Full data view for gene APOB

Information The variants shown are described using the NM_000384.2 transcript reference sequence.

896 entries on 9 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? _1 c.-644C>T VUS r.(?) p.(?) Unknown g.21267461G>A - - - APOB_000031 - {dbSNP934197} - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 -
?/? _1 c.-644C>T VUS r.(?) p.(?) Unknown g.21267461G>A - c.-516C>T - APOB_000165 - PubMed: van't Hooft 1999, PubMed: Sposito 2004, {dbSNP934197} - - Unknown - 0.30 controls - 0 - DNA PCRdig - - ? - - - - - - - - 0 - - 1 Amanda Hooper
-/. - c.-393T>C benign r.(?) p.(=) Unknown g.21267210A>G - APOB(NM_000384.2):c.-393T>C - APOB_000799 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-11C>G benign r.(?) p.(=) Unknown g.21266828G>C - APOB(NM_000384.2):c.-11C>G - APOB_000487 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.18_25del pathogenic r.(?) p.(Ala7Glyfs*48) Unknown g.21266794_21266801del - APOB(NM_000384.2):c.18_25delCGCGCTGC (p.A7Gfs*48) - APOB_000486 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.28del pathogenic r.(?) p.(Ala10Argfs*83) Unknown g.21266791del - APOB(NM_000384.2):c.28delG (p.A10Rfs*83) - APOB_000484 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.35T>C benign r.(?) p.(Leu12Pro) Unknown g.21266783A>G - APOB(NM_000384.2):c.35T>C (p.L12P) - APOB_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.35_43del benign r.(?) p.(Leu12_Leu14del) Unknown g.21266791_21266799del - APOB(NM_000384.2):c.35_43delTGGCGCTGC (p.L12_L14del) - APOB_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.35_43del benign r.(?) p.(Leu12_Leu14del) Unknown g.21266791_21266799del - APOB(NM_000384.2):c.35_43delTGGCGCTGC (p.L12_L14del) - APOB_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35_43dup VUS r.(?) p.(Leu12_Leu14dup) Unknown g.21266791_21266799dup - APOB(NM_000384.2):c.35_43dupTGGCGCTGC (p.L12_L14dup) - APOB_000798 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36G>T benign r.(?) p.(=) Unknown g.21266782C>A - APOB(NM_000384.2):c.36G>T (p.=) - APOB_000482 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.44del pathogenic r.(?) p.(Pro15Leufs*78) Unknown g.21266775del - APOB(NM_000384.2):c.44delC (p.P15Lfs*78) - APOB_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.44_49del VUS r.(?) p.(Pro15_Ala16del) Unknown g.21266771_21266776del - APOB(NM_000384.2):c.44_49delCTGCGC (p.P15_A16del) - APOB_000797 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.47_48insT pathogenic r.(?) p.(Leu17Alafs*41) Unknown g.21266770_21266771insA - APOB(NM_000384.2):c.47_48insT (p.L17Afs*41) - APOB_000796 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61_66dup likely benign r.(?) p.(Leu21_Leu22dup) Unknown g.21266765_21266770dup - APOB(NM_000384.2):c.61_66dupCTGCTG (p.L21_L22dup) - APOB_000794 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64_66del benign r.(?) p.(Leu22del) Unknown g.21266768_21266770del - APOB(NM_000384.2):c.64_66delCTG (p.L22del) - APOB_000479 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.64_66dup benign r.(?) p.(Leu22dup) Unknown g.21266768_21266770dup - APOB(NM_000384.2):c.64_66dupCTG (p.L22dup) - APOB_000795 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.73del pathogenic (recessive) r.(?) p.(Ala25Profs*68) Both (homozygous) g.21266745del - 73delG - APOB_000492 - PubMed: Di Filippo 2014, Journal: Di Filippo 2014 - - Germline - - - 0 - DNA SEQ - - FHBL-1 24842304-FamPatB1 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - 1 Johan den Dunnen
+/+ 1i c.82+1G>A pathogenic r.(spl?) p.(?) Both (homozygous) g.21266735C>T - - - APOB_000169 - PubMed: Whitfield 2003 - - Germline yes - - 0 - DNA SEQ - - FHBL-1 - PubMed: Whitfield 2003 homozygous FHBL F - South Africa - - 0 - - 5 Amanda Hooper
