| | HNRNPUL2, HNRNPUL2-BSCL2 (R324C) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (V292I) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (D205E) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (P114S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (A88V) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (D732A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (H729P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (N719S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 +1 more (P63L) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (P620L) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (E478K) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (R397Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2-BSCL2, BSCL2 (G247S +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HNRNPUL2, HNRNPUL2-BSCL2 +1 more (E84del) | Microsatellite (non-coding transcript variant +1 more) | HNRNPUL2-related condition | |
| | | Single nucleotide variant (intron variant) | HNRNPUL2-related condition | |
| | | Single nucleotide variant (intron variant) | HNRNPUL2-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | HNRNPUL2-related condition | |
| | HNRNPUL2, HNRNPUL2-BSCL2 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | HNRNPUL2-related condition | |
| | HNRNPUL2, HNRNPUL2-BSCL2 +1 more (P53S) | Single nucleotide variant (non-coding transcript variant +1 more) | HNRNPUL2-related condition | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (V440A) | Single nucleotide variant (non-coding transcript variant +1 more) | HNRNPUL2-related condition | |
| | HNRNPUL2, HNRNPUL2-BSCL2 +1 more | Duplication (non-coding transcript variant +1 more) | HNRNPUL2-related condition | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (A367P +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (Q121H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (F68L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (R215H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (S147F +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (E230fs +2 more) | Microsatellite (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (P432L +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (T384A +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (P85T +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (P430T +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (E387Q +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (L246F +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (E300S +2 more) | Inversion (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Insertion (splice acceptor variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Insertion (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (Y277S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (F245I +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (F307L +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (Y106F +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (H291Y +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (M1V +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (H62Y +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (M259T) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | BSCL2, HNRNPUL2-BSCL2 (D250N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | BSCL2, HNRNPUL2-BSCL2 (Y133* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HNRNPUL2-BSCL2, BSCL2 (A35S) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | BSCL2, HNRNPUL2-BSCL2 (W259* +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | HNRNPUL2, HNRNPUL2-BSCL2 +1 more (E75*) | Single nucleotide variant (non-coding transcript variant +1 more) | HNRNPUL2-related condition | |
| | BSCL2, HNRNPUL2-BSCL2 (Y213H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | BSCL2-related condition +1 more | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (F332C) | Single nucleotide variant (non-coding transcript variant +1 more) | HNRNPUL2-related condition | |
| | BSCL2, HNRNPUL2-BSCL2 (E426Q +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases +1 more | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (V483I) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BSCL2, HNRNPUL2-BSCL2 (L251F +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | BSCL2, HNRNPUL2-BSCL2 (P60S) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BSCL2, HNRNPUL2-BSCL2 (Y228* +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (Y187C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (E113* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (L155P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (Y120fs +1 more) | Deletion (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | BSCL2, HNRNPUL2-BSCL2 (C100Y +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Berardinelli-Seip congenital lipodystrophy | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (G137E) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (C602R) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (D583N) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BSCL2, HNRNPUL2-BSCL2 (S191L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | HNRNPUL2-BSCL2, BSCL2 (E309fs +3 more) | Deletion (non-coding transcript variant +1 more) | See cases | |
| | BSCL2, HNRNPUL2-BSCL2 (P149R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | HNRNPUL2, HNRNPUL2-BSCL2 (E156G) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | BSCL2, HNRNPUL2-BSCL2 (S144P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HNRNPUL2-BSCL2, BSCL2 (I249V +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |