Variants from Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research

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
51	46	55	24	72	247

Gene and significance breakdown #

Total genes and gene combinations: 15

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PKD1	30	36	42	22	66	195
PKD2	13	6	2	2	3	26
PKHD1	3	2	2	0	0	7
DNAJB11	1	2	0	0	0	3
GANAB	0	0	3	0	0	3
LOC129992813, PKD2	1	0	0	0	2	3
TSC2	0	0	3	0	0	3
PRKCSH	0	0	2	0	0	2
ABCG2, DMP1, DSPP, FAM13A, GPRIN3, HERC3, HERC5, HERC6, HSD17B11, HSD17B13, IBSP, KLHL8, MEPE, NAP1L5, NUDT9, PIGY, PKD2, PPM1K, PYURF, SNCA, SPARCL1, SPP1, TIGD2	1	0	0	0	0	1
BRICD5, CASKIN1, DNASE1L2, E4F1, MLST8, PGP, PKD1, RAB26, TRAF7	1	0	0	0	0	1
HNF1B	1	0	0	0	0	1
LOC126859690, PKHD1	0	0	1	0	0	1
LOC130058212, LOC130058213, MIR3180-5, MIR4516, PKD1	1	0	0	0	0	1
MIR1225, PKD1	0	0	0	0	1	1
PKD1, RAB26	1	0	0	0	0	1

Condition and significance breakdown #

Total conditions: 3

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Autosomal dominant polycystic kidney disease	16	20	17	24	72	149
not provided	35	27	38	0	0	100
Polycystic kidney disease, adult type	0	1	0	0	0	1

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