Full data view for gene PRX

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

147 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     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     
-/. - c.-242-1975C>T r.(=) p.(=) Unknown - benign g.40916265G>A g.40410358G>A PRX(NM_020956.2):c.-242-1975C>T - PRX_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-201C>T r.(=) p.(=) Parent #1 - VUS g.40914249G>A g.40408342G>A - - PRX_000056 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.-141G>A r.(=) p.(=) Parent #1 - VUS g.40914106C>T g.40408199C>T - - PRX_000070 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.-20A>C r.(?) p.(=) Unknown - VUS g.40913859T>G g.40407952T>G PRX(NM_020956.2):c.-20A>C - PRX_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>C r.(?) p.(Met1?) Unknown - VUS g.40913838A>G g.40407931A>G PRX(NM_020956.2):c.2T>C (p.M1?) - PRX_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.28-52G>A r.(=) p.(=) Parent #1 - benign g.40909821C>T g.40403914C>T - - PRX_000071 - - - rs2613842 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 4i_5i c.(27+1_28-1)_(184+1_185-1)del r.? p.? Parent #1 ACMG likely pathogenic g.(45596564_45601452)_(45601610_45605652)del - - - PRX_000075 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat85 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
-?/. - c.44A>G r.(?) p.(Glu15Gly) Unknown - likely benign g.40909753T>C g.40403846T>C PRX(NM_020956.2):c.44A>G (p.E15G) - PRX_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.46T>G r.(?) p.(Leu16Val) Unknown - likely benign g.40909751A>C g.40403844A>C PRX(NM_020956.2):c.46T>G (p.L16V) - PRX_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.50T>G r.(?) p.(Val17Gly) Unknown - likely benign g.40909747A>C g.40403840A>C PRX(NM_020956.2):c.50T>G (p.V17G) - PRX_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.53A>G r.(?) p.(Glu18Gly) Unknown - likely benign g.40909744T>C g.40403837T>C PRX(NM_020956.2):c.53A>G (p.E18G) - PRX_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.65A>G r.(?) p.(Glu22Gly) Unknown - likely benign g.40909732T>C g.40403825T>C PRX(NM_020956.2):c.65A>G (p.E22G) - PRX_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.133C>G r.(?) p.(Arg45Gly) Unknown - benign g.40909664G>C g.40403757G>C PRX(NM_020956.2):c.133C>G (p.R45G) - PRX_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.133C>G r.(?) p.(Arg45Gly) Unknown - likely benign g.40909664G>C g.40403757G>C PRX(NM_020956.2):c.133C>G (p.R45G) - PRX_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.176T>C r.(?) p.(Leu59Pro) Unknown - pathogenic g.40909621A>G g.40403714A>G PRX(NM_020956.2):c.176T>C (p.L59P) - PRX_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.247del r.(?) p.(Leu83Cysfs*14) Unknown - pathogenic g.40904662del g.40398755del c.247delC - PRX_000013 - PubMed: Takashima 2002 - - Germline - - - 0 - DNA SEQ - - DejerineSottas - PubMed: Takashima 2002 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.306C>T r.(?) p.(Thr102=) Unknown - benign g.40904602G>A g.40398695G>A PRX(NM_020956.2):c.306C>T (p.T102=) - PRX_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.306C>T r.(?) p.(Thr102=) Unknown - benign g.40904602G>A g.40398695G>A PRX(NM_020956.2):c.306C>T (p.T102=) - PRX_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.306C>T r.(?) p.(Thr102=) Unknown - benign g.40904602G>A g.40398695G>A PRX(NM_020956.2):c.306C>T (p.T102=) - PRX_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.381+81C>T r.(=) p.(=) Unknown - likely benign g.40904446G>A g.40398539G>A PRX(NM_020956.2):c.*18C>T - PRX_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.385_394dup r.(?) p.