ClinVar Miner

Variants from Blueprint Genetics

Location: Finland  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1219 1568 2574 105 9 5471

Gene and significance breakdown #

Total genes and gene combinations: 705
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCA4 139 83 135 0 0 357
USH2A 114 93 137 0 0 344
RPGR 69 72 24 0 0 161
MYBPC3 46 51 46 7 0 150
FBN1 18 60 22 2 0 102
TTN 6 54 33 7 0 100
EYS 19 35 40 0 0 94
PKD1 19 37 35 0 0 91
MYH7 20 30 33 3 0 86
CRB1 23 21 25 0 0 69
DSP 0 12 50 4 0 66
PRPH2 16 27 15 0 0 58
RYR2 1 12 37 0 0 50
SCN5A 4 7 31 6 0 48
PRPF31 7 24 16 0 0 47
RHO 18 15 14 0 0 47
MYO7A 15 13 17 0 0 45
RP1 8 16 21 0 0 45
PKHD1 9 18 16 0 0 43
BEST1 16 16 10 0 0 42
IMPG2 6 19 17 0 0 42
COL2A1 10 24 7 0 0 41
ADGRV1 4 13 23 0 0 40
PDE6B 9 16 15 0 0 40
PROM1 9 13 14 0 0 36
CEP290 13 9 12 0 0 34
CNGA3 22 7 4 0 0 33
KCNH2 10 9 11 2 0 32
MERTK 4 11 15 0 0 30
RP1L1 3 6 21 0 0 30
PTPN11 26 2 1 0 0 29
SNRNP200 2 3 24 0 0 29
PDE6A 5 7 16 0 0 28
CNGB1 10 7 10 0 0 27
NR2E3 11 5 11 0 0 27
GUCY2D 6 7 13 0 0 26
NOTCH1 0 1 22 3 0 26
ALMS1 11 10 4 0 0 25
CHM 8 14 3 0 0 25
PKP2 6 4 11 3 1 25
RBM20 2 1 20 1 1 25
ABCA4, LOC126805793 8 6 10 0 0 24
LMNA 5 11 8 0 0 24
TNNT2 5 6 11 2 0 24
CDKL5, RS1 14 7 2 0 0 23
COL5A2 0 1 19 2 0 22
PRPF8 6 2 13 0 0 21
CDH23 3 10 7 0 0 20
DSG2 1 2 17 0 0 20
MYH6 0 0 17 2 1 20
RPE65 10 6 4 0 0 20
TPM1 2 4 13 1 0 20
AKAP9 0 1 16 2 0 19
CACNA1F 4 7 8 0 0 19
COL3A1 1 8 9 1 0 19
CRX 6 9 4 0 0 19
RAF1 4 7 8 0 0 19
SOS1 9 2 7 1 0 19
TULP1 3 7 9 0 0 19
ACTN2 0 0 18 0 0 18
CERKL 7 7 4 0 0 18
CNGA1, LOC101927157 4 7 7 0 0 18
KCNV2 3 7 8 0 0 18
PCARE 6 7 5 0 0 18
PKD2 5 9 4 0 0 18
AHI1 2 5 10 0 0 17
DSC2 0 2 9 5 1 17
EYS, PHF3 7 5 5 0 0 17
FLNC 0 5 12 0 0 17
RP2 6 7 4 0 0 17
TNNI3 5 4 8 0 0 17
JPH2 0 1 15 0 0 16
LRBA 0 1 15 0 0 16
MYH11 0 1 13 0 2 16
COL1A1 7 5 3 0 0 15
COL5A1 0 0 14 1 0 15
DYNC2H1 3 3 9 0 0 15
GPHN, RDH12 6 5 4 0 0 15
IFT140 2 5 8 0 0 15
IMPDH1 0 2 13 0 0 15
ACTA2 3 4 7 0 0 14
ANK2 0 1 12 1 0 14
BAG3 1 3 10 0 0 14
BBS12 2 8 4 0 0 14
CDHR1 3 5 6 0 0 14
CTNNA3 0 0 14 0 0 14
FBN2 0 2 12 0 0 14
FGFR3 8 2 4 0 0 14
IFT140, LOC105371046 1 6 7 0 0 14
JUP 0 1 12 1 0 14
TGFBR1 1 3 10 0 0 14
CNGB3 9 1 3 0 0 13
COL1A2 2 6 5 0 0 13
DMD 0 0 13 0 0 13
GPHN, RDH12, ZFYVE26 5 4 4 0 0 13
LOC126861898, MYH7 3 6 4 0 0 13
RPGRIP1 2 8 3 0 0 13
SMAD3 1 4 8 0 0 13
TGFBR2 1 5 7 0 0 13
CACNA1C 1 2 8 1 0 12
COMP 5 4 3 0 0 12
LAMA4 0 0 12 0 0 12
MYPN 0 0 9 3 0 12
RIMS1 0 0 12 0 0 12
C1QTNF5, MFRP 2 2 7 0 0 11
CARD11 1 0 10 0 0 11
CSRP3 0 0 10 0 1 11
DES 1 3 7 0 0 11
FLNA 0 1 10 0 0 11
FLNB 1 2 8 0 0 11
IMPG1 0 3 8 0 0 11
PRKAG2 1 0 10 0 0 11
HGSNAT 3 3 4 0 0 10
INPP5E 1 2 7 0 0 10
MYL3 0 2 8 0 0 10
NEXN 0 1 8 1 0 10
NF1 4 4 2 0 0 10
NPHS1 1 2 6 1 0 10
PRPF3 1 2 7 0 0 10
RAX2 0 3 7 0 0 10
TGFB2 0 7 3 0 0 10
ACAN 0 4 5 0 0 9
ACTC1, GJD2-DT 1 0 7 1 0 9
BBS2 5 3 1 0 0 9
CLN3 2 2 5 0 0 9
CLRN1 4 3 2 0 0 9
COL10A1, NT5DC1 1 4 4 0 0 9
GLA, RPL36A-HNRNPH2 3 3 3 0 0 9
GUCA1A, GUCA1ANB-GUCA1A 2 1 6 0 0 9
KRAS 4 4 1 0 0 9
LAMP2 1 3 5 0 0 9
LOC122152296, USH2A 4 2 3 0 0 9
LRP5 2 3 4 0 0 9
MYOM1 0 0 8 1 0 9
NFKB1 0 5 4 0 0 9
PDE6C 0 6 3 0 0 9
RAG1 3 2 4 0 0 9
TOPORS 3 1 5 0 0 9
TRPM4 0 0 8 1 0 9
TTLL5 1 5 3 0 0 9
TXNRD2 0 0 9 0 0 9
WDR19 2 2 5 0 0 9
AGBL5 0 1 7 0 0 8
BBS1, ZDHHC24 4 4 0 0 0 8
BRAF 5 3 0 0 0 8
CTNNA1 0 1 7 0 0 8
FLVCR1 1 1 6 0 0 8
LDB3 0 0 4 4 0 8
STAT3 2 3 3 0 0 8
AIPL1 1 1 5 0 0 7
ALPL 4 2 1 0 0 7
CACNB2 0 0 7 0 0 7
CEP78 0 6 1 0 0 7
CFAP410 2 4 1 0 0 7
CLASP1, RNU4ATAC 4 3 0 0 0 7
CYP4V2 3 1 3 0 0 7
HCN4 0 0 7 0 0 7
HRAS, LRRC56 3 1 2 1 0 7
KLHL7 1 2 4 0 0 7
LCA5 2 4 1 0 0 7
LDLR 4 3 0 0 0 7
LZTR1 0 2 5 0 0 7
MHRT, MYH7 0 3 3 1 0 7
MYH11, NDE1 0 1 4 1 1 7
MYLK 0 0 6 1 0 7
NMNAT1 5 2 0 0 0 7
NPHP4 0 2 5 0 0 7
NYX 1 2 4 0 0 7
OBSL1 0 2 5 0 0 7
PIK3CD 1 0 6 0 0 7
TMEM43 1 0 5 1 0 7
TRPM1 2 2 3 0 0 7
TRPV4 2 3 2 0 0 7
VCL 0 0 7 0 0 7
ALPK3 0 2 4 0 0 6
ANKRD11 2 2 2 0 0 6
BBS10 5 1 0 0 0 6
DOCK2 0 0 6 0 0 6
DTNA 0 0 6 0 0 6
EFEMP1 1 0 5 0 0 6
ELN 0 2 4 0 0 6
FAM161A 5 0 1 0 0 6
FHL1 0 2 4 0 0 6
GATA5 0 0 5 1 0 6
GPR179 1 1 4 0 0 6
GRM6, ZNF454 1 1 4 0 0 6
ILK, TAF10 0 0 5 1 0 6
MAK 0 5 1 0 0 6
MYL2 1 1 4 0 0 6
NEBL 0 0 6 0 0 6
NPR2 0 3 3 0 0 6
OPA1 2 2 2 0 0 6
PLCG2 0 0 6 0 0 6
PRKDC 0 0 6 0 0 6
SAG 2 1 3 0 0 6
SKI 0 1 4 1 0 6
TGFB3 0 2 4 0 0 6
TNFRSF13B 0 0 6 0 0 6
TTC21B 1 2 3 0 0 6
ABCC9 0 0 4 1 0 5
ABHD12 0 3 2 0 0 5
AIRE 2 1 2 0 0 5
ANKRD1 0 0 5 0 0 5
C2orf49, FHL2 0 0 5 0 0 5
CFH 0 0 5 0 0 5
COL11A2 0 2 3 0 0 5
CUL7 4 1 0 0 0 5
HFE 3 0 2 0 0 5
HSPG2 0 2 3 0 0 5
KCNJ2 2 1 2 0 0 5
LOC126860392, RP1 1 2 2 0 0 5
MIB1 0 0 4 1 0 5
PITPNM3 0 0 5 0 0 5
RBP3 0 1 4 0 0 5
RS1 0 4 1 0 0 5
SNTA1 0 0 4 1 0 5
STAT2 0 0 5 0 0 5
SYNE2 0 0 3 2 0 5
TRIM63 0 0 3 2 0 5
TRPS1 0 3 2 0 0 5
VCAN 1 1 3 0 0 5
ABCA4, LOC126805794 1 2 1 0 0 4
ABCC9, KCNJ8 0 0 4 0 0 4
ADA2 0 2 2 0 0 4
ANK2, LOC126807137 0 0 3 1 0 4
APOB 0 1 2 1 0 4
ARHGEF18 0 0 4 0 0 4
ATM 1 2 1 0 0 4
ATM, C11orf65 2 0 2 0 0 4
BBS1 3 1 0 0 0 4
BBS4 0 2 2 0 0 4
BTK 0 3 1 0 0 4
C10orf105, CDH23 0 2 2 0 0 4
C3 0 0 4 0 0 4
CACNA2D4 0 0 4 0 0 4
CBL 1 1 2 0 0 4
CHM, LOC129391306 1 2 1 0 0 4
COL11A1 0 2 2 0 0 4
COL5A1, LOC101448202 0 0 3 1 0 4
CR2 0 0 4 0 0 4
CTLA4 1 0 3 0 0 4
DPP6 0 0 4 0 0 4
ELANE 1 1 2 0 0 4
HK1 1 0 3 0 0 4
IQCB1 4 0 0 0 0 4
JAK3 1 0 3 0 0 4
KIF11 0 3 1 0 0 4
KIZ 1 2 1 0 0 4
LOC126861897, MHRT, MYH7 0 1 3 0 0 4
LYST 0 0 4 0 0 4
MASP1 0 1 3 0 0 4
MKKS 2 1 1 0 0 4
MVK 1 2 1 0 0 4
NFKB2 0 1 3 0 0 4
NPHP3, NPHP3-ACAD11 0 4 0 0 0 4
PCDH15 2 1 1 0 0 4
PEX1 3 1 0 0 0 4
PHYH 1 2 1 0 0 4
PRPF4 0 0 4 0 0 4
PRPF6 0 1 3 0 0 4
RFX5 1 1 2 0 0 4
RIT1 4 0 0 0 0 4
RLBP1 2 2 0 0 0 4
RPGRIP1L 0 0 4 0 0 4
SEMA4A 0 1 3 0 0 4
SLC24A1 1 3 0 0 0 4
SLC26A2 2 0 2 0 0 4
SOX9 1 2 1 0 0 4
SYN3, TIMP3 1 0 3 0 0 4
TTC8 1 0 3 0 0 4
WT1 2 1 1 0 0 4
ZAP70 1 1 2 0 0 4
ADA 2 1 0 0 0 3
ADAMTSL2 0 1 2 0 0 3
ANK2, LOC126807136 0 0 3 0 0 3
BACH2 0 0 3 0 0 3
BBS7 2 1 0 0 0 3
BBS9 1 0 2 0 0 3
BGN 0 1 2 0 0 3
BLOC1S1-RDH5, RDH5 0 0 3 0 0 3
BMP2 0 1 2 0 0 3
C7 2 0 1 0 0 3
CABP4 1 2 0 0 0 3
CACNA2D1 0 0 2 1 0 3
CALR3 0 0 2 1 0 3
CD19 0 1 2 0 0 3
CD40LG 0 2 1 0 0 3
CEP290, RLIG1 1 0 2 0 0 3
CHST3 0 3 0 0 0 3
CRYAB 0 0 3 0 0 3
DMPK 0 0 2 1 0 3
FAS 0 2 1 0 0 3
GAA 1 0 2 0 0 3
GATA2 0 3 0 0 0 3
GLI3 1 1 1 0 0 3
GNAS 0 0 3 0 0 3
GPD1L 0 0 2 1 0 3
IFIH1 1 0 2 0 0 3
IFT140, LOC126862260 0 1 2 0 0 3
IKZF1 0 1 2 0 0 3
IL2RG 0 1 2 0 0 3
IL7R 0 0 3 0 0 3
ITGB2 1 1 1 0 0 3
LMNA, LOC126805877 0 2 1 0 0 3
LOC106029312, NCF1 2 1 0 0 0 3
LOC114827851, MYH6 0 0 2 1 0 3
LOC126806068, RYR2 0 0 3 0 0 3
LOC126806426, TTN 0 3 0 0 0 3
LOC130055387, NRL 0 2 1 0 0 3
LOC130068098, RPGR 1 2 0 0 0 3
LOC130068202, RP2 0 1 2 0 0 3
MECP2 1 2 0 0 0 3
MFSD8 1 1 1 0 0 3
NIPBL 0 2 1 0 0 3
NLRP1 0 0 3 0 0 3
NLRP12 0 0 3 0 0 3
NRL 0 0 3 0 0 3
OAT 0 3 0 0 0 3
PAX2 1 1 1 0 0 3
PDLIM3 0 0 3 0 0 3
PNP 0 3 0 0 0 3
POLE 0 1 2 0 0 3
PRKG1 0 0 2 1 0 3
PTPRC 0 1 2 0 0 3
RAB28 0 1 2 0 0 3
RFXANK 0 2 1 0 0 3
ROM1 0 1 2 0 0 3
SHOX 1 1 1 0 0 3
TCAP 0 0 2 1 0 3
USH1C 1 2 0 0 0 3
ADA, LOC107303343 1 0 1 0 0 2
ARSL 0 0 2 0 0 2
B9D1 0 1 1 0 0 2
BLOC1S1-RDH5, CD63, RDH5 1 0 1 0 0 2
BMPR2 1 1 0 0 0 2
C2 1 1 0 0 0 2
C6 1 0 1 0 0 2
CACNA1F, LOC126863257 0 1 1 0 0 2
CALM1 0 2 0 0 0 2
CAPN5 0 0 2 0 0 2
CARD9 0 1 1 0 0 2
CASP8 0 0 2 0 0 2
CD27 0 1 1 0 0 2
CD81 0 0 2 0 0 2
CEP164 0 1 1 0 0 2
CEP85L, PLN 1 1 0 0 0 2
CERKL, ITGA4 0 1 1 0 0 2
CFD 0 1 1 0 0 2
CFTR 2 0 0 0 0 2
CHD2 0 2 0 0 0 2
CIITA 0 1 1 0 0 2
CNNM4 1 1 0 0 0 2
COL18A1 0 2 0 0 0 2
COPA 0 0 2 0 0 2
CREBBP 0 1 1 0 0 2
CTF1, LOC130058878 0 0 1 1 0 2
CYBB 0 1 1 0 0 2
CYGB, PRCD 2 0 0 0 0 2
DDR2 0 0 2 0 0 2
DNAAF5 0 0 2 0 0 2
DNAH11 0 0 2 0 0 2
DOCK6 0 0 2 0 0 2
DPH2, LOC126805726 0 0 2 0 0 2
DRAM2 0 1 1 0 0 2
DTHD1 0 0 2 0 0 2
DVL1 0 0 2 0 0 2
DYSF 0 0 2 0 0 2
ELOVL4 1 0 1 0 0 2
EMD 0 0 2 0 0 2
ENG 0 1 1 0 0 2
EVC2 0 1 1 0 0 2
FBLN5 0 0 2 0 0 2
FBN1, LOC126862124 0 0 2 0 0 2
FBN2, LOC126807501 0 0 2 0 0 2
FOXP3 0 1 1 0 0 2
FPGT-TNNI3K, TNNI3K 0 0 2 0 0 2
FZD4, PRSS23 1 0 1 0 0 2
G6PD 0 0 2 0 0 2
GANAB 0 0 2 0 0 2
GIGYF2, KCNJ13 0 0 2 0 0 2
GNAT1 0 1 1 0 0 2
HARS1 0 0 2 0 0 2
HRC, TRPM4 0 0 2 0 0 2
