NM_000500.9:c.(1-?)_(1488+?)del | United Arab Emirates | | | Likely Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NM_000500.9:c.(1-?)_(1488+?)del | | |
NM_001128590.3:c.203-13C>G | Lebanon; Palestine; Tu... | NC_000006.12:g.32039081C>G | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.1310C>G
; NM_001128590.3:c.203-13C>G; NP_001122062.3:p.? | 6467 | 12155 |
NM_001128590.3:c.242_249delGAGACTAC | Lebanon | NC_000006.12:g.32039133_32039140del | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.1362_1369delGAGACTAC
; NM_001128590.3:c.242_249delGAGACTAC; NP_001122062.3:p.Gly81ValfsTer21 | 387906510 | 12164 |
NM_001128590.3:c.428T>A | Egypt; Lebanon; Tunisi... | NC_000006.12:g.32039426T>A | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.1655T>A; NM_001128590.3:c.428T>A; NP_001122062.3:p.Ile143Asn | 6475 | 12150 |
NM_001128590.3:c.59G>A | Tunisia | NC_000006.12:g.32038481G>A | | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_055451.1:g.5157G>A; NM_001128590.3:c.59G>A; NP_001122062.3:p.Trp20Ter | 72552743 | |
NM_001128590.3:c.620T>A | Lebanon | NC_000006.12:g.32039807T>A | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.2036T>A
; NM_001128590.3:c.620T>A; NP_001122062.3:p.Ile207Asn | 1554299737 | 242761 |
NM_001128590.3:c.623T>A | Lebanon | NC_000006.12:g.32039810T>A | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.2039T>A
; NM_001128590.3:c.623T>A; NP_001122062.3:p.Val208Glu | 12530380 | 12173 |
NM_001128590.3:c.629T>A | Lebanon | NC_000006.12:g.32039816T>A | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.2045T>A; NM_001128590.3:c.629T>A; NP_001122062.3:p.Met210Lys | 6476 | 242688 |
NM_001128590.3:c.754G>T | Lebanon | NC_000006.12:g.32040110G>T | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.2339G>T; NM_001128590.3:c.754G>T; NP_001122062.3:p.Val252Leu | 6471 | 12151 |
NM_001128590.3:c.865C>T | Lebanon; Palestine; Tu... | NC_000006.12:g.32040421C>T | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.2650C>T; NM_001128590.3:c.865C>T; NP_001122062.3:p.Gln289Ter | 7755898 | 12169 |
NM_001128590.3:c.92C>T | Tunisia | NC_000006.12:g.32038514C>T | | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_055451.1:g.5190C>T; NM_001128590.3:c.92C>T; NP_001122062.3:p.Pro31Leu | 9378251 | 12153 |
NM_001128590.3:c.979C>T | Tunisia | NC_000006.12:g.32040535C>T | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.2764C>T; NM_001128590.3:c.979C>T; NP_001122062.3:p.Arg327Trp | 7769409 | 12152 |
NM_032470.3:c.*253G>A | Tunisia | Chr6:32041096 | Pathogenic | Pathogenic | Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency | NG_045215.1:g.3325C>T
; NM_032470.3:c.*253G>A; NP_001122062.3:p.Arg454Trp | 759736443 | |