Unique variants in the PMP22 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000304.3 transcript reference sequence.

120 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 2 _1_5_ c.-238_*1140{2} r.? p.? - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup c.(?_-1)_(*1_?)dup - PMP22_000101 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.-141C>G r.(?) p.(=) - benign g.15168577G>C g.15265260G>C PMP22(NM_000304.2):c.-141C>G - PMP22_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-134G>A r.(?) p.(=) - benign g.15168570C>T g.15265253C>T PMP22(NM_000304.2):c.-134G>A - PMP22_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-40G>A r.(?) p.(=) - benign g.15168476C>T g.15265159C>T PMP22(NM_000304.2):c.-40G>A - PMP22_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.-34-24T>C r.(=) p.(=) - VUS g.15164102A>G g.15260785A>G - - PMP22_000075 c.-34-24T>C (Alamut) - - - Germline - - - - - Andreas Laner
+/. 12 _1_5_ c.-238_*1140{2} r.= p.= - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - Johan den Dunnen
+/. 5 _1_5_ c.-238_*1140{0} r.0 p.0 ACMG pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del c.(?_-1)_(*1_?)del, deletion entire gene - PMP22_000100 1.5 Mb deletion gene PubMed: Antoniadi 2015, PubMed: Cerino 2020, PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - Johan den Dunnen, Mathieu Cerino
+/. 1 _1_5_ c.-238_*1140{2} r.? p.? - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication ex1-5 - PMP22_000101 - PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
?/. 2 2 c.2T>C r.(?) p.0? - VUS g.15164043A>G g.15260726A>G Met1Thr - PMP22_000103 - - - - Germline - - - - - Ana Merkler
+/. 1 2i c.11del r.(?) p.(Leu4Argfs*3) - pathogenic g.15164034del g.15260717del 11delT - PMP22_000004 - PubMed: Muglia 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.19_20del r.(?) p.(Ser7Tyrfs*30) - pathogenic g.15164026_15164027del g.15260709_15260710del 19_20delAG - PMP22_000008 - PubMed: Nicholson 1994 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.31_39del r.(?) p.(Leu11_Val13del) - pathogenic g.15164010_15164018del g.15260693_15260701del 31_39delCTCCACGTC - PMP22_000035 - PubMed: Zhang 2009 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.36C>A r.(?) p.(His12Gln) - pathogenic g.15164009G>T g.15260692G>T PMP22(NM_000304.2):c.36C>A (p.H12Q) - PMP22_000048 VKGL data sharing initiative Nederland PubMed: Valentijn 1995 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 2 c.47T>C r.(?) p.(Leu16Pro) - pathogenic g.15163998A>G g.15260681A>G PMP22(NM_000304.2):c.47T>C (p.L16P) - PMP22_000061 VKGL data sharing initiative Nederland PubMed: Valentijn 1992 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 2 c.56T>C r.(?) p.(Leu19Pro) - pathogenic g.15163989A>G g.15260672A>G PMP22(NM_000304.2):c.56T>C (p.L19P) - PMP22_000062 VKGL data sharing initiative Nederland PubMed: Nelis 1999 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+?/. 2 2 c.59_64del r.(?) p.(Phe20_Val21del) - likely pathogenic g.15163982_15163987del g.15260665_15260670del 59_64delTCGTCT - PMP22_000104 - - - - Germline - - - - - Ana Merkler
+/. 2 2 c.65C>T r.(?) p.(Ser22Phe) - pathogenic g.15163980G>A g.15260663G>A PMP22(NM_000304.2):c.65C>T (p.S22F) - PMP22_000063 VKGL data sharing initiative Nederland PubMed: Kleopa 2004 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/., +?/. 3 2 c.68C>G r.(?) p.(Thr23Arg) - likely pathogenic, pathogenic g.15163977G>C g.15260660G>C PMP22(NM_000304.2):c.68C>G (p.T23R) - PMP22_000064 VKGL data sharing initiative Nederland PubMed: Joo 2004 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 2_2i c.75_78+2del r.spl p.? - pathogenic g.15163968_15163973del g.15260651_15260656del 75_78+2delCAGCGT - PMP22_000065 - PubMed: Mersiyanova 2000 - - Germline - - - - - Johan den Dunnen
+?/. 1 2_2i c.76_78+2delinsC r.spl p.? - likely pathogenic g.15163965_15163969delinsG g.15260648_15260652delinsG - - PMP22_000079 - - - - Unknown - - - - - IMGAG
+/. 2 - c.78+1G>T r.(=), r.spl? p.(=), p.? - pathogenic g.15163966C>A g.15260649C>A PMP22(NM_000304.2):c.78+1G>T - PMP22_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_AMC
+/. 3 - c.78+5G>C r.spl p.? - pathogenic g.15163962C>G g.15260645C>G - - PMP22_000102 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - Johan den Dunnen
?/. 1 - c.79-23G>A r.(=) p.(=) - VUS g.15162533C>T g.15259216C>T - - PMP22_000073 - - - - Germline - - - - - Andreas Laner
-/. 2 - c.79-6C>T r.(=) p.(=) - benign g.15162516G>A g.15259199G>A PMP22(NM_000304.2):c.79-6C>T - PMP22_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 2 3 c.82T>C r.(?) p.(Trp28Arg) - pathogenic g.15162507A>G g.15259190A>G PMP22(NM_000304.2):c.82T>C (p.W28R) - PMP22_000066 VKGL data sharing initiative Nederland PubMed: Takashima 2001 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
-/. 1 - c.87C>T r.(?) p.(Ile29=) - benign g.15162502G>A g.15259185G>A PMP22(NM_000304.2):c.87C>T (p.I29=) - PMP22_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 3 c.88G>A r.(?) p.(Val30Met) - pathogenic g.15162501C>T g.15259184C>T PMP22(NM_000304.2):c.88G>A (p.V30M) - PMP22_000028 VKGL data sharing initiative Nederland PubMed: Sahenk 1998 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 3 c.110A>T r.(?) p.(Asp37Val) - pathogenic g.15162479T>A g.15259162T>A PMP22(NM_000304.2):c.110A>T (p.D37V) - PMP22_000003 VKGL data sharing initiative Nederland PubMed: Fabrizi 1999 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 2 c.130_131del r.(?) p.(Thr44Leufs*178) - pathogenic g.15162459_15162460del g.15259142_15259143del 130_131delAC - PMP22_000005 - PubMed: Taioli 2011 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.152dup r.(?) p.(His51GlnfsTer172) - likely pathogenic g.15162437dup g.15259120dup PMP22(NM_001281456.2):c.152dupA (p.H51Qfs*172) - PMP22_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 3_3i c.174_178+7del r.spl p.? - pathogenic g.15162405_15162416del g.15259088_15259099del 174_178+7delAAACGGTGAGGC - PMP22_000006 - PubMed: Taioli 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.178+1G>C r.spl? p.? - pathogenic g.15162410C>G g.15259093C>G PMP22(NM_000304.2):c.178+1G>C - PMP22_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.178+7C>A r.(=) p.(=) - likely benign, VUS g.15162404G>T g.15259087G>T PMP22(NM_001281456.1):c.178+7C>A - PMP22_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht
-/. 2 - c.178+22A>G r.(=) p.(=) - benign g.15162389T>C g.15259072T>C PMP22(NM_000304.2):c.178+22A>G - PMP22_000071 VKGL data sharing initiative Nederland - - rs231020 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_AMC
