Total 27 pathogenic variants reported for Johanson-Blizzard syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_174916.3(UBR1):c.2254+2T>C SNV
Germline		 Chr15:43032566 Pathogenic Johanson-Blizzard syndrome No Assertion Criteria Provided
 CA392057269 rs_2141312913

1 SubmittersRCV000004943
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter) SNV
Germline		 Chr15:43048394 Pathogenic Johanson-Blizzard syndrome No Assertion Criteria Provided
 CA117013 rs_119477055

1 SubmittersRCV000004944
NM_174916.3(UBR1):c.2839+5G>A SNV
Germline		 Chr15:43022697 Pathogenic Johanson-Blizzard syndrome No Assertion Criteria Provided
 CA913184860 rs_1596106023

1 SubmittersRCV000004945
NM_174916.3(UBR1):c.1440-1G>A SNV
Germline		 Chr15:43048492 Pathogenic Johanson-Blizzard syndrome No Assertion Criteria Provided
 CA392070824 rs_1596118528

2 SubmittersRCV000024606
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) SNV
Germline		 Chr15:42983940 Pathogenic Johanson-Blizzard syndrome Criteria Provided
Single Submitter
 CA090953 rs_797045112

1 SubmittersRCV000190636
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) SNV
Germline		 Chr15:43007204 Conflicting classifications of pathogenicity Condition: not provided
not specified
Johanson-Blizzard syndrome
UBR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA7518195 rs_142285781

9 SubmittersRCV000224677RCV000504515RCV003137831RCV003937877
NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu) SNV
Germline		 Chr15:43030050 Conflicting classifications of pathogenicity Condition: not provided
Johanson-Blizzard syndrome		 Criteria Provided
Conflicting Classifications
 CA392070953 rs_1131691524

2 SubmittersRCV000494094RCV002063857
NM_174916.3(UBR1):c.1912-6T>G SNV
Germline		 Chr15:43037889 Likely pathogenic Condition: not provided
Johanson-Blizzard syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645369584 rs_1131691523

2 SubmittersRCV000493399RCV002056824
NM_174916.3(UBR1):c.3055C>T (p.Arg1019Ter) SNV
Germline		 Chr15:43015842 Pathogenic Inborn genetic diseases
Johanson-Blizzard syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA269948616 rs_267604210

2 SubmittersRCV001266518RCV004782690
NM_174916.3(UBR1):c.2261G>A (p.Arg754His) SNV
Germline		 Chr15:43030062 Conflicting classifications of pathogenicity Johanson-Blizzard syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA392070998 rs_1567131023

3 SubmittersRCV001330528RCV001859277
NM_174916.3(UBR1):c.1539+2T>G SNV
Unknown		 Chr15:43048390 Likely pathogenic Johanson-Blizzard syndrome Criteria Provided
Single Submitter
 CA392069777 rs_2033511910

1 SubmittersRCV001328772
NM_174916.3(UBR1):c.4054-2A>G SNV
Germline		 Chr15:42983995 Pathogenic Johanson-Blizzard syndrome No Assertion Criteria Provided
 CA392049025 rs_780491123

1 SubmittersRCV001844312
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter) SNV
Germline		 Chr15:42966220 Pathogenic Johanson-Blizzard syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7517857 rs_374049779

2 SubmittersRCV001785111RCV003560847
NM_174916.3(UBR1):c.529-13G>A SNV
Germline		 Chr15:43070938 Pathogenic/Likely pathogenic Johanson-Blizzard syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA617634874 rs_1265375100

3 SubmittersRCV001797014RCV006467970
NM_174916.3(UBR1):c.4895C>T (p.Ala1632Val) SNV
Germline		 Chr15:42952389 Conflicting classifications of pathogenicity Condition: not provided
Johanson-Blizzard syndrome		 Criteria Provided
Conflicting Classifications
 CA7517733 rs_141227308

4 SubmittersRCV001938054RCV005397142
NM_174916.3(UBR1):c.752G>T (p.Cys251Phe) SNV
Germline		 Chr15:43067944 Conflicting classifications of pathogenicity Condition: not provided
Johanson-Blizzard syndrome		 Criteria Provided
Conflicting Classifications
 CA7518934 rs_150617078

4 SubmittersRCV002284949RCV005008519
NM_174916.3(UBR1):c.2379+1G>C SNV
Germline		 Chr15:43029943 Pathogenic Johanson-Blizzard syndrome Criteria Provided
Single Submitter
 CA392070181 rs_2033232817

1 SubmittersRCV002289270
NM_174916.3(UBR1):c.4291T>C (p.Ser1431Pro) SNV
Germline		 Chr15:42976795 Likely pathogenic Condition: not provided
Johanson-Blizzard syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7517927 rs_140972409

2 SubmittersRCV003058460RCV004801273
NM_174916.3(UBR1):c.3775A>G (p.Ile1259Val) SNV
Germline		 Chr15:42990103 Conflicting classifications of pathogenicity Inborn genetic diseases
Johanson-Blizzard syndrome		 Criteria Provided
Conflicting Classifications
 CA392050964 rs_1360665697

2 SubmittersRCV003201114RCV005399292
NM_174916.3(UBR1):c.2840-1G>A SNV
Germline		 Chr15:43021376 Likely pathogenic Johanson-Blizzard syndrome Criteria Provided
Single Submitter
 CA392065081 rs_2542967186

1 SubmittersRCV004018320
NM_174916.3(UBR1):c.3513T>G (p.Tyr1171Ter) SNV
Germline		 Chr15:43002701 Likely pathogenic Johanson-Blizzard syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004796943
NM_174916.3(UBR1):c.1396C>T (p.Gln466Ter) SNV
Germline		 Chr15:43054785 Likely pathogenic Johanson-Blizzard syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005009591
NM_174916.3(UBR1):c.81+1G>C SNV
Germline		 Chr15:43105941 Likely pathogenic Johanson-Blizzard syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006457922