DYNC1H1 — 5388 ClinVar variants

Pathogenic 36

• p.Arg1623Trp Multiple submitters intellectual disability, autosomal dominant 13
• p.Arg1962Cys Multiple submitters DYNC1H1-related neurodevelopmental disorders
• p.Arg264Leu Multiple submitters spinal muscular atrophy
• p.Arg292Trp Multiple submitters Inborn genetic diseases
• p.Arg3344Gln Multiple submitters intellectual disability, autosomal dominant 13
• p.Arg3344Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3384Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3525Cys Multiple submitters intellectual disability, autosomal dominant 13
• p.Arg598Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly1132Glu Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Phe1093Ser Multiple submitters Inborn genetic diseases
• p.Pro776Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Val612Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.12684+5G>T Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.3016-11T>A Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1090Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1679Trp Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg2091Gln Single submitter
• p.Arg3659fs Single submitter intellectual disability, autosomal dominant 13
• p.Arg569Trp Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asp1062Ala Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asp338His Single submitter
• p.Gln3156Ter Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Glu3345Lys Single submitter Inborn genetic diseases
• p.Glu3450Lys Single submitter
• p.Gly1902Val Single submitter
• p.His1124Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.His1124Tyr Single submitter
• p.Ile969Thr Single submitter
• p.Met3310Val Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Met466Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Pro2020Ser Single submitter
• p.Thr2745Lys Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Val560Met Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg2025Gln No assertion criteria Abnormal cerebral morphology
• p.Trp1261Gly No assertion criteria intellectual disability, autosomal dominant 13

Pathogenic/Likely pathogenic 17

• p.Arg1567Gln Multiple submitters intellectual disability, autosomal dominant 13
• p.Arg1623Gln Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
• p.Arg2332Cys Multiple submitters Seizure
• p.Arg251Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg309His Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3339His Multiple submitters intellectual disability, autosomal dominant 13
• p.Arg3474Trp Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy
• p.Arg3525His Multiple submitters DYNC1H1-related disorder
• p.Arg598Cys Multiple submitters Inborn genetic diseases
• p.Asp338Gly Multiple submitters DYNC1H1-related disorder
• p.Glu580Ala Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Gly2330Glu Multiple submitters Inborn genetic diseases
• p.His306Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Lys3254del Multiple submitters Inborn genetic diseases
• p.Pro1511Leu Multiple submitters intellectual disability, autosomal dominant 13
• p.Ser3672Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg569Pro No assertion criteria lissencephaly spectrum disorders

