ClinVar Miner

List of variants in gene BLK reported as pathogenic for maturity-onset diabetes of the young

Included ClinVar conditions (40):

Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma
Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13
Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young; Hyperglycemia
Maturity-onset diabetes of the young type 1
Maturity-onset diabetes of the young type 10
Maturity-onset diabetes of the young type 11
Maturity-onset diabetes of the young type 13
Maturity-onset diabetes of the young type 14
Maturity-onset diabetes of the young type 1; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity-onset diabetes of the young type 2
Maturity-onset diabetes of the young type 3
Maturity-onset diabetes of the young type 4
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 6
Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 7
Maturity-onset diabetes of the young type 8
Maturity-onset diabetes of the young type 9
Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2
Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4
Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2
Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2

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:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000008.11:g.11573132C>T	rs61199332	0.06287
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)	rs55758736	0.01485
NM_001715.3(BLK):c.*338T>G	rs1042695	0.00399
NC_000008.11:g.11564613G>T	rs886037621	0.00001

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