1 |
MBL2
|
NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)
|
single nucleotide variant |
Pathogenic |
rs1800450
|
GRCh37 |
Chromosome 10, 54531235: 54531235 |
2 |
MBL2
|
NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)
|
single nucleotide variant |
Pathogenic |
rs1800450
|
GRCh38 |
Chromosome 10, 52771475: 52771475 |
3 |
MBL2
|
NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1800451
|
GRCh37 |
Chromosome 10, 54531226: 54531226 |
4 |
MBL2
|
NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1800451
|
GRCh38 |
Chromosome 10, 52771466: 52771466 |
5 |
MBL2
|
NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)
|
single nucleotide variant |
Pathogenic |
rs5030737
|
GRCh37 |
Chromosome 10, 54531242: 54531242 |
6 |
MBL2
|
NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)
|
single nucleotide variant |
Pathogenic |
rs5030737
|
GRCh38 |
Chromosome 10, 52771482: 52771482 |
7 |
MBL2
|
NM_000242.2(MBL2): c.*2727G> T
|
single nucleotide variant |
Uncertain significance |
rs138449358
|
GRCh37 |
Chromosome 10, 54525170: 54525170 |
8 |
MBL2
|
NM_000242.2(MBL2): c.*2727G> T
|
single nucleotide variant |
Uncertain significance |
rs138449358
|
GRCh38 |
Chromosome 10, 52765410: 52765410 |
9 |
MBL2
|
NM_000242.2(MBL2): c.*2450A> T
|
single nucleotide variant |
Uncertain significance |
rs56325023
|
GRCh37 |
Chromosome 10, 54525447: 54525447 |
10 |
MBL2
|
NM_000242.2(MBL2): c.*2450A> T
|
single nucleotide variant |
Uncertain significance |
rs56325023
|
GRCh38 |
Chromosome 10, 52765687: 52765687 |
11 |
MBL2
|
NM_000242.2(MBL2): c.*2033G> A
|
single nucleotide variant |
Uncertain significance |
rs544901610
|
GRCh37 |
Chromosome 10, 54525864: 54525864 |
12 |
MBL2
|
NM_000242.2(MBL2): c.*2033G> A
|
single nucleotide variant |
Uncertain significance |
rs544901610
|
GRCh38 |
Chromosome 10, 52766104: 52766104 |
13 |
MBL2
|
NM_000242.2(MBL2): c.*1995delC
|
deletion |
Uncertain significance |
rs751460283
|
GRCh37 |
Chromosome 10, 54525902: 54525902 |
14 |
MBL2
|
NM_000242.2(MBL2): c.*1995delC
|
deletion |
Uncertain significance |
rs751460283
|
GRCh38 |
Chromosome 10, 52766142: 52766142 |
15 |
MBL2
|
NM_000242.2(MBL2): c.*1819T> C
|
single nucleotide variant |
Uncertain significance |
rs774307463
|
GRCh37 |
Chromosome 10, 54526078: 54526078 |
16 |
MBL2
|
NM_000242.2(MBL2): c.*1819T> C
|
single nucleotide variant |
Uncertain significance |
rs774307463
|
GRCh38 |
Chromosome 10, 52766318: 52766318 |
17 |
MBL2
|
NM_000242.2(MBL2): c.*1695G> T
|
single nucleotide variant |
Uncertain significance |
rs35768126
|
GRCh37 |
Chromosome 10, 54526202: 54526202 |
18 |
MBL2
|
NM_000242.2(MBL2): c.*1695G> T
|
single nucleotide variant |
Uncertain significance |
rs35768126
|
GRCh38 |
Chromosome 10, 52766442: 52766442 |
19 |
MBL2
|
NM_000242.2(MBL2): c.*1569A> G
|
single nucleotide variant |
Uncertain significance |
rs754268753
|
GRCh37 |
Chromosome 10, 54526328: 54526328 |
20 |
MBL2
|
NM_000242.2(MBL2): c.*1569A> G
|
single nucleotide variant |
Uncertain significance |
rs754268753
|
GRCh38 |
Chromosome 10, 52766568: 52766568 |
21 |
MBL2
|
NM_000242.2(MBL2): c.*1498C> T
|
single nucleotide variant |
Uncertain significance |
rs56009657
|
GRCh37 |
Chromosome 10, 54526399: 54526399 |
22 |
MBL2
|
NM_000242.2(MBL2): c.*1498C> T
|
single nucleotide variant |
Uncertain significance |
rs56009657
|
GRCh38 |
Chromosome 10, 52766639: 52766639 |
23 |
MBL2
|
NM_000242.2(MBL2): c.*674A> G
|
single nucleotide variant |
Uncertain significance |
rs886047049
|
GRCh37 |
Chromosome 10, 54527223: 54527223 |
24 |
MBL2
|
NM_000242.2(MBL2): c.*674A> G
|
single nucleotide variant |
Uncertain significance |
rs886047049
|
GRCh38 |
Chromosome 10, 52767463: 52767463 |
25 |
MBL2
|
NM_000242.2(MBL2): c.302C> T (p.Pro101Leu)
|
single nucleotide variant |
Uncertain significance |
rs143562102
|
GRCh37 |
Chromosome 10, 54530432: 54530432 |
26 |
MBL2