Likely pathogenic 127

• p.Arg1962His Multiple submitters Inborn genetic diseases
• p.Arg2332His Multiple submitters intellectual disability
• p.Arg2492Ter Multiple submitters intellectual disability, autosomal dominant 13
• p.Arg264Pro Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Arg309Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3728Pro Multiple submitters intellectual disability, autosomal dominant 13
• p.Gln967Arg Multiple submitters intellectual disability, autosomal dominant 13
• p.Gly2598Val Multiple submitters intellectual disability, autosomal dominant 13
• p.Gly3658Glu Multiple submitters intellectual disability
• p.Met2041Thr Multiple submitters intellectual disability, autosomal dominant 13
• c.256+5G>C Single submitter
• c.2868+2_2868+5delinsCCACAAA Single submitter intellectual disability, autosomal dominant 13
• c.3015+17_3015+18delinsCT Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.3016-1G>A Single submitter DYNC1H1-related disorder
• c.3157-2A>T Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• c.3961-2A>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.4396-1G>C Single submitter autism spectrum disorder
• p.Ala2050Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Ala2351Glu Single submitter DYNC1H1-related disorder
• p.Ala3320Val Single submitter intellectual disability, autosomal dominant 13
• p.Ala4519Val Single submitter DYNC1H1-related disorder
• p.Arg1090Gly Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1201Ser Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Arg1567Leu Single submitter intellectual disability, autosomal dominant 13
• p.Arg1567Trp Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1962Ser Single submitter
• p.Arg2091Trp Single submitter
• p.Arg2332Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3007Ter Single submitter
• p.Arg3164Ter Single submitter intellectual disability, autosomal dominant 13
• p.Arg3474dup Single submitter congenital nervous system disorder
• p.Arg3695Trp Single submitter Inborn genetic diseases
• p.Arg3759His Single submitter
• p.Arg399Gly Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Arg451Cys Single submitter
• p.Arg462Pro Single submitter intellectual disability, autosomal dominant 13
• p.Arg598His Single submitter
• p.Arg598Pro Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Arg786Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asp1094Gly Single submitter intellectual disability, autosomal dominant 13
• p.Asp1094Tyr Single submitter
• p.Asp2087Gly Single submitter
• p.Asp338Val Single submitter
• p.Asp3422_Asp3425del Single submitter
• p.Asp941His Single submitter ⚠
• p.Gln1058His Single submitter DYNC1H1-related disorder
• p.Gln1327Pro Single submitter
• p.Gln3427Pro Single submitter intellectual disability, autosomal dominant 13
• p.Gln882Lys Single submitter intellectual disability, autosomal dominant 13
• p.Glu1348Lys Single submitter intellectual disability, autosomal dominant 13
• p.Glu1456Lys Single submitter Inborn genetic diseases
• p.Glu2556fs Single submitter DYNC1H1-related disorder
• p.Glu2665Gly Single submitter intellectual disability, autosomal dominant 13
• p.Glu3228Asp Single submitter
• p.Glu3251Lys Single submitter intellectual disability, autosomal dominant 13
• p.Glu3624fs Single submitter
• p.Glu3785Asp Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Glu580Lys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Glu603Val Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy
• p.Glu666Asp Single submitter
• p.Gly1616Glu Single submitter intellectual disability, autosomal dominant 13
• p.Gly3019Ser Single submitter intellectual disability, autosomal dominant 13
• p.Gly4072Cys Single submitter intellectual disability, autosomal dominant 13
• p.Gly4072Ser Single submitter
• p.Gly599Arg Single submitter
• p.His1124Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.His1412Arg Single submitter
• p.His1412Tyr Single submitter intellectual disability
• p.Ile1501Phe Single submitter
• p.Ile3351Phe Single submitter Inborn genetic diseases
• p.Ile609Val Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1304Pro Single submitter DYNC1H1-related disorder
• p.Leu1450Pro Single submitter Inborn genetic diseases
• p.Leu196Trp Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu2090Phe Single submitter Inborn genetic diseases
• p.Leu2315Val Single submitter intellectual disability, autosomal dominant 13
• p.Leu2821Arg Single submitter
• p.Leu3264Met Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu3387Pro Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu3478Phe Single submitter
• p.Leu568Ile Single submitter
• p.Lys1581Glu Single submitter
• p.Lys1917Glu Single submitter intellectual disability, autosomal dominant 13
• p.Lys2261Arg Single submitter intellectual disability, autosomal dominant 13
• p.Lys3241Glu Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Lys447Glu Single submitter DYNC1H1-related disorder ⚠
• p.Met1507Thr Single submitter
• p.Met3405Leu Single submitter
• p.Met581Leu Single submitter
• p.Phe469Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Phe623Leu Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Pro1356Leu Single submitter intellectual disability, autosomal dominant 13
• p.Pro3391Leu Single submitter intellectual disability, autosomal dominant 13
• p.Pro3966Arg Single submitter
• p.Pro776delinsArgVal Single submitter intellectual disability, autosomal dominant 13
• p.Ser2290Arg Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Ser2384fs Single submitter intellectual disability, autosomal dominant 13
• p.Ser315Asn Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ser3493Ile Single submitter Neurodevelopmental delay
• p.Ser3810del Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Thr139fs Single submitter
• p.Thr1882Asn Single submitter Inborn genetic diseases
• p.Thr2355Ile Single submitter
• p.Trp1054Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Trp1351Ter Single submitter intellectual disability, autosomal dominant 13
• p.Trp673Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Tyr3183fs Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Tyr3451Cys Single submitter intellectual disability, autosomal dominant 13
• p.Tyr4610fs Single submitter
• p.Tyr970Cys Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Val1116Ala Single submitter Lower limb muscle weakness
• p.Val2164Met Single submitter
• p.Val2291Gly Single submitter intellectual disability, autosomal dominant 13
• p.Val3472Gly Single submitter
• p.Val395fs Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Val593Phe Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asn199Thr No assertion criteria autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Asp1062Gly No assertion criteria Charcot-Marie-Tooth disease axonal type 2O
• p.Glu3771Lys No assertion criteria lissencephaly spectrum disorders
• p.Ile601Asn No assertion criteria Global developmental delay
• p.Leu2605del No assertion criteria lissencephaly spectrum disorders
• p.Leu774Pro No assertion criteria lissencephaly spectrum disorders
• p.Lys305Asn No assertion criteria lissencephaly spectrum disorders
• p.Lys3336Met No assertion criteria intellectual disability, autosomal dominant 13
• p.Trp2275Ter No assertion criteria DYNC1H1-related disorder
• p.Val2006fs No assertion criteria DYNC1H1-related disorder
• p.Val668Asp No assertion criteria lissencephaly spectrum disorders

Conflicting classifications of pathogenicity 391

Showing the top 300 by review status; the full set is in the sitemap.

• c.10754+11G>A Single submitter autosomal dominant cerebellar ataxia
• c.11056-10A>G Single submitter autosomal dominant cerebellar ataxia
• c.11460+4G>A Single submitter Inborn genetic diseases
• c.11941+2T>A Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• c.11942-20_11947dup Single submitter Inborn genetic diseases
• c.12102+6G>A Single submitter Inborn genetic diseases
• c.12215-4C>T Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.12514-5A>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.13515+8C>T Single submitter autosomal dominant cerebellar ataxia
• c.13516-5C>T Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.2538+8C>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.257-6T>A Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.2719-15T>C Single submitter autosomal dominant cerebellar ataxia
• c.2869-3C>T Single submitter Inborn genetic diseases
• c.3015+3A>G Single submitter Inborn genetic diseases
• c.3156+5G>A Single submitter Inborn genetic diseases
• c.3334-4T>C Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.4075-5G>A Single submitter Inborn genetic diseases
• c.4542+6G>A Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.4543-5A>C Single submitter Inborn genetic diseases
• c.5049+15G>A Single submitter autosomal dominant cerebellar ataxia
• c.5049+8T>C Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.5050-3C>T Single submitter Inborn genetic diseases
• c.5433+6T>C Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.5818-4C>T Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.7014+11T>A Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.8177+12C>T Single submitter autosomal dominant cerebellar ataxia
• c.8177+6A>G Single submitter Inborn genetic diseases
• c.8178-12A>T Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.8343+4C>T Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.8343+5G>A Single submitter distal myopathy
• c.8637+9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.8771+6C>A Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.9263+3A>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.9264-8T>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.9469-6T>C Single submitter Inborn genetic diseases
• c.962-4A>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.9642+4C>T Single submitter intellectual disability, autosomal dominant 13
• c.-3A>G Single submitter Inborn genetic diseases
• c.*194C>T Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.50AALE[1] Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Ala1081Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ala1765Thr Single submitter Inborn genetic diseases
• p.Ala1995= Single submitter autosomal dominant cerebellar ataxia
• p.Ala2380Thr Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Ala2408= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ala2409Thr Single submitter Inborn genetic diseases ⚠
• p.Ala2436= Single submitter autosomal dominant cerebellar ataxia
• p.Ala2470Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ala2474Thr Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Ala2474Val Single submitter DYNC1H1-related neurodevelopmental disorders ⚠
• p.Ala2529Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ala2742Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ala2826= Single submitter Inborn genetic diseases
• p.Ala3037Ser Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ala3320= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ala3362Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ala3423Thr Single submitter Inborn genetic diseases
• p.Ala3452Thr Single submitter intellectual disability, autosomal dominant 13
• p.Ala3460= Single submitter
• p.Ala3556Pro Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ala3932Val Single submitter Inborn genetic diseases ⚠
• p.Ala3953Val Single submitter Inborn genetic diseases ⚠
• p.Ala4087Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ala4197Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ala4358Thr Single submitter Inborn genetic diseases ⚠
• p.Ala4384= Single submitter Inborn genetic diseases
• p.Ala4384Val Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Ala4421Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ala4471= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ala4551Thr Single submitter Inborn genetic diseases ⚠
• p.Ala4551Val Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Ala4584Thr Single submitter Inborn genetic diseases ⚠
• p.Ala4641Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ala54Val Single submitter Inborn genetic diseases ⚠
• p.Ala763Val Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Ala814Gly Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ala821Val Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Arg1025Trp Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1272Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg136Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Arg1411Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Arg1628= Single submitter intellectual disability, autosomal dominant 13
• p.Arg1804Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1887Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg2046= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg2046Trp Single submitter intellectual disability, autosomal dominant 13
• p.Arg2113= Single submitter autosomal dominant cerebellar ataxia
• p.Arg2235His Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg223Cys Single submitter Inborn genetic diseases ⚠
• p.Arg2358Cys Single submitter Inborn genetic diseases ⚠
• p.Arg2383His Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Arg2397Gln Single submitter Inborn genetic diseases ⚠
• p.Arg2398Cys Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Arg2398His Single submitter Inborn genetic diseases ⚠
• p.Arg2451His Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Arg251Cys Single submitter DYNC1H1-related disorder
• p.Arg251Gly Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg251His Single submitter Charcot-Marie-Tooth disease
• p.Arg264Gln Single submitter DYNC1H1-related neurological disorders ⚠
• p.Arg2726= Single submitter Inborn genetic diseases
• p.Arg2797His Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Arg2844His Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg2921Lys Single submitter Inborn genetic diseases
• p.Arg2927His Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Arg2982His Single submitter intellectual disability, autosomal dominant 13
• p.Arg3007Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3160Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3413Cys Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Arg3413His Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Arg3525= Single submitter autosomal dominant cerebellar ataxia
• p.Arg3611= Single submitter autosomal dominant cerebellar ataxia
• p.Arg3611Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg368Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3741His Single submitter intellectual disability, autosomal dominant 13
• p.Arg386= Single submitter autosomal dominant cerebellar ataxia
• p.Arg3989His Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Arg4140His Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg4213= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg4263His Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg4301= Single submitter Inborn genetic diseases
• p.Arg4378Trp Single submitter Inborn genetic diseases
• p.Arg440= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg4428Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg4449His Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg4462Gln Single submitter Inborn genetic diseases ⚠
• p.Arg4591Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg751Gln Single submitter
• p.Arg759Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg786His Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg790Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Arg798Gln Single submitter Inborn genetic diseases ⚠
• p.Asn1495Ser Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Asn2329Ser Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asn2468Ile Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asn3431Ser Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Asn3584= Single submitter autosomal dominant cerebellar ataxia
• p.Asn3584Ser Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asn3631= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asn4174Ser Single submitter Inborn genetic diseases ⚠
• p.Asn4266Ser Single submitter Inborn genetic diseases ⚠
• p.Asn4386Ser Single submitter Inborn genetic diseases ⚠
• p.Asn4573= Single submitter autosomal dominant cerebellar ataxia
• p.Asn4579Ser Single submitter Inborn genetic diseases ⚠
• p.Asp1028Glu Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asp1590His Single submitter Inborn genetic diseases ⚠
• p.Asp1958Gly Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Asp1991Asn Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Asp2077Asn Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Asp234Glu Single submitter Charcot-Marie-Tooth disease ⚠