-?/. 1 - c.179-8510C>T r.(=) p.(=) - likely benign g.15151438G>A g.15248121G>A PMP22(NM_000304.2):c.179-8510C>T - PMP22_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.179-8379C>T r.(=) p.(=) - likely benign g.15151307G>A g.15247990G>A PMP22(NM_001281456.2):c.179-8379C>T - PMP22_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.179-17G>A r.(=) p.(=) - benign g.15142945C>T g.15239628C>T PMP22(NM_001281456.2):c.179-17G>A - PMP22_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.179-2A>G r.spl? p.? - pathogenic g.15142930T>C g.15239613T>C PMP22(NM_000304.2):c.179-2A>G - PMP22_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.179-1G>A r.spl? p.? - pathogenic g.15142929C>T g.15239612C>T PMP22(NM_000304.2):c.179-1G>A - PMP22_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.179-1G>C r.spl? p.? - pathogenic g.15142929C>G g.15239612C>G PMP22(NM_000304.2):c.179-1G>C - PMP22_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 4 c.183G>A r.(?) p.(Trp61*), p.(Trp61Ter) - pathogenic g.15142924C>T g.15239607C>T PMP22(NM_000304.2):c.183G>A (p.W61*) - PMP22_000007 VKGL data sharing initiative Nederland PubMed: Nelis 1999 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+?/., ?/. 2 - c.185T>G r.(?) p.(Leu62Arg) - likely pathogenic, VUS g.15142922A>C g.15239605A>C PMP22(NM_000304.3):c.185T>G (p.L62R) - PMP22_000088 VKGL data sharing initiative Nederland PubMed: Antoniadi 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 4 c.193G>T r.(?) p.(Val65Phe) - pathogenic g.15142914C>A g.15239597C>A PMP22(NM_000304.2):c.193G>T (p.V65F) - PMP22_000009 VKGL data sharing initiative Nederland PubMed: Huehne 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 4 c.199G>A r.(?) p.(Ala67Thr) - pathogenic g.15142908C>T g.15239591C>T PMP22(NM_000304.2):c.199G>A (p.A67T) - PMP22_000010 VKGL data sharing initiative Nederland PubMed: Nodera 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 4 c.199G>C r.(?) p.(Ala67Pro) - pathogenic g.15142908C>G g.15239591C>G PMP22(NM_000304.2):c.199G>C (p.A67P) - PMP22_000011 VKGL data sharing initiative Nederland PubMed: Kovach 1999 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/., +?/. 2 - c.200C>A r.(=), r.(?) p.(Ala67Asp) - likely pathogenic, pathogenic g.15142907G>T g.15239590G>T - - PMP22_000070 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen, Andreas Laner
+/. 2 4 c.206T>A r.(?) p.(Met69Lys) - pathogenic g.15142901A>T g.15239584A>T PMP22(NM_000304.2):c.206T>A (p.M69K) - PMP22_000012 VKGL data sharing initiative Nederland PubMed: Roa 1993 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 4 c.206T>G r.(?) p.(Met69Arg) - pathogenic g.15142901A>C g.15239584A>C - - PMP22_000013 - PubMed: Russo 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.212T>C r.(?) p.(Leu71Pro) - pathogenic g.15142895A>G g.15239578A>G PMP22(NM_000304.2):c.212T>C (p.L71P) - PMP22_000014 VKGL data sharing initiative Nederland PubMed: Boerkoel 2002 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 4 c.214T>C r.(?) p.(Ser72Pro) - pathogenic g.15142893A>G g.15239576A>G PMP22(NM_000304.2):c.214T>C (p.S72P) - PMP22_000015 VKGL data sharing initiative Nederland PubMed: Nelis 1999 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 4 c.215C>G r.(?) p.(Ser72Trp) - pathogenic g.15142892G>C g.15239575G>C PMP22(NM_000304.2):c.215C>G (p.S72W) - PMP22_000016 VKGL data sharing initiative Nederland PubMed: Tyson 1997 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 3 4 c.215C>T r.(?) p.(Ser72Leu) - pathogenic g.15142892G>A g.15239575G>A PMP22(NM_000304.2):c.215C>T (p.S72L) - PMP22_000002 VKGL data sharing initiative Nederland PubMed: Dohrn 2017, Journal: Dohrn 2017 - - CLASSIFICATION record, De novo, Germline - 1/25, 1/612 cases - - - Johan den Dunnen, Ki Wha Chung, VKGL-NL_AMC