|
NM_000242.2(MBL2): c.302C> T (p.Pro101Leu)
|
single nucleotide variant |
Uncertain significance |
rs143562102
|
GRCh38 |
Chromosome 10, 52770672: 52770672 |
27 |
MBL2
|
NM_000242.2(MBL2): c.166A> G (p.Lys56Glu)
|
single nucleotide variant |
Uncertain significance |
rs886047052
|
GRCh37 |
Chromosome 10, 54531230: 54531230 |
28 |
MBL2
|
NM_000242.2(MBL2): c.166A> G (p.Lys56Glu)
|
single nucleotide variant |
Uncertain significance |
rs886047052
|
GRCh38 |
Chromosome 10, 52771470: 52771470 |
29 |
MBL2
|
NM_000242.2(MBL2): c.-14C> G
|
single nucleotide variant |
Uncertain significance |
rs184683428
|
GRCh37 |
Chromosome 10, 54531409: 54531409 |
30 |
MBL2
|
NM_000242.2(MBL2): c.-14C> G
|
single nucleotide variant |
Uncertain significance |
rs184683428
|
GRCh38 |
Chromosome 10, 52771649: 52771649 |
31 |
MBL2
|
NM_000242.2(MBL2): c.*2702G> A
|
single nucleotide variant |
Uncertain significance |
rs114932753
|
GRCh38 |
Chromosome 10, 52765435: 52765435 |
32 |
MBL2
|
NM_000242.2(MBL2): c.*2702G> A
|
single nucleotide variant |
Uncertain significance |
rs114932753
|
GRCh37 |
Chromosome 10, 54525195: 54525195 |
33 |
MBL2
|
NM_000242.2(MBL2): c.*2477C> T
|
single nucleotide variant |
Uncertain significance |
rs55855374
|
GRCh37 |
Chromosome 10, 54525420: 54525420 |
34 |
MBL2
|
NM_000242.2(MBL2): c.*2477C> T
|
single nucleotide variant |
Uncertain significance |
rs55855374
|
GRCh38 |
Chromosome 10, 52765660: 52765660 |
35 |
MBL2
|
NM_000242.2(MBL2): c.*2048A> G
|
single nucleotide variant |
Likely benign |
rs2099902
|
GRCh37 |
Chromosome 10, 54525849: 54525849 |
36 |
MBL2
|
NM_000242.2(MBL2): c.*2048A> G
|
single nucleotide variant |
Likely benign |
rs2099902
|
GRCh38 |
Chromosome 10, 52766089: 52766089 |
37 |
MBL2
|
NM_000242.2(MBL2): c.*1913C> T
|
single nucleotide variant |
Likely benign |
rs2165813
|
GRCh37 |
Chromosome 10, 54525984: 54525984 |
38 |
MBL2
|
NM_000242.2(MBL2): c.*1913C> T
|
single nucleotide variant |
Likely benign |
rs2165813
|
GRCh38 |
Chromosome 10, 52766224: 52766224 |
39 |
MBL2
|
NM_000242.2(MBL2): c.*1879A> C
|
single nucleotide variant |
Likely benign |
rs2120131
|
GRCh37 |
Chromosome 10, 54526018: 54526018 |
40 |
MBL2
|
NM_000242.2(MBL2): c.*1879A> C
|
single nucleotide variant |
Likely benign |
rs2120131
|
GRCh38 |
Chromosome 10, 52766258: 52766258 |
41 |
MBL2
|
NM_000242.2(MBL2): c.*1694G> T
|
single nucleotide variant |
Uncertain significance |
rs35327474
|
GRCh37 |
Chromosome 10, 54526203: 54526203 |
42 |
MBL2
|
NM_000242.2(MBL2): c.*1694G> T
|
single nucleotide variant |
Uncertain significance |
rs35327474
|
GRCh38 |
Chromosome 10, 52766443: 52766443 |
43 |
MBL2
|
NM_000242.2(MBL2): c.*1429A> C
|
single nucleotide variant |
Uncertain significance |
rs577771508
|
GRCh38 |
Chromosome 10, 52766708: 52766708 |
44 |
MBL2
|
NM_000242.2(MBL2): c.*1429A> C
|
single nucleotide variant |
Uncertain significance |
rs577771508
|
GRCh37 |
Chromosome 10, 54526468: 54526468 |
45 |
MBL2
|
NM_000242.2(MBL2): c.*1136A> G
|
single nucleotide variant |
Uncertain significance |
rs115639140
|
GRCh37 |
Chromosome 10, 54526761: 54526761 |
46 |
MBL2
|
NM_000242.2(MBL2): c.*1136A> G
|
single nucleotide variant |
Uncertain significance |
rs115639140
|
GRCh38 |
Chromosome 10, 52767001: 52767001 |
47 |
MBL2
|
NM_000242.2(MBL2): c.*1088C> T
|
single nucleotide variant |
Uncertain significance |
rs56095345
|
GRCh37 |
Chromosome 10, 54526809: 54526809 |
48 |
MBL2
|
NM_000242.2(MBL2): c.*1088C> T
|
single nucleotide variant |
Uncertain significance |
rs56095345
|
GRCh38 |
Chromosome 10, 52767049: 52767049 |
49 |
MBL2
|
NM_000242.2(MBL2): c.*953T> C
|
single nucleotide variant |
Uncertain significance |
rs886047047
|
GRCh37 |
Chromosome 10, 54526944: 54526944 |
50 |
MBL2
|
NM_000242.2(MBL2): c.*953T> C
|
single nucleotide variant |
Uncertain significance |
rs886047047
|
GRCh38 |
Chromosome 10, 52767184: 52767184 |