NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001339130]|not specified [RCV000521368] |
Chr1:161306890 [GRCh38] Chr1:161276680 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.274G>A (p.Val92Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001323340]|not specified [RCV000519851] |
Chr1:161306882 [GRCh38] Chr1:161276672 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.646-7C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000531660]|not provided [RCV001537849]|not specified [RCV000518200] |
Chr1:161305984 [GRCh38] Chr1:161275774 [GRCh37] Chr1:1q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789467]|Charcot-Marie-Tooth disease type 1B [RCV002289708]|Charcot-Marie-Tooth disease, type I [RCV002525120]|not provided [RCV000519245] |
Chr1:161306756 [GRCh38] Chr1:161276546 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.449-4C>T |
single nucleotide variant |
not specified [RCV000516675] |
Chr1:161306468 [GRCh38] Chr1:161276258 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001212136]|not specified [RCV000517150] |
Chr1:161307388 [GRCh38] Chr1:161277178 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.394C>G (p.Pro132Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000554187]|not provided [RCV003233703] |
Chr1:161306762 [GRCh38] Chr1:161276552 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV001535775]|Charcot-Marie-Tooth disease, type I [RCV000552351] |
Chr1:161305961 [GRCh38] Chr1:161275751 [GRCh37] Chr1:1q23.3 |
uncertain significance|not provided |
MPZ, 3-BP DEL, SER34DEL |
deletion |
Charcot-Marie-Tooth disease type 1B [RCV000015231]|Charcot-Marie-Tooth disease, demyelinating, type 1b [RCV000015231]|Charcot-Marie-Tooth disease, type IB [RCV000015231] |
Chr1:1q22 |
pathogenic |
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG |
indel |
Charcot-Marie-Tooth disease type 1B [RCV000015234] |
Chr1:161305976..161305984 [GRCh38] Chr1:161275766..161275774 [GRCh37] Chr1:1q23.3 |
pathogenic |
MPZ, 1-BP DEL |
deletion |
Autosomal recessive Dejerine-Sottas syndrome [RCV000015254] |
Chr1:1q22 |
pathogenic |
NM_000530.6:c.550_552delinsG |
indel |
Neuropathy, congenital hypomyelinating, 2 [RCV000015256] |
Chr1:1q22 |
pathogenic |
MPZ, IVS4DS, T-G, +2 |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000015261]|Charcot-Marie-Tooth disease, demyelinating, type 1b [RCV000015261]|Charcot-Marie-Tooth disease, type IB [RCV000015261] |
Chr1:1q22 |
pathogenic |
NM_000530.8(MPZ):c.276G>A (p.Val92=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790070]|Charcot-Marie-Tooth disease type 1B [RCV000015264]|Charcot-Marie-Tooth disease, type I [RCV000795131] |
Chr1:161306880 [GRCh38] Chr1:161276670 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
D195Y |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, type 1b [RCV000015265] |
Chr1:1q22 |
pathogenic |
NM_000530.8(MPZ):c.511T>A (p.Leu171Met) |
single nucleotide variant |
not provided [RCV001508017] |
Chr1:161306402 [GRCh38] Chr1:161276192 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638162]|Inborn genetic diseases [RCV002358399]|not provided [RCV000518403] |
Chr1:161306771 [GRCh38] Chr1:161276561 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790082]|Charcot-Marie-Tooth disease, type I [RCV002525053]|not specified [RCV000516315] |
Chr1:161307299 [GRCh38] Chr1:161277089 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.210C>T (p.Pro70=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000875743]|Inborn genetic diseases [RCV002420298]|not specified [RCV000517067] |
Chr1:161307282 [GRCh38] Chr1:161277072 [GRCh37] Chr1:1q23.3 |
benign|likely benign |
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789485]|Charcot-Marie-Tooth disease, type I [RCV000703449]|not provided [RCV000518262]|not specified [RCV001002532] |
Chr1:161306738 [GRCh38] Chr1:161276528 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789440]|Charcot-Marie-Tooth disease type 1B [RCV000015229]|Charcot-Marie-Tooth disease, type I [RCV000812845] |
Chr1:161306870 [GRCh38] Chr1:161276660 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789441]|Charcot-Marie-Tooth disease type 1B [RCV000015230]|Charcot-Marie-Tooth disease, type I [RCV000704216] |
Chr1:161306886 [GRCh38] Chr1:161276676 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000803240]|Dejerine-Sottas disease [RCV000789439]|Dejerine-Sottas syndrome, autosomal dominant [RCV000015232]|not provided [RCV000390750] |
Chr1:161307304 [GRCh38] Chr1:161277094 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV000198029]|Charcot-Marie-Tooth disease, type I [RCV001851867]|Dejerine-Sottas disease [RCV000032123]|Dejerine-Sottas syndrome, autosomal dominant [RCV000015233] |
Chr1:161306414 [GRCh38] Chr1:161276204 [GRCh37] Chr1:1q23.3 |
pathogenic|conflicting interpretations of pathogenicity |
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000015235]|Dejerine-Sottas disease [RCV001807729]|not provided [RCV000425572] |
Chr1:161306752 [GRCh38] Chr1:161276542 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000015236]|Charcot-Marie-Tooth disease, type I [RCV000462311]|not provided [RCV000712317] |
Chr1:161306747 [GRCh38] Chr1:161276537 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790115]|Charcot-Marie-Tooth disease type 1B [RCV000015237]|Charcot-Marie-Tooth disease, type I [RCV000638160]|Inborn genetic diseases [RCV002433456]|not provided [RCV001811142] |
Chr1:161306863 [GRCh38] Chr1:161276653 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000015238]|Charcot-Marie-Tooth disease, type I [RCV000548074]|not provided [RCV000237048] |
Chr1:161306864 [GRCh38] Chr1:161276654 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.293G>A (p.Arg98His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173692]|Charcot-Marie-Tooth disease type 1B [RCV000015239]|Charcot-Marie-Tooth disease, type I [RCV000196172]|Decreased nerve conduction velocity [RCV000415463]|Inborn genetic diseases [RCV002433457]|MPZ-related condition [RCV003398515]|not provided [RCV000376287] |
Chr1:161306863 [GRCh38] Chr1:161276653 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173697]|Charcot-Marie-Tooth disease type 1B [RCV000015240]|Charcot-Marie-Tooth disease, type I [RCV001224917] |
Chr1:161307304 [GRCh38] Chr1:161277094 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.643C>T (p.Gln215Ter) |
single nucleotide variant |
Neuropathy, congenital hypomyelinating, 2 [RCV000015241] |
Chr1:161306110 [GRCh38] Chr1:161275900 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.242A>G (p.His81Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789479]|Charcot-Marie-Tooth disease type 1B [RCV000015242]|Charcot-Marie-Tooth disease, type I [RCV001385507]|not provided [RCV000518134] |
Chr1:161306914 [GRCh38] Chr1:161276704 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000192248]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001262744]|Charcot-Marie-Tooth disease type 1B [RCV000015245]|Charcot-Marie-Tooth disease type 2I [RCV000763262]|Charcot-Marie-Tooth disease type 2J [RCV000015244]|Charcot-Marie-Tooth disease, type I [RCV000638155]|Distal hereditary motor neuropathy type 2 [RCV002245981]|Inborn genetic diseases [RCV002345245]|not provided [RCV000517355] |
Chr1:161306785 [GRCh38] Chr1:161276575 [GRCh37] Chr1:1q23.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173698]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000015247]|Charcot-Marie-Tooth disease, type I [RCV000638171]|not provided [RCV001552371] |
Chr1:161307389 [GRCh38] Chr1:161277179 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000190346]|Charcot-Marie-Tooth disease type 2J [RCV000015248]|Charcot-Marie-Tooth disease, type I [RCV001070451] |
Chr1:161307268 [GRCh38] Chr1:161277058 [GRCh37] Chr1:1q23.3 |
pathogenic|not provided |
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790099]|Charcot-Marie-Tooth disease type 1B [RCV000190345]|Charcot-Marie-Tooth disease type 2I [RCV000015249]|Charcot-Marie-Tooth disease, type I [RCV000638152]|Inborn genetic diseases [RCV002381251]|not provided [RCV001093014] |
Chr1:161307361 [GRCh38] Chr1:161277151 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000192587]|Charcot-Marie-Tooth disease, type I [RCV001060346]|Roussy-Lévy syndrome [RCV000015250]|not provided [RCV000517209] |
Chr1:161306763 [GRCh38] Chr1:161276553 [GRCh37] Chr1:1q23.3 |
pathogenic|not provided |
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000015251]|Charcot-Marie-Tooth disease, type I [RCV000536804]|Inborn genetic diseases [RCV002321483]|not provided [RCV001818160] |
Chr1:161306848 [GRCh38] Chr1:161276638 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173691]|Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths [RCV000015252]|Charcot-Marie-Tooth disease, type I [RCV000546842]|not provided [RCV000436362] |
Chr1:161307259 [GRCh38] Chr1:161277049 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.184A>T (p.Ile62Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths [RCV000015253] |
Chr1:161307308 [GRCh38] Chr1:161277098 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000015255]|Charcot-Marie-Tooth disease type 2I [RCV000763260]|Charcot-Marie-Tooth disease, type I [RCV000234112]|MPZ-related condition [RCV003398516]|not provided [RCV000235936] |
Chr1:161306722 [GRCh38] Chr1:161276512 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.178G>C (p.Asp60His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV002226649]|Charcot-Marie-Tooth disease type 2I [RCV000015257]|Charcot-Marie-Tooth disease, type I [RCV002514101] |
Chr1:161307314 [GRCh38] Chr1:161277104 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV000015258]|Charcot-Marie-Tooth disease, type I [RCV000799870]|Roussy-Lévy syndrome [RCV001196641]|Tip-toe gait [RCV003318543] |
Chr1:161307306 [GRCh38] Chr1:161277096 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2J [RCV000015259]|Charcot-Marie-Tooth disease, type I [RCV001851868] |
Chr1:161306866 [GRCh38] Chr1:161276656 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.371C>A (p.Thr124Lys) |
single nucleotide variant |
Neuropathy, congenital hypomyelinating, 2 [RCV000015260] |
Chr1:161306785 [GRCh38] Chr1:161276575 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790090]|Charcot-Marie-Tooth disease type 1B [RCV000015262] |
Chr1:161306789 [GRCh38] Chr1:161276579 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2J [RCV000015263]|Charcot-Marie-Tooth disease, type I [RCV001308867]|not provided [RCV000223657] |
Chr1:161306843 [GRCh38] Chr1:161276633 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.6(MPZ):c.67+364T>G |
single nucleotide variant |
Lung cancer [RCV000089842] |
Chr1:161309475 [GRCh38] Chr1:161279265 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000033911]|Charcot-Marie-Tooth disease, type I [RCV001051613]|Dejerine-Sottas disease [RCV000789434] |
Chr1:161307403 [GRCh38] Chr1:161277193 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000033912] |
Chr1:161307317 [GRCh38] Chr1:161277107 [GRCh37] Chr1:1q23.3 |
pathogenic|not provided |
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789424]|Charcot-Marie-Tooth disease type 1B [RCV000033913] |
Chr1:161306915 [GRCh38] Chr1:161276705 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789426]|Charcot-Marie-Tooth disease dominant intermediate D [RCV003335061]|Charcot-Marie-Tooth disease type 1B [RCV000033914]|Charcot-Marie-Tooth disease type 2I [RCV003444056]|Charcot-Marie-Tooth disease, type I [RCV000693764]|not provided [RCV001699102] |
Chr1:161306912 [GRCh38] Chr1:161276702 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000033915] |
Chr1:161306890 [GRCh38] Chr1:161276680 [GRCh37] Chr1:1q23.3 |
pathogenic|not provided |
NM_000530.8(MPZ):c.306del (p.Asp104fs) |
deletion |
Autosomal recessive Dejerine-Sottas syndrome [RCV002277116]|Charcot-Marie-Tooth disease [RCV000789496]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001705641]|Charcot-Marie-Tooth disease type 1B [RCV000033916]|Charcot-Marie-Tooth disease, type I [RCV001852684] |
Chr1:161306850 [GRCh38] Chr1:161276640 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789425]|Charcot-Marie-Tooth disease type 1B [RCV000033917]|Charcot-Marie-Tooth disease, type I [RCV001208935]|not provided [RCV000657923] |
Chr1:161306819 [GRCh38] Chr1:161276609 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000033918]|Charcot-Marie-Tooth disease, type I [RCV000819474]|not provided [RCV000516461] |
Chr1:161306767 [GRCh38] Chr1:161276557 [GRCh37] Chr1:1q23.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789486]|Charcot-Marie-Tooth disease type 1B [RCV000033919]|Charcot-Marie-Tooth disease, type I [RCV000205003]|Inborn genetic diseases [RCV002326719]|not provided [RCV000217802] |
Chr1:161306426 [GRCh38] Chr1:161276216 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000530.8(MPZ):c.588dup (p.Met197fs) |
duplication |
Charcot-Marie-Tooth disease type 1B [RCV000033920] |
Chr1:161306164..161306165 [GRCh38] Chr1:161275954..161275955 [GRCh37] Chr1:1q23.3 |
pathogenic|not provided |
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789431]|Charcot-Marie-Tooth disease type 1B [RCV000033921]|Charcot-Marie-Tooth disease, type I [RCV000700463]|Inborn genetic diseases [RCV002362608] |
Chr1:161305953 [GRCh38] Chr1:161275743 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790077]|Charcot-Marie-Tooth disease type 1B [RCV000033922] |
Chr1:161307328 [GRCh38] Chr1:161277118 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789688]|Charcot-Marie-Tooth disease type 1B [RCV000033923]|Charcot-Marie-Tooth disease type 2I [RCV001807746]|Charcot-Marie-Tooth disease, type I [RCV001852685]|Inborn genetic diseases [RCV002453291]|not provided [RCV000994155] |
Chr1:161306809 [GRCh38] Chr1:161276599 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.645+1G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790079]|Charcot-Marie-Tooth disease type 1B [RCV000033924] |
Chr1:161306107 [GRCh38] Chr1:161275897 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790078]|Charcot-Marie-Tooth disease type 1B [RCV000033925] |
Chr1:161305974 [GRCh38] Chr1:161275764 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance|not provided |
GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3 |
copy number gain |
See cases [RCV000051555] |
Chr1:160866658..161315114 [GRCh38] Chr1:160836448..161284904 [GRCh37] Chr1:159103072..159551528 [NCBI36] Chr1:1q23.3 |
uncertain significance |
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 |
copy number loss |
See cases [RCV000051172] |
Chr1:159479887..166895086 [GRCh38] Chr1:159449677..166864323 [GRCh37] Chr1:157716301..165130947 [NCBI36] Chr1:1q23.2-24.1 |
pathogenic |
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1 |
pathogenic |
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] |
Chr1:160789732..168617494 [GRCh38] Chr1:160759522..168586732 [GRCh37] Chr1:159026146..166853356 [NCBI36] Chr1:1q23.3-24.2 |
pathogenic |
NM_000530.8(MPZ):c.684C>T (p.Ser228=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174335]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000384849]|Charcot-Marie-Tooth disease type 1B [RCV001093827]|Charcot-Marie-Tooth disease type 4E [RCV000271688]|Charcot-Marie-Tooth disease, type I [RCV000475505]|Neuropathy, congenital hypomyelinating, 2 [RCV001093828]|Roussy-Lévy syndrome [RCV000385856]|not provided [RCV001811973]|not specified [RCV000117630] |
Chr1:161305939 [GRCh38] Chr1:161275729 [GRCh37] Chr1:1q23.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000530.8(MPZ):c.600G>A (p.Gly200=) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000396629]|Charcot-Marie-Tooth disease type 1B [RCV001093887]|Charcot-Marie-Tooth disease type 2I [RCV000576698]|Charcot-Marie-Tooth disease type 4E [RCV000303851]|Charcot-Marie-Tooth disease, type I [RCV000469826]|Neuropathy, congenital hypomyelinating, 2 [RCV001093886]|Roussy-Lévy syndrome [RCV000396637]|not specified [RCV000126797] |
Chr1:161306153 [GRCh38] Chr1:161275943 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001852535]|Inborn genetic diseases [RCV000190787] |
Chr1:161306776 [GRCh38] Chr1:161276566 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790119]|Charcot-Marie-Tooth disease, type I [RCV000168067]|not provided [RCV000236489] |
Chr1:161307310 [GRCh38] Chr1:161277100 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173695]|Charcot-Marie-Tooth disease, type I [RCV000168337] |
Chr1:161306842 [GRCh38] Chr1:161276632 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.*624C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000261171]|Charcot-Marie-Tooth disease type 1B [RCV000368241]|Charcot-Marie-Tooth disease type 4E [RCV000262294]|Neuropathy, congenital hypomyelinating, 2 [RCV001093822]|Roussy-Lévy syndrome [RCV000357089]|not provided [RCV001709575] |
Chr1:161305252 [GRCh38] Chr1:161275042 [GRCh37] Chr1:1q23.3 |
benign|likely benign |
NM_000530.8(MPZ):c.*52G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000301779]|Charcot-Marie-Tooth disease type 1B [RCV000265390]|Charcot-Marie-Tooth disease type 4E [RCV000355341]|Neuropathy, congenital hypomyelinating, 2 [RCV001093826]|Roussy-Lévy syndrome [RCV000270677]|not provided [RCV001357532] |
Chr1:161305824 [GRCh38] Chr1:161275614 [GRCh37] Chr1:1q23.3 |
benign|likely benign|uncertain significance |
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV000195798]|Charcot-Marie-Tooth disease, type I [RCV000805947]|not provided [RCV001762424] |
Chr1:161306462 [GRCh38] Chr1:161276252 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789460]|Charcot-Marie-Tooth disease, type I [RCV000198501] |
Chr1:161306737 [GRCh38] Chr1:161276527 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000199865] |
Chr1:161306846 [GRCh38] Chr1:161276636 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789484]|Charcot-Marie-Tooth disease type 1B [RCV000194294]|Charcot-Marie-Tooth disease, type I [RCV001053594] |
Chr1:161306414 [GRCh38] Chr1:161276204 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance|not provided |
NP_000521.1(MPZ):p.Asn116Ser |
protein only |
Charcot-Marie-Tooth disease type 1B [RCV000194444] |
Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789423]|Charcot-Marie-Tooth disease type 1B [RCV000193325]|Charcot-Marie-Tooth disease, type I [RCV000688094]|not provided [RCV000992318] |
Chr1:161307311 [GRCh38] Chr1:161277101 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789471]|Charcot-Marie-Tooth disease type 1B [RCV000193606]|Charcot-Marie-Tooth disease, type I [RCV000538322] |
Chr1:161306426 [GRCh38] Chr1:161276216 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance|not provided |
NM_000530.8(MPZ):c.646-10_650del |
deletion |
Charcot-Marie-Tooth disease [RCV000789429]|Charcot-Marie-Tooth disease type 1B [RCV000201070] |
Chr1:161305973..161305987 [GRCh38] Chr1:161275763..161275777 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.116A>C (p.His39Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000206430]|Inborn genetic diseases [RCV002327052]|not provided [RCV000236108]|not specified [RCV001002484] |
Chr1:161307376 [GRCh38] Chr1:161277166 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789438]|Charcot-Marie-Tooth disease, type I [RCV000464045]|not provided [RCV000712322] |
Chr1:161307402 [GRCh38] Chr1:161277192 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000201196] |
Chr1:161306746 [GRCh38] Chr1:161276536 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.504G>A (p.Val168=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174328]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000372187]|Charcot-Marie-Tooth disease type 1B [RCV001093725]|Charcot-Marie-Tooth disease type 4E [RCV000329827]|Charcot-Marie-Tooth disease, type I [RCV000276553]|Neuropathy, congenital hypomyelinating, 2 [RCV001093724]|Roussy-Lévy syndrome [RCV000317582]|not provided [RCV001812779]|not specified [RCV000613993] |
Chr1:161306409 [GRCh38] Chr1:161276199 [GRCh37] Chr1:1q23.3 |
benign|likely benign |
NM_000530.8(MPZ):c.*954C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000298286]|Charcot-Marie-Tooth disease type 1B [RCV000280448]|Charcot-Marie-Tooth disease type 4E [RCV000341490]|Neuropathy, congenital hypomyelinating, 2 [RCV001093865]|Roussy-Lévy syndrome [RCV000338011] |
Chr1:161304922 [GRCh38] Chr1:161274712 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173705]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000377930]|Charcot-Marie-Tooth disease type 1B [RCV001093832]|Charcot-Marie-Tooth disease type 4E [RCV000282369]|Charcot-Marie-Tooth disease, type I [RCV000283414]|Neuropathy, congenital hypomyelinating, 2 [RCV001093831]|Roussy-Lévy syndrome [RCV000343046] |
Chr1:161307415 [GRCh38] Chr1:161277205 [GRCh37] Chr1:1q23.3 |
benign|likely benign|uncertain significance |
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789432]|Charcot-Marie-Tooth disease, type I [RCV000204639]|not provided [RCV000517562] |
Chr1:161307386 [GRCh38] Chr1:161277176 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001854760]|not provided [RCV000216501] |
Chr1:161306732 [GRCh38] Chr1:161276522 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
Single allele |
deletion |
Charcot-Marie-Tooth disease type 1B [RCV000235057] |
Chr1:161309667..161329606 [GRCh38] Chr1:161279434..161299373 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NC_000001.11:g.161305808_161309983dup |
duplication |
Charcot-Marie-Tooth disease type 1B [RCV000235059] |
Chr1:161305807..161305808 [GRCh38] Chr1:161275597..161275598 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789436]|Charcot-Marie-Tooth disease type 1B [RCV000235064] |
Chr1:161306753 [GRCh38] Chr1:161276543 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.149G>T (p.Cys50Phe) |
single nucleotide variant |
not provided [RCV000223173] |
Chr1:161307343 [GRCh38] Chr1:161277133 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001038864]|not provided [RCV000219209] |
Chr1:161305892 [GRCh38] Chr1:161275682 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala) |
indel |
Charcot-Marie-Tooth disease, type I [RCV000231316] |
Chr1:161306787..161306788 [GRCh38] Chr1:161276577..161276578 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.200G>A (p.Arg67His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174319]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001097631]|Charcot-Marie-Tooth disease type 1B [RCV001097630]|Charcot-Marie-Tooth disease, type I [RCV000228125]|Inborn genetic diseases [RCV002417996]|Neuropathy, congenital hypomyelinating, 2 [RCV001097629]|Roussy-Lévy syndrome [RCV001097632]|not provided [RCV001812639]|not specified [RCV000479710] |
Chr1:161307292 [GRCh38] Chr1:161277082 [GRCh37] Chr1:1q23.3 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000530.8(MPZ):c.188_190del (p.Ser63del) |
deletion |
Charcot-Marie-Tooth disease [RCV000790083]|Charcot-Marie-Tooth disease type 1B [RCV000015231]|Charcot-Marie-Tooth disease, type I [RCV000535237]|not provided [RCV000235309] |
Chr1:161307302..161307304 [GRCh38] Chr1:161277092..161277094 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.464G>T (p.Gly155Val) |
single nucleotide variant |
not provided [RCV000235423] |
Chr1:161306449 [GRCh38] Chr1:161276239 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001341686]|not provided [RCV000235645] |
Chr1:161306158 [GRCh38] Chr1:161275948 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.584+2T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790116]|Charcot-Marie-Tooth disease type 1B [RCV000015261]|not provided [RCV000235519] |
Chr1:161306327 [GRCh38] Chr1:161276117 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790073]|Charcot-Marie-Tooth disease, type I [RCV001390413]|not provided [RCV000235941] |
Chr1:161307356..161307363 [GRCh38] Chr1:161277146..161277153 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790309]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000279139]|Charcot-Marie-Tooth disease type 1B [RCV001093885]|Charcot-Marie-Tooth disease type 4E [RCV000296319]|Charcot-Marie-Tooth disease, type I [RCV000555621]|Inborn genetic diseases [RCV002365233]|Neuropathy, congenital hypomyelinating, 2 [RCV001093884]|Roussy-Lévy syndrome [RCV000373587]|not provided [RCV000236004]|not specified [RCV001658084] |
Chr1:161306116 [GRCh38] Chr1:161275906 [GRCh37] Chr1:1q23.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV000763755]|Charcot-Marie-Tooth disease, type I [RCV001477198]|Inborn genetic diseases [RCV002379053]|not provided [RCV000236516] |
Chr1:161307359 [GRCh38] Chr1:161277149 [GRCh37] Chr1:1q23.3 |
benign|likely benign|uncertain significance |
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) |
single nucleotide variant |
not provided [RCV000236584] |
Chr1:161307316 [GRCh38] Chr1:161277106 [GRCh37] Chr1:1q23.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790120]|Charcot-Marie-Tooth disease, type I [RCV000638165]|not provided [RCV000237035] |
Chr1:161306800 [GRCh38] Chr1:161276590 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.67+1G>A |
single nucleotide variant |
not provided [RCV000516623] |
Chr1:161309838 [GRCh38] Chr1:161279628 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) |
microsatellite |
Charcot-Marie-Tooth disease [RCV000789487]|Charcot-Marie-Tooth disease type 2I [RCV003147499]|Charcot-Marie-Tooth disease type 2J [RCV000845000]|Charcot-Marie-Tooth disease, type I [RCV000819196]|Inborn genetic diseases [RCV002367719]|not provided [RCV000517719] |
Chr1:161305915..161305917 [GRCh38] Chr1:161275705..161275707 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000530.8(MPZ):c.*743C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000396851]|Charcot-Marie-Tooth disease type 1B [RCV000347133]|Charcot-Marie-Tooth disease type 4E [RCV000286154]|Neuropathy, congenital hypomyelinating, 2 [RCV001093769]|Roussy-Lévy syndrome [RCV000339052] |
Chr1:161305133 [GRCh38] Chr1:161274923 [GRCh37] Chr1:1q23.3 |
benign|likely benign|uncertain significance |
NM_000530.8(MPZ):c.*568C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000376668]|Charcot-Marie-Tooth disease type 1B [RCV000322023]|Charcot-Marie-Tooth disease type 4E [RCV000286729]|Neuropathy, congenital hypomyelinating, 2 [RCV001093823]|Roussy-Lévy syndrome [RCV000382378]|not provided [RCV001785548] |
Chr1:161305308 [GRCh38] Chr1:161275098 [GRCh37] Chr1:1q23.3 |
benign|likely benign |
NM_000530.8(MPZ):c.*761A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000316529]|Charcot-Marie-Tooth disease type 1B [RCV000282450]|Charcot-Marie-Tooth disease type 4E [RCV000373521]|Neuropathy, congenital hypomyelinating, 2 [RCV001093878]|Roussy-Lévy syndrome [RCV000331888]|not provided [RCV001683172] |
Chr1:161305115 [GRCh38] Chr1:161274905 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.*1048A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000358066]|Charcot-Marie-Tooth disease type 1B [RCV000265703]|Charcot-Marie-Tooth disease type 4E [RCV000269004]|Neuropathy, congenital hypomyelinating, 2 [RCV001093818]|Roussy-Lévy syndrome [RCV000327786]|not provided [RCV002274972] |
Chr1:161304828 [GRCh38] Chr1:161274618 [GRCh37] Chr1:1q23.3 |
benign|likely benign|uncertain significance |
NM_000530.8(MPZ):c.155_157del (p.Phe52del) |
deletion |
not specified [RCV000517038] |
Chr1:161307335..161307337 [GRCh38] Chr1:161277125..161277127 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*195G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000354081]|Charcot-Marie-Tooth disease type 1B [RCV000300540]|Charcot-Marie-Tooth disease type 4E [RCV000313368]|Neuropathy, congenital hypomyelinating, 2 [RCV001093774]|Roussy-Lévy syndrome [RCV000395380]|not provided [RCV003221890] |
Chr1:161305681 [GRCh38] Chr1:161275471 [GRCh37] Chr1:1q23.3 |
benign|likely benign|uncertain significance |
NM_000530.8(MPZ):c.*251C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000287992]|Charcot-Marie-Tooth disease type 1B [RCV000348698]|Charcot-Marie-Tooth disease type 4E [RCV000293818]|Neuropathy, congenital hypomyelinating, 2 [RCV001093772]|Roussy-Lévy syndrome [RCV000347391] |
Chr1:161305625 [GRCh38] Chr1:161275415 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.-49C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000347617]|Charcot-Marie-Tooth disease type 1B [RCV000396895]|Charcot-Marie-Tooth disease type 4E [RCV000306731]|Neuropathy, congenital hypomyelinating, 2 [RCV001093888]|Roussy-Lévy syndrome [RCV000396893] |
Chr1:161309954 [GRCh38] Chr1:161279744 [GRCh37] Chr1:1q23.3 |
benign|likely benign|uncertain significance |
NM_000530.8(MPZ):c.*858T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 4E [RCV000332583]|Charcot-Marie-Tooth disease, type I [RCV000274388]|Charcot-Marie-Tooth, Intermediate [RCV000270444]|Roussy-Lévy syndrome [RCV000362754] |
Chr1:161305018 [GRCh38] Chr1:161274808 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*901GA[7] |
microsatellite |
Charcot-Marie-Tooth disease type 4E [RCV000310426]|Charcot-Marie-Tooth disease, type I [RCV000271763]|Charcot-Marie-Tooth, Intermediate [RCV000302459]|Roussy-Lévy syndrome [RCV000359575]|not provided [RCV001689972] |
Chr1:161304965..161304966 [GRCh38] Chr1:161274755..161274756 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.*1074A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000301051]|Charcot-Marie-Tooth disease type 1B [RCV000305607]|Charcot-Marie-Tooth disease type 4E [RCV000353504]|Neuropathy, congenital hypomyelinating, 2 [RCV001093765]|Roussy-Lévy syndrome [RCV000261032] |
Chr1:161304802 [GRCh38] Chr1:161274592 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 4E [RCV000268795]|Charcot-Marie-Tooth disease, type I [RCV000364593]|Charcot-Marie-Tooth, Intermediate [RCV000309818]|Roussy-Lévy syndrome [RCV000274699] |
Chr1:161306398 [GRCh38] Chr1:161276188 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.366T>G (p.Asn122Lys) |
single nucleotide variant |
not provided [RCV000488220] |
Chr1:161306790 [GRCh38] Chr1:161276580 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs) |
duplication |
not provided [RCV000490008] |
Chr1:161309897..161309898 [GRCh38] Chr1:161279687..161279688 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789497]|Charcot-Marie-Tooth disease, type I [RCV000638176]|not provided [RCV001815361] |
Chr1:161307340 [GRCh38] Chr1:161277130 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.560_563dup (p.Ala189fs) |
microsatellite |
Charcot-Marie-Tooth disease, type I [RCV000638177] |
Chr1:161306349..161306350 [GRCh38] Chr1:161276139..161276140 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790102]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001097627]|Charcot-Marie-Tooth disease type 1B [RCV001097625]|Charcot-Marie-Tooth disease, type I [RCV000638163]|Inborn genetic diseases [RCV002528901]|Neuropathy, congenital hypomyelinating, 2 [RCV001097626]|Roussy-Lévy syndrome [RCV001097628]|not provided [RCV003324776] |
Chr1:161306728 [GRCh38] Chr1:161276518 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789465]|Charcot-Marie-Tooth disease, type I [RCV000638154] |
Chr1:161306858 [GRCh38] Chr1:161276648 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) |
single nucleotide variant |
Dejerine-Sottas disease [RCV000790057]|not provided [RCV000521410] |
Chr1:161306788 [GRCh38] Chr1:161276578 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.*1020G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000348310]|Charcot-Marie-Tooth disease type 1B [RCV000386477]|Charcot-Marie-Tooth disease type 4E [RCV000295760]|Neuropathy, congenital hypomyelinating, 2 [RCV001093819]|Roussy-Lévy syndrome [RCV000326435] |
Chr1:161304856 [GRCh38] Chr1:161274646 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*681A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000396867]|Charcot-Marie-Tooth disease type 1B [RCV000307585]|Charcot-Marie-Tooth disease type 4E [RCV000369359]|Neuropathy, congenital hypomyelinating, 2 [RCV001093770]|Roussy-Lévy syndrome [RCV000311202] |
Chr1:161305195 [GRCh38] Chr1:161274985 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_003001.3(SDHC):c.20+11_20+12dup |
duplication |
Charcot-Marie-Tooth disease type 4E [RCV000354800]|Charcot-Marie-Tooth disease, type I [RCV000397974]|Charcot-Marie-Tooth, Intermediate [RCV000351164]|Gastrointestinal stromal tumor [RCV001521360]|Hereditary cancer-predisposing syndrome [RCV000492358]|Pheochromocytoma [RCV000399693]|Roussy-Lévy syndrome [RCV000297715]|not provided [RCV000587490]|not specified [RCV000037724] |
Chr1:161314434..161314435 [GRCh38] Chr1:161284226..161284227 [GRCh37] Chr1:1q23.3 |
benign|likely benign |
NM_000530.8(MPZ):c.68-5T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000532074]|Inborn genetic diseases [RCV002367833] |
Chr1:161307429 [GRCh38] Chr1:161277219 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_003001.5(SDHC):c.-38G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 4E [RCV000325790]|Charcot-Marie-Tooth disease, type I [RCV000287178]|Charcot-Marie-Tooth, Intermediate [RCV000290768]|Gastrointestinal stromal tumor [RCV001523188]|Gastrointestinal stromal tumor [RCV002488835]|Hereditary cancer-predisposing syndrome [RCV002256223]|Hereditary pheochromocytoma-paraganglioma [RCV001101380]|Paragangliomas 3 [RCV000662850]|Pheochromocytoma [RCV000406625]|Roussy-Lévy syndrome [RCV000382819]|not provided [RCV001653768]|not specified [RCV001000114] |
Chr1:161314368 [GRCh38] Chr1:161284158 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001067919]|not provided [RCV000591713] |
Chr1:161306112 [GRCh38] Chr1:161275902 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.86C>T (p.Ala29Val) |
single nucleotide variant |
not provided [RCV000592481] |
Chr1:161307406 [GRCh38] Chr1:161277196 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.74C>T (p.Ser25Phe) |
single nucleotide variant |
not specified [RCV000518569] |
Chr1:161307418 [GRCh38] Chr1:161277208 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000549580] |
Chr1:161306825 [GRCh38] Chr1:161276615 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790095]|Charcot-Marie-Tooth disease, type I [RCV000704378]|not provided [RCV000523011] |
Chr1:161306824 [GRCh38] Chr1:161276614 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.297C>T (p.Ile99=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000528906]|Inborn genetic diseases [RCV002438343] |
Chr1:161306859 [GRCh38] Chr1:161276649 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638169] |
Chr1:161307404 [GRCh38] Chr1:161277194 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638181]|not provided [RCV001027482] |
Chr1:161306737 [GRCh38] Chr1:161276527 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.354C>T (p.Asp118=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638187]|Inborn genetic diseases [RCV002458027] |
Chr1:161306802 [GRCh38] Chr1:161276592 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.708G>A (p.Lys236=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001442096]|Inborn genetic diseases [RCV002360551]|not provided [RCV000826930] |
Chr1:161305915 [GRCh38] Chr1:161275705 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.24C>T (p.Ser8=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174331]|Charcot-Marie-Tooth disease, type I [RCV001084731]|not provided [RCV000559261]|not specified [RCV000615185] |
Chr1:161309882 [GRCh38] Chr1:161279672 [GRCh37] Chr1:1q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) |
single nucleotide variant |
Roussy-Lévy syndrome [RCV001196260]|Sensorimotor neuropathy [RCV000415393]|Tremor [RCV000414872] |
Chr1:161305924 [GRCh38] Chr1:161275714 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.284T>C (p.Phe95Ser) |
single nucleotide variant |
not provided [RCV000416143] |
Chr1:161306872 [GRCh38] Chr1:161276662 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:161255241-161276497) |
copy number loss |
Charcot-Marie-Tooth disease type 4E [RCV000415266] |
Chr1:161255241..161276497 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.68-1G>C |
single nucleotide variant |
not provided [RCV000412954] |
Chr1:161307425 [GRCh38] Chr1:161277215 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.646-3C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001067772]|not provided [RCV001662368]|not specified [RCV000413024] |
Chr1:161305980 [GRCh38] Chr1:161275770 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000806037] |
Chr1:161307333 [GRCh38] Chr1:161277123 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV000763261]|Charcot-Marie-Tooth disease, type I [RCV000525895] |
Chr1:161306759 [GRCh38] Chr1:161276549 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.235-7C>T |
single nucleotide variant |
not specified [RCV000438231] |
Chr1:161306928 [GRCh38] Chr1:161276718 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.645+12T>C |
single nucleotide variant |
not specified [RCV000420483] |
Chr1:161306096 [GRCh38] Chr1:161275886 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.483G>C (p.Val161=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000463049]|Inborn genetic diseases [RCV002341118] |
Chr1:161306430 [GRCh38] Chr1:161276220 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer) |
duplication |
Charcot-Marie-Tooth disease, type I [RCV000470371] |
Chr1:161306772..161306773 [GRCh38] Chr1:161276562..161276563 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789070]|Charcot-Marie-Tooth disease, type I [RCV000470689]|MPZ-related condition [RCV003409638]|not provided [RCV001289097] |
Chr1:161307259 [GRCh38] Chr1:161277049 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.149_151dup (p.Cys50dup) |
duplication |
not provided [RCV000482306] |
Chr1:161307340..161307341 [GRCh38] Chr1:161277130..161277131 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000456235] |
Chr1:161307279 [GRCh38] Chr1:161277069 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174327]|Charcot-Marie-Tooth disease, type I [RCV000471110] |
Chr1:161306161 [GRCh38] Chr1:161275951 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789446]|Charcot-Marie-Tooth disease, type I [RCV000474970]|Inborn genetic diseases [RCV002436458]|not provided [RCV002473018] |
Chr1:161306878 [GRCh38] Chr1:161276668 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001232283]|not provided [RCV000480282] |
Chr1:161306143 [GRCh38] Chr1:161275933 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV000468928] |
Chr1:161306846..161306851 [GRCh38] Chr1:161276636..161276641 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790071]|not provided [RCV000478575] |
Chr1:161307386 [GRCh38] Chr1:161277176 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.26del (p.Ser9fs) |
deletion |
not provided [RCV000478795] |
Chr1:161309880 [GRCh38] Chr1:161279670 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000461805] |
Chr1:161307296 [GRCh38] Chr1:161277086 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV000986450]|Charcot-Marie-Tooth disease, type I [RCV000465572] |
Chr1:161306855 [GRCh38] Chr1:161276645 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790084]|Charcot-Marie-Tooth disease, type I [RCV000477088] |
Chr1:161306831 [GRCh38] Chr1:161276621 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.317G>A (p.Arg106His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174318]|Charcot-Marie-Tooth disease, type I [RCV000458507]|Inborn genetic diseases [RCV002323749] |
Chr1:161306839 [GRCh38] Chr1:161276629 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.585-2A>T |
single nucleotide variant |
not provided [RCV000498817] |
Chr1:161306170 [GRCh38] Chr1:161275960 [GRCh37] Chr1:1q23.3 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_000530.8(MPZ):c.309G>T (p.Gly103=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001042393]|not provided [RCV000493821] |
Chr1:161306847 [GRCh38] Chr1:161276637 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173700]|Charcot-Marie-Tooth disease, type I [RCV002527111]|not provided [RCV000494031] |
Chr1:161306722 [GRCh38] Chr1:161276512 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789491]|Charcot-Marie-Tooth disease, type I [RCV000541724]|not provided [RCV001508018] |
Chr1:161306815 [GRCh38] Chr1:161276605 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789480]|Charcot-Marie-Tooth disease, type I [RCV000638174] |
Chr1:161307320 [GRCh38] Chr1:161277110 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.448+1G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638180]|not provided [RCV001662685] |
Chr1:161306707 [GRCh38] Chr1:161276497 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.584+10G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638186] |
Chr1:161306319 [GRCh38] Chr1:161276109 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638167] |
Chr1:161307332 [GRCh38] Chr1:161277122 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.277G>C (p.Gly93Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638166] |
Chr1:161306879 [GRCh38] Chr1:161276669 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789483]|Charcot-Marie-Tooth disease, type I [RCV000525582] |
Chr1:161306821 [GRCh38] Chr1:161276611 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.558del (p.Arg186fs) |
deletion |
Dejerine-Sottas disease [RCV000578395]|Neuropathy, congenital hypomyelinating, 2 [RCV001775133] |
Chr1:161306355 [GRCh38] Chr1:161276145 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.600dup (p.Lys201fs) |
duplication |
Inborn genetic diseases [RCV000623978] |
Chr1:161306152..161306153 [GRCh38] Chr1:161275942..161275943 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789717]|Charcot-Marie-Tooth disease, type I [RCV000535579] |
Chr1:161306900 [GRCh38] Chr1:161276690 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.646dup (p.Thr216fs) |
duplication |
Charcot-Marie-Tooth disease, type I [RCV000539811]|not provided [RCV000712319] |
Chr1:161305976..161305977 [GRCh38] Chr1:161275766..161275767 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790058]|Charcot-Marie-Tooth disease type 2I [RCV000995582]|Charcot-Marie-Tooth disease, type I [RCV000558954]|not provided [RCV001093015] |
Chr1:161307389 [GRCh38] Chr1:161277179 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV000638179] |
Chr1:161306749..161306751 [GRCh38] Chr1:161276539..161276541 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.384C>T (p.Asp128=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638185]|Inborn genetic diseases [RCV002358797] |
Chr1:161306772 [GRCh38] Chr1:161276562 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.116A>G (p.His39Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638178] |
Chr1:161307376 [GRCh38] Chr1:161277166 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638159]|Inborn genetic diseases [RCV002424408] |
Chr1:161307278 [GRCh38] Chr1:161277068 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790074]|Charcot-Marie-Tooth disease type 2I [RCV003483698]|Charcot-Marie-Tooth disease, type I [RCV000638153]|Inborn genetic diseases [RCV002528900]|MPZ-related condition [RCV003420112]|not provided [RCV001289099] |
Chr1:161306719..161306722 [GRCh38] Chr1:161276509..161276512 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|not provided |
NM_000530.8(MPZ):c.-34_-17del |
deletion |
not specified [RCV000613071] |
Chr1:161309922..161309939 [GRCh38] Chr1:161279712..161279729 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.270C>G (p.Asp90Glu) |
single nucleotide variant |
not provided [RCV000595596] |
Chr1:161306886 [GRCh38] Chr1:161276676 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.51G>A (p.Leu17=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001474971]|Inborn genetic diseases [RCV002341577]|not provided [RCV000712318]|not specified [RCV000612080] |
Chr1:161309855 [GRCh38] Chr1:161279645 [GRCh37] Chr1:1q23.3 |
benign|likely benign |
NM_000530.8(MPZ):c.215G>T (p.Gly72Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638161] |
Chr1:161307277 [GRCh38] Chr1:161277067 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000638158] |
Chr1:161306893 [GRCh38] Chr1:161276683 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) |
duplication |
Charcot-Marie-Tooth disease, type I [RCV001060274]|not provided [RCV000513141] |
Chr1:161306885..161306886 [GRCh38] Chr1:161276675..161276676 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000691772]|not provided [RCV000712320] |
Chr1:161307419 [GRCh38] Chr1:161277209 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789442]|Charcot-Marie-Tooth disease dominant intermediate D [RCV000664225]|Charcot-Marie-Tooth disease, type I [RCV000701835]|Peripheral neuropathy [RCV001814209] |
Chr1:161306911 [GRCh38] Chr1:161276701 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.691G>C (p.Ala231Pro) |
single nucleotide variant |
not provided [RCV000658531] |
Chr1:161305932 [GRCh38] Chr1:161275722 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.77del (p.Pro26fs) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV000696546]|not provided [RCV000712321] |
Chr1:161307415 [GRCh38] Chr1:161277205 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000686146] |
Chr1:161306383 [GRCh38] Chr1:161276173 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.663A>G (p.Ala221=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002084507]|not provided [RCV002264463] |
Chr1:161305960 [GRCh38] Chr1:161275750 [GRCh37] Chr1:1q23.3 |
likely benign |
GRCh37/hg19 1q23.3(chr1:161224742-161414959)x3 |
copy number gain |
not provided [RCV000684666] |
Chr1:161224742..161414959 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.68-2A>C |
single nucleotide variant |
Peripheral neuropathy [RCV001814362] |
Chr1:161307426 [GRCh38] Chr1:161277216 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001377518]|not provided [RCV000712315] |
Chr1:161306863 [GRCh38] Chr1:161276653 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173693]|Charcot-Marie-Tooth disease, type I [RCV002532930]|Inborn genetic diseases [RCV003165947]|MPZ-Related Disorders [RCV002469277]|not provided [RCV000712316] |
Chr1:161306853 [GRCh38] Chr1:161276643 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.397C>G (p.Pro133Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000701482] |
Chr1:161306759 [GRCh38] Chr1:161276549 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.448G>A (p.Val150Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000704270] |
Chr1:161306708 [GRCh38] Chr1:161276498 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000705483]|Hereditary motor neuron disease [RCV001027481] |
