All variants in the MPL gene

Information The variants shown are described using the NM_005373.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.23T>G r.(?) p.(Met8Arg) - likely pathogenic g.43803542T>G g.43337871T>G MPL(NM_005373.2):c.23T>G (p.(Met8Arg)) - MPL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.79+2T>A r.spl p.? - VUS g.43803600T>A g.43337929T>A - - MPL_000010 - PubMed: Lhota 2016 - rs146249964 Germline - - - 0 - Zdenek Kleibl
-?/. - c.117G>T r.(?) p.(Lys39Asn) - likely benign g.43803807G>T - MPL(NM_005373.2):c.117G>T (p.(Lys39Asn)) - MPL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.235_236del r.(?) p.(Leu79Glufs*84) - VUS g.43804235_43804236del g.43338564_43338565del - - MPL_000002 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. - c.304C>T r.(?) p.(Arg102Cys) - likely pathogenic (recessive) g.43804304C>T g.43338633C>T - - MPL_000025 - PubMed: Tsangaris 2011 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.304C>T r.(?) p.(Leu102=) - likely pathogenic (recessive) g.43804304C>T g.43338633C>T - - MPL_000025 - PubMed: Tsangaris 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.305G>C r.(?) p.(Arg102Pro) - pathogenic g.43804305G>C g.43338634G>C MPL(NM_005373.2):c.305G>C (p.R102P) - MPL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.305G>C r.(?) p.(Arg102Pro) - pathogenic g.43804305G>C g.43338634G>C MPL(NM_005373.2):c.305G>C (p.R102P) - MPL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.305G>C r.(?) p.(Arg102Pro) - pathogenic g.43804305G>C g.43338634G>C MPL(NM_005373.2):c.305G>C (p.R102P) - MPL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
-?/. - c.340G>A r.(?) p.(Val114Met) - likely benign g.43804340G>A g.43338669G>A MPL(NM_005373.2):c.340G>A (p.V114M) - MPL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.340G>A r.(?) p.(Val114Met) - likely benign g.43804340G>A g.43338669G>A - - MPL_000001 151 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12731981 Germline - 151/2794 individuals - 0 - Mohammed Faruq
-?/. - c.340G>A r.(?) p.(Val114Met) - likely benign g.43804340G>A g.43338669G>A - - MPL_000001 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12731981 Germline - 3/2794 individuals - 0 - Mohammed Faruq
?/. - c.340G>A r.(?) p.(Val114Met) - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. - c.378del r.(?) p.(Phe126LeufsTer5) - pathogenic g.43804378del - MPL(NM_005373.2):c.378del (p.(Phe126Leufs*5)) - MPL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.407C>A r.(?) p.(Pro136His) - pathogenic g.43804957C>A g.43339286C>A - - MPL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.543T>C r.(?) p.(Gly181=) - benign g.43805093T>C g.43339422T>C MPL(NM_005373.2):c.543T>C (p.G181=) - MPL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.549G>T r.(?) p.(Thr183=) - likely benign g.43805099G>T g.43339428G>T MPL(NM_005373.2):c.549G>T (p.T183=) - MPL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.655C>G r.(?) p.(Gln219Glu) - likely benign g.43805205C>G g.43339534C>G MPL(NM_005373.2):c.655C>G (p.Q219E) - MPL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.690A>G r.(?) p.(Glu230=) - benign g.43805240A>G g.43339569A>G MPL(NM_005373.2):c.690A>G (p.(=)) - MPL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.690A>G r.(=) p.(=) - benign g.43805240A>G g.43339569A>G - - MPL_000018 224 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16830693 Germline - 224/2794 individuals - 0 - Mohammed Faruq
-/. - c.690A>G r.(=) p.(=) - benign g.43805240A>G g.43339569A>G - - MPL_000018 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16830693 Germline - 4/2794 individuals - 0 - Mohammed Faruq
?/. - c.754T>C r.(?) p.(Tyr252His) - VUS g.43805698T>C g.43340027T>C MPL(NM_005373.2):c.754T>C (p.(Tyr252His)) - MPL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.882_888del r.(?) p.(Asp295ArgfsTer72) - pathogenic g.43806086_43806092del g.43340415_43340421del - - MPL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1000T>C r.(?) p.(Cys334Arg) - likely pathogenic g.43812135T>C - MPL(NM_005373.2):c.1000T>C (p.(Cys334Arg)) - MPL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1106C>T r.(?) p.(Thr369Ile) - VUS g.43812241C>T g.43346570C>T MPL(NM_005373.2):c.1106C>T (p.T369I) - MPL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1336G>A r.(?) p.(Gly446Arg) - likely benign g.43814541G>A g.43348870G>A MPL(NM_005373.2):c.1336G>A (p.G446R) - MPL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1544G>T r.(?) p.(Trp515Leu) - pathogenic g.43815009G>T g.43349338G>T - - MPL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1565+5C>T r.spl? p.? - likely benign g.43815035C>T g.43349364C>T MPL(NM_005373.2):c.1565+5C>T - MPL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1570C>T r.(?) p.(Leu524=) - likely benign g.43817891C>T - MPL(NM_005373.2):c.1570C>T (p.L524=) - MPL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1653+3G>A r.spl? p.? - likely benign g.43817977G>A g.43352306G>A MPL(NM_005373.2):c.1653+3G>A (p.?) - MPL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1654-10T>A r.(=) p.(=) - likely benign g.43818179T>A g.43352508T>A MPL(NM_005373.2):c.1654-10T>A - MPL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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