ClinVar Miner

Variants from Blueprint Genetics,

Location: Finland — 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 risk factor total
321 566 1353 104 9 3 2348

Gene and significance breakdown #

Total genes and gene combinations: 352
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
MYBPC3 46 54 46 7 0 0 150
TTN 7 65 37 9 0 0 115
FBN1 16 60 24 2 0 0 102
MYH7 23 37 38 3 0 0 101
PKD1 17 31 34 0 0 0 82
DSP 0 12 51 4 0 0 66
RYR2 1 12 41 0 0 0 54
SCN5A 4 7 31 6 0 0 48
PKHD1 9 18 18 0 0 0 45
KCNH2 9 9 11 2 0 1 32
LMNA 5 13 9 0 0 0 27
PTPN11 25 1 1 0 0 0 27
NOTCH1 0 1 22 3 0 0 26
PKP2 6 4 11 3 1 0 25
RBM20 2 1 20 1 1 0 25
TNNT2 5 6 11 2 0 0 24
COL5A2 0 1 19 2 0 0 22
MYH6 0 0 19 2 1 0 22
ANK2 0 1 18 2 0 0 21
DSG2 1 3 17 0 0 0 21
COL3A1 1 8 10 1 0 0 20
PKD2 5 10 5 0 0 0 20
TPM1 2 4 14 1 0 0 20
AKAP9 0 1 16 2 0 0 19
RAF1 4 7 8 0 0 0 19
SOS1 9 2 7 1 0 0 19
ACTN2 0 0 18 0 0 0 18
DSC2 0 2 9 5 1 0 17
FLNC 0 5 12 0 0 0 17
TNNI3 5 4 8 0 0 0 17
FBN2 0 2 14 0 0 0 16
JPH2 0 1 15 0 0 0 16
LRBA 0 1 15 0 0 0 16
MYH11 0 1 13 0 2 0 16
ACTA2 3 4 7 0 0 0 14
BAG3 1 3 10 0 0 0 14
COL5A1 0 0 13 1 0 0 14
CTNNA3 0 0 14 0 0 0 14
JUP 0 1 12 1 0 0 14
TGFBR1 1 3 10 0 0 0 14
DMD 0 0 13 0 0 0 13
SMAD3 1 4 8 0 0 0 13
TGFBR2 1 5 7 0 0 0 13
CACNA1C 1 2 8 1 0 0 12
LAMA4 0 0 12 0 0 0 12
MYPN 0 0 9 3 0 0 12
CARD11 1 0 10 0 0 0 11
CSRP3 0 0 10 0 1 0 11
DES 1 3 7 0 0 0 11
MHRT, MYH7 0 4 6 1 0 0 11
NPHS1 2 2 6 1 0 0 11
PRKAG2 1 0 10 0 0 0 11
TRPM4 0 0 10 1 0 0 11
LOC105371049, PKD1 3 6 1 0 0 0 10
MYL3 0 2 8 0 0 0 10
NEXN 0 1 8 1 0 0 10
TGFB2 0 7 3 0 0 0 10
ABCC9 0 0 8 1 0 0 9
ACTC1, LOC101928174 1 0 7 1 0 0 9
GLA, RPL36A-HNRNPH2 3 3 3 0 0 0 9
KRAS 4 4 1 0 0 0 9
LAMP2 1 3 5 0 0 0 9
MYOM1 0 0 8 1 0 0 9
NF1 3 4 2 0 0 0 9
NFKB1 0 5 4 0 0 0 9
RAG1 3 2 4 0 0 0 9
TXNRD2 0 0 9 0 0 0 9
BRAF 5 3 0 0 0 0 8
FLNA 0 1 7 0 0 0 8
LDB3 0 0 4 4 0 0 8
PIK3CD 1 0 7 0 0 0 8
STAT3 2 3 3 0 0 0 8
DOCK2 0 1 6 0 0 0 7
HCN4 0 0 7 0 0 0 7
HRAS, LRRC56 3 1 2 1 0 0 7
LDLR 4 3 0 0 0 0 7
MYH11, NDE1 0 1 4 1 1 0 7
MYLK 0 0 6 1 0 0 7