Chr1:161306888 [GRCh38] Chr1:161276678 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000691528]|Inborn genetic diseases [RCV002334293] |
Chr1:161306459 [GRCh38] Chr1:161276249 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.154T>G (p.Phe52Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000689231] |
Chr1:161307338 [GRCh38] Chr1:161277128 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.411C>T (p.Gly137=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000700482]|Dejerine-Sottas disease [RCV000789490] |
Chr1:161306745 [GRCh38] Chr1:161276535 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000687918]|not provided [RCV003317338] |
Chr1:161306371 [GRCh38] Chr1:161276161 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173703]|Charcot-Marie-Tooth disease, type I [RCV000704394]|not provided [RCV001772002] |
Chr1:161306885 [GRCh38] Chr1:161276675 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2J [RCV003152728]|Charcot-Marie-Tooth disease, type I [RCV000693325] |
Chr1:161306758 [GRCh38] Chr1:161276548 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000704816] |
Chr1:161305901 [GRCh38] Chr1:161275691 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789448]|Charcot-Marie-Tooth disease, type I [RCV000690960]|Inborn genetic diseases [RCV002440447] |
Chr1:161306854 [GRCh38] Chr1:161276644 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000705230] |
Chr1:161309896 [GRCh38] Chr1:161279686 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174321]|Charcot-Marie-Tooth disease, type I [RCV000705857]|Inborn genetic diseases [RCV002343564]|not provided [RCV001508016] |
Chr1:161306366 [GRCh38] Chr1:161276156 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.449-63G>A |
single nucleotide variant |
not provided [RCV001547835] |
Chr1:161306527 [GRCh38] Chr1:161276317 [GRCh37] Chr1:1q23.3 |
likely benign |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 |
copy number loss |
not provided [RCV000736717] |
Chr1:159815642..177026983 [GRCh37] Chr1:1q23.2-25.2 |
pathogenic |
NM_000530.8(MPZ):c.646-7C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000874157] |
Chr1:161305984 [GRCh38] Chr1:161275774 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.236T>C (p.Ile79Thr) |
single nucleotide variant |
not provided [RCV000761686] |
Chr1:161306920 [GRCh38] Chr1:161276710 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.254G>C (p.Gly85Ala) |
single nucleotide variant |
not provided [RCV000994157] |
Chr1:161306902 [GRCh38] Chr1:161276692 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV002290727]|Inborn genetic diseases [RCV002324153]|not provided [RCV001584599] |
Chr1:161306844 [GRCh38] Chr1:161276634 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.11:g.(?_161305674)_(161307434_?)del |
deletion |
Charcot-Marie-Tooth disease, type I [RCV001031263] |
Chr1:161275464..161277224 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.114C>G (p.Val38=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001440914] |
Chr1:161307378 [GRCh38] Chr1:161277168 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.551del (p.Leu184fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000857113] |
Chr1:161306362 [GRCh38] Chr1:161276152 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.585-8T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001461769] |
Chr1:161306176 [GRCh38] Chr1:161275966 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.372G>A (p.Thr124=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001475870] |
Chr1:161306784 [GRCh38] Chr1:161276574 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.333_336del (p.Ile112fs) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV001036759] |
Chr1:161306820..161306823 [GRCh38] Chr1:161276610..161276613 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.646-5C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001048051] |
Chr1:161305982 [GRCh38] Chr1:161275772 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001048070] |
Chr1:161307383 [GRCh38] Chr1:161277173 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) |
indel |
Dejerine-Sottas disease [RCV000789476] |
Chr1:161306891..161306898 [GRCh38] Chr1:161276681..161276688 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001060793]|Dejerine-Sottas disease [RCV000790054] |
Chr1:161306749 [GRCh38] Chr1:161276539 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) |
deletion |
Dejerine-Sottas disease [RCV000790118] |
Chr1:161306779..161306784 [GRCh38] Chr1:161276569..161276574 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789420] |
Chr1:161306878 [GRCh38] Chr1:161276668 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789437]|Charcot-Marie-Tooth disease, type I [RCV001224441]|not provided [RCV003130036] |
Chr1:161307331 [GRCh38] Chr1:161277121 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789457]|Charcot-Marie-Tooth disease, type I [RCV002535802]|not provided [RCV001552197] |
Chr1:161306759 [GRCh38] Chr1:161276549 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789458] |
Chr1:161306335 [GRCh38] Chr1:161276125 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789461]|Charcot-Marie-Tooth disease, type I [RCV001377519] |
Chr1:161307403 [GRCh38] Chr1:161277193 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789464] |
Chr1:161307344 [GRCh38] Chr1:161277134 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789622]|not provided [RCV003311888] |
Chr1:161307398 [GRCh38] Chr1:161277188 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789716]|Charcot-Marie-Tooth disease, type I [RCV002536919] |
Chr1:161307288 [GRCh38] Chr1:161277078 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.554del (p.Arg185fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790055] |
Chr1:161306359 [GRCh38] Chr1:161276149 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790065]|Charcot-Marie-Tooth disease, type I [RCV001044115]|not provided [RCV001507502] |
Chr1:161307355..161307362 [GRCh38] Chr1:161277145..161277152 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.560del (p.Gln187fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790076] |
Chr1:161306353 [GRCh38] Chr1:161276143 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.242A>T (p.His81Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790093]|Charcot-Marie-Tooth disease dominant intermediate D [RCV002290042]|Charcot-Marie-Tooth disease, type I [RCV001873225] |
Chr1:161306914 [GRCh38] Chr1:161276704 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790104] |
Chr1:161307283 [GRCh38] Chr1:161277073 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.410G>T (p.Gly137Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790110]|not provided [RCV002473137] |
Chr1:161306746 [GRCh38] Chr1:161276536 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790114]|Charcot-Marie-Tooth disease, type I [RCV001061577]|Inborn genetic diseases [RCV002325494] |
Chr1:161306840 [GRCh38] Chr1:161276630 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790308]|Charcot-Marie-Tooth disease type 1B [RCV002249496]|Charcot-Marie-Tooth disease, type I [RCV001390412] |
Chr1:161307298 [GRCh38] Chr1:161277088 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.431del (p.Leu144fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789477]|Charcot-Marie-Tooth disease, type I [RCV000797748]|MPZ-Related Disorders [RCV000778189] |
Chr1:161306725 [GRCh38] Chr1:161276515 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.550C>G (p.Leu184Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000857114] |
Chr1:161306363 [GRCh38] Chr1:161276153 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.78G>C (p.Pro26=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002540994] |
Chr1:161307414 [GRCh38] Chr1:161277204 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.190_192del (p.Phe64del) |
deletion |
Charcot-Marie-Tooth disease type 1B [RCV003230591]|Dejerine-Sottas disease [RCV000789445] |
Chr1:161307300..161307302 [GRCh38] Chr1:161277090..161277092 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.123_125del (p.Val42del) |
deletion |
Dejerine-Sottas disease [RCV000789683] |
Chr1:161307367..161307369 [GRCh38] Chr1:161277157..161277159 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:161224742-161429290)x3 |
copy number gain |
See cases [RCV002285067] |
Chr1:161224742..161429290 [GRCh37] Chr1:1q23.3 |
pathogenic |
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) |
copy number loss |
not provided [RCV000767779] |
Chr1:160369890..175796325 [GRCh37] Chr1:1q23.2-25.1 |
pathogenic |
NC_000001.10:g.(?_160786670)_(161332233_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV000792787] |
Chr1:160816880..161362443 [GRCh38] Chr1:160786670..161332233 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000801405] |
Chr1:161306375 [GRCh38] Chr1:161276165 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.448+64T>C |
single nucleotide variant |
not provided [RCV000843342] |
Chr1:161306644 [GRCh38] Chr1:161276434 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173704]|Charcot-Marie-Tooth disease, type I [RCV001869373]|not provided [RCV000992319] |
Chr1:161307281 [GRCh38] Chr1:161277071 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro) |
single nucleotide variant |
not provided [RCV000992320] |
Chr1:161306839 [GRCh38] Chr1:161276629 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.655C>T (p.Leu219=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001421599] |
Chr1:161305968 [GRCh38] Chr1:161275758 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.394C>T (p.Pro132Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000818403] |
Chr1:161306762 [GRCh38] Chr1:161276552 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.417C>T (p.Thr139=) |
single nucleotide variant |
not provided [RCV000994154] |
Chr1:161306739 [GRCh38] Chr1:161276529 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.67+111A>G |
single nucleotide variant |
not provided [RCV000826417] |
Chr1:161309728 [GRCh38] Chr1:161279518 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.646-5C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000797031]|Inborn genetic diseases [RCV002534615] |
Chr1:161305982 [GRCh38] Chr1:161275772 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV000787935] |
Chr1:161306758 [GRCh38] Chr1:161276548 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789447] |
Chr1:161306725 [GRCh38] Chr1:161276515 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789462]|Charcot-Marie-Tooth disease, type I [RCV001856238] |
Chr1:161307394 [GRCh38] Chr1:161277184 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789468]|Inborn genetic diseases [RCV002334462] |
Chr1:161306451 [GRCh38] Chr1:161276241 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789470] |
Chr1:161306754 [GRCh38] Chr1:161276544 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.149_151del (p.Cys50del) |
deletion |
Charcot-Marie-Tooth disease [RCV000789475] |
Chr1:161307341..161307343 [GRCh38] Chr1:161277131..161277133 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs) |
indel |
Charcot-Marie-Tooth disease [RCV000789489]|Neuropathy, congenital hypomyelinating, 2 [RCV002279942] |
Chr1:161306361..161306363 [GRCh38] Chr1:161276151..161276153 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.235-1G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789705] |
Chr1:161306922 [GRCh38] Chr1:161276712 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790053] |
Chr1:161306791 [GRCh38] Chr1:161276581 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790059] |
Chr1:161307349 [GRCh38] Chr1:161277139 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790067] |
Chr1:161305917 [GRCh38] Chr1:161275707 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.243C>G (p.His81Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790069] |
Chr1:161306913 [GRCh38] Chr1:161276703 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.68-5_71del |
deletion |
Charcot-Marie-Tooth disease [RCV000790072] |
Chr1:161307421..161307429 [GRCh38] Chr1:161277211..161277219 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.560_566del (p.Gln187fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790092] |
Chr1:161306347..161306353 [GRCh38] Chr1:161276137..161276143 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790105] |
Chr1:161307298 [GRCh38] Chr1:161277088 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.136G>A (p.Val46Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790307]|Charcot-Marie-Tooth disease, type I [RCV001061796] |
Chr1:161307356 [GRCh38] Chr1:161277146 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790310] |
Chr1:161305887 [GRCh38] Chr1:161275677 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.45T>G (p.Ala15=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790311] |
Chr1:161309861 [GRCh38] Chr1:161279651 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr) |
single nucleotide variant |
Dejerine-Sottas disease [RCV000790109] |
Chr1:161305962 [GRCh38] Chr1:161275752 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 |
copy number loss |
not provided [RCV000848773] |
Chr1:157321299..167391423 [GRCh37] Chr1:1q23.1-24.2 |
pathogenic |
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789421] |
Chr1:161306746 [GRCh38] Chr1:161276536 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.626_630del (p.Ala209fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789422] |
Chr1:161306123..161306127 [GRCh38] Chr1:161275913..161275917 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789433]|Charcot-Marie-Tooth disease dominant intermediate D [RCV001729703]|Charcot-Marie-Tooth disease type 2I [RCV002290039]|Charcot-Marie-Tooth disease, type I [RCV002536916] |
Chr1:161309847 [GRCh38] Chr1:161279637 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789444] |
Chr1:161306773 [GRCh38] Chr1:161276563 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789450]|Charcot-Marie-Tooth disease dominant intermediate D [RCV003152732]|Charcot-Marie-Tooth disease, type I [RCV002535801]|not provided [RCV001093011] |
Chr1:161305942 [GRCh38] Chr1:161275732 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789451] |
Chr1:161306755 [GRCh38] Chr1:161276545 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789459] |
Chr1:161305881 [GRCh38] Chr1:161275671 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.553del (p.Arg185fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789463] |
Chr1:161306360 [GRCh38] Chr1:161276150 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789495] |
Chr1:161306864 [GRCh38] Chr1:161276654 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789453] |
Chr1:161306740 [GRCh38] Chr1:161276530 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.128G>T (p.Gly43Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789454] |
Chr1:161307364 [GRCh38] Chr1:161277154 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789456] |
Chr1:161307342 [GRCh38] Chr1:161277132 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789482] |
Chr1:161306761 [GRCh38] Chr1:161276551 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.346A>C (p.Asn116His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789492] |
Chr1:161306810 [GRCh38] Chr1:161276600 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789494] |
Chr1:161306765 [GRCh38] Chr1:161276555 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del) |
deletion |
Charcot-Marie-Tooth disease [RCV000789689] |
Chr1:161306774..161306788 [GRCh38] Chr1:161276564..161276578 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.449-1G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790056] |
Chr1:161306465 [GRCh38] Chr1:161276255 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790066] |
Chr1:161306804 [GRCh38] Chr1:161276594 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790085]|Charcot-Marie-Tooth disease, type I [RCV001869230] |
Chr1:161307281 [GRCh38] Chr1:161277071 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790097] |
Chr1:161306911 [GRCh38] Chr1:161276701 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.223del (p.Asp75fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790103] |
Chr1:161307269 [GRCh38] Chr1:161277059 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.436G>T (p.Val146Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790106] |
Chr1:161306720 [GRCh38] Chr1:161276510 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790121] |
Chr1:161306137 [GRCh38] Chr1:161275927 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790061] |
Chr1:161306762 [GRCh38] Chr1:161276552 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790062] |
Chr1:161306728 [GRCh38] Chr1:161276518 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.290_293del (p.Glu97fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790064] |
Chr1:161306863..161306866 [GRCh38] Chr1:161276653..161276656 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.449-1G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790068] |
Chr1:161306465 [GRCh38] Chr1:161276255 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.570del (p.Gln191fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790080] |
Chr1:161306343 [GRCh38] Chr1:161276133 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.449-1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790086] |
Chr1:161306465 [GRCh38] Chr1:161276255 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790089]|Charcot-Marie-Tooth disease, type I [RCV002535812]|Roussy-Lévy syndrome [RCV001198086] |
Chr1:161307319 [GRCh38] Chr1:161277109 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.405A>G (p.Ile135Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790091] |
Chr1:161306751 [GRCh38] Chr1:161276541 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790101] |
Chr1:161306772 [GRCh38] Chr1:161276562 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000791502] |
Chr1:161306846 [GRCh38] Chr1:161276636 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.585-7_585-5del |
microsatellite |
Charcot-Marie-Tooth disease, type I [RCV002549794]|Inborn genetic diseases [RCV002354900]|not provided [RCV000992321] |
Chr1:161306173..161306175 [GRCh38] Chr1:161275963..161275965 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV001353168]|Charcot-Marie-Tooth disease, type I [RCV000814912] |
Chr1:161306794 [GRCh38] Chr1:161276584 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.532G>C (p.Val178Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000819085] |
Chr1:161306381 [GRCh38] Chr1:161276171 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.68-1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000811587]|Inborn genetic diseases [RCV003380742]|not provided [RCV001507503] |
Chr1:161307425 [GRCh38] Chr1:161277215 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.68-3C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174316]|Charcot-Marie-Tooth disease, type I [RCV000793272]|not provided [RCV003482306] |
Chr1:161307427 [GRCh38] Chr1:161277217 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:161257930-161344485)x3 |
copy number gain |
not provided [RCV000846252] |
Chr1:161257930..161344485 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.67+272C>A |
single nucleotide variant |
not provided [RCV000828664] |
Chr1:161309567 [GRCh38] Chr1:161279357 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002536917]|Dejerine-Sottas disease [RCV000789474] |
Chr1:161306776 [GRCh38] Chr1:161276566 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.661_662dup (p.Met222fs) |
duplication |
Dejerine-Sottas disease [RCV000790111] |
Chr1:161305960..161305961 [GRCh38] Chr1:161275750..161275751 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.522_525del (p.Leu175fs) |
deletion |
Dejerine-Sottas disease [RCV000790302] |
Chr1:161306388..161306391 [GRCh38] Chr1:161276178..161276181 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.637G>A (p.Gly213Arg) |
single nucleotide variant |
Neuropathy, congenital hypomyelinating, 2 [RCV000791124]|not provided [RCV002261203] |
Chr1:161306116 [GRCh38] Chr1:161275906 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000824269] |
Chr1:161306744 [GRCh38] Chr1:161276534 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789430] |
Chr1:161306827 [GRCh38] Chr1:161276617 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.449-9C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789449]|Charcot-Marie-Tooth disease type 1B [RCV003126936]|Charcot-Marie-Tooth disease, type I [RCV002061138] |
Chr1:161306473 [GRCh38] Chr1:161276263 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789455]|Charcot-Marie-Tooth disease, type I [RCV001231857] |
Chr1:161307350 [GRCh38] Chr1:161277140 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789466] |
Chr1:161307265 [GRCh38] Chr1:161277055 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789469] |
Chr1:161306370 [GRCh38] Chr1:161276160 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789473]|Charcot-Marie-Tooth disease, type I [RCV000812847] |
Chr1:161306860 [GRCh38] Chr1:161276650 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789493] |
Chr1:161306789 [GRCh38] Chr1:161276579 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789498] |
Chr1:161306735 [GRCh38] Chr1:161276525 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.645+2dup |
duplication |
Charcot-Marie-Tooth disease [RCV000789684] |
Chr1:161306104..161306105 [GRCh38] Chr1:161275894..161275895 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789715]|not provided [RCV001662819] |
Chr1:161307295 [GRCh38] Chr1:161277085 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790060] |
Chr1:161306849 [GRCh38] Chr1:161276639 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.486del (p.Ile162fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790075]|Charcot-Marie-Tooth disease, type I [RCV001040610]|Intellectual disability [RCV000850194] |
Chr1:161306427 [GRCh38] Chr1:161276217 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790087]|MPZ-Related Disorders [RCV003317367] |
Chr1:161306853 [GRCh38] Chr1:161276643 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790096] |
Chr1:161306786 [GRCh38] Chr1:161276576 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790098]|Charcot-Marie-Tooth disease, type I [RCV000813380] |
Chr1:161306774 [GRCh38] Chr1:161276564 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.368G>T (p.Gly123Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790107] |
Chr1:161306788 [GRCh38] Chr1:161276578 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.396_397del (p.Pro133fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790112] |
Chr1:161306759..161306760 [GRCh38] Chr1:161276549..161276550 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790123] |
Chr1:161305944 [GRCh38] Chr1:161275734 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.159G>A (p.Trp53Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000793801] |
Chr1:161307333 [GRCh38] Chr1:161277123 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.6(MPZ):c.-187T>C |
single nucleotide variant |
not provided [RCV000843341] |
Chr1:161310092 [GRCh38] Chr1:161279882 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.448+122C>T |
single nucleotide variant |
not provided [RCV000843343] |
Chr1:161306586 [GRCh38] Chr1:161276376 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.574_575del (p.Arg192fs) |
microsatellite |
Charcot-Marie-Tooth disease [RCV000789428] |
Chr1:161306338..161306339 [GRCh38] Chr1:161276128..161276129 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789435]|Charcot-Marie-Tooth disease type 1B [RCV002249492] |
Chr1:161307391 [GRCh38] Chr1:161277181 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789472] |
Chr1:161307361 [GRCh38] Chr1:161277151 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.1A>G (p.Met1Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789714]|Charcot-Marie-Tooth disease, type I [RCV001323341]|not provided [RCV002225729] |
Chr1:161309905 [GRCh38] Chr1:161279695 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.437T>G (p.Val146Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790063] |
Chr1:161306719 [GRCh38] Chr1:161276509 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790081]|Charcot-Marie-Tooth disease, type I [RCV001364436]|Inborn genetic diseases [RCV002397561]|not provided [RCV001268254] |
Chr1:161307326 [GRCh38] Chr1:161277116 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790088]|Charcot-Marie-Tooth disease, type I [RCV001869231] |
Chr1:161307284 [GRCh38] Chr1:161277074 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790094]|Charcot-Marie-Tooth disease, type I [RCV001233191] |
Chr1:161306721 [GRCh38] Chr1:161276511 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790100]|Charcot-Marie-Tooth disease, type I [RCV001385506] |
Chr1:161306764 [GRCh38] Chr1:161276554 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790108] |
Chr1:161305944 [GRCh38] Chr1:161275734 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790113]|Charcot-Marie-Tooth disease, type I [RCV001339129] |
Chr1:161306814 [GRCh38] Chr1:161276604 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790117] |
Chr1:161306829 [GRCh38] Chr1:161276619 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790122] |
Chr1:161306824 [GRCh38] Chr1:161276614 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790124]|Charcot-Marie-Tooth disease, type I [RCV002536920]|not provided [RCV000994158] |
Chr1:161307293 [GRCh38] Chr1:161277083 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789427] |
Chr1:161307332 [GRCh38] Chr1:161277122 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789443]|Charcot-Marie-Tooth disease, type I [RCV001856237] |
Chr1:161307292 [GRCh38] Chr1:161277082 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789452] |
Chr1:161306742 [GRCh38] Chr1:161276532 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.-10_-6dup |
duplication |
Charcot-Marie-Tooth disease [RCV000789478] |
Chr1:161309910..161309911 [GRCh38] Chr1:161279700..161279701 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789481] |
Chr1:161307289 [GRCh38] Chr1:161277079 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789488] |
Chr1:161307349 [GRCh38] Chr1:161277139 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.201C>T (p.Arg67=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV000920361] |
Chr1:161307291 [GRCh38] Chr1:161277081 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.184A>G (p.Ile62Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001099393]|Charcot-Marie-Tooth disease type 1B [RCV001099396]|Neuropathy, congenital hypomyelinating, 2 [RCV001099394]|Roussy-Lévy syndrome [RCV001099395] |
Chr1:161307308 [GRCh38] Chr1:161277098 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.11:g.(?_161305674)_(161309915_?)dup |
duplication |
Charcot-Marie-Tooth disease, type I [RCV001031032] |
Chr1:161275464..161279705 [GRCh37] Chr1:1q23.3 |
pathogenic |
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 |
copy number gain |
not provided [RCV000849025] |
Chr1:160744174..162583871 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:161213062-161437757)x3 |
copy number gain |
not provided [RCV000849990] |
Chr1:161213062..161437757 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3 |
copy number gain |
not provided [RCV000848107] |
Chr1:161134612..161422225 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.699_702del (p.Ser233fs) |
deletion |
Inborn genetic diseases [RCV003160168]|not provided [RCV001008812] |
Chr1:161305921..161305924 [GRCh38] Chr1:161275711..161275714 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NC_000001.11:g.(?_160816880)_(161362518_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001031279] |
Chr1:160786670..161332308 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.174C>T (p.Val58=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174329] |
Chr1:161307318 [GRCh38] Chr1:161277108 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174322]|Charcot-Marie-Tooth disease, type I [RCV001873638] |
Chr1:161306141 [GRCh38] Chr1:161275931 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.645+10A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174334]|Charcot-Marie-Tooth disease, type I [RCV002559672] |
Chr1:161306098 [GRCh38] Chr1:161275888 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.162C>A (p.Ser54=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001203252] |
Chr1:161307330 [GRCh38] Chr1:161277120 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.431_433del (p.Leu144_Tyr145delinsHis) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV001220495] |
Chr1:161306723..161306725 [GRCh38] Chr1:161276513..161276515 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.407T>G (p.Val136Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001237700] |
Chr1:161306749 [GRCh38] Chr1:161276539 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.20C>G (p.Ser7Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001210626] |
Chr1:161309886 [GRCh38] Chr1:161279676 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.103G>C (p.Asp35His) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001200043] |
Chr1:161307389 [GRCh38] Chr1:161277179 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.235-1G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001204567]|not provided [RCV001532562] |
Chr1:161306922 [GRCh38] Chr1:161276712 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.164G>A (p.Ser55Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003249421] |
Chr1:161307328 [GRCh38] Chr1:161277118 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs) |
indel |
not provided [RCV001008332] |
Chr1:161306136..161306138 [GRCh38] Chr1:161275926..161275928 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.235-166C>T |
single nucleotide variant |
not provided [RCV001562533] |
Chr1:161307087 [GRCh38] Chr1:161276877 [GRCh37] Chr1:1q23.3 |
likely benign |
NC_000001.11:g.161304658G>C |
single nucleotide variant |
not provided [RCV001654424] |
Chr1:161304658 [GRCh38] Chr1:161274448 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) |
single nucleotide variant |
not provided [RCV001665496] |
Chr1:161307269 [GRCh38] Chr1:161277059 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.646-29G>C |
single nucleotide variant |
not provided [RCV001718492] |
Chr1:161306006 [GRCh38] Chr1:161275796 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.649C>G (p.Pro217Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001035129] |
Chr1:161305974 [GRCh38] Chr1:161275764 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.584+3A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001245066] |
Chr1:161306326 [GRCh38] Chr1:161276116 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*522C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001099177]|Charcot-Marie-Tooth disease type 1B [RCV001099176]|Neuropathy, congenital hypomyelinating, 2 [RCV001099175]|Roussy-Lévy syndrome [RCV001099178] |
Chr1:161305354 [GRCh38] Chr1:161275144 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001216570] |
Chr1:161306893 [GRCh38] Chr1:161276683 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.382G>C (p.Asp128His) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001237277] |
Chr1:161306774 [GRCh38] Chr1:161276564 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.113T>A (p.Val38Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001066303] |
Chr1:161307379 [GRCh38] Chr1:161277169 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001095839]|Charcot-Marie-Tooth disease type 1B [RCV001095840]|Neuropathy, congenital hypomyelinating, 2 [RCV001095837]|Roussy-Lévy syndrome [RCV001095838] |
Chr1:161306712 [GRCh38] Chr1:161276502 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.491dup (p.Val165fs) |
duplication |
Charcot-Marie-Tooth disease, type I [RCV001220841] |
Chr1:161306421..161306422 [GRCh38] Chr1:161276211..161276212 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.325G>C (p.Asp109His) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001067101] |
Chr1:161306831 [GRCh38] Chr1:161276621 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173696] |
Chr1:161306364 [GRCh38] Chr1:161276154 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.392dup (p.Asn131fs) |
duplication |
Roussy-Lévy syndrome [RCV001197014] |
Chr1:161306763..161306764 [GRCh38] Chr1:161276553..161276554 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.738T>C (p.Asp246=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001396703] |
Chr1:161305885 [GRCh38] Chr1:161275675 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.585-5T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001461746] |
Chr1:161306173 [GRCh38] Chr1:161275963 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.648G>T (p.Thr216=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001446185] |
Chr1:161305975 [GRCh38] Chr1:161275765 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.102C>T (p.Thr34=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002066352] |
Chr1:161307390 [GRCh38] Chr1:161277180 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.654G>A (p.Val218=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001493520] |
Chr1:161305969 [GRCh38] Chr1:161275759 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.260C>A (p.Pro87His) |
single nucleotide variant |
not provided [RCV000994156] |
Chr1:161306896 [GRCh38] Chr1:161276686 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3 |
copy number gain |
not provided [RCV001005146] |
Chr1:161134675..161652307 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.275T>A (p.Val92Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001066588] |
Chr1:161306881 [GRCh38] Chr1:161276671 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.67+287del |
deletion |
not provided [RCV001540307] |
Chr1:161309552 [GRCh38] Chr1:161279342 [GRCh37] Chr1:1q23.3 |
benign |
NM_000530.8(MPZ):c.505G>T (p.Val169Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001050154]|Inborn genetic diseases [RCV002553216] |
Chr1:161306408 [GRCh38] Chr1:161276198 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174317] |
Chr1:161306837 [GRCh38] Chr1:161276627 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174323] |
Chr1:161305964 [GRCh38] Chr1:161275754 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174326] |
Chr1:161307343 [GRCh38] Chr1:161277133 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*1C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174330] |
Chr1:161305875 [GRCh38] Chr1:161275665 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001856276]|not provided [RCV001093012] |
Chr1:161306795 [GRCh38] Chr1:161276585 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.270C>T (p.Asp90=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002554861]|not provided [RCV001093013] |
Chr1:161306886 [GRCh38] Chr1:161276676 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.67+285_67+286insT |
insertion |
not provided [RCV001587500] |
Chr1:161309553..161309554 [GRCh38] Chr1:161279343..161279344 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.*435T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001099180]|Charcot-Marie-Tooth disease type 1B [RCV001099182]|Neuropathy, congenital hypomyelinating, 2 [RCV001099179]|Roussy-Lévy syndrome [RCV001099181] |
Chr1:161305441 [GRCh38] Chr1:161275231 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.112del (p.Val38fs) |
deletion |
not provided [RCV001682637] |
Chr1:161307380 [GRCh38] Chr1:161277170 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001035263] |
Chr1:161306755 [GRCh38] Chr1:161276545 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) |
microsatellite |
Charcot-Marie-Tooth disease [RCV001173694]|Charcot-Marie-Tooth disease, type I [RCV002558758]|not provided [RCV001664729] |
Chr1:161307291..161307292 [GRCh38] Chr1:161277081..161277082 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173702]|Charcot-Marie-Tooth disease, type I [RCV001225050] |
Chr1:161305919 [GRCh38] Chr1:161275709 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173701] |
Chr1:161306362 [GRCh38] Chr1:161276152 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.603dup (p.Leu202fs) |
duplication |
Roussy-Lévy syndrome [RCV001198226] |
Chr1:161306149..161306150 [GRCh38] Chr1:161275939..161275940 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV003152749]|Charcot-Marie-Tooth disease, type I [RCV001068529] |
Chr1:161306753 [GRCh38] Chr1:161276543 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.95T>G (p.Val32Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001042363] |
Chr1:161307397 [GRCh38] Chr1:161277187 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*102C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001097526]|Charcot-Marie-Tooth disease type 1B [RCV001097525]|Neuropathy, congenital hypomyelinating, 2 [RCV001097527]|Roussy-Lévy syndrome [RCV001097524] |
Chr1:161305774 [GRCh38] Chr1:161275564 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*341A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001097432]|Charcot-Marie-Tooth disease type 1B [RCV001097433]|Neuropathy, congenital hypomyelinating, 2 [RCV001097431]|Roussy-Lévy syndrome [RCV001097430] |
Chr1:161305535 [GRCh38] Chr1:161275325 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.42G>A (p.Leu14=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174333]|not provided [RCV001311660] |
Chr1:161309864 [GRCh38] Chr1:161279654 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001247867] |
Chr1:161305878 [GRCh38] Chr1:161275668 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174320] |
Chr1:161306344 [GRCh38] Chr1:161276134 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174324] |
Chr1:161307284 [GRCh38] Chr1:161277074 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174325] |
Chr1:161306810 [GRCh38] Chr1:161276600 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.531C>T (p.Tyr177=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174332]|not provided [RCV003405366] |
Chr1:161306382 [GRCh38] Chr1:161276172 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001041106]|not provided [RCV001805988] |
Chr1:161305923 [GRCh38] Chr1:161275713 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.67+5G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001202787] |
Chr1:161309834 [GRCh38] Chr1:161279624 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001059747] |
Chr1:161306897 [GRCh38] Chr1:161276687 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001063999] |
Chr1:161306824 [GRCh38] Chr1:161276614 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.448+2T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173699] |
Chr1:161306706 [GRCh38] Chr1:161276496 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.*903G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001100822]|Charcot-Marie-Tooth disease type 1B [RCV001100824]|Neuropathy, congenital hypomyelinating, 2 [RCV001100823]|Roussy-Lévy syndrome [RCV001100821] |
Chr1:161304973 [GRCh38] Chr1:161274763 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*752G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001101074]|Charcot-Marie-Tooth disease type 1B [RCV001101072]|Neuropathy, congenital hypomyelinating, 2 [RCV001101071]|Roussy-Lévy syndrome [RCV001101073] |
Chr1:161305124 [GRCh38] Chr1:161274914 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*369C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001101176]|Charcot-Marie-Tooth disease type 1B [RCV001101177]|Neuropathy, congenital hypomyelinating, 2 [RCV001101175]|Roussy-Lévy syndrome [RCV001101174] |
Chr1:161305507 [GRCh38] Chr1:161275297 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.*360C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001101181]|Charcot-Marie-Tooth disease type 1B [RCV001101179]|Neuropathy, congenital hypomyelinating, 2 [RCV001101178]|Roussy-Lévy syndrome [RCV001101180]|not provided [RCV001847156] |
Chr1:161305516 [GRCh38] Chr1:161275306 [GRCh37] Chr1:1q23.3 |
benign|likely benign|uncertain significance |
NM_000530.8(MPZ):c.91G>A (p.Val31Met) |
single nucleotide variant |
not provided [RCV001093016] |
Chr1:161307401 [GRCh38] Chr1:161277191 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.646-3C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001058977]|not specified [RCV001002395] |
Chr1:161305980 [GRCh38] Chr1:161275770 [GRCh37] Chr1:1q23.3 |
pathogenic|uncertain significance |
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001037786] |
Chr1:161306716 [GRCh38] Chr1:161276506 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.234G>A (p.Ser78=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV003482910]|Charcot-Marie-Tooth disease, type I [RCV001231540]|Dejerine-Sottas disease [RCV001329968]|Inborn genetic diseases [RCV002447158] |
Chr1:161307258 [GRCh38] Chr1:161277048 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV003224529]|Charcot-Marie-Tooth disease, type I [RCV001215918] |
Chr1:161306853 [GRCh38] Chr1:161276643 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001214802] |
Chr1:161306899 [GRCh38] Chr1:161276689 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001253640] |
Chr1:161307365 [GRCh38] Chr1:161277155 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_000530.8(MPZ):c.*4T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV001331963] |
Chr1:161305872 [GRCh38] Chr1:161275662 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001350133]|not provided [RCV002473277] |
Chr1:161307404 [GRCh38] Chr1:161277194 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.646-2A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002538398]|not provided [RCV001291549] |
Chr1:161305979 [GRCh38] Chr1:161275769 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.412A>C (p.Lys138Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001317161] |
Chr1:161306744 [GRCh38] Chr1:161276534 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.645G>A (p.Gln215=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001302269] |
Chr1:161306108 [GRCh38] Chr1:161275898 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.108G>C (p.Arg36Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001309652] |
Chr1:161307384 [GRCh38] Chr1:161277174 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.486C>G (p.Ile162Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001308866] |
Chr1:161306427 [GRCh38] Chr1:161276217 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.171G>A (p.Trp57Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001382906] |
Chr1:161307321 [GRCh38] Chr1:161277111 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.362A>C (p.Asp121Ala) |
single nucleotide variant |
not provided [RCV001289098] |
Chr1:161306794 [GRCh38] Chr1:161276584 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.216G>C (p.Gly72=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001433455] |
Chr1:161307276 [GRCh38] Chr1:161277066 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.49C>T (p.Leu17=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001422397] |
Chr1:161309857 [GRCh38] Chr1:161279647 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.345del (p.His115fs) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV001382904] |
Chr1:161306811 [GRCh38] Chr1:161276601 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.217G>T (p.Gly73Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001315212] |
Chr1:161307275 [GRCh38] Chr1:161277065 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.364A>G (p.Asn122Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001313103] |
Chr1:161306792 [GRCh38] Chr1:161276582 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.437T>C (p.Val146Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001349555] |
Chr1:161306719 [GRCh38] Chr1:161276509 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.529T>A (p.Tyr177Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001306212] |
Chr1:161306384 [GRCh38] Chr1:161276174 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.107G>A (p.Arg36Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001341827] |
Chr1:161307385 [GRCh38] Chr1:161277175 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.326A>G (p.Asp109Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001339692] |
Chr1:161306830 [GRCh38] Chr1:161276620 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.377C>G (p.Thr126Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001308662] |
Chr1:161306779 [GRCh38] Chr1:161276569 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.382G>T (p.Asp128Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001374046] |
Chr1:161306774 [GRCh38] Chr1:161276564 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.311A>G (p.Asp104Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001309149] |
Chr1:161306845 [GRCh38] Chr1:161276635 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.391A>C (p.Asn131His) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001316406] |
Chr1:161306765 [GRCh38] Chr1:161276555 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001307482]|Inborn genetic diseases [RCV002384380] |
Chr1:161307358 [GRCh38] Chr1:161277148 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.67+4A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001361126]|Inborn genetic diseases [RCV002368168] |
Chr1:161309835 [GRCh38] Chr1:161279625 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.305T>A (p.Val102Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001365711] |
Chr1:161306851 [GRCh38] Chr1:161276641 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.243C>T (p.His81=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001488061] |
Chr1:161306913 [GRCh38] Chr1:161276703 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.646-2A>C |
single nucleotide variant |
Peripheral neuropathy [RCV001541897] |
Chr1:161305979 [GRCh38] Chr1:161275769 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.638_639del (p.Gly213fs) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV001390456] |
Chr1:161306114..161306115 [GRCh38] Chr1:161275904..161275905 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.448+2T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001379624] |
Chr1:161306706 [GRCh38] Chr1:161276496 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.597G>A (p.Lys199=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001464741] |
Chr1:161306156 [GRCh38] Chr1:161275946 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.449-10C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001468970] |
Chr1:161306474 [GRCh38] Chr1:161276264 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.216G>A (p.Gly72=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001481578] |
Chr1:161307276 [GRCh38] Chr1:161277066 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.429G>T (p.Thr143=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001483359] |
Chr1:161306727 [GRCh38] Chr1:161276517 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV002246358]|Charcot-Marie-Tooth disease, type I [RCV001378760] |
Chr1:161306879 [GRCh38] Chr1:161276669 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.401A>T (p.Asp134Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV002250120] |
Chr1:161306755 [GRCh38] Chr1:161276545 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.231T>G (p.Ile77Met) |
single nucleotide variant |
not provided [RCV001757976] |
Chr1:161307261 [GRCh38] Chr1:161277051 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:161279433-161385237)x1 |
copy number loss |
not provided [RCV001795857] |
Chr1:161279433..161385237 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.692C>A (p.Ala231Asp) |
single nucleotide variant |
not provided [RCV001752134] |
Chr1:161305931 [GRCh38] Chr1:161275721 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.675C>A (p.His225Gln) |
single nucleotide variant |
not provided [RCV001774060] |
Chr1:161305948 [GRCh38] Chr1:161275738 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.130T>C (p.Ser44Pro) |
single nucleotide variant |
Motor neuron disease [RCV001795878] |
Chr1:161307362 [GRCh38] Chr1:161277152 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002008595] |
Chr1:161306843 [GRCh38] Chr1:161276633 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:161207984-161404272) |
copy number gain |
not specified [RCV002053669] |
Chr1:161207984..161404272 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.424del (p.Val142fs) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV001929065] |
Chr1:161306732 [GRCh38] Chr1:161276522 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.691G>A (p.Ala231Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001863847] |
Chr1:161305932 [GRCh38] Chr1:161275722 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.136G>C (p.Val46Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001890814] |
Chr1:161307356 [GRCh38] Chr1:161277146 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.386T>G (p.Val129Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002005361] |
Chr1:161306770 [GRCh38] Chr1:161276560 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.295A>C (p.Ile99Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001984431] |
Chr1:161306861 [GRCh38] Chr1:161276651 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.37A>G (p.Ile13Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002042902] |
Chr1:161309869 [GRCh38] Chr1:161279659 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.448+12G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002040680] |
Chr1:161306696 [GRCh38] Chr1:161276486 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.156C>G (p.Phe52Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001966876] |
Chr1:161307336 [GRCh38] Chr1:161277126 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3 |
copy number gain |
not provided [RCV001829131] |
Chr1:160859558..161409185 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) |
copy number loss |
not specified [RCV002053658] |
Chr1:160417296..166197042 [GRCh37] Chr1:1q23.2-24.1 |
pathogenic |
NM_000530.8(MPZ):c.278G>T (p.Gly93Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001894101] |
Chr1:161306878 [GRCh38] Chr1:161276668 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.466G>T (p.Val156Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002024471] |
Chr1:161306447 [GRCh38] Chr1:161276237 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.345C>A (p.His115Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001907330] |
Chr1:161306811 [GRCh38] Chr1:161276601 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.703A>G (p.Lys235Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001977025] |
Chr1:161305920 [GRCh38] Chr1:161275710 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.350T>C (p.Leu117Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001961092] |
Chr1:161306806 [GRCh38] Chr1:161276596 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.498C>A (p.Leu166=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001924918] |
Chr1:161306415 [GRCh38] Chr1:161276205 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.16C>T (p.Pro6Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001937333] |
Chr1:161309890 [GRCh38] Chr1:161279680 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.10:g.(?_158581054)_(162750036_?)dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] |
Chr1:158581054..162750036 [GRCh37] Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
NM_000530.8(MPZ):c.571C>T (p.Gln191Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001989844] |
Chr1:161306342 [GRCh38] Chr1:161276132 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.683G>A (p.Ser228Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001977983] |
Chr1:161305940 [GRCh38] Chr1:161275730 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.101C>G (p.Thr34Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001915828] |
Chr1:161307391 [GRCh38] Chr1:161277181 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.323del (p.Lys108fs) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV001954621] |
Chr1:161306833 [GRCh38] Chr1:161276623 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.230T>C (p.Ile77Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002017329] |
Chr1:161307262 [GRCh38] Chr1:161277052 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.10:g.(?_161275666)_(161332223_?)dup |
duplication |
Charcot-Marie-Tooth disease, type I [RCV001956318] |
Chr1:161275666..161332223 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.234+16A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001925511] |
Chr1:161307242 [GRCh38] Chr1:161277032 [GRCh37] Chr1:1q23.3 |
likely benign|uncertain significance |
NM_000530.8(MPZ):c.589A>G (p.Met197Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001935733] |
Chr1:161306164 [GRCh38] Chr1:161275954 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.566C>T (p.Ala189Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001898240] |
Chr1:161306347 [GRCh38] Chr1:161276137 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.350T>G (p.Leu117Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002030214] |
Chr1:161306806 [GRCh38] Chr1:161276596 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.232T>C (p.Ser78Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV001990442] |
Chr1:161307260 [GRCh38] Chr1:161277050 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.253G>A (p.Gly85Arg) |
single nucleotide variant |
not provided [RCV002211120] |
Chr1:161306903 [GRCh38] Chr1:161276693 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.585-12C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002109070] |
Chr1:161306180 [GRCh38] Chr1:161275970 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.279G>A (p.Gly93=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002130270] |
Chr1:161306877 [GRCh38] Chr1:161276667 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.448+10G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002076290] |
Chr1:161306698 [GRCh38] Chr1:161276488 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.297C>A (p.Ile99=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002153639] |
Chr1:161306859 [GRCh38] Chr1:161276649 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.585-19G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002214657] |
Chr1:161306187 [GRCh38] Chr1:161275977 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.543C>T (p.Tyr181=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002116936] |
Chr1:161306370 [GRCh38] Chr1:161276160 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.335T>G (p.Ile112Ser) |
single nucleotide variant |
not provided [RCV002211119] |
Chr1:161306821 [GRCh38] Chr1:161276611 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.333C>T (p.Ser111=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002076469] |
Chr1:161306823 [GRCh38] Chr1:161276613 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.168G>A (p.Glu56=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002173865] |
Chr1:161307324 [GRCh38] Chr1:161277114 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.449-2A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV002249103] |
Chr1:161306466 [GRCh38] Chr1:161276256 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.112G>T (p.Val38Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV002221381] |
Chr1:161307380 [GRCh38] Chr1:161277170 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.67+10G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002184815] |
Chr1:161309829 [GRCh38] Chr1:161279619 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.448+17G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002184485] |
Chr1:161306691 [GRCh38] Chr1:161276481 [GRCh37] Chr1:1q23.3 |
likely benign |
NC_000001.10:g.(?_161275666)_(161279695_?)del |
deletion |
Charcot-Marie-Tooth disease, type I [RCV003111374] |
Chr1:161275666..161279695 [GRCh37] Chr1:1q23.3 |
pathogenic |
NC_000001.10:g.(?_161279609)_(161751809_?)dup |
duplication |
Charcot-Marie-Tooth disease, type I [RCV003111375] |
Chr1:161279609..161751809 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV003234830] |
Chr1:161306450 [GRCh38] Chr1:161276240 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.29C>T (p.Pro10Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002435605] |
Chr1:161309877 [GRCh38] Chr1:161279667 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.10:g.(161277215_161279628)_(161279763_?)dup |
duplication |
not specified [RCV003236450] |
Chr1:161279628..161279763 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.585-2A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV002290418] |
Chr1:161306170 [GRCh38] Chr1:161275960 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.448+1G>A |
single nucleotide variant |
not provided [RCV003231751] |
Chr1:161306707 [GRCh38] Chr1:161276497 [GRCh37] Chr1:1q23.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 1q23.3(chr1:161216755-161409359)x3 |
copy number gain |
not provided [RCV002291531] |
Chr1:161216755..161409359 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.50T>G (p.Leu17Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002351487] |
Chr1:161309856 [GRCh38] Chr1:161279646 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.301dup (p.Trp101fs) |
duplication |
Inborn genetic diseases [RCV002435867] |
Chr1:161306854..161306855 [GRCh38] Chr1:161276644..161276645 [GRCh37] Chr1:1q23.3 |
pathogenic |
GRCh37/hg19 1q23.3(chr1:161207985-161437998)x3 |
copy number gain |
not provided [RCV002473787] |
Chr1:161207985..161437998 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.585-6T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002353364] |
Chr1:161306174 [GRCh38] Chr1:161275964 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.724del (p.Glu242fs) |
deletion |
Inborn genetic diseases [RCV002371103] |
Chr1:161305899 [GRCh38] Chr1:161275689 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.79G>C (p.Ala27Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002297910] |
Chr1:161307413 [GRCh38] Chr1:161277203 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.730C>A (p.Arg244Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002380041] |
Chr1:161305893 [GRCh38] Chr1:161275683 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.17C>T (p.Pro6Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002407877] |
Chr1:161309889 [GRCh38] Chr1:161279679 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.223G>C (p.Asp75His) |
single nucleotide variant |
Inborn genetic diseases [RCV002428358] |
Chr1:161307269 [GRCh38] Chr1:161277059 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.590T>G (p.Met197Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002300536] |
Chr1:161306163 [GRCh38] Chr1:161275953 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.179A>T (p.Asp60Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002407841] |
Chr1:161307313 [GRCh38] Chr1:161277103 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.322A>G (p.Lys108Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002445534] |
Chr1:161306834 [GRCh38] Chr1:161276624 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.235A>G (p.Ile79Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002296573] |
Chr1:161306921 [GRCh38] Chr1:161276711 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.181dup (p.Asp61fs) |
duplication |
Inborn genetic diseases [RCV002410332] |
Chr1:161307310..161307311 [GRCh38] Chr1:161277100..161277101 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002995352] |
Chr1:161305881 [GRCh38] Chr1:161275671 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu) |
single nucleotide variant |
not provided [RCV002475389] |
Chr1:161306768 [GRCh38] Chr1:161276558 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.374T>C (p.Phe125Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003012492] |
Chr1:161306782 [GRCh38] Chr1:161276572 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.195C>G (p.Thr65=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002618531] |
Chr1:161307297 [GRCh38] Chr1:161277087 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.235-2A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002837992] |
Chr1:161306923 [GRCh38] Chr1:161276713 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.646-20T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002815185] |
Chr1:161305997 [GRCh38] Chr1:161275787 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.648G>A (p.Thr216=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002881473] |
Chr1:161305975 [GRCh38] Chr1:161275765 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.584+8G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003076415] |
Chr1:161306321 [GRCh38] Chr1:161276111 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.584+18G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002705761] |
Chr1:161306311 [GRCh38] Chr1:161276101 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.474G>A (p.Leu158=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002760226] |
Chr1:161306439 [GRCh38] Chr1:161276229 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003036942]|Peripheral neuropathy [RCV003036941] |
Chr1:161307314 [GRCh38] Chr1:161277104 [GRCh37] Chr1:1q23.3 |
likely pathogenic|uncertain significance |
NM_000530.8(MPZ):c.558G>T (p.Arg186Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002998773] |
Chr1:161306355 [GRCh38] Chr1:161276145 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.448+13A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003035835] |
Chr1:161306695 [GRCh38] Chr1:161276485 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.728C>T (p.Ser243Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002885484] |
