Full data view for gene MAPK8IP3

Information The variants shown are described using the NM_001318852.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.44A>G r.(?) p.(Tyr15Cys) Unknown ACMG VUS g.1756384A>G - - - MAPK8IP3_000019 ACMG: PM2_SUP, PP2 - - - Germline ? - - - - DNA SEQ-NG-I - - NEDBA 187184 - - M no Germany - - - - - 1 Andreas Laner
+/. - c.65del r.(?) p.(Gly22AlafsTer3) Unknown - pathogenic (dominant) g.1756405del g.1714721del 65delG - MAPK8IP3_000005 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat1 PubMed: Platzer 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.79G>T r.(?) p.(Glu27Ter) Unknown - pathogenic (dominant) g.1756419G>T g.1706418G>T - - MAPK8IP3_000006 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat2 PubMed: Platzer 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.111C>G r.(?) p.(Tyr37Ter) Unknown - pathogenic (dominant) g.1756451C>G g.1714767C>G - - MAPK8IP3_000007 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat3 PubMed: Platzer 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.602+7_602+56del r.(=) p.(=) Unknown - likely benign g.1779586_1779635del - MAPK8IP3(NM_001040439.2):c.593_602+40del - MAPK8IP3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.602+21_602+45del r.(=) p.(=) Unknown - likely benign g.1779600_1779624del - MAPK8IP3(NM_001040439.2):c.599_602+21delGGAGGTACGCGGGGCGCGGCGGGGT - MAPK8IP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.653C>G r.(?) p.(Thr218Arg) Unknown - likely benign g.1793383C>G - MAPK8IP3(NM_001040439.1):c.650C>G (p.(Thr217Arg)) - MAPK8IP3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659G>A r.(?) p.(Arg220His) Unknown - VUS g.1793389G>A - MAPK8IP3(NM_001040439.1):c.656G>A (p.(Arg219His)) - MAPK8IP3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.848C>T r.(?) p.(Ser283Leu) Unknown - VUS g.1797130C>T - MAPK8IP3(NM_001040439.2):c.845C>T (p.S282L) - MAPK8IP3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1185C>T r.(?) p.(Ile395=) Unknown - likely benign g.1798690C>T - MAPK8IP3(NM_001040439.2):c.1182C>T (p.I394=) - MAPK8IP3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1201G>A r.(?) p.(Gly401Arg) Unknown - pathogenic (dominant) g.1798706G>A g.1748705G>A - - MAPK8IP3_000008 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat4 PubMed: Platzer 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1216+682G>A r.(=) p.(=) Unknown - likely benign g.1799403G>A - MAPK8IP3(NM_001318852.2):c.1216+682G>A - MAPK8IP3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1217-5G>A r.spl? p.? Unknown - likely benign g.1808144G>A - MAPK8IP3(NM_001318852.2):c.1217-5G>A - MAPK8IP3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1334T>C r.(?) p.(Leu445Pro) Unknown - pathogenic (dominant) g.1810410T>C g.1760409T>C - - MAPK8IP3_000010 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat5 PubMed: Platzer 2019 - M - - - - - - - 3 Johan den Dunnen
+/. - c.1334T>C r.(?) p.(Leu445Pro) Unknown - pathogenic (dominant) g.1810410T>C g.1760409T>C - - MAPK8IP3_000010 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat6 PubMed: Platzer 2019 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.1427G>A r.(?) p.(Arg476His) Unknown - likely benign g.1810503G>A - MAPK8IP3(NM_001040439.1):c.1406G>A (p.(Arg469His)) - MAPK8IP3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458-3_1458-2del r.spl? p.? Unknown - likely benign g.1811222_1811223del - MAPK8IP3(NM_001318852.2):c.1458-3_1458-2del - MAPK8IP3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1567C>T r.(?) p.(Arg523Cys) Unknown - VUS g.1812379C>T - MAPK8IP3(NM_001318852.1):c.1567C>T (p.R523C) - MAPK8IP3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1577G>A r.(?) p.(Arg526Gln) Unknown - pathogenic (dominant) g.1812389G>A g.1762388G>A - - MAPK8IP3_000009 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat7 PubMed: Platzer 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1735C>T r.(?) p.