Full data view for gene MAP2K1

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

54 entries on 1 page. Showing entries 1 - 54.
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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.-8G>T r.(?) p.(=) Unknown - likely benign g.66679678G>T g.66387340G>T MAP2K1(NM_002755.4):c.-8G>T - MAP2K1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2A>G r.(?) p.(=) Unknown - benign g.66679684A>G g.66387346A>G MAP2K1(NM_002755.4):c.-2A>G - MAP2K1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2A>G r.(?) p.(=) Unknown - benign g.66679684A>G - MAP2K1(NM_002755.4):c.-2A>G - MAP2K1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6C>T r.(?) p.(Pro2=) Unknown - likely benign g.66679691C>T - MAP2K1(NM_002755.4):c.6C>T (p.P2=) - MAP2K1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.56C>G r.(?) p.(Ala19Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>T r.(?) p.(Arg47*) Unknown - VUS g.66727423C>T - MAP2K1(NM_002755.4):c.139C>T (p.(Arg47*)) - MAP2K1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.145C>T r.(?) p.(Arg49Cys) Unknown 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 - - - - - DNA SEQ-NG-S - - ? - - - ? - - - - - - - 1 Andreas Laner
-?/. - c.147C>A r.(?) p.(Arg49=) Unknown - likely benign g.66727431C>A - MAP2K1(NM_002755.3):c.147C>A (p.R49=) - MAP2K1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161T>C r.(?) p.(Leu54Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.169A>G r.(?) p.(Lys57Glu) Unknown - pathogenic g.66727453A>G - - - MAP2K1_000042 - - - rs397516790 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.199G>A r.(?) p.(Asp67Asn) Unknown - pathogenic g.66727483G>A g.66435145G>A - - MAP2K1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.199G>A r.(?) p.(Asp67Asn) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.237C>T r.(?) p.(Gly79=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.291+20C>T r.(=) p.(=) Unknown - benign g.66727595C>T g.66435257C>T MAP2K1(NM_002755.4):c.291+20C>T - MAP2K1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.292-12A>G r.(=) p.(=) Unknown - benign g.66729072A>G g.66436734A>G MAP2K1(NM_002755.4):c.292-12A>G - MAP2K1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301C>T r.(?) p.(Leu101=) Unknown - likely benign g.66729093C>T - MAP2K1(NM_002755.3):c.301C>T (p.L101=) - MAP2K1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.315C>T r.(?) p.(Pro105=) Unknown - 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=, p.(Pro105=)) - MAP2K1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.315C>T r.(?) p.(Pro105=) Unknown - benign g.66729107C>T - MAP2K1(NM_002755.3):c.315C>T (p.P105=), MAP2K1(NM_002755.4):c.315C>T (p.P105=, p.(Pro105=)) - MAP2K1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.315C>T r.(?) p.(Pro105=) Unknown - benign g.66729107C>T - MAP2K1(NM_002755.3):c.315C>T (p.P105=), MAP2K1(NM_002755.4):c.315C>T (p.P105=, p.(Pro105=)) - MAP2K1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.328C>T r.(?) p.(Gln110*) Unknown ACMG pathogenic g.66729120C>T - - - MAP2K1_000027 - PubMed: Mendonca 2021 - - Somatic - 0.049 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 64 PubMed: Mendonca 2021 patient with retinoblastoma M - Brazil - - - - - 1 Vanessa Mendonça
?/. - c.331A>T r.(?) p.(Ile111Phe) Unknown - VUS g.66729123A>T - MAP2K1(NM_002755.4):c.331A>T (p.I111F) - MAP2K1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.355C>T r.(?) p.(His119Tyr) Unknown ACMG likely pathogenic (dominant) g.66729147C>T - - - MAP2K1_000037 ACMG: PS2, PS4_MOD, PS3_SUP, PM2_SUP, PP2, confimred de novo in trio-exome PMID: 26633542, 24755471, 26582713, 12370306 VCV000040741.9 - De novo - - - - - DNA SEQ-NG-I blood - CFC3 253199 - - F no Germany - - - - - 1 Andreas Laner
+/. - c.383G>A r.(?) p.(Gly128Asp) Unknown - pathogenic g.66729175G>A g.66436837G>A - - MAP2K1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown ACMG pathogenic (dominant) g.66729181A>G g.66436843A>G - - MAP2K1_000017 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat61 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - likely pathogenic (dominant) g.66729181A>G g.66436843A>G - - MAP2K1_000017 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs121908595 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411227 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - pathogenic g.66729181A>G - MAP2K1(NM_002755.4):c.389A>G (p.Y130C) - MAP2K1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.438+20C>T r.(=) p.(=) Unknown - benign g.66729250C>T g.66436912C>T MAP2K1(NM_002755.4):c.438+20C>T - MAP2K1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.439-8G>A r.(=) p.(=) Unknown - likely benign g.66735610G>A g.66443272G>A - - MAP2K1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564C>T r.(?) p.(His188=) Unknown - likely benign g.66737041C>T g.66444703C>T - - MAP2K1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568+8845G>A r.(=) p.(=) Unknown - benign g.66745890G>A g.66453552G>A MAP2K1(NM_002755.4):c.568+8845G>A - MAP2K1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.608A>G r.(?) p.(Glu203Gly) Unknown - likely pathogenic (dominant) g.66774132A>G - - - MAP2K1_000034 - - - - De novo - - - - - DNA SEQ-NG - WES ID 199P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
-/. - c.648C>T r.(?) p.(Ile216=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.694-8_694-7dup r.(=) p.(=) Unknown - benign g.66777320_66777321dup g.66484982_66484983dup MAP2K1(NM_002755.3):c.694-8_694-7dup (p.(=)), MAP2K1(NM_002755.4):c.694-8_694-7dupTC - MAP2K1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.694-8_694-7dup r.(=) p.(=) Unknown - likely benign g.66777320_66777321dup - MAP2K1(NM_002755.3):c.694-8_694-7dup (p.(=)), MAP2K1(NM_002755.4):c.694-8_694-7dupTC - MAP2K1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.711G>A r.(?) p.(Gly237=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711G>A r.(?) p.(Gly237=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.795_797del r.(?) p.(Pro266del) Unknown - VUS g.66777429_66777431del - MAP2K1(NM_002755.4):c.795_797delTCC (p.P266del) - MAP2K1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.804C>G r.(?) p.(Ala268=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.804C>G r.(?) p.(Ala268=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.914G>A r.(?) p.(Arg305Gln) Unknown - VUS g.66779584G>A g.66487246G>A - - MAP2K1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928A>G r.(?) p.(Ile310Val) Unknown - VUS g.66779598A>G - MAP2K1(NM_002755.3):c.928A>G (p.(Ile310Val)) - MAP2K1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.983_987del r.(?) p.(Gly328Valfs*11) Unknown - VUS g.66781575_66781579del - MAP2K1(NM_002755.4):c.983_987delGAGTG (p.G328Vfs*11) - MAP2K1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1023-8C>T r.(=) p.(=) Unknown - benign g.66782048C>T g.66489710C>T MAP2K1(NM_002755.4):c.1023-8C>T - MAP2K1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1034A>C r.(?) p.(Asn345Thr) Unknown - VUS g.66782067A>C - MAP2K1(NM_002755.4):c.1034A>C (p.N345T) - MAP2K1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1039G>A r.(?) p.(Ala347Thr) Unknown - VUS g.66782072G>A - MAP2K1(NM_002755.4):c.1039G>A (p.A347T) - MAP2K1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1068+9A>G r.(=) p.(=) Unknown - likely benign g.66782110A>G - MAP2K1(NM_002755.3):c.1068+9A>G, MAP2K1(NM_002755.4):c.1068+9A>G - MAP2K1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1068+9A>G r.(=) p.(=) Unknown - likely benign g.66782110A>G - MAP2K1(NM_002755.3):c.1068+9A>G, MAP2K1(NM_002755.4):c.1068+9A>G - MAP2K1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1068+12_1068+15del r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1068+12_1068+15del r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1123C>A r.(?) p.(Leu375Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137C>T r.(?) p.(Ile379=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4735C>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9687C>T r.(=) p.(=) Unknown - VUS g.66792640C>T - RPL4(NM_000968.3):c.908G>A (p.(Arg303Gln)) - MAP2K1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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