NM_000207.3(INS):c.-152C>GPathogenic
Permanent neonatal diabetes mellitus|not specified|Diabetes mellitus, permanent neonatal 4;Hyperproinsulinemia;Type 1 diabetes mellitus 2;Maturity-onset diabetes of the young type 10|Diabetes mellitus, permanent neonatal 4|not provided|Diabetes mellitus|Amyotrophic lateral sclerosis, susceptibility to, 24
β
β
ββ2025
NM_000207.3(INS):c.-152C>APathogenic
Permanent neonatal diabetes mellitus|not provided|INS-related disorder|Diabetes mellitus, permanent neonatal 4;Hyperproinsulinemia;Type 1 diabetes mellitus 2;Maturity-onset diabetes of the young type 10
β
β
ββ2025
NM_000207.3(INS):c.163C>T (p.Arg55Cys)Pathogenic
Type 1 diabetes mellitus 2|not provided|Diabetes mellitus type 1|Monogenic diabetes|INS-related disorder
β
β
ββ2025β Residue 55
NM_000207.3(INS):c.127T>G (p.Cys43Gly)Pathogenic
Permanent neonatal diabetes mellitus|Neonatal diabetes mellitus|Diabetes mellitus, permanent neonatal 4|Type 2 diabetes mellitus|not provided
β
β
ββ2024β Residue 43
NM_000207.3(INS):c.125T>C (p.Val42Ala)Pathogenic
Maturity-onset diabetes of the young type 10|not provided
β
β
ββ2024β Residue 42
NM_000207.3(INS):c.266G>A (p.Arg89His)Pathogenic
Hyperproinsulinemia|not provided|INS-related disorder|Diabetes mellitus, permanent neonatal 4;Type 1 diabetes mellitus 2;Hyperproinsulinemia;Maturity-onset diabetes of the young type 10
β
β
ββ2024β Residue 89
NM_000207.3(INS):c.188-31G>APathogenic
Permanent neonatal diabetes mellitus|not provided|Diabetes mellitus, permanent neonatal 4|Neonatal insulin-dependent diabetes mellitus
β
β
ββ2024
NM_000207.3(INS):c.71C>A (p.Ala24Asp)Pathogenic
Permanent neonatal diabetes mellitus|Diabetes mellitus, permanent neonatal 4|not provided
β
β
ββ2023β Residue 24
NM_000207.3(INS):c.265C>T (p.Arg89Cys)Pathogenic
Permanent neonatal diabetes mellitus|Diabetes mellitus, permanent neonatal 4|Neonatal diabetes mellitus|not provided|INS-related disorder
β
β
ββ2023β Residue 89
NM_000207.3(INS):c.1A>G (p.Met1Val)Pathogenic
not provided|Hyperproinsulinemia;Type 1 diabetes mellitus 2;Maturity-onset diabetes of the young type 10;Diabetes mellitus, permanent neonatal 4
β
β
ββ2022β Residue 1
NM_000207.3(INS):c.71C>T (p.Ala24Val)Likely pathogenic
Neonatal diabetes mellitus|not provided
β
β
ββ2019β Residue 24
NM_000207.3(INS):c.143T>G (p.Phe48Cys)Likely pathogenic
Permanent neonatal diabetes mellitus|Diabetes mellitus, permanent neonatal 4|Neonatal diabetes mellitus
β
β
βββ Residue 48
NM_000207.3(INS):c.129C>G (p.Cys43Trp)Likely pathogenic
not provided
β
βββ2024β Residue 43
NM_000207.3(INS):c.*59A>GLikely pathogenic
Permanent neonatal diabetes mellitus|Maturity-onset diabetes of the young type 10;Type 1 diabetes mellitus 2;Hyperproinsulinemia;Diabetes mellitus, permanent neonatal 4
β
βββ2024
NM_000207.3(INS):c.284G>A (p.Cys95Tyr)Likely pathogenic
INS-related disorder
β
βββ2023β Residue 95
NM_000207.3(INS):c.136C>T (p.Arg46Ter)Likely pathogenic
INS-related disorder
β
βββ2023β Residue 46
NM_000207.3(INS):c.103C>G (p.Leu35Val)Likely pathogenic
not provided
β
βββ2021β Residue 35
NM_000207.3(INS):c.95G>T (p.Gly32Val)Likely pathogenic
not provided
β
βββ2021β Residue 32
NM_000207.3(INS):c.289A>C (p.Thr97Pro)Likely pathogenic
not provided
β
βββ2018β Residue 97
NM_000207.3(INS):c.155C>G (p.Pro52Arg)Likely pathogenic
Neonatal insulin-dependent diabetes mellitus
β
ββββ Residue 52