(Arg579Cys) Unknown - pathogenic (dominant) g.1812844C>T g.1762843C>T - - MAPK8IP3_000011 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat8 PubMed: Platzer 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1735C>T r.(?) p.(Arg579Cys) Unknown - pathogenic (dominant) g.1812844C>T g.1762843C>T - - MAPK8IP3_000011 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat9 PubMed: Platzer 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1735C>T r.(?) p.(Arg579Cys) Unknown - pathogenic (dominant) g.1812844C>T g.1762843C>T - - MAPK8IP3_000011 - PubMed: Iwasawa 2019 - - De novo - - - - - DNA SEQ-NG - WES NDD Fam1Pat1 PubMed: Iwasawa 2019 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Japan - - - - - 2 Johan den Dunnen
+/. - c.1735C>T r.(?) p.(Arg579Cys) Unknown - pathogenic (dominant) g.1812844C>T g.1762843C>T - - MAPK8IP3_000011 - PubMed: Iwasawa 2019 - - De novo - - - - - DNA SEQ-NG - WES NDD Fam1Pat2 PubMed: Iwasawa 2019 sister F - Japan - - - - - 1 Johan den Dunnen
+/. - c.1735C>T r.(?) p.(Arg579Cys) Unknown - pathogenic (dominant) g.1812844C>T g.1762843C>T - - MAPK8IP3_000011 - PubMed: Iwasawa 2019 - - De novo - - - - - DNA SEQ-NG - WES NDD Fam2Pat3 PubMed: Iwasawa 2019 - M - Japan - - - - - 1 Johan den Dunnen
-?/. - c.1758C>T r.(?) p.(Ser586=) Unknown - likely benign g.1812867C>T - MAPK8IP3(NM_001040439.2):c.1737C>T (p.S579=) - MAPK8IP3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1910C>T r.(?) p.(Ser637Phe) Unknown - VUS g.1813669C>T - MAPK8IP3(NM_001040439.1):c.1889C>T (p.(Ser630Phe)) - MAPK8IP3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1936G>A r.(?) p.(Glu646Lys) Unknown - VUS g.1813695G>A - MAPK8IP3(NM_001040439.1):c.1915G>A (p.(Glu639Lys)) - MAPK8IP3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2121+1dup r.spl p.(Leu708Alafs*16) Unknown - likely pathogenic g.1814212dup g.1764211dup - - MAPK8IP3_000017 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.2278_2280del r.(?) p.(Lys760del) Unknown - likely benign g.1814458_1814460del - MAPK8IP3(NM_001040439.1):c.2257_2259delAAG (p.(Lys753del)) - MAPK8IP3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2373C>T r.(?) p.(Ala791=) Unknown - likely benign g.1815106C>T - MAPK8IP3(NM_001040439.2):c.2352C>T (p.A784=) - MAPK8IP3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2416G>A r.(?) p.(Ala806Thr) Unknown - VUS g.1815149G>A - MAPK8IP3(NM_001040439.1):c.2395G>A (p.(Ala799Thr)) - MAPK8IP3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2446G>C r.(?) p.(Ala816Pro) Unknown - likely benign g.1815179G>C - MAPK8IP3(NM_001318852.2):c.2446G>C (p.(Ala816Pro)) - MAPK8IP3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2473G>A r.(?) p.(Gly825Arg) Unknown - VUS g.1815987G>A - MAPK8IP3(NM_001040439.1):c.2452G>A (p.(Gly818Arg)) - NME3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2842A>G r.(?) p.(Ser948Gly) Unknown - likely benign g.1816552A>G - MAPK8IP3(NM_001040439.1):c.2821A>G (p.(Ser941Gly)) - NME3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2865_2870del r.(?) p.(Glu956_Pro957del) Unknown - VUS g.1816575_1816580del - MAPK8IP3(NM_001040439.2):c.2844_2849delAGAGCC (p.E949_P950del) - NME3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2868G>C r.(?) p.(Glu956Asp) Unknown - likely benign g.1816578G>C - MAPK8IP3(NM_001040439.1):c.2847G>C (p.(Glu949Asp)) - NME3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2985C>G r.(?) p.(His995Gln) Unknown - pathogenic (dominant) g.1816769C>G g.1775085C>G - - MAPK8IP3_000012 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat10 PubMed: Platzer 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.3406C>T r.(?) p.(Leu1136=) Unknown - likely benign g.1817733C>T - MAPK8IP3(NM_001318852.2):c.3406C>T (p.(Leu1136=)) - MRPS34_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3439C>T r.(?) p.(Arg1147Cys) Unknown - pathogenic (dominant) g.1817835C>T g.1776151C>T - - MAPK8IP3_000013 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat11 PubMed: Platzer 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3439C>T r.