ClinVar Miner

Variants from UW Hindbrain Malformation Research Program,University of Washington

Location: United States — 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
281 13 0 0 0 294

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic total
CPLANE1 38 1 39
TMEM67 34 5 39
CC2D2A 34 2 36
AHI1 32 0 32
CEP290 30 0 30
CSPP1 15 0 15
INPP5E 14 0 14
MKS1 11 2 13
RPGRIP1L 11 0 11
ARMC9 10 0 10
KIAA0586 9 0 9
TCTN2 7 0 7
TMEM216 4 1 5
ARL13B 4 0 4
KIF7 4 0 4
OFD1 4 0 4
B9D1 3 0 3
B9D2 3 0 3
C2CD3 3 0 3
ARFGEF1, CSPP1 2 0 2
PIBF1 0 2 2
TMEM237 2 0 2
TRAPPC12 2 0 2
​intergenic 1 0 1
IFT172 1 0 1
TCTN1 1 0 1
TCTN3 1 0 1
TMEM138 1 0 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic total
Joubert syndrome 42 4 46
Joubert syndrome 17 38 1 39
Joubert syndrome 6 34 5 39
Joubert syndrome 9 34 2 36
Joubert syndrome 3 32 0 32
Joubert syndrome 5 30 0 30
Joubert syndrome 21 17 0 17
Joubert syndrome 7 11 0 11
ARMC9-related Joubert syndrome 10 0 10
Joubert syndrome 23 9 0 9
Joubert syndrome 2 4 1 5
Acrocallosal syndrome, Schinzel type 4 0 4
Joubert syndrome 10 4 0 4
Joubert syndrome 8 4 0 4
Joubert syndrome 14 2 0 2
Progressive childhood encephalopathy 2 0 2
Joubert syndrome 13 1 0 1
Joubert syndrome 16 1 0 1
Joubert syndrome 18 1 0 1
Joubert syndrome 4 1 0 1

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