| | LOC105369149, SBF2 +1 more (G1646R +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more (A1615T +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more (P1601L +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more (P1653A +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more (W1721fs +3 more) | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4B2 | |
| | | Single nucleotide variant (intron variant) | SBF2-related disorder | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | SBF2-related disorder | |
| | LOC105369149, SBF2 +1 more (P1549S +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (S1354fs +3 more) | Duplication (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (K1806R +4 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (V1352F +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (T1391I +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (Q1420* +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (P1583A +3 more) | Single nucleotide variant (missense variant) | SBF2-related disorder | |
| | LOC105369149, SBF2 +1 more (S1697L +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SBF2, SBF2-AS1 (C1857Y +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more (D1594E +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more (S1697F +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SBF2, SBF2-AS1 (H1451Y +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 +1 more (G1488E +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (T1688M +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (S1563C +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (A1757D +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (S1405L +2 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (L1364F +2 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (N1680D +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (R1433fs +2 more) | Duplication (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (Y1432* +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (Q1348H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (V1439I +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2-AS1, SBF2 (L1416F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (P1570R +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (P1427A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more | Duplication (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (N1450S +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | | Deletion (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (D1552E +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2-AS1, LOC105369149 +1 more (W1721S +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2-AS1, SBF2 (F1432L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (L1559V +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2-AS1 +1 more (S1717P +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (Q1423E +2 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4 | |
| | SBF2, SBF2-AS1 (S1463A +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 | |
| | LOC105369149, SBF2 +1 more (R1623S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | SBF2, SBF2-AS1 (G1789E +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | LOC105369149, SBF2 +1 more (Y1765S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |