Total 16 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.407A>G (p.His136Arg)	SNV Germline	Chr15:43082648	Pathogenic	Johanson-Blizzard syndrome	No Assertion Criteria Provided	CA117012	rs_119477054	1 SubmittersRCV000004942
NM_174916.3(UBR1):c.2254+2T>C	SNV Germline	Chr15:43032566	Pathogenic	Johanson-Blizzard syndrome	No Assertion Criteria Provided		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		rs_1596106023	1 SubmittersRCV000004945
NM_174916.3(UBR1):c.1440-1G>A	SNV Germline	Chr15:43048492	Pathogenic	Johanson-Blizzard syndrome	No Assertion Criteria Provided		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	8 SubmittersRCV000224677 RCV000504515 RCV003137831 RCV003937877
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 SubmittersRCV000494094 RCV002063857
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 SubmittersRCV000493399 RCV002056824
NM_174916.3(UBR1):c.1539+2T>G	SNV Unknown	Chr15:43048390	Likely pathogenic	Johanson-Blizzard syndrome	Criteria Provided Single Submitter		rs_2033511910	1 SubmittersRCV001328772
NM_174916.3(UBR1):c.4054-2A>G	SNV Germline	Chr15:42983995	Pathogenic	Johanson-Blizzard syndrome	No Assertion Criteria Provided		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		rs_374049779	2 SubmittersRCV001785111 RCV003560847
NM_174916.3(UBR1):c.529-13G>A	SNV Unknown	Chr15:43070938	Pathogenic/Likely pathogenic	Johanson-Blizzard syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1265375100	2 SubmittersRCV001797014
NM_174916.3(UBR1):c.2379+1G>C	SNV Germline	Chr15:43029943	Pathogenic	Johanson-Blizzard syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002289270
NM_174916.3(UBR1):c.2840-1G>A	SNV Germline	Chr15:43021376	Likely pathogenic	Johanson-Blizzard syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004018320