• p.Asp4026Asn Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Asp4279Asn Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Asp4289= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asp4354Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asp4371Asn Single submitter Inborn genetic diseases ⚠
• p.Asp4426= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asp4433Asn Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Asp4623Asn Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Asp621Asn Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Cys2359= Single submitter autosomal dominant cerebellar ataxia
• p.Cys2639= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Cys3325= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Cys792= Single submitter autosomal dominant cerebellar ataxia
• p.Cys792Gly Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Gln1049Arg Single submitter DYNC1H1-related neurodevelopmental disorders
• p.Gln1235Arg Single submitter Inborn genetic diseases
• p.Gln1860Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gln2834= Single submitter Inborn genetic diseases
• p.Gln3135Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gln31Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gln3925Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gln4117Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gln493Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Glu1011= Single submitter autosomal dominant cerebellar ataxia
• p.Glu1617Asp Single submitter Inborn genetic diseases ⚠
• p.Glu1809= Single submitter autosomal dominant cerebellar ataxia
• p.Glu2180Ala Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Glu2294Lys Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Glu2484Ter Single submitter Inborn genetic diseases ⚠
• p.Glu2513Asp Single submitter DYNC1H1-related disorder ⚠
• p.Glu2640Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Glu2814Asp Single submitter Inborn genetic diseases ⚠
• p.Glu3048Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Glu3108= Single submitter autosomal dominant cerebellar ataxia
• p.Glu3469Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Glu4015Asp Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Glu4503Asp Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Glu4625Lys Single submitter Inborn genetic diseases ⚠
• p.Glu4637Lys Single submitter Inborn genetic diseases
• p.Glu721Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Glu793Lys Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gly2647fs Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gly3023= Single submitter Inborn genetic diseases
• p.Gly3166Ser Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gly3630Ser Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gly3657Ala Single submitter Inborn genetic diseases
• p.Gly3658fs Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Gly3848Asp Single submitter autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures ⚠
• p.Gly3919Arg Single submitter DYNC1H1-related disorder ⚠
• p.Gly3958Val Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Gly4200= Single submitter fetal akinesia deformation sequence 1
• p.Gly4229= Single submitter intellectual disability, autosomal dominant 13
• p.Gly4253= Single submitter autosomal dominant cerebellar ataxia
• p.Gly4254Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Gly4290Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Gly4290Glu Single submitter Inborn genetic diseases
• p.Gly4472Ser Single submitter Inborn genetic diseases ⚠
• p.Gly819= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Gly89Ser Single submitter Inborn genetic diseases ⚠
• p.His1653= Single submitter autosomal dominant cerebellar ataxia
• p.His33Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.His3907Gln Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.His4389Arg Single submitter Inborn genetic diseases ⚠
• p.His75Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.His871Arg Single submitter Inborn genetic diseases ⚠
• p.His891Arg Single submitter Inborn genetic diseases ⚠
• p.Ile105Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ile1282Val Single submitter Charcot-Marie-Tooth disease ⚠
• p.Ile1664Thr Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Ile1692Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ile1733Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ile1739= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ile2759Val Single submitter intellectual disability, autosomal dominant 13 ⚠
• p.Ile2806Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ile2993Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ile3121Met Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ile374Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ile3789Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Ile3835Val Single submitter Inborn genetic diseases ⚠
• p.Ile4071= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ile4084Val Single submitter Charcot-Marie-Tooth disease ⚠
• p.Ile4619Val Single submitter Inborn genetic diseases ⚠
• p.Ile520= Single submitter autosomal dominant cerebellar ataxia
• p.Ile609Met Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ile609Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Leu1533Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Leu1808Ile Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Leu193= Single submitter autosomal dominant cerebellar ataxia
• p.Leu1968Phe Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu2237= Single submitter autosomal dominant cerebellar ataxia
• p.Leu2661Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Leu3177= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu3479Pro Single submitter DYNC1H1-related disorder ⚠
• p.Leu3508Ile Single submitter Inborn genetic diseases
• p.Leu3536= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu3580Val Single submitter Inborn genetic diseases ⚠
• p.Leu3753= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu3824= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu3840= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu890= Single submitter autosomal dominant cerebellar ataxia
• p.Lys112Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Lys1707Asn Single submitter Inborn genetic diseases ⚠
• p.Lys1992= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Lys2401Asn Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Lys305= Single submitter intellectual disability, autosomal dominant 13
• p.Lys3052Arg Single submitter autosomal dominant cerebellar ataxia ⚠
• p.Lys3266Met Single submitter Inborn genetic diseases
• p.Lys3394= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Lys3491Asn Single submitter DYNC1H1-related disorder ⚠
• p.Lys3581Asn Single submitter Inborn genetic diseases
• p.Lys4422Thr Single submitter Inborn genetic diseases ⚠
• p.Lys4443Gln Single submitter Inborn genetic diseases
• p.Lys4594= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Lys4601Glu Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Lys67Arg Single submitter Inborn genetic diseases ⚠
• p.Lys956Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Met1063Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Met1769Val Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Met2202Val Single submitter Inborn genetic diseases ⚠
• p.Phe1018Ser Single submitter intellectual disability, autosomal dominant 13
• p.Phe232Leu Single submitter Inborn genetic diseases ⚠
• p.Phe2776Ile Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Phe277Val Single submitter Distal lower limb muscle weakness ⚠
• p.Phe3629= Single submitter Inborn genetic diseases
• p.Phe4147= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Phe420Leu Single submitter Inborn genetic diseases
• p.Phe4410= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Pro1030Ser Single submitter Inborn genetic diseases
• p.Pro130= Single submitter autosomal dominant cerebellar ataxia
• p.Pro1350Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Pro1802Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Pro1996Arg Single submitter Inborn genetic diseases ⚠
• p.Pro2010= Single submitter Charcot-Marie-Tooth disease
• p.Pro2010Leu Single submitter Inborn genetic diseases
• p.Pro208Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Pro2477= Single submitter autosomal dominant cerebellar ataxia
• p.Pro2480Ala Single submitter Inborn genetic diseases
• p.Pro2547Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Pro2628= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Pro295Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Pro3070= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Pro3803Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Pro3803Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Pro3971= Single submitter autosomal dominant cerebellar ataxia
• p.Pro4024Leu Single submitter Charcot-Marie-Tooth disease axonal type 2O ⚠
• p.Pro4150= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Pro4151= Single submitter autosomal dominant cerebellar ataxia
• p.Pro4235= Single submitter Inborn genetic diseases
• p.Pro4470Ser Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ser1122Phe Single submitter intellectual disability, autosomal dominant 13