TMEM43 1 0 5 1 0 0 7
VCL 0 0 7 0 0 0 7
ALPK3 0 2 4 0 0 0 6
CACNB2, NSUN6 0 0 6 0 0 0 6
DTNA 0 0 6 0 0 0 6
ELN 0 2 4 0 0 0 6
FHL1 0 2 4 0 0 0 6
GATA5 0 0 5 1 0 0 6
ILK, TAF10 0 0 5 1 0 0 6
LZTR1 0 2 4 0 0 0 6
MYL2 1 1 4 0 0 0 6
NEBL 0 0 6 0 0 0 6
PLCG2 0 0 6 0 0 0 6
PRKDC 0 0 6 0 0 0 6
SKI 0 1 4 1 0 0 6
TGFB3 0 2 4 0 0 0 6
TNFRSF13B 0 0 6 0 0 0 6
AIRE 2 1 2 0 0 0 5
ANKRD1 0 0 5 0 0 0 5
CFH 0 0 5 0 0 0 5
COL1A2 0 0 5 0 0 0 5
CR2 0 0 5 0 0 0 5
FHL2 0 0 5 0 0 0 5
IRF2BP2 0 0 5 0 0 0 5
KCNJ2 2 1 2 0 0 0 5
MIB1 0 0 4 1 0 0 5
SNTA1 0 0 4 1 0 0 5
STAT2 0 0 5 0 0 0 5
SYNE2 0 0 3 2 0 0 5
TRIM63 0 0 3 2 0 0 5
ADA 3 1 0 0 0 0 4
ADA2 0 2 2 0 0 0 4
APOB 0 1 2 1 0 0 4
ATM 1 2 1 0 0 0 4
ATM, C11orf65 2 0 2 0 0 0 4
BTK 0 3 1 0 0 0 4
C3 0 0 4 0 0 0 4
COL5A1, LOC101448202 0 0 3 1 0 0 4
CTLA4 1 0 3 0 0 0 4
DPP6 0 0 4 0 0 0 4
ELANE 1 1 2 0 0 0 4
JAK3 1 0 3 0 0 0 4
LYST 0 0 4 0 0 0 4
MASP1 0 1 3 0 0 0 4
NFKB2 0 1 3 0 0 0 4
NPHP3, NPHP3-ACAD11 0 4 0 0 0 0 4
RFX5 1 1 2 0 0 0 4
RIT1 4 0 0 0 0 0 4
WT1 2 1 1 0 0 0 4
ZAP70 1 1 2 0 0 0 4
BACH2 0 0 3 0 0 0 3
C7 2 0 1 0 0 0 3
CACNA2D1 0 0 2 1 0 0 3
CALR3 0 0 2 1 0 0 3
CBL 1 0 2 0 0 0 3
CD19 0 1 2 0 0 0 3
CD40LG 0 2 1 0 0 0 3
COL11A1 0 2 1 0 0 0 3
COL1A1 0 0 3 0 0 0 3
COL2A1 0 0 3 0 0 0 3
CRYAB 0 0 3 0 0 0 3
DMPK 0 0 2 1 0 0 3
FAS 0 2 1 0 0 0 3
GAA 1 0 2 0 0 0 3
GATA2 0 3 0 0 0 0 3
GPD1L 0 0 2 1 0 0 3
HFE, LOC108783645 2 0 1 0 0 0 3
IFIH1 1 0 2 0 0 0 3
IKZF1 0 1 2 0 0 0 3
IL2RG 0 1 2 0 0 0 3
IL7R 0 0 3 0 0 0 3
ITGB2 1 1 1 0 0 0 3
LOC106029312, NCF1 2 1 0 0 0 0 3
LOC114827851, MYH6 0 0 2 1 0 0 3
MAP2K2 2 0 1 0 0 0 3
MVK 1 1 1 0 0 0 3
NLRP1 0 0 3 0 0 0 3
NLRP12 0 0 3 0 0 0 3
PDLIM3 0 0 3 0 0 0 3
PNP 0 3 0 0 0 0 3
POLE 0 1 2 0 0 0 3
PRKG1 0 0 2 1 0 0 3
PTPRC 0 1 2 0 0 0 3
RFXANK 0 2 1 0 0 0 3
TCAP 0 0 2 1 0 0 3
TMPO 0 0 3 0 0 0 3
BGN 0 1 1 0 0 0 2
BMPR2 1 1 0 0 0 0 2
C2 1 1 0 0 0 0 2
C6 1 0 1 0 0 0 2
CALM1 0 2 0 0 0 0 2
CARD9 0 1 1 0 0 0 2
CARMIL2 0 0 2 0 0 0 2
CASP8 0 0 2 0 0 0 2
CD27 0 1 1 0 0 0 2
CD81 0 0 2 0 0 0 2
CEP85L, PLN 1 1 0 0 0 0 2
