| | CYP21A2, LOC106780800 (G149R +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder | |
| | | Single nucleotide variant (intron variant) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (S114Y +1 more) | Single nucleotide variant (missense variant +1 more) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (E185* +2 more) | Single nucleotide variant (nonsense) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (P356fs +2 more) | Deletion (frameshift variant) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (H268fs +2 more) | Deletion (frameshift variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R103H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CYP21A2, LOC106780800 (R120P +2 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia | |
| | CYP21A2, LOC106780800 (S114A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC106780800, CYP21A2 (W20*) | Single nucleotide variant (nonsense +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (I131T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP21A2, TNXB (S4239P +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Cardiovascular phenotype | |
| | CYP21A2, LOC106780800 (A274G +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP21A2, LOC106780800 (W23*) | Single nucleotide variant (nonsense +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (V263I +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (V115A +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (F342S +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (I78T) | Single nucleotide variant (missense variant +2 more) | Congenital adrenal hyperplasia | |
| | CYP21A2, LOC106780800 (R274L +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder | |
| | LOC106780800, CYP21A2 (R26Q) | Single nucleotide variant (missense variant +1 more) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (H258Q +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP21A2, LOC106780800 (L197fs +2 more) | Deletion (frameshift variant) | not provided | |
| | CYP21A2, LOC106780800 (Y202* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | CYP21A2, LOC106780800 (E132* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CYP21A2, LOC106780800 (R232H +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, TNXB (G4242V +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | CYP21A2, LOC106780800 (L327P +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CYP21A2, LOC106780800 (P201L +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (P252L +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (R120S +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder | |
| | CYP21A2, LOC106780800 (P298L +2 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia | |
| | CYP21A2, LOC106780800 (F270L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CYP21A2, LOC106780800 (P267L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | 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 (R220H +2 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia | |
| | CYP21A2, LOC106780800 (Y105C +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC106780800, CYP21A2 (T171A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | CYP21A2, LOC106780800 (L8M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CYP21A2, LOC106780800 (H176N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | 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, TNXB (G4240A +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Cardiovascular phenotype | |
| | CYP21A2, TNXB (G4243V +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | CYP21A2, LOC106780800 (Q313K +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP21A2, LOC106780800 (P245S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP21A2, LOC106780800 (R310* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | CYP21A2, LOC106780800 (R292P +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, LOC106780800 (H148N +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, TNXB (R4236C +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | CYP21A2, LOC106780800 (R235W +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, LOC106780800 (V171G +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, LOC106780800 +1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | CYP21A2, LOC106780800 (H268R +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, LOC106780800 (D243N +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, LOC106780800 (P32S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP21A2, LOC106780800 (F135V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, LOC106780800 (R120C +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC106780800, CYP21A2 (R103C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | 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) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +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 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP21A2, LOC106780800 (G262R +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, LOC106780800 (Q42*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | CYP21A2, LOC106780800 (R484W +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CYP21A2, LOC106780800 (H39L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP21A2, LOC106780800 +1 more (M1V) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | CYP21A2, LOC106780800 (R312W +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | 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 (P106L +1 more) | Single nucleotide variant (missense variant +1 more) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | CYP21A2, LOC106780800 (V224I +2 more) | Single nucleotide variant (missense variant) | not provided | |