+/? 1i c.82+1G>C pathogenic r.(spl?) p.(?) Unknown g.21266735C>G - - - APOB_000011 - - - - Germline ? - - 0 - DNA SEQ - - FHBL-1 - - - F - - - - 0 - - 1 Sigrid Fouchier
+/+? 1i c.82+1G>C pathogenic r.spl? p.? Unknown g.21266735C>G - 210+1G_C - APOB_000167 - PubMed: Welty 2001 - - Germline - - - 0 - DNA SEQ - - FHBL-1 - PubMed: Welty 1995 - - - - - - 0 - - 4 Amanda Hooper
-/. - c.82+8C>G benign r.(=) p.(=) Unknown g.21266728G>C - APOB(NM_000384.2):c.82+8C>G - APOB_000477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.82+16C>T likely benign r.(=) p.(=) Unknown g.21266720G>A - APOB(NM_000384.2):c.82+16C>T - APOB_000476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.107G>C likely benign r.(?) p.(Ser36Thr) Unknown g.21266399C>G - APOB(NM_000384.2):c.107G>C (p.S36T) - APOB_000793 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121+16A>G likely benign r.(=) p.(=) Unknown g.21266369T>C - APOB(NM_000384.2):c.121+16A>G - APOB_000475 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.121+221G>A benign r.(=) p.(=) Unknown g.21266164C>T - APOB(NM_000384.2):c.121+221G>A - APOB_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.122-170T>A likely benign r.(=) p.(=) Unknown g.21265518A>T - APOB(NM_000384.2):c.122-170T>A - APOB_000791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129G>C benign r.(?) p.(=) Unknown g.21265341C>G - APOB(NM_000384.2):c.129G>C (p.A43=) - APOB_000474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.129G>C likely benign r.(?) p.(=) Unknown g.21265341C>G - APOB(NM_000384.2):c.129G>C (p.A43=) - APOB_000474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.129G>C benign r.(?) p.(=) Unknown g.21265341C>G - APOB(NM_000384.2):c.129G>C (p.A43=) - APOB_000474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.141G>A likely benign r.(?) p.(=) Unknown g.21265329C>T - APOB(NM_000384.2):c.141G>A (p.=) - APOB_000790 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.148C>T pathogenic r.(?) p.(Arg50Trp) Parent #1 g.21265322G>A - - - APOB_000012 reads containing variant: 63/118, 38/90, 41/93, 40/86; normal 2nd chromosome PubMed: Thomas 2013 - - Germline ? - - 0 - DNA SEQ - - hypercholesterolemia, autosomal dominant, type B - - family with 4 affecteds - - United Kingdom (Great Britain) - - 0 - - 4 Ellen Thomas
+/+ 3 c.158_163del pathogenic r.? p.Thr53_Tyr54del Unknown g.21265307_21265312del - - - APOB_000190 In vitro studies showed that secretion of the mutant apoB is defective, due to its increased cellular degradation.; normal 2nd chromosome PubMed: Magnolo 2016 - - Unknown - - - 0 - DNA SEQ - - FHBL-1 - PubMed: Magnolo 2016 - - - (Italy) - - 0 - - 1 -
+/+ 3 c.172G>C pathogenic r.(?) p.(Ala58Pro) Unknown g.21265298C>G - Ala31Pro - APOB_000125 normal 2nd chromosome PubMed: Zhong 2010 - - Germline - - - 0 - DNA SEQ - - FHBL-1 - PubMed: Zhong 2010 - - - - - - 0 - - 3 Amanda Hooper
+/. - c.237+1G>A pathogenic r.spl? p.? Unknown g.21265232C>T - APOB(NM_000384.2):c.237+1G>A - APOB_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.237+92G>T likely benign r.(=) p.(=) Unknown g.21265141C>A - APOB(NM_000384.2):c.237+92G>T - APOB_000789 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237+296A>C likely benign r.(=) p.(=) Unknown g.21264937T>G - APOB(NM_000384.2):c.237+296A>C - APOB_000788 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238-6T>C likely benign r.(=) p.(=) Unknown g.21263961A>G - APOB(NM_000384.2):c.238-6T>C - APOB_000787 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.253C>T likely benign r.(?) p.(Pro85Ser) Unknown g.21263940G>A - APOB(NM_000384.2):c.253C>T (p.P85S) - APOB_000786 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.289T>G likely pathogenic (recessive) r.(?) p.(Cys97Gly) Both (homozygous) g.21263904A>C - - - APOB_000495 - PubMed: Di Filippo 2014, Journal: Di Filippo 2014 - - Germline - - - 0 - DNA SEQ - - FHBL-1 24842304-FamPatB5/B6 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sibs M - France - - 0 - - 2 Johan den Dunnen
-/. - c.293C>T benign r.(?) p.(Thr98Ile) Unknown g.21263900G>A - APOB(NM_000384.2):c.293C>T (p.T98I) - APOB_000472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.293C>T benign r.(?) p.(Thr98Ile) Unknown g.21263900G>A - APOB(NM_000384.2):c.293C>T (p.T98I) - APOB_000472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.293C>T VUS r.(?) p.(?) Unknown g.21263900G>A - - - APOB_000020 - {dbSNP1367117} - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 -
-?/. - c.307T>C likely benign r.(?) p.(Tyr103His) Unknown g.21263886A>G - APOB(NM_000384.2):c.307T>C (p.Y103H) - APOB_000471 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.344A>T likely benign r.(?) p.(Lys115Ile) Unknown g.21263849T>A - APOB(NM_000384.2):c.344A>T (p.K115I) - APOB_000470 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.354C>A likely benign r.(?) p.(Asn118Lys) Unknown g.21263839G>T - APOB(NM_000384.2):c.354C>A (p.N118K) - APOB_000469 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.383+171A>C likely benign r.(=) p.(=) Unknown g.21263639T>G - APOB(NM_000384.2):c.383+171A>C - APOB_000785 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.400G>T likely benign r.(?) p.(Ala134Ser) Unknown g.21260967C>A - APOB(NM_000384.2):c.400G>T (p.A134S) - APOB_000784 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.403A>G likely benign r.(?) p.(Ile135Val) Unknown g.21260964T>C - APOB(NM_000384.2):c.403A>G (p.I135V) - APOB_000783 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.433C>T benign r.(?) p.(Pro145Ser) Unknown g.21260934G>A - APOB(NM_000384.2):c.433C>T (p.P145S) - APOB_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.434C>T benign r.(?) p.(Pro145Leu) Unknown g.21260933G>A - APOB(NM_000384.2):c.434C>T (p.P145L) - APOB_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434C>T VUS r.(?) p.(Pro145Leu) Unknown g.21260933G>A - APOB(NM_000384.2):c.434C>T (p.P145L) - APOB_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.499C>T - r.(?) p.(Pro167Ser) Parent #1 g.21260868G>A g.21037996G>A - - APOB_000800 - PubMed: Braenne 2016, Journal: Braenne 2016 - - Germline no - - 0 - DNA SEQ-NG - - MCI-1, hypercholesterolemia, autosomal dominant, type B - PubMed: Braenne 2016, Journal: Braenne 2016 - - - Germany - - 0 - - 1 Benedikt Reiz
+/+ 5i c.537+1G>T pathogenic r.(?) p.(?) Paternal (confirmed) g.21260829C>A - - - APOB_000170 - PubMed: Huang 1991 - - Germline yes - - 0 - DNA SEQ - - FHBL-1 - PubMed: Huang 1991 - M no United States - 18y 0 - - 2 Amanda Hooper
+/+? 5i c.537+1G>T pathogenic r.(?) p.(?) Unknown g.21260829C>A - - - APOB_000170 normal 2nd chromosome PubMed: Leren 2008 - - Unknown - - - 0 - DNA SEQ - - ? - PubMed: Leren 2008 - - - Norway - - 0 - - 1 -
+/+ 5i c.537+1G>T pathogenic r.(?) p.(?) Unknown g.21260829C>A - 665+1G>T - APOB_000170 normal 2nd chromosome PubMed: Pulai 1998 - - Germline yes - - 0 - DNA SEQ - - FHBL-1 - PubMed: Pulai 1998 - F no United States - - 0 - - 11 -
-/. - c.537+17C>T benign r.(=) p.(=) Unknown g.21260813G>A - APOB(NM_000384.2):c.537+17C>T - APOB_000781 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537+229C>T likely benign r.(=) p.(=) Unknown g.21260601G>A - APOB(NM_000384.2):c.537+229C>T - APOB_000780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537+301dup likely benign r.(=) p.(=) Unknown g.21260529dup - APOB(NM_000384.2):c.537+301_537+302insA - APOB_000779 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.538-9C>T benign r.(=) p.(=) Unknown g.21260136G>A - APOB(NM_000384.2):c.538-9C>T - APOB_000467 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.544G>A likely benign r.(?) p.(Val182Met) Unknown g.21260121C>T - APOB(NM_000384.2):c.544G>A (p.V182M) - APOB_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.571A>G likely benign r.(?) p.(Thr191Ala) Unknown g.21260094T>C - APOB(NM_000384.2):c.571A>G (p.T191A) - APOB_000465 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.581C>T likely benign r.(?) p.(Thr194Met) Unknown g.21260084G>A - APOB(NM_000384.2):c.581C>T (p.T194M) - APOB_000464 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.606A>T benign r.(?) p.(Glu202Asp) Unknown g.21260059T>A - APOB(NM_000384.2):c.606A>T (p.E202D) - APOB_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.607A>G benign r.(?) p.(Ile203Val) Unknown g.21260058T>C - APOB(NM_000384.2):c.607A>G (p.I203V) - APOB_000778 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.614del pathogenic (recessive) r.(?) p.(Thr205Metfs*27) Both (homozygous) g.21260051del - 614delC - APOB_000493 - PubMed: Di Filippo 2014, Journal: Di Filippo 2014 - - Germline - - - 0 - DNA SEQ - - FHBL-1 24842304-FamPatB2/B3 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 family, 2 affected brothers M - France - - 0 - - 2 Johan den Dunnen
-?/. - c.641G>A likely benign r.(?) p.(Arg214His) Unknown g.21260024C>T - APOB(NM_000384.2):c.641G>A (p.R214H) - APOB_000777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646A>G likely benign r.(?) p.(Lys216Glu) Unknown g.21260019T>C - APOB(NM_000384.2):c.646A>G (p.K216E) - APOB_000776 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.649C>T VUS r.(?) p.(Pro217Ser) Unknown g.21260016G>A - APOB(NM_000384.2):c.649C>T (p.P217S) - APOB_000462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.656G>T likely benign r.(?) p.(Arg219Leu) Unknown g.21260009C>A - APOB(NM_000384.2):c.656G>T (p.R219L) - APOB_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.656G>T likely benign r.(?) p.(Arg219Leu) Unknown g.21260009C>A - APOB(NM_000384.2):c.656G>T (p.R219L) - APOB_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.693+213C>T benign r.(=) p.(=) Unknown g.21259759G>A - APOB(NM_000384.2):c.693+213C>T - APOB_000775 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.693+360T>C benign r.(=) p.(=) Unknown g.21259612A>G - APOB(NM_000384.2):c.693+360T>C - APOB_000774 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693+410A>G likely benign r.(=) p.(=) Unknown g.21259562T>C - APOB(NM_000384.2):c.693+410A>G - APOB_000773 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.694-20G>A benign r.(=) p.(=) Unknown g.21258600C>T - APOB(NM_000384.2):c.694-20G>A - APOB_000460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.694-8T>C benign r.(=) p.(=) Unknown g.21258588A>G - APOB(NM_000384.2):c.694-8T>C - APOB_000459 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.733T>G likely pathogenic r.(?) p.(Cys245Gly) Unknown g.21258541A>C - APOB(NM_000384.2):c.733T>G (p.C245G) - APOB_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738G>A likely benign r.(?) p.(=) Unknown g.21258536C>T - APOB(NM_000384.2):c.738G>A (p.=) - APOB_000771 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.751G>A benign r.(?) p.(Ala251Thr) Unknown g.21258523C>T - APOB(NM_000384.2):c.751G>A (p.A251T) - APOB_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 7 c.751G>A benign r.? p.(Ala251Thr) Unknown g.21258523C>T - - - APOB_000189 This variant had an allele frequency of 1.15% in a Southern African population (n=654) and was not associated with plasma lipids. - - - Unknown - - - 0 - DNA SEQ - - FHBL-1 - - - F - South Africa Xhosa - 0 - - 1 Amanda Hooper
