NM_001177431.1:c.1874C>T LRG_372t1:c.1976C>T LRG_372:g.49776C>T NG_017090.1:g.49776C>T
NC_000012.12:g.109788632G>A NC_000012.11:g.110226437G>A LRG_372p1:p.Ser659Leu NP_067638.3:p.Ser659Leu NM_021625.5:c.1976C>T NP_067638.3:p.Ser659Leu NM_001177433.1:c.1655C>T NM_147204.2:c.1796C>T NM_001177428.1:c.1835C>T NP_001170904.1:p.Ser552Leu NP_671737.1:p.Ser599Leu NP_001170899.1:p.Ser612Leu NP_001170902.1:p.Ser625Leu NM_021625.4:c.1976C>T More...
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11/10/2021 |
missense variant |
likely benign|uncertain significance |
Amyotrophy, neurogenic scapuloperoneal, New England type; Autosomal dominant congenital benign spinal muscular atrophy; Avascular necrosis of femoral head, primary, 2; Brachyolmia autosomal dominant; Brachyolmia Type 3; Brachyrachia; Charcot-Marie-Tooth disease axonal type 2C; Charcot-Marie-Tooth disease type 2C; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 2C; Distal spinal muscular atrophy, congenital nonprogressive; Dysmorphism arthrogryposis skeletal maturation advanced; Familial digital arthropathy-brachydactyly; Hereditary motor and sensory neuropathy 2 C; Jequier-Kozlowski syndrome; Metatropic dwarfism; Metatropic dysplasia; Metatropic dysplasia, nonlethal dominant; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; none provided; Parastremmatic dwarfism; PSEUDO-MORQUIO SYNDROME, TYPE 2; Scapuloperoneal Form of Spinal Muscular Atrophy; Scapuloperoneal spinal muscular atrophy; Scapuloperoneal spinal muscular atrophy, autosomal dominant; SED, Maroteaux type; Skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type; Sodium serum level quantitative trait locus 1; SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES; Spondyloepimetaphyseal dysplasia, Maroteaux type; Spondyloepiphyseal dysplasia Maroteaux type; Spondylometaphyseal dysplasia, Kozlowski type |