ClinVar Miner

Variants from Sema4, Sema4

Location: United States  Primary collection method: curation
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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
368 312 5344 4348 1503 11875

Gene and significance breakdown #

Total genes and gene combinations: 200
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 84 18 262 257 89 710
TSC2 0 0 186 244 123 553
APC 3 7 252 139 60 461
ATM 24 20 219 114 32 409
BRCA1 43 14 118 156 52 383
MSH6 13 6 204 121 24 368
NF1 4 3 161 141 48 357
SMARCA4 0 1 90 135 74 300
MSH2 7 5 138 77 34 261
PMS2 13 10 138 73 19 253
DICER1 1 1 132 91 24 249
PALB2 23 11 114 84 17 249
TSC1 0 0 81 76 58 215
POLE 0 0 52 111 46 209
ATM, C11orf65 15 14 104 62 11 206
AXIN2 0 2 103 72 28 205
BRIP1 11 11 115 53 13 203
BARD1 5 11 98 56 12 182
CDH1 1 5 69 67 40 182
RECQL4 3 5 88 73 12 181
MLH1 6 5 79 55 29 174
MSH3 0 8 125 38 3 174
CHEK2 11 17 100 31 3 162
ALK 0 0 56 58 41 155
POLD1 0 0 48 63 42 153
NBN 2 10 83 45 9 149
SLX4 0 2 69 64 5 140
MUTYH 14 9 70 39 6 138
RTEL1, RTEL1-TNFRSF6B 0 0 71 62 3 136
PTCH1 0 0 35 76 22 133
BLM 4 3 65 49 5 126
STK11 1 0 42 50 31 124
RET 6 0 44 59 12 121
FANCA 3 5 54 46 10 118
NTHL1 2 8 75 26 0 111
RAD51D, RAD51L3-RFFL 6 7 48 38 4 103
FANCM 2 2 60 26 3 93
MET 0 0 44 39 10 93
TP53 5 5 29 39 12 90
EGFR 0 0 39 43 6 88
SDHA 3 5 27 33 17 85
RB1 0 1 34 26 23 84
BMPR1A 0 0 43 25 11 79
RAD50 3 6 35 25 7 76
RAD51C 8 2 44 17 4 75
FLCN 1 1 34 31 6 73
CTC1 0 4 42 25 1 72
FANCD2, LOC107303338 1 2 27 30 7 67
ERCC2 1 2 31 28 4 66
FANCI 0 2 37 23 4 66
SMAD4 0 0 30 28 8 66
BIVM-ERCC5, ERCC5 0 0 31 32 1 64
PTEN 1 1 17 23 18 60
TERT 0 0 24 30 6 60
BAP1 0 0 20 19 19 58
BRCA1, LOC126862571 6 2 18 26 6 58
CFTR 5 4 17 19 10 55
FH 3 2 22 21 7 55
ERCC3 1 2 25 23 0 51
FANCB 0 0 14 30 6 50
CDKN2A 1 4 21 16 6 48
DIS3L2 0 1 24 22 1 48
MRE11 0 0 24 19 5 48
ERCC4 0 2 27 15 3 47
XPC 0 0 26 18 2 46
DHFR, MSH3 0 1 15 16 12 44
POT1 1 4 17 20 2 44
RUNX1 0 1 19 16 8 44
MEN1 0 1 12 16 13 42
NF2 0 1 14 17 9 41
CDKN1B 0 0 16 18 6 40
PDGFRA 0 0 16 19 5 40
VHL 0 2 16 14 6 38
CDKN1C 0 0 12 15 10 37
GATA2 0 0 18 17 2 37
AOPEP, FANCC 0 0 19 13 4 36
CEBPA 0 3 23 7 3 36
LOC100507346, PTCH1 0 0 9 17 5 31
POLH 0 0 11 18 2 31
FANCG 0 1 19 10 0 30
FANCA, ZNF276 1 0 15 11 2 29
FANCF 1 2 13 11 2 29
LOC107303340, VHL 0 0 13 12 4 29
SDHB 3 0 12 4 10 29
FANCL 0 1 15 10 2 28
KIT 0 0 9 10 9 28
AIP 0 0 12 13 2 27
SMARCB1 0 0 11 8 8 27
FANCE 0 1 15 8 2 26
LOC107982234, WT1 0 0 14 9 3 26
TINF2 0 0 17 7 2 26
TMEM127 0 2 14 5 3 24
FANCD2, FANCD2OS 1 2 18 2 0 23
PRSS1, TRB 2 2 8 9 2 23
SUFU 0 0 13 9 1 23
GPC3 0 0 3 12 7 22
PRKAR1A 0 0 6 7 8 21
SDHC 0 0 9 7 5 21
XPA 0 2 11 7 1 21
XRCC2 0 1 15 5 0 21
WT1 0 1 6 10 3 20
HRAS, LRRC56 0 0 10 6 2 18
PHOX2B 0 0 8 8 1 17
DDB2 0 0 8 8 0 16
LOC130062899, STK11 0 0 8 6 2 16
CPA1 0 0 4 11 0 15
DKC1 0 0 5 8 2 15
SDHD 2 1 5 4 3 15
CASR 0 0 3 9 2 14
HOXB13 0 0 5 9 0 14
LOC110011216, PHOX2B 0 0 2 6 6 14
SDHAF2 0 0 5 5 4 14
MITF 0 0 6 6 1 13
SPINK1 1 0 2 2 8 13
CDC73 0 0 7 3 2 12
LOC130002133, PTCH1 0 1 7 2 2 12
CDK4 0 0 0 7 4 11
FANCC 1 1 4 3 0 9
MAX 0 1 3 5 0 9
BIVM-ERCC5, ERCC5, LOC126861834 0 0 6 2 0 8
CDKN2A, LOC130001603 0 0 4 2 2 8
FANCA, LOC130059837 0 1 6 1 0 8
FANCE, LOC129996245 0 0 5 3 0 8
LOC126807437, MSH3 0 1 4 3 0 8
RAD50, TH2-LCR, TH2LCRR 0 1 6 1 0 8
AIP, LOC130006206 0 0 2 2 3 7
CFTR, LOC111674477 1 0 1 2 3 7
NHP2 0 0 3 2 2 7
PKD1, TSC2 0 0 1 2 4 7
BRCA1, LOC111589215 0 0 4 1 1 6
CTRC 0 0 1 3 2 6
EGFR, LOC126860048 0 0 4 1 1 6
FANCF, LOC130005443 0 0 3 2 1 6
LOC129390903, RAD51C 0 0 5 1 0 6
LOC129936244, XPC 0 0 5 1 0 6
RAD50, TH2LCRR 0 0 4 1 1 6
BRCA1, LOC110485084, LOC111589216 0 0 2 1 2 5
BRCA2, LOC106721785 0 0 1 3 1 5
EPCAM 0 0 0 0 5 5
MUTYH, TOE1 0 0 1 4 0 5
CFTR, LOC111674463 0 0 1 2 1 4
ERCC4, LOC130058543 0 0 4 0 0 4
FAM20A, PRKAR1A 0 0 0 2 2 4
FANCA, LOC112486223 1 0 2 1 0 4
LOC126860438, NBN 0 0 4 0 0 4
LOC130001411, RECQL4 0 0 2 1 1 4
LOC130004273, PTEN 0 0 1 3 0 4
LOC130004614, SUFU 0 0 3 1 0 4
CDK4, TSPAN31 0 0 1 2 0 3
CFTR, LOC111674472 0 1 0 2 0 3
FANCA, LOC132090450 1 0 2 0 0 3
FANCD2 0 0 2 1 0 3
FANCG, VCP 0 0 0 2 1 3
GNE 2 0 1 0 0 3
KLLN, LOC130004273, PTEN 0 0 0 2 1 3
LOC111811965, MIR4733HG, NF1 0 0 0 3 0 3
LOC129934333, TMEM127 1 0 1 1 0 3
LOC130009266, POLE 0 0 1 0 2 3
LOC130055403, TINF2 0 0 2 0 1 3
NOP10 0 0 1 2 0 3
CEBPA, LOC130064183 0 0 2 0 0 2
CFTR, LOC113633877 1 0 0 0 1 2
DDB2, LOC126861205 0 0 1 1 0 2
EYS 0 2 0 0 0 2
FANCL, VRK2 0 0 0 2 0 2
FBXO11, MSH6 0 0 0 0 2 2
HEXA 1 1 0 0 0 2
LOC106736614, RET 0 0 1 1 0 2
LOC110806263, TERT 0 0 2 0 0 2
LOC126861339, SDHD 0 0 1 0 1 2
LOC129933707, MSH6 0 0 1 1 0 2
LOC130058210, TSC2 0 0 1 0 1 2
LOC130061310, RAD51C 0 0 1 1 0 2
NF1, OMG 0 0 0 1 1 2
BRCA1, LOC110485084 0 0 0 1 0 1
CDH1, LOC130059290 0 0 0 0 1 1
CDK4, LOC130008148 0 0 0 1 0 1
CHURC1-FNTB, FNTB, LOC126861966, MAX 0 0 0 1 0 1
CIAO1, LOC129934333, TMEM127 0 0 0 1 0 1
CTC1, PFAS 0 0 0 1 0 1
DCTN5, PALB2 1 0 0 0 0 1
DKC1, LOC130068886 0 0 0 0 1 1
DNAH5 0 1 0 0 0 1
DYSF 0 1 0 0 0 1
FANCD2, LOC107303338, VHL 0 0 0 1 0 1
FANCM, LOC130055524 0 0 1 0 0 1
GREM1 0 0 0 0 1 1
LOC110806306, TERC 0 0 1 0 0 1
LOC113687193, POT1 0 0 1 0 0 1
LOC126862483, TP53, WRAP53 0 0 1 0 0 1
LOC129929542, SDHB 0 0 0 1 0 1
LOC129996521, POLH 0 0 1 0 0 1
LOC130004274, PTEN 0 0 0 1 0 1
LOC130055850, MAX 0 0 1 0 0 1
MPZ, SDHC 0 0 0 0 1 1
NHP2, RMND5B 0 0 1 0 0 1
NTHL1, TSC2 0 0 0 1 0 1
PEX6 0 1 0 0 0 1
USH2A 0 1 0 0 0 1
VRK1 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary cancer-predisposing syndrome 340 257 4571 3706 1381 10255
Fanconi anemia 10 20 339 274 46 689
Dyskeratosis congenita 0 4 168 135 18 325
Xeroderma pigmentosum 2 8 150 119 12 291
Hereditary pancreatitis 10 7 34 50 27 128
Nijmegen breakage syndrome-like disorder 3 7 45 27 8 90
Perlman syndrome 0 1 24 22 1 48
Beckwith-Wiedemann syndrome 0 0 12 15 10 37
GNE myopathy 2 0 1 0 0 3
Retinitis pigmentosa 25 0 2 0 0 0 2
Tay-Sachs disease 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 0 0 1
Peroxisome biogenesis disorder 4A (Zellweger) 0 1 0 0 0 1
Pontocerebellar hypoplasia type 1A 0 1 0 0 0 1
Primary Ciliary Dyskinesia (DNAH5-related) 0 1 0 0 0 1
Usher syndrome type 2A 0 1 0 0 0 1

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