Full data view for gene MEIS2

Information The variants shown are described using the NM_170677.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-1074_*1475{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_36606036)_(37980027_?)del - - - MEIS2_000023 1.37 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - Agilent 4x180k ? PatC PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.-1074_*1475{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_34616375)_(37401551_?)del - - - MEIS2_000023 2.78 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - Nimblegen CGX-12 ? PatI PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-1074_*1475{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_34363958)_(37792285_?)del - - - MEIS2_000023 3.43 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - OGT 8 x 60k ? PatJ PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-1074_*1475{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_36794841)_(41016404_?)del - - - MEIS2_000023 4.2 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - Agilent 4x180k ? PatK PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.-1074_*1475{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_33707609)_(39190567_?)del - - - MEIS2_000023 5.4 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - Agilent 4x180k ? PatL PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-1074_*1475{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_32260104)_(38338675_?)del - - - MEIS2_000023 6.1 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - Agilent 60k ? PatM PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-1074_*1475{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_34962033)_(41938462_?)del - - - MEIS2_000023 6.97 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - Germline/De novo (untested) - - - - - DNA arrayCGH - Nimblegen CGX-12 ? PatN PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.-137dup r.(?) p.(=) Unknown - likely benign g.37391809dup - MEIS2(NM_001220482.2):c.-133-4dup - MEIS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(?_36989551)_(37184183_?)del - - - MEIS2_000024 194 kb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - Agilent 60k ? PatA PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(?_37196610)_(38244056_?)del - - - MEIS2_000024 1.05 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - Signature Chip v2.0 ? PatB PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(?_37310981)_(38781772_?)del - - - MEIS2_000024 1.47 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - Germline/De novo (untested) - - - - - DNA arraySNP - Affymetrix SNP 6.0 ? PatD PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(?_37358935)_(39695030_?)del - - - MEIS2_000024 2.34 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arraySNP - Affymetrix CytoScan ? PatE PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(?_37269953)_(40018834_?)del - - - MEIS2_000024 2.7 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - Germline/De novo (untested) - - - - - DNA arrayCGH - Agilent 60k ? PatF PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(?_37231466)_(40103247_?)del - - - MEIS2_000024 2.87 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - Germline/De novo (untested) - - - - - DNA arrayCGH - OGT 8x60K v2.0 ? PatG PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(?_34308789)_(37231638_?)del - - - MEIS2_000024 2.92 Mb deletion PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA arrayCGH - Agilent 60k ? PatH PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.27_28del r.(?) p.(His10Leufs*84) Paternal (confirmed) - pathogenic (dominant) g.37390387_37390388del g.37098186_37098187del - - MEIS2_000020 - PubMed: Santoro 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CPCMR - PubMed: Santoro 2021 - M no Italy - - - - - 2 Giulio Piluso
-?/. - c.61G>A r.(?) p.(Ala21Thr) Unknown - likely benign g.37390352C>T - MEIS2(NM_001220482.1):c.61G>A (p.(Ala21Thr)) - MEIS2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.103C>T r.(?) p.(Pro35Ser) Unknown - VUS g.37390310G>A - MEIS2(NM_170674.5):c.103C>T (p.P35S) - MEIS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.205G>T r.(?) p.(Val69Phe) Unknown - VUS g.37390208C>A - MEIS2(NM_170675.4):c.205G>T (p.(Val69Phe)) - MEIS2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.383del r.() p.(Lys128Serfs*19) Unknown - pathogenic g.37388495del g.37096294del 383delA - MEIS2_000003 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - RNA SEQ-NG peripheral blood-derived DNA WES CPCMR Pat7 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 18y03m - - - 1 Jeroen Breckpot
+?/. - c.393del r.(?) p.(Ala132Profs*15) Unknown - likely pathogenic g.37387810del - MEIS2(NM_170677.5):c.393delC (p.A132Pfs*15) - MEIS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.412dup r.(?) p.(Ser138Phefs*33) Unknown - likely pathogenic g.37387796dup - MEIS2(NM_170677.5):c.412dupT (p.S138Ffs*33) - MEIS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507T>C r.(?) p.(=) Unknown - likely benign g.37385914A>G - MEIS2(NM_170675.5):c.507T>C (p.D169=) - MEIS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.520C>T r.(?) p.(Arg174*) Unknown - likely pathogenic g.37385901G>A g.37093700G>A - - MEIS2_000011 - - - - De novo - - - - - DNA SEQ-NG blood - - - - - M no - - - - - - 1 Alessandra Renieri
+/. - c.611C>G r.(?) p.(Ser204*) Unknown - pathogenic (dominant) g.37385810G>C - NM_170677.4:c.611C>G - MEIS2_000022 - PubMed: Fujita 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Fujita 2016 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - 1 Johan den Dunnen
+/. - c.639+1G>A r.spl p.0? Unknown - pathogenic g.37385781C>T g.37093580C>T - - MEIS2_000004 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA SEQ-NG peripheral blood-derived DNA WES CPCMR Pat2 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Ireland - 10y11m - - - 1 Jeroen Breckpot
+/. - c.640-2A>G r.spl p.0? Unknown - pathogenic g.37376088T>C g.37083887T>C - - MEIS2_000005 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - RNA SEQ-NG peripheral blood-derived DNA WES CPCMR Pat3 PubMed: Verheije 2019, Journal: Verheije 2019 - M no - - 04y - - - 1 Jeroen Breckpot
+/. - c.829C>T r.(?) p.(Gln277*) Unknown - pathogenic g.37329086G>A g.37036885G>A MEIS2(NM_170677.5):c.829C>T (p.Q277*) - MEIS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.829C>T r.(?) p.(Gln277*) Unknown - pathogenic g.37329086G>A g.37036885G>A - - MEIS2_000001 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA SEQ-NG - WES CPCMR Pat4 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 20y - - - 1 Jeroen Breckpot
+/. - c.868dup r.(?) p.(Ile290Asnfs*40) Unknown - pathogenic g.37329047dup g.37036846dup 868dupA - MEIS2_000006 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - RNA SEQ-NG peripheral blood-derived DNA WES CPCMR Pat5 PubMed: Verheije 2019, Journal: Verheije 2019 - M no - - 13y - - - 1 Jeroen Breckpot
+/. - c.934_937del r.(?) p.(Leu312Argfs*11) Unknown - pathogenic g.37242567_37242570del g.36950366_36950369del - - MEIS2_000007 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - RNA SEQ peripheral blood-derived DNA - CPCMR Pat8 PubMed: Verheije 2019, Journal: Verheije 2019 - F no Belgium - 11y - - - 1 Jeroen Breckpot
+/. - c.955A>G r.(?) p.(Thr319Ala) Unknown - pathogenic (dominant) g.37242547T>C g.36950346T>C - - MEIS2_000017 - PubMed: Srivastava 2018 - - De novo - - - - - DNA RT-PCR, SEQ, SEQ-NG - WES ID Pat5 PubMed: Srivastava 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.973A>G r.(?) p.(Asn325Asp) Unknown - VUS g.37242529T>C - MEIS2(NM_170675.4):c.973A>G (p.(Asn325Asp)) - MEIS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.978-2A>G r.spl p.0? Unknown - pathogenic g.37188889T>C g.36896688T>C - - MEIS2_000008 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - RNA SEQ-NG peripheral blood-derived DNA WES CPCMR Pat6 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 05y08m - - - 1 Jeroen Breckpot
+/. - c.978G>A r.(?) p.(Trp326*) Unknown - pathogenic g.37188887C>T g.36896686C>T - - MEIS2_000009 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - DNA SEQ-NG peripheral blood-derived DNA - CPCMR Pat1 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Morocco - 05y - - - 1 Jeroen Breckpot
+?/. - c.998G>A r.(?) p.(Arg333Lys) Unknown - likely pathogenic g.37188867C>T g.36896666C>T - - MEIS2_000010 - PubMed: Verheije 2019, Journal: Verheije 2019 - - De novo - - - - - RNA SEQ-NG peripheral blood-derived DNA WES CPCMR Pat9 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Germany - 01y01m - - - 1 Jeroen Breckpot
+?/. - c.998_1000del r.(?) p.(Arg333del) Unknown - pathogenic (dominant) g.37188865_37188867del - NM_170674.3:c.998_1000del - MEIS2_000021 - PubMed: Louw 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Louw 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.999_1002delinsCCAT r.(?) p.(Arg333_Ile334delinsSerHis) Unknown ACMG likely pathogenic (dominant) g.37188863_37188866delinsATGG g.36896662_36896665delinsATGG - - MEIS2_000027 ACMG: PS2, PM5, PM2_SUP, PP2; confirmed de novo, p.Arg333del at same position described as recurrent de novo path variant - - - De novo - - - - - DNA SEQ-NG-I - - CPCMR 203615 - - F no Germany - - - - - 1 Andreas Laner
+?/. - c.1002A>G r.(?) p.(Ile334Met) Unknown - likely pathogenic g.37188863T>C g.36896662T>C - - MEIS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1021C>T r.(?) p.(Gln341*) Unknown - pathogenic (dominant) g.37188844G>A - - - MEIS2_000029 - - - - De novo - - - - - DNA SEQ-NG-I - - CPCMR - - - - - - - - - - - 1 Marketa Wayhelova
-?/. - c.1028A>G r.(?) p.(Asn343Ser) Unknown - likely benign g.37188837T>C - MEIS2(NM_170675.4):c.1028A>G (p.(Asn343Ser)) - MEIS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1030C>T r.(?) p.(Arg344*) Unknown - likely pathogenic g.37188835G>A - MEIS2(NM_170674.4):c.1030C>T (p.(Arg344Ter)) - MEIS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123C>A r.(?) p.(Gln375Lys) Unknown - VUS g.37187376G>T g.36895175G>T MEIS2(NM_170677.5):c.1123C>A (p.Q375K) - MEIS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1129A>C r.(?) p.(Met377Leu) Unknown - likely benign g.37187370T>G - MEIS2(NM_001220482.1):c.1108A>C (p.(Met370Leu)), MEIS2(NM_170674.5):c.1108A>C (p.M370L) - MEIS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1129A>C r.(?) p.(Met377Leu) Unknown - likely benign g.37187370T>G - MEIS2(NM_001220482.1):c.1108A>C (p.(Met370Leu)), MEIS2(NM_170674.5):c.1108A>C (p.M370L) - MEIS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*224del r.(?) p.(=) Unknown - VUS g.37184478del - MEIS2(NM_170675.5):c.1334del (p.(Pro445Leufs*6)) - MEIS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*283C>G r.(=) p.(=) Unknown - VUS g.37184415G>C - MEIS2(NM_170675.5):c.1393C>G (p.(Pro465Ala)) - MEIS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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