1 |
APOB
|
NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs5742904
|
GRCh37 |
Chromosome 2, 21229160: 21229160 |
2 |
APOB
|
NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs5742904
|
GRCh38 |
Chromosome 2, 21006288: 21006288 |
3 |
APOB
|
NM_000384.2(APOB): c.10672C> T (p.Arg3558Cys)
|
single nucleotide variant |
Uncertain significance |
rs12713559
|
GRCh37 |
Chromosome 2, 21229068: 21229068 |
4 |
APOB
|
NM_000384.2(APOB): c.10672C> T (p.Arg3558Cys)
|
single nucleotide variant |
Uncertain significance |
rs12713559
|
GRCh38 |
Chromosome 2, 21006196: 21006196 |
5 |
APOB
|
NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144467873
|
GRCh37 |
Chromosome 2, 21229161: 21229161 |
6 |
APOB
|
NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144467873
|
GRCh38 |
Chromosome 2, 21006289: 21006289 |
7 |
APOB
|
NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146377316
|
GRCh37 |
Chromosome 2, 21230565: 21230565 |
8 |
APOB
|
NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146377316
|
GRCh38 |
Chromosome 2, 21007693: 21007693 |
9 |
APOB
|
NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146377316
|
NCBI36 |
Chromosome 2, 21084070: 21084070 |
10 |
APOB
|
NM_000384.2(APOB): c.12252T> C (p.Tyr4084=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138157751
|
GRCh37 |
Chromosome 2, 21226042: 21226042 |
11 |
APOB
|
NM_000384.2(APOB): c.12252T> C (p.Tyr4084=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138157751
|
GRCh38 |
Chromosome 2, 21003170: 21003170 |
12 |
APOB
|
NM_000384.2(APOB): c.12252T> C (p.Tyr4084=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138157751
|
NCBI36 |
Chromosome 2, 21079547: 21079547 |
13 |
APOB
|
NM_000384.2(APOB): c.13441G> A (p.Ala4481Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1801695
|
GRCh37 |
Chromosome 2, 21224853: 21224853 |
14 |
APOB
|
NM_000384.2(APOB): c.13441G> A (p.Ala4481Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1801695
|
GRCh38 |
Chromosome 2, 21001981: 21001981 |
15 |
APOB
|
NM_000384.2(APOB): c.2188G> A (p.Val730Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12691202
|
GRCh37 |
Chromosome 2, 21249716: 21249716 |
16 |
APOB
|
NM_000384.2(APOB): c.2188G> A (p.Val730Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12691202
|
GRCh38 |
Chromosome 2, 21026844: 21026844 |
17 |
APOB
|
NM_000384.2(APOB): c.5768A> G (p.His1923Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs533617
|
GRCh37 |
Chromosome 2, 21233972: 21233972 |
18 |
APOB
|
NM_000384.2(APOB): c.5768A> G (p.His1923Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs533617
|
GRCh38 |
Chromosome 2, 21011100: 21011100 |
19 |
APOB
|
NM_000384.2(APOB): c.6936C> T (p.Asp2312=)
|
single nucleotide variant |
Benign/Likely benign |
rs1041968
|
GRCh37 |
Chromosome 2, 21232804: 21232804 |
20 |
APOB
|
NM_000384.2(APOB): c.6936C> T (p.Asp2312=)
|
single nucleotide variant |
Benign/Likely benign |
rs1041968
|
GRCh38 |
Chromosome 2, 21009932: 21009932 |
21 |
APOB
|
NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu)
|
single nucleotide variant |
Benign/Likely benign |
rs1042023
|
GRCh37 |
Chromosome 2, 21229446: 21229446 |
22 |
APOB
|
NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu)
|
single nucleotide variant |
Benign/Likely benign |
rs1042023
|
GRCh38 |
Chromosome 2, 21006574: 21006574 |
23 |
APOB
|
NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp)
|
single nucleotide variant |
Likely pathogenic |
rs730880052
|
GRCh37 |
Chromosome 2, 21229553: 21229553 |
24 |
APOB
|
NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp)
|
single nucleotide variant |
Likely pathogenic |
rs730880052
|
GRCh38 |
Chromosome 2, 21006681: 21006681 |
25 |
APOB
|
NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del)
|
deletion |
Conflicting interpretations of pathogenicity |
rs541497967
|
GRCh37 |
Chromosome 2, 21233099: 21233101 |
26 |
APOB
|
NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del)
|
deletion |
Conflicting interpretations of pathogenicity |
rs541497967
|
GRCh38 |
Chromosome 2, 21010227: 21010229 |
27 |
APOB
|
NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1801696
|
GRCh38 |
Chromosome 2, 21009172: 21009172 |
28 |
APOB
|
NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1801696
|
GRCh37 |
Chromosome 2, 21232044: 21232044 |
29 |
APOB
|
NM_000384.2(APOB): c.5066G> A (p.Arg1689His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs151009667
|
GRCh38 |
Chromosome 2, 21011802: 21011802 |
30 |
APOB
|
NM_000384.2(APOB): c.5066G> A (p.Arg1689His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs151009667
|
GRCh37 |
Chromosome 2, 21234674: 21234674 |
31 |
APOB
|
NM_000384.2(APOB): c.2585T> C (p.Val862Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145142090
|
GRCh38 |
Chromosome 2, 21023544: 21023544 |
32 |
APOB
|
NM_000384.2(APOB): c.2585T> C (p.Val862Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145142090
|
GRCh37 |
Chromosome 2, 21246416: 21246416 |
33 |
APOB
|
NM_000384.2(APOB): c.1661C> T (p.Pro554Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12714214
|
GRCh37 |
Chromosome 2, 21251367: 21251367 |
34 |
APOB
|
NM_000384.2(APOB): c.1661C> T (p.Pro554Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12714214
|
GRCh38 |
Chromosome 2, 21028495: 21028495 |
35 |
APOB
|
NM_000384.2(APOB): c.1298C> T (p.Ala433Val)
|
single nucleotide variant |
Likely benign |
rs13306190
|
GRCh37 |
Chromosome 2, 21255280: 21255280 |
36 |
APOB
|
NM_000384.2(APOB): c.1298C> T (p.Ala433Val)
|
single nucleotide variant |
Likely benign |
rs13306190
|
GRCh38 |
Chromosome 2, 21032408: 21032408 |
37 |
APOB
|
NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12720854
|
GRCh38 |
Chromosome 2, 21007033: 21007033 |
38 |
APOB
|
NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12720854
|
GRCh37 |
Chromosome 2, 21229905: 21229905 |
39 |
APOB
|
NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs72653095
|
GRCh37 |
Chromosome 2, 21231278: 21231278 |
40 |
APOB
|
NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs72653095
|
GRCh38 |
Chromosome 2, 21008406: 21008406 |
41 |
APOB
|
NM_000384.2(APOB): c.8353A> C (p.Asn2785His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs2163204
|
GRCh37 |
Chromosome 2, 21231387: 21231387 |
42 |
APOB
|
NM_000384.2(APOB): c.8353A> C (p.Asn2785His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs2163204
|
GRCh38 |
Chromosome 2, 21008515: 21008515 |
43 |
APOB
|
NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs72653092
|
GRCh37 |
Chromosome 2, 21232455: 21232455 |
44 |
APOB
|
NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs72653092
|
GRCh38 |
Chromosome 2, 21009583: 21009583 |
45 |
APOB
|
NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs1801699
|
GRCh37 |
Chromosome 2, 21233999: 21233999 |
46 |
APOB
|
NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs1801699
|
GRCh38 |
Chromosome 2, 21011127: 21011127 |
47 |
APOB
|
NM_000384.2(APOB): c.4178C> T (p.Ala1393Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143282164
|
GRCh37 |
Chromosome 2, 21236070: 21236070 |
48 |
APOB
|
NM_000384.2(APOB): c.4178C> T (p.Ala1393Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143282164
|
GRCh38 |
Chromosome 2, 21013198: 21013198 |
49 |
APOB
|
NM_000384.2(APOB): c.3634C> A (p.Leu1212Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs61736761
|
GRCh37 |
Chromosome 2, 21238007: 21238007 |
50 |
APOB
|
NM_000384.2(APOB): c.3634C> A (p.Leu1212Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs61736761
|
GRCh38 |
Chromosome 2, 21015135: 21015135 |