Unique variants in the ABCA1 gene

Information The variants shown are described using the NM_005502.3 transcript reference sequence.

650 entries on 7 pages. Showing entries 1 - 100.
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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 - c.-93+7699A>G r.(=) p.(=) - benign g.107682517T>C - ABCA1(NM_005502.3):c.-93+7699A>G - ABCA1_000659 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-93+11075A>G r.(=) p.(=) - benign g.107679141T>C - ABCA1(NM_005502.3):c.-93+11075A>G - ABCA1_000658 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-92-362A>G r.(=) p.(=) - benign g.107666414T>C g.104904133T>C ABCA1(NM_005502.3):c.-92-362A>G - ABCA1_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-92-293G>A r.(=) p.(=) - benign g.107666345C>T g.104904064C>T ABCA1(NM_005502.3):c.-92-293G>A - ABCA1_000472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-92-216T>C r.(=) p.(=) - benign g.107666268A>G g.104903987A>G ABCA1(NM_005502.3):c.-92-216T>C - ABCA1_000471 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-76dup r.(?) p.(=) - benign g.107666037dup g.104903756dup ABCA1(NM_005502.3):c.-76dupG - ABCA1_000470 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-35_-18del r.(?) p.(=) - benign g.107665978_107665995del g.104903697_104903714del ABCA1(NM_005502.3):c.-35_-18delCCGAGCCACACGCTGGGG - ABCA1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-18G>C r.(?) p.(=) - benign g.107665978C>G g.104903697C>G ABCA1(NM_005502.3):c.-18G>C - ABCA1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.45C>T r.(?) p.(Leu15=) - benign g.107665916G>A g.104903635G>A ABCA1(NM_005502.3):c.45C>T (p.L15=) - ABCA1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.63A>C r.(?) p.(Gln21His) - likely benign g.107665898T>G g.104903617T>G ABCA1(NM_005502.3):c.63A>C (p.Q21H) - ABCA1_000469 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.66+9G>T r.(=) p.(=) - benign, likely benign g.107665886C>A g.104903605C>A ABCA1(NM_005502.3):c.66+9G>T - ABCA1_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.66+24G>T r.(=) p.(=) - likely benign g.107665871C>A g.104903590C>A ABCA1(NM_005502.3):c.66+24G>T - ABCA1_000547 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.66+144G>A r.(=) p.(=) - benign g.107665751C>T g.104903470C>T ABCA1(NM_005502.3):c.66+144G>A - ABCA1_000467 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.66+156C>T r.(=) p.(=) - benign g.107665739G>A g.104903458G>A ABCA1(NM_005502.3):c.66+156C>T - ABCA1_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.66+384G>A r.(=) p.(=) - benign g.107665511C>T g.104903230C>T ABCA1(NM_005502.3):c.66+384G>A - ABCA1_000465 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.66+5115T>A r.(=) p.(=) - benign g.107660780A>T - ABCA1(NM_005502.3):c.66+5115T>A - ABCA1_000657 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.67-469A>G r.(=) p.(=) - benign g.107651945T>C g.104889664T>C ABCA1(NM_005502.3):c.67-469A>G - ABCA1_000464 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.67-50T>C r.(=) p.(=) - benign g.107651526A>G g.104889245A>G ABCA1(NM_005502.3):c.67-50T>C - ABCA1_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. 1 3 c.92G>T r.(?) p.(Trp31Leu) - - g.107651451C>A g.104889170C>A - - ABCA1_000042 - - - - Unknown - - - - - Gina Peloso
?/. 1 - c.94C>A r.(?) p.(Pro32Thr) - VUS g.107651449G>T g.104889168G>T ABCA1(NM_005502.3):c.94C>A (p.P32T) - ABCA1_000462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.99A>G r.(?) p.(Leu33=) - likely benign g.107651444T>C g.104889163T>C ABCA1(NM_005502.3):c.99A>G (p.L33=) - ABCA1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.103A>G r.(?) p.(Ile35Val) - VUS g.107651440T>C g.104889159T>C ABCA1(NM_005502.3):c.103A>G (p.I35V) - ABCA1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.137A>G r.(?) p.(Tyr46Cys) - likely pathogenic g.107651406T>C - ABCA1(NM_005502.3):c.137A>G (p.Y46C) - ABCA1_000656 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.160+26G>A r.(=) p.(=) - likely benign g.107651357C>T g.104889076C>T ABCA1(NM_005502.3):c.160+26G>A - ABCA1_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.160+171A>G r.(=) p.(=) - benign g.107651212T>C g.104888931T>C ABCA1(NM_005502.3):c.160+171A>G - ABCA1_000460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.160+209A>G r.(=) p.(=) - benign g.107651174T>C g.104888893T>C ABCA1(NM_005502.3):c.160+209A>G - ABCA1_000459 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.160+353C>A r.(=) p.(=) - likely benign g.107651030G>T g.104888749G>T ABCA1(NM_005502.3):c.160+353C>A - ABCA1_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.160+391C>T r.(=) p.(=) - likely benign g.107650992G>A g.104888711G>A ABCA1(NM_005502.3):c.160+391C>T - ABCA1_000544 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.160+540G>A r.(=) p.(=) - benign g.107650843C>T g.104888562C>T ABCA1(NM_005502.3):c.160+540G>A - ABCA1_000543 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.160+2103G>T r.(=) p.(=) - likely benign g.107649280C>A - ABCA1(NM_005502.3):c.160+2103G>T - ABCA1_000655 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.161-371G>A r.(=) p.(=) - benign g.107647220C>T g.104884939C>T ABCA1(NM_005502.3):c.161-371G>A - ABCA1_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.161-272T>C r.(=) p.(=) - benign g.107647121A>G g.104884840A>G ABCA1(NM_005502.3):c.161-272T>C - ABCA1_000457 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.161-257G>A r.(=) p.(=) - benign g.107647106C>T - ABCA1(NM_005502.3):c.161-257G>A - ABCA1_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.161-228C>T r.(=) p.(=) - benign g.107647077G>A g.104884796G>A ABCA1(NM_005502.3):c.161-228C>T - ABCA1_000456 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.161-170G>A r.(=) p.(=) - VUS g.107647019C>T g.104884738C>T ABCA1(NM_005502.3):c.161-170G>A - ABCA1_000455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.188C>G r.(?) p.(Ser63Cys) - likely pathogenic g.107646822G>C g.104884541G>C ABCA1(NM_005502.3):c.188C>G (p.S63C) - ABCA1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.207G>A r.(?) p.(Trp69Ter) - likely pathogenic g.107646803C>T g.104884522C>T ABCA1(NM_005502.3):c.207G>A (p.W69*) - ABCA1_000454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.234C>T r.(?) p.(Asn78=) - likely benign g.107646776G>A - ABCA1(NM_005502.3):c.234C>T (p.N78=) - ABCA1_000591 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.248G>A r.(?) p.(Arg83His) - VUS g.107646762C>T g.104884481C>T ABCA1(NM_005502.3):c.248G>A (p.R83H) - ABCA1_000453 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./., ?/. 4 4 c.254C>T r.(?) p.(Pro85Leu) - VUS g.107646756G>A g.104884475G>A ABCA1(NM_005502.3):c.254C>T (p.P85L) - ABCA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Gina Peloso, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.255G>A r.(?) p.(Pro85=) - likely benign g.107646755C>T g.104884474C>T ABCA1(NM_005502.3):c.255G>A (p.P85=) - ABCA1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.299C>G r.(?) p.(Ser100Cys) - VUS g.107646711G>C g.104884430G>C ABCA1(NM_005502.3):c.299C>G (p.S100C) - ABCA1_000542 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.302+6T>C r.(=) p.(=) - likely pathogenic g.107646702A>G g.104884421A>G ABCA1(NM_005502.3):c.302+6T>C - ABCA1_000452 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.302+64C>T r.(=) p.(=) - likely benign g.107646644G>A g.104884363G>A ABCA1(NM_005502.3):c.302+64C>T - ABCA1_000567 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.302+419G>A r.(=) p.(=) - benign g.107646289C>T g.104884008C>T ABCA1(NM_005502.3):c.302+419G>A - ABCA1_000451 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.302+448A>G r.(=) p.(=) - benign g.107646260T>C g.104883979T>C ABCA1(NM_005502.3):c.302+448A>G - ABCA1_000450 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.303-484A>G r.(=) p.(=) - likely benign g.107645922T>C - ABCA1(NM_005502.3):c.303-484A>G - ABCA1_000590 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.303-236A>G r.(=) p.(=) - benign g.107645674T>C g.104883393T>C ABCA1(NM_005502.3):c.303-236A>G - ABCA1_000449 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. 1 5 c.362G>C r.(?) p.(Ser121Thr) - - g.107645379C>G g.104883098C>G - - ABCA1_000040 - - - - Unknown - - - - - Gina Peloso
./. 1 5 c.400C>G r.(?) p.(Gln134Glu) - - g.107645341G>C g.104883060G>C - - ABCA1_000039 - - - - Unknown - - - - - Gina Peloso
