Full data view for gene PLEKHG5

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_020631.4 transcript reference sequence.

160 entries on 2 pages. Showing entries 1 - 100.
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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.-28234G>A r.(?) p.(=) Unknown - benign g.6579843C>T g.6519783C>T PLEKHG5(NM_198681.4):c.-503G>A - NOL9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-28044C>G r.(?) p.(=) Unknown - benign g.6579653G>C g.6519593G>C PLEKHG5(NM_198681.4):c.-313C>G - NOL9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27998G>A r.(?) p.(=) Unknown - benign g.6579607C>T g.6519547C>T PLEKHG5(NM_198681.4):c.-267G>A - NOL9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27912C>G r.(?) p.(=) Unknown - benign g.6579521G>C g.6519461G>C PLEKHG5(NM_198681.4):c.-181C>G - NOL9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27501T>C r.(?) p.(=) Unknown - benign g.6579110A>G g.6519050A>G PLEKHG5(NM_198681.4):c.-165+395T>C - NOL9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5400T>G r.(?) p.(=) Unknown - benign g.6557009A>C g.6496949A>C PLEKHG5(NM_198681.4):c.-164-380T>G - PLEKHG5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 c.-4984del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.6556593del g.6496533del NM_198681.3:c.104delG - PLEKHG5_000084 - PubMed: Villar-Quiles 2021 - - Germline yes - - - - DNA SEQ-NG - gene panel CMT Fam2PatII4/6 PubMed: Villar-Quiles 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Cote D'Ivoire (Ivory Coast) - - - - - 2 Johan den Dunnen
?/. - c.-4976C>T r.(?) p.(=) Unknown - VUS g.6556585G>A g.6496525G>A PLEKHG5(NM_198681.3):c.112C>T (p.P38S), PLEKHG5(NM_198681.4):c.-120C>T - PLEKHG5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4976C>T r.(?) p.(=) Unknown - likely benign g.6556585G>A g.6496525G>A PLEKHG5(NM_198681.3):c.112C>T (p.P38S), PLEKHG5(NM_198681.4):c.-120C>T - PLEKHG5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-88+6188G>A r.(=) p.(=) Unknown - benign g.6545509C>T g.6485449C>T PLEKHG5(NM_001265593.1):c.-6G>A - PLEKHG5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-88+6307T>A r.(=) p.(=) Unknown - benign g.6545390A>T g.6485330A>T PLEKHG5(NM_001265593.1):c.114T>A (p.D38E) - PLEKHG5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-88+6328C>T r.(=) p.(=) Unknown - benign g.6545369G>A - PLEKHG5(NM_001265593.1):c.120+15C>T - PLEKHG5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.6556616_6556620del g.6496556_6496560del NM_198681.3:c.79_83del (Pro27Ter) - PLEKHG5_000074 - PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam1Pat1 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Iran - - - - - 1 Johan den Dunnen
+/. _1 - r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.6556616_6556620del g.6496556_6496560del NM_198681.3:c.79_83del (Pro27Ter) - PLEKHG5_000074 - PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam2Pat2 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Iran - - - - - 1 Johan den Dunnen
+/. - - r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.6556616_6556620del g.6496556_6496560del NM_198681.3:c.79_83del (Pro27Ter) - PLEKHG5_000074 - PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam3Pat3 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - 1 Johan den Dunnen
