Total 18 pathogenic variants reported for Diabetes mellitus, permanent neonatal 4 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000207.3(INS):c.266G>A (p.Arg89His) SNV
Germline		 Chr11:2159919 Pathogenic/Likely pathogenic Hyperproinsulinemia
Condition: not provided
INS-related disorder
Diabetes mellitus, permanent neonatal 4
Hyperproinsulinemia
Maturity-onset diabetes of the young type 10
Type 1 diabetes mellitus 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123079 rs_28933985

6 SubmittersRCV000014310RCV001091846RCV003407328RCV005042049
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) SNV
Germline		 Chr11:2159898 Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus
Condition: not provided
Diabetes mellitus, permanent neonatal 4
Neonatal diabetes mellitus		 Criteria Provided
Conflicting Classifications
 CA341283 rs_80356671

6 SubmittersRCV000014319RCV000517445RCV001089454RCV002051784
NM_000207.3(INS):c.71C>A (p.Ala24Asp) SNV
Germline		 Chr11:2160901 Pathogenic/Likely risk allele Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341284 rs_80356663

6 SubmittersRCV000014320RCV001089455RCV001818156
NM_000207.3(INS):c.143T>G (p.Phe48Cys) SNV
Germline		 Chr11:2160829 Likely pathogenic/Likely risk allele Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 4
Neonatal diabetes mellitus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341285 rs_80356668

5 SubmittersRCV000014321RCV001089456RCV002051785
NM_000207.3(INS):c.137G>A (p.Arg46Gln) SNV
Germline		 Chr11:2160835 Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10
Condition: not provided
Diabetes mellitus, permanent neonatal 4		 Criteria Provided
Conflicting Classifications
 CA123086 rs_121908260

4 SubmittersRCV000014323RCV001851851RCV003445068
NM_000207.3(INS):c.127T>G (p.Cys43Gly) SNV
Germline		 Chr11:2160845 Pathogenic/Likely risk allele Permanent neonatal diabetes mellitus
Neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 4
Type 2 diabetes mellitus
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214063 rs_80356666

6 SubmittersRCV000020204RCV000030069RCV001089452RCV003445080RCV005251044
NM_000207.3(INS):c.265C>T (p.Arg89Cys) SNV
Germline		 Chr11:2159920 Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 4
Neonatal diabetes mellitus
Condition: not provided
INS-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341644 rs_80356669

9 SubmittersRCV000020207RCV001089453RCV002051790RCV002513137RCV004730851
NM_000207.3(INS):c.*59A>G SNV
Germline		 Chr11:2159793 Likely pathogenic Permanent neonatal diabetes mellitus
Type 1 diabetes mellitus 2
Hyperproinsulinemia
Maturity-onset diabetes of the young type 10
Diabetes mellitus, permanent neonatal 4		 Criteria Provided
Single Submitter
 CA344910 rs_397515519

2 SubmittersRCV000055785RCV005042172
NM_000207.3(INS):c.17G>A (p.Arg6His) SNV
Germline		 Chr11:2160955 Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10
Condition: not provided
INS-related disorder
Diabetes mellitus, permanent neonatal 4
Type 1 diabetes mellitus 2
Hyperproinsulinemia
Maturity-onset diabetes of the young type 10
Diabetes mellitus, permanent neonatal 4
Type 1 diabetes mellitus 2
Maturity-onset diabetes of the young type 10		 Criteria Provided
Conflicting Classifications
 CA145259 rs_121908259

6 SubmittersRCV000059609RCV003556156RCV003415831RCV005042184RCV005364956
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) SNV
Germline		 Chr11:2159877 Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus
Condition: not provided
Diabetes mellitus, permanent neonatal 4		 Criteria Provided
Conflicting Classifications
 CA266175 rs_121908277

4 SubmittersRCV000059614RCV001854250RCV003389039
NM_000207.3(INS):c.188-31G>A SNV
Germline		 Chr11:2160028 Pathogenic/Likely risk allele Permanent neonatal diabetes mellitus
Condition: not provided
Neonatal insulin-dependent diabetes mellitus
Diabetes mellitus, permanent neonatal 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277088 rs_797045623

8 SubmittersRCV000193144RCV000436891RCV002464141RCV003445689
NM_000207.3(INS):c.187+241G>A SNV
Germline		 Chr11:2160544 Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10602684 rs_886041083

3 SubmittersRCV000258877RCV006462288
NM_000207.3(INS):c.*22A>C SNV
Germline		 Chr11:2159830 Conflicting classifications of pathogenicity Hyperproinsulinemia
Maturity-onset diabetes of the young type 10
Type 1 diabetes mellitus 2
Diabetes mellitus, permanent neonatal 4
Condition: not provided
Diabetes mellitus type 1		 Criteria Provided
Conflicting Classifications
 CA5818118 rs_3842753

5 SubmittersRCV001544278RCV001103213RCV001544276RCV001544277RCV001712011RCV003388579
NM_000207.3(INS):c.-152C>G SNV
Germline		 Chr11:2161302 Pathogenic Permanent neonatal diabetes mellitus
not specified
Maturity-onset diabetes of the young type 10
Hyperproinsulinemia
Diabetes mellitus, permanent neonatal 4
Type 1 diabetes mellitus 2
Diabetes mellitus, permanent neonatal 4
Condition: not provided
Diabetes mellitus
Amyotrophic lateral sclerosis, susceptibility to, 24		 Criteria Provided
Multiple Submitters
No Conflicts
 CA216276958 rs_748749585

8 SubmittersRCV000055788RCV000501249RCV002496902RCV003446090RCV003153665RCV004798837RCV005861117
NM_000207.3(INS):c.-152C>A SNV
Germline		 Chr11:2161302 Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus
Condition: not provided
INS-related disorder
Type 1 diabetes mellitus 2
Hyperproinsulinemia
Maturity-onset diabetes of the young type 10
Diabetes mellitus, permanent neonatal 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA216276963 rs_748749585

7 SubmittersRCV000055787RCV001569335RCV003419839RCV005044743
NM_000207.3(INS):c.-153C>G SNV
Germline		 Chr11:2161303 Conflicting classifications of pathogenicity Condition: not provided
not specified
Maturity-onset diabetes of the young type 10
Diabetes mellitus, permanent neonatal 4
Type 1 diabetes mellitus 2
Hyperproinsulinemia
Maturity-onset diabetes of the young type 10		 Criteria Provided
Conflicting Classifications
 CA216276965 rs_915076855

6 SubmittersRCV001769689RCV001821999RCV002290758RCV002506806
NM_000207.3(INS):c.1A>G (p.Met1Val) SNV
Germline		 Chr11:2160971 Pathogenic/Likely pathogenic Condition: not provided
Diabetes mellitus, permanent neonatal 4
Maturity-onset diabetes of the young type 10
Hyperproinsulinemia
Type 1 diabetes mellitus 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5818208 rs_757124361

2 SubmittersRCV001946765RCV002492128
NM_000207.3(INS):c.283T>C (p.Cys95Arg) SNV
Germline		 Chr11:2159902 Likely pathogenic Diabetes mellitus, permanent neonatal 4 Criteria Provided
Single Submitter

1 SubmittersRCV004821396