+/. 1 4 c.227del r.(?) p.(Ser76Thrfs*35) - pathogenic g.15142880del g.15239563del 227delG - PMP22_000017 - PubMed: Luigetti 2008 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.227G>T r.(?) p.(Ser76Ile) - pathogenic g.15142880C>A g.15239563C>A PMP22(NM_000304.2):c.227G>T (p.S76I) - PMP22_000018 VKGL data sharing initiative Nederland PubMed: Tyson 1997 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+?/. 1 - c.228C>A r.(?) p.(Ser76Arg) - likely pathogenic g.15142879G>T g.15239562G>T PMP22(NM_001281456.1):c.228C>A (p.S76R) - PMP22_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.233T>C r.(?) p.(Leu78Pro) - pathogenic g.15142874A>G g.15239557A>G - - PMP22_000019 - PubMed: Pisciotta 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.235T>A r.(?) p.(Ser79Thr) - pathogenic g.15142872A>T g.15239555A>T - - PMP22_000020 - PubMed: Brožková 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.235T>C r.(?) p.(Ser79Pro) - pathogenic g.15142872A>G g.15239555A>G PMP22(NM_000304.2):c.235T>C (p.S79P) - PMP22_000028 VKGL data sharing initiative Nederland PubMed: Bort 1998 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+?/. 1 - c.236A>G - - - likely pathogenic g.15142871T>C - - - PMP22_000112 1 more item - - - Germline - - - - - Carmen Espinós
+/. 2 4 c.236C>G r.(?) p.(Ser79Cys) - pathogenic g.15142871G>C g.15239554G>C PMP22(NM_000304.2):c.236C>G (p.S79C) - PMP22_000028 VKGL data sharing initiative Nederland PubMed: Roa 1993 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.236C>T r.(=) p.(Ser79Phe) - VUS g.15142871G>A g.15239554G>A - - PMP22_000069 p.(Ser79Cys) described as pathogenic(Roa 1993), also c.235T>C; p. Ser79Pro (Bort 1998) - - - Germline - - - - - Andreas Laner
+/. 1 4 c.238_239del r.(?) p.(Leu80Valfs*142) - pathogenic g.15142871_15142872del g.15239554_15239555del 238_239delCT - PMP22_000023 - PubMed: Ikegami 1998 - - Germline - - - - - Johan den Dunnen
+/., ?/. 3 4 c.239T>C r.(?) p.(Leu80Pro) - pathogenic, VUS g.15142868A>G g.15239551A>G PMP22(NM_000304.2):c.239T>C (p.L80P) - PMP22_000028 VKGL data sharing initiative Nederland PubMed: Ganapathy 2019, PubMed: Tyson 1997 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 4 c.239T>G r.(?) p.(Leu80Arg) - pathogenic g.15142868A>C g.15239551A>C - - PMP22_000025 - PubMed: Gabreels-Festen 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.251_253del r.(?) p.(Phe84del) - pathogenic g.15142858_15142860del g.15239541_15239543del 251_253delTCT - PMP22_000026 - PubMed: Silander 1998 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.256C>T r.(?) p.(Gln86*), p.(Gln86Ter) - pathogenic g.15142851G>A g.15239534G>A PMP22(NM_000304.2):c.256C>T (p.Q86*) - PMP22_000028 VKGL data sharing initiative Nederland PubMed: Numakura 2002 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.260T>C r.(=) p.(Leu87Pro) - VUS g.15142847A>G g.15239530A>G - - PMP22_000068 PolyPhen-2 : prob.dam. (PSIC: 1,0) - - - Germline - - - - - Andreas Laner
