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 |
326
|
167
|
107
|
1
|
0 |
3
|
604
|
Gene and significance breakdown #
Total genes and gene combinations: 103
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
risk factor |
total |
LDLR
|
27
|
37
|
2
|
0 |
0 |
66
|
BRCA2
|
51
|
3
|
1
|
0 |
0 |
55
|
BRCA1
|
27
|
4
|
0 |
0 |
0 |
31
|
AHDC1
|
27
|
0 |
0 |
0 |
0 |
27
|
RYR1
|
4
|
5
|
13
|
0 |
0 |
22
|
PALB2
|
11
|
5
|
1
|
0 |
0 |
17
|
TP53
|
13
|
3
|
0 |
0 |
0 |
16
|
CHEK2
|
10
|
5
|
0 |
0 |
0 |
15
|
KCNQ1
|
7
|
5
|
2
|
0 |
0 |
14
|
PMS2
|
10
|
3
|
1
|
0 |
0 |
14
|
ATM
|
9
|
2
|
1
|
0 |
0 |
12
|
PKP2
|
8
|
2
|
2
|
0 |
0 |
12
|
FBN1
|
2
|
4
|
5
|
0 |
0 |
11
|
MLH1
|
7
|
3
|
1
|
0 |
0 |
11
|
MYBPC3
|
9
|
2
|
0 |
0 |
0 |
11
|
SCN5A
|
3
|
6
|
2
|
0 |
0 |
11
|
ATM, C11orf65
|
6
|
4
|
0 |
0 |
0 |
10
|
MSH6
|
8
|
2
|
0 |
0 |
0 |
10
|
MYH7
|
4
|
6
|
0 |
0 |
0 |
10
|
POLR2A
|
1
|
8
|
0 |
1
|
0 |
10
|
BRCA1, LOC126862571
|
9
|
0 |
0 |
0 |
0 |
9
|
NF1
|
8
|
1
|
0 |
0 |
0 |
9
|
APOB
|
1
|
1
|
6
|
0 |
0 |
8
|
DSG2
|
2
|
6
|
0 |
0 |
0 |
8
|
DSP
|
0 |
1
|
7
|
0 |
0 |
8
|
KCNH2
|
2
|
3
|
3
|
0 |
0 |
8
|
TSC2
|
1
|
2
|
5
|
0 |
0 |
8
|
COL5A1
|
0 |
0 |
7
|
0 |
0 |
7
|
PTEN
|
5
|
1
|
0 |
0 |
0 |
6
|
COL3A1
|
0 |
2
|
3
|
0 |
0 |
5
|
DSC2
|
0 |
1
|
4
|
0 |
0 |
5
|
MSH2
|
5
|
0 |
0 |
0 |
0 |
5
|
RET
|
3
|
2
|
0 |
0 |
0 |
5
|
RYR2
|
0 |
0 |
5
|
0 |
0 |
5
|
TNNT2
|
2
|
2
|
1
|
0 |
0 |
5
|
KCNE1
|
1
|
1
|
1
|
0 |
1
|
4
|
PCSK9
|
0 |
1
|
3
|
0 |
0 |
4
|
SDHA
|
2
|
2
|
0 |
0 |
0 |
4
|
TNNI3
|
2
|
2
|
0 |
0 |
0 |
4
|
APC
|
2
|
0 |
0 |
0 |
1
|
3
|
CACNA1A
|
1
|
0 |
2
|
0 |
0 |
3
|
HNF1A
|
1
|
0 |
2
|
0 |
0 |
3
|
LPL
|
2
|
1
|
0 |
0 |
0 |
3
|
MC4R
|
1
|
2
|
0 |
0 |
0 |
3
|
MYH11
|
0 |
0 |
3
|
0 |
0 |
3
|
MYLK
|
1
|
0 |
2
|
0 |
0 |
3
|
SDHC
|
1
|
1
|
1
|
0 |
0 |
3
|
TGFBR2
|
1
|
1
|
1
|
0 |
0 |
3
|
TTN
|
1
|
2
|
0 |
0 |
0 |
3
|
UMOD
|
0 |
3
|
0 |
0 |
0 |
3
|
CACNA1S
|
0 |
0 |
2
|
0 |
0 |
2
|
CBL
|
1
|
1
|
0 |
0 |
0 |
2
|
DICER1
|
2
|
0 |
0 |
0 |
0 |
2
|
F11
|
2
|
0 |
0 |
0 |
0 |
2
|
GLA, RPL36A-HNRNPH2
|
2
|
0 |
0 |
0 |
0 |
2
|
HNF1B
|
0 |
1
|
1
|
0 |
0 |
2
|
HRAS, LRRC56
|
2
|
0 |
0 |
0 |
0 |
2
|
KCNJ2
|
0 |
0 |
2
|
0 |
0 |
2
|
LMNA
|
0 |
2
|
0 |
0 |
0 |
2
|
LOC107303340, VHL
|
1
|
1
|
0 |
0 |
0 |
2
|
LOC126861898, MYH7
|
1
|
1
|
0 |
0 |
0 |
2
|
MEN1
|
0 |
1
|
1
|
0 |
0 |
2
|
MYH11, NDE1
|
0 |
0 |
2
|
0 |
0 |
2
|
SDHB
|
2
|
0 |
0 |
0 |
0 |
2
|
TMEM43
|
0 |
0 |
2
|
0 |
0 |
2
|
TSC1
|
0 |
0 |
2
|
0 |
0 |
2
|
ABCA1
|
0 |
1
|
0 |
0 |
0 |
1
|
ACTA2
|
0 |
0 |
1
|
0 |
0 |
1
|
ALK
|
0 |
1
|
0 |
0 |
0 |
1
|
ATP1A2
|
0 |
1
|
0 |
0 |
0 |
1
|
BMPR1A
|
0 |
1
|
0 |
0 |
0 |
1
|
CCDST, FLG
|
1
|
0 |
0 |
0 |
0 |
1
|
CRHR1, KANSL1, MAPT, PLEKHM1, SPPL2C, STH
|
1
|
0 |
0 |
0 |
0 |
1
|
ELN
|
0 |
1
|
0 |
0 |
0 |
1
|
F5
|
1
|
0 |
0 |
0 |
0 |
1
|
FBN1, LOC113939944
|
0 |
0 |
1
|
0 |
0 |
1
|
HFE
|
1
|
0 |
0 |
0 |
0 |
1
|
INSL6, JAK2
|
1
|
0 |
0 |
0 |
0 |
1
|
KCNE2, LOC105372791
|
0 |
0 |
0 |
0 |
1
|
1
|
KIF1A
|
1
|
0 |
0 |
0 |
0 |
1
|
LMNA, LOC126805877
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC107982234, WT1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126806068, RYR2
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126861897, MHRT, MYH7
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC126862482, POLR2A
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC130062899, STK11
|
0 |
0 |
1
|
0 |
0 |
1
|
MED13L
|
1
|
0 |
0 |
0 |
0 |
1
|
MEFV
|
0 |
1
|
0 |
0 |
0 |
1
|
MYL3
|
1
|
0 |
0 |
0 |
0 |
1
|
NEXN
|
0 |
1
|
0 |
0 |
0 |
1
|
OTC
|
1
|
0 |
0 |
0 |
0 |
1
|
POLE
|
0 |
0 |
1
|
0 |
0 |
1
|
PRKAR1A
|
0 |
1
|
0 |
0 |
0 |
1
|
PTCH1
|
0 |
1
|
0 |
0 |
0 |
1
|
SERPINA1
|
1
|
0 |
0 |
0 |
0 |
1
|
SMAD3
|
0 |
1
|
0 |
0 |
0 |
1
|
SMAD4
|
1
|
0 |
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
1
|
0 |
0 |
1
|
TGFB2
|
1
|
0 |
0 |
0 |
0 |
1
|
TOR1A
|
1
|
0 |
0 |
0 |
0 |
1
|
TPM1
|
0 |
0 |
1
|
0 |
0 |
1
|
TUSC3
|
1
|
0 |
0 |
0 |
0 |
1
|
WT1
|
0 |
1
|
0 |
0 |
0 |
1
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
risk factor |
total |
Breast-ovarian cancer, familial, susceptibility to, 2
|
46
|
3
|
1
|
0 |
0 |
50
|
Hypercholesterolemia, familial, 1
|
16
|
26
|
0 |
0 |
0 |
42
|
Rhabdomyosarcoma
|
36
|
6
|
0 |
0 |
0 |
42
|
Breast-ovarian cancer, familial, susceptibility to, 1
|
35
|
4
|
0 |
0 |
0 |
39
|
Familial hypercholesterolemia
|
12
|
11
|
8
|
0 |
0 |
31
|
Familial cancer of breast
|
22
|
6
|
0 |
0 |
0 |
28
|
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
|
27
|
0 |
0 |
0 |
0 |
27
|
Malignant hyperthermia, susceptibility to, 1
|
4
|
5
|
13
|
0 |
0 |
22
|
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to
|
10
|
3
|
1
|
0 |
0 |
14
|
Hypertrophic cardiomyopathy 1
|
5
|
8
|
0 |
0 |
0 |
13
|
Lynch syndrome 4
|
9
|
3
|
1
|
0 |
0 |
13
|
Arrhythmogenic right ventricular dysplasia 9
|
8
|
2
|
2
|
0 |
0 |
12
|
Marfan syndrome
|
2
|
4
|
6
|
0 |
0 |
12
|