IFT172 0 0 2 0 0 2
IFT172, LOC126806173 0 1 1 0 0 2
IGFALS 0 0 2 0 0 2
IHH 0 1 1 0 0 2
IL12RB1 2 0 0 0 0 2
IRF2BP2 0 0 2 0 0 2
IRF2BP2, LOC129932810 0 0 2 0 0 2
KCNA2 1 1 0 0 0 2
KCND3 0 0 1 1 0 2
KCNE1 0 0 0 2 0 2
KCNJ8 0 0 2 0 0 2
KIAA0586 1 0 1 0 0 2
KIF22 1 1 0 0 0 2
LAMB2 1 0 1 0 0 2
LIG4 1 0 1 0 0 2
LOC108021846, SOX9 0 1 1 0 0 2
LOC110121269, SCN5A 0 1 1 0 0 2
LOC126806422, TTN 0 2 0 0 0 2
LOC126806423, TTN 1 1 0 0 0 2
LOC126806427, TTN 0 1 0 1 0 2
LOC126806433, TTN 0 1 1 0 0 2
LOC126859690, PKHD1 0 0 2 0 0 2
LOC126861896, MYH6 0 0 2 0 0 2
LOC126861897, MYH7 0 1 1 0 0 2
LOC129992813, PKD2 0 1 1 0 0 2
LPIN2 0 0 2 0 0 2
LTBP3 0 0 2 0 0 2
MALT1 0 1 1 0 0 2
MAP2K2 2 0 0 0 0 2
MYLK2 0 0 2 0 0 2
NCF2 0 1 1 0 0 2
NEK1 0 0 2 0 0 2
NFKBIA 0 0 2 0 0 2
NLRC4 0 1 1 0 0 2
NLRP3 0 1 1 0 0 2
NOTCH2 1 0 1 0 0 2
NPHS2 1 0 1 0 0 2
OFD1 0 0 2 0 0 2
OTX2 0 0 2 0 0 2
PDE4D 0 1 1 0 0 2
PEX6 0 0 2 0 0 2
POC1A 1 0 1 0 0 2
POC1B, POC1B-DUSP6 0 1 1 0 0 2
PRDM16 0 0 2 0 0 2
PRKAR1A 1 0 1 0 0 2
PRPS1 0 2 0 0 0 2
PUF60 0 1 1 0 0 2
RAG2 0 2 0 0 0 2
RECQL4 0 0 2 0 0 2
REEP6 0 0 2 0 0 2
RFXAP 0 0 2 0 0 2
RNASEH2C 0 0 2 0 0 2
RTEL1, RTEL1-TNFRSF6B 0 0 2 0 0 2
SAMHD1 0 0 2 0 0 2
SBDS 1 1 0 0 0 2
SCN1A 1 1 0 0 0 2
SCN1B 0 0 1 1 0 2
SCN2A 0 2 0 0 0 2
SCN3B 0 0 1 1 0 2
SEC63 0 1 1 0 0 2
SHOC2 1 0 1 0 0 2
SLC7A14 0 0 2 0 0 2
SPATA7 2 0 0 0 0 2
SPRED1 0 2 0 0 0 2
STAT5B 0 0 2 0 0 2
STING1 0 0 2 0 0 2
STXBP1 0 2 0 0 0 2
TAPBP 0 1 1 0 0 2
TCF3 0 0 2 0 0 2
TERT 0 0 2 0 0 2
THBD 0 0 2 0 0 2
TMPO 0 0 2 0 0 2
TNNC1 0 0 2 0 0 2
TPP1 1 1 0 0 0 2
TSFM 1 0 1 0 0 2
TSPAN12 0 1 1 0 0 2
TTR 1 0 1 0 0 2
TYK2 0 0 2 0 0 2
WNT5A 0 0 2 0 0 2
XIAP 1 0 1 0 0 2
ZNF513 0 0 2 0 0 2
ABCC6 1 0 0 0 0 1
ABCG5, DYNC2LI1 0 1 0 0 0 1
ABHD12, LOC126863008 0 0 1 0 0 1
ABL1 0 0 1 0 0 1
ACADVL 0 0 1 0 0 1
ACADVL, DLG4 0 0 1 0 0 1
ACBD6, LHX4 0 0 1 0 0 1
ACD, CARMIL2 0 0 1 0 0 1
ACO2 0 0 1 0 0 1
ACTA1 0 0 1 0 0 1
ACTB 0 0 1 0 0 1
ACTN1 0 0 1 0 0 1
ACTRT2, ARHGEF16, C1orf174, CALML6, CCDC27, CEP104, CFAP74, DFFB, FAAP20, GABRD, GNB1, HES5, LRRC47, MEGF6, MIR551A, MMEL1, MORN1, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, RER1, SKI, SLC35E2A, SMIM1, TMEM52, TNFRSF14, TP73, TPRG1L, TTC34, WRAP73 1 0 0 0 0 1
ACVRL1 1 0 0 0 0 1
ADAM17 0 0 1 0 0 1
AICDA 1 0 0 0 0 1
AK2 0 1 0 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2B, C16orf54, CDIPT, CORO1A, DOC2A, FIMP1, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SLX1B, SPN, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
APOA1 1 0 0 0 0 1
ARHGAP15, HNMT, KYNU, LRP1B, NXPH2, QTMAN, SPOPL, THSD7B, ZEB2 1 0 0 0 0 1
ARPC1B 0 0 1 0 0 1
ARSB 0 1 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 1
AXDND1, NPHS2 0 0 1 0 0 1
BBS5 0 1 0 0 0 1
BEST1, FTH1 1 0 0 0 0 1
C1QA 0 1 0 0 0 1
C1R 0 0 1 0 0 1
C8G 0 0 1 0 0 1
CACNA1A 0 1 0 0 0 1
CACNA1A, LOC126862866 0 1 0 0 0 1
CANT1 1 0 0 0 0 1
CARMIL2 0 0 1 0 0 1
CASQ2 0 1 0 0 0 1
CAV3, OXTR 0 0 0 0 1 1
CBS 1 0 0 0 0 1
CC2D2A 0 1 0 0 0 1
CCDC107, RMRP 1 0 0 0 0 1
CCDC40 0 0 1 0 0 1
CD3D 0 0 1 0 0 1
CD40 0 0 1 0 0 1
CDH3 1 0 0 0 0 1
CDKL5 0 1 0 0 0 1
CDKN1C 0 1 0 0 0 1
CDT1 0 1 0 0 0 1
CERKL, LOC129935214 0 0 1 0 0 1
CFAP410, LOC130066823 1 0 0 0 0 1
CFAP418 0 0 1 0 0 1
CFAP47, CYBB, DYNLT3, FAM47C, H2AP, LANCL3, MAGEB16, OTC, PRRG1, RPGR, SRPX, SYTL5, TSPAN7, XK 1 0 0 0 0 1
CFI 0 0 1 0 0 1
CFTR, LOC111674472 0 0 1 0 0 1
CLCN5, LOC126863258 0 0 1 0 0 1
CLCN7 0 0 1 0 0 1
COL18A1, SLC19A1 1 0 0 0 0 1
COL1A1, LOC126862586 0 0 1 0 0 1
COL3A1, LOC126806446 0 0 1 0 0 1
COL9A1 0 0 1 0 0 1
COL9A2 1 0 0 0 0 1
COL9A3 0 0 1 0 0 1
COMT, TXNRD2 0 0 1 0 0 1
CR2, LOC126805994 0 0 1 0 0 1
CREBBP, LOC130058353 0 1 0 0 0 1
CRTAP, LOC129936436 1 0 0 0 0 1
CSF2RA 0 0 1 0 0 1
CSF3R 0 0 1 0 0 1
CTC1 0 0 1 0 0 1
CTSC 0 0 1 0 0 1
CWC27 0 1 0 0 0 1
CXCR4 0 0 1 0 0 1
CYBA 1 0 0 0 0 1
CYP2U1, SGMS2 0 0 1 0 0 1
DCLRE1C 0 1 0 0 0 1
DCX 0 1 0 0 0 1
DGKE 0 0 1 0 0 1
DHODH 0 1 0 0 0 1
DLL3 0 0 1 0 0 1
DNAAF1 0 0 1 0 0 1
DNAAF11 0 0 1 0 0 1
DNAAF4, DNAAF4-CCPG1 0 1 0 0 0 1
DNAH5 0 1 0 0 0 1
DNAJC21 0 0 1 0 0 1
DNMT3B 0 0 1 0 0 1
DOCK2, LOC126807589 0 1 0 0 0 1
DOCK8 0 0 1 0 0 1
DOP1A, PGM3 0 0 1 0 0 1
DSC2, DSCAS 0 0 1 0 0 1
DSC2, DSG2 0 1 0 0 0 1
EFEMP2 0 0 1 0 0 1
EFTUD2 0 0 1 0 0 1
EP300 0 0 1 0 0 1
ESCO2 0 1 0 0 0 1
EVC 0 0 1 0 0 1
EXT2 1 0 0 0 0 1
EYA4 0 0 1 0 0 1
FAM161A, LOC129933843 0 0 1 0 0 1
FGD1 0 0 1 0 0 1
FGFR1 0 0 1 0 0 1
FGFR2 1 0 0 0 0 1
FKBP10 1 0 0 0 0 1
FLVCR1, LOC129932486 0 0 1 0 0 1
FN1 0 0 1 0 0 1
FRMD7 1 0 0 0 0 1
GATA4 0 0 1 0 0 1
GATA6 0 0 1 0 0 1
GATAD1, PEX1 0 1 0 0 0 1
GDF5 1 0 0 0 0 1
GFI1 0 0 1 0 0 1
GLB1 0 0 0 1 0 1
GNAT2 0 1 0 0 0 1
GNAT2, LOC129388577 0 1 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 0 1 0 0 0 1
HAX1 0 0 1 0 0 1
HDAC8 0 1 0 0 0 1
HGSNAT, LOC130000316 0 0 1 0 0 1
HNF1B 0 0 1 0 0 1
HYDIN 0 0 1 0 0 1
HYOU1 0 0 1 0 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFNAR2-IL10RB, IL10RB 0 1 0 0 0 1
IFNGR1 1 0 0 0 0 1
IFNGR2 0 0 1 0 0 1
IL36RN 0 0 1 0 0 1
ILK, LOC130005201 0 0 1 0 0 1
IMPDH1, LOC129999258 0 0 1 0 0 1
INF2 0 0 1 0 0 1
INPPL1 0 1 0 0 0 1
INVS 0 1 0 0 0 1
IRF2BP2, LOC129932812 0 0 1 0 0 1
ITK 0 0 1 0 0 1
JAG1 0 1 0 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 1
KIF1A 0 1 0 0 0 1
KIRREL2, NPHS1 1 0 0 0 0 1
KIZ, LOC130065509 1 0 0 0 0 1
LAT 0 1 0 0 0 1
LIFR 1 0 0 0 0 1
LOC101927055, TTN 0 1 0 0 0 1
