Variants from GENinCode PLC

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)

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
65	27	0	401	167	660

Gene and significance breakdown #

Total genes and gene combinations: 10

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Gene or gene combination	pathogenic	likely pathogenic	likely benign	benign	total
APOB	0	0	231	73	304
LDLR	59	27	78	39	203
PCSK9	0	0	51	25	76
LDLRAP1	0	0	16	7	23
LIPA	4	0	12	7	23
APOB, LOC106560211	0	0	8	12	20
APOB, APOB3'MAR	0	0	3	2	5
LDLRAP1, LOC129929773	0	0	2	2	4
APOE	1	0	0	0	1
LDLR, MIR6886	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 4

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Condition	pathogenic	likely pathogenic	likely benign	benign	total
Familial hypercholesterolemia	60	27	371	151	609
Hypercholesterolemia, familial, 4	0	0	18	9	27
Lysosomal acid lipase deficiency	4	0	12	7	23
APOE-related disorder	1	0	0	0	1

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