Colorectal cancer, hereditary nonpolyposis, type 2
|
7
|
3
|
1
|
0 |
0 |
11
|
Hypertrophic cardiomyopathy 4
|
9
|
2
|
0 |
0 |
0 |
11
|
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
|
2
|
8
|
0 |
0 |
0 |
10
|
Arrhythmogenic right ventricular dysplasia 10
|
2
|
7
|
0 |
0 |
0 |
9
|
Lynch syndrome 5
|
7
|
2
|
0 |
0 |
0 |
9
|
Arrhythmogenic right ventricular dysplasia 8
|
0 |
1
|
7
|
0 |
0 |
8
|
Long QT syndrome 2
|
2
|
3
|
3
|
0 |
0 |
8
|
Tuberous sclerosis 2
|
1
|
2
|
5
|
0 |
0 |
8
|
Ehlers-Danlos syndrome, classic type, 1
|
0 |
0 |
7
|
0 |
0 |
7
|
Long QT syndrome 1
|
3
|
4
|
0 |
0 |
0 |
7
|
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1
|
4
|
1
|
2
|
0 |
0 |
7
|
Pancreatic cancer, susceptibility to, 3; Breast cancer, susceptibility to
|
3
|
3
|
1
|
0 |
0 |
7
|
Brugada syndrome 1; Long QT syndrome 3
|
0 |
4
|
2
|
0 |
0 |
6
|
Catecholaminergic polymorphic ventricular tachycardia 1
|
0 |
0 |
6
|
0 |
0 |
6
|
Aortic aneurysm, familial thoracic 4
|
0 |
0 |
5
|
0 |
0 |
5
|
Arrhythmogenic right ventricular dysplasia 11
|
0 |
1
|
4
|
0 |
0 |
5
|
Breast cancer, susceptibility to; Prostate cancer, susceptibility to
|
1
|
4
|
0 |
0 |
0 |
5
|
Ehlers-Danlos syndrome, type 4
|
0 |
2
|
3
|
0 |
0 |
5
|
Long QT syndrome 3
|
3
|
2
|
0 |
0 |
0 |
5
|
Hypercholesterolemia, autosomal dominant, 3
|
0 |
1
|
3
|
0 |
0 |
4
|
Hypertrophic cardiomyopathy 7
|
2
|
2
|
0 |
0 |
0 |
4
|
Li-Fraumeni syndrome
|
3
|
1
|
0 |
0 |
0 |
4
|
Lynch syndrome 1
|
4
|
0 |
0 |
0 |
0 |
4
|
Multiple endocrine neoplasia, type 2a
|
3
|
1
|
0 |
0 |
0 |
4
|
Aortic aneurysm, familial thoracic 7
|
1
|
0 |
2
|
0 |
0 |
3
|
Dilated cardiomyopathy 1A
|
0 |
3
|
0 |
0 |
0 |
3
|
Dilated cardiomyopathy 1G
|
1
|
2
|
0 |
0 |
0 |
3
|
Episodic ataxia type 2
|
1
|
0 |
2
|
0 |
0 |
3
|
Familial adenomatous polyposis 1
|
2
|
0 |
0 |
0 |
1
|
3
|
Familial juvenile hyperuricemic nephropathy type 1
|
0 |
3
|
0 |
0 |
0 |
3
|
Hyperlipidemia, familial combined, LPL related
|
2
|
1
|
0 |
0 |
0 |
3
|
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
|
0 |
2
|
1
|
0 |
0 |
3
|
Intellectual disability
|
3
|
0 |
0 |
0 |
0 |
3
|
Loeys-Dietz syndrome 2
|
1
|
1
|
1
|
0 |
0 |
3
|
Long QT syndrome 5
|
1
|
1
|
0 |
0 |
1
|
3
|
Maturity-onset diabetes of the young type 3
|
1
|
0 |
2
|
0 |
0 |
3
|
Obesity
|
1
|
2
|
0 |
0 |
0 |
3
|
PTEN hamartoma tumor syndromes
|
2
|
1
|
0 |
0 |
0 |
3
|
Andersen Tawil syndrome
|
0 |
0 |
2
|
0 |
0 |
2
|
Arrhythmogenic right ventricular dysplasia 5
|
0 |
0 |
2
|
0 |
0 |
2
|
Cowden syndrome 1
|
2
|
0 |
0 |
0 |
0 |
2
|
Dilated cardiomyopathy 1D
|
2
|
0 |
0 |
0 |
0 |
2
|
Fabry disease
|
2
|
0 |
0 |
0 |
0 |
2
|
Generalized juvenile polyposis/juvenile polyposis coli
|
1
|
1
|
0 |
0 |
0 |
2
|
Hypercholesterolemia, autosomal dominant, type B
|
1
|
1
|
0 |
0 |
0 |
2
|
Li-Fraumeni syndrome 1
|
1
|
1
|
0 |
0 |
0 |
2
|
Malignant hyperthermia, susceptibility to, 5
|
0 |
0 |
2
|
0 |
0 |
2
|
Multiple endocrine neoplasia, type 1
|
0 |
1
|
1
|
0 |
0 |
2
|
Paragangliomas 3
|
1
|
0 |
1
|
0 |
0 |
2
|
Paragangliomas 4
|
2
|
0 |
0 |
0 |
0 |
2
|
Paragangliomas 5
|
0 |
2
|
0 |
0 |
0 |
2
|
Peutz-Jeghers syndrome
|
0 |
0 |
2
|
0 |
0 |
2
|
Renal cysts and diabetes syndrome
|
0 |
1
|
1
|
0 |
0 |
2
|
Tuberous sclerosis 1
|
0 |
0 |
2
|
0 |
0 |
2
|
Von Hippel-Lindau syndrome
|
1
|
1
|
0 |
0 |
0 |
2
|
Wilms tumor 1
|
0 |
1
|
1
|
0 |
0 |
2
|
Acquired polycythemia vera
|
1
|
0 |
0 |
0 |
0 |
1
|
Alpha-1-antitrypsin deficiency
|
1
|
0 |
0 |
0 |
0 |
1
|
Aneurysm-osteoarthritis syndrome
|
0 |
1
|
0 |
0 |
0 |
1
|
Aortic aneurysm, familial thoracic 6
|
0 |
0 |
1
|
0 |
0 |
1
|
Colorectal cancer susceptibility 12
|
0 |
0 |
1
|
0 |
0 |
1
|
Dilated cardiomyopathy 1CC
|
0 |
1
|
0 |
0 |
0 |
1
|
Early-onset generalized limb-onset dystonia
|
1
|
0 |
0 |
0 |
0 |
1
|
Factor V deficiency
|
1
|
0 |
0 |
0 |
0 |
1
|
Factor XI
|
1
|
0 |
0 |
0 |
0 |
1
|
Familial Mediterranean fever
|
0 |
1
|
0 |
0 |
0 |
1
|
Hemochromatosis type 1
|
1
|
0 |
0 |
0 |
0 |
1
|
Hereditary factor XI deficiency disease
|
1
|
0 |
0 |
0 |
0 |
1
|
Hypertrophic cardiomyopathy 3
|
0 |
0 |
1
|
0 |
0 |
1
|
Hypertrophic cardiomyopathy 8
|
1
|
0 |
0 |
0 |
0 |
1
|
Hypoalphalipoproteinemia, primary, 1
|
0 |
1
|
0 |
0 |
0 |
1
|
Ichthyosis vulgaris
|
1
|
0 |
0 |
0 |
0 |
1
|
Intellectual disability, autosomal dominant 9
|
1
|
0 |
0 |
0 |
0 |
1
|
Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5
|
0 |
0 |
1
|
0 |
0 |
1
|
Loeys-Dietz syndrome 4
|
1
|
0 |
0 |
0 |
0 |
1
|
Long QT syndrome 6
|
0 |
0 |
0 |
0 |
1
|
1
|
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood
|
0 |
1
|
0 |
0 |
0 |
1
|
Multiple endocrine neoplasia, type 2b; Multiple endocrine neoplasia, type 2a
|
0 |
1
|
0 |
0 |
0 |
1
|
Ornithine carbamoyltransferase deficiency
|
1
|
0 |
0 |
0 |
0 |
1
|
Supravalvar aortic stenosis
|
0 |
1
|
0 |
0 |
0 |
1
|
not specified
|
0 |
0 |
0 |
1
|
0 |
1
|
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