All variants in the CARD9 gene

Information The variants shown are described using the NM_052813.4 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-4372C>T r.(?) p.(=) - likely benign g.139272339G>A g.136377887G>A SNAPC4(NM_003086.3):c.3940C>T (p.L1314=) - CARD9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.9C>A r.(?) p.(Asp3Glu) - likely benign g.139266522G>T g.136372070G>T CARD9(NM_052813.4):c.9C>A (p.D3E) - CARD9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.12C>T r.(?) p.(Tyr4=) - likely benign g.139266519G>A g.136372067G>A CARD9(NM_052813.4):c.12C>T (p.Y4=) - CARD9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.12C>T r.(?) p.(Tyr4=) - likely benign g.139266519G>A g.136372067G>A CARD9(NM_052813.4):c.12C>T (p.Y4=) - CARD9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.24C>T r.(?) p.(Asp8=) - likely benign g.139266507G>A - CARD9(NM_052813.4):c.24C>T (p.D8=) - CARD9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.35G>A r.(?) p.(Ser12Asn) - benign g.139266496C>T g.136372044C>T CARD9(NM_052814.4):c.35G>A (p.S12N) - CARD9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.126C>T r.(?) p.(Pro42=) - benign g.139266405G>A g.136371953G>A CARD9(NM_052814.4):c.126C>T (p.P42=) - CARD9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.135G>A r.(?) p.(Glu45=) - likely benign g.139266396C>T g.136371944C>T CARD9(NM_052813.4):c.135G>A (p.E45=) - CARD9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.228C>T r.(?) p.(Tyr76=) - benign g.139265870G>A g.136371418G>A CARD9(NM_052814.4):c.228C>T (p.Y76=) - CARD9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.268C>T r.(?) p.(Leu90=) - likely benign g.139265830G>A - CARD9(NM_052813.4):c.268C>T (p.L90=) - CARD9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.288C>A r.(?) p.(Gly96=) - likely benign g.139265810G>T g.136371358G>T CARD9(NM_052813.4):c.288C>A (p.G96=) - CARD9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.288C>A r.(?) p.(Gly96=) - likely benign g.139265810G>T - CARD9(NM_052813.4):c.288C>A (p.G96=) - CARD9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.297G>A r.(?) p.(Pro99=) - likely benign g.139265801C>T g.136371349C>T CARD9(NM_052813.4):c.297G>A (p.P99=) - CARD9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.324C>T r.(=) p.(=) - VUS g.139265596G>A g.136371144G>A - - CARD9_000027 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34971035 Germline - 3/2793 individuals - - - Mohammed Faruq
-?/. - c.330C>T r.(?) p.(Ser110=) - likely benign g.139265590G>A - CARD9(NM_052813.4):c.330C>T (p.S110=) - CARD9_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.406C>T r.(?) p.(Leu136=) - likely benign g.139265514G>A g.136371062G>A CARD9(NM_052813.4):c.406C>T (p.L136=) - CARD9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.490C>T r.(?) p.(Leu164Phe) - VUS g.139265430G>A g.136370978G>A CARD9(NM_052813.4):c.490C>T (p.L164F) - CARD9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.511G>A r.(?) p.(Gly171Ser) - likely benign g.139265409C>T - CARD9(NM_052813.4):c.511G>A (p.G171S) - CARD9_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.513C>T r.(?) p.(Gly171=) - VUS g.139265407G>A g.136370955G>A CARD9(NM_052813.4):c.513C>T (p.G171=) - CARD9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.513C>T r.(?) p.(Gly171=) - benign g.139265407G>A - CARD9(NM_052813.4):c.513C>T (p.G171=) - CARD9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.515G>A r.(?) p.(Ser172Asn) - likely benign g.139265405C>T - CARD9(NM_052813.4):c.515G>A (p.S172N) - CARD9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.550G>A r.(?) p.(Asp184Asn) - likely benign g.139265370C>T - CARD9(NM_052813.4):c.550G>A (p.D184N) - CARD9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.586A>G r.(?) p.(Lys196Glu) - VUS g.139265334T>C g.136370882T>C CARD9(NM_052813.4):c.586A>G (p.K196E) - CARD9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.637C>T r.(?) p.(Leu213Phe) - VUS g.139265144G>A g.136370692G>A CARD9(NM_052813.4):c.637C>T (p.L213F) - CARD9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.638T>G r.(?) p.(Leu213Arg) - VUS g.139265143A>C - CARD9(NM_052813.4):c.638T>G (p.L213R) - CARD9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.639C>G r.(?) p.(Leu213=) - VUS g.139265142G>C - CARD9(NM_052813.4):c.639C>G (p.L213=) - CARD9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.683G>A r.(?) p.(Arg228His) - VUS g.139265098C>T g.136370646C>T CARD9(NM_052813.4):c.683G>A (p.R228H) - CARD9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.693G>A r.(?) p.(Thr231=) - benign g.139265088C>T g.136370636C>T CARD9(NM_052814.4):c.693G>A (p.T231=) - CARD9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.757_759del r.(?) p.(Glu253del) - VUS g.139265024_139265026del g.136370572_136370574del CARD9(NM_052813.5):c.757_759delGAG (p.E253del) - CARD9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.768dup r.(?) p.(Leu257Alafs*78) - likely pathogenic g.139265013dup - CARD9(NM_052813.4):c.768dupG (p.L257Afs*78) - CARD9_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.807+8C>T r.(=) p.(=) - likely benign g.139264966G>A - CARD9(NM_052813.4):c.807+8C>T - CARD9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.808-9C>A r.(=) p.(=) - likely benign g.139264898G>T g.136370446G>T CARD9(NM_052813.4):c.808-9C>A - CARD9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.808-9C>A r.(=) p.(=) - likely benign g.139264898G>T - CARD9(NM_052813.4):c.808-9C>A - CARD9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.809A>T r.(?) p.(Glu270Val) - VUS g.139264888T>A g.136370436T>A CARD9(NM_052813.4):c.809A>T (p.E270V) - CARD9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.809A>T r.(?) p.(Glu270Val) - likely benign g.139264888T>A g.136370436T>A CARD9(NM_052813.4):c.809A>T (p.E270V) - CARD9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.809A>T r.(?) p.(Glu270Val) - likely benign g.139264888T>A g.136370436T>A CARD9(NM_052813.4):c.809A>T (p.E270V) - CARD9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.874C>T r.(?) p.(Arg292Trp) - VUS g.139264823G>A g.136370371G>A CARD9(NM_052813.4):c.874C>T (p.R292W) - CARD9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.894C>G r.(?) p.(Ala298=) - likely benign g.139264803G>C g.136370351G>C CARD9(NM_052813.4):c.894C>G (p.A298=) - CARD9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.952-12C>T r.(=) p.(=) - likely benign g.139264339G>A g.136369887G>A CARD9(NM_052813.4):c.952-12C>T - CARD9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1153G>C r.(?) p.(Val385Leu) - benign g.139262205C>G g.136367753C>G CARD9(NM_052814.4):c.1153G>C (p.V385L) - CARD9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1244G>A r.(?) p.(Arg415Gln) - likely benign g.139262114C>T - CARD9(NM_052813.4):c.1244G>A (p.R415Q) - CARD9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1357+16C>T r.(=) p.(=) - likely benign g.139261236G>A - CARD9(NM_052813.4):c.1357+16C>T - CARD9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1358G>A r.(?) p.(Gly453Asp) - VUS g.139259669C>T - CARD9(NM_052813.4):c.1358G>A (p.G453D) - CARD9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1434T>C r.(?) p.(His478=) - likely benign g.139259593A>G g.136365141A>G CARD9(NM_052813.4):c.1434T>C (p.H478=) - CARD9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1434+1G>C r.spl? p.? - VUS g.139259592C>G g.136365140C>G CARD9(NM_052813.4):c.1434+1G>C, CARD9(NM_052813.5):c.1434+1G>C - CARD9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1434+1G>C r.spl? p.? - VUS g.139259592C>G g.136365140C>G CARD9(NM_052813.4):c.1434+1G>C, CARD9(NM_052813.5):c.1434+1G>C - CARD9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1434+1G>C r.spl? p.? - VUS g.139259592C>G g.136365140C>G CARD9(NM_052813.4):c.1434+1G>C, CARD9(NM_052813.5):c.1434+1G>C - CARD9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1567G>C r.(?) p.(Glu523Gln) - likely benign g.139258798C>G - CARD9(NM_052813.4):c.1567G>C (p.E523Q) - CARD9_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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