+/. 2 4 c.277G>C r.(?) p.(Gly93Arg) - pathogenic g.15142830C>G g.15239513C>G PMP22(NM_000304.2):c.277G>C (p.G93R) - PMP22_000028 VKGL data sharing initiative Nederland PubMed: Ohnishi 1995 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 3 4 c.281del r.(?) p.(Gly94Alafs*17) - pathogenic, pathogenic (dominant) g.15142831del g.15239514del 281delG, c.281delG - PMP22_000029 - PubMed: Antoniadi 2015, PubMed: Dohrn 2017, Journal: Dohrn 2017, PubMed: Ionasescu 1997 - - De novo, Germline yes 1/612 cases - - - Johan den Dunnen
+/. 3 4 c.281dup r.(?) p.(Arg95Glnfs*128), p.(Arg95GlnfsTer128) - pathogenic g.15142831dup g.15239514dup 281dupG, PMP22(NM_000304.2):c.281dupG (p.R95Qfs*128) - PMP22_000030, PMP22_000087 VKGL data sharing initiative Nederland PubMed: Young 1997 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 4 c.297del r.(?) p.(Gly100Glufs*11) - pathogenic g.15142810del g.15239493del - - PMP22_000031 - PubMed: Moszynska 2009 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.298C>T - - - likely pathogenic g.15142809G>A - - - PMP22_000111 1 more item - - - Germline - - - - - Carmen Espinós
+/. 2 4 c.298G>A r.(?) p.(Gly100Arg) - pathogenic g.15142809C>T g.15239492C>T PMP22(NM_000304.2):c.298G>A (p.G100R) - PMP22_000032 VKGL data sharing initiative Nederland PubMed: Bort 1997 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 4 c.299G>A r.(?) p.(Gly100Glu) - pathogenic g.15142808C>T g.15239491C>T PMP22(NM_000304.2):c.299G>A (p.G100E) - PMP22_000033 VKGL data sharing initiative Nederland PubMed: Marques 1998 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 4 c.307C>T r.(?) p.(Gln103*) - pathogenic g.15142800G>A g.15239483G>A - - PMP22_000034 - PubMed: Pisciotta 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.312del r.(?) p.(Ala106Leufs*5) - pathogenic g.15142796del g.15239479del 312delT - PMP22_000036 - PubMed: Numakura 2002 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.314T>G r.(?) p.(Leu105Arg) - pathogenic g.15142793A>C g.15239476A>C PMP22(NM_000304.2):c.314T>G (p.L105R) - PMP22_000037 VKGL data sharing initiative Nederland PubMed: Nelis 1999 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 2 c.318del r.(?) p.(Gly107Valfs*4) - pathogenic g.15142789del g.15239472del 318delT - PMP22_000038 - PubMed: Choi 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.319+1G>A r.spl? p.? - pathogenic g.15142787C>T g.15239470C>T PMP22(NM_000304.2):c.319+1G>A - PMP22_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.319+34G>A r.(=) p.(=) - benign g.15142754C>T g.15239437C>T - - PMP22_000067 - - - rs78099380 Germline - - - - - Andreas Laner
-?/. 1 - c.320-4C>T r.(?) p.(?) ACMG likely benign g.15134401G>A g.15231084G>A - - PMP22_000116 ACMG grading: BP4,BP6 - - rs377467465 Germline - - - - - Andreas Laner
+/. 1 - c.320-2A>G r.(=) p.(=) - pathogenic g.15134399T>C g.15231082T>C - - PMP22_000098 - - - - Germline - - - - - Andreas Laner
+/. 2 5 c.320G>T r.(?) p.(Gly107Val) - pathogenic g.15134397C>A g.15231080C>A PMP22(NM_000304.2):c.320G>T (p.G107V) - PMP22_000039 VKGL data sharing initiative Nederland PubMed: Marrosu 1997 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 5 c.323T>C r.(?) p.(Leu108Pro) - pathogenic g.15134394A>G g.15231077A>G - - PMP22_000040 - PubMed: Zubair 2008 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.325T>C r.(?) p.(Cys109Arg) - pathogenic g.15134392A>G g.15231075A>G PMP22(NM_000304.2):c.325T>C (p.C109R) - PMP22_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - 1/25 - - - Ki Wha Chung, VKGL-NL_AMC
