1 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp)
|
single nucleotide variant |
Pathogenic |
rs121434491
|
GRCh37 |
Chromosome 2, 56098226: 56098226 |
2 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.1033C> T (p.Arg345Trp)
|
single nucleotide variant |
Pathogenic |
rs121434491
|
GRCh38 |
Chromosome 2, 55871091: 55871091 |
3 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.387A> G (p.Glu129=)
|
single nucleotide variant |
Benign |
rs14282
|
GRCh37 |
Chromosome 2, 56144930: 56144930 |
4 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.387A> G (p.Glu129=)
|
single nucleotide variant |
Benign |
rs14282
|
GRCh38 |
Chromosome 2, 55917795: 55917795 |
5 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.518-13A> G
|
single nucleotide variant |
Benign |
rs3748959
|
GRCh37 |
Chromosome 2, 56108882: 56108882 |
6 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.518-13A> G
|
single nucleotide variant |
Benign |
rs3748959
|
GRCh38 |
Chromosome 2, 55881747: 55881747 |
7 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*6delT
|
deletion |
Benign |
rs200536754
|
GRCh37 |
Chromosome 2, 56094202: 56094202 |
8 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*6delT
|
deletion |
Benign |
rs200536754
|
GRCh38 |
Chromosome 2, 55867067: 55867067 |
9 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.1413C> T (p.Ser471=)
|
single nucleotide variant |
Uncertain significance |
rs374690853
|
GRCh37 |
Chromosome 2, 56094277: 56094277 |
10 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.1413C> T (p.Ser471=)
|
single nucleotide variant |
Uncertain significance |
rs374690853
|
GRCh38 |
Chromosome 2, 55867142: 55867142 |
11 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.1001-14C> T
|
single nucleotide variant |
Benign |
rs45535043
|
GRCh37 |
Chromosome 2, 56098272: 56098272 |
12 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.1001-14C> T
|
single nucleotide variant |
Benign |
rs45535043
|
GRCh38 |
Chromosome 2, 55871137: 55871137 |
13 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.146A> C (p.Asp49Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs55849640
|
GRCh37 |
Chromosome 2, 56145171: 56145171 |
14 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.146A> C (p.Asp49Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs55849640
|
GRCh38 |
Chromosome 2, 55918036: 55918036 |
15 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*1088A> C
|
single nucleotide variant |
Uncertain significance |
rs886056188
|
GRCh37 |
Chromosome 2, 56093120: 56093120 |
16 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*1088A> C
|
single nucleotide variant |
Uncertain significance |
rs886056188
|
GRCh38 |
Chromosome 2, 55865985: 55865985 |
17 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*1004C> G
|
single nucleotide variant |
Benign |
rs1802575
|
GRCh37 |
Chromosome 2, 56093204: 56093204 |
18 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*1004C> G
|
single nucleotide variant |
Benign |
rs1802575
|
GRCh38 |
Chromosome 2, 55866069: 55866069 |
19 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*946T> C
|
single nucleotide variant |
Uncertain significance |
rs886056189
|
GRCh37 |
Chromosome 2, 56093262: 56093262 |
20 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*946T> C
|
single nucleotide variant |
Uncertain significance |
rs886056189
|
GRCh38 |
Chromosome 2, 55866127: 55866127 |
21 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*182G> C
|
single nucleotide variant |
Uncertain significance |
rs755194729
|
GRCh38 |
Chromosome 2, 55866891: 55866891 |
22 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*182G> C
|
single nucleotide variant |
Uncertain significance |
rs755194729
|
GRCh37 |
Chromosome 2, 56094026: 56094026 |
23 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*168A> G
|
single nucleotide variant |
Likely benign |
rs1802574
|
GRCh38 |
Chromosome 2, 55866905: 55866905 |
24 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*168A> G
|
single nucleotide variant |
Likely benign |
rs1802574
|
GRCh37 |
Chromosome 2, 56094040: 56094040 |
25 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.761-16_761-15dupTA
|
duplication |
Benign |
rs3838530
|
GRCh38 |
Chromosome 2, 55876757: 55876758 |
26 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.761-16_761-15dupTA
|
duplication |
Benign |
rs3838530
|
GRCh37 |
Chromosome 2, 56103892: 56103893 |
27 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.640+6T> C
|
single nucleotide variant |
Likely benign |
rs192467647
|
GRCh38 |
Chromosome 2, 55881606: 55881606 |
28 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.640+6T> C
|
single nucleotide variant |
Likely benign |
rs192467647
|
GRCh37 |
Chromosome 2, 56108741: 56108741 |
29 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.246A> G (p.Glu82=)
|
single nucleotide variant |
Benign |
rs35447389
|
GRCh38 |
Chromosome 2, 55917936: 55917936 |
30 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.246A> G (p.Glu82=)
|
single nucleotide variant |
Benign |
rs35447389
|
GRCh37 |
Chromosome 2, 56145071: 56145071 |
31 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.207C> A (p.Leu69=)
|
single nucleotide variant |
Benign |
rs12292
|
GRCh38 |
Chromosome 2, 55917975: 55917975 |
32 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.207C> A (p.Leu69=)
|
single nucleotide variant |
Benign |
rs12292
|
GRCh37 |
Chromosome 2, 56145110: 56145110 |
33 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-16T> A
|
single nucleotide variant |
Likely benign |
rs187417918
|
GRCh38 |
Chromosome 2, 55922907: 55922907 |
34 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-16T> A
|
single nucleotide variant |
Likely benign |
rs187417918
|
GRCh37 |
Chromosome 2, 56150042: 56150042 |
35 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-88C> T
|
single nucleotide variant |
Likely benign |
rs143361440
|
GRCh38 |
Chromosome 2, 55923750: 55923750 |
36 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-88C> T
|
single nucleotide variant |
Likely benign |
rs143361440
|
GRCh37 |
Chromosome 2, 56150885: 56150885 |
37 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-196C> T
|
single nucleotide variant |
Benign |
rs3762514
|
GRCh37 |
Chromosome 2, 56150993: 56150993 |
38 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-196C> T
|
single nucleotide variant |
Benign |
rs3762514
|
GRCh38 |
Chromosome 2, 55923858: 55923858 |
39 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-269G> A
|
single nucleotide variant |
Uncertain significance |
rs886056193
|
GRCh37 |
Chromosome 2, 56151066: 56151066 |
40 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-269G> A
|
single nucleotide variant |
Uncertain significance |
rs886056193
|
GRCh38 |
Chromosome 2, 55923931: 55923931 |
41 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-494C> G
|
single nucleotide variant |
Uncertain significance |
rs886056194
|
GRCh37 |
Chromosome 2, 56151291: 56151291 |
42 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.-494C> G
|
single nucleotide variant |
Uncertain significance |
rs886056194
|
GRCh38 |
Chromosome 2, 55924156: 55924156 |
43 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*800C> T
|
single nucleotide variant |
Likely benign |
rs146101049
|
GRCh37 |
Chromosome 2, 56093408: 56093408 |
44 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*800C> T
|
single nucleotide variant |
Likely benign |
rs146101049
|
GRCh38 |
Chromosome 2, 55866273: 55866273 |
45 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*695T> C
|
single nucleotide variant |
Likely benign |
rs3791680
|
GRCh37 |
Chromosome 2, 56093513: 56093513 |
46 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*695T> C
|
single nucleotide variant |
Likely benign |
rs3791680
|
GRCh38 |
Chromosome 2, 55866378: 55866378 |
47 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*687T> C
|
single nucleotide variant |
Likely benign |
rs138843899
|
GRCh37 |
Chromosome 2, 56093521: 56093521 |
48 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*687T> C
|
single nucleotide variant |
Likely benign |
rs138843899
|
GRCh38 |
Chromosome 2, 55866386: 55866386 |
49 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*668C> T
|
single nucleotide variant |
Likely benign |
rs573892776
|
GRCh37 |
Chromosome 2, 56093540: 56093540 |
50 |
EFEMP1
|
NM_001039348.2(EFEMP1): c.*668C> T
|
single nucleotide variant |
Likely benign |
rs573892776
|
GRCh38 |
Chromosome 2, 55866405: 55866405 |