Full data view for gene FGD4

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_139241.2 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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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     
-/. - c.-102749C>G r.(?) p.(=) Unknown - benign g.32552769C>G - FGD4(NM_001370298.3):c.42C>G (p.I14M) - FGD4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-102744G>A r.(?) p.(=) Unknown - likely benign g.32552774G>A - FGD4(NM_001370298.3):c.47G>A (p.R16Q) - FGD4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-102692G>A r.(?) p.(=) Unknown - likely benign g.32552826G>A - FGD4(NM_001370298.3):c.99G>A (p.R33=) - FGD4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-246G>C r.(=) p.(=) Parent #1 - benign g.32655272G>C g.32502338G>C - - FGD4_000030 c.-92-73928 laut Alamut - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-245-29748A>G r.(=) p.(=) Unknown - likely benign g.32687323A>G g.32534389A>G FGD4(NM_001385118.1):c.-355A>G - FGD4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-245-29728T>C r.(=) p.(=) Unknown - VUS g.32687343T>C g.32534409T>C FGD4(NM_001304480.1):c.2T>C (p.M1?), FGD4(NM_001385118.1):c.-335T>C - FGD4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-245-29728T>C r.(=) p.(=) Unknown - likely benign g.32687343T>C - FGD4(NM_001304480.1):c.2T>C (p.M1?), FGD4(NM_001385118.1):c.-335T>C - FGD4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-245-29719A>G r.(=) p.(=) Unknown - benign g.32687352A>G g.32534418A>G FGD4(NM_001304480.1):c.11A>G (p.K4R), FGD4(NM_001385118.1):c.-326A>G - FGD4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-245-29719A>G r.(=) p.(=) Unknown - benign g.32687352A>G g.32534418A>G FGD4(NM_001304480.1):c.11A>G (p.K4R), FGD4(NM_001385118.1):c.-326A>G - FGD4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-223C>T r.(?) p.(=) Unknown - likely benign g.32717093C>T g.32564159C>T FGD4(NM_001304480.1):c.114C>T (p.I38=) - FGD4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-36C>A r.(?) p.(=) Unknown - VUS g.32729256C>A g.32576322C>A FGD4(NM_001370298.3):c.376C>A (p.P126T) - FGD4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.0 r.0 p.0 Parent #2 ACMG likely pathogenic g.(?_32729291)_(32793468_?)del - del entire gene - FGD4_000038 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat62 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
?/. - c.50C>G r.(?) p.(Pro17Arg) Unknown - VUS g.32729341C>G g.32576407C>G FGD4(NM_139241.3):c.50C>G (p.P17R) - FGD4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.203C>T r.(?) p.(Ser68Phe) Parent #1 - likely benign g.32735004C>T - - - FGD4_000066 - PubMed: Hyun 2015 - rs544427828 Germline - 3/297 CMT families - - - DNA SEQ-NG - WES CMT - PubMed: Hyun 2015 3 families - - Korea Korea - - - - 3 Johan den Dunnen
?/. - c.236C>T r.(?) p.(Thr79Ile) Unknown - VUS g.32735037C>T g.32582103C>T FGD4(NM_139241.3):c.236C>T (p.T79I) - FGD4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236C>T r.(?) p.(Thr79Ile) Unknown - likely benign g.32735037C>T g.32582103C>T FGD4(NM_139241.3):c.236C>T (p.T79I) - FGD4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.255A>T r.(?) p.(Ala85=) Unknown - benign g.32735056A>T g.32582122A>T FGD4(NM_139241.3):c.255A>T (p.A85=) - FGD4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255A>T r.(?) p.(Ala85=) Unknown - likely benign g.32735056A>T - FGD4(NM_139241.3):c.255A>T (p.A85=) - FGD4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.374C>T r.(?) p.(Thr125Met) Parent #1 - likely benign g.32735175C>T - - - FGD4_000067 - PubMed: Hyun 2015 - rs200732890 Germline - 14/297 CMT families - - - DNA SEQ-NG - WES CMT - PubMed: Hyun 2015 14 families - - Korea Korea - - - - 14 Johan den Dunnen
?/. - c.381A>G r.(?) p.(Ile127Met) Unknown - VUS g.32735182A>G g.32582248A>G FGD4(NM_139241.3):c.381A>G (p.I127M) - FGD4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.397G>A r.(?) p.(Asp133Asn) Unknown - VUS g.32735198G>A g.32582264G>A FGD4(NM_139241.3):c.397G>A (p.D133N) - FGD4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.435C>T r.(?) p.(Asp145=) Unknown - benign g.32735236C>T g.32582302C>T FGD4(NM_139241.3):c.435C>T (p.D145=) - FGD4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479G>A r.(?) p.(Gly160Asp) Unknown - VUS g.32735280G>A - FGD4(NM_139241.3):c.479G>A (p.G160D) - FGD4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479G>A r.(?) p.(Gly160Asp) Unknown - likely benign g.32735280G>A - FGD4(NM_139241.3):c.479G>A (p.G160D) - FGD4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.497C>G r.(?) p.(Pro166Arg) Unknown - likely benign g.32735298C>G g.32582364C>G FGD4(NM_139241.3):c.497C>G (p.P166R) - FGD4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569T>A r.(?) p.(Leu190Gln) Unknown - VUS g.32735370T>A g.32582436T>A FGD4(NM_139241.3):c.569T>A (p.L190Q) - FGD4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664G>A r.(?) p.(Val222Ile) Unknown - VUS g.32751494G>A - FGD4(NM_001370298.3):c.1075G>A (p.(Val359Ile)) - FGD4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.670C>T r.(?) p.(Arg224*) Both (homozygous) - pathogenic g.32751500C>T g.32598566C>T - - FGD4_000006 - PubMed: Stendel 2007 - - Germline yes - - - - DNA SEQ - - CMT 17564972-FamCMT230 PubMed: Stendel 2007 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.670C>T r.(?) p.(Arg224Ter) Unknown - pathogenic g.32751500C>T g.32598566C>T FGD4(NM_139241.3):c.670C>T (p.R224*) - FGD4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.732G>A r.(?) p.(Ser244=) Unknown - benign g.32754253G>A g.32601319G>A FGD4(NM_139241.3):c.732G>A (p.S244=) - FGD4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.823C>T r.823c>u p.Arg275* Both (homozygous) - pathogenic g.32754344C>T g.32601410C>T 723C>T - FGD4_000007 - PubMed: Houlden 2009 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CMT 19221294-Fam PubMed: Houlden 2009 5-generation family, affected brother/sister, unaffected heterozygous carrier mother F;M - Ireland Belfast - - - - 2 Johan den Dunnen
-/. - c.836+10G>T r.(=) p.(=) Unknown - benign g.32754367G>T g.32601433G>T FGD4(NM_001304484.2):c.-216+10G>T - FGD4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.885C>T r.(?) p.(Phe295=) Unknown - benign g.32755143C>T - FGD4(NM_139241.3):c.885C>T (p.F295=) - FGD4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.893T>C r.(?) p.(Met298Thr) Unknown - pathogenic g.32755151T>C g.32602217T>C FGD4(NM_139241.3):c.893T>C (p.M298T) - FGD4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.893T>C r.893u>c p.Met298Thr Both (homozygous) - pathogenic g.32755151T>C g.32602217T>C - - FGD4_000008 - PubMed: Delague 2007 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CMT 17564959-Fam295 PubMed: Delague 2007 2-generation family, 4 affecteds (4M), unaffected heterozygous carrier parents M yes Algeria - - - - - 4 Johan den Dunnen
+/. - c.893T>G r.(?) p.(Met298Arg) Unknown - pathogenic g.32755151T>G g.32602217T>G FGD4(NM_139241.3):c.893T>G (p.M298R) - FGD4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.893T>G r.[=, 894_993del] p.[Met298Arg, Met298Ilefs*9] Both (homozygous) - pathogenic g.32755151T>G g.32602217T>G - - FGD4_000012 - PubMed: Delague 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMT 17564959-Fam500 PubMed: Delague 2007 5-generation family, 8 affected (F, 7M), unaffected heterozygous carrier parents/relatives F;M yes Lebanon - - - - - 8 Johan den Dunnen
+/. - c.893T>G r.(?) p.(Met298Arg) Both (homozygous) - pathogenic g.32755151T>G g.32602217T>G - - FGD4_000012 - PubMed: Stendel 2007 - - Germline - - - - - DNA SEQ - - CMT 17564972-FamCMT244 PubMed: Stendel 2007 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - - - - - 1 Johan den Dunnen
?/. - c.937G>A r.(?) p.(Val313Ile) Unknown - VUS g.32755195G>A - FGD4(NM_001370298.3):c.1348G>A (p.(Val450Ile)) - FGD4_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.993+8G>A r.(=) p.(=) Parent #1 - benign g.32755259G>A g.32602325G>A - - FGD4_000003 - - - rs12823621 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.993+8G>A r.(=) p.(=) Unknown - benign g.32755259G>A g.32602325G>A FGD4(NM_001304484.2):c.-59+8G>A - FGD4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1034T>C r.(?) p.(Met345Thr) Paternal (confirmed) - pathogenic (recessive) g.32760931T>C g.32607997T>C - - FGD4_000062 - PubMed: Hyun 2015 - - Germline - 1/297 patients - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES CMT FC646 PubMed: Hyun 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea Korea - - - - 1 Farina Kemper
-/. - c.1059C>T r.(?) p.(Pro353=) Unknown - benign g.32760956C>T g.32608022C>T FGD4(NM_001304484.2):c.27C>T (p.P9=) - FGD4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1060C>T r.(?) p.(Arg354Trp) Unknown - VUS g.32760957C>T g.32608023C>T FGD4(NM_001304484.2):c.28C>T (p.R10W) - FGD4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1085A>C r.(?) p.(Tyr362Ser) Parent #1 ACMG likely pathogenic g.32760982A>C g.32608048A>C - - FGD4_000039 ACMG pm1, pm2, pm3, pp3 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat62 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.1086dup r.(?) p.(Leu363Serfs*7) Parent #1 - VUS g.32760983dup - 1086_1087insT - FGD4_000069 - PubMed: Hyun 2015 - - Germline - 1/297 CMT families - - - DNA SEQ-NG - WES CMT - PubMed: Hyun 2015 - - - Korea Korea - - - - 1 Johan den Dunnen
-?/. - c.1132+17dup r.(=) p.(=) Unknown - likely benign g.32761046dup g.32608112dup FGD4(NM_001304484.2):c.100+17dupT - FGD4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1192-2A>G r.spl? p.? Unknown - VUS g.32764069A>G g.32611135A>G FGD4(NM_001304484.2):c.160-2A>G - FGD4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1305G>A r.(?) p.(Arg435=) Unknown - benign g.32764184G>A g.32611250G>A FGD4(NM_001304484.2):c.273G>A (p.R91=), FGD4(NM_139241.3):c.1305G>A (p.R435=) - FGD4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1305G>A r.(?) p.(Arg435=) Unknown - benign g.32764184G>A g.32611250G>A FGD4(NM_001304484.2):c.273G>A (p.R91=), FGD4(NM_139241.3):c.1305G>A (p.R435=) - FGD4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1325G>A r.(?) p.(Arg442His) Both (homozygous) - pathogenic (recessive) g.32764204G>A g.32611270G>A - - FGD4_000060 - PubMed: Baudot 2012 - - Germline - - - - - DNA SEQ - - CMT Pat2 PubMed: Baudot 2012 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Algeria - >16y - - - 1 Sarah El-Bestawi
+?/. - c.1329C>A r.(?) p.(Tyr443*) Unknown - likely pathogenic (recessive) g.32764208C>A g.32611274C>A - - FGD4_000057 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-FGD4-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.1329C>A r.(?) p.(Tyr443*) Unknown - likely pathogenic (recessive) g.32764208C>A g.32611274C>A - - FGD4_000057 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-FGD4-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.1339-12C>T r.(=) p.(=) Unknown - benign g.32772620C>T g.32619686C>T FGD4(NM_139241.3):c.1339-12C>T - FGD4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1348A>G r.(?) p.(Met450Val) Unknown - likely benign g.32772641A>G g.32619707A>G FGD4(NM_001304484.1):c.316A>G (p.M106V) - FGD4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1366C>A r.(?) p.(Pro456Thr) Unknown - VUS g.32772659C>A g.32619725C>A FGD4(NM_001304484.2):c.334C>A (p.P112T), FGD4(NM_139241.3):c.1366C>A (p.P456T) - FGD4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1366C>A r.(?) p.(Pro456Thr) Unknown - likely benign g.32772659C>A g.32619725C>A FGD4(NM_001304484.2):c.334C>A (p.P112T), FGD4(NM_139241.3):c.1366C>A (p.P456T) - FGD4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1402C>A r.(?) p.(Arg468=) Unknown - likely benign g.32772695C>A - FGD4(NM_001304484.2):c.370C>A (p.R124=) - FGD4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1403G>A r.(?) p.(Arg468Gln) Paternal (confirmed) - pathogenic (recessive) g.32772696G>A g.32619762G>A - - FGD4_000063 - PubMed: Hyun 2015 - - Germline - 1/297 patients - - - DNA SEQ-NG - WES CMT FC73 PubMed: Hyun 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea Korea - - - - 1 Farina Kemper
