ClinVar Miner

Variants from Integrated Genetics/Laboratory Corporation of America

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 not provided total
2253 1293 4837 1034 2102 25 11541

Gene and significance breakdown #

Total genes and gene combinations: 473
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA2 270 91 776 134 93 0 1364
BRCA1 186 50 408 97 58 0 799
CFTR 103 47 199 16 12 0 377
FBN1 33 93 175 19 29 0 349
MSH6 38 26 180 28 37 0 309
APC 10 9 176 40 38 0 273
ATM 27 11 184 19 14 0 255
PMS2 16 13 162 15 17 0 223
MSH2 29 18 132 11 23 0 213
MLH1 30 28 96 19 16 0 189
ATP7B 59 18 57 10 22 0 165
PALB2 11 17 106 16 13 0 163
ATM, C11orf65 20 5 95 11 6 0 137
LDLR 51 20 49 8 5 0 133
HBB, LOC106099062, LOC107133510 61 10 50 10 0 0 131
BRIP1 6 10 89 12 13 0 130
CDH1 3 4 76 16 20 0 119
GCK 5 79 15 9 1 0 109
CHEK2 6 9 74 10 6 0 105
BARD1 3 3 73 8 7 0 94
RYR2 1 3 32 12 46 0 94
PKHD1 16 16 26 11 20 0 89
MEFV 13 1 55 8 10 0 87
MUTYH 12 10 57 2 4 0 85
NBN 3 8 62 6 6 0 85
PAH 72 7 1 1 4 0 85
GALT 22 15 32 4 8 0 81
DSP 1 5 30 17 26 0 79
GJB2 35 5 17 8 7 0 72
HBB, LOC107133510, LOC110006319 16 2 44 8 1 0 71
STK11 2 2 36 9 21 0 70
PTPN11 34 7 14 5 7 0 67
SCN5A 3 6 29 12 16 0 66
GLA, RPL36A-HNRNPH2 33 18 8 4 2 0 65
SOS1 6 1 40 6 10 0 63
GAA 34 5 11 5 7 0 62
NF1 1 0 18 5 38 0 62
MECP2 15 4 20 6 15 0 60
TP53 4 6 32 11 7 0 60
ANK2 0 1 18 10 30 0 59
RAD51C 5 3 44 0 6 0 58
MYBPC3 20 4 15 9 6 0 54
POLE 0 0 5 5 44 0 54
ALMS1 0 1 26 6 20 0 53
RAD51D, RAD51L3-RFFL 3 1 36 6 4 0 50
CFTR, LOC111674472 15 7 22 1 4 0 49
NEB 6 5 3 0 34 0 48
COL3A1 1 9 14 7 16 0 47
PCSK9 2 2 17 4 19 0 44
POLD1 0 0 1 5 38 0 44
ABCC8 14 15 8 1 3 1 42
HNF1A 1 23 8 4 1 5 42
MAP2K2 0 0 16 10 15 0 41
PKP2 8 6 15 7 5 0 41
ABRAXAS1 0 1 24 8 7 0 40
BLM 10 7 10 3 9 0 39
COL1A1 4 22 6 5 2 0 39
GBA, LOC106627981 24 7 3 1 4 0 39
BMPR1A 1 1 24 6 6 0 38
LOC107303340, VHL 23 5 8 1 1 0 38
SMAD4 0 1 21 9 7 0 38
SMPD1 15 7 4 1 10 0 37
TTR 15 2 10 2 8 0 37
HEXA 21 5 6 2 2 0 36
PTEN 1 0 27 2 5 0 35
CACNA1C 0 2 8 5 19 0 34
KCNH2 7 5 10 3 9 0 34
BRAF 2 1 13 1 15 0 32
MYH11 0 1 8 3 20 0 32
VHL 16 8 5 1 2 0 32
CDKN2A 2 0 22 4 3 0 31
MYH6 0 0 10 10 11 0 31
MYH7 7 2 18 3 1 0 31
TSC2 1 0 2 1 27 0 31
CASR 1 20 4 4 1 0 30
COL1A2 1 10 9 8 2 0 30
BTK 7 16 5 0 1 0 29
RAF1 3 4 11 5 6 0 29
TGFBR2 1 5 9 2 12 0 29
NPHS1 13 6 2 1 6 0 28
PMM2 17 4 3 0 3 0 27
RAD50 0 1 6 7 13 0 27
KCNQ1 12 1 6 3 4 0 26
SMN1 1 3 22 0 0 0 26
DSG2 0 0 13 5 7 0 25
HNF4A 0 9 6 7 1 2 25
ALK 0 0 2 1 21 0 24
DSC2 0 1 10 5 8 0 24
MRE11 0 0 6 2 16 0 24
MEN1 3 11 3 1 1 4 23
MMACHC 15 2 4 0 2 0 23
NEB, RIF1 4 7 2 0 10 0 23
ABCA1 0 0 5 6 11 0 22
AIRE 4 4 6 4 4 0 22
DHCR7 12 3 3 2 2 0 22
JUP 0 0 12 2 8 0 22
PRSS1, TRB 3 2 12 1 4 0 22
CBS 13 4 2 0 2 0 21
CFTR, LOC111674475 13 1 6 0 1 0 21
GALC 12 1 3 1 4 0 21
HNF1B 0 10 5 4 2 0 21
MMUT 18 1 0 0 2 0 21
STAT3 2 7 8 0 4 0 21
AXIN2 0 0 4 2 14 0 20
CYBB 5 4 6 3 2 0 20
LMNA 1 5 3 1 10 0 20
SLC22A5 13 1 0 0 6 0 20
ABCC9 0 2 5 3 9 0 19
ACADM 9 4 3 1 2 0 19
AGL 15 1 0 0 3 0 19
CFTR, LOC111674477 3 4 11 1 0 0 19
IDUA 11 1 2 0 5 0 19
PRKAR1A 0 0 9 4 6 0 19
SURF1 7 2 5 1 4 0 19
ADAMTS2 1 0 0 2 15 0 18
FBN2 0 0 0 0 18 0 18
GNPTAB 8 3 2 0 5 0 18
HRAS, LRRC56 4 3 4 2 5 0 18
MYH11, NDE1 0 2 4 4 8 0 18
PTCH1 0 0 0 3 15 0 18
SOS2 0 0 0 0 18 0 18
BBS10 7 2 3 3 2 0 17
BBS2 6 5 1 2 3 0 17
COL5A1 0 0 0 0 17 0 17
FANCC 6 6 1 1 3 0 17
HGSNAT 5 0 9 0 3 0 17
JAK3 0 4 2 3 8 0 17
SGSH 10 1 2 0 4 0 17
SPINK1 3 1 9 2 2 0 17
TGFBR1 2 0 9 3 3 0 17
TNNT2 2 1 8 1 5 0 17
CHD7 2 0 3 2 9 0 16
PEX6 2 5 1 0 8 0 16
RMRP 6 10 0 0 0 0 16
SNTA1 0 0 10 1 5 0 16
WAS 6 6 2 1 1 0 16
AVPR2 2 12 0 0 0 1 15
KRAS 1 1 7 2 4 0 15
LDB3 0 0 1 3 11 0 15
LOC102724058, SCN1A 1 2 7 0 5 0 15
NPC1 10 2 2 0 1 0 15
PCDH15 5 1 1 1 7 0 15
PRKAG2 0 2 4 4 5 0 15
RTEL1, RTEL1-TNFRSF6B 3 5 1 0 6 0 15
TMEM43 1 0 5 2 7 0 15
TSC1 0 1 1 1 12 0 15
AOPEP, FANCC 1 4 2 1 6 0 14
GCDH 10 3 0 0 1 0 14
GLDC 5 4 2 1 2 0 14
LIG3 0 0 4 4 6 0 14
VCL 0 0 3 2 9 0 14
VPS13B 4 7 0 0 3 0 14
ALPL 5 4 2 0 2 0 13
CDK4, TSPAN31 0 0 8 3 2 0 13
DTNA 0 0 3 1 9 0 13
GALNS 4 1 2 0 6 0 13
LPL 0 0 3 3 7 0 13
PDX1 0 3 3 6 1 1 13
RB1 1 6 0 0 6 0 13
SCN1A 5 1 3 0 4 0 13
A2ML1 0 0 0 0 12 0 12
ARSA 8 2 1 0 1 0 12
CDK4 1 0 7 2 2 0 12
COL5A2 0 0 0 0 12 0 12
CYP11B1, LOC106799833 0 3 8 0 1 0 12
FKTN 2 3 3 2 2 0 12
G6PC 10 0 0 0 2 0 12
MAN2B1 7 1 0 0 4 0 12
MAP2K1 2 0 7 1 2 0 12
MET 0 0 1 0 11 0 12
PCCA 5 0 3 0 4 0 12
PCCB 9 0 1 0 2 0 12
SLC26A2 6 4 0 0 2 0 12
AGXT 5 1 2 2 1 0 11
ALDOB 7 2 1 0 1 0 11
ANKRD1 0 0 0 3 8 0 11
ATR 0 0 0 0 11 0 11
BAG3 0 0 0 0 11 0 11
CALR3 0 0 0 0 11 0 11
CTNS 6 2 1 0 2 0 11
DMD 0 0 0 0 11 0 11
DPYD 2 5 1 2 1 0 11
FLCN 3 1 0 1 6 0 11
LAMB3 7 1 1 0 2 0 11
RASA2 0 0 0 0 11 0 11
RET 3 1 4 0 3 0 11
ABCD1 3 3 3 1 0 0 10
ACTN2 0 0 1 4 5 0 10
ALDH3A2 8 0 1 0 1 0 10
ASS1 5 2 3 0 0 0 10
BCKDHB 7 3 0 0 0 0 10
HEXB 5 0 2 1 2 0 10
IFNGR1 1 1 2 3 3 0 10
IL2RG 1 8 1 0 0 0 10
LZTR1 0 0 0 0 10 0 10
SCN1B 1 1 1 1 6 0 10
SPRED1 0 0 0 0 10 0 10
ACAT1 4 2 0 0 3 0 9
ADA 5 2 1 0 1 0 9
ASPA, SPATA22 7 2 0 0 0 0 9
ELP1 1 1 3 0 4 0 9
FAH 6 1 0 0 2 0 9
HADHA 2 3 1 0 3 0 9
IL7R 1 6 2 0 0 0 9
NKX2-5 1 0 2 3 3 0 9
NOS1AP 0 0 4 1 4 0 9
RAG1 2 4 0 1 2 0 9
SDHB 1 1 1 1 4 1 9
SLC37A4 4 3 0 0 2 0 9
TPP1 5 2 0 0 2 0 9
ACADVL 4 4 0 0 0 0 8
ACTC1, LOC101928174 1 1 4 0 2 0 8
ARSB 5 1 1 1 0 0 8
ASL 7 0 0 0 1 0 8
CACNB2, NSUN6 0 0 1 1 6 0 8
CD40LG 2 3 1 0 2 0 8
COL4A3, LOC654841 2 1 2 1 2 0 8
CPS1 0 2 1 0 5 0 8
CPT2 5 2 1 0 0 0 8
IKBKG 0 3 5 0 0 0 8
MC4R 3 1 3 0 0 1 8
MYL3 0 0 4 1 3 0 8
MYLK2 0 1 0 0 7 0 8
NAGLU 6 0 0 0 2 0 8
PEX12 4 3 1 0 0 0 8
RRAS 0 0 0 0 8 0 8
SLC17A5 5 2 0 0 1 0 8
SLC34A3 0 0 5 0 3 0 8
SUFU 0 0 0 0 8 0 8
TMPO 0 0 2 0 6 0 8
TNNI3 0 1 4 0 3 0 8
XPC 5 0 0 0 3 0 8
BBS1, ZDHHC24 3 2 1 0 1 0 7
CACNA1S 0 0 2 0 5 0 7
CASQ2 0 0 4 1 2 0 7
CD3E 0 0 5 2 0 0 7
ETHE1 4 1 1 0 1 0 7
GLB1 6 0 1 0 0 0 7
HLCS 6 1 0 0 0 0 7
KLLN, PTEN 0 0 3 1 3 0 7
MCOLN1 4 1 1 0 1 0 7
MYL2 0 0 4 1 2 0 7
NPHS2 3 0 2 1 1 0 7
PEX1 4 2 0 0 1 0 7
RAG2 0 4 2 0 1 0 7
SHOC2 1 0 5 1 0 0 7
TBX5 0 2 0 0 5 0 7
ACTA2 2 1 0 1 2 0 6
APOA5 0 0 0 0 6 0 6
APOB 2 0 3 0 1 0 6
BBS1 1 1 1 0 3 0 6
CD40 0 0 5 0 1 0 6
DES 0 0 2 0 4 0 6
FH 0 1 0 0 5 0 6
GAREM2, HADHA 3 1 1 0 1 0 6
GPC3 0 0 0 0 6 0 6
GRHPR 6 0 0 0 0 0 6
GUSB 4 0 0 0 2 0 6
HSD17B4 3 2 1 0 1 0 6
LOX 0 0 0 0 6 0 6
MHRT, MYH7 0 2 3 1 0 0 6
MMAB 3 1 0 0 2 0 6
NF2 1 0 0 0 5 0 6
PEX7 6 0 0 0 0 0 6
RYR1 0 0 5 1 0 0 6
SDHD 1 0 1 1 3 0 6
TNFRSF13B 0 0 2 1 3 0 6
AQP2, LOC101927318 1 2 0 1 0 1 5
AXDND1, NPHS2 3 1 0 0 1 0 5
CDC73 0 1 0 0 4 0 5
CYP11B1 0 2 0 0 1 2 5
CYP21A2, LOC106780800 0 0 2 3 0 0 5
DCLRE1C 0 0 2 0 3 0 5
KCNE1 0 0 3 1 1 0 5
LOC110121269, SCN5A 0 1 0 2 2 0 5
MITF 0 1 0 0 4 0 5
MPL 4 1 0 0 0 0 5
MRAS 0 0 0 1 4 0 5
MYLK 0 0 0 0 5 0 5
OTC 1 2 2 0 0 0 5
PEX2 4 0 0 0 1 0 5
PHEX 0 5 0 0 0 0 5
PHGDH 1 0 3 0 1 0 5
PPT1 4 1 0 0 0 0 5
SACS 2 1 0 0 2 0 5
SUMF1 2 0 0 0 3 0 5
TMEM216 2 0 0 0 3 0 5
TPM1 1 0 4 0 0 0 5
TTPA 2 1 0 0 2 0 5
XPA 3 1 0 0 1 0 5
APOA1 0 0 1 1 2 0 4
BCKDHA 1 2 0 0 1 0 4
BCS1L 3 1 0 0 0 0 4
CFTR, LOC113664106 3 1 0 0 0 0 4
CLN3 3 1 0 0 0 0 4
CLRN1 4 0 0 0 0 0 4
COL5A1, LOC101448202 0 0 0 0 4 0 4
CTSA 0 0 2 0 2 0 4
EFEMP2 0 0 0 0 4 0 4
EMD 0 1 1 1 1 0 4
EPCAM 0 0 2 0 2 0 4
FUCA1 3 0 0 0 1 0 4
GAMT 4 0 0 0 0 0 4
GHRHR 0 0 0 0 4 0 4
GPD1L 0 0 2 2 0 0 4
GSS 3 0 0 0 1 0 4
HMGCL 4 0 0 0 0 0 4
IDS 3 1 0 0 0 0 4
IDUA, SLC26A1 3 0 0 0 1 0 4
INS, INS-IGF2 0 1 0 0 1 2 4
KCNE2 0 0 1 2 1 0 4
KCNJ11 0 2 0 2 0 0 4
KCNQ1, KCNQ1OT1 1 0 0 0 3 0 4
LDLRAP1 0 0 2 0 2 0 4
LOC114827827, NPPA 0 0 1 1 2 0 4
MMAA 4 0 0 0 0 0 4
MYOZ2 0 0 0 0 4 0 4
PDHA1 0 1 2 0 1 0 4
PEX26 2 1 0 0 1 0 4
PHOX2B 0 0 0 0 4 0 4
PROP1 1 2 0 1 0 0 4
RIT1 0 0 0 0 4 0 4
SLC25A20 3 0 0 0 1 0 4
SMARCB1 0 0 1 0 3 0 4
TGFB3 0 0 1 1 2 0 4
TNNC1 0 0 3 0 1 0 4
ZAP70 0 0 2 1 1 0 4
AICDA 0 2 0 0 1 0 3
CAV3 0 0 0 1 2 0 3
CHEK1 0 0 1 0 2 0 3
CLN5, FBXL3 1 2 0 0 0 0 3
COX15 0 1 1 0 1 0 3
CSRP3 0 1 0 1 1 0 3
DLD 1 1 0 0 1 0 3
EYA4 0 0 2 0 1 0 3
FAM20A, PRKAR1A 0 0 2 0 1 0 3
FBN1, LOC113939944 1 1 0 1 0 0 3
HBB, LOC106099062, LOC107133510, LOC110006319 1 1 1 0 0 0 3
HOPX 0 0 0 2 1 0 3
IDS, LOC106050102 1 0 0 0 2 0 3
LAMP2 0 1 1 0 1 0 3
LEPR 0 1 0 2 0 0 3
LHCGR, STON1-GTF2A1L 0 1 1 1 0 0 3
LOC100507346, PTCH1 0 0 1 0 2 0 3
LOC107652445, SHOX 0 1 0 2 0 0 3
LOC107982234, WT1 0 0 0 0 3 0 3
LRP5 0 0 1 1 0 1 3
MTTP 1 2 0 0 0 0 3
NDUFS4 2 0 0 0 1 0 3
NRAS 0 0 0 0 3 0 3
PEX10 2 0 0 0 1 0 3
PON2 0 0 0 2 1 0 3
RAD50, TH2-LCR, TH2LCRR 0 0 2 0 1 0 3
SH2D1A 2 0 0 0 1 0 3
SLC12A6 2 0 0 0 1 0 3
TCAP 0 0 1 1 1 0 3
UNG 0 0 1 2 0 0 3
WT1 0 0 0 0 3 0 3
AGA 2 0 0 0 0 0 2
AMT 2 0 0 0 0 0 2
APOA2 0 0 0 0 2 0 2
APOA5, LOC108491825 0 0 0 1 1 0 2
ARX 0 0 2 0 0 0 2
ASXL1 1 1 0 0 0 0 2
ATP1B1 0 0 1 0 1 0 2
CACNB2 0 0 0 1 1 0 2
CFTR, LOC113633877 1 0 1 0 0 0 2
COL2A1 0 2 0 0 0 0 2
DNAJC19 0 0 1 0 1 0 2
DUOX2 0 1 1 0 0 0 2
EYA4, TARID 0 0 1 0 1 0 2
FGF23 1 1 0 0 0 0 2
GATAD1, PEX1 1 1 0 0 0 0 2
GBA 2 0 0 0 0 0 2
GCDH, SYCE2 2 0 0 0 0 0 2
GLB1, TMPPE 1 0 0 0 1 0 2
IFNGR2 0 0 0 1 1 0 2
KCNJ2 0 0 0 0 2 0 2
LOC110011216, PHOX2B 0 0 0 0 2 0 2
LOC114827851, MYH6 0 0 1 0 1 0 2
MANBA 2 0 0 0 0 0 2
MAX 0 0 0 0 2 0 2
MIR3936HG, SLC22A5 0 1 0 0 1 0 2
NDUFAF2 2 0 0 0 0 0 2
NDUFV1 0 2 0 0 0 0 2
NEU1 2 0 0 0 0 0 2
NPC2 1 0 1 0 0 0 2
NR0B1 0 2 0 0 0 0 2
PHEX, PTCHD1 0 2 0 0 0 0 2
RAD50, TH2LCRR 0 0 0 0 2 0 2
SBF1 0 1 1 0 0 0 2
SCN4B 0 0 1 0 1 0 2
SGCD 0 0 0 1 1 0 2
SHOX 1 0 0 0 0 1 2
TBCK 2 0 0 0 0 0 2
TGFB2 0 0 0 0 2 0 2
ACADVL, DLG4 0 0 0 0 1 0 1
ACSL4 0 0 1 0 0 0 1
ADA, LOC107303343 0 0 0 0 1 0 1
AKAP9 0 0 0 1 0 0 1
ALG11, ATP7B 0 0 1 0 0 0 1
APOC3 0 0 0 1 0 0 1
AQP2 0 1 0 0 0 0 1
ATP1B1, NME7 0 0 1 0 0 0 1
ATP8A2 0 0 1 0 0 0 1
BCOR 0 0 1 0 0 0 1
BIVM-ERCC5, ERCC5 1 0 0 0 0 0 1
C12orf43, HNF1A 0 0 0 0 0 1 1
CAV3, SSUH2 0 0 0 0 1 0 1
CCDC40, GAA 0 0 0 0 1 0 1
CD3D 0 0 1 0 0 0 1
CEL 0 1 0 0 0 0 1
CFTR, LOC111674463 0 0 1 0 0 0 1
CFTR, LOC113633875 0 0 0 0 1 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 0 1
CHPT1, GNPTAB 0 0 0 0 1 0 1
COL3A1, MIR3606 0 0 1 0 0 0 1
COL4A3 1 0 0 0 0 0 1
COQ9 1 0 0 0 0 0 1
CTF1 0 0 0 0 1 0 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 0 1 1
DHDDS 1 0 0 0 0 0 1
DLL3 1 0 0 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 0 1
DNASE1L1, TAZ 0 0 1 0 0 0 1
DSC2, DSCAS 0 0 0 1 0 0 1
EFEMP2, MUS81 0 0 0 0 1 0 1
ERCC8, NDUFAF2 1 0 0 0 0 0 1
ERMARD 0 0 1 0 0 0 1
EXT1 0 1 0 0 0 0 1
FBXO11, MSH6 0 0 1 0 0 0 1
FOXP1 0 1 0 0 0 0 1
FOXP2 0 0 0 1 0 0 1
FOXRED1 1 0 0 0 0 0 1
GAMT, NDUFS7 0 0 0 0 1 0 1
GH-LCR, GH1 1 0 0 0 0 0 1
GINS3 0 0 1 0 0 0 1
GNS 0 0 0 0 1 0 1
HFE, LOC108783645 0 1 0 0 0 0 1
HSD11B2 0 0 0 0 1 0 1
HSD3B2 0 0 1 0 0 0 1
IFNGR2, TMEM50B 0 0 1 0 0 0 1
IGHMBP2 1 0 0 0 0 0 1
INS, INS-IGF2, TH 0 0 0 0 1 0 1
ITPR1 0 0 1 0 0 0 1
KIF14 0 0 1 0 0 0 1
L1CAM 0 0 1 0 0 0 1
LAMA3 1 0 0 0 0 0 1
LAMC2 0 1 0 0 0 0 1
LOC105378311, PCDH15 0 0 0 0 1 0 1
LOC106736614, RET 0 0 1 0 0 0 1
LOX, SRFBP1 0 0 0 0 1 0 1
LRPPRC 0 1 0 0 0 0 1
MAPRE2 0 1 0 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 0 1
MID1 0 0 1 0 0 0 1
MKS1 0 0 1 0 0 0 1
MPZ, SDHC 0 0 0 0 1 0 1
MUTYH, TOE1 0 0 1 0 0 0 1
NSD1 0 0 1 0 0 0 1
PHKA2 1 0 0 0 0 0 1
POU1F1 0 0 0 0 1 0 1
RELN 0 0 1 0 0 0 1
RTN2 0 1 0 0 0 0 1
SDHC 0 0 0 0 1 0 1
SLC35A3 1 0 0 0 0 0 1
SMC3 0 0 1 0 0 0 1
SPTAN1 0 0 1 0 0 0 1
STAG1 0 1 0 0 0 0 1
STAR 0 1 0 0 0 0 1
TMEM127 0 0 0 0 1 0 1
TMEM43, XPC 0 0 0 0 1 0 1
TUBB4A 1 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 277
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 1 1 2651 506 1187 0 4346
not specified 65 32 1987 373 546 0 3003
Hereditary breast and ovarian cancer syndrome 478 167 24 9 96 0 774
Lynch syndrome 112 84 8 4 47 0 255
Cystic fibrosis 87 35 18 6 4 0 150
Cardiomyopathy 1 14 8 23 64 0 110
Maturity-onset diabetes of the young, type 2 5 79 10 9 0 0 103
Wilson disease 59 18 4 3 15 0 99
Marfan syndrome 6 44 22 8 15 0 95
beta Thalassemia 47 9 12 10 1 0 79
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 27 51 0 0 0 0 78
Phenylketonuria 61 7 0 0 0 0 68
Familial hypercholesterolemias 50 15 0 0 0 0 65
Osteogenesis imperfecta 5 32 13 12 2 0 64
Ataxia-telangiectasia syndrome 47 16 0 0 0 0 63
Von Hippel-Lindau syndrome 37 13 1 2 1 0 54
Fabry disease 33 18 0 0 0 0 51
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 22 15 1 1 7 0 46
Primary familial hypertrophic cardiomyopathy 15 7 12 4 6 0 44
Cardiac arrhythmia 4 6 5 8 20 0 43
Maturity-onset diabetes of the young, type 3 1 23 8 4 1 6 43
Deafness, autosomal recessive 1A 34 5 0 0 3 0 42
Severe combined immunodeficiency disease 4 17 5 6 9 0 41
Glycogen storage disease, type II 34 5 0 0 0 0 39
Cardiovascular phenotype 26 12 0 0 0 0 38
Rasopathy 29 8 0 0 0 0 37
Familial Mediterranean fever 13 1 10 1 10 0 35
Gaucher disease 26 7 0 0 0 0 33
Rett syndrome 15 4 5 2 7 0 33
Autosomal recessive polycystic kidney disease 16 16 0 0 0 0 32
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 19 12 0 0 0 0 31
Neonatal diabetes mellitus 0 13 6 4 2 3 28
Methylmalonic acidemia 25 2 0 0 0 0 27
Familial cancer of breast 9 17 0 0 0 0 26
Hemoglobinopathy 23 3 0 0 0 0 26
Tay-Sachs disease 21 5 0 0 0 0 26
X-linked agammaglobulinemia 7 16 2 0 0 0 25
Congenital adrenal hyperplasia 0 5 11 3 2 3 24
Familial hypocalciuric hypercalcemia 1 19 0 3 1 0 24
Noonan syndrome 3 16 8 0 0 0 0 24
Familial aortopathy 2 8 2 2 9 0 23
Maturity-onset diabetes of the young, type 1 0 9 4 7 1 2 23
MUTYH-associated polyposis 12 10 0 0 0 0 22
Nemaline myopathy 10 12 0 0 0 0 22
Carbohydrate-deficient glycoprotein syndrome type I 17 4 0 0 0 0 21
Familial hypercholesterolemia 3 5 5 1 7 0 21
Nephrogenic diabetes insipidus 3 15 0 1 0 2 21
Bardet-Biedl syndrome 11 7 0 1 1 0 20
Familial hypoplastic, glomerulocystic kidney 0 10 4 4 2 0 20
Multiple endocrine neoplasia, type 1 3 11 1 1 0 4 20
Familial adenomatous polyposis 10 9 0 0 0 0 19
Familial hyperinsulinism 14 4 1 0 0 0 19
Finnish congenital nephrotic syndrome 13 6 0 0 0 0 19
Amyloidogenic transthyretin amyloidosis 14 2 0 1 1 0 18
Bloom syndrome 10 7 0 0 0 0 17
Fanconi anemia, complementation group C 7 10 0 0 0 0 17
Homocystinuria 13 4 0 0 0 0 17
Methylmalonic acidemia with homocystinuria 15 2 0 0 0 0 17
Hereditary pancreatitis 5 3 4 1 3 0 16
Long QT syndrome 11 3 0 0 2 0 16
Metaphyseal chondrodysplasia, McKusick type 6 10 0 0 0 0 16
Polyglandular autoimmune syndrome, type 1 4 4 3 3 2 0 16
Glutaric aciduria, type 1 12 3 0 0 0 0 15
Mucopolysaccharidosis type I 14 1 0 0 0 0 15
Renal carnitine transport defect 13 2 0 0 0 0 15
Smith-Lemli-Opitz syndrome 12 3 0 0 0 0 15
Chronic granulomatous disease, X-linked 5 4 2 2 1 0 14
Metachromatic leukodystrophy 11 3 0 0 0 0 14
Propionyl-CoA carboxylase deficiency 14 0 0 0 0 0 14
Galactosylceramide beta-galactosidase deficiency 12 1 0 0 0 0 13
Leigh syndrome 10 3 0 0 0 0 13
Loeys-Dietz syndrome 3 5 1 0 4 0 13
Medium-chain acyl-coenzyme A dehydrogenase deficiency 9 4 0 0 0 0 13
Niemann-Pick disease, type C 11 2 0 0 0 0 13
Sanfilippo syndrome 12 0 0 0 0 0 12
Cohen syndrome 4 7 0 0 0 0 11
Hyperimmunoglobulin E syndrome 0 6 3 0 2 0 11
Hyperphenylalaninemia, non-pku 11 0 0 0 0 0 11
Non-ketotic hyperglycinemia 7 4 0 0 0 0 11
Wiskott-Aldrich syndrome 4 6 1 0 0 0 11
Arrhythmogenic right ventricular cardiomyopathy 2 1 2 1 4 0 10
Glycogen storage disease type 1A 10 0 0 0 0 0 10
Glycogen storage disease type III 9 1 0 0 0 0 10
Hereditary cancer-predisposing syndrome 4 6 0 0 0 0 10
Maple syrup urine disease type 1B 7 3 0 0 0 0 10
Maturity-onset diabetes of the young, type 4 0 3 2 3 1 1 10
Obesity 3 2 2 2 0 1 10
Osteochondrodysplasia 6 4 0 0 0 0 10
Xeroderma pigmentosum 9 1 0 0 0 0 10
Adrenoleukodystrophy 3 3 2 1 0 0 9
Beta thalassemia intermedia 7 1 1 0 0 0 9
Canavan Disease, Familial Form 7 2 0 0 0 0 9
Hereditary fructosuria 7 2 0 0 0 0 9
Hypophosphatasia 5 4 0 0 0 0 9
Li-Fraumeni syndrome 4 5 0 0 0 0 9
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 5 4 0 0 0 0 9
Microcephaly, normal intelligence and immunodeficiency 3 6 0 0 0 0 9
Neuronal ceroid lipofuscinosis 6 3 0 0 0 0 9
Primary hyperoxaluria 8 1 0 0 0 0 9
X-linked severe combined immunodeficiency 1 8 0 0 0 0 9
Congenital bilateral absence of the vas deferens 3 5 0 0 0 0 8
Cystinosis 6 2 0 0 0 0 8
Deficiency of alpha-mannosidase 7 1 0 0 0 0 8
Dyskeratosis congenita 3 5 0 0 0 0 8
Junctional epidermolysis bullosa gravis of Herlitz 6 2 0 0 0 0 8
Primary dilated cardiomyopathy 0 2 0 2 4 0 8
Sjögren-Larsson syndrome 8 0 0 0 0 0 8
Very long chain acyl-CoA dehydrogenase deficiency 4 4 0 0 0 0 8
Argininosuccinate lyase deficiency 7 0 0 0 0 0 7
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 3 4 0 0 0 0 7
Beta thalassemia major 6 1 0 0 0 0 7
Carnitine palmitoyltransferase II deficiency 5 2 0 0 0 0 7
Citrullinemia type I 5 2 0 0 0 0 7
Dihydropyrimidine dehydrogenase deficiency 2 5 0 0 0 0 7
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 7 0 0 0 0 7
Glucose-6-phosphate transport defect 4 3 0 0 0 0 7
Hereditary diffuse gastric cancer 3 4 0 0 0 0 7
Holocarboxylase synthetase deficiency 6 1 0 0 0 0 7
Hypohidrotic ectodermal dysplasia with immune deficiency 0 3 4 0 0 0 7
Idiopathic nephrotic syndrome 6 1 0 0 0 0 7
Long QT syndrome 1 3 4 0 0 0 0 7
Salla disease 5 2 0 0 0 0 7
Tyrosinemia type I 6 1 0 0 0 0 7
Deficiency of acetyl-CoA acetyltransferase 4 2 0 0 0 0 6
Interferon gamma receptor deficiency 0 1 1 3 1 0 6
Mucopolysaccharidosis, MPS-III-A 5 1 0 0 0 0 6
Niemann-Pick disease, type A 5 1 0 0 0 0 6
Rhizomelic chondrodysplasia punctata type 1 6 0 0 0 0 0 6
Severe myoclonic epilepsy in infancy 4 0 0 0 2 0 6
Usher syndrome, type 1F 5 1 0 0 0 0 6
Autosomal dominant epilepsy 2 3 0 0 0 0 5
Bardet-Biedl syndrome 10 3 2 0 0 0 0 5
Bifunctional peroxisomal enzyme deficiency 3 2 0 0 0 0 5
Congenital amegakaryocytic thrombocytopenia 4 1 0 0 0 0 5
Ehlers-Danlos syndrome, type 4 1 4 0 0 0 0 5
Ethylmalonic encephalopathy 4 1 0 0 0 0 5
Fukuyama congenital muscular dystrophy 2 3 0 0 0 0 5
Glycogen storage disease IIIa 5 0 0 0 0 0 5
I cell disease 4 1 0 0 0 0 5
Immunodeficiency with hyper IgM type 1 2 3 0 0 0 0 5
Morquio syndrome 4 1 0 0 0 0 5
Mucolipidosis 3 2 0 0 0 0 5
Mucolipidosis type IV 4 1 0 0 0 0 5
Mucopolysaccharidosis, MPS-II 4 1 0 0 0 0 5
Mucopolysaccharidosis, MPS-IV-B 5 0 0 0 0 0 5
Multiple endocrine neoplasia, type 2a 2 0 2 0 1 0 5
Pituitary hormone deficiency, combined 1 2 0 1 1 0 5
Sandhoff disease 5 0 0 0 0 0 5
Short stature, idiopathic, X-linked 1 1 0 2 0 1 5
Alport syndrome, autosomal recessive 3 1 0 0 0 0 4
Bardet-Biedl syndrome 2 3 1 0 0 0 0 4
Brugada syndrome (shorter-than-normal QT interval) 1 3 0 0 0 0 4
Cardio-facio-cutaneous syndrome 4 0 0 0 0 0 4
Deficiency of guanidinoacetate methyltransferase 4 0 0 0 0 0 4
Deficiency of hydroxymethylglutaryl-CoA lyase 4 0 0 0 0 0 4
Idiopathic growth hormone deficiency 0 0 0 0 4 0 4
Mucopolysaccharidosis type VI 4 0 0 0 0 0 4
Mucopolysaccharidosis, MPS-III-B 4 0 0 0 0 0 4
Noonan syndrome 1 0 1 0 2 0 4
