NM_000349.3(STAR):c.64+1G>TPathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided|STAR-related disorder
β
β
ββ2026
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2026β Residue 188
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2026β Residue 272
NM_000349.3(STAR):c.661_713dup (p.Leu239fs)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency
β
β
ββ2026β Residue 239
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2026β Residue 192
NM_000349.3(STAR):c.178+1G>CLikely pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2026
NM_000349.3(STAR):c.298_299del (p.Gln101fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2025β Residue 101
NM_000349.3(STAR):c.714del (p.Lys238fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2025β Residue 238
NM_000349.3(STAR):c.811del (p.Leu271fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2025β Residue 271
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2025β Residue 260
NM_000349.3(STAR):c.653C>T (p.Ala218Val)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2025β Residue 218
NM_000349.3(STAR):c.306+1G>ALikely pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided|STAR-related disorder
β
β
ββ2025
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency
β
β
ββ2025β Residue 221
NM_000349.3(STAR):c.144G>A (p.Trp48Ter)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency
β
β
ββ2025β Residue 48
NM_000349.3(STAR):c.37T>C (p.Ser13Pro)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency
β
β
ββ2025β Residue 13
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2025β Residue 68
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency|not provided
β
β
ββ2025β Residue 258
NM_000349.3(STAR):c.505G>A (p.Glu169Lys)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency|Syndactyly-telecanthus-anogenital and renal malformations syndrome
β
β
ββ2025β Residue 169
NM_000349.3(STAR):c.5_11del (p.Leu2fs)Pathogenic
Congenital lipoid adrenal hyperplasia due to STAR deficency
β
β
ββ2025β Residue 2
NM_000349.3(STAR):c.707_708delinsCTT (p.Lys236fs)Pathogenic
not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency
β
β
ββ2025β Residue 236