| Von Hippel-Lindau Syndrome |
C0019562 |
VHL
|
Causal
Pathogenic evidence from ClinVar
|
982991, 7553625, 7563486, 7728151, 7759077, 7915601, 7977367, 7987306, 8187067, 8493574, 8592333, 8634692, 8641976, 8707293, 8730290, 8772572, 8825918, 8825919, 8863170, 8956040, 9058738, 9143408, 9156047, 9209471, 9435426, 9447969, 9452032, 9452106, 9663592, 9681856, 9829911, 9829912, 10088816, 10205047, 10326868, 10340905, 10408776, 10458336, 10533030, 10563480, 10567493, 10587522, 10627136, 10635329, 10697963, 10761708, 10766184, 10823831, 10878807, 10900011, 11058902, 11114638, 11171960, 11257211, 11309459, 11331612, 11331613, 11409863, 11483638, 11536052, 11688398, 11709017, 11739384, 11865071, 11921283, 11987242, 12000816, 12056827, 12114475, 12114495, 12202531, 12351569, 12414898, 12415268, 12510195, 12538644, 12603429, 12624160, 12807974, 12844285, 12853836, 14500403, 14722919, 14726398, 14973063, 14987375, 15002726, 15109448, 15177666, 15300849, 15574766, 15611064, 15642680, 15881703, 15932632, 16142346, 16210343, 16261165, 16314641, 16452184, 16488999, 16502427, 16572651, 16775032, 16809612, 1695228 |
ClinVar |