?/. - c.819-7T>C VUS r.(=) p.(=) Unknown g.21257780A>G - APOB(NM_000384.2):c.819-7T>C - APOB_000770 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 7i c.819-2G>A pathogenic r.(?) p.(?) Both (homozygous) g.21257775C>T - - - APOB_000181 - PubMed: Hegele 2002 - - Germline yes - - 0 - DNA SEQ - - FHBL-1 - PubMed: Hegele 2002 homozygous FHBL F yes Canada - - 0 - - 1 Amanda Hooper
-?/. - c.854C>G likely benign r.(?) p.(Thr285Ser) Unknown g.21257738G>C - APOB(NM_000384.2):c.854C>G (p.T285S) - APOB_000457 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.895T>G likely benign r.(?) p.(Phe299Val) Unknown g.21257697A>C - APOB(NM_000384.2):c.895T>G (p.F299V) - APOB_000456 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.895T>G VUS r.(?) p.(Phe299Val) Unknown g.21257697A>C - APOB(NM_000384.2):c.895T>G (p.F299V) - APOB_000456 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.900T>C benign r.(?) p.(=) Unknown g.21257692A>G - APOB(NM_000384.2):c.900T>C (p.=) - APOB_000455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.900T>C likely benign r.(?) p.(=) Unknown g.21257692A>G - APOB(NM_000384.2):c.900T>C (p.=) - APOB_000455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8i c.904+4A>G pathogenic r.819_904del p.(?) Unknown g.21257684T>C - - - APOB_000166 Shown in vitro to abolish splice site and lead to skipping of exon 8; normal 2nd chromosome PubMed: Di Leo 2007 - - Unknown yes - - 0 - DNA SEQ - - FHBL-1 - PubMed: Di Leo 2007 - F - Italy - - 0 - - 1 Amanda Hooper
-/. - c.904+11C>G benign r.(=) p.(=) Unknown g.21257677G>C - APOB(NM_000384.2):c.904+11C>G - APOB_000769 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 8i c.904+28G>A likely benign r.(?) p.(?) Unknown g.21257660C>T - - - APOB_000005 - - - - Germline ? - - 0 - DNA SEQ - - FHBL-1 - - - - - - - - 0 - - 1 Sigrid Fouchier
-?/. - c.905-99T>A likely benign r.(=) p.(=) Unknown g.21256489A>T - APOB(NM_000384.2):c.905-99T>A - APOB_000768 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.905-16A>C benign r.(=) p.(=) Unknown g.21256406T>G - APOB(NM_000384.2):c.905-16A>C - APOB_000454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.905-15C>G benign r.(=) p.(=) Unknown g.21256405G>C - APOB(NM_000384.2):c.905-15C>G - APOB_000453 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.905-15C>G likely benign r.(=) p.(=) Unknown g.21256405G>C - APOB(NM_000384.2):c.905-15C>G - APOB_000453 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 8i c.905-1_905dupGG pathogenic r.spl? p.(T303Vfs*) Both (homozygous) g.21256390_21256391dup - - - APOB_000163 apoB-7 PubMed: Gangloff 2011 - - Germline ? - - 0 - DNA SEQ - - FHBL-1 - PubMed: Gangloff 2011 - - yes - French Canadian - 0 - - 1 Amanda Hooper
-/. - c.924C>T benign r.(?) p.(=) Unknown g.21256371G>A - APOB(NM_000384.2):c.924C>T (p.=) - APOB_000452 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.925G>A likely benign r.(?) p.(Ala309Thr) Unknown g.21256370C>T - APOB(NM_000384.2):c.925G>A (p.A309T) - APOB_000451 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 9 c.961C>T pathogenic r.(?) p.(Gln321*) Unknown g.21256334G>A - c.1089C>T, Q294X - APOB_000073 apoB-6.46 PubMed: Lancellotti 2004 - - De novo yes - - 0 - DNA SEQ - - FHBL-1 - PubMed: Lancellotti 2004 - M no - - - 0 - - 1 Amanda Hooper
+/+? 9 c.1014_1015del pathogenic r.(?) p.(Glu339Alafs*7) Unknown g.21256280_21256281del - - - APOB_000088 - PubMed: Tarugi 2007 - - Unknown - - - 0 - DNA SEQ - - FHBL-1 - PubMed: Tarugi 2007 - - - - - - 0 - - 1 Amanda Hooper
+/+? 9 c.1019_1026del pathogenic r.(?) p.(Gln340Profs*4) Unknown g.21256269_21256276del - - - APOB_000070 apoB-6.9; normal 2nd chromosome PubMed: Whitfield 2003 - - Germline yes - - 0 - DNA SEQ - - FHBL-1 - - - M no - - - 0 - - 4 Amanda Hooper
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