| | CYP21A2, LOC106780800 (S136C +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (P31S) | Single nucleotide variant (missense variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (L13M) | Single nucleotide variant (missense variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (P35L) | Single nucleotide variant (missense variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (V238E +5 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia | |
| | CYP21A2, LOC106780800 (V238E +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | CYP21A2, LOC106780800 (M240K +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | CYP21A2, LOC106780800 (L138P +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (W175* +2 more) | Single nucleotide variant (nonsense) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (S114F +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | CYP21A2, LOC106780800 (Q10fs +2 more) | Deletion (frameshift variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (splice donor variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (L173fs +2 more) | Deletion (frameshift variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R232C +2 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia +1 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (F270S +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (F172V +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (V170M +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R125C +1 more) | Single nucleotide variant (missense variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R222Q +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (A228P +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R220C +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R325P +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (E249K +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (M136fs +1 more) | Deletion (frameshift variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R205H +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (V224I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP19A1, MIR4713HG +1 more (D381V) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (A213T +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (Y48C) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | CYP21A2, LOC106780800 (R349P +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (G290V +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (E144fs +2 more) | Duplication (frameshift variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (A14S) | Single nucleotide variant (missense variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R222P +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC106780800, CYP21A2 +1 more | Single nucleotide variant | Congenital adrenal hyperplasia | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more | |
| | CYP21A2, LOC106780800 (P133L +2 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | CYP21A2, LOC106780800 (G290S +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800 (A236V +2 more) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (L64F +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (M254V +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related condition +2 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800 (M126T +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (M126R +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (G117S +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (L107V +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (L157V +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (D150E +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (Y145* +2 more) | Single nucleotide variant (nonsense) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (C140Y +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (L137R +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (L137V +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (E132G +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R349fs +2 more) | Duplication (frameshift variant) | not provided | |
| | CYP21A2, LOC106780800 (P348T +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (S334G +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (D322E +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (P298R +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (G296S +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (C289* +2 more) | Single nucleotide variant (nonsense) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | CYP21A2, LOC106780800 (R266G +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (Q255H +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (D243Y +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CYP21A2, LOC106780800 (R235P +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (A151S +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Insertion (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Duplication (intron variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |