Full data view for gene PMP22

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.

205 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_5_ c.-238_*1140{2} r.? p.? Unknown - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup c.(?_-1)_(*1_?)dup - PMP22_000101 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT-2 Pat14 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.? p.? Unknown - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup c.(?_-1)_(*1_?)dup - PMP22_000101 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat15 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.-141C>G r.(?) p.(=) Unknown - benign g.15168577G>C g.15265260G>C PMP22(NM_000304.2):c.-141C>G - PMP22_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-134G>A r.(?) p.(=) Unknown - benign g.15168570C>T g.15265253C>T PMP22(NM_000304.2):c.-134G>A - PMP22_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-40G>A r.(?) p.(=) Unknown - benign g.15168476C>T g.15265159C>T PMP22(NM_000304.2):c.-40G>A - PMP22_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-34-24T>C r.(=) p.(=) Parent #1 - VUS g.15164102A>G g.15260785A>G - - PMP22_000075 c.-34-24T>C (Alamut) - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat43 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat44 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat45 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat46 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat47 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat48 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat49 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat50 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat51 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat52 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat53 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - 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 - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat54 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del deletion entire gene - PMP22_000100 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel HNPP 28902413-Pat40 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del deletion entire gene - PMP22_000100 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel HNPP 28902413-Pat41 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del deletion entire gene - PMP22_000100 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel HNPP 28902413-Pat42 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del c.(?_-1)_(*1_?)del - PMP22_000100 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT-2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del - - PMP22_000100 1.5 Mb deletion gene PubMed: Cerino 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel MPD Pat13 PubMed: Cerino 2020 - F - France - - 0 - - 1 Mathieu Cerino
+/. _1_5_ c.-238_*1140{2} r.? p.? Unknown - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication ex1-5 - PMP22_000101 - PubMed: Xie 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate gene panel LGMD P1 PubMed: Xie 2019 - M - China - - 0 - - 1 Johan den Dunnen
?/. 2 c.2T>C r.(?) p.0? Unknown - VUS g.15164043A>G g.15260726A>G Met1Thr - PMP22_000103 - - - - Germline - - - 0 - DNA SEQ - - CMT 03239 - - F - Croatia (Hrvatska) - - 0 - - 1 Ana Merkler
?/. 2 c.2T>C r.(?) p.0? Unknown - VUS g.15164043A>G g.15260726A>G Met1Thr - PMP22_000103 - - - - Germline - - - 0 - DNA SEQ - - CMT 03239 - - M - Croatia (Hrvatska) - - 0 - - 1 Ana Merkler
+/. 2i c.11del r.(?) p.(Leu4Argfs*3) Unknown - pathogenic g.15164034del g.15260717del 11delT - PMP22_000004 - PubMed: Muglia 2007 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Muglia 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.19_20del r.(?) p.(Ser7Tyrfs*30) Unknown - pathogenic g.15164026_15164027del g.15260709_15260710del 19_20delAG - PMP22_000008 - PubMed: Nicholson 1994 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Nicholson 1994 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.31_39del r.(?) p.(Leu11_Val13del) Unknown - pathogenic g.15164010_15164018del g.15260693_15260701del 31_39delCTCCACGTC - PMP22_000035 - PubMed: Zhang 2009 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Zhang 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.36C>A r.(?) p.(His12Gln) Unknown - pathogenic g.15164009G>T g.15260692G>T PMP22(NM_000304.2):c.36C>A (p.H12Q) - PMP22_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.36C>A r.