(?) p.(Arg1147Cys) Unknown - pathogenic (dominant) g.1817835C>T g.1776151C>T - - MAPK8IP3_000013 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat12 PubMed: Platzer 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3439C>T r.(?) p.(Arg1147Cys) Unknown - pathogenic (dominant) g.1817835C>T g.1776151C>T - - MAPK8IP3_000013 - PubMed: Platzer 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat13 PubMed: Platzer 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3439C>T r.(?) p.(Arg1147Cys) Unknown - pathogenic (dominant) g.1817835C>T g.1767834C>T - - MAPK8IP3_000013 - PubMed: Iwasawa 2019 - - De novo - - - - - DNA SEQ-NG - WES NDD Fam3Pat4 PubMed: Iwasawa 2019 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.3439C>T r.(?) p.(Arg1147Cys) Unknown - pathogenic (dominant) g.1817835C>T g.1767834C>T - - MAPK8IP3_000013 - PubMed: Iwasawa 2019 - - De novo - - - - - DNA SEQ-NG - WES NDD Fam4Pat5 PubMed: Iwasawa 2019 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.3439C>T r.(?) p.(Arg1147Cys) Unknown - pathogenic (dominant) g.1817835C>T g.1767834C>T 3439C>T (Arg1147Cys) - MAPK8IP3_000013 - - - - Unknown - - - - - DNA SEQ-NG - WES NDD private email contact me for details - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.3439C>T r.(?) p.(Arg1147Cys) Unknown - pathogenic g.1817835C>T - - - MAPK8IP3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3440G>A r.(?) p.(Arg1147His) Unknown - VUS g.1817836G>A - MAPK8IP3(NM_001040439.1):c.3419G>A (p.(Arg1140His)), MAPK8IP3(NM_001040439.2):c.3419G>A (p.R1140H) - MRPS34_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3440G>A r.(?) p.(Arg1147His) Unknown ACMG VUS (!) g.1817836G>A g.1767835G>A - - MRPS34_000021 ACMG: PM5, PS2_SUP, PM2_SUP, PP2, confirmed de novo; p.Arg1147Cys known pathogenic variant - - - De novo - - - - - DNA SEQ-NG-I Blood - NEDBA 269025 - - F no ? (unknown) - - - - - 1 Andreas Laner
+?/. - c.3440G>A r.(?) p.(Arg1147His) Unknown - likely pathogenic g.1817836G>A - MAPK8IP3(NM_001040439.1):c.3419G>A (p.(Arg1140His)), MAPK8IP3(NM_001040439.2):c.3419G>A (p.R1140H) - MRPS34_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3590A>T r.(?) p.(Glu1197Val) Unknown - VUS g.1818227A>T - MAPK8IP3(NM_001040439.1):c.3569A>T (p.(Glu1190Val)) - MRPS34_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3598C>T r.(?) p.(Arg1200Cys) Unknown - likely benign g.1818235C>T - MAPK8IP3(NM_001040439.1):c.3577C>T (p.(Arg1193Cys)) - MRPS34_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3599G>A r.(?) p.(Arg1200His) Unknown - VUS g.1818236G>A - MAPK8IP3(NM_001040439.1):c.3578G>A (p.(Arg1193His)) - MRPS34_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3604G>A r.(?) p.(Gly1202Arg) Unknown - likely benign g.1818241G>A - MAPK8IP3(NM_001040439.1):c.3583G>A (p.(Gly1195Arg)), MAPK8IP3(NM_001040439.2):c.3583G>A (p.G1195R) - MRPS34_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3604G>A r.(?) p.(Gly1202Arg) Unknown - VUS g.1818241G>A - MAPK8IP3(NM_001040439.1):c.3583G>A (p.(Gly1195Arg)), MAPK8IP3(NM_001040439.2):c.3583G>A (p.G1195R) - MRPS34_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3826G>A r.(?) p.(Glu1276Lys) Unknown - likely benign g.1818561G>A - MAPK8IP3(NM_001318852.2):c.3826G>A (p.(Glu1276Lys)) - MRPS34_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3998C>T r.(?) p.(Ser1333Phe) Unknown - VUS g.1818809C>T - MAPK8IP3(NM_001040439.1):c.3977C>T (p.(Ser1326Phe)) - MRPS34_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4009G>A r.(?) p.(Glu1337Lys) Unknown - likely benign g.1818820G>A - MAPK8IP3(NM_001040439.2):c.3988G>A (p.E1330K) - MRPS34_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4009G>T r.(?) p.(Glu1337*) Unknown - VUS g.1818820G>T - MAPK8IP3(NM_001040439.1):c.3988G>T (p.(Glu1330*)) - MRPS34_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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