| Xanthomatosis, Cerebrotendinous |
C0238052 |
CYP27A1
|
Causal
Pathogenic evidence from ClinVar
|
2019602, 7915755, 8006521, 8014582, 8514861, 8730343, 8827518, 8931710, 8950197, 9186905, 9392430, 9521761, 9790667, 10406988, 10430841, 10775536, 11181744, 11737215, 11903362, 12000359, 12117727, 12270007, 12555943, 14741198, 14999499, 15795599, 16278884, 16816916, 17030721, 17319284, 17444890, 17697869, 18227423, 19801147, 20402754, 20558929, 21073839, 21345536, 21404287, 21645175, 21764626, 21955034, 21958693, 22197981, 22336472, 22878431, 23212406, 23287330, 23659550, 24357685, 24442603, 24584636, 24627108, 24746394, 25112387, 25447658, 25525159, 25655951, 25941960, 25983621, 26156051, 26206375, 26519892, 26861945, 26906304, 26937392, 27084087, 27225395, 27455001, 27604308, 27678445, 27878435, 28623566, 28894950, 29242796, 29269672, 29321515, 29484516 |
ClinVar |