(?) p.(His12Gln) Unknown - pathogenic g.15164009G>T g.15260692G>T - - PMP22_000048 - PubMed: Valentijn 1995 - - Germline - - - 0 - DNA SEQ - - Dejerine-Sottas - PubMed: Valentijn 1995 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.47T>C r.(?) p.(Leu16Pro) Unknown - pathogenic g.15163998A>G g.15260681A>G PMP22(NM_000304.2):c.47T>C (p.L16P) - PMP22_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.47T>C r.(?) p.(Leu16Pro) Unknown - pathogenic g.15163998A>G g.15260681A>G - - PMP22_000061 - PubMed: Valentijn 1992 - - Germline - - - 0 - DNA SEQ - - CMT-1 - PubMed: Valentijn 1992 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.56T>C r.(?) p.(Leu19Pro) Unknown - pathogenic g.15163989A>G g.15260672A>G PMP22(NM_000304.2):c.56T>C (p.L19P) - PMP22_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.56T>C r.(?) p.(Leu19Pro) Unknown - pathogenic g.15163989A>G g.15260672A>G - - PMP22_000062 - PubMed: Nelis 1999 - - Germline - - - 0 - DNA SEQ - - Dejerine-Sottas - PubMed: Nelis 1999 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 2 c.59_64del r.(?) p.(Phe20_Val21del) Unknown - likely pathogenic g.15163982_15163987del g.15260665_15260670del 59_64delTCGTCT - PMP22_000104 - - - - Germline - - - 0 - DNA SEQ - - CMT 03239 - - M - Croatia (Hrvatska) - - 0 - - 1 Ana Merkler
+?/. 2 c.59_64del r.(?) p.(Phe20_Val21del) Unknown - likely pathogenic g.15163982_15163987del g.15260665_15260670del 59_64delTCGTCT - PMP22_000104 - - - - Germline - - - 0 - DNA SEQ - - CMT 03239 - - F - Croatia (Hrvatska) - - 0 - - 1 Ana Merkler
+/. - c.65C>T r.(?) p.(Ser22Phe) Unknown - pathogenic g.15163980G>A g.15260663G>A PMP22(NM_000304.2):c.65C>T (p.S22F) - PMP22_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.65C>T r.(?) p.(Ser22Phe) Unknown - pathogenic g.15163980G>A g.15260663G>A - - PMP22_000063 - PubMed: Kleopa 2004 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Kleopa 2004 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.68C>G r.(?) p.(Thr23Arg) Unknown - pathogenic g.15163977G>C g.15260660G>C PMP22(NM_000304.2):c.68C>G (p.T23R) - PMP22_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.68C>G r.(?) p.(Thr23Arg) Unknown - pathogenic g.15163977G>C g.15260660G>C - - PMP22_000064 - PubMed: Joo 2004 - - Germline - - - 0 - DNA SEQ - - CMT-1 - PubMed: Joo 2004 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.68C>G r.(?) p.(Thr23Arg) Unknown - likely pathogenic g.15163977G>C g.15260660G>C PMP22(NM_000304.2):c.68C>G (p.T23R) - PMP22_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2_2i c.75_78+2del r.spl p.? Unknown - pathogenic g.15163968_15163973del g.15260651_15260656del 75_78+2delCAGCGT - PMP22_000065 - PubMed: Mersiyanova 2000 - - Germline - - - 0 - DNA SEQ - - CMT-1 - PubMed: Mersiyanova 2000 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 2_2i c.76_78+2delinsC r.spl p.? Unknown - likely pathogenic g.15163965_15163969delinsG g.15260648_15260652delinsG - - PMP22_000079 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
+/. - c.78+1G>T r.(=) p.(=) Parent #1 - pathogenic g.15163966C>A g.15260649C>A - - PMP22_000074 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.78+1G>T r.spl? p.? Unknown - pathogenic g.15163966C>A g.15260649C>A PMP22(NM_000304.2):c.78+1G>T - PMP22_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.78+5G>C r.spl p.? Parent #1 - pathogenic g.15163962C>G g.15260645C>G - - PMP22_000102 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat37 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. - c.78+5G>C r.spl p.? Parent #1 - pathogenic g.15163962C>G g.15260645C>G - - PMP22_000102 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat38 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. - c.78+5G>C r.spl p.? Parent #1 - pathogenic g.15163962C>G g.15260645C>G - - PMP22_000102 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat39 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