?/. 1 - c.421A>G r.(?) p.(Asn141Asp) - VUS g.107645320T>C g.104883039T>C ABCA1(NM_005502.3):c.421A>G (p.N141D) - ABCA1_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.421+76T>G r.(=) p.(=) - benign g.107645244A>C - ABCA1(NM_005502.3):c.421+76T>G - ABCA1_000653 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.421+240G>A r.(=) p.(=) - benign g.107645080C>T g.104882799C>T ABCA1(NM_005502.3):c.421+240G>A - ABCA1_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.422-472_422-471del r.(=) p.(=) - likely benign g.107624563_107624564del - ABCA1(NM_005502.3):c.422-472_422-471delAA - ABCA1_000652 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-308A>G r.(=) p.(=) - benign g.107624389T>C g.104862108T>C ABCA1(NM_005502.3):c.422-308A>G - ABCA1_000446 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-304dup r.(=) p.(=) - benign g.107624397dup - ABCA1(NM_005502.3):c.422-304dupA - ABCA1_000651 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-302A>G r.(=) p.(=) - benign g.107624383T>C g.104862102T>C ABCA1(NM_005502.3):c.422-302A>G - ABCA1_000445 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-277_422-272del r.(=) p.(=) - benign g.107624358_107624363del g.104862077_104862082del ABCA1(NM_005502.3):c.422-277_422-272delATGTGT - ABCA1_000540 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.422-277_422-270del r.(=) p.(=) - likely benign g.107624358_107624365del g.104862077_104862084del ABCA1(NM_005502.3):c.422-277_422-270delATGTGTGT - ABCA1_000541 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-255_422-250dup r.(=) p.(=) - benign g.107624352_107624357dup g.104862071_104862076dup ABCA1(NM_005502.3):c.422-255_422-250dupGTGTGT - ABCA1_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-251_422-250del r.(=) p.(=) - benign g.107624356_107624357del g.104862075_104862076del ABCA1(NM_005502.3):c.422-251_422-250delGT - ABCA1_000443 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.422-251_422-250dup r.(=) p.(=) - likely benign g.107624356_107624357dup g.104862075_104862076dup ABCA1(NM_005502.3):c.422-251_422-250dupGT - ABCA1_000444 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-161T>C r.(=) p.(=) - benign g.107624242A>G g.104861961A>G ABCA1(NM_005502.3):c.422-161T>C - ABCA1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-128G>A r.(=) p.(=) - benign g.107624209C>T g.104861928C>T ABCA1(NM_005502.3):c.422-128G>A - ABCA1_000441 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-44_422-43del r.(=) p.(=) - benign g.107624137_107624138del - ABCA1(NM_005502.3):c.422-44_422-43delTT - ABCA1_000650 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-43del r.(=) p.(=) - benign g.107624138del g.104861857del ABCA1(NM_005502.3):c.422-43delT - ABCA1_000439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-43dup r.(=) p.(=) - benign g.107624138dup g.104861857dup ABCA1(NM_005502.3):c.422-43dupT - ABCA1_000440 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.422-16C>T r.(=) p.(=) - likely benign g.107624097G>A g.104861816G>A ABCA1(NM_005502.3):c.422-16C>T - ABCA1_000438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-14C>G r.(=) p.(=) - benign g.107624095G>C g.104861814G>C ABCA1(NM_005502.3):c.422-14C>G - ABCA1_000437 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.422-14C>T r.(=) p.(=) - likely benign g.107624095G>A - ABCA1(NM_005502.3):c.422-14C>T - ABCA1_000608 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.422-12A>G r.(=) p.(=) - benign g.107624093T>C g.104861812T>C ABCA1(NM_005502.3):c.422-12A>G - ABCA1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.446T>G r.(?) p.(Val149Gly) - likely benign g.107624057A>C g.104861776A>C ABCA1(NM_005502.3):c.446T>G (p.V149G) - ABCA1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./., ?/. 2 6 c.467G>T r.(?) p.(Gly156Val) - VUS g.107624036C>A g.104861755C>A ABCA1(NM_005502.3):c.467G>T (p.G156V) - ABCA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Gina Peloso, VKGL-NL_AMC
-/. 1 - c.474G>A r.(?) p.(Leu158=) - benign g.107624029C>T g.104861748C>T ABCA1(NM_005502.3):c.474G>A (p.L158=) - ABCA1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.496A>G r.(?) p.(Lys166Glu) - likely benign g.107624007T>C g.104861726T>C ABCA1(NM_005502.3):c.496A>G (p.K166E) - ABCA1_000538 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. 1 6 c.497A>G r.(?) p.(Lys166Arg) - - g.107624006T>C g.104861725T>C - - ABCA1_000037 - - - - Unknown - - - - - Gina Peloso