+/. 3 5 c.327C>A r.(?) p.(Cys109*), p.(Cys109Ter) - pathogenic g.15134390G>T g.15231073G>T PMP22(NM_000304.2):c.327C>A (p.C109*) - PMP22_000041 Abe et al. 2004. Neuromuscul Disord 14(5): 313, VKGL data sharing initiative Nederland PubMed: Abe 2004 - rs863225028 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_AMC
-/. 1 - c.327C>T r.(?) p.(Cys109=) - benign g.15134390G>A g.15231073G>A PMP22(NM_000304.2):c.327C>T (p.C109=) - PMP22_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 5 c.332T>C r.(?) p.(Met111Thr) - pathogenic g.15134385A>G g.15231068A>G - - PMP22_000042 - PubMed: Miltenberger-Miltenyi 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.336T>G r.(?) p.(Ser112Arg) - pathogenic g.15134381A>C g.15231064A>C - - PMP22_000043 - PubMed: Kabzinska 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.344_355del r.(?) p.(Ala115_Thr118del) - pathogenic g.15134365_15134376del g.15231048_15231059del 344_355delCCATCTACACGG - PMP22_000044 - PubMed: Sambuughin 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.346_347insCC r.(?) p.(Ile116Thrfs*5) - pathogenic g.15134370_15134371insGG g.15231053_15231054insGG - - PMP22_000045 - PubMed: Taioli 2011 - - Germline - - - - - Johan den Dunnen
+/., -?/., ?/. 13 5 c.353C>T r.(?) p.(Thr118Met), p.Thr118Met ACMG likely benign, pathogenic, pathogenic (!), pathogenic (dominant), VUS g.15134364G>A g.15231047G>A PMP22(NM_001281456.1):c.353C>T (p.T118M), PMP22(NM_001281456.2):c.353C>T (p.T118M) - PMP22_000046 conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; Clinindb (India), 4 more items PubMed: Antoniadi 2015, PubMed: Antoniadi 2015, PubMed: Forrester 2020, PubMed: Roa 1993, 1 more item - rs104894619 CLASSIFICATION record, Germline - 19/2795 individuals - - - Gerard C.P. Schaafsma, Johan den Dunnen, Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
+/. 1 5 c.364_365del r.(?) p.(Pro122Glyfs*100) - pathogenic g.15134353_15134354del g.15231036_15231037del 364_365delCC - PMP22_000047 - PubMed: Bissar-Tadmouri 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.370del r.(?) p.(Trp124Glyfs*31) - pathogenic (dominant) g.15134347del g.15231030del - - PMP22_000105 - - - - Germline yes - - - - Thibaut Benquey
+/. 1 - c.372G>A r.(?) p.(Trp124Ter) - pathogenic g.15134345C>T g.15231028C>T PMP22(NM_000304.2):c.372G>A (p.W124*) - PMP22_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 5 c.392C>G r.(?) p.(Ser131Cys) - pathogenic g.15134325G>C g.15231008G>C - - PMP22_000049 - PubMed: Russo 2011 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.396C>T r.(=) p.(=) - benign g.15134321G>A g.15231004G>A - - PMP22_000077 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.403G>A r.(?) p.(Ala135Thr) - benign g.15134314C>T g.15230997C>T PMP22(NM_001281456.2):c.403G>A (p.A135T) - PMP22_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.409A>G r.(?) p.(Ile137Val) - benign g.15134308T>C g.15230991T>C PMP22(NM_000304.2):c.409A>G (p.I137V) - PMP22_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 5 c.418T>A r.(?) p.(Trp140Arg) - pathogenic g.15134299A>T g.15230982A>T - - PMP22_000050 - PubMed: Takashima 2001 - - Germline - - - - - Johan den Dunnen
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