CFD 0 1 1 0 0 0 2
CFTR 2 0 0 0 0 0 2
CIITA 0 1 1 0 0 0 2
CLASP1, RNU4ATAC 2 0 0 0 0 0 2
COPA 0 0 2 0 0 0 2
CTF1 0 0 1 1 0 0 2
CYBB 0 1 1 0 0 0 2
DNAAF5 0 0 2 0 0 0 2
DNAH11 0 0 2 0 0 0 2
DYSF 0 0 2 0 0 0 2
EMD 0 0 2 0 0 0 2
ENG 0 1 1 0 0 0 2
FOXP3 0 1 1 0 0 0 2
FPGT-TNNI3K, TNNI3K 0 0 2 0 0 0 2
G6PD 0 0 2 0 0 0 2
GANAB 0 0 2 0 0 0 2
HFE 1 0 1 0 0 0 2
IL12RB1 2 0 0 0 0 0 2
KCND3 0 0 1 1 0 0 2
KCNE1 0 0 0 1 0 1 2
KCNJ8 0 0 2 0 0 0 2
LAMB2 1 0 1 0 0 0 2
LIG4 1 0 1 0 0 0 2
LOC110121269, SCN5A 0 1 1 0 0 0 2
LPIN2 0 0 2 0 0 0 2
MALT1 0 1 1 0 0 0 2
MYLK2 0 0 2 0 0 0 2
NCF2 0 1 1 0 0 0 2
NFKBIA 0 0 2 0 0 0 2
NLRC4 0 1 1 0 0 0 2
NLRP3 0 1 1 0 0 0 2
NPHS2 1 0 1 0 0 0 2
PAX2 1 1 0 0 0 0 2
PRDM16 0 0 2 0 0 0 2
RAG2 0 2 0 0 0 0 2
RFXAP 0 0 2 0 0 0 2
RNASEH2C 0 0 2 0 0 0 2
RTEL1, RTEL1-TNFRSF6B 0 0 2 0 0 0 2
SAMHD1 0 0 2 0 0 0 2
SBDS 1 1 0 0 0 0 2
SCN1B 0 0 1 1 0 0 2
SCN3B 0 0 1 1 0 0 2
SEC63 0 1 1 0 0 0 2
SHOC2 1 0 1 0 0 0 2
SPRED1 0 2 0 0 0 0 2
STAT5B 0 0 2 0 0 0 2
STIM1 0 0 2 0 0 0 2
SYNE1 0 0 1 1 0 0 2
TAPBP 0 1 1 0 0 0 2
TCF3 0 0 2 0 0 0 2
TERT 0 0 2 0 0 0 2
THBD 0 0 2 0 0 0 2
TMEM173 0 0 2 0 0 0 2
TNNC1 0 0 2 0 0 0 2
TSFM 1 0 1 0 0 0 2
TTR 1 0 1 0 0 0 2
TYK2 0 0 2 0 0 0 2
WDR19 1 1 0 0 0 0 2
XIAP 1 0 1 0 0 0 2
ABCC6 1 0 0 0 0 0 1
ABCG5, DYNC2LI1 0 1 0 0 0 0 1
ABL1 0 0 1 0 0 0 1
ACADVL 0 0 1 0 0 0 1
ACADVL, DLG4 0 0 1 0 0 0 1
ACTA1 0 0 1 0 0 0 1
ACTB 0 0 1 0 0 0 1
ACTN1 0 0 1 0 0 0 1
ACVRL1 1 0 0 0 0 0 1
ADA, LOC107303343 0 0 1 0 0 0 1
ADAM17 0 0 1 0 0 0 1
AICDA 1 0 0 0 0 0 1
AK2 0 1 0 0 0 0 1
APOA1 1 0 0 0 0 0 1
ARPC1B 0 0 1 0 0 0 1
AXDND1, NPHS2 0 0 1 0 0 0 1
C1QA 0 1 0 0 0 0 1
C1R 0 0 1 0 0 0 1
C8G 0 0 1 0 0 0 1
CACNB2 0 0 1 0 0 0 1
CASQ2 0 1 0 0 0 0 1
CAV3 0 0 0 0 1 0 1
CBS 1 0 0 0 0 0 1
CCDC114 0 0 1 0 0 0 1
CCDC40 0 0 1 0 0 0 1
CD3D 0 0 1 0 0 0 1
CD40 0 0 1 0 0 0 1
CFI 0 0 1 0 0 0 1
CFTR, LOC111674472 0 0 1 0 0 0 1
CLCN5 0 0 1 0 0 0 1
CLCN7 0 0 1 0 0 0 1
COMT, TXNRD2 0 0 1 0 0 0 1
CSF2RA 0 0 1 0 0 0 1
CSF3R 0 0 1 0 0 0 1
CTC1 0 0 1 0 0 0 1
CTSC 0 0 1 0 0 0 1
