Unique variants in gene JAM3

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

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 1 c.2T>G r.(?) p.0? - - g.133938980T>G g.134069085T>G - - JAM3_000001 - - - - Germline yes - - - - Nadia Nakawi
?/. 1 - c.76+5G>T r.spl? p.? - VUS g.133939059G>T g.134069164G>T JAM3(NM_032801.4):c.76+5G>T - JAM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.256+57A>G r.(=) p.(=) - benign g.134010722A>G g.134140827A>G JAM3(NM_032801.4):c.256+57A>G - JAM3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.285G>A r.(?) p.(Leu95=) - benign g.134014164G>A g.134144269G>A JAM3(NM_032801.4):c.285G>A (p.L95=) - JAM3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/?, +?/. 2 4 c.346G>A r.(?) p.(Glu116Lys) - likely pathogenic g.134014225G>A g.134144330G>A - - JAM3_000002 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record yes - - - - Nadia Nakawi, VKGL-NL_Nijmegen
-/., -?/. 2 - c.410-14_410-13insCT r.(=) p.(=) - benign, likely benign g.134014673_134014674insCT g.134144778_134144779insCT JAM3(NM_032801.4):c.410-14_410-13insCT - JAM3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.410-14_410-13insCTT r.(=) p.(=) - benign g.134014673_134014674insCTT g.134144778_134144779insCTT JAM3(NM_032801.4):c.410-14_410-13insCTT - JAM3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 5i c.612+1G>T r.612_613ins612+1_612+19{612+1g>t} p.Val205Leufs26* - - g.134014890G>T g.134144995G>T c.747+1G>T - JAM3_000004 - PubMed: Mochida 2010 - - Germline yes - - - - Nadia Nakawi
-?/. 1 - c.613-12T>A r.(=) p.(=) - likely benign g.134015829T>A g.134145934T>A JAM3(NM_032801.4):c.613-12T>A - JAM3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 6 c.656G>A r.(?) p.(Cys219Tyr) - - g.134015884G>A g.134145989G>A - - JAM3_000003 affects protein traficking - - - Germline yes - - - - Nadia Nakawi
?/. 1 - c.824A>G r.(?) p.(Asn275Ser) - VUS g.134018553A>G g.134148658A>G JAM3(NM_001205329.1):c.671A>G (p.(Asn224Ser)) - JAM3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.843-3T>C r.spl? p.? - benign g.134018656T>C g.134148761T>C JAM3(NM_032801.4):c.843-3T>C - JAM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 - c.896_897+1del r.spl? p.? - VUS g.134018712_134018714del g.134148817_134148819del JAM3(NM_032801.4):c.895_897delGAG (p.E299del) - JAM3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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