?/. - c.79-23G>A r.(=) p.(=) Parent #1 - VUS g.15162533C>T g.15259216C>T - - PMP22_000073 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.79-6C>T r.(=) p.(=) Unknown - benign g.15162516G>A g.15259199G>A PMP22(NM_000304.2):c.79-6C>T - PMP22_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.79-6C>T r.(=) p.(=) Unknown - benign g.15162516G>A - PMP22(NM_000304.2):c.79-6C>T - PMP22_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.82T>C r.(?) p.(Trp28Arg) Unknown - pathogenic g.15162507A>G g.15259190A>G PMP22(NM_000304.2):c.82T>C (p.W28R) - PMP22_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.82T>C r.(?) p.(Trp28Arg) Unknown - pathogenic g.15162507A>G g.15259190A>G - - PMP22_000066 - PubMed: Takashima 2001 - - Germline - - - 0 - DNA SEQ - - CMT-1 - PubMed: Takashima 2001 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.87C>T r.(?) p.(Ile29=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.88G>A r.(?) p.(Val30Met) Unknown - pathogenic g.15162501C>T g.15259184C>T PMP22(NM_000304.2):c.88G>A (p.V30M) - PMP22_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.88G>A r.(?) p.(Val30Met) Unknown - pathogenic g.15162501C>T g.15259184C>T - - PMP22_000028 - PubMed: Sahenk 1998 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Sahenk 1998 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.110A>T r.(?) p.(Asp37Val) Unknown - pathogenic g.15162479T>A g.15259162T>A PMP22(NM_000304.2):c.110A>T (p.D37V) - PMP22_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.110A>T r.(?) p.(Asp37Val) Unknown - pathogenic g.15162479T>A g.15259162T>A - - PMP22_000003 - PubMed: Fabrizi 1999 - - Germline - - - 0 - DNA SEQ - - CMT-1 - PubMed: Fabrizi 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.130_131del r.(?) p.(Thr44Leufs*178) Unknown - pathogenic g.15162459_15162460del g.15259142_15259143del 130_131delAC - PMP22_000005 - PubMed: Taioli 2011 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Taioli 2011 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.152dup r.(?) p.(His51GlnfsTer172) Unknown - likely pathogenic g.15162437dup g.15259120dup PMP22(NM_001281456.2):c.152dupA (p.H51Qfs*172) - PMP22_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3_3i c.174_178+7del r.spl p.? Unknown - pathogenic g.15162405_15162416del g.15259088_15259099del 174_178+7delAAACGGTGAGGC - PMP22_000006 - PubMed: Taioli 2011 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Taioli 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.178+1G>C r.spl? p.? Unknown - pathogenic g.15162410C>G g.15259093C>G PMP22(NM_000304.2):c.178+1G>C - PMP22_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.178+7C>A r.(=) p.(=) Parent #1 - VUS g.15162404G>T g.15259087G>T - - PMP22_000072 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.178+7C>A r.(=) p.(=) Unknown - likely benign g.15162404G>T - PMP22(NM_001281456.1):c.178+7C>A - PMP22_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178+22A>G r.(=) p.(=) Parent #1 - benign g.15162389T>C g.15259072T>C - - PMP22_000071 - - - rs231020 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.178+22A>G r.(=) p.(=) Unknown - benign g.15162389T>C g.15259072T>C PMP22(NM_000304.2):c.178+22A>G - PMP22_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179-8510C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179-8379C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.179-17G>A r.(=) p.(=) Unknown - benign g.15142945C>T g.15239628C>T PMP22(NM_001281456.2):c.179-17G>A - PMP22_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.179-2A>G r.spl? p.? Unknown - pathogenic g.15142930T>C g.15239613T>C PMP22(NM_000304.2):c.179-2A>G - PMP22_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.179-1G>A r.spl? p.? Unknown - pathogenic g.15142929C>T g.15239612C>T PMP22(NM_000304.2):c.179-1G>A - PMP22_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.179-1G>C r.spl? p.? Unknown - pathogenic g.15142929C>G g.15239612C>G PMP22(NM_000304.2):c.179-1G>C - PMP22_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.183G>A r.(?) p.(Trp61Ter) Unknown - pathogenic g.15142924C>T g.15239607C>T PMP22(NM_000304.2):c.183G>A (p.W61*) - PMP22_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.183G>A r.(?) p.(Trp61*) Unknown - pathogenic g.15142924C>T g.15239607C>T - - PMP22_000007 - PubMed: Nelis 1999 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Nelis 1999 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.185T>G r.(?) p.(Leu62Arg) Unknown - VUS g.15142922A>C g.15239605A>C PMP22(NM_000304.3):c.185T>G (p.L62R) - PMP22_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.185T>G r.(?) p.(Leu62Arg) Unknown - likely pathogenic g.15142922A>C g.15239605A>C - - PMP22_000088 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel HMN Pat13 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.193G>T r.(?) p.(Val65Phe) Unknown - pathogenic g.15142914C>A g.15239597C>A PMP22(NM_000304.2):c.193G>T (p.V65F) - PMP22_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.193G>T r.(?) p.