 0 0 2 2
LOC130064702, RTN2 0 0 2 0 0 2
MMAB, MVK 0 0 1 0 1 2
PPIB, SNX22 0 0 2 0 0 2
REG1A 0 0 1 1 0 2
TNFSF11 0 0 1 0 1 2
AP5Z1, LOC129997864 0 0 1 0 0 1
AP5Z1, MIR4656 0 0 1 0 0 1
B4GALT7, LOC129995400 0 0 1 0 0 1
BMP1, LOC129999976 0 0 1 0 0 1
CD27, LOC130007242 0 0 1 0 0 1
CFHR1 0 0 0 0 1 1
CYP21A2, LOC106780803, TNXB 0 0 1 0 0 1
CYP7B1, LOC130000507 0 0 1 0 0 1
DNAJB7, XPNPEP3 0 0 0 0 1 1
EVI2A, NF1 0 1 0 0 0 1
EZH2 0 1 0 0 0 1
IFITM5, LOC130005046 0 0 0 1 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFT122, LOC126806810 0 0 0 0 1 1
INVS, LOC130002251 0 0 0 0 1 1
LOC107548112, REN 0 0 0 1 0 1
LOC126860782, SETX 0 0 0 1 0 1
LOC126861752, TNFSF11 0 0 0 0 1 1
LOC126861753, TNFSF11 0 0 0 0 1 1
LOC126863137, MYH9 0 0 0 1 0 1
LOC126863212, OFD1, TRAPPC2 0 0 1 0 0 1
LOC129935332, PGAP1 0 0 1 0 0 1
LOC130002223, TGFBR1 0 0 1 0 0 1
LOC130007233, SCNN1A, TNFRSF1A 0 0 1 0 0 1
LOC130055323, SLC7A7 0 0 0 0 1 1
LOC130055588, SOS2 0 0 1 0 0 1
LOC130056519, TECPR2 0 0 1 0 0 1
LOC130057352, SMAD3 0 0 1 0 0 1
LOC130057651, PSTPIP1 0 0 0 1 0 1
LOC130059719, ZNF469 0 0 1 0 0 1
LOC130059892, SERPINF1 0 0 1 0 0 1
LOC130061160, XYLT2 0 0 1 0 0 1
LOC130063193, MAP2K2 0 0 1 0 0 1
LOC130063377, PNPLA6 0 0 1 0 0 1
MIR6766, POLG 0 0 0 1 0 1
MKRN2, RAF1 0 0 0 0 1 1
NOC3L, PLCE1 0 0 0 0 1 1
OFD1, TRAPPC2 0 1 0 0 0 1
PLEKHM1 0 0 0 0 1 1
SMARCA4 0 1 0 0 0 1
TNFRSF11B 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary spastic paraplegia 95 79 1071 337 226 1808
Autoinflammatory syndrome 36 54 893 305 192 1480
Ehlers-Danlos syndrome 14 32 607 274 257 1184
Connective tissue disorder 24 35 335 208 268 870
Noonan syndrome and Noonan-related syndrome 78 33 202 81 145 539
Osteogenesis imperfecta 41 44 209 91 75 460
Neurofibromatosis, type 1 185 91 72 23 25 396
Kidney disorder 4 11 136 112 57 320
Focal segmental glomerulosclerosis 3 7 49 53 85 197
Atypical hemolytic-uremic syndrome 3 5 43 44 58 153
CFTR-related disorder 46 16 15 3 4 84
Cystic fibrosis 43 4 25 3 8 83
Increased bone mineral density 0 2 7 5 21 35
Hereditary cancer-predisposing syndrome; Childhood neoplasm 0 2 0 0 0 2
Metachondromatosis 0 1 0 0 0 1

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