Variants from ClinGen Monogenic Diabetes Variant Curation Expert Panel

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
349	348	332	33	33	1092

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GCK	191	176	82	8	4	461
HNF1A	108	114	145	12	18	397
HNF4A	48	52	94	12	8	211
C12orf43, HNF1A	2	6	12	1	3	24
intergenic	0	0	1	0	0	1

Condition and significance breakdown #

Total conditions: 2

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Monogenic diabetes	344	341	332	33	33	1080
Maturity-onset diabetes of the young type 2	5	7	0	0	0	12

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