-/. 1 - c.543+210A>C r.(=) p.(=) - benign g.107623750T>G g.104861469T>G ABCA1(NM_005502.3):c.543+210A>C - ABCA1_000436 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.543+334G>A r.(=) p.(=) - benign g.107623626C>T g.104861345C>T ABCA1(NM_005502.3):c.543+334G>A - ABCA1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.543+390C>A r.(=) p.(=) - benign g.107623570G>T g.104861289G>T ABCA1(NM_005502.3):c.543+390C>A - ABCA1_000434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.543+1462T>G r.(=) p.(=) - benign g.107622498A>C - ABCA1(NM_005502.3):c.543+1462T>G - ABCA1_000649 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.543+1477T>C r.(=) p.(=) - benign g.107622483A>G - ABCA1(NM_005502.3):c.543+1477T>C - ABCA1_000648 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.544-161T>G r.(=) p.(=) - benign g.107621140A>C g.104858859A>C ABCA1(NM_005502.3):c.544-161T>G - ABCA1_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.544-6T>C r.(=) p.(=) - likely benign g.107620985A>G - ABCA1(NM_005502.3):c.544-6T>C - ABCA1_000607 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.603A>T r.(?) p.(Glu201Asp) - likely benign g.107620920T>A g.104858639T>A ABCA1(NM_005502.3):c.603A>T (p.E201D) - ABCA1_000537 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.634T>A r.(?) p.(Ser212Thr) - benign g.107620889A>T g.104858608A>T ABCA1(NM_005502.3):c.634T>A (p.S212T) - ABCA1_000432 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.651A>G r.(?) p.(Leu217=) - benign g.107620872T>C g.104858591T>C ABCA1(NM_005502.3):c.651A>G (p.L217=) - ABCA1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.656G>A r.(?) p.(Arg219Lys) - benign g.107620867C>T g.104858586C>T ABCA1(NM_005502.3):c.656G>A (p.R219K) - ABCA1_000431 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.671C>T r.(?) p.(Ala224Val) - VUS g.107620852G>A g.104858571G>A ABCA1(NM_005502.3):c.671C>T (p.A224V) - ABCA1_000430 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.679C>T r.(?) p.(Arg227Ter) - likely pathogenic g.107620844G>A - ABCA1(NM_005502.3):c.679C>T (p.R227*) - ABCA1_000606 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.688C>T r.(?) p.(Arg230Cys) - benign, likely benign g.107620835G>A g.104858554G>A ABCA1(NM_005502.3):c.688C>T (p.R230C) - ABCA1_000429 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs9282541 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+?/. 1 - c.689G>A r.(?) p.(Arg230His) - likely pathogenic g.107620834C>T g.104858553C>T ABCA1(NM_005502.3):c.689G>A (p.R230H) - ABCA1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.715A>G r.(?) p.(Ile239Val) - likely benign g.107620808T>C g.104858527T>C ABCA1(NM_005502.3):c.715A>G (p.I239V) - ABCA1_000428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.720+6T>C r.(=) p.(=) - benign, likely benign g.107620797A>G g.104858516A>G ABCA1(NM_005502.3):c.720+6T>C - ABCA1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.720+12T>C r.(=) p.(=) - benign g.107620791A>G g.104858510A>G ABCA1(NM_005502.3):c.720+12T>C - ABCA1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.720+207C>T r.(=) p.(=) - likely benign g.107620596G>A g.104858315G>A ABCA1(NM_005502.3):c.720+207C>T - ABCA1_000566 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.720+345del r.(=) p.(=) - likely benign g.107620468del g.104858187del ABCA1(NM_005502.3):c.720+345delA - ABCA1_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.720+416G>A r.(=) p.(=) - benign g.107620387C>T g.104858106C>T ABCA1(NM_005502.3):c.720+416G>A - ABCA1_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.720+457C>A r.(=) p.(=) - likely benign g.107620346G>T - ABCA1(NM_005502.3):c.720+457C>A - ABCA1_000647 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.720+471C>T r.(=) p.(=) - benign g.107620332G>A g.104858051G>A ABCA1(NM_005502.3):c.720+471C>T - ABCA1_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.720+504G>A r.(=) p.(=) - benign g.107620299C>T - ABCA1(NM_005502.3):c.720+504G>A - ABCA1_000646 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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