-/. - c.30C>T r.(?) p.(Asp10=) Unknown - benign g.6537602G>A g.6477542G>A PLEKHG5(NM_198681.4):c.30C>T (p.D10=) - PLEKHG5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33T>C r.(?) p.(Leu11=) Unknown - likely benign g.6537599A>G g.6477539A>G PLEKHG5(NM_198681.4):c.33T>C (p.L11=) - PLEKHG5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.34C>A r.(?) p.(Pro12Thr) Unknown - VUS g.6537598G>T g.6477538G>T PLEKHG5(NM_198681.4):c.34C>A (p.P12T) - PLEKHG5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.38del r.(?) p.(Pro13Hisfs*45) Both (homozygous) - pathogenic (recessive) g.6537598del g.6477538del NM_198681.3:c.269delC - PLEKHG5_000070 - PubMed: Azzedine 2013 - - Germline yes - - - - DNA SEQ - - CMT Fam221Pat221.13 PubMed: Azzedine 2013 3-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Portugal - - - - - 2 Johan den Dunnen
+/. - c.38del r.(?) p.(Pro13Hisfs*45) Both (homozygous) - pathogenic (recessive) g.6537598del g.6477538del - - PLEKHG5_000070 - PubMed: Azzedine 2013 - - Germline yes - - - - DNA SEQ - - CMT Fam221Pat221.17 PubMed: Azzedine 2013 sister F yes Portugal - - - - - 1 Johan den Dunnen
+?/. - c.43+1G>A r.spl? p.? Unknown - likely pathogenic g.6537588C>T - PLEKHG5(NM_198681.4):c.43+1G>A - PLEKHG5_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43+13G>A r.(=) p.(=) Unknown - benign g.6537576C>T g.6477516C>T PLEKHG5(NM_198681.4):c.43+13G>A - PLEKHG5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43+14_43+20del r.(=) p.(=) Unknown - benign g.6537571_6537577del g.6477511_6477517del PLEKHG5(NM_198681.3):c.274+14_274+20delGGAGCCG, PLEKHG5(NM_198681.4):c.43+14_43+20delGGAGCCG - PLEKHG5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.43+14_43+20del r.(=) p.(=) Unknown - likely benign g.6537571_6537577del - PLEKHG5(NM_198681.3):c.274+14_274+20delGGAGCCG, PLEKHG5(NM_198681.4):c.43+14_43+20delGGAGCCG - PLEKHG5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.58del r.(?) p.(Arg20Glyfs*38) Both (homozygous) - pathogenic (recessive) g.6536084del g.6476024del NM_198681.3:c.289delC - PLEKHG5_000076 - PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam6Pat9/10 PubMed: Chen 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Turkey - - - - - 2 Johan den Dunnen
+?/. - c.59G>A r.(?) p.(Arg20Gln) Both (homozygous) - likely pathogenic (recessive) g.6536081C>T g.6476021C>T NM_198681.3:c.290G>A (Arg97Gln) - PLEKHG5_000068 - PubMed: Beijer 2022, Journal: Beijer 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT patient PubMed: Beijer 2022, Journal: Beijer 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States India - - - - 1 Johan den Dunnen
-?/. - c.87G>A r.(?) p.(Pro29=) Unknown - likely benign g.6536053C>T - PLEKHG5(NM_198681.4):c.87G>A (p.P29=) - PLEKHG5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88C>T r.(?) p.(Arg30Cys) Unknown - VUS g.6536052G>A g.6475992G>A PLEKHG5(NM_198681.4):c.88C>T (p.R30C) - PLEKHG5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186G>A r.(?) p.(Lys62=) Unknown - likely benign g.6535546C>T g.6475486C>T PLEKHG5(NM_198681.4):c.186G>A (p.K62=) - PLEKHG5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.260T>C r.(?) p.(Ile87Thr) Unknown - benign g.6535149A>G g.6475089A>G PLEKHG5(NM_198681.4):c.260T>C (p.I87T) - PLEKHG5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269A>G r.(?) p.(Glu90Gly) Unknown - VUS g.6535140T>C g.6475080T>C - - PLEKHG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274G>A r.(?) p.