(Leu132Hisfs*22) Unknown - pathogenic g.40903866_40903875dup g.40397959_40397968dup c.385_394dupATCCAGAGTC - PRX_000019 - PubMed: Otagiri 2006 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Otagiri 2006 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.445G>A r.(?) p.(Ala149Thr) Parent #1 - VUS g.40903814C>T g.40397907C>T - - PRX_000105 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142436391 Germline - 1/2780 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.471G>A r.(?) p.(Glu157=) Unknown - benign g.40903788C>T g.40397881C>T PRX(NM_181882.2):c.471G>A (p.E157=) - PRX_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499C>T r.(?) p.(Arg167Cys) Unknown - VUS g.40903760G>A - PRX(NM_181882.2):c.499C>T (p.R167C) - PRX_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540G>A r.(?) p.(Pro180=) Unknown - likely benign g.40903719C>T - PRX(NM_181882.2):c.540G>A (p.P180=) - PRX_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.586C>T r.(?) p.(Arg196Ter) Unknown - pathogenic g.40903673G>A g.40397766G>A PRX(NM_181882.2):c.586C>T (p.R196*) - PRX_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.586C>T r.(?) p.(Arg196*) Unknown - pathogenic g.40903673G>A g.40397766G>A - - PRX_000020 - PubMed: Guilbot 2001 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Guilbot 2001 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.589G>T r.(?) p.(Glu197*) Unknown - VUS g.40903670C>A - - - PRX_000112 - - - - Germline - - - 0 - DNA SEQ Blood - CMT2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
?/. - c.613G>C r.(?) p.(Ala205Pro) Unknown - VUS g.40903646C>G g.40397739C>G PRX(NM_181882.2):c.613G>C (p.A205P) - PRX_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719G>A r.(?) p.(Arg240Gln) Unknown - VUS g.40903540C>T g.40397633C>T PRX(NM_181882.2):c.719G>A (p.R240Q) - PRX_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.730del r.(?) p.(Ala244Argfs*69) Unknown - pathogenic g.40903532del g.40397625del c.730delG - PRX_000021 - PubMed: Baets 2011 - - Germline - - - 0 - DNA SEQ - - HMSN - PubMed: Baets 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.731C>T r.(?) p.(Ala244Val) Parent #1 - VUS g.40903528G>A g.40397621G>A - - PRX_000003 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.731C>T r.(?) p.(Ala244Val) Unknown - benign g.40903528G>A g.40397621G>A PRX(NM_181882.2):c.731C>T (p.A244V) - PRX_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.731C>T r.(?) p.(Ala244Val) Unknown - benign g.40903528G>A - PRX(NM_181882.2):c.731C>T (p.A244V) - PRX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.773_774dup r.(?) p.(Ser259Profs*55) Unknown - pathogenic g.40903488_40903489dup g.40397581_40397582dup c.773_774dupCC - PRX_000022 - PubMed: Marchesi 2010 - - Germline - - - 0 - DNA SEQ - - neuropathy - PubMed: Marchesi 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.794G>T r.(?) p.(Gly265Val) Unknown - VUS g.40903465C>A g.40397558C>A PRX(NM_181882.2):c.794G>T (p.G265V) - PRX_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.811C>T r.(?) p.(Pro271Ser) Unknown - VUS g.40903448G>A g.40397541G>A PRX(NM_181882.2):c.811C>T (p.P271S) - PRX_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823C>A r.(?) p.(Leu275Ile) Unknown - VUS g.40903436G>T g.40397529G>T PRX(NM_181882.2):c.823C>A (p.L275I) - PRX_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.823C>A r.(?) p.(Leu275Ile) Unknown - VUS g.40903436G>T g.40397529G>T PRX(NM_181882.2):c.823C>A (p.L275I) - PRX_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.862G>A r.(?) p.(Val288Met) Unknown - VUS g.40903397C>T g.40397490C>T PRX(NM_020956.2):c.*1067G>A (p.(=)) - PRX_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.892C>T r.(?) p.(Pro298Ser) Parent #1 - VUS g.40903367G>A g.40397460G>A - - PRX_000104 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185112635 Germline - 2/2779 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. - c.913dup r.(?) p.(Thr305Asnfs*48) Parent #1 ACMG likely pathogenic g.40903346dup g.40397439dup 913dupA - PRX_000078 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat84 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+?/. - c.1012del r.(?) p.(Ala338Profs*18) Both (homozygous) ACMG likely pathogenic g.40903248del g.40397341del 1012delG - PRX_000076 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat82 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
-/. - c.1051C>T r.(?) p.(Pro351Ser) Unknown - benign g.40903208G>A g.40397301G>A PRX(NM_181882.2):c.1051C>T (p.P351S) - PRX_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1051C>T r.(?) p.(Pro351Ser) Parent #1 - likely benign g.40903208G>A g.40397301G>A - - PRX_000091 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73933276 Germline - 2/2775 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. - c.1090C>T r.(?) p.(Arg364Ter) Unknown - pathogenic g.40903169G>A g.40397262G>A - - PRX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.1090C>T r.(?) p.(Arg364*) Unknown - pathogenic g.40903169G>A g.40397262G>A - - PRX_000004 - PubMed: Nouioua 2011 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Nouioua 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.1102C>T r.(?) p.(Arg368Ter) Unknown - pathogenic g.40903157G>A g.40397250G>A PRX(NM_181882.2):c.1102C>T (p.R368*) - PRX_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.1102C>T r.(?) p.(Arg368*) Unknown - pathogenic g.40903157G>A g.40397250G>A - - PRX_000005 - PubMed: Boerkoel 2001 - - Germline - - - 0 - DNA SEQ - - DejerineSottas - PubMed: Boerkoel 2001 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1113A>G r.(?) p.(Glu371=) Unknown - likely benign g.40903146T>C g.40397239T>C PRX(NM_181882.2):c.1113A>G (p.E371=) - PRX_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1194_1197del r.(?) p.(Leu400Trpfs*11) Unknown - pathogenic g.40903062_40903065del g.40397155_40397158del c.1194_1197delTTCC - PRX_000006 - PubMed: Kabzinska 2006 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Kabzinska 2006 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1216G>A r.(?) p.(Ala406Thr) Unknown - benign g.40903043C>T g.40397136C>T PRX(NM_181882.2):c.1216G>A (p.A406T) - PRX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1216G>A r.(?) p.(Ala406Thr) Unknown - benign g.40903043C>T - PRX(NM_181882.2):c.1216G>A (p.A406T) - PRX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251G>T r.(?) p.(Leu417=) Unknown - likely benign g.40903008C>A g.40397101C>A PRX(NM_181882.2):c.1251G>T (p.L417=) - PRX_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1281C>T r.(?) p.(Ile427=) Unknown - benign g.40902978G>A g.40397071G>A PRX(NM_181882.2):c.1281C>T (p.I427=) - PRX_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1390C>T r.(?) p.(Arg464*) Both (homozygous) ACMG likely pathogenic g.40902869G>A g.40396962G>A - - PRX_000077 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat83 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
-?/. - c.1446A>C r.(?) p.(Pro482=) Unknown - likely benign g.40902813T>G g.40396906T>G - - PRX_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1483G>C r.(?) p.(Glu495Gln) Unknown - benign g.40902776C>G g.40396869C>G PRX(NM_181882.2):c.1483G>C (p.E495Q) - PRX_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1491C>G r.(?) p.(Pro497=) Unknown - benign g.40902768G>C g.40396861G>C PRX(NM_181882.2):c.1491C>G (p.P497=) - PRX_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1491del r.(?) p.(Val499Cysfs*4) Unknown - pathogenic g.40902770del g.40396863del 1491delC - PRX_000031 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
-/. - c.1500A>G r.(?) p.(Ser500=) Unknown - benign g.40902759T>C g.40396852T>C PRX(NM_181882.2):c.1500A>G (p.S500=) - PRX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1500A>G r.(?) p.(Ser500=) Unknown - likely benign g.40902759T>C - PRX(NM_181882.2):c.1500A>G (p.S500=) - PRX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1538C>T r.(?) p.(Pro513Leu) Unknown - VUS g.40902721G>A - PRX(NM_181882.2):c.1538C>T (p.P513L) - PRX_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1574T>C r.(?) p.(Val525Ala) Unknown - likely benign g.40902685A>G g.40396778A>G PRX(NM_181882.2):c.1574T>C (p.V525A) - PRX_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1574T>C r.(?) p.(Val525Ala) Unknown - likely benign g.40902685A>G g.40396778A>G PRX(NM_181882.2):c.1574T>C (p.V525A) - PRX_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1639C>T r.(?) p.(Gln547Ter) Unknown - likely pathogenic g.40902620G>A g.40396713G>A PRX(NM_181882.2):c.1639C>T (p.Q547*) - PRX_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.1639C>T r.(?) p.(Gln547*) Unknown - pathogenic g.40902620G>A g.40396713G>A - - PRX_000007 - PubMed: Marchesi 2010 - - Germline - - - 0 - DNA SEQ - - neuropathy - PubMed: Marchesi 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.1759C>T r.(?) p.(Leu587Phe) Unknown - VUS g.40902500G>A - PRX(NM_181882.2):c.1759C>T (p.L587F) - PRX_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1836C>T r.(?) p.(Ala612=) Unknown - likely benign g.40902423G>A g.40396516G>A PRX(NM_181882.2):c.1836C>T (p.A612=) - PRX_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2017A>G r.(?) p.(Met673Val) Unknown - benign g.40902242T>C g.40396335T>C PRX(NM_181882.2):c.2017A>G (p.M673V) - PRX_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.2044G>T r.(?) p.(Glu682*) Unknown - pathogenic g.40902215C>A g.40396308C>A - - PRX_000008 - PubMed: Marchesi 2010 - - Germline - - - 0 - DNA SEQ - - neuropathy - PubMed: Marchesi 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/. 7 c.2098del r.(?) p.(Ala700Profs*18) Unknown - pathogenic g.40902162del g.40396255del c.2098delG - PRX_000009 - PubMed: Auer-Grumbach 2008 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Auer-Grumbach 2008 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.2106C>T r.(?) p.(Pro702=) Unknown - likely benign g.40902153G>A - PRX(NM_181882.2):c.2106C>T (p.P702=) - PRX_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2145T>A r.(?) p.(Cys715Ter) Unknown - pathogenic g.40902114A>T g.40396207A>T PRX(NM_181882.2):c.2145T>A (p.C715*) - PRX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.2145T>A r.(?) p.(Cys715*) Unknown - pathogenic g.40902114A>T g.40396207A>T - - PRX_000010 - PubMed: Takashima 2002 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Takashima 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.2197C>T r.(?) p.(Pro733Ser) Unknown - VUS g.40902062G>A - PRX(NM_181882.2):c.2197C>T (p.P733S) - PRX_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2254G>A r.(?) p.(Glu752Lys) Unknown - likely benign g.40902005C>T g.40396098C>T PRX(NM_181882.2):c.2254G>A (p.E752K) - PRX_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2254G>A r.(?) p.(Glu752Lys) Parent #1 - VUS g.40902005C>T g.40396098C>T - - PRX_000026 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147587689 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.2282C>T r.(?) p.(Pro761Leu) Unknown - VUS g.40901977G>A g.40396070G>A PRX(NM_181882.2):c.2282C>T (p.P761L) - PRX_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.2289del r.(?) p.