Variants from UW Hindbrain Malformation Research Program, University of Washington

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
293	13	0	0	0	306

Gene and significance breakdown #

Total genes and gene combinations: 33

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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	29	0	29
CSPP1	15	0	15
INPP5E	14	0	14
MKS1	10	2	12
RPGRIP1L	11	0	11
ARMC9	10	0	10
KIAA0586	9	0	9
TOGARAM1	8	0	8
TCTN2	7	0	7
TMEM216	4	1	5
ARL13B	4	0	4
OFD1	4	0	4
TMEM218	4	0	4
B9D1	3	0	3
B9D2	3	0	3
C2CD3	3	0	3
KIF7	3	0	3
ARFGEF1, CSPP1	2	0	2
PIBF1	0	2	2
TMEM237	2	0	2
TRAPPC12	2	0	2
intergenic	1	0	1
CEP290, LOC129390514	1	0	1
IFT172	1	0	1
KIF7, LOC126862216	1	0	1
LOC130004408, TCTN3	1	0	1
LOC130061271, MKS1	1	0	1
TCTN1	1	0	1
TMEM138	1	0	1

Condition and significance breakdown #

Total conditions: 21

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Condition	pathogenic	likely pathogenic	total
Familial aplasia of the vermis	53	4	57
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	4	0	4
Joubert syndrome 10	4	0	4
Joubert syndrome 8	4	0	4
Joubert syndrome 14	2	0	2
Meckel syndrome, type 4	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 with renal defect	1	0	1

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