+/. - c.1512-2A>G r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.32777354A>G g.32624420A>G - - FGD4_000065 - PubMed: Hyun 2015 - - Germline - - - - - DNA SEQ-NG - WES CMT FC73 PubMed: Hyun 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea Korea - - - - 1 Farina Kemper
-/. - c.1515T>C r.(?) p.(Ser505=) Unknown - benign g.32777359T>C g.32624425T>C FGD4(NM_001304484.2):c.483T>C (p.S161=) - FGD4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1518G>A r.(?) p.(Ala506=) Unknown - benign g.32777362G>A g.32624428G>A FGD4(NM_001304484.2):c.486G>A (p.A162=), FGD4(NM_139241.3):c.1518G>A (p.A506=) - FGD4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1518G>A r.(?) p.(Ala506=) Unknown - benign g.32777362G>A g.32624428G>A FGD4(NM_001304484.2):c.486G>A (p.A162=), FGD4(NM_139241.3):c.1518G>A (p.A506=) - FGD4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1542+7C>T r.(=) p.(=) Unknown - likely benign g.32777393C>T - FGD4(NM_001370298.3):c.1953+7C>T - FGD4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1543-21T>G r.(=) p.(=) Unknown - benign g.32777889T>G g.32624955T>G FGD4(NM_001304484.2):c.511-21T>G - FGD4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1543-8T>C r.(=) p.(=) Unknown - benign g.32777902T>C g.32624968T>C FGD4(NM_001304484.2):c.511-8T>C, FGD4(NM_139241.3):c.1543-8T>C - FGD4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1543-8T>C r.(=) p.(=) Unknown - benign g.32777902T>C - FGD4(NM_001304484.2):c.511-8T>C, FGD4(NM_139241.3):c.1543-8T>C - FGD4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1550A>C r.(?) p.(Gln517Pro) Both (homozygous) - pathogenic (recessive) g.32777917A>C - - - FGD4_000071 - - - - Germline yes - - - - DNA SEQ blood - CMT4H - - - F - Egypt - - - - - 3 Sherifa Ahmed Hamed
-/. - c.1560C>T r.(?) p.(Ile520=) Unknown - benign g.32777927C>T g.32624993C>T FGD4(NM_001304484.2):c.528C>T (p.I176=) - FGD4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1583A>C r.(?) p.(Glu528Ala) Parent #1 - VUS g.32777950A>C - - - FGD4_000070 - PubMed: Hyun 2015 - - Germline - 2/297 CMT families - - - DNA SEQ-NG - WES CMT - PubMed: Hyun 2015 2 families - - Korea Korea - - - - 2 Johan den Dunnen
+/. 13 c.1628_1629del r.(?) p.(Glu543Glyfs*5) Both (homozygous) - pathogenic g.32777995_32777996del g.32625061_32625062del 1628_1629delAG - FGD4_000004 - PubMed: Stendel 2007 - - Germline yes - - - - DNA SEQ - - CMT 17564972-FamNP447 PubMed: Stendel 2007 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
-/. - c.1636-7T>C r.(=) p.(=) Unknown - benign g.32778581T>C g.32625647T>C FGD4(NM_001304484.2):c.604-7T>C - FGD4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1659C>G r.(?) p.(Ala553=) Unknown - benign g.32778611C>G g.32625677C>G FGD4(NM_001304484.2):c.627C>G (p.A209=), FGD4(NM_139241.3):c.1659C>G (p.A553=) - FGD4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1659C>G r.(?) p.(Ala553=) Unknown - likely benign g.32778611C>G - FGD4(NM_001304484.2):c.627C>G (p.A209=), FGD4(NM_139241.3):c.1659C>G (p.A553=) - FGD4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1698G>A r.1698g>A p.Met566Ile Both (homozygous) - pathogenic (recessive) g.32778650G>A g.32625716G>A - - FGD4_000061 not in 300 control chromosomes PubMed: Baudot 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMT Pat1 PubMed: Baudot 2012 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - >21y - - - 1 Sarah El-Bestawi
