All variants in the ABCA2 gene

Information The variants shown are described using the NM_212533.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-2275C>T r.(?) p.(=) - likely benign g.139925599G>A g.137031147G>A FUT7(NM_004479.3):c.592C>T (p.(Arg198Trp)) - ABCA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-1897T>C r.(?) p.(=) - likely benign g.139925221A>G g.137030769A>G FUT7(NM_004479.3):c.970T>C (p.(Tyr324His)) - ABCA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.334G>C r.(?) p.(Glu112Gln) - VUS g.139917424C>G - ABCA2(NM_212533.2):c.334G>C (p.E112Q) - C9orf139_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.641G>A r.(?) p.(Arg214His) - VUS g.139916819C>T - ABCA2(NM_212533.2):c.641G>A (p.R214H) - C9orf139_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.740dup r.(?) p.(Gly248Argfs*38) ACMG likely pathogenic (recessive) g.139916371dup g.137021919dup c.740dupT - ABCA2_000002 ACMG PVS1, PM2 PubMed: Maddirevula 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.768+6G>A r.(=) p.(=) - VUS g.139916337C>T g.137021885C>T ABCA2(NM_001606.4):c.678+6G>A (p.(=)) - ABCA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.792C>T r.(?) p.(Leu264=) - likely benign g.139916039G>A g.137021587G>A ABCA2(NM_001606.5):c.702C>T (p.L234=) - ABCA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.1027C>T r.(?) p.(Gln343*) ACMG likely pathogenic (recessive) g.139915474G>A g.137021022G>A - - ABCA2_000001 ACMG PVS1, PM2 PubMed: Maddirevula 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1161C>T r.(?) p.(Pro387=) - likely benign g.139915340G>A - ABCA2(NM_212533.2):c.1161C>T (p.P387=) - C9orf139_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1410G>A r.(?) p.(Thr470=) - likely benign g.139914893C>T g.137020441C>T ABCA2(NM_212533.2):c.1410G>A (p.T470=) - ABCA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1645-8A>G r.(=) p.(=) - VUS g.139913530T>C g.137019078T>C ABCA2(NM_001606.4):c.1555-8A>G (p.(=)) - ABCA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3013+3G>A r.spl? p.? - likely benign g.139911023C>T - ABCA2(NM_212533.2):c.3013+3G>A - C9orf139_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3504C>T r.(?) p.(Phe1168=) - likely benign g.139910227G>A g.137015775G>A ABCA2(NM_001606.5):c.3414C>T (p.F1138=) - ABCA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3564G>A r.(?) p.(Ala1188=) - likely benign g.139910167C>T - ABCA2(NM_212533.2):c.3564G>A (p.A1188=) - C9orf139_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3840C>T r.(?) p.(Ser1280=) - likely benign g.139909497G>A g.137015045G>A ABCA2(NM_001606.5):c.3750C>T (p.S1250=) - ABCA2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4537+4G>A r.spl? p.? - likely benign g.139908280C>T - ABCA2(NM_212533.2):c.4537+4G>A - C9orf139_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4584C>T r.(?) p.(Tyr1528=) - likely benign g.139907969G>A g.137013517G>A ABCA2(NM_001606.5):c.4494C>T (p.Y1498=) - ABCA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.4627_4637delinsG r.(?) p.(Arg1543AlafsTer15) - likely pathogenic (recessive) g.139907916_139907926delinsC g.137013464_137013474delinsC NM_001606:c.4537_4547delinsG - ABCA2_000020 novel candidate disease gene PubMed: Hu 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.4632C>T r.(?) p.(Arg1544=) - VUS g.139907921G>A - ABCA2(NM_212533.2):c.4632C>T (p.R1544=) - C9orf139_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4719C>T r.(?) p.(Cys1573=) - likely benign g.139907692G>A g.137013240G>A ABCA2(NM_001606.5):c.4629C>T (p.C1543=) - ABCA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5224G>A r.(?) p.(Gly1742Ser) - VUS g.139906990C>T g.137012538C>T ABCA2(NM_001606.4):c.5134G>A (p.(Gly1712Ser)), ABCA2(NM_001606.5):c.5134G>A (p.G1712S) - ABCA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.5224G>A r.(?) p.(Gly1742Ser) - VUS g.139906990C>T g.137012538C>T ABCA2(NM_001606.4):c.5134G>A (p.(Gly1712Ser)), ABCA2(NM_001606.5):c.5134G>A (p.G1712S) - ABCA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.5233G>T r.(?) p.(Ala1745Ser) - likely benign g.139906981C>A g.137012529C>A ABCA2(NM_212533.2):c.5233G>T (p.A1745S) - ABCA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5742-10C>T r.(=) p.(=) - likely benign g.139906016G>A - ABCA2(NM_212533.2):c.5742-10C>T - C9orf139_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5898G>A r.(?) p.(Lys1966=) - likely benign g.139905753C>T - ABCA2(NM_212533.2):c.5898G>A (p.K1966=) - C9orf139_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5956C>T r.(?) p.(His1986Tyr) - VUS g.139905695G>A g.137011243G>A ABCA2(NM_001606.5):c.5866C>T (p.H1956Y) - ABCA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.6043G>A r.(?) p.(Glu2015Lys) - VUS g.139905528C>T - ABCA2(NM_212533.2):c.6043G>A (p.E2015K) - C9orf139_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6080C>T r.(?) p.(Ala2027Val) - likely benign g.139905491G>A g.137011039G>A ABCA2(NM_001606.5):c.5990C>T (p.A1997V) - ABCA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.6169C>G r.(?) p.(Pro2057Ala) - VUS g.139905167G>C g.137010715G>C ABCA2(NM_212533.2):c.6169C>G (p.P2057A) - ABCA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6639G>A r.(?) p.(Pro2213=) - likely benign g.139904302C>T - ABCA2(NM_212533.2):c.6639G>A (p.P2213=) - C9orf139_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7011C>G r.(?) p.(Ala2337=) - likely benign g.139903412G>C g.137008960G>C ABCA2(NM_001606.5):c.6921C>G (p.A2307=) - ABCA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7265G>A r.(?) p.(Arg2422Gln) - VUS g.139902968C>T g.137008516C>T ABCA2(NM_212533.2):c.7265G>A (p.R2422Q) - ABCA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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