(Val92Ile) Unknown - VUS g.6535135C>T g.6475075C>T PLEKHG5(NM_198681.3):c.505G>A (p.V169I) - PLEKHG5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292_294del r.(?) p.(Lys98del) Unknown - VUS g.6535122_6535124del g.6475062_6475064del - - PLEKHG5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307G>A r.(?) p.(Val103Met) Unknown - VUS g.6534643C>T g.6474583C>T PLEKHG5(NM_198681.3):c.538G>A (p.V180M), PLEKHG5(NM_198681.4):c.307G>A (p.V103M) - PLEKHG5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307G>A r.(?) p.(Val103Met) Parent #1 - VUS g.6534643C>T g.6474583C>T - - PLEKHG5_000043 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141032388 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.307G>A r.(?) p.(Val103Met) Unknown - likely benign g.6534643C>T - PLEKHG5(NM_198681.3):c.538G>A (p.V180M), PLEKHG5(NM_198681.4):c.307G>A (p.V103M) - PLEKHG5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335G>T r.(?) p.(Gly112Val) Unknown - VUS g.6534615C>A g.6474555C>A PLEKHG5(NM_198681.4):c.335G>T (p.G112V) - PLEKHG5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335G>T r.(?) p.(Gly112Val) Unknown - VUS g.6534615C>A - PLEKHG5(NM_198681.4):c.335G>T (p.G112V) - PLEKHG5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.414C>T r.(?) p.(Phe138=) Unknown - benign g.6534536G>A g.6474476G>A PLEKHG5(NM_198681.4):c.414C>T (p.F138=) - PLEKHG5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431G>T r.(?) p.(Arg144Leu) Unknown - VUS g.6534519C>A g.6474459C>A PLEKHG5(NM_198681.3):c.662G>T (p.R221L), PLEKHG5(NM_198681.4):c.431G>T (p.R144L) - PLEKHG5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431G>T r.(?) p.(Arg144Leu) Unknown - VUS g.6534519C>A - PLEKHG5(NM_198681.3):c.662G>T (p.R221L), PLEKHG5(NM_198681.4):c.431G>T (p.R144L) - PLEKHG5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.439+12C>G r.(=) p.(=) Unknown - likely benign g.6534499G>C g.6474439G>C PLEKHG5(NM_198681.4):c.439+12C>G - PLEKHG5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.440-6A>G r.(=) p.(=) Unknown - likely benign g.6534230T>C - PLEKHG5(NM_198681.3):c.671-6A>G, PLEKHG5(NM_198681.4):c.440-6A>G - PLEKHG5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.440-6A>G r.(=) p.(=) Unknown - likely benign g.6534230T>C - PLEKHG5(NM_198681.3):c.671-6A>G, PLEKHG5(NM_198681.4):c.440-6A>G - PLEKHG5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532G>A r.(?) p.(Gly178Arg) Unknown - VUS g.6534132C>T g.6474072C>T PLEKHG5(NM_198681.4):c.532G>A (p.G178R) - PLEKHG5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558C>T r.(?) p.(Asp186=) Unknown - likely benign g.6534106G>A - PLEKHG5(NM_001265593.1):c.765C>T (p.D255=) - PLEKHG5_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.592-14C>T r.(=) p.(=) Unknown - benign g.6533528G>A g.6473468G>A PLEKHG5(NM_198681.4):c.592-14C>T - PLEKHG5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.691G>A r.(?) p.(Gly231Ser) Unknown - likely benign g.6533415C>T - PLEKHG5(NM_198681.4):c.691G>A (p.G231S) - PLEKHG5_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.713C>G r.(?) p.(Thr238Ser) Unknown - benign g.6533393G>C g.6473333G>C PLEKHG5(NM_198681.4):c.713C>G (p.T238S) - PLEKHG5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719A>G r.(?) p.(Asp240Gly) Unknown - VUS g.6533387T>C g.6473327T>C PLEKHG5(NM_198681.3):c.950A>G (p.D317G), PLEKHG5(NM_198681.4):c.719A>G (p.D240G) - PLEKHG5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719A>G r.