LOC102723692, XYLT1 1 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 1
LOC107652445, SHOX 0 0 1 0 0 1
LOC110806306, TERC 0 0 1 0 0 1
LOC114827850, MYL2 1 0 0 0 0 1
LOC124418421, STIM1 0 0 1 0 0 1
LOC126805612, PIK3CD 0 0 1 0 0 1
LOC126805613, NMNAT1 0 0 1 0 0 1
LOC126806067, RYR2 0 0 1 0 0 1
LOC126806428, TTN 0 0 0 1 0 1
LOC126806431, TTN 0 0 1 0 0 1
LOC126806913, OPA1 0 0 1 0 0 1
LOC126859837, SYNE1 0 0 0 1 0 1
LOC126861318, MMP13 0 1 0 0 0 1
LOC129935183, TTN 0 0 1 0 0 1
LOC129935184, TTN 0 0 1 0 0 1
LOC129996517, POLR1C 0 0 1 0 0 1
LOC129996881, PRDM13 0 0 1 0 0 1
LOC130005165, STIM1 0 0 1 0 0 1
LOC130008520, TMPO 0 0 1 0 0 1
LOC130055403, TINF2 0 1 0 0 0 1
LOC130057222, TPM1 0 0 1 0 0 1
LOC130059892, SERPINF1 1 0 0 0 0 1
LOC130062586, MALT1 0 0 1 0 0 1
LOC130063193, MAP2K2 0 0 1 0 0 1
LOC130063377, PNPLA6 0 0 1 0 0 1
LOC130068854, MECP2 0 1 0 0 0 1
LPL 1 0 0 0 0 1
MAGT1 0 1 0 0 0 1
MASP2 0 0 1 0 0 1
MATN3 0 0 1 0 0 1
MEF2C 1 0 0 0 0 1
MEFV 0 0 1 0 0 1
MFAP5 0 0 1 0 0 1
MIR1225, PKD1, TSC2 1 0 0 0 0 1
MMACHC 0 1 0 0 0 1
MSN 0 1 0 0 0 1
MTM1 1 0 0 0 0 1
MYCN 0 0 1 0 0 1
NBN 0 0 1 0 0 1
NCAPH2, SCO2 0 1 0 0 0 1
NOD2 0 0 1 0 0 1
NOVA2 0 1 0 0 0 1
NPR2, SPAG8 1 0 0 0 0 1
NRAS 1 0 0 0 0 1
ODAD1 0 0 1 0 0 1
PARN 0 0 1 0 0 1
PCDH19 0 1 0 0 0 1
PDE6G 0 0 1 0 0 1
PGM3 0 1 0 0 0 1
PIGT 0 1 0 0 0 1
PIK3R1 1 0 0 0 0 1
PNPLA6 0 0 1 0 0 1
POLR1C 0 0 1 0 0 1
PPP1CB 1 0 0 0 0 1
PPT1 1 0 0 0 0 1
PRDM13 0 0 1 0 0 1
PRF1 0 0 1 0 0 1
PRKCSH 0 1 0 0 0 1
PRPF8, RILP 0 1 0 0 0 1
PSEN2 0 0 1 0 0 1
RAB27A 0 1 0 0 0 1
RIC3, TUB 0 1 0 0 0 1
RMRP 0 1 0 0 0 1
RNASEH2A 1 0 0 0 0 1
RNASEH2B 1 0 0 0 0 1
RNF31 0 0 1 0 0 1
RRAS 0 0 1 0 0 1
SAMD9 0 0 1 0 0 1
SAMHD1, TLDC2 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCN4B 0 0 1 0 0 1
SDHA 0 0 1 0 0 1
SH2D1A 0 1 0 0 0 1
SIX5 0 0 1 0 0 1
SLC19A3 1 0 0 0 0 1
SLC29A3 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 1
SLC34A3 1 0 0 0 0 1
SLC6A8 0 1 0 0 0 1
SLC7A9 1 0 0 0 0 1
SLMAP 0 0 1 0 0 1
SOS2 0 0 1 0 0 1
SPINK5 1 0 0 0 0 1
STXBP2 1 0 0 0 0 1
SYNE1 0 0 1 0 0 1
SYNGAP1 0 1 0 0 0 1
TAFAZZIN 0 0 1 0 0 1
TAP1 0 0 1 0 0 1
TAP2 0 0 1 0 0 1
TBX1 0 0 1 0 0 1
TBX5 0 0 1 0 0 1
TEAD3, TULP1 0 1 0 0 0 1
TNFAIP3 0 0 1 0 0 1
TP63 1 0 0 0 0 1
TRIP11 0 1 0 0 0 1
TRPC6 0 0 1 0 0 1
TSC1 0 1 0 0 0 1
UMOD 0 1 0 0 0 1
UNC119 0 0 1 0 0 1
WNT1 0 1 0 0 0 1
ZNF408 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 124
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Retinal dystrophy 789 852 1088 0 0 2729
not provided 286 422 757 0 0 1465
Primary familial hypertrophic cardiomyopathy 35 60 218 25 3 341
Primary dilated cardiomyopathy 8 49 125 9 0 191
Retinitis pigmentosa 3 51 45 10 0 0 106
not specified 0 0 10 45 4 59
Arrhythmogenic right ventricular cardiomyopathy 6 13 37 2 0 58
Marfan syndrome 9 35 13 1 0 58
Familial thoracic aortic aneurysm and aortic dissection 1 2 39 9 2 53
Long QT syndrome 1 3 41 3 0 48
Left ventricular noncompaction cardiomyopathy 1 6 33 2 0 42
Cardiac arrest 0 2 28 4 0 34
Catecholaminergic polymorphic ventricular tachycardia 1 1 13 15 0 0 29
Cardiomyopathy 2 3 21 1 0 27
Brugada syndrome 1 5 13 1 0 20
Long QT syndrome 2 10 7 3 0 0 20
Loeys-Dietz syndrome 0 12 7 0 0 19
Noonan syndrome 11 2 2 0 0 15
Ventricular fibrillation, paroxysmal familial, type 1 0 3 10 2 0 15
Sudden cardiac death 0 1 13 0 0 14
Ventricular fibrillation 0 0 13 1 0 14
Hypercholesterolemia, familial, 1 4 3 2 1 0 10
Proteinuria 1 0 8 1 0 10
Ventricular tachycardia 0 0 10 0 0 10
Arterial dissection 0 0 5 0 0 5
Disproportionate tall stature 0 0 5 0 0 5
Familial idiopathic steroid-resistant nephrotic syndrome 2 2 1 0 0 5
Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 5 0 0 5
Hemochromatosis type 1 3 0 2 0 0 5
Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection 0 0 4 0 0 4
Costello syndrome 2 1 1 0 0 4
Fabry disease 1 2 1 0 0 4
Restrictive cardiomyopathy 1 3 0 0 0 4
Rett syndrome 1 3 0 0 0 4
Andersen Tawil syndrome 2 1 0 0 0 3
Cardio-facio-cutaneous syndrome 1 1 1 0 0 3
Conduction system disorder 0 1 2 0 0 3
Ehlers-Danlos syndrome, type 4 0 2 1 0 0 3
Finnish congenital nephrotic syndrome 2 1 0 0 0 3
Paroxysmal atrial fibrillation 0 0 2 1 0 3
Restrictive cardiomyopathy; Long QT syndrome 0 0 3 0 0 3
Severe myoclonic epilepsy in infancy 2 1 0 0 0 3
Developmental and epileptic encephalopathy 94 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 11 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 32 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 4 0 2 0 0 0 2
Diastolic dysfunction 0 0 2 0 0 2
Focal segmental glomerulosclerosis 0 0 2 0 0 2
Global developmental delay; Short stature; Ventricular septal defect 0 0 2 0 0 2
Heart disease 0 0 2 0 0 2
Neuronal ceroid lipofuscinosis 2 1 1 0 0 0 2
Primary dilated cardiomyopathy; Long QT syndrome 0 1 1 0 0 2
Primary dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy 0 1 1 0 0 2
Primary familial hypertrophic cardiomyopathy; Long QT syndrome 0 0 1 1 0 2
Pulmonary hypertension, primary, 1 1 1 0 0 0 2
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 1 1 0 2
Short QT syndrome 0 0 1 1 0 2
Skeletal myopathy 0 0 2 0 0 2
8q24.3 microdeletion syndrome 0 1 0 0 0 1
AV Block Third Degree Adverse Event 0 0 1 0 0 1
AV junctional rhythm; Ventricular tachycardia 0 0 1 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 0 1
Angelman syndrome 1 0 0 0 0 1
Aortic aneurysm, familial abdominal, 1 0 0 0 1 0 1
Arterial dissection; Cutaneous polyarteritis nodosa 0 0 1 0 0 1
Atrial septal defect 2 0 0 1 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 0 1
Cafe au lait spots, multiple; Atrial septal defect 0 0 1 0 0 1
Cardiac arrhythmia 0 0 1 0 0 1
Channelopathy 0 0 1 0 0 1
Chromosome 1p36 deletion syndrome 1 0 0 0 0 1
Collapse (finding) 0 0 1 0 0 1
Collapse (finding); Family history of sudden cardiac death 0 0 1 0 0 1
Collapse (finding); Ventricular tachycardia 0 0 1 0 0 1
Congenital contractural arachnodactyly 0 1 0 0 0 1
Coronary heart disease 1 0 0 0 0 1
Creatine transporter deficiency 0 1 0 0 0 1
Cyclical neutropenia 0 1 0 0 0 1
Danon disease 0 1 0 0 0 1
Desmin-related myofibrillar myopathy 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 9 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 1
Ehlers-Danlos syndrome, type 3 0 0 1 0 0 1
Episodic ataxia type 2 0 1 0 0 0 1
First degree atrioventricular block 0 0 1 0 0 1
Hutchinson-Gilford progeria syndrome, childhood-onset; Right ventricular cardiomyopathy 1 0 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 0 0 1
Hypertrophic cardiomyopathy 6 1 0 0 0 0 1
Intellectual disability, autosomal dominant 5 0 1 0 0 0 1
Intellectual disability, autosomal dominant 9 0 1 0 0 0 1
Joubert syndrome 27 0 0 1 0 0 1
Leber congenital amaurosis 2 0 1 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 0 0 1
Long QT syndrome 11 0 1 0 0 0 1
Long QT syndrome 3 1 0 0 0 0 1
Meckel syndrome, type 9; Joubert syndrome 27 0 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 1 0 0 0 1
Nephrotic syndrome 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 0 0 0 0 1
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 1 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 7 1 0 0 0 0 1
Noonan syndrome with multiple lentigines 1 0 0 0 0 1
Pierson syndrome 1 0 0 0 0 1
Premature ventricular contraction 0 0 1 0 0 1
Premature ventricular contraction; Collapse (finding) 0 0 1 0 0 1
Primary dilated cardiomyopathy; Ventricular fibrillation, paroxysmal familial, type 1 0 0 1 0 0 1
Proximal 16p11.2 microdeletion syndrome 1 0 0 0 0 1
Pulmonic stenosis; Supravalvar aortic stenosis 0 0 0 1 0 1
Retinitis pigmentosa 2 0 1 0 0 0 1
Retinitis pigmentosa 25 0 0 1 0 0 1
Shprintzen-Goldberg syndrome 0 1 0 0 0 1
Sick sinus syndrome 0 1 0 0 0 1
Sitosterolemia 0 1 0 0 0 1
Spastic paraplegia 1 0 0 0 0 1
Subvalvular aortic stenosis 0 0 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2 1 0 0 0 0 1
Timothy syndrome 1 0 0 0 0 1
Trifascicular block on electrocardiogram 0 0 1 0 0 1
Tuberous sclerosis 1 0 1 0 0 0 1

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