All variants in the MAP3K7 gene

Information The variants shown are described using the NM_145331.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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.101A>C r.(?) p.(Lys34Thr) - VUS g.91296502T>G - MAP3K7(NM_145331.3):c.101A>C (p.K34T) - MAP3K7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.143G>A r.(?) p.(Gly48Glu) - likely pathogenic g.91281504C>T g.90571785C>T - - MAP3K7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.208G>C r.(?) p.(Glu70Gln) - likely pathogenic g.91281439C>G g.90571720C>G - - MAP3K7_000004 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+?/. - c.248G>A r.(?) p.(Arg83His) - likely pathogenic g.91278326C>T g.90568607C>T MAP3K7(NM_145331.3):c.248G>A (p.(Arg83His)) - MAP3K7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.248G>A r.(?) p.(Arg83His) - likely pathogenic g.91278326C>T - MAP3K7(NM_145331.3):c.248G>A (p.(Arg83His)) - MAP3K7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.298-8del r.(=) p.(=) - likely benign g.91271396del - MAP3K7(NM_145331.3):c.298-8del - MAP3K7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.299T>A r.(?) p.(Val100Glu) - likely pathogenic g.91271385A>T g.90561666A>T - - MAP3K7_000003 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+?/. - c.329G>A r.(?) p.(Gly110Asp) - likely pathogenic g.91271355C>T g.90561636C>T - - MAP3K7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.337T>G r.(?) p.(Tyr113Asp) - VUS g.91271347A>C g.90561628A>C MAP3K7(NM_145331.2):c.337T>G (p.Y113D) - MAP3K7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.388G>A r.(?) p.(Ala130Thr) - likely benign g.91269889C>T - MAP3K7(NM_145331.3):c.388G>A (p.(Ala130Thr)) - MAP3K7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.448A>G r.(?) p.(Lys150Glu) - VUS g.91269829T>C - MAP3K7(NM_145331.3):c.448A>G (p.K150E) - MAP3K7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.465G>C r.(?) p.(Arg155Ser) - likely pathogenic g.91269812C>G - MAP3K7(NM_145331.3):c.465G>C (p.R155S) - MAP3K7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.502G>C r.(?) p.(Gly168Arg) - likely pathogenic g.91266324C>G g.90556605C>G - - MAP3K7_000007 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - Jamie Zeegers
+?/. - c.571G>A r.(?) p.(Gly191Arg) - likely pathogenic (recessive) g.91266255C>T g.90556536C>T - - MAP3K7_000022 ACMG PM1, PM2, PP2, PP3, PS2, PS3 PubMed: Schuermans 2022 - - De novo - - - - - Johan den Dunnen
+?/. - c.575G>A r.(?) p.(Ser192Asn) ACMG likely pathogenic (dominant) g.91266251C>T - - - MAP3K7_000024 ACMG: PS2, PM5, PM2_SUP; confirmed de novo in trio-exom; p.(Ser192Gly) published as a de novo pathogenic variant (PMID:31713904) - - - De novo - - - - - Andreas Laner
?/. - c.586A>G r.(?) p.(Met196Val) - VUS g.91266240T>C g.90556521T>C MAP3K7(NM_145331.2):c.586A>G (p.M196V) - MAP3K7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.589G>A r.(?) p.(Ala197Thr) - likely pathogenic g.91266237C>T g.90556518C>T - - MAP3K7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.590C>T r.(?) p.(Ala197Val) - VUS g.91266236G>A - MAP3K7(NM_145331.2):c.590C>T (p.A197V) - MAP3K7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.616T>G r.(?) p.(Tyr206Asp) - VUS g.91263297A>C g.90553578A>C - - MAP3K7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.634G>A r.(?) p.(Val212Ile) - likely benign g.91263279C>T - MAP3K7(NM_145331.2):c.634G>A (p.(Val212Ile)) - MAP3K7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.731A>G r.(?) p.(His244Arg) - VUS g.91263182T>C g.90553463T>C - - MAP3K7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7i c.737-7A>G r.736_737insuuguag p.Asn245_Gly246insValVal - pathogenic (dominant) g.91261905T>C g.90552186T>C - - MAP3K7_000005 - PubMed: Morlino 2018, Journal: Morlino 2018 - - De novo - - - - - Marco Ritelli
?/. - c.775A>G r.(?) p.(Ile259Val) - VUS g.91261860T>C - MAP3K7(NM_145331.3):c.775A>G (p.(Ile259Val)) - MAP3K7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.794G>A r.(?) p.(Arg265His) - VUS g.91261841C>T - MAP3K7(NM_145331.2):c.794G>A (p.(Arg265His)) - MAP3K7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1100G>A r.(?) p.(Ser367Asn) - VUS g.91257087C>T - MAP3K7(NM_145331.2):c.1100G>A (p.(Ser367Asn)) - MAP3K7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1109C>A r.(?) p.(Ala370Asp) - VUS g.91257078G>T g.90547359G>T MAP3K7(NM_145331.3):c.1109C>A (p.A370D) - MAP3K7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1165A>G r.(?) p.(Ser389Gly) - VUS g.91257022T>C - MAP3K7(NM_145331.3):c.1165A>G (p.(Ser389Gly)) - MAP3K7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1190C>T r.(?) p.(Ala397Val) - VUS g.91256997G>A - MAP3K7(NM_145331.3):c.1190C>T (p.(Ala397Val)) - MAP3K7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1209A>G r.(?) p.(=) - likely benign g.91256978T>C - MAP3K7(NM_145331.2):c.1209A>G (p.(Thr403Thr)) - MAP3K7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1211C>T r.(?) p.(Ala404Val) - likely benign g.91254351G>A - MAP3K7(NM_145331.2):c.1211C>T (p.(Ala404Val)) - MAP3K7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1282G>A r.(?) p.(Val428Ile) - likely benign g.91254280C>T - MAP3K7(NM_145331.2):c.1282G>A (p.V428I) - MAP3K7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1366A>G r.(?) p.(Arg456Gly) - VUS g.91233493T>C - MAP3K7(NM_145331.3):c.1366A>G (p.(Arg456Gly)) - MAP3K7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1469A>G r.(?) p.(Asn490Ser) - likely benign g.91229032T>C - MAP3K7(NM_145331.3):c.1469A>G (p.(Asn490Ser)) - MAP3K7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - - - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - - - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A g.90518552G>A MAP3K7(NM_145331.3):c.1535C>T (p.P512L) - MAP3K7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 16 c.1535C>T r.(?) p.(Pro512Leu) - likely pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - Johan den Dunnen
+/. - c.1535C>T r.(?) p.(Pro512Leu) - pathogenic g.91228271G>A - MAP3K7(NM_145331.3):c.1535C>T (p.P512L) - MAP3K7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1756C>G r.(?) p.(Gln586Glu) - likely benign g.91226285G>C - MAP3K7(NM_145331.2):c.1756C>G (p.(Gln586Glu)) - MAP3K7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1804C>T r.(?) p.(Arg602Ter) - VUS g.91226237G>A g.90516518G>A MAP3K7(NM_145331.3):c.1804C>T (p.R602*) - MAP3K7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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