ClinVar Miner

List of variants in gene RBPJL reported as benign for type 2 diabetes mellitus

Included ClinVar conditions (37):

Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome
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, noninsulin-dependent, 1
Diabetes mellitus, noninsulin-dependent, association with
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3
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
Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus
Insulin resistance, severe, digenic
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 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; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus
PPARG-related familial partial lipodystrophy; Carotid intimal medial thickness 1; Type 2 diabetes mellitus; Obesity
PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; 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; Type 2 diabetes mellitus
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus
Type 2 diabetes mellitus; Fanconi-Bickel syndrome
Type 2 diabetes mellitus; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency
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; Hypoinsulinemic hypoglycemia and body hemihypertrophy
Type 2 diabetes mellitus; Hypotrichosis 13; Wooly hair, autosomal recessive 3
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2
Type 2 diabetes mellitus; Obesity; Hyperlipidemia; Diabetes mellitus; Hypertensive disorder; Class III obesity
Type 2 diabetes mellitus; Short stature; Cataract; Convex nasal ridge; Mask-like facies; Decreased body weight
Wolfram syndrome 1; Type 2 diabetes mellitus

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000020.11:g.45324436T>G	rs720063	0.44729
NC_000020.11:g.45319581A>C	rs11698812	0.24897
NC_000020.11:g.45279237T>C	rs79312216	0.05422
NM_014276.4(RBPJL):c.132-389T>C	rs2076027	0.04512
NM_014276.4(RBPJL):c.759T>C (p.Ala253=)	rs2076026	0.03721
NC_000020.11:g.45157150A>G	rs143311170	0.00366
NC_000020.11:g.45324681_45324682del	rs33961254
NM_014276.4(RBPJL):c.1333G>A (p.Asp445Asn)	rs1555859311

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