-?/. - c.1711C>A r.(?) p.(Pro571Thr) Unknown - likely benign g.32778663C>A g.32625729C>A FGD4(NM_001304484.2):c.679C>A (p.P227T) - FGD4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1747C>T r.(?) p.(Arg583*) Parent #1 - VUS g.32778699C>T - - - FGD4_000068 - PubMed: Hyun 2015 - - Germline - 1/297 CMT families - - - DNA SEQ-NG - WES CMT - PubMed: Hyun 2015 - - - Korea Korea - - - - 1 Johan den Dunnen
+/. - c.1756G>T r.(?) p.(Gly586Ter) Unknown - pathogenic g.32778708G>T g.32625774G>T FGD4(NM_139241.3):c.1756G>T (p.G586*) - FGD4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1756G>T r.(?) p.(Gly586*) Both (homozygous) - pathogenic g.32778708G>T g.32625774G>T - - FGD4_000005 - PubMed: Stendel 2007 - - Germline - - - - - DNA SEQ - - CMT 17564972-FamNP3 PubMed: Stendel 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? India Tamil - - - - 1 Johan den Dunnen
?/. - c.1902+229G>A r.(=) p.(=) Parent #1 - VUS g.32786852G>A g.32633918G>A - - FGD4_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 16i c.2043+1G>A r.1989_2043del p.Cys684Thrfs*30 Maternal (confirmed) - pathogenic (recessive) g.32791730G>A g.32638796G>A - - FGD4_000064 - PubMed: Hyun 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES CMT FC646 PubMed: Hyun 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea Korea - - - - 1 Farina Kemper
-/. - c.2043+67G>A r.(=) p.(=) Unknown - benign g.32791796G>A g.32638862G>A FGD4(NM_139241.3):c.2043+67G>A - FGD4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2044-46A>G r.(=) p.(=) Parent #1 - VUS g.32793164A>G g.32640230A>G - - FGD4_000002 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.2095A>G r.(?) p.(Met699Val) Unknown - VUS g.32793261A>G g.32640327A>G FGD4(NM_001304484.2):c.1063A>G (p.M355V) - FGD4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2097G>A r.(?) p.(Met699Ile) Unknown - VUS g.32793263G>A - FGD4(NM_001304484.2):c.1065G>A (p.M355I) - FGD4_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2149G>A r.(?) p.(Val717Met) Unknown - VUS g.32793315G>A g.32640381G>A FGD4(NM_001304484.1):c.1117G>A (p.V373M), FGD4(NM_001304484.2):c.1117G>A (p.V373M) - FGD4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2149G>A r.(?) p.(Val717Met) Parent #1 - VUS g.32793315G>A g.32640381G>A - - FGD4_000024 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61753359 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.2149G>A r.(?) p.(Val717Met) Unknown - VUS g.32793315G>A g.32640381G>A FGD4(NM_001304484.1):c.1117G>A (p.V373M), FGD4(NM_001304484.2):c.1117G>A (p.V373M) - FGD4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1133A>C r.(=) p.(=) Unknown - benign g.32794600A>C g.32641666A>C FGD4(NM_139241.3):c.*1133A>C - FGD4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1454A>G r.(=) p.(=) Unknown - benign g.32794921A>G g.32641987A>G FGD4(NM_139241.3):c.*1454A>G - FGD4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1492T>G r.(=) p.(=) Unknown - benign g.32794959T>G g.32642025T>G FGD4(NM_139241.3):c.*1492T>G - FGD4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1954A>G r.(=) p.(=) Unknown - benign g.32795421A>G g.32642487A>G FGD4(NM_139241.3):c.*1954A>G - FGD4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3770G>T r.(=) p.(=) Unknown - benign g.32797237G>T g.32644303G>T FGD4(NM_139241.3):c.*3770G>T - FGD4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4063A>G r.(=) p.(=) Unknown - likely benign g.32797530A>G - FGD4(NM_001384126.1):c.2635A>G (p.R879G) - FGD4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4438A>G r.(=) p.(=) Unknown - benign g.32797905A>G g.32644971A>G FGD4(NM_139241.3):c.*4438A>G - FGD4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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