CXCR4 0 0 1 0 0 0 1
CYBA 1 0 0 0 0 0 1
DCLRE1C 0 1 0 0 0 0 1
DGKE 0 0 1 0 0 0 1
DNAAF1 0 0 1 0 0 0 1
DNAAF4, DNAAF4-CCPG1 0 1 0 0 0 0 1
DNAH5 0 1 0 0 0 0 1
DNAJC21 0 0 1 0 0 0 1
DNMT3B 0 0 1 0 0 0 1
DOCK8 0 0 1 0 0 0 1
DSC2, DSCAS 0 0 1 0 0 0 1
EFEMP2 0 0 1 0 0 0 1
EYA4 0 0 1 0 0 0 1
FBLN5 0 0 1 0 0 0 1
GATA6 0 0 1 0 0 0 1
GFI1 0 0 1 0 0 0 1
GLB1 0 0 0 1 0 0 1
HAX1 0 0 1 0 0 0 1
HNF1B 0 0 1 0 0 0 1
HYDIN 0 0 1 0 0 0 1
HYOU1 0 0 1 0 0 0 1
IFNGR1 1 0 0 0 0 0 1
IFNGR2 0 0 1 0 0 0 1
IL10RB 0 1 0 0 0 0 1
IL36RN 0 0 1 0 0 0 1
ILK 0 0 1 0 0 0 1
INF2 0 0 1 0 0 0 1
INVS 0 1 0 0 0 0 1
ITK 0 0 1 0 0 0 1
KCNE2 0 0 1 0 0 0 1
LAT 0 1 0 0 0 0 1
LOC100128979, TPM1 0 0 1 0 0 0 1
LOC101927055, TTN 0 1 0 0 0 0 1
LOC101927322, MALT1 0 0 1 0 0 0 1
LOC110806306, TERC 0 0 1 0 0 0 1
LOC114827850, MYL2 1 0 0 0 0 0 1
LPL 0 0 0 0 0 1 1
LRP5 0 0 1 0 0 0 1
LRRC6 0 0 1 0 0 0 1
MAGT1 0 1 0 0 0 0 1
MASP2 0 0 1 0 0 0 1
MEFV 0 0 1 0 0 0 1
MFAP5 0 0 1 0 0 0 1
MSN 0 1 0 0 0 0 1
NBN 0 0 1 0 0 0 1
NCAPH2, SCO2 0 1 0 0 0 0 1
NOD2 0 0 1 0 0 0 1
NRAS 1 0 0 0 0 0 1
PARN 0 0 1 0 0 0 1
PIK3R1 1 0 0 0 0 0 1
PPP1CB 1 0 0 0 0 0 1
PRF1 0 0 1 0 0 0 1
PRKCSH 0 1 0 0 0 0 1
PSEN2 0 0 1 0 0 0 1
RAB27A 0 1 0 0 0 0 1
RNASEH2A 1 0 0 0 0 0 1
RNF31 0 0 1 0 0 0 1
RRAS 0 0 1 0 0 0 1
SAMD9 0 0 1 0 0 0 1
SAMHD1, TLDC2 0 0 1 0 0 0 1
SCN1A, SCN9A 0 0 1 0 0 0 1
SCN4B 0 0 1 0 0 0 1
SDHA 0 0 1 0 0 0 1
SH2D1A 0 1 0 0 0 0 1
SIX5 0 0 1 0 0 0 1
SLC29A3 1 0 0 0 0 0 1
SLC2A10 0 0 1 0 0 0 1
SLC7A9 1 0 0 0 0 0 1
SLMAP 0 0 1 0 0 0 1
SOS2 0 0 1 0 0 0 1
SPINK5 1 0 0 0 0 0 1
STXBP2 1 0 0 0 0 0 1
TAP1 0 0 1 0 0 0 1
TAP2 0 0 1 0 0 0 1
TAZ 0 0 1 0 0 0 1
TBX1 0 0 1 0 0 0 1
TBX5 0 0 1 0 0 0 1
TINF2 0 1 0 0 0 0 1
TNFAIP3 0 0 1 0 0 0 1
TRPC6 0 0 1 0 0 0 1
UMOD 0 1 0 0 0 0 1
UNC119 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 87
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 220 319 642 0 0 0 1181
Primary familial hypertrophic cardiomyopathy 35 63 219 25 3 0 345
Primary dilated cardiomyopathy 8 52 125 9 0 0 194
not specified 0 0 10 45 4 0 59
Arrhythmogenic right ventricular cardiomyopathy 6 13 37 2 0 0 58
Marfan syndrome 9 35 13 1 0 0 58
Thoracic aortic aneurysm and aortic dissection 1 2 39 9 2 0 53
Long QT syndrome 1 3 41 2 0 1 48
Left ventricular noncompaction cardiomyopathy 1 6 33 2 0 0 42
Cardiac arrest 0 2 28 4 0 0 34
Catecholaminergic polymorphic ventricular tachycardia type 1 1 13 16 0 0 0 30
Cardiomyopathy 2 3 21 1 0 0 27
Brugada syndrome 1 5 13 1 0 0 20
Long QT syndrome 2 9 7 3 0 0 1 20
Loeys-Dietz syndrome 0 12 7 0 0 0 19
Noonan syndrome 11 2 2 0 0 0 15
Paroxysmal familial ventricular fibrillation 1 0 3 10 2 0 0 15
Sudden cardiac death 0 1 13 0 0 0 14
Ventricular fibrillation 0 0 13 1 0 0 14
Familial hypercholesterolemia 4 3 2 1 0 0 10
Proteinuria 1 0 8 1 0 0 10
Ventricular tachycardia 0 0 10 0 0 0 10
Arterial dissection 0 0 5 0 0 0 5
Hemochromatosis type 1 3 0 2 0 0 0 5
Hereditary nephrotic syndrome 2 2 1 0 0 0 5
Marfanoid habitus 0 0 5 0 0 0 5
Aortic valve disorder; Thoracic aortic aneurysm and aortic dissection 0 0 4 0 0 0 4
Costello syndrome 2 1 1 0 0 0 4
Fabry disease 1 2 1 0 0 0 4
Restrictive cardiomyopathy 1 3 0 0 0 0 4
Andersen Tawil syndrome 2 1 0 0 0 0 3
Cardiac conduction defect, nonspecific 0 1 2 0 0 0 3
Cardio-facio-cutaneous syndrome 1 1 1 0 0 0 3
Ehlers-Danlos syndrome, type 4 0 2 1 0 0 0 3
Finnish congenital nephrotic syndrome 2 1 0 0 0 0 3
Paroxysmal atrial fibrillation 0 0 2 1 0 0 3
Restrictive cardiomyopathy; Long QT syndrome 0 0 3 0 0 0 3
Thoracic aortic aneurysm and aortic dissection; Marfanoid habitus 0 0 3 0 0 0 3
Diastolic dysfunction 0 0 2 0 0 0 2
Focal segmental glomerulosclerosis 0 0 2 0 0 0 2
Heart disease 0 0 2 0 0 0 2
Primary dilated cardiomyopathy; Long QT syndrome 0 1 1 0 0 0 2
Primary dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy 0 1 1 0 0 0 2
Primary familial hypertrophic cardiomyopathy; Long QT syndrome 0 0 1 1 0 0 2
Primary pulmonary hypertension 1 1 0 0 0 0 2
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 1 1 0 0 2
Skeletal myopathy 0 0 2 0 0 0 2
Thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 2 0 0 0 2
short QT syndrome 0 0 1 1 0 0 2
AV Block Third Degree Adverse Event 0 0 1 0 0 0 1
AV junctional rhythm; Ventricular tachycardia 0 0 1 0 0 0 1
Arterial dissection; Cutaneous polyarteritis nodosa 0 0 1 0 0 0 1
Cardiac arrhythmia 0 0 1 0 0 0 1
Channelopathies 0 0 1 0 0 0 1
Collapse (finding) 0 0 1 0 0 0 1
Collapse (finding); History of Sudden Cardiac Death 0 0 1 0 0 0 1
Collapse (finding); Ventricular tachycardia 0 0 1 0 0 0 1
Congenital contractural arachnodactyly 0 1 0 0 0 0 1
Coronary heart disease 0 0 0 0 0 1 1
Cyclical neutropenia 0 1 0 0 0 0 1
Danon disease 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 3 0 0 1 0 0 0 1
Familial abdominal aortic aneurysm 1 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 6 1 0 0 0 0 0 1
First degree atrioventricular block 0 0 1 0 0 0 1
Hereditary hemorrhagic telangiectasia type 2 1 0 0 0 0 0 1
Hutchinson-Gilford progeria syndrome, childhood-onset; Right ventricular cardiomyopathy 1 0 0 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 0 0 0 1
Long QT syndrome 11 0 1 0 0 0 0 1
Long QT syndrome 3 1 0 0 0 0 0 1
Multiple cafe-au-lait spots; Atrial septal defect 0 0 1 0 0 0 1
Myofibrillar myopathy 1 1 0 0 0 0 0 1
Nephrotic syndrome 0 0 1 0 0 0 1
Noonan syndrome with multiple lentigines 1 0 0 0 0 0 1
Osler hemorrhagic telangiectasia syndrome 0 1 0 0 0 0 1
Pierson syndrome 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Paroxysmal familial ventricular fibrillation 1 0 0 1 0 0 0 1
Pulmonic stenosis; Supravalvar aortic stenosis 0 0 0 1 0 0 1
Shprintzen-Goldberg syndrome 0 1 0 0 0 0 1
Sick sinus syndrome 0 1 0 0 0 0 1
Sitosterolemia 0 1 0 0 0 0 1
Subvalvular aortic stenosis 0 0 1 0 0 0 1
Timothy syndrome 1 0 0 0 0 0 1
Trifascicular block on electrocardiogram 0 0 1 0 0 0 1
Ventricular extrasystoles 0 0 1 0 0 0 1
Ventricular extrasystoles; Collapse (finding) 0 0 1 0 0 0 1

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