Benign 195

• c.10079+93C>G Multiple submitters
• c.10413+93G>A Multiple submitters
• c.10414-160A>G Multiple submitters
• c.10414-69G>T Multiple submitters
• c.11691-4G>T Multiple submitters Inborn genetic diseases
• c.11865+36G>C Multiple submitters
• c.11941+55G>C Multiple submitters
• c.12513+155A>G Multiple submitters
• c.12514-259G>C Multiple submitters
• c.12514-9C>A Multiple submitters autosomal dominant cerebellar ataxia
• c.12684+14A>G Multiple submitters Charcot-Marie-Tooth disease
• c.12684+46A>G Multiple submitters
• c.12902+35G>A Multiple submitters
• c.12902+46G>A Multiple submitters Charcot-Marie-Tooth disease
• c.13007-172A>G Multiple submitters
• c.13007-174A>G Multiple submitters
• c.13007-178G>A Multiple submitters
• c.13007-194G>A Multiple submitters
• c.13218+70T>G Multiple submitters
• c.13219-140G>A Multiple submitters
• c.13372+4C>T Multiple submitters autosomal dominant cerebellar ataxia
• c.13372+9G>A Multiple submitters autosomal dominant cerebellar ataxia
• c.13373-64G>A Multiple submitters
• c.13515+18G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.1461+74G>T Multiple submitters
• c.1461+77G>T Multiple submitters
• c.1461+80G>T Multiple submitters
• c.1462-41G>A Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• c.2718+146A>G Multiple submitters
• c.2719-107C>A Multiple submitters
• c.2868+37G>C Multiple submitters
• c.2869-34A>T Multiple submitters
• c.2869-47T>A Multiple submitters
• c.2869-47T>C Multiple submitters
• c.3015+18C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.3015+42C>T Multiple submitters
• c.3157-11T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.3333+23A>G Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• c.345-49T>C Multiple submitters
• c.3565-108T>C Multiple submitters
• c.3805-148A>G Multiple submitters
• c.3805-73C>T Multiple submitters
• c.3960+16G>A Multiple submitters Charcot-Marie-Tooth disease
• c.4074+29G>A Multiple submitters
• c.4185+20C>T Multiple submitters Charcot-Marie-Tooth disease
• c.4396-25A>G Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• c.4543-158G>A Multiple submitters
• c.4884-93G>C Multiple submitters
• c.5239-12T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.5433+17dup Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.5717-96T>C Multiple submitters
• c.5977+77G>A Multiple submitters
• c.6221+13G>T Multiple submitters autosomal dominant cerebellar ataxia
• c.6618+72G>A Multiple submitters
• c.774+89T>C Multiple submitters
• c.8344-30G>A Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• c.8886+13G>A Multiple submitters autosomal dominant cerebellar ataxia
• c.9468+108T>C Multiple submitters
• c.9469-20A>T Multiple submitters Charcot-Marie-Tooth disease
• c.962-15dup Multiple submitters Charcot-Marie-Tooth disease
• c.9762+77C>A Multiple submitters
• c.9884-99A>G Multiple submitters
• c.-53G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.-5A>G Multiple submitters autosomal dominant cerebellar ataxia
• c.*190A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala1303= Multiple submitters autosomal dominant cerebellar ataxia
• p.Ala837= Multiple submitters autosomal dominant cerebellar ataxia
• p.Asn3650= Multiple submitters autosomal dominant cerebellar ataxia
• p.Gln1200= Multiple submitters autosomal dominant cerebellar ataxia
• p.Gln3258= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu2544= Multiple submitters autosomal dominant cerebellar ataxia
• p.Glu80Gly Multiple submitters Inborn genetic diseases
• p.Gly4053= Multiple submitters Inborn genetic diseases
• p.His4029Gln Multiple submitters autosomal dominant cerebellar ataxia
• p.Ile2483= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu16= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu2508= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu2976= Multiple submitters autosomal dominant cerebellar ataxia
• p.Pro208= Multiple submitters autosomal dominant cerebellar ataxia
• p.Pro3922Leu Multiple submitters autosomal dominant cerebellar ataxia
• p.Ser875= Multiple submitters autosomal dominant cerebellar ataxia
• p.Thr4360= Multiple submitters autosomal dominant cerebellar ataxia
• c.10080-146del Single submitter
• c.10080-170C>T Single submitter
• c.10754+254G>A Single submitter
• c.10909-903C>T Single submitter
• c.11055+22dup Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.11207-75del Single submitter
• c.11460+18_11460+57del Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.11461-39G>A Single submitter
• c.11595+31G>C Single submitter
• c.11595+32G>C Single submitter
• c.11595+3A>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.11596-27C>G Single submitter
• c.11690+100_11690+111del Single submitter
• c.11690+239A>G Single submitter
• c.11691-35GA[2] Single submitter
• c.11942-33C>T Single submitter
• c.12102+21G>A Single submitter
• c.12215-35G>A Single submitter
• c.12513+32C>G Single submitter
• c.12684+35G>C Single submitter
• c.12685-3del Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.12902+40C>T Single submitter
• c.13006+276C>G Single submitter
• c.13006+51_13006+78del Single submitter
• c.13007-181_13007-180insAT Single submitter
• c.13007-195_13007-194insAT Single submitter
• c.13007-195_13007-194insATGT Single submitter
• c.13007-196GT[9] Single submitter
• c.13007-229TA[7] Single submitter
• c.13007-266AC[8] Single submitter
• c.13219-209C>T Single submitter
• c.13372+165A>G Single submitter
• c.13373-273G>C Single submitter
• c.13373-331A>C Single submitter
• c.13515+17C>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.13516-26C>A Single submitter
• c.13685-81_13685-36dup Single submitter
• c.13813-104C>T Single submitter
• c.1461+321G>C Single submitter
• c.1462-323G>A Single submitter
• c.2538+230A>G Single submitter
• c.2538+303A>G Single submitter
• c.2718+243T>C Single submitter
• c.2869-248A>G Single submitter
• c.3015+283T>C Single submitter
• c.3016-142C>T Single submitter
• c.3157-33A>G Single submitter
• c.3157-42T>C Single submitter
• c.344+171C>T Single submitter
• c.3564+327del Single submitter
• c.3565-12dup Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.3565-322C>A Single submitter
• c.3804+20del Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.3804+22C>T Single submitter
• c.3804+23G>A Single submitter
• c.4074+192dup Single submitter
• c.4075-276G>A Single submitter
• c.4075-39G>A Single submitter
• c.4542+232A>G Single submitter
• c.4883+315del Single submitter
• c.4883+315dup Single submitter
• c.4884-272AAAT[5] Single submitter
• c.4884-280C>T Single submitter
• c.5238+28C>T Single submitter
• c.5716+294A>T Single submitter
• c.5717-29C>T Single submitter
• c.5717-8T>G Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.5818-17C>A Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.5818-224C>T Single submitter
• c.5818-229G>C Single submitter
• c.5978-236C>G Single submitter
• c.5978-324del Single submitter
• c.6405+123A>G Single submitter
• c.6619-168G>A Single submitter
• c.6858-15dup Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.774+21G>A Single submitter
• c.775-27C>T Single submitter
• c.8177+319_8177+320dup Single submitter
• c.8177+41_8177+44dup Single submitter
• c.8177+47A>C Single submitter
• c.8178-223T>C Single submitter
• c.8343+102del Single submitter
• c.8344-188G>A Single submitter
• c.8508-230del Single submitter
• c.8508-230dup Single submitter
• c.8508-246C>A Single submitter
• c.8508-5dup Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.8637+28A>G Single submitter
• c.8637+58T>C Single submitter
• c.8638-255A>G Single submitter
• c.9048+31G>A Single submitter
• c.9263+38C>T Single submitter
• c.9264-29C>G Single submitter
• c.9468+43C>T Single submitter
• c.9469-267G>A Single submitter
• c.9469-8del Single submitter Charcot-Marie-Tooth disease axonal type 2O
• c.962-168G>A Single submitter
• c.9763-104GT[15] Single submitter
• c.9763-104GT[16] Single submitter
• c.9763-104GT[9] Single submitter
• c.-47T>A Single submitter
• p.Arg2488Cys Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Arg979= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asn3584Asp Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Asp90= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Gly2543Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.His4119Asn Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ile2108= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Ile4030Thr Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu2048= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Leu2220= Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Lys1099Arg Single submitter Charcot-Marie-Tooth disease axonal type 2O
• p.Thr1788= Single submitter Charcot-Marie-Tooth disease axonal type 2O

