ClinVar Miner

Variants from Reproductive Development, Murdoch Childrens Research Institute

Location: Australia  Primary collection method: research
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 total
19 21 49 0 13 102

Gene and significance breakdown #

Total genes and gene combinations: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ZFPM2 0 0 0 10 10
SART3 0 7 0 0 7
TP63 4 0 1 0 5
GATA4 1 0 0 3 4
LARS2 3 1 0 0 4
REC8 0 2 1 0 3
USP53 0 0 3 0 3
CAMSAP2 0 0 2 0 2
CLPB, LOC126861258 2 0 0 0 2
CROCC 0 0 2 0 2
DNAH1 0 0 2 0 2
EIF2B2 2 0 0 0 2
ESRRG 0 0 2 0 2
FOXK2 0 0 2 0 2
GGPS1 0 0 2 0 2
HERC1 0 0 2 0 2
MRPS7 0 2 0 0 2
NEK8 0 0 2 0 2
NUP107 0 1 1 0 2
PEX6 2 0 0 0 2
SOX9 2 0 0 0 2
STAG3 0 1 1 0 2
AMHR2 0 0 1 0 1
BMPR1B 0 0 1 0 1
CCNT2 0 0 1 0 1
CDC7 0 0 1 0 1
CENPI 0 0 1 0 1
CKB 0 0 1 0 1
CLPP 0 1 0 0 1
DDI1, PDGFD 0 0 1 0 1
ERCC6L2 0 0 1 0 1
ESRRB 0 0 1 0 1
FANCL 0 0 1 0 1
GREM1 0 0 1 0 1
HFM1 0 1 0 0 1
HROB 0 1 0 0 1
LOC126861630, SART3 0 1 0 0 1
LOC130061409, SMARCD2 0 0 1 0 1
MCM8 0 1 0 0 1
MCM9 0 0 1 0 1
MRE11 0 0 1 0 1
MRPL50 0 1 0 0 1
NBN 1 0 0 0 1
NTRK3 0 0 1 0 1
NUP155 0 0 1 0 1
POF1B 0 1 0 0 1
PREPL 1 0 0 0 1
PREPL, SLC3A1 1 0 0 0 1
RAD50 0 0 1 0 1
RAD50, TH2LCRR 0 0 1 0 1
RAD51C 0 0 1 0 1
SOX3 0 0 1 0 1
SSH1 0 0 1 0 1
STAG1 0 0 1 0 1
TFAM 0 0 1 0 1
TOP1MT 0 0 1 0 1
TTC16 0 0 1 0 1
UBR4 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance benign total
Premature ovarian insufficiency 9 3 44 0 56
46,XY sex reversal 3 1 0 0 13 14
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis 0 8 0 0 8
Perrault syndrome 4 3 1 0 0 4
Sensorineural hearing loss disorder; Premature ovarian insufficiency 0 2 2 0 4
46,XX sex reversal 2 2 0 0 0 2
Neutropenia; Premature ovarian insufficiency 2 0 0 0 2
Premature ovarian failure 8 0 1 1 0 2
Sensorineural hearing loss disorder; Cerebellar ataxia; Cognitive impairment; Paroxysmal dystonia; Premature ovarian insufficiency; Peripheral neuropathy 2 0 0 0 2
Ovarian dysgenesis 6 0 1 0 0 1
Perrault syndrome 3 0 1 0 0 1
Premature ovarian failure 10 0 1 0 0 1
Premature ovarian failure 2B 0 1 0 0 1
Premature ovarian failure 9 0 1 0 0 1
See cases 0 1 0 0 1
Sensorineural hearing loss disorder; Myopathy 0 0 1 0 1
Sensorineural hearing loss disorder; Myopathy; Premature ovarian insufficiency 0 0 1 0 1

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