(?) p.(Asp240Gly) Unknown - VUS g.6533387T>C g.6473327T>C PLEKHG5(NM_198681.3):c.950A>G (p.D317G), PLEKHG5(NM_198681.4):c.719A>G (p.D240G) - PLEKHG5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768C>T r.(?) p.(Ser256=) Unknown - likely benign g.6533338G>A g.6473278G>A PLEKHG5(NM_198681.3):c.999C>T (p.S333=), PLEKHG5(NM_198681.4):c.768C>T (p.S256=) - PLEKHG5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768C>T r.(?) p.(Ser256=) Unknown - likely benign g.6533338G>A - PLEKHG5(NM_198681.3):c.999C>T (p.S333=), PLEKHG5(NM_198681.4):c.768C>T (p.S256=) - PLEKHG5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.795+8G>A r.(=) p.(=) Unknown - benign g.6533303C>T - PLEKHG5(NM_001265593.1):c.1002+8G>A - PLEKHG5_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.865C>T r.(?) p.(Pro289Ser) Unknown - VUS g.6533165G>A - PLEKHG5(NM_001265593.1):c.1072C>T (p.P358S) - PLEKHG5_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.882C>T r.(?) p.(=) Unknown - likely benign g.6533148G>A - PLEKHG5(NM_198681.3):c.1113C>T (p.F371=) - PLEKHG5_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.912_918dup r.(?) p.(Glu307Ter) Unknown - pathogenic g.6533112_6533118dup g.6473052_6473058dup PLEKHG5(NM_001265593.1):c.1119_1125dupTGAAGAC (p.E376*) - PLEKHG5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.912_918dup r.(?) p.(Glu307*) Both (homozygous) - pathogenic (recessive) g.6533112_6533118dup g.6473052_6473058dup NM_198681.3:c.1143_1149dup - PLEKHG5_000056 - PubMed: Azzedine 2013 - - Germline yes - - - - DNA SEQ - - CMT FamNP72Pat4 PubMed: Azzedine 2013 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents/relatives M - Morocco - - - - - 4 Johan den Dunnen
+/. - c.912_918dup r.(?) p.(Glu307*) Both (homozygous) - pathogenic (recessive) g.6533112_6533118dup g.6473052_6473058dup - - PLEKHG5_000056 - PubMed: Azzedine 2013 - - Germline yes - - - - DNA SEQ - - CMT FamNP72Pat5 PubMed: Azzedine 2013 sister F - Morocco - - - - - 1 Johan den Dunnen
+/. - c.912_918dup r.(?) p.(Glu307*) Both (homozygous) - pathogenic (recessive) g.6533112_6533118dup g.6473052_6473058dup - - PLEKHG5_000056 - PubMed: Azzedine 2013 - - Germline yes - - - - DNA SEQ - - CMT FamNP72Pat9 PubMed: Azzedine 2013 brother M yes Morocco - - - - - 1 Johan den Dunnen
?/. - c.912_918dup r.(?) p.(Glu307Ter) Unknown - VUS g.6533112_6533118dup - PLEKHG5(NM_001265593.1):c.1119_1125dupTGAAGAC (p.E376*) - PLEKHG5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.918C>T r.(?) p.(Asp306=) Unknown - likely benign g.6533112G>A - PLEKHG5(NM_198681.3):c.1149C>T (p.D383=), PLEKHG5(NM_198681.4):c.918C>T (p.D306=) - PLEKHG5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.918C>T r.(?) p.(Asp306=) Unknown - likely benign g.6533112G>A - PLEKHG5(NM_198681.3):c.1149C>T (p.D383=), PLEKHG5(NM_198681.4):c.918C>T (p.D306=) - PLEKHG5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928G>A r.(?) p.(Asp310Asn) Unknown - VUS g.6533102C>T g.6473042C>T PLEKHG5(NM_198681.3):c.1159G>A (p.D387N), PLEKHG5(NM_198681.4):c.928G>A (p.D310N) - PLEKHG5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.928G>A r.(?) p.(Asp310Asn) Unknown - likely benign g.6533102C>T g.6473042C>T PLEKHG5(NM_198681.3):c.1159G>A (p.D387N), PLEKHG5(NM_198681.4):c.928G>A (p.D310N) - PLEKHG5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.982G>T r.(?) p.(Glu328*) Parent #2 - pathogenic (recessive) g.6533048C>A - c.1219G>T - PLEKHG5_000081 - PubMed: Miao 2021 - - Germline - - - - - DNA SEQ-NG - - CMT patient PubMed: Miao 2021 - F - China - - - - - 1 Johan den Dunnen
-?/. - c.985-56C>T r.(=) p.(=) Unknown - likely benign g.6532738G>A g.6472678G>A PLEKHG5(NM_198681.4):c.985-56C>T - PLEKHG5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994C>T r.(?) p.(Arg332Trp) Unknown - VUS g.6532673G>A g.6472613G>A PLEKHG5(NM_198681.3):c.1225C>T (p.R409W), PLEKHG5(NM_198681.4):c.994C>T (p.R332W) - PLEKHG5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994C>T r.(?) p.(Arg332Trp) Unknown - VUS g.6532673G>A g.6472613G>A PLEKHG5(NM_198681.3):c.1225C>T (p.R409W), PLEKHG5(NM_198681.4):c.994C>T (p.R332W) - PLEKHG5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994C>T r.(?) p.(Arg332Trp) Parent #1 - VUS g.6532673G>A g.6472613G>A - - PLEKHG5_000026 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140202670 Germline - 5/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.997C>A r.(?) p.(Arg333=) Unknown - likely benign g.6532670G>T - PLEKHG5(NM_198681.4):c.997C>A (p.R333=) - PLEKHG5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023G>A r.(?) p.(=) Unknown - likely benign g.6532644C>T - PLEKHG5(NM_001265593.1):c.1230G>A (p.V410=) - PLEKHG5_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1080+13T>C r.(=) p.(=) Unknown - likely benign g.6532574A>G - PLEKHG5(NM_198681.4):c.1080+13T>C - PLEKHG5_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1081-98G>A r.(=) p.(=) Unknown - benign g.6531966C>T g.6471906C>T PLEKHG5(NM_198681.4):c.1081-98G>A - ESPN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106T>C r.(?) p.(Leu369Pro) Unknown - VUS g.6531843A>G g.6471783A>G - - ESPN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1112A>C r.(?) p.(Glu371Ala) Unknown ACMG VUS g.6531837T>G g.6471777T>G - - PLEKHG5_000060 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.1133T>G r.(?) p.(Val378Gly) Both (homozygous) - likely pathogenic (recessive) g.6531696A>C g.6471636A>C NM_198681.3:c.1364T>G - PLEKHG5_000079 - PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam9Pat13 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - 1 Johan den Dunnen
-/. - c.1179G>A r.(?) p.(Leu393=) Unknown - benign g.6531650C>T g.6471590C>T PLEKHG5(NM_198681.4):c.1179G>A (p.L393=) - PLEKHG5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236G>A r.(?) p.(Thr412=) Unknown - likely benign g.6531593C>T g.6471533C>T PLEKHG5(NM_198681.4):c.1236G>A (p.T412=) - PLEKHG5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1240G>A r.(?) p.(Ala414Thr) Unknown - benign g.6531589C>T g.6471529C>T PLEKHG5(NM_198681.4):c.1240G>A (p.A414T) - PLEKHG5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1254C>G r.(?) p.(Pro418=) Unknown - benign g.6531575G>C g.6471515G>C PLEKHG5(NM_198681.3):c.1485C>G (p.P495=), PLEKHG5(NM_198681.4):c.1254C>G (p.P418=) - PLEKHG5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254C>G r.(?) p.(Pro418=) Unknown - likely benign g.6531575G>C - PLEKHG5(NM_198681.3):c.1485C>G (p.P495=), PLEKHG5(NM_198681.4):c.1254C>G (p.P418=) - PLEKHG5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1318A>G r.(?) p.(Met440Val) Unknown - benign g.6531124T>C g.6471064T>C PLEKHG5(NM_198681.4):c.1318A>G (p.M440V) - PLEKHG5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1393-22dup r.(=) p.(=) Unknown - benign g.6530968dup g.6470908dup PLEKHG5(NM_198681.4):c.1393-22dupC - ESPN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1405C>T r.(?) p.(His469Tyr) Unknown - VUS g.6530932G>A g.6470872G>A - - PLEKHG5_000065 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? R-0612 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.1417C>T r.(?) p.(Gln473*) Both (homozygous) - pathogenic (recessive) g.6530920G>A g.6470860G>A NM_198681.3:c.1648C>T - PLEKHG5_000075 - PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam4Pat4/5/6 PubMed: Chen 2021 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F;M - Turkey - - - - - 3 Johan den Dunnen
+?/. - c.1438A>C r.(?) p.(Met480Leu) Both (homozygous) - likely pathogenic (recessive) g.6530899T>G g.6470839T>G NM_198681.3:c.1669A>C - PLEKHG5_000077 - PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam7Pat11 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Syria - - - - - 1 Johan den Dunnen
?/. - c.1514C>T r.(?) p.(Pro505Leu) Unknown - VUS g.6530823G>A g.6470763G>A - - PLEKHG5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1543-44_1543-40dup r.(=) p.(=) Unknown - likely benign g.6530744_6530748dup g.6470684_6470688dup PLEKHG5(NM_198681.4):c.1543-44_1543-40dupCTCCG - ESPN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1549_1550del r.(?) p.(Ser517Argfs*137) Unknown - likely pathogenic g.6530697_6530698del - PLEKHG5(NM_198681.3):c.1780_1781delTC (p.S594Rfs*137) - ESPN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1576A>G r.(?) p.(Asn526Asp) Unknown - VUS g.6530670T>C g.6470610T>C PLEKHG5(NM_198681.4):c.1576A>G (p.N526D) - ESPN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1604_1629del r.(?) p.(Arg535Profs*111) Parent #1 - pathogenic (recessive) g.6530621_6530646del g.6470561_6470586del NM_198681.3:c.1835_1860del - PLEKHG5_000082 - PubMed: Villar-Quiles 2021 - - Germline - - - - - DNA SEQ - gene panel CMT Fam1PatIII4/5 PubMed: Villar-Quiles 2021 3-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no Viet Nam - - - - - 2 Johan den Dunnen
?/. - c.1639G>A r.(?) p.(Ala547Thr) Unknown - VUS g.6530607C>T - PLEKHG5(NM_198681.4):c.1639G>A (p.A547T) - ESPN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1680+19G>A r.(=) p.(=) Unknown - likely benign g.6530547C>T - PLEKHG5(NM_198681.3):c.1911+19G>A - ESPN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1681-20T>C r.(=) p.(=) Unknown - benign g.6530435A>G g.6470375A>G PLEKHG5(NM_198681.4):c.1681-20T>C - ESPN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681-8G>C r.(=) p.(=) Unknown - likely benign g.6530423C>G g.6470363C>G PLEKHG5(NM_198681.4):c.1681-8G>C - ESPN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1705G>A r.(?) p.(Asp569Asn) Unknown - VUS g.6530391C>T g.6470331C>T PLEKHG5(NM_198681.4):c.1705G>A (p.D569N) - ESPN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1709T>C r.(?) p.(Leu570Ser) Unknown - VUS g.6530387A>G g.6470327A>G PLEKHG5(NM_198681.4):c.1709T>C (p.L570S) - PLEKHG5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1724C>T r.(?) p.(Pro575Leu) Unknown - likely benign g.6530372G>A - PLEKHG5(NM_198681.3):c.1955C>T (p.P652L) - ESPN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1800+107C>T r.(=) p.(=) Unknown - benign g.6530189G>A g.6470129G>A PLEKHG5(NM_198681.4):c.1800+107C>T - PLEKHG5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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