Benign/Likely benign 116

• c.10414-13G>A Multiple submitters Charcot-Marie-Tooth disease
• c.11460+12G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11595+12T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11596-7G>A Multiple submitters autosomal dominant cerebellar ataxia
• c.12102+20C>T Multiple submitters Charcot-Marie-Tooth disease
• c.12513+10T>G Multiple submitters Charcot-Marie-Tooth disease
• c.12684+19A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.12685-3C>T Multiple submitters autosomal dominant cerebellar ataxia
• c.12903-14C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13219-9C>T Multiple submitters autosomal dominant cerebellar ataxia
• c.13516-16C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.2538+10C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.256+4C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.257-20A>G Multiple submitters Charcot-Marie-Tooth disease
• c.2719-6C>T Multiple submitters autosomal dominant cerebellar ataxia
• c.2719-9_2719-7del Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.3015+18C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.345-10T>G Multiple submitters autosomal dominant cerebellar ataxia
• c.3804+9C>T Multiple submitters Charcot-Marie-Tooth disease
• c.3961-14A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.4075-6C>T Multiple submitters Inborn genetic diseases
• c.4395+2C>T Multiple submitters autosomal dominant cerebellar ataxia
• c.5050-15T>C Multiple submitters autosomal dominant cerebellar ataxia
• c.5239-13C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6222-20C>A Multiple submitters Charcot-Marie-Tooth disease
• c.6222-9_6222-7del Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8637+12G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.9643-6C>T Multiple submitters Inborn genetic diseases
• c.9762+9T>G Multiple submitters autosomal dominant cerebellar ataxia
• c.*232C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala1381= Multiple submitters Inborn genetic diseases
• p.Ala1444Val Multiple submitters autosomal dominant cerebellar ataxia
• p.Ala1765= Multiple submitters autosomal dominant cerebellar ataxia
• p.Ala1765Val Multiple submitters Inborn genetic diseases
• p.Ala2470= Multiple submitters autosomal dominant cerebellar ataxia
• p.Ala2529= Multiple submitters Inborn genetic diseases
• p.Ala4188= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg2179= Multiple submitters Inborn genetic diseases
• p.Arg2488His Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Arg4092= Multiple submitters Inborn genetic diseases
• p.Arg4195Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg4373His Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn102= Multiple submitters Inborn genetic diseases
• p.Asn1667= Multiple submitters Charcot-Marie-Tooth disease
• p.Asn2430= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn2473= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn3431= Multiple submitters Inborn genetic diseases
• p.Asn4258= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn4404= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn4573Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn529= Multiple submitters Inborn genetic diseases
• p.Asn675= Multiple submitters Inborn genetic diseases
• p.Asp1165= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp2851Asn Multiple submitters Inborn genetic diseases
• p.Asp2862Asn Multiple submitters Inborn genetic diseases
• p.Asp3404= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp3954= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp4354= Multiple submitters Inborn genetic diseases
• p.Cys4556Tyr Multiple submitters Inborn genetic diseases
• p.Gln246= Multiple submitters autosomal dominant cerebellar ataxia
• p.Gln2928= Multiple submitters Inborn genetic diseases
• p.Gln3800= Multiple submitters Charcot-Marie-Tooth disease
• p.Gln391= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gln493= Multiple submitters Inborn genetic diseases
• p.Glu1574= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly1331= Multiple submitters autosomal dominant cerebellar ataxia
• p.Gly1432= Multiple submitters Inborn genetic diseases
• p.Gly1770= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly1906= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly2400= Multiple submitters autosomal dominant cerebellar ataxia
• p.Gly4559Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile2254= Multiple submitters Inborn genetic diseases
• p.Ile374= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile816= Multiple submitters Inborn genetic diseases
• p.Ile907= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu1766= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu2379= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu2413= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu2486= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu2632= Multiple submitters Inborn genetic diseases
• p.Leu3664= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys1865Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys3480= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Met691Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro1511= Multiple submitters Inborn genetic diseases
• p.Pro2768= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro295= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro4198= Multiple submitters Charcot-Marie-Tooth disease
• p.Pro761= Multiple submitters Inborn genetic diseases
• p.Ser141Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ser1503= Multiple submitters Inborn genetic diseases
• p.Ser2357= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ser2384= Multiple submitters autosomal dominant cerebellar ataxia
• p.Ser3355= Multiple submitters autosomal dominant cerebellar ataxia
• p.Ser3672= Multiple submitters Charcot-Marie-Tooth disease
• p.Ser3917Arg Multiple submitters Inborn genetic diseases
• p.Ser4483= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Thr1255= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Thr3502= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Thr3787= Multiple submitters Inborn genetic diseases
• p.Thr3895= Multiple submitters autosomal dominant cerebellar ataxia
• p.Thr3981Arg Multiple submitters autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• p.Thr4064= Multiple submitters Inborn genetic diseases
• p.Thr4086= Multiple submitters Inborn genetic diseases
• p.Thr4383= Multiple submitters autosomal dominant cerebellar ataxia
• p.Thr4561= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Thr4569= Multiple submitters Inborn genetic diseases
• p.Thr4588= Multiple submitters Inborn genetic diseases
• p.Tyr1618= Multiple submitters autosomal dominant cerebellar ataxia
• p.Tyr1990= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Tyr2265= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Tyr4196= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Val137Ile Multiple submitters Inborn genetic diseases
• p.Val2302Ile Multiple submitters Inborn genetic diseases
• p.Val236Ile Multiple submitters Inborn genetic diseases
• p.Val4469= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O

