All variants in the MAX gene

Information The variants shown are described using the NM_002382.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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     
+?/+? 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.65569057T>C g.65102339T>C Met1? - MAX_000003 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
+?/+? 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.65569057T>C g.65102339T>C Met1? - MAX_000003 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
?/. - c.1A>G r.(?) p.(Met1?) - pathogenic g.65569057T>C g.65102339T>C - - MAX_000003 - - - - Germline - - - - - James Whitworth
-?/. - c.36+11G>C r.(=) p.(=) - likely benign g.65569011C>G g.65102293C>G MAX(NM_002382.5):c.36+11G>C, MAX(NM_145113.3):c.36+11G>C - MAX_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.36+11G>C r.(=) p.(=) - likely benign g.65569011C>G g.65102293C>G MAX(NM_002382.5):c.36+11G>C, MAX(NM_145113.3):c.36+11G>C - MAX_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.37-16T>C r.(=) p.(=) - likely benign g.65568306A>G g.65101588A>G MAX(NM_002382.5):c.37-16T>C - MAX_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.37-15del r.(=) p.(=) - likely benign g.65568315del g.65101597del MAX(NM_002382.5):c.37-15delT, MAX(NM_145113.3):c.37-15delT - MAX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.37-15del r.(=) p.(=) - benign g.65568315del - MAX(NM_002382.5):c.37-15delT, MAX(NM_145113.3):c.37-15delT - MAX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. - c.37-15dup r.(=) p.(=) - likely benign g.65568315dup g.65101597dup MAX(NM_002382.5):c.37-15dupT - CHURC1-FNTB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+? 3 c.67G>A r.(?) p.(Asp23Asn) - likely pathogenic g.65560530C>T g.65093812C>T - - MAX_000006 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
+?/+? 3 c.97C>T r.(?) p.(Arg33*) - likely pathogenic g.65560500G>A g.65093782G>A - - MAX_000004 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
-?/. - c.172-6230G>A r.(=) p.(=) - likely benign g.65550984C>T - MAX(NM_145114.2):c.205G>A (p.V69I) - CHURC1-FNTB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
+?/. 3i_5_ c.(171+1_172-1)_(482_?)del r.? p.? ACMG pathogenic g.(?_65543195)_(65544755_65560425)del - - - MAX_000017 Genomic deletion estimated after MLPA analysis (probes MAX.4, MAX.4 intr, MAX5) - - - Germline ? - - - - Luigi Mori
+/. - c.179G>A r.(?) p.(Arg60Gln) - pathogenic (dominant) g.65544747C>T g.65078029C>T - - MAX_000009 - PubMed: Harris 2024, Journal: Harris 2024 - - De novo - - - - - Johan den Dunnen
+/. - c.179G>A r.(?) p.(Arg60Gln) - pathogenic (dominant) g.65544747C>T g.65078029C>T - - MAX_000009 - PubMed: Harris 2024, Journal: Harris 2024 - - De novo - - - - - Johan den Dunnen
+/. - c.179G>A r.(?) p.(Arg60Gln) - pathogenic (dominant) g.65544747C>T g.65078029C>T - - MAX_000009 - PubMed: Harris 2024, Journal: Harris 2024 - - De novo - - - - - Johan den Dunnen
+?/. - c.179G>A r.(?) p.(Arg60Gln) - likely pathogenic g.65544747C>T - - - MAX_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 4 c.179G>A r.(?) p.Arg60Gln ACMG pathogenic (dominant) g.65544747C>T g.65078029C>T - - MAX_000009 - - - - Germline - - - - - Juliana Mazzeu
+?/+? 4 c.187del r.(?) p.(Ile63Serfs*2) - likely pathogenic g.65544741del g.65078023del 185_186delA (Gln62AsnfsX23) - MAX_000005 corrected to c.187del, p.(Ile63Serfs*2) (pers. comm.) PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
?/. - c.220A>G r.(?) p.(Met74Val) - VUS g.65544706T>C g.65077988T>C - - CHURC1-FNTB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.220A>G r.(?) p.(Met74Val) ACMG VUS g.65544706T>C - - - CHURC1-FNTB_000001 - - - - Germline - - - - - Richarda de Voer
+?/+? 4 c.223C>T r.(?) p.(Arg75*) - likely pathogenic g.65544703G>A g.65077985G>A - - MAX_000001 2nd hit tumor UPD, exclusive paternal MEG3 allele detection PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
+?/+? 4 c.223C>T r.(?) p.(Arg75*) - likely pathogenic g.65544703G>A g.65077985G>A - - MAX_000001 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
+?/+? 4 c.223C>T r.(?) p.(Arg75*) - likely pathogenic g.65544703G>A g.65077985G>A - - MAX_000001 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
+?/+? 4 c.223C>T r.(?) p.(Arg75*) - likely pathogenic g.65544703G>A g.65077985G>A - - MAX_000001 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
+?/. - c.242_243dup r.(?) p.(Gln82Thrfs*89) ACMG likely pathogenic g.65544683dup - - - MAX_000016 ACMG grading: PVS1,PM2; brother also affected Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - Andreas Laner
+?/+? 4 c.281T>C r.(?) p.(Leu94Pro) - likely pathogenic g.65544645A>G g.65077927A>G - - MAX_000008 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
+/. - c.289C>T r.(?) p.(Gln97Ter) - pathogenic (dominant) g.65544637G>A g.65077919G>A - - MAX_000018 - PubMed: Kim 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/+? 4i c.295+1G>A r.172_295del p.Ala58Serfs*71 - likely pathogenic g.65544630C>T g.65077912C>T - - MAX_000002 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
+/. - c.295+1G>A r.spl? p.? - pathogenic g.65544630C>T g.65077912C>T MAX(NM_145113.3):c.295+1G>A - MAX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.295+16C>T r.(=) p.(=) - likely benign g.65544615G>A - MAX(NM_002382.5):c.295+16C>T - CHURC1-FNTB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.295+17G>A r.(=) p.(=) - likely benign g.65544614C>T - MAX(NM_145113.3):c.295+17G>A - CHURC1-FNTB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. - c.406G>A r.(?) p.(Gly136Arg) - VUS g.65543271C>T g.65076553C>T - - MAX_000015 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140490467 Germline - 2/2795 individuals - - - Mohammed Faruq
+?/+? 5 c.425C>T r.(?) p.(Ser142Leu) - likely pathogenic g.65543252G>A g.65076534G>A - - MAX_000007 - PubMed: Comino-Méndez 2011 - - Germline - - - - - Alberto Cascon
?/. - c.466C>T r.(?) p.(Arg156Trp) - VUS g.65543211G>A - MAX(NM_002382.4):c.466C>T (p.(Arg156Trp)) - CHURC1-FNTB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*7C>T r.(=) p.(=) - likely benign g.65543187G>A g.65076469G>A MAX(NM_001320415.1):c.*7C>T (p.(=)) - MAX_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*7C>T r.(=) p.(=) - likely benign g.65543187G>A - MAX(NM_001320415.1):c.*7C>T (p.(=)) - MAX_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*128T>A r.(?) p.(?) - likely benign g.65543066A>T - - - MAX_000019 - - - rs539193441 Unknown - - - - - MobiDetails
?/. - c.*15217G>A r.(=) p.(=) - VUS g.65527977C>T - CHURC1-FNTB(NM_001202559.1):c.1444C>T (p.P482S), FNTB(NM_002028.4):c.1261C>T (p.P421S) - CHURC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*35620G>A r.(=) p.(=) - likely benign g.65507574C>T - - - CHURC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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