NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome|FOXP3-related disorder
β
β
ββ2025β Residue 408
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome|not provided|Neurodevelopmental disorder
β
β
ββ2025β Residue 337
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln)Pathogenic
not provided|Insulin-dependent diabetes mellitus secretory diarrhea syndrome|FOXP3-related disorder
β
β
ββ2025β Residue 397
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
β
ββ2024β Residue 384
NM_014009.4(FOXP3):c.543-2A>GLikely pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
β
ββ2024
NM_014009.4(FOXP3):c.751_753del (p.Glu251del)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome|not provided
β
β
ββ2024β Residue 251
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome|not provided
β
β
ββ2023β Residue 347
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome|Hydrops fetalis
β
β
ββ2021β Residue 397
NM_014009.4(FOXP3):c.748_750del (p.Lys250del)Pathogenic
not provided|Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
β
ββ2021β Residue 250
NM_014009.4(FOXP3):c.1156C>T (p.Arg386Cys)Likely pathogenic
not provided
β
β
ββ2021β Residue 386
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala)Pathogenic
not provided|Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
β
ββ2020β Residue 339
NM_014009.4(FOXP3):c.711_712del (p.Glu237fs)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
βββ2025β Residue 237
NM_014009.4(FOXP3):c.816+5G>APathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
βββ2025
NM_014009.4(FOXP3):c.816+7G>CPathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
βββ2025
NM_014009.4(FOXP3):c.646_647+2delLikely pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
βββ2025
NM_014009.4(FOXP3):c.227del (p.Leu76fs)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
βββ2025β Residue 76
NM_014009.4(FOXP3):c.766A>G (p.Met256Val)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
βββ2025β Residue 256
NM_014009.4(FOXP3):c.-22-1G>ALikely pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
βββ2025
NM_014009.4(FOXP3):c.906del (p.Asp303fs)Pathogenic
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
β
βββ2024β Residue 303
NM_014009.4(FOXP3):c.116_122dup (p.Gly43fs)Pathogenic
Centronuclear myopathy
β
βββ2024β Residue 43