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
2265 1282 3876 1949 2152 25 11537

Gene and significance breakdown #

Total genes and gene combinations: 474
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA2 273 88 593 315 99 0 1364
BRCA1 190 48 323 175 64 0 799
CFTR 101 48 171 44 12 0 376
FBN1 33 96 147 44 30 0 350
MSH6 38 26 139 69 38 0 310
APC 10 9 145 71 38 0 273
ATM 27 11 151 51 15 0 255
PMS2 16 13 114 62 18 0 223
MSH2 29 19 106 36 23 0 213
MLH1 31 27 76 38 17 0 189
ATP7B 58 19 44 23 22 0 165
PALB2 11 17 80 38 17 0 163
ATM, C11orf65 20 5 70 35 7 0 137
LDLR 51 20 40 17 5 0 133
HBB, LOC106099062, LOC107133510 61 10 36 24 0 0 131
BRIP1 6 11 68 32 13 0 130
CDH1 3 4 56 33 23 0 119
GCK 5 79 15 9 1 0 109
CHEK2 7 8 69 14 7 0 105
BARD1 3 3 54 25 9 0 94
RYR2 1 3 26 17 47 0 94
PKHD1 16 16 23 12 22 0 89
MEFV 12 1 42 25 10 0 87
MUTYH 12 10 47 12 4 0 85
NBN 3 8 44 23 7 0 85
PAH 72 7 1 1 4 0 85
GALT 22 15 27 9 8 0 81
DSP 1 5 27 20 26 0 79
GJB2 35 5 15 8 9 0 72
HBB, LOC107133510, LOC110006319 16 2 42 10 1 0 71
STK11 2 2 25 18 23 0 70
PTPN11 36 6 11 7 7 0 67
GLA, RPL36A-HNRNPH2 34 17 9 4 2 0 66
SCN5A 3 6 21 19 17 0 66
SOS1 6 1 33 13 10 0 63
GAA 34 5 10 6 7 0 62
NF1 1 0 15 6 40 0 62
MECP2 15 4 18 8 15 0 60
TP53 4 5 23 21 7 0 60
ANK2 0 1 15 13 30 0 59
RAD51C 5 4 38 5 6 0 58
MYBPC3 20 3 12 13 6 0 54
POLE 0 0 3 6 45 0 54
ALMS1 0 1 24 8 20 0 53
RAD51D, RAD51L3-RFFL 3 1 32 10 4 0 50
CFTR, LOC111674472 14 8 18 5 4 0 49
NEB 6 5 3 0 34 0 48
COL3A1 1 9 12 8 17 0 47
PCSK9 2 2 15 6 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 9 18 14 0 41
PKP2 8 6 9 13 5 0 41
ABRAXAS1 0 1 20 12 7 0 40
BLM 10 7 8 5 9 0 39
COL1A1 4 22 6 5 2 0 39
GBA, LOC106627981 24 7 2 2 4 0 39
BMPR1A 1 1 20 10 6 0 38
LOC107303340, VHL 23 5 8 1 1 0 38
SMAD4 0 1 10 19 8 0 38
SMPD1 16 5 5 1 10 0 37
TTR 15 3 7 4 8 0 37
HEXA 21 5 5 3 2 0 36
PTEN 1 0 24 4 6 0 35
CACNA1C 0 2 3 10 19 0 34
KCNH2 7 5 8 5 9 0 34
BRAF 2 1 9 5 15 0 32
MYH11 0 0 8 4 20 0 32
VHL 16 8 5 1 2 0 32
CDKN2A 2 0 17 9 3 0 31
MYH6 0 0 10 10 11 0 31
MYH7 7 3 15 5 1 0 31
TSC2 1 0 1 2 27 0 31
CASR 1 20 4 4 1 0 30
COL1A2 1 10 9 8 2 0 30
BTK 7 15 6 0 1 0 29
RAF1 3 4 6 9 7 0 29
TGFBR2 1 5 8 3 12 0 29
NPHS1 13 6 2 1 6 0 28
PMM2 17 4 3 0 3 0 27
RAD50 0 1 4 9 13 0 27
KCNQ1 12 1 3 6 4 0 26
SMN1 1 3 21 1 0 0 26
DSG2 0 0 11 7 8 0 25
HNF4A 0 9 6 7 1 2 25
ALK 0 0 1 2 21 0 24
DSC2 0 1 7 8 8 0 24
MRE11 0 0 5 3 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
JUP 0 0 9 5 8 0 22
PRSS1, TRB 3 2 8 4 5 0 22
CBS 13 4 2 0 2 0 21
CFTR, LOC111674475 13 1 6 0 1 0 21
DHCR7 12 3 2 3 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 1 15 0 20
CYBB 5 4 6 3 2 0 20
LMNA 1 5 1 3 10 0 20
SLC22A5 13 1 0 0 6 0 20
ABCC9 0 2 4 3 10 0 19
ACADM 9 4 3 1 2 0 19
AGL 15 1 0 0 3 0 19
CFTR, LOC111674477 3 4 9 3 0 0 19
IDUA 11 1 2 0 5 0 19
PRKAR1A 0 0 7 6 6 0 19
SURF1 7 2 3 3 4 0 19
ADAMTS2 1 0 0 2 15 0 18
FBN2 0 0 0 0 18 0 18
GNPTAB 8 3 0 2 5 0 18
HRAS, LRRC56 4 3 3 3 5 0 18
MYH11, NDE1 0 1 5 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 7 4 1 2 3 0 17
COL5A1 0 0 0 0 17 0 17
FANCC 6 6 0 2 3 0 17
JAK3 0 4 2 3 8 0 17
SGSH 10 1 1 1 4 0 17
SPINK1 3 1 9 2 2 0 17
TGFBR1 2 0 8 4 3 0 17
TNNT2 2 1 7 2 5 0 17
CHD7 2 0 2 3 9 0 16
PEX6 3 4 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 6 2 5 0 15
LDB3 0 0 0 4 11 0 15
LOC102724058, SCN1A 1 2 5 2 5 0 15
NPC1 10 2 2 0 1 0 15
PRKAG2 0 2 4 4 5 0 15
RTEL1, RTEL1-TNFRSF6B 3 5 1 0 6 0 15
TMEM43 1 0 4 3 7 0 15
TSC1 0 1 1 1 12 0 15
AOPEP, FANCC 1 4 1 2 6 0 14
GCDH 10 3 0 0 1 0 14
GLDC 5 4 2 1 2 0 14
HGSNAT 5 0 5 1 3 0 14
LIG3 0 0 3 5 6 0 14
PCDH15 4 1 0 2 7 0 14
VCL 0 0 3 2 9 0 14
VPS13B 4 7 0 0 3 0 14
ALPL 5 4 1 1 2 0 13
CDK4, TSPAN31 0 0 7 4 2 0 13
DTNA 0 0 1 3 9 0 13
GALNS 4 1 1 1 6 0 13
LPL 0 0 2 4 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 4 5 2 0 12
COL5A2 0 0 0 0 12 0 12
CYP11B1, LOC106799833 0 3 7 1 1 0 12
FKTN 3 2 2 3 2 0 12
G6PC 10 0 0 0 2 0 12
MAN2B1 7 1 0 0 4 0 12
MAP2K1 2 0 8 0 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 0 1 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 0 3 0 0 10
BCKDHB 7 3 0 0 0 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 2 1 4 0 9
FAH 6 1 0 0 2 0 9
HADHA 2 3 1 0 3 0 9
HEXB 4 0 1 2 2 0 9
IL7R 1 5 3 0 0 0 9
NKX2-5 1 0 2 3 3 0 9
NOS1AP 0 0 3 2 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 3 1 2 0 8
ARSB 5 1 1 0 1 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, MFF-DT 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 1 1 6 0 8
