Total 21 pathogenic variants reported for Maturity-onset diabetes of the young type 4 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) SNV
Germline		 Chr13:27920364 Conflicting classifications of pathogenicity Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4
not specified
Monogenic diabetes
Maturity-onset diabetes of the young
Condition: not provided
Diabetes mellitus type 2, susceptibility to		 Criteria Provided
Conflicting Classifications
 CA325632 rs_137852783

14 SubmittersRCV000009409RCV000030077RCV000246150RCV000445407RCV000626294RCV000948405RCV001799501
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) SNV
Germline		 Chr13:27924519 Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 4
Monogenic diabetes
Condition: not provided
Type 2 diabetes mellitus
not specified
Maturity-onset diabetes of the young
Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4		 Criteria Provided
Conflicting Classifications
 CA119971 rs_137852787

12 SubmittersRCV000009413RCV000445478RCV000523853RCV001258264RCV001659687RCV002362573RCV002467490
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) SNV
Germline		 Chr13:27924382 Pathogenic Pancreatic agenesis 1
Permanent neonatal diabetes mellitus
Pancreatic agenesis 1
Maturity-onset diabetes of the young type 4		 Criteria Provided
Single Submitter
 CA128952 rs_387906777

3 SubmittersRCV000023034RCV000239365RCV000502995
NM_000209.4(PDX1):c.-18C>T SNV
Germline		 Chr13:27920121 Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 4
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA325742 rs_193922351

4 SubmittersRCV000030073RCV000425057RCV006263637
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) SNV
Germline		 Chr13:27924291 Likely pathogenic Maturity-onset diabetes of the young type 4 Criteria Provided
Single Submitter
 CA214069 rs_193922355

1 SubmittersRCV000030079
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) SNV
Germline		 Chr13:27924420 Likely pathogenic Maturity-onset diabetes of the young type 4 Criteria Provided
Single Submitter
 CA214073 rs_193922356

1 SubmittersRCV000030081
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) SNV
Germline		 Chr13:27924574 Conflicting classifications of pathogenicity not specified
Condition: not provided
Maturity-onset diabetes of the young type 4
Pancreatic hypoplasia
PDX1-related disorder		 Criteria Provided
Conflicting Classifications
 CA214075 rs_193922358

10 SubmittersRCV000455258RCV000840733RCV001249016RCV002464002RCV004549391
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) SNV
Germline		 Chr13:27924622 Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 4
Maturity-onset diabetes of the young type 4
Type 2 diabetes mellitus
Pancreatic agenesis 1		 Criteria Provided
Conflicting Classifications
 CA214077 rs_193922360

2 SubmittersRCV000030085RCV005007895
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) SNV
Germline		 Chr13:27920235 Conflicting classifications of pathogenicity not specified
Condition: not provided
Maturity-onset diabetes of the young type 4
Type 2 diabetes mellitus
Monogenic diabetes
Maturity-onset diabetes of the young		 Criteria Provided
Conflicting Classifications
 CA325750 rs_192902098

9 SubmittersRCV000030086RCV000414508RCV000988971RCV001329696RCV001174416RCV002381271
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) SNV
Germline/somatic		 Chr13:27924565 Conflicting classifications of pathogenicity Condition: not provided
Monogenic diabetes
not specified
Maturity-onset diabetes of the young type 4
Pancreatic hypoplasia
Maturity-onset diabetes of the young		 Criteria Provided
Conflicting Classifications
 CA231372 rs_199644078

13 SubmittersRCV000117899RCV000445403RCV000515153RCV000988972RCV002250564RCV002371951
NM_000209.4(PDX1):c.502A>C (p.Asn168His) SNV
Germline		 Chr13:27924351 Likely pathogenic Pancreatic agenesis 1
Maturity-onset diabetes of the young type 4		 Criteria Provided
Single Submitter
 CA387645461 rs_1555241857

1 SubmittersRCV000501202
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) SNV
Germline		 Chr13:27924669 Conflicting classifications of pathogenicity Condition: not provided
not specified
Type 2 diabetes mellitus
Pancreatic agenesis 1
Maturity-onset diabetes of the young type 4		 Criteria Provided
Conflicting Classifications
 CA247265650 rs_930365498

6 SubmittersRCV000712003RCV001821454RCV002490898
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln) SNV
Germline		 Chr13:27924697 Conflicting classifications of pathogenicity Condition: not provided
not specified
Maturity-onset diabetes of the young type 4
Pancreatic agenesis 1
Type 2 diabetes mellitus		 Criteria Provided
Conflicting Classifications
 CA6927726 rs_754817283

4 SubmittersRCV000827595RCV001664447RCV005392461
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) SNV
Germline		 Chr13:27920349 Conflicting classifications of pathogenicity Condition: not provided
Pancreatic agenesis 1
Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4
Maturity-onset diabetes of the young
PDX1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6927590 rs_564129447

5 SubmittersRCV001347094RCV002499697RCV004036511RCV004548190
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) SNV
Germline		 Chr13:27920235 Conflicting classifications of pathogenicity not specified
Condition: not provided
Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4
Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4
Pancreatic agenesis 1		 Criteria Provided
Conflicting Classifications
 CA6927579 rs_192902098

6 SubmittersRCV001663754RCV002032659RCV002468284RCV005005991
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp) SNV
Germline		 Chr13:27920302 Conflicting classifications of pathogenicity Condition: not provided
Maturity-onset diabetes of the young type 4		 Criteria Provided
Conflicting Classifications
 CA6927586 rs_753249965

3 SubmittersRCV002226082RCV003329123
NM_000209.4(PDX1):c.533A>C (p.Glu178Ala) SNV
Germline		 Chr13:27924382 Likely pathogenic Maturity-onset diabetes of the young type 4 Criteria Provided
Single Submitter

1 SubmittersRCV006249271