(Asp765Thrfs*10) Unknown - pathogenic g.40901971del g.40396064del c.2289delT - PRX_000011 - PubMed: Boerkoel 2001 - - Germline - - - 0 - DNA SEQ - - DejerineSottas - PubMed: Boerkoel 2001 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.2326C>G r.(?) p.(Leu776Val) Unknown - VUS g.40901933G>C - PRX(NM_181882.2):c.2326C>G (p.L776V) - PRX_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2420C>G r.(?) p.(Pro807Arg) Unknown - VUS g.40901839G>C g.40395932G>C PRX(NM_181882.2):c.2420C>G (p.P807R) - PRX_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.2421del r.(?) p.(Lys808Serfs*2) Unknown - pathogenic g.40901840del g.40395933del c.2421delC - PRX_000012 - PubMed: Marchesi 2010 - - Germline - - - 0 - DNA SEQ - - neuropathy - PubMed: Marchesi 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.2464G>A r.(?) p.(Glu822Lys) Unknown - VUS g.40901795C>T g.40395888C>T PRX(NM_181882.2):c.2464G>A (p.E822K) - PRX_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2469G>A r.(?) p.(Ala823=) Unknown - benign g.40901790C>T g.40395883C>T PRX(NM_181882.2):c.2469G>A (p.A823=) - PRX_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2548C>G r.(?) p.(Pro850Ala) Unknown - likely benign g.40901711G>C g.40395804G>C PRX(NM_181882.2):c.2548C>G (p.P850A) - PRX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2548C>G r.(?) p.(Pro850Ala) Unknown - VUS g.40901711G>C g.40395804G>C PRX(NM_181882.2):c.2548C>G (p.P850A) - PRX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2571G>A r.(?) p.(Val857=) Unknown - likely benign g.40901688C>T g.40395781C>T PRX(NM_181882.2):c.2571G>A (p.V857=) - PRX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2602del r.(?) p.(Gln868Argfs*53) Parent #2 ACMG likely pathogenic g.40901657del g.40395750del 2602delC - PRX_000079 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat84 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
?/. - c.2620G>A r.(?) p.(Ala874Thr) Unknown - VUS g.40901639C>T - PRX(NM_181882.2):c.2620G>A (p.A874T) - PRX_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2645T>C r.(?) p.(Val882Ala) Unknown - benign g.40901614A>G g.40395707A>G PRX(NM_181882.2):c.2645T>C (p.V882A) - PRX_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2645T>C r.(?) p.(Val882Ala) Unknown - benign g.40901614A>G g.40395707A>G PRX(NM_181882.2):c.2645T>C (p.V882A) - PRX_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2645T>C r.(?) p.(Val882Ala) Unknown - benign g.40901614A>G g.40395707A>G PRX(NM_181882.2):c.2645T>C (p.V882A) - PRX_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2645T>G r.(?) p.(Val882Gly) Unknown - benign g.40901614A>C g.40395707A>C PRX(NM_181882.2):c.2645T>G (p.V882G) - PRX_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2655T>C r.(?) p.(Pro885=) Unknown - benign g.40901604A>G g.40395697A>G PRX(NM_181882.2):c.2655T>C (p.P885=) - PRX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2655T>C r.(?) p.(Pro885=) Unknown - benign g.40901604A>G g.40395697A>G PRX(NM_181882.2):c.2655T>C (p.P885=) - PRX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2655T>C r.(?) p.(Pro885=) Unknown - benign g.40901604A>G g.40395697A>G PRX(NM_181882.2):c.2655T>C (p.P885=) - PRX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2727C>T r.(?) p.(Pro909=) Unknown - benign g.40901532G>A g.40395625G>A PRX(NM_181882.2):c.2727C>T (p.P909=) - PRX_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2731G>A r.(?) p.(Val911Met) Unknown - likely benign g.40901528C>T g.40395621C>T PRX(NM_181882.2):c.2731G>A (p.V911M) - PRX_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2763A>G r.(?) p.(Ile921Met) Unknown - benign g.40901496T>C g.40395589T>C PRX(NM_181882.2):c.2763A>G (p.I921M) - PRX_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »