NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys)Pathogenic
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant|not provided|Fetal anomalies with a likely genetic cause
★★☆☆2026→ Residue 774
NM_001003800.2(BICD2):c.2081G>A (p.Arg694His)Pathogenic
not provided|Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
★★☆☆2025→ Residue 694
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)Pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures|not provided|Inborn genetic diseases
★★☆☆2025→ Residue 703
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)Pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures|Spinal muscular atrophy|Neuronopathy, distal hereditary motor, autosomal dominant|not provided|Distal myopathy
★★☆☆2024→ Residue 107
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)Pathogenic
Spinal muscular atrophy, lower extremity-predominant, 2, AD|Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures|Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant|not provided|Autosomal dominant hereditary axonal motor and sensory neuropathy
★★☆☆2022→ Residue 694
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)Pathogenic
not provided|14 conditions|Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant|Inborn genetic diseases
★★☆☆2022→ Residue 546
NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser)Likely pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
★★☆☆2019→ Residue 556
NM_001003800.2(BICD2):c.2056A>G (p.Lys686Glu)Likely pathogenic
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
★☆☆☆2026→ Residue 686
NM_001003800.2(BICD2):c.2231C>T (p.Ser744Phe)Pathogenic
not provided
★☆☆☆2025→ Residue 744
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly)Pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures|not provided
★☆☆☆2025→ Residue 774
NM_001003800.2(BICD2):c.1667A>G (p.Tyr556Cys)Pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
★☆☆☆2025→ Residue 556
NM_001003800.2(BICD2):c.570C>A (p.Ser190Arg)Likely pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
★☆☆☆2025→ Residue 190
NM_001003800.2(BICD2):c.1922T>A (p.Leu641Gln)Pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
★☆☆☆2024→ Residue 641
NM_001003800.2(BICD2):c.535C>T (p.Gln179Ter)Likely pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
★☆☆☆2024→ Residue 179
NM_001003800.2(BICD2):c.2100C>A (p.Asn700Lys)Pathogenic
Spinal muscular atrophy with lower extremity predominance
★☆☆☆2024→ Residue 700
NM_001003800.2(BICD2):c.593T>C (p.Leu198Pro)Pathogenic
not provided
★☆☆☆2023→ Residue 198
NM_001003800.2(BICD2):c.2058G>T (p.Lys686Asn)Likely pathogenic
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
★☆☆☆2023→ Residue 686
NM_001003800.2(BICD2):c.342C>G (p.Tyr114Ter)Pathogenic
BICD2-related Autosomal recessive Cohen Like syndrome
★☆☆☆2023→ Residue 114
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal dominant|not provided|Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
★☆☆☆2023→ Residue 189
NM_001003800.2(BICD2):c.2113G>A (p.Glu705Lys)Pathogenic
not provided
★☆☆☆2023→ Residue 705