Full data view for gene MAP3K1

Information The variants shown are described using the NM_005921.1 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
+?/. 1 c.14_16dup r.(?) p.(Ala5dup) Parent #1 - likely pathogenic (dominant) g.56111414_56111416dup g.56815587_56815589dup 14_16insCGG - MAP3K1_000033 - PubMed: Granados 2017 - - Germline - - - - - DNA SEQ - - DSD Fam1 PubMed: Granados 2017 2-generation family, 2 affected 46,XY females, 1 unaffected heterozygous carrier female (46,XX) rF - United States white - - - - 2 Johan den Dunnen
?/. - c.14_16dup r.(?) p.(Ala5dup) Unknown - VUS g.56111414_56111416dup g.56815587_56815589dup MAP3K1(NM_005921.1):c.14_16dupCGG (p.(Ala5dup)), MAP3K1(NM_005921.2):c.14_16dupCGG (p.A5dup) - MAP3K1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14_16dup r.(?) p.(Ala5dup) Unknown - likely benign g.56111414_56111416dup - MAP3K1(NM_005921.1):c.14_16dupCGG (p.(Ala5dup)), MAP3K1(NM_005921.2):c.14_16dupCGG (p.A5dup) - MAP3K1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15G>A r.(?) p.(Ala5=) Unknown - likely benign g.56111415G>A - MAP3K1(NM_005921.1):c.15G>A (p.(Ala5=)) - MAP3K1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25G>A r.(?) p.(Ala9Thr) Unknown - likely benign g.56111425G>A g.56815598G>A MAP3K1(NM_005921.1):c.25G>A (p.A9T) - MAP3K1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35C>T r.(?) p.(Ser12Leu) Unknown - VUS g.56111435C>T - MAP3K1(NM_005921.1):c.35C>T (p.(Ser12Leu)) - MAP3K1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.152G>C r.(?) p.(Gly51Ala) Unknown - likely pathogenic g.56111552G>C g.56815725G>C MAP3K1(NM_005921.1):c.152G>C (p.G51A) - MAP3K1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185T>G r.(?) p.(Leu62Arg) Unknown - VUS g.56111585T>G g.56815758T>G MAP3K1(NM_005921.1):c.185T>G (p.(Leu62Arg)) - MAP3K1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216G>C r.(?) p.(Gln72His) Unknown - likely benign g.56111616G>C g.56815789G>C MAP3K1(NM_005921.1):c.216G>C (p.(Gln72His)) - MAP3K1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241G>T r.(?) p.(Ala81Ser) Unknown - likely benign g.56111641G>T g.56815814G>T MAP3K1(NM_005921.1):c.241G>T (p.A81S) - MAP3K1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242C>T r.(?) p.(Ala81Val) Unknown - VUS g.56111642C>T - MAP3K1(NM_005921.1):c.242C>T (p.(Ala81Val)) - MAP3K1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347C>G r.(?) p.(Ala116Gly) Unknown - likely benign g.56111747C>G - MAP3K1(NM_005921.1):c.347C>G (p.(Ala116Gly)) - MAP3K1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351G>C r.(?) p.(Ala117=) Unknown - benign g.56111751G>C g.56815924G>C MAP3K1(NM_005921.1):c.351G>C (p.A117=), MAP3K1(NM_005921.2):c.351G>C (p.A117=) - MAP3K1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351G>C r.(?) p.(Ala117=) Unknown - benign g.56111751G>C g.56815924G>C MAP3K1(NM_005921.1):c.351G>C (p.A117=), MAP3K1(NM_005921.2):c.351G>C (p.A117=) - MAP3K1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.394G>C r.(?) p.(Asp132His) Parent #1 - VUS g.56111794G>C g.56815967G>C - - MAP3K1_000029 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat249 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
?/. - c.400G>A r.(?) p.(Gly134Ser) Unknown - VUS g.56111800G>A g.56815973G>A MAP3K1(NM_005921.1):c.400G>A (p.G134S) - MAP3K1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.458C>A r.(?) p.(Pro153Gln) Unknown - likely benign g.56111858C>A - MAP3K1(NM_005921.1):c.458C>A (p.P153Q) - MAP3K1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.458C>T r.(?) p.Pro153Leu Parent #1 - likely pathogenic (dominant) g.56111858C>T g.56816031C>T - - MAP3K1_000024 - PubMed: Loke 2014 - - Germline - - - - - DNA SEQ - - DSD patient PubMed: Loke 2014 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.458C>T r.(?) p.(Pro153Leu) Unknown - likely benign g.56111858C>T - MAP3K1(NM_005921.1):c.458C>T (p.P153L), MAP3K1(NM_005921.2):c.458C>T (p.(Pro153Leu)) - MAP3K1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.458C>T r.(?) p.(Pro153Leu) Unknown - likely benign g.56111858C>T - MAP3K1(NM_005921.1):c.458C>T (p.P153L), MAP3K1(NM_005921.2):c.458C>T (p.(Pro153Leu)) - MAP3K1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483-11C>A r.(=) p.(=) Unknown - benign g.56152416C>A g.56856589C>A MAP3K1(NM_005921.1):c.483-11C>A, MAP3K1(NM_005921.2):c.483-11C>A - MAP3K1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483-11C>A r.(=) p.(=) Unknown - benign g.56152416C>A g.56856589C>A MAP3K1(NM_005921.1):c.483-11C>A, MAP3K1(NM_005921.2):c.483-11C>A - MAP3K1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.566T>A r.(?) p.(Leu189Gln) Parent #1 - likely pathogenic (dominant) g.56152510T>A g.56856683T>A - - MAP3K1_000036 - PubMed: Granados 2017 - - Germline - - - - - DNA SEQ - - DSD Pat6 PubMed: Granados 2017 - rF - United States African American - - - - 1 Johan den Dunnen
+?/. 2 c.566T>C r.(?) p.(Leu189Pro) Parent #1 - likely pathogenic (dominant) g.56152510T>C g.56856683T>C - - MAP3K1_000022 - PubMed: Pearlman 2010 - - Germline - - - - - DNA SEQ - - DSD Pat2 PubMed: Pearlman 2010 - F - - - - - - - 1 Johan den Dunnen
+?/. 2 c.566T>G r.(?) p.(Leu189Arg) Parent #1 - likely pathogenic (dominant) g.56152510T>G g.56856683T>G - - MAP3K1_000023 - PubMed: Pearlman 2010 - - Germline - - - - - DNA SEQ - - DSD Pat1 PubMed: Pearlman 2010 - F - - - - - - - 1 Johan den Dunnen
+/. 2 c.566T>G r.(?) p.(Leu189Arg) Parent #1 - pathogenic (dominant) g.56152510T>G g.56856683T>G - - MAP3K1_000023 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat10 PubMed: Eggers 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 2 c.566T>G r.(?) p.(Leu189Arg) Parent #1 - pathogenic (dominant) g.56152510T>G g.56856683T>G - - MAP3K1_000023 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat141 PubMed: Eggers 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 2i c.634-8T>A r.633_634ins634-6_634-1 p.Val211_Val212insIleGln Parent #1 - pathogenic (dominant) g.56155534T>A g.56859707T>A - - MAP3K1_000037 - PubMed: Pearlman 2010 - - Germline - - - - - DNA SEQ - - DSD Fam1 PubMed: Pearlman 2010 5-generation family, 11 affected (5F, 6M) F;M - France - - - - - 11 Johan den Dunnen
?/. 3 c.710A>G r.(?) p.(Gln237Arg) Parent #1 - VUS g.56155618A>G g.56859791A>G - - MAP3K1_000031 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat148 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.720G>A r.(?) p.(Ala240=) Unknown - likely benign g.56155628G>A g.56859801G>A MAP3K1(NM_005921.1):c.720G>A (p.A240=), MAP3K1(NM_005921.2):c.720G>A (p.A240=) - MAP3K1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720G>A r.(?) p.(Ala240=) Unknown - likely benign g.56155628G>A - MAP3K1(NM_005921.1):c.720G>A (p.A240=), MAP3K1(NM_005921.2):c.720G>A (p.A240=) - MAP3K1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757C>T r.(?) p.(Pro253Ser) Unknown - VUS g.56155665C>T g.56859838C>T MAP3K1(NM_005921.1):c.757C>T (p.P253S) - MAP3K1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.764A>G r.(?) p.(Asn255Ser) Unknown - benign g.56155672A>G g.56859845A>G MAP3K1(NM_005921.1):c.764A>G (p.N255S, p.(Asn255Ser)) - MAP3K1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.764A>G r.(?) p.(Asn255Ser) Unknown - likely benign g.56155672A>G g.56859845A>G MAP3K1(NM_005921.1):c.764A>G (p.N255S, p.(Asn255Ser)) - MAP3K1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.770C>T r.(?) p.(Pro257Leu) Parent #1 - likely pathogenic (dominant) g.56155678C>T g.56859851C>T - - MAP3K1_000027 - PubMed: Baxter 2015 - - Germline - - - - - DNA SEQ - - DSD CDSD040 PubMed: Baxter 2015 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.914del r.(?) p.(Asn305ThrfsTer7) Unknown - pathogenic g.56160640del - - - MAP3K1_000062 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917G>A r.(?) p.(Arg306His) Unknown - VUS g.56160643G>A g.56864816G>A MAP3K1(NM_005921.1):c.917G>A (p.R306H) - MAP3K1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.934A>T r.(?) p.(Met312Leu) Parent #1 - likely pathogenic (dominant) g.56160660A>T g.56864833A>T - - MAP3K1_000032 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat175 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
+?/. 4 c.934A>T r.(?) p.(Met312Leu) Parent #1 - likely pathogenic (dominant) g.56160660A>T g.56864833A>T - - MAP3K1_000032 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat166 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
+?/. 4 c.934A>T r.(?) p.(Met312Leu) Parent #1 - likely pathogenic (dominant) g.56160660A>T g.56864833A>T - - MAP3K1_000032 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat229 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
+?/. 4 c.934A>T r.(?) p.(Met312Leu) Parent #1 - likely pathogenic (dominant) g.56160660A>T g.56864833A>T - - MAP3K1_000032 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat214 PubMed: Eggers 2016 - F - - - - - - - 1 Johan den Dunnen
+?/. 4 c.1016G>A r.(?) p.(Arg339Gln) Parent #1 - likely pathogenic (dominant) g.56160742G>A g.56864915G>A - - MAP3K1_000026 - PubMed: Baxter 2015 - - Germline - - - - - DNA SEQ - - DSD RDSD017 PubMed: Baxter 2015 - F - United States - - - - - 1 Johan den Dunnen
-/. - c.1284G>A r.(?) p.(Thr428=) Unknown - benign g.56161787G>A g.56865960G>A MAP3K1(NM_005921.1):c.1284G>A (p.T428=), MAP3K1(NM_005921.2):c.1284G>A (p.T428=) - MAP3K1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1284G>A r.(?) p.(Thr428=) Unknown - benign g.56161787G>A g.56865960G>A MAP3K1(NM_005921.1):c.1284G>A (p.T428=), MAP3K1(NM_005921.2):c.1284G>A (p.T428=) - MAP3K1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1284G>A r.(?) p.(Thr428=) Unknown - benign g.56161787G>A g.56865960G>A MAP3K1(NM_005921.1):c.1284G>A (p.T428=), MAP3K1(NM_005921.2):c.1284G>A (p.T428=) - MAP3K1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1566C>T r.(?) p.(Thr522=) Unknown - benign g.56168712C>T g.56872885C>T MAP3K1(NM_005921.1):c.1566C>T (p.T522=), MAP3K1(NM_005921.2):c.1566C>T (p.(Thr522=)) - MAP3K1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1566C>T r.(=) p.(=) Parent #1 - benign g.56168712C>T g.56872885C>T - - MAP3K1_000008 167 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229882 Germline - 167/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 167 Mohammed Faruq
-/. - c.1566C>T r.(=) p.(=) Both (homozygous) - benign g.56168712C>T g.56872885C>T - - MAP3K1_000008 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229882 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.1566C>T r.(?) p.(Thr522=) Unknown - likely benign g.56168712C>T - MAP3K1(NM_005921.1):c.1566C>T (p.T522=), MAP3K1(NM_005921.2):c.1566C>T (p.(Thr522=)) - MAP3K1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1760T>A r.(?) p.(Leu587His) Parent #1 - likely pathogenic (dominant) g.56170932T>A g.56875105T>A - - MAP3K1_000034 - PubMed: Granados 2017 - - Germline - - - - - DNA SEQ - - DSD Fam2 PubMed: Granados 2017 2-generation family, 3 affected 46,XY females, 1 unaffected heterozygous carrier female (46,XX) rF - United States white - - - - 2 Johan den Dunnen
+/. 10 c.1846G>A r.(?) p.(Gly616Arg) Parent #1 - pathogenic (dominant) g.56171018G>A g.56875191G>A - - MAP3K1_000021 - PubMed: Pearlman 2010 - - Germline - - - - - DNA SEQ - - DSD Fam2 PubMed: Pearlman 2010 3-generation family, 5 affected (5F) F - New Zealand - - - - - 5 Johan den Dunnen
+/. 10 c.1846G>A r.(?) p.(Gly616Arg) Parent #1 - pathogenic (dominant) g.56171018G>A g.56875191G>A - - MAP3K1_000021 - PubMed: Baxter 2015 - - Germline - - - - - DNA SEQ - - DSD RDSD014 PubMed: Baxter 2015 - F - United States - - - - - 1 Johan den Dunnen
+/. 10 c.1846G>A r.(?) p.(Gly616Arg) Parent #1 - pathogenic (dominant) g.56171018G>A g.56875191G>A - - MAP3K1_000021 - PubMed: Baxter 2015 - - Germline - - - - - DNA SEQ - - DSD RDSD023 PubMed: Baxter 2015 - rM - United States - - - - - 1 Johan den Dunnen
-?/. - c.1846G>A r.(?) p.(Gly616Arg) Unknown - likely benign g.56171018G>A g.56875191G>A - - MAP3K1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.2071T>C r.(?) p.(Cys691Arg) Parent #1 - likely pathogenic (dominant) g.56174912T>C g.56879085T>C - - MAP3K1_000028 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat13 PubMed: Eggers 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 12i c.2180-2A>G r.[2180_2284del, 2180_2369del] p.[Gly727_Ile761del, Ser728Ilefs*8] Parent #1 - pathogenic (dominant) g.56176908A>G g.56881081A>G - - MAP3K1_000025 - PubMed: Loke 2014 - - Germline - - - - - DNA SEQ - - DSD family PubMed: Loke 2014 3-generation family, 3 affected 46,XY females F - - - - - - - 1 Johan den Dunnen
+/. - c.2185_2209dup r.(?) p.(Val737AspfsTer7) Unknown - pathogenic g.56176915_56176939dup - - - MAP3K1_000063 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.2291T>G r.(?) p.(Leu764Arg) Parent #1 - likely pathogenic (dominant) g.56177021T>G g.56881194T>G - - MAP3K1_000035 - PubMed: Granados 2017 - - Germline - - - - - DNA SEQ - - DSD Pat5 PubMed: Granados 2017 - rF - United States African American - - - - 1 Johan den Dunnen
-/. - c.2370-28T>C r.(=) p.(=) Unknown - benign g.56177369T>C g.56881542T>C MAP3K1(NM_005921.2):c.2370-28T>C - MAP3K1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2416G>A r.(?) p.(Asp806Asn) Unknown - benign g.56177443G>A g.56881616G>A MAP3K1(NM_005921.1):c.2416G>A (p.D806N), MAP3K1(NM_005921.2):c.2416G>A (p.D806N) - MAP3K1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2416G>A r.(?) p.(Asp806Asn) Unknown - benign g.56177443G>A g.56881616G>A MAP3K1(NM_005921.1):c.2416G>A (p.D806N), MAP3K1(NM_005921.2):c.2416G>A (p.D806N) - MAP3K1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2716G>A r.(?) p.(Val906Ile) Unknown - benign g.56177743G>A g.56881916G>A MAP3K1(NM_005921.1):c.2716G>A (p.V906I), MAP3K1(NM_005921.2):c.2716G>A (p.V906I) - MAP3K1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2716G>A r.(?) p.(Val906Ile) Unknown - benign g.56177743G>A g.56881916G>A MAP3K1(NM_005921.1):c.2716G>A (p.V906I), MAP3K1(NM_005921.2):c.2716G>A (p.V906I) - MAP3K1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2816C>G r.(?) p.(Ser939Cys) Unknown - benign g.56177843C>G g.56882016C>G MAP3K1(NM_005921.1):c.2816C>G (p.S939C, p.(Ser939Cys)) - MAP3K1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2816C>G r.(?) p.(Ser939Cys) Unknown - likely benign g.56177843C>G g.56882016C>G MAP3K1(NM_005921.1):c.2816C>G (p.S939C, p.(Ser939Cys)) - MAP3K1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2836_2847del r.(?) p.(Thr946_Thr949del) Unknown - likely benign g.56177863_56177874del g.56882036_56882047del MAP3K1(NM_005921.1):c.2822_2833del (p.(Thr946_Thr949del)) - MAP3K1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2842_2847del r.(?) p.(Thr948_Thr949del) Unknown - VUS g.56177869_56177874del g.56882042_56882047del MAP3K1(NM_005921.1):c.2822_2827del (p.(Thr944_Thr945del)) - MAP3K1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2845_2847del r.(?) p.(Thr949del) Unknown - benign g.56177872_56177874del g.56882045_56882047del MAP3K1(NM_005921.1):c.2822_2824del (p.(Thr944del)), MAP3K1(NM_005921.1):c.2845_2847delACA (p.T949del), MAP3K1(NM_005921.2):c.2845_2847delACA (p.T9...) - MAP3K1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2845_2847del r.(?) p.(Thr949del) Unknown - benign g.56177872_56177874del g.56882045_56882047del MAP3K1(NM_005921.1):c.2822_2824del (p.(Thr944del)), MAP3K1(NM_005921.1):c.2845_2847delACA (p.T949del), MAP3K1(NM_005921.2):c.2845_2847delACA (p.T9...) - MAP3K1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2845_2847del r.(?) p.(Thr949del) Unknown - benign g.56177872_56177874del g.56882045_56882047del MAP3K1(NM_005921.1):c.2822_2824del (p.(Thr944del)), MAP3K1(NM_005921.1):c.2845_2847delACA (p.T949del), MAP3K1(NM_005921.2):c.2845_2847delACA (p.T9...) - MAP3K1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2845_2847del r.(?) p.(Thr949del) Unknown - VUS g.56177872_56177874del g.56882045_56882047del MAP3K1(NM_005921.1):c.2822_2824del (p.(Thr944del)), MAP3K1(NM_005921.1):c.2845_2847delACA (p.T949del), MAP3K1(NM_005921.2):c.2845_2847delACA (p.T9...) - MAP3K1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2845_2847dup r.(?) p.(Thr949dup) Unknown - likely benign g.56177872_56177874dup g.56882045_56882047dup MAP3K1(NM_005921.1):c.2845_2847dupACA (p.T949dup) - MAP3K1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2965_2967del r.(?) p.(Ser989del) Unknown - VUS g.56177992_56177994del - MAP3K1(NM_005921.1):c.2965_2967delTCT (p.(Ser989del)) - MAP3K1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3084A>G r.(?) p.(Gln1028=) Unknown - benign g.56178111A>G g.56882284A>G MAP3K1(NM_005921.1):c.3084A>G (p.Q1028=) - MAP3K1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3190A>C r.(?) p.(Arg1064=) Unknown - benign g.56178217A>C g.56882390A>C MAP3K1(NM_005921.1):c.3190A>C (p.R1064=), MAP3K1(NM_005921.2):c.3190A>C (p.R1064=) - MAP3K1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3190A>C r.(?) p.(Arg1064=) Unknown - benign g.56178217A>C g.56882390A>C MAP3K1(NM_005921.1):c.3190A>C (p.R1064=), MAP3K1(NM_005921.2):c.3190A>C (p.R1064=) - MAP3K1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3242T>A r.(?) p.(Met1081Lys) Unknown - likely benign g.56178269T>A - MAP3K1(NM_005921.1):c.3242T>A (p.(Met1081Lys)) - MAP3K1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3272G>A r.(?) p.(Cys1091Tyr) Unknown - likely benign g.56178299G>A - MAP3K1(NM_005921.1):c.3272G>A (p.(Cys1091Tyr)) - MAP3K1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3317T>C r.(?) p.(Ile1106Thr) Unknown - VUS g.56178344T>C g.56882517T>C MAP3K1(NM_005921.1):c.3317T>C (p.I1106T) - MAP3K1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3560A>C r.(?) p.(Glu1187Ala) Unknown - likely benign g.56178587A>C - MAP3K1(NM_005921.1):c.3560A>C (p.E1187A) - MAP3K1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3560_3562del r.(?) p.(Glu1187del) Unknown - VUS g.56178587_56178589del - MAP3K1(NM_005921.2):c.3560_3562del (p.(Glu1187del)) - MAP3K1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3667-13G>A r.(=) p.(=) Unknown - benign g.56179341G>A g.56883514G>A MAP3K1(NM_005921.1):c.3667-13G>A - MAP3K1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3820-11A>G r.(=) p.(=) Unknown - benign g.56180480A>G g.56884653A>G MAP3K1(NM_005921.1):c.3820-11A>G - MAP3K1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3820-6A>T r.(=) p.(=) Unknown - VUS g.56180485A>T g.56884658A>T MAP3K1(NM_005921.1):c.3820-6A>T (p.(=)) - MAP3K1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4091A>G r.(?) p.(Gln1364Arg) Unknown - likely benign g.56181867A>G - MAP3K1(NM_005921.1):c.4091A>G (p.(Gln1364Arg)) - MAP3K1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.4151dup r.(?) p.(Arg1385Lysfs*35) Unknown - VUS g.56183241dup g.56887414dup 4151dupT - MAP3K1_000047 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.4241C>G r.(?) p.(Ala1414Gly) Unknown - VUS g.56183331C>G g.56887504C>G MAP3K1(NM_005921.1):c.4241C>G (p.(Ala1414Gly)) - MAP3K1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 19 c.4328C>T r.(?) p.(Ala1443Val) Parent #1 - likely pathogenic (dominant) g.56184123C>T g.56888296C>T - - MAP3K1_000030 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat141 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. 19 c.4328C>T r.(?) p.(Ala1443Val) Parent #1 - likely pathogenic (dominant) g.56184123C>T g.56888296C>T - - MAP3K1_000030 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat194 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.4328C>T r.(?) p.(Ala1443Val) Unknown - likely benign g.56184123C>T - MAP3K1(NM_005921.1):c.4328C>T (p.A1443V) - MAP3K1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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