All variants in the MAP2K1 gene

Information The variants shown are described using the NM_002755.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-8G>T r.(?) p.(=) - likely benign g.66679678G>T g.66387340G>T MAP2K1(NM_002755.4):c.-8G>T - MAP2K1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-2A>G r.(?) p.(=) - benign g.66679684A>G g.66387346A>G MAP2K1(NM_002755.4):c.-2A>G - MAP2K1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-2A>G r.(?) p.(=) - benign g.66679684A>G - MAP2K1(NM_002755.4):c.-2A>G - MAP2K1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.6C>T r.(?) p.(Pro2=) - likely benign g.66679691C>T - MAP2K1(NM_002755.4):c.6C>T (p.P2=) - MAP2K1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.56C>G r.(?) p.(Ala19Gly) - likely benign g.66679741C>G g.66387403C>G MAP2K1(NM_002755.3):c.56C>G (p.A19G) - MAP2K1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.145C>T r.(?) p.(Arg49Cys) ACMG likely pathogenic g.66727429C>T - - - MAP2K1_000026 ACMG grading: PS2,PM2,PP2,PP3 de novo (trio exome) Gao et al. 2018. Zhonghua Yi Xue Za Zhi 98: 3426 - - Germline - - - - - Andreas Laner
-?/. - c.147C>A r.(?) p.(Arg49=) - likely benign g.66727431C>A - MAP2K1(NM_002755.3):c.147C>A (p.R49=) - MAP2K1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.161T>C r.(?) p.(Leu54Pro) - VUS g.66727445T>C g.66435107T>C MAP2K1(NM_002755.3):c.161T>C (p.L54P) - MAP2K1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.199G>A r.(?) p.(Asp67Asn) - pathogenic g.66727483G>A g.66435145G>A - - MAP2K1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.199G>A r.(?) p.(Asp67Asn) - pathogenic g.66727483G>A g.66435145G>A - - MAP2K1_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs727504317 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. - c.237C>T r.(?) p.(Gly79=) - likely benign g.66727521C>T g.66435183C>T MAP2K1(NM_002755.3):c.237C>T (p.G79=) - MAP2K1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.291+20C>T r.(=) p.(=) - benign g.66727595C>T g.66435257C>T MAP2K1(NM_002755.4):c.291+20C>T - MAP2K1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.292-12A>G r.(=) p.(=) - benign g.66729072A>G g.66436734A>G MAP2K1(NM_002755.4):c.292-12A>G - MAP2K1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.301C>T r.(?) p.(Leu101=) - likely benign g.66729093C>T - MAP2K1(NM_002755.3):c.301C>T (p.L101=) - MAP2K1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.315C>T r.(?) p.(Pro105=) - likely benign g.66729107C>T g.66436769C>T MAP2K1(NM_002755.3):c.315C>T (p.P105=), MAP2K1(NM_002755.4):c.315C>T (p.P105=) - MAP2K1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.315C>T r.(?) p.(Pro105=) - benign g.66729107C>T - MAP2K1(NM_002755.3):c.315C>T (p.P105=), MAP2K1(NM_002755.4):c.315C>T (p.P105=) - MAP2K1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.328C>T r.(?) p.(Gln110*) ACMG pathogenic g.66729120C>T - - - MAP2K1_000027 - PubMed: Mendonca 2021 - - Somatic - 0.049 - - - Vanessa Mendonça
?/. - c.331A>T r.(?) p.(Ile111Phe) - VUS g.66729123A>T - MAP2K1(NM_002755.4):c.331A>T (p.I111F) - MAP2K1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.383G>A r.(?) p.(Gly128Asp) - pathogenic g.66729175G>A g.66436837G>A - - MAP2K1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.389A>G r.(?) p.(Tyr130Cys) - pathogenic g.66729181A>G g.66436843A>G MAP2K1(NM_002755.4):c.389A>G (p.Y130C) - MAP2K1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.389A>G r.(?) p.(Tyr130Cys) ACMG pathogenic (dominant) g.66729181A>G g.66436843A>G - - MAP2K1_000017 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
+?/. - c.389A>G r.(?) p.(Tyr130Cys) - likely pathogenic (dominant) g.66729181A>G g.66436843A>G - - MAP2K1_000017 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs121908595 Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.389A>G r.(?) p.(Tyr130Cys) - pathogenic g.66729181A>G - MAP2K1(NM_002755.4):c.389A>G (p.Y130C) - MAP2K1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.438+20C>T r.(=) p.(=) - benign g.66729250C>T g.66436912C>T MAP2K1(NM_002755.4):c.438+20C>T - MAP2K1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.439-8G>A r.(=) p.(=) - likely benign g.66735610G>A g.66443272G>A - - MAP2K1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.564C>T r.(?) p.(His188=) - likely benign g.66737041C>T g.66444703C>T - - MAP2K1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.568+8845G>A r.(=) p.(=) - benign g.66745890G>A g.66453552G>A MAP2K1(NM_002755.4):c.568+8845G>A - MAP2K1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.608A>G r.(?) p.(Glu203Gly) - likely pathogenic (dominant) g.66774132A>G - - - MAP2K1_000034 - - - - De novo - - - - - Alejandro Brea-Fernández
-/. - c.648C>T r.(?) p.(Ile216=) - benign g.66774172C>T g.66481834C>T MAP2K1(NM_002755.4):c.648C>T (p.I216=) - MAP2K1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.694-8_694-7dup r.(=) p.(=) - benign g.66777320_66777321dup g.66484982_66484983dup MAP2K1(NM_002755.3):c.694-13_694-12insTC (p.(=)), MAP2K1(NM_002755.4):c.694-8_694-7dupTC - MAP2K1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.694-8_694-7dup r.(=) p.(=) - likely benign g.66777320_66777321dup - MAP2K1(NM_002755.3):c.694-13_694-12insTC (p.(=)), MAP2K1(NM_002755.4):c.694-8_694-7dupTC - MAP2K1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.711G>A r.(?) p.(Gly237=) - benign g.66777345G>A g.66485007G>A MAP2K1(NM_002755.3):c.711G>A (p.(Gly237=)), MAP2K1(NM_002755.4):c.711G>A (p.G237=) - MAP2K1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.711G>A r.(?) p.(Gly237=) - likely benign g.66777345G>A g.66485007G>A MAP2K1(NM_002755.3):c.711G>A (p.(Gly237=)), MAP2K1(NM_002755.4):c.711G>A (p.G237=) - MAP2K1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.795_797del r.(?) p.(Pro266del) - VUS g.66777429_66777431del - MAP2K1(NM_002755.4):c.795_797delTCC (p.P266del) - MAP2K1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.804C>G r.(?) p.(Ala268=) - benign g.66777438C>G g.66485100C>G MAP2K1(NM_002755.4):c.804C>G (p.A268=) - MAP2K1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.804C>G r.(?) p.(Ala268=) - benign g.66777438C>G g.66485100C>G MAP2K1(NM_002755.4):c.804C>G (p.A268=) - MAP2K1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.914G>A r.(?) p.(Arg305Gln) - VUS g.66779584G>A g.66487246G>A - - MAP2K1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.983_987del r.(?) p.(Gly328Valfs*11) - VUS g.66781575_66781579del - MAP2K1(NM_002755.4):c.983_987delGAGTG (p.G328Vfs*11) - MAP2K1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1023-8C>T r.(=) p.(=) - benign g.66782048C>T g.66489710C>T MAP2K1(NM_002755.4):c.1023-8C>T - MAP2K1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1034A>C r.(?) p.(Asn345Thr) - VUS g.66782067A>C - MAP2K1(NM_002755.4):c.1034A>C (p.N345T) - MAP2K1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1068+9A>G r.(=) p.(=) - likely benign g.66782110A>G - MAP2K1(NM_002755.3):c.1068+9A>G - MAP2K1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1068+12_1068+15del r.(=) p.(=) - likely benign g.66782113_66782116del g.66489775_66489778del MAP2K1(NM_002755.3):c.1068+12_1068+15delTATT, MAP2K1(NM_002755.4):c.1068+12_1068+15delTATT - MAP2K1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1068+12_1068+15del r.(=) p.(=) - benign g.66782113_66782116del g.66489775_66489778del MAP2K1(NM_002755.3):c.1068+12_1068+15delTATT, MAP2K1(NM_002755.4):c.1068+12_1068+15delTATT - MAP2K1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1123C>A r.(?) p.(Leu375Ile) - likely benign g.66782894C>A g.66490556C>A MAP2K1(NM_002755.3):c.1123C>A (p.(Leu375Ile)) - MAP2K1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1137C>T r.(?) p.(Ile379=) - likely benign g.66782908C>T g.66490570C>T MAP2K1(NM_002755.4):c.1137C>T (p.I379=), SNAPC5(NM_006049.4):c.*169G>A - MAP2K1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*4735C>A r.(=) p.(=) - VUS g.66787688C>A g.66495350C>A SNAPC5(NM_006049.2):c.160G>T (p.(Val54Leu)) - SNAPC5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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