TNNI3 0 1 3 1 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 0 1 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 3 2 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 1 1 0 4 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 1 1 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 2 0 3 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 2 1 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 1 1 2 0 4
EFEMP2 0 0 0 0 4 0 4
EMD 0 1 0 2 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 1 1 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 0 3 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 0 1 1 0 3
CSRP3 0 1 0 1 1 0 3
DLD 1 1 0 0 1 0 3
EYA4 0 0 1 1 1 0 3
FAM20A, PRKAR1A 0 0 1 1 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 0 1 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 0 1 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
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
ACYP1, NPC2 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 0 1 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
DHCR7, NADSYN1 0 0 0 0 1 0 1
DHDDS 1 0 0 0 0 0 1
DLL3, PLEKHG2 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
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
NPC2 1 0 0 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 specified 64 31 1811 1370 598 0 3874
not provided 1 1 1866 427 1185 0 3480
Hereditary breast and ovarian cancer syndrome 485 164 20 6 96 0 771
Lynch syndrome 113 84 8 4 47 0 256
Cystic fibrosis 87 36 17 6 4 0 150
Cardiomyopathy 2 14 8 22 64 0 110
Maturity-onset diabetes of the young, type 2 5 79 10 9 0 0 103
Wilson disease 58 19 4 3 15 0 99
Marfan syndrome 6 44 22 8 15 0 95
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 27 54 0 0 0 0 81
beta Thalassemia 47 9 11 10 1 0 78
Phenylketonuria 61 7 0 0 0 0 68
Familial hypercholesterolemia 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 34 17 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
Maturity-onset diabetes of the young, type 3 1 23 8 4 1 6 43
Cardiac arrhythmia 4 6 4 8 20 0 42
Deafness, autosomal recessive 1A 34 5 0 0 3 0 42
Severe combined immunodeficiency disease 4 16 5 6 9 0 40
Glycogen storage disease, type II 34 5 0 0 0 0 39
Rasopathy 31 7 0 0 0 0 38
Cardiovascular phenotype 26 11 0 0 0 0 37
Familial Mediterranean fever 12 1 9 1 10 0 33
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 20 11 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
Familial hypocalciuric hypercalcemia 1 19 0 3 1 0 24
Noonan syndrome 3 16 8 0 0 0 0 24
X-linked agammaglobulinemia 7 15 2 0 0 0 24
Congenital adrenal hyperplasia 0 5 10 3 2 3 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
Congenital disorder of glycosylation, type Ia 17 4 0 0 0 0 21
Familial aortopathy 2 6 2 2 9 0 21
Familial hypercholesterolemia 1 3 5 5 1 7 0 21
Nephrogenic diabetes insipidus 3 15 0 1 0 2 21
Bardet-Biedl syndrome 12 6 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
Amyloidogenic transthyretin amyloidosis 14 3 0 1 1 0 19
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
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
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 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
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
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
Li-Fraumeni syndrome 5 3 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
Congenital bilateral aplasia of vas deferens from CFTR mutation 2 5 0 0 0 0 7
Dihydropyrimidine dehydrogenase deficiency 2 5 0 0 0 0 7
Ectodermal dysplasia and immunodeficiency 1 0 3 4 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
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
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 3 2 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
Short stature, idiopathic, X-linked 1 1 0 2 0 1 5
Usher syndrome, type 1F 4 1 0 0 0 0 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
Sandhoff disease 4 0 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 2 1 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 dilated cardiomyopathy 1 1 0 0 0 0 2
Familial dysautonomia 1 1 0 0 0 0 2
Familial isolated hypoparathyroidism 0 1 1 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
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