Chr1:161305895 [GRCh38] Chr1:161275685 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.601A>T (p.Lys201Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002844038] |
Chr1:161306152 [GRCh38] Chr1:161275942 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.34C>G (p.Pro12Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003005739] |
Chr1:161309872 [GRCh38] Chr1:161279662 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV002872470] |
Chr1:161306725..161306730 [GRCh38] Chr1:161276515..161276520 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.67+15T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002852452] |
Chr1:161309824 [GRCh38] Chr1:161279614 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.151T>A (p.Ser51Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003042120] |
Chr1:161307341 [GRCh38] Chr1:161277131 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.496del (p.Leu166fs) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV002871699] |
Chr1:161306417 [GRCh38] Chr1:161276207 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.646-16_654dup |
duplication |
Charcot-Marie-Tooth disease, type I [RCV002872473] |
Chr1:161305968..161305969 [GRCh38] Chr1:161275758..161275759 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.448+2T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003059368] |
Chr1:161306706 [GRCh38] Chr1:161276496 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.378T>C (p.Thr126=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002701149] |
Chr1:161306778 [GRCh38] Chr1:161276568 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.304_305insC (p.Val102fs) |
insertion |
Charcot-Marie-Tooth disease, type I [RCV003047364] |
Chr1:161306851..161306852 [GRCh38] Chr1:161276641..161276642 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.385G>T (p.Val129Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003048775] |
Chr1:161306771 [GRCh38] Chr1:161276561 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.78G>A (p.Pro26=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003064322] |
Chr1:161307414 [GRCh38] Chr1:161277204 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.685A>G (p.Thr229Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002629147] |
Chr1:161305938 [GRCh38] Chr1:161275728 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.448G>T (p.Val150Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003087278] |
Chr1:161306708 [GRCh38] Chr1:161276498 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.140C>T (p.Thr47Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003045609] |
Chr1:161307352 [GRCh38] Chr1:161277142 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002578866]|not provided [RCV003482415] |
Chr1:161306807 [GRCh38] Chr1:161276597 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.555C>T (p.Arg185=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002629029] |
Chr1:161306358 [GRCh38] Chr1:161276148 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.379T>G (p.Cys127Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002649595] |
Chr1:161306777 [GRCh38] Chr1:161276567 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.258_263dup (p.Tyr88Ter) |
duplication |
Charcot-Marie-Tooth disease, type I [RCV002648217] |
Chr1:161306892..161306893 [GRCh38] Chr1:161276682..161276683 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.687C>T (p.Thr229=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003028366] |
Chr1:161305936 [GRCh38] Chr1:161275726 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.209C>A (p.Pro70His) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003030129] |
Chr1:161307283 [GRCh38] Chr1:161277073 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.234+13G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV002653883] |
Chr1:161307245 [GRCh38] Chr1:161277035 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.117T>A (p.His39Gln) |
single nucleotide variant |
not provided [RCV003132678] |
Chr1:161307375 [GRCh38] Chr1:161277165 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.358A>G (p.Ser120Gly) |
single nucleotide variant |
not provided [RCV003132679] |
Chr1:161306798 [GRCh38] Chr1:161276588 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.476G>C (p.Gly159Ala) |
single nucleotide variant |
Tip-toe gait [RCV003319578] |
Chr1:161306437 [GRCh38] Chr1:161276227 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV003320396] |
Chr1:161307280 [GRCh38] Chr1:161277070 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs) |
indel |
Charcot-Marie-Tooth disease dominant intermediate D [RCV003326233] |
Chr1:161307418..161307419 [GRCh38] Chr1:161277208..161277209 [GRCh37] Chr1:1q23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer) |
deletion |
Charcot-Marie-Tooth disease type 2J [RCV003327337] |
Chr1:161306852 [GRCh38] Chr1:161276642 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.431T>A (p.Leu144Gln) |
single nucleotide variant |
not provided [RCV003326763] |
Chr1:161306725 [GRCh38] Chr1:161276515 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.215G>A (p.Gly72Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease dominant intermediate D [RCV003484534] |
Chr1:161307277 [GRCh38] Chr1:161277067 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.234+1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV003482911] |
Chr1:161307257 [GRCh38] Chr1:161277047 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.597G>C (p.Lys199Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2I [RCV003388742] |
Chr1:161306156 [GRCh38] Chr1:161275946 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.80C>G (p.Ala27Gly) |
single nucleotide variant |
not provided [RCV003481543] |
Chr1:161307412 [GRCh38] Chr1:161277202 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 |
copy number loss |
not provided [RCV003483944] |
Chr1:158001058..162858285 [GRCh37] Chr1:1q23.1-23.3 |
likely pathogenic |
NM_000530.8(MPZ):c.234G>T (p.Ser78=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003825672] |
Chr1:161307258 [GRCh38] Chr1:161277048 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.262T>A (p.Tyr88Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 1B [RCV003388711] |
Chr1:161306894 [GRCh38] Chr1:161276684 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.40C>T (p.Leu14=) |
single nucleotide variant |
not provided [RCV003409204] |
Chr1:161309866 [GRCh38] Chr1:161279656 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del) |
deletion |
Roussy-Lévy syndrome [RCV003448933] |
Chr1:161306886..161306891 [GRCh38] Chr1:161276676..161276681 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.479C>G (p.Ala160Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003882104] |
Chr1:161306434 [GRCh38] Chr1:161276224 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.418T>C (p.Ser140Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003827597] |
Chr1:161306738 [GRCh38] Chr1:161276528 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.413A>C (p.Lys138Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003876738] |
Chr1:161306743 [GRCh38] Chr1:161276533 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.648G>C (p.Thr216=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003581472] |
Chr1:161305975 [GRCh38] Chr1:161275765 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.234+14G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741667] |
Chr1:161307244 [GRCh38] Chr1:161277034 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.182A>T (p.Asp61Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582775] |
Chr1:161307310 [GRCh38] Chr1:161277100 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.472C>T (p.Leu158=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741800] |
Chr1:161306441 [GRCh38] Chr1:161276231 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.145C>A (p.His49Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741906] |
Chr1:161307347 [GRCh38] Chr1:161277137 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.552A>G (p.Leu184=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742005] |
Chr1:161306361 [GRCh38] Chr1:161276151 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.714G>C (p.Lys238Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003740671] |
Chr1:161305909 [GRCh38] Chr1:161275699 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.415_417del (p.Thr139del) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV003742058] |
Chr1:161306739..161306741 [GRCh38] Chr1:161276529..161276531 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.618A>T (p.Gly206=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742061] |
Chr1:161306135 [GRCh38] Chr1:161275925 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.13G>T (p.Ala5Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003740895] |
Chr1:161309893 [GRCh38] Chr1:161279683 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.234+12G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003740764] |
Chr1:161307246 [GRCh38] Chr1:161277036 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.646A>G (p.Thr216Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003740783] |
Chr1:161305977 [GRCh38] Chr1:161275767 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.508_511del (p.Leu170fs) |
deletion |
Charcot-Marie-Tooth disease, type I [RCV003740795] |
Chr1:161306402..161306405 [GRCh38] Chr1:161276192..161276195 [GRCh37] Chr1:1q23.3 |
pathogenic |
NM_000530.8(MPZ):c.67G>A (p.Val23Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742168] |
Chr1:161309839 [GRCh38] Chr1:161279629 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.585-8T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003740963] |
Chr1:161306176 [GRCh38] Chr1:161275966 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582315] |
Chr1:161306786 [GRCh38] Chr1:161276576 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.341T>A (p.Ile114Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582322] |
Chr1:161306815 [GRCh38] Chr1:161276605 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.75C>T (p.Ser25=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003581146] |
Chr1:161307417 [GRCh38] Chr1:161277207 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.529T>C (p.Tyr177His) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742398] |
Chr1:161306384 [GRCh38] Chr1:161276174 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.489G>A (p.Gly163=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742453] |
Chr1:161306424 [GRCh38] Chr1:161276214 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.90C>T (p.Ile30=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003581280] |
Chr1:161307402 [GRCh38] Chr1:161277192 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.105C>A (p.Asp35Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741364] |
Chr1:161307387 [GRCh38] Chr1:161277177 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.474G>C (p.Leu158=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742559] |
Chr1:161306439 [GRCh38] Chr1:161276229 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp) |
indel |
Charcot-Marie-Tooth disease, type I [RCV003740796] |
Chr1:161306406..161306407 [GRCh38] Chr1:161276196..161276197 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.68-11T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741078] |
Chr1:161307435 [GRCh38] Chr1:161277225 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.68-3C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582451] |
Chr1:161307427 [GRCh38] Chr1:161277217 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.575G>A (p.Arg192Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582982] |
Chr1:161306338 [GRCh38] Chr1:161276128 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741831] |
Chr1:161306873 [GRCh38] Chr1:161276663 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.606G>A (p.Leu202=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582574] |
Chr1:161306147 [GRCh38] Chr1:161275937 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.159G>T (p.Trp53Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741946] |
Chr1:161307333 [GRCh38] Chr1:161277123 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.26G>A (p.Ser9Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741423] |
Chr1:161309880 [GRCh38] Chr1:161279670 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.585-15T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003740912] |
Chr1:161306183 [GRCh38] Chr1:161275973 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.323A>G (p.Lys108Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741630] |
Chr1:161306833 [GRCh38] Chr1:161276623 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.614C>T (p.Pro205Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742155] |
Chr1:161306139 [GRCh38] Chr1:161275929 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.18C>T (p.Pro6=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742151] |
Chr1:161309888 [GRCh38] Chr1:161279678 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.577A>C (p.Arg193=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003581515] |
Chr1:161306336 [GRCh38] Chr1:161276126 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.646-12C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582332] |
Chr1:161305989 [GRCh38] Chr1:161275779 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.584+16dup |
duplication |
Charcot-Marie-Tooth disease, type I [RCV003741953] |
Chr1:161306312..161306313 [GRCh38] Chr1:161276102..161276103 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.142C>T (p.Leu48=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003740935] |
Chr1:161307350 [GRCh38] Chr1:161277140 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.448+19A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741502] |
Chr1:161306689 [GRCh38] Chr1:161276479 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.599G>A (p.Gly200Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003742227] |
Chr1:161306154 [GRCh38] Chr1:161275944 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.215G>C (p.Gly72Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741015] |
Chr1:161307277 [GRCh38] Chr1:161277067 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.424G>A (p.Val142Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741779] |
Chr1:161306732 [GRCh38] Chr1:161276522 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.196T>G (p.Trp66Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582083] |
Chr1:161307296 [GRCh38] Chr1:161277086 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.449-14C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741628] |
Chr1:161306478 [GRCh38] Chr1:161276268 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_000530.8(MPZ):c.128G>C (p.Gly43Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741702] |
Chr1:161307364 [GRCh38] Chr1:161277154 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.250A>G (p.Lys84Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582426] |
Chr1:161306906 [GRCh38] Chr1:161276696 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.369C>T (p.Gly123=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003582031] |
Chr1:161306787 [GRCh38] Chr1:161276577 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_000530.8(MPZ):c.282C>T (p.Thr94=) |
single nucleotide variant |
Charcot-Marie-Tooth disease, type I [RCV003741515] |
Chr1:161306874 [GRCh38] Chr1:161276664 [GRCh37] Chr1:1q23.3 |
likely benign |