(Val65Phe) Unknown - pathogenic g.15142914C>A g.15239597C>A - - PMP22_000009 - PubMed: Huehne 2003 - - Germline - - - 0 - DNA SEQ - - CMT-1 - PubMed: Huehne 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.199G>A r.(?) p.(Ala67Thr) Unknown - pathogenic g.15142908C>T g.15239591C>T PMP22(NM_000304.2):c.199G>A (p.A67T) - PMP22_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.199G>A r.(?) p.(Ala67Thr) Unknown - pathogenic g.15142908C>T g.15239591C>T - - PMP22_000010 - PubMed: Nodera 2003 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Nodera 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.199G>C r.(?) p.(Ala67Pro) Unknown - pathogenic g.15142908C>G g.15239591C>G PMP22(NM_000304.2):c.199G>C (p.A67P) - PMP22_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.199G>C r.(?) p.(Ala67Pro) Unknown - pathogenic g.15142908C>G g.15239591C>G - - PMP22_000011 - PubMed: Kovach 1999 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Kovach 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.200C>A r.(=) p.(Ala67Asp) Parent #1 - pathogenic g.15142907G>T g.15239590G>T - - PMP22_000070 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.200C>A r.(?) p.(Ala67Asp) Unknown - likely pathogenic g.15142907G>T g.15239590G>T - - PMP22_000070 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.206T>A r.(?) p.(Met69Lys) Unknown - pathogenic g.15142901A>T g.15239584A>T PMP22(NM_000304.2):c.206T>A (p.M69K) - PMP22_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.206T>A r.(?) p.(Met69Lys) Unknown - pathogenic g.15142901A>T g.15239584A>T - - PMP22_000012 - PubMed: Roa 1993 - - Germline - - - 0 - DNA SEQ - - Dejerine-Sottas - PubMed: Roa 1993 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.206T>G r.(?) p.(Met69Arg) Unknown - pathogenic g.15142901A>C g.15239584A>C - - PMP22_000013 - PubMed: Russo 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Russo 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.212T>C r.(?) p.(Leu71Pro) Unknown - pathogenic g.15142895A>G g.15239578A>G PMP22(NM_000304.2):c.212T>C (p.L71P) - PMP22_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.212T>C r.(?) p.(Leu71Pro) Unknown - pathogenic g.15142895A>G g.15239578A>G - - PMP22_000014 - PubMed: Boerkoel 2002 - - Germline - - - 0 - DNA SEQ - - Dejerine-Sottas - PubMed: Boerkoel 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.214T>C r.(?) p.(Ser72Pro) Unknown - pathogenic g.15142893A>G g.15239576A>G PMP22(NM_000304.2):c.214T>C (p.S72P) - PMP22_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.214T>C r.(?) p.(Ser72Pro) Unknown - pathogenic g.15142893A>G g.15239576A>G - - PMP22_000015 - PubMed: Nelis 1999 - - Germline - - - 0 - DNA SEQ - - Dejerine-Sottas - PubMed: Nelis 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.215C>G r.(?) p.(Ser72Trp) Unknown - pathogenic g.15142892G>C g.15239575G>C PMP22(NM_000304.2):c.215C>G (p.S72W) - PMP22_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.215C>G r.(?) p.(Ser72Trp) Unknown - pathogenic g.15142892G>C g.15239575G>C - - PMP22_000016 - PubMed: Tyson 1997 - - Germline - - - 0 - DNA SEQ - - Dejerine-Sottas - PubMed: Tyson 1997 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.215C>T r.(?) p.(Ser72Leu) Unknown - pathogenic g.15142892G>A g.15239575G>A PMP22(NM_000304.2):c.215C>T (p.S72L) - PMP22_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.215C>T r.(?) p.(Ser72Leu) Parent #1 - pathogenic g.15142892G>A g.15239575G>A - - PMP22_000002 - - - - De novo - 1/25 - 0 - DNA SEQ - - CMT - - family, 1 affected M no Korea, South (Republic) Korean - 0 - - 1 Ki Wha Chung
+/. - c.215C>T r.(?) p.(Ser72Leu) Parent #1 - pathogenic g.15142892G>A g.15239575G>A - - PMP22_000002 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat35 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. 4 c.227del r.(?) p.(Ser76Thrfs*35) Unknown - pathogenic g.15142880del g.15239563del 227delG - PMP22_000017 - PubMed: Luigetti 2008 - - Germline - - - 0 - DNA SEQ - - HNPP - PubMed: Luigetti 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.227G>T r.(?) p.(Ser76Ile) Unknown - pathogenic g.15142880C>A g.15239563C>A PMP22(NM_000304.2):c.227G>T (p.S76I) - PMP22_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.227G>T r.(?) p.(Ser76Ile) Unknown - pathogenic g.15142880C>A g.15239563C>A - - PMP22_000018 - PubMed: Tyson 1997 - - Germline - - - 0 - DNA SEQ - - Dejerine-Sottas - PubMed: Tyson 1997 - - - - - - 0 - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »