ClinVar Miner

Variants from Laan Lab, Human Genetics Research Group, University of Tartu

Location: Estonia  Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
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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
33 81 0 0 0 114

Gene and significance breakdown #

Total genes and gene combinations: 72
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Gene or gene combination pathogenic likely pathogenic total
NR5A1 2 5 7
BRCA2 4 1 5
PTPN11 3 2 5
DHX37 0 4 4
LZTR1 3 1 4
AR 1 2 3
DMRT1 0 3 3
PROK2 1 2 3
PROKR2 2 1 3
SOS1 0 3 3
BNC1 0 2 2
DYRK1A 0 2 2
FANCM 2 0 2
GATA4 0 2 2
GREB1L, LOC101927521 0 2 2
KCNQ1 1 1 2
LDLR 2 0 2
LOC107982234, WT1 0 2 2
MCMDC2 0 2 2
ROS1 0 2 2
RYR1 2 0 2
TCF12 0 2 2
ABCD1 0 1 1
ACTRT1 0 1 1
ASZ1 0 1 1
ATRX 0 1 1
BRCA1 1 0 1
CHD7 0 1 1
CHEK1 0 1 1
DCAF12L1 0 1 1
ESX1 0 1 1
FBN1 0 1 1
FGF8 0 1 1
GLI2 0 1 1
GLUD2 0 1 1
HESX1 0 1 1
HNF1A 0 1 1
HUWE1 0 1 1
KIF7 0 1 1
KLB 0 1 1
KMT2D 0 1 1
LEO1 0 1 1
LMNA 0 1 1
LOC130055588, SOS2 0 1 1
M1AP 1 0 1
MAP2K1 0 1 1
MRAS 0 1 1
MSH6 0 1 1
MUTYH 1 0 1
MYBPC3 0 1 1
MYH11, NDE1 1 0 1
MYH7 1 0 1
NF1 0 1 1
NSMF 0 1 1
OTX2 0 1 1
PKP2 1 0 1
PMS2 0 1 1
PROP1 1 0 1
RBM5 0 1 1
RET 1 0 1
SCN5A 0 1 1
SEMA3A 0 1 1
SMCHD1 0 1 1
SPRED1 1 0 1
SYCP2 0 1 1
TEX14 1 0 1
TGFBR2 0 1 1
TGIF2LY 0 1 1
TNNI3 0 1 1
TP63 0 1 1
TUBB3 0 1 1
WT1 0 1 1

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic total
Male infertility with azoospermia or oligozoospermia due to single gene mutation 13 51 64
Male infertility with spermatogenesis disorder 2 10 12
Breast-ovarian cancer, familial, susceptibility to, 2 4 1 5
46,XY partial gonadal dysgenesis 2 2 4
Male infertility due to gonadal dysgenesis or sperm disorder 0 3 3
Hypercholesterolemia, familial, 1 2 0 2
Lynch syndrome 1 0 2 2
Malignant hyperthermia, susceptibility to, 1 2 0 2
See cases 0 2 2
Adrenoleukodystrophy 0 1 1
Aortic aneurysm, familial thoracic 4 1 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 1
Dilated cardiomyopathy 1A 0 1 1
Familial adenomatous polyposis 2 1 0 1
Familial medullary thyroid carcinoma 1 0 1
Hypertrophic cardiomyopathy 1 1 0 1
Hypertrophic cardiomyopathy 4 0 1 1
Hypertrophic cardiomyopathy 7 0 1 1
Loeys-Dietz syndrome 2 0 1 1
Long QT syndrome 1 0 1 1
Long QT syndrome 3 0 1 1
Male subfertility 0 1 1
Marfan syndrome 0 1 1
Maturity-onset diabetes of the young type 3 0 1 1
Recurrent spontaneous abortion 1 0 1
Wilms tumor 1 0 1 1
not provided 1 0 1

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