Peutz-Jeghers syndrome 2 2 0 0 0 0 4
Pneumothorax, primary spontaneous 3 1 0 0 0 0 4
Spinal muscular atrophy 1 3 0 0 0 0 4
Usher syndrome, type 3A 4 0 0 0 0 0 4
Abetalipoproteinaemia 1 2 0 0 0 0 3
Ataxia with vitamin E deficiency 2 1 0 0 0 0 3
Carnitine acylcarnitine translocase deficiency 3 0 0 0 0 0 3
Ceroid lipofuscinosis neuronal 5 1 2 0 0 0 0 3
Common variable immunodeficiency 2 0 0 1 1 1 0 3
Fucosidosis 3 0 0 0 0 0 3
Generalized epilepsy with febrile seizures plus 1 0 0 0 2 0 3
Gluthathione synthetase deficiency 3 0 0 0 0 0 3
Gonadotropin-independent familial sexual precocity 0 1 1 1 0 0 3
Histiocytic medullary reticulosis 1 2 0 0 0 0 3
Hyper-IgE syndrome 2 1 0 0 0 0 3
Immunodeficiency with hyper IgM type 5 0 0 1 2 0 0 3
Juvenile neuronal ceroid lipofuscinosis 3 0 0 0 0 0 3
Juvenile polyposis syndrome 1 2 0 0 0 0 3
Maple syrup urine disease type 1A 1 2 0 0 0 0 3
Ornithine carbamoyltransferase deficiency 1 2 0 0 0 0 3
Primary hyperoxaluria, type II 3 0 0 0 0 0 3
Severe combined immunodeficiency due to ADA deficiency 3 0 0 0 0 0 3
Spastic ataxia Charlevoix-Saguenay type 2 1 0 0 0 0 3
Thrombocytopenia, X-linked 2 0 0 1 0 0 3
Achondrogenesis, type II 0 2 0 0 0 0 2
Adult junctional epidermolysis bullosa 2 0 0 0 0 0 2
Andermann syndrome 2 0 0 0 0 0 2
Aspartylglucosaminuria 2 0 0 0 0 0 2
Atrial septal defect 7 with or without atrioventricular conduction defects 0 0 0 2 0 0 2
Autosomal dominant hypophosphatemic rickets 1 1 0 0 0 0 2
Beta-D-mannosidosis 2 0 0 0 0 0 2
C-like syndrome 1 1 0 0 0 0 2
CHARGE association 2 0 0 0 0 0 2
Ceroid lipofuscinosis neuronal 1 2 0 0 0 0 0 2
Ceroid lipofuscinosis neuronal 2 1 1 0 0 0 0 2
Congenital adrenal hypoplasia, X-linked 0 2 0 0 0 0 2
Congenital heart disease 0 0 0 1 1 0 2
Congenital heart disease (variable) 0 2 0 0 0 0 2
Congenital hyperammonemia, type I 0 2 0 0 0 0 2
Costello syndrome 1 1 0 0 0 0 2
Early-onset coronary artery disease 1 1 0 0 0 0 2
Familial dysautonomia 1 1 0 0 0 0 2
Fanconi anemia, complementation group J 2 0 0 0 0 0 2
GM1 gangliosidosis 2 0 0 0 0 0 2
GRACILE syndrome 2 0 0 0 0 0 2
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 1 0 0 0 1 2
Hereditary cutaneous melanoma 2 0 0 0 0 0 2
Hypoparathyroidism familial isolated 0 1 1 0 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2 0 0 0 0 0 2
Immunodeficiency with hyper IgM type 2 0 2 0 0 0 0 2
Joubert syndrome 2 2 0 0 0 0 0 2
Maple syrup urine disease, type 3 1 1 0 0 0 0 2
Mucopolysaccharidosis type VII 2 0 0 0 0 0 2
Multiple sulfatase deficiency 2 0 0 0 0 0 2
Postmenopausal osteoporosis 0 0 1 1 0 0 2
Sialidosis 2 0 0 0 0 0 2
Tuberous sclerosis syndrome 1 1 0 0 0 0 2
Turcot syndrome 1 1 0 0 0