Likely benign 2385

Showing the top 300 by review status; the full set is in the sitemap.

• c.10413+16T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.10626+12G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.10626+7A>G Multiple submitters Charcot-Marie-Tooth disease
• c.10627-15G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.10627-16C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.10754+10C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.10908+10G>A Multiple submitters autosomal dominant cerebellar ataxia
• c.11207-10T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11207-20G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11461-3C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11595+20C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11596-20G>A Multiple submitters Charcot-Marie-Tooth disease
• c.11596-41C>T Multiple submitters
• c.11596-9_11596-8del Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11690+14C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11691-4G>A Multiple submitters Inborn genetic diseases
• c.11866-4A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.11866-4A>T Multiple submitters Inborn genetic diseases
• c.11942-7G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.12103-15C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.12275+9G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.12276-17T>C Multiple submitters Charcot-Marie-Tooth disease
• c.12400-13C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.12513+17C>T Multiple submitters Charcot-Marie-Tooth disease
• c.12514-12T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.12684+16G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13007-64C>T Multiple submitters
• c.13218+17C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13218+18G>A Multiple submitters Charcot-Marie-Tooth disease
• c.13218+18G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13218+93G>A Multiple submitters
• c.13219-188C>T Multiple submitters
• c.13219-8G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13372+14C>T Multiple submitters Charcot-Marie-Tooth disease
• c.13372+15G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13373-19C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13515+19dup Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13515+9G>A Multiple submitters Charcot-Marie-Tooth disease
• c.13516-13C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13516-14G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.13684+12C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.1461+67T>C Multiple submitters
• c.1461+71T>G Multiple submitters
• c.2538+11_2538+12del Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.2539-6C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.2539-6C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.2539-9T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.2718+20A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.2868+106C>G Multiple submitters
• c.2869-11T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.2869-68C>A Multiple submitters
• c.3016-17C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.3334-5C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.3564+54G>A Multiple submitters
• c.3804+14G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.3961-4G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.4074+11A>T Multiple submitters Charcot-Marie-Tooth disease
• c.4074+15C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.4074+16G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.4074+48G>A Multiple submitters
• c.4185+16C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.4542+89T>C Multiple submitters
• c.4543-77C>T Multiple submitters
• c.4884-18G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.5049+7T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.519-17A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.519-18T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.5239-10T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.5716+90A>G Multiple submitters
• c.5818-65G>A Multiple submitters
• c.5978-128C>T Multiple submitters
• c.5978-19G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6222-20C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6405+13C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6406-12C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6406-4G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6406-4G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6406-5C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6618+9G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.6619-19G>A Multiple submitters Charcot-Marie-Tooth disease
• c.7015-14T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.7015-5T>C Multiple submitters Inborn genetic diseases
• c.7848+13G>A Multiple submitters Charcot-Marie-Tooth disease
• c.7848+17G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8177+12C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8177+13G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8178-19C>T Multiple submitters Charcot-Marie-Tooth disease
• c.8343+148C>T Multiple submitters
• c.8344-4A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8508-18A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8638-7T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8772-12G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8772-13C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.8772-7G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.9049-19G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.9263+4C>T Multiple submitters Inborn genetic diseases
• c.9469-12A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.9469-130C>T Multiple submitters
• c.9643-5T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.9643-7T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.9883+32A>C Multiple submitters
• c.9884-12G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.-13C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• c.*253C>T Multiple submitters
• p.Ala1249= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala1776Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala1776Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala2177= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala2754= Multiple submitters Charcot-Marie-Tooth disease
• p.Ala2809= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala284= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala3452= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala3467= Multiple submitters Charcot-Marie-Tooth disease
• p.Ala4141= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala514= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala763= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ala817Thr Multiple submitters Inborn genetic diseases
• p.Ala821= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1201= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1253= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg1318= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg223His Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg2576= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg2753= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg354= Multiple submitters Charcot-Marie-Tooth disease
• p.Arg3651His Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg3682= Multiple submitters Inborn genetic diseases
• p.Arg4428His Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Arg4633His Multiple submitters Inborn genetic diseases
• p.Asn1138= Multiple submitters Charcot-Marie-Tooth disease
• p.Asn114Ser Multiple submitters Inborn genetic diseases
• p.Asn1670Ser Multiple submitters Inborn genetic diseases
• p.Asn1761= Multiple submitters Inborn genetic diseases
• p.Asn1832= Multiple submitters Inborn genetic diseases
• p.Asn1987Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn280= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn3312= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn3401= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn3754= Multiple submitters Inborn genetic diseases
• p.Asn4038Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn4326= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn4453= Multiple submitters autosomal dominant cerebellar ataxia
• p.Asn4544= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asn579= Multiple submitters Inborn genetic diseases
• p.Asn589= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp106= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp1634= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp1937= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp1958= Multiple submitters Inborn genetic diseases
• p.Asp2289= Multiple submitters Inborn genetic diseases
• p.Asp26= Multiple submitters Inborn genetic diseases
• p.Asp3024= Multiple submitters Charcot-Marie-Tooth disease
• p.Asp3361= Multiple submitters Inborn genetic diseases
• p.Asp3422= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp3571= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp4293= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp4353= Multiple submitters Inborn genetic diseases
• p.Asp4371= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp4554= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Asp71= Multiple submitters Inborn genetic diseases
• p.Asp87= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Cys2076= Multiple submitters Inborn genetic diseases
• p.Cys3808= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Cys4438= Multiple submitters Inborn genetic diseases
• p.Gln2109= Multiple submitters Inborn genetic diseases
• p.Gln219= Multiple submitters Inborn genetic diseases
• p.Gln2886= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gln3057= Multiple submitters Inborn genetic diseases
• p.Gln3293= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gln4490= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gln503= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gln626= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gln629His Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu2116= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu2294= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu2996= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu3025= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu3603= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu4192= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu4414= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu4439Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu4599Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Glu4625= Multiple submitters Inborn genetic diseases
• p.Glu797= Multiple submitters Inborn genetic diseases
• p.Gly1132= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly12= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly1392= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly1771Arg Multiple submitters autosomal dominant cerebellar ataxia
• p.Gly1772= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly2021= Multiple submitters Inborn genetic diseases
• p.Gly2229= Multiple submitters Inborn genetic diseases
• p.Gly2405= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly2656= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly3165= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly3665= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly397= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly4420= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly4499= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Gly4550= Multiple submitters Inborn genetic diseases
• p.Gly599= Multiple submitters Charcot-Marie-Tooth disease
• p.Gly8Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.His1143= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.His1810= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.His195= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.His2282= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.His2439= Multiple submitters Inborn genetic diseases
• p.His2918= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.His3063= Multiple submitters Inborn genetic diseases
• p.His4381= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.His4508= Multiple submitters Inborn genetic diseases
• p.His620= Multiple submitters Charcot-Marie-Tooth disease
• p.His676= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile1214= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile153Val Multiple submitters Inborn genetic diseases
• p.Ile2127= Multiple submitters Charcot-Marie-Tooth disease
• p.Ile2301= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile2535= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile2666= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile3260= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile4144= Multiple submitters Inborn genetic diseases
• p.Ile437= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile480= Multiple submitters Inborn genetic diseases
• p.Ile720= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ile782= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1477= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1615= Multiple submitters Inborn genetic diseases
• p.Leu1704= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1716= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1789= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1808= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1900= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1928= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu1968= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu2769= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu285= Multiple submitters Charcot-Marie-Tooth disease
• p.Leu2877= Multiple submitters Inborn genetic diseases
• p.Leu2911= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu2920= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu3327= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu3713= Multiple submitters Inborn genetic diseases
• p.Leu3833= Multiple submitters autosomal dominant cerebellar ataxia
• p.Leu3909= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu4025= Multiple submitters Inborn genetic diseases
• p.Leu41= Multiple submitters Charcot-Marie-Tooth disease
• p.Leu4265= Multiple submitters Inborn genetic diseases
• p.Leu433= Multiple submitters Charcot-Marie-Tooth disease
• p.Leu4398Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu4611= Multiple submitters Inborn genetic diseases
• p.Leu52= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu568= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu69= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu735= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu781= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Leu829= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys1017= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys1447= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys1584= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys2110= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys3301= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys3950Asn Multiple submitters Inborn genetic diseases ⚠
• p.Lys4111= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys4283= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys4342Glu Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Lys4363Thr Multiple submitters autosomal dominant cerebellar ataxia
• p.Lys4629= Multiple submitters Inborn genetic diseases
• p.Met212Val Multiple submitters Inborn genetic diseases
• p.Phe152= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Phe2303= Multiple submitters Inborn genetic diseases
• p.Phe2479= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Phe2662= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Phe2833= Multiple submitters Inborn genetic diseases
• p.Phe2949= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Phe4278= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Phe4624= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Phe777= Multiple submitters Inborn genetic diseases
• p.Pro123= Multiple submitters Inborn genetic diseases
• p.Pro1273= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro1689= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro1883= Multiple submitters Charcot-Marie-Tooth disease
• p.Pro203= Multiple submitters Inborn genetic diseases
• p.Pro2044= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro2071= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro2386= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro2425= Multiple submitters Inborn genetic diseases
• p.Pro2714= Multiple submitters Inborn genetic diseases
• p.Pro2715= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro2741= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro2908= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro3083= Multiple submitters Inborn genetic diseases
• p.Pro3134= Multiple submitters Inborn genetic diseases
• p.Pro3647= Multiple submitters Inborn genetic diseases
• p.Pro3803= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro3899= Multiple submitters Inborn genetic diseases
• p.Pro3942= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro4024= Multiple submitters Inborn genetic diseases
• p.Pro4118= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro4165= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro943= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Pro974= Multiple submitters Charcot-Marie-Tooth disease axonal type 2O
• p.Ser13Leu Multiple submitters Inborn genetic diseases