1 |
MBD5
|
nsv513766
|
deletion |
Pathogenic |
|
|
|
2 |
MBD5
|
MBD5, THR157GLNFSTER4
|
undetermined variant |
Pathogenic |
|
|
|
3 |
MBD5
|
NM_018328.4(MBD5): c.150delT (p.Thr52Hisfs)
|
deletion |
Pathogenic |
rs398122412
|
GRCh37 |
Chromosome 2, 149220187: 149220187 |
4 |
MBD5
|
NM_018328.4(MBD5): c.150delT (p.Thr52Hisfs)
|
deletion |
Pathogenic |
rs398122412
|
GRCh38 |
Chromosome 2, 148462618: 148462618 |
5 |
MBD5
|
NM_018328.4(MBD5): c.2030G> A (p.Ser677Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs114314967
|
GRCh37 |
Chromosome 2, 149227542: 149227542 |
6 |
MBD5
|
NM_018328.4(MBD5): c.2030G> A (p.Ser677Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs114314967
|
GRCh38 |
Chromosome 2, 148469973: 148469973 |
7 |
MBD5
|
NM_018328.4(MBD5): c.2605G> A (p.Val869Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs116207524
|
GRCh37 |
Chromosome 2, 149240765: 149240765 |
8 |
MBD5
|
NM_018328.4(MBD5): c.2605G> A (p.Val869Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs116207524
|
GRCh38 |
Chromosome 2, 148483196: 148483196 |
9 |
MBD5
|
NM_018328.4(MBD5): c.297A> G (p.Leu99=)
|
single nucleotide variant |
Benign |
rs77213206
|
GRCh37 |
Chromosome 2, 149221388: 149221388 |
10 |
MBD5
|
NM_018328.4(MBD5): c.297A> G (p.Leu99=)
|
single nucleotide variant |
Benign |
rs77213206
|
GRCh38 |
Chromosome 2, 148463819: 148463819 |
11 |
MBD5
|
NM_018328.4(MBD5): c.1368G> T (p.Ser456=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146020786
|
GRCh37 |
Chromosome 2, 149226880: 149226880 |
12 |
MBD5
|
NM_018328.4(MBD5): c.1368G> T (p.Ser456=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146020786
|
GRCh38 |
Chromosome 2, 148469311: 148469311 |
13 |
MBD5
|
NM_018328.4(MBD5): c.1596A> G (p.Val532=)
|
single nucleotide variant |
Benign/Likely benign |
rs114611333
|
GRCh37 |
Chromosome 2, 149227108: 149227108 |
14 |
MBD5
|
NM_018328.4(MBD5): c.1596A> G (p.Val532=)
|
single nucleotide variant |
Benign/Likely benign |
rs114611333
|
GRCh38 |
Chromosome 2, 148469539: 148469539 |
15 |
MBD5
|
NM_018328.4(MBD5): c.3243T> A (p.Gly1081=)
|
single nucleotide variant |
Benign |
rs115816749
|
GRCh37 |
Chromosome 2, 149247143: 149247143 |
16 |
MBD5
|
NM_018328.4(MBD5): c.3243T> A (p.Gly1081=)
|
single nucleotide variant |
Benign |
rs115816749
|
GRCh38 |
Chromosome 2, 148489574: 148489574 |
17 |
MBD5
|
NM_018328.4(MBD5): c.3310A> G (p.Ile1104Val)
|
single nucleotide variant |
Benign/Likely benign |
rs115940994
|
GRCh37 |
Chromosome 2, 149247210: 149247210 |
18 |
MBD5
|
NM_018328.4(MBD5): c.3310A> G (p.Ile1104Val)
|
single nucleotide variant |
Benign/Likely benign |
rs115940994
|
GRCh38 |
Chromosome 2, 148489641: 148489641 |
19 |
MBD5
|
NM_018328.4(MBD5): c.3494G> A (p.Arg1165Gln)
|
single nucleotide variant |
Uncertain significance |
rs727503999
|
GRCh37 |
Chromosome 2, 149247394: 149247394 |
20 |
MBD5
|
NM_018328.4(MBD5): c.3494G> A (p.Arg1165Gln)
|
single nucleotide variant |
Uncertain significance |
rs727503999
|
GRCh38 |
Chromosome 2, 148489825: 148489825 |
21 |
MBD5
|
NM_018328.4(MBD5): c.1570C> T (p.Pro524Ser)
|
single nucleotide variant |
Uncertain significance |
rs727503998
|
GRCh37 |
Chromosome 2, 149227082: 149227082 |
22 |
MBD5
|
NM_018328.4(MBD5): c.1570C> T (p.Pro524Ser)
|
single nucleotide variant |
Uncertain significance |
rs727503998
|
GRCh38 |
Chromosome 2, 148469513: 148469513 |
23 |
MBD5
|
NM_018328.4(MBD5): c.2314A> C (p.Asn772His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200151142
|
GRCh37 |
Chromosome 2, 149227826: 149227826 |
24 |
MBD5
|
NM_018328.4(MBD5): c.2314A> C (p.Asn772His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200151142
|
GRCh38 |
Chromosome 2, 148470257: 148470257 |
25 |
MBD5
|
NM_018328.4(MBD5): c.3279C> T (p.Val1093=)
|
single nucleotide variant |
Benign/Likely benign |
rs35692977
|
GRCh37 |
Chromosome 2, 149247179: 149247179 |
26 |
MBD5
|
NM_018328.4(MBD5): c.3279C> T (p.Val1093=)
|
single nucleotide variant |
Benign/Likely benign |
rs35692977
|
GRCh38 |
Chromosome 2, 148489610: 148489610 |
27 |
EPC2; KIF5C; MBD5; ORC4
|
NC_000002.12: g.147973457_148903258del
|
deletion |
Pathogenic |
|
NCBI36 |
Chromosome 2, 148447496: 149377297 |
28 |
EPC2; KIF5C; MBD5; ORC4
|
NC_000002.12: g.147973457_148903258del
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 2, 148731026: 149660827 |
29 |
EPC2; KIF5C; MBD5; ORC4
|
NC_000002.12: g.147973457_148903258del
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 2, 147973457: 148903258 |
30 |
Pathogenic
|
NC_000002.10: g.146798229_150310317del3512089
|
deletion |
0 |
rsRCV000162198
|
Chromosome 2, 146798229:150310317 |
183384 |
31 |
Pathogenic
|
NC_000002.10: g.146798229_150310317del3512089
|
deletion |
0 |
rsRCV000162198
|
Chromosome 2, 146798229:150310317 |
183384 |
32 |
MBD5; ORC4
|
NC_000002.12
|
deletion |
Pathogenic |
|
NCBI36 |
Chromosome 2, 148432391: 148737275 |
33 |
MBD5; ORC4
|
NC_000002.12
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 2, 148715921: 149020805 |
34 |
MBD5; ORC4
|
NC_000002.12
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 2, 147958352: 148263236 |
35 |
Pathogenic
|
chr17
|
deletion |
0 |
rsRCV000162200
|
|
183386 |
36 |
MBD5
|
NM_018328.4(MBD5): c.2840G> A (p.Gly947Glu)
|
single nucleotide variant |
Uncertain significance |
rs114359726
|
GRCh37 |
Chromosome 2, 149241000: 149241000 |
37 |
MBD5
|
NM_018328.4(MBD5): c.2840G> A (p.Gly947Glu)
|
single nucleotide variant |
Uncertain significance |
rs114359726
|
GRCh38 |
Chromosome 2, 148483431: 148483431 |
38 |
MBD5
|
NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143028540
|
GRCh37 |
Chromosome 2, 149243509: 149243509 |
39 |
MBD5
|
NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143028540
|
GRCh38 |
Chromosome 2, 148485940: 148485940 |
40 |
MBD5
|
NM_018328.4(MBD5): c.2903C> T (p.Ser968Leu)
|
single nucleotide variant |
Uncertain significance |
rs200985982
|
GRCh37 |
Chromosome 2, 149243368: 149243368 |
41 |
MBD5
|
NM_018328.4(MBD5): c.2903C> T (p.Ser968Leu)
|
single nucleotide variant |
Uncertain significance |
rs200985982
|
GRCh38 |
Chromosome 2, 148485799: 148485799 |
42 |
MBD5
|
NM_018328.4(MBD5): c.69G> A (p.Val23=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs151204004
|
GRCh37 |
Chromosome 2, 149216396: 149216396 |
43 |
MBD5
|
NM_018328.4(MBD5): c.69G> A (p.Val23=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs151204004
|
GRCh38 |
Chromosome 2, 148458827: 148458827 |
44 |
MBD5
|
NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs)
|
deletion |
Pathogenic |
rs794727928
|
GRCh37 |
Chromosome 2, 149221431: 149221438 |
45 |
MBD5
|
NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs)
|
deletion |
Pathogenic |
rs794727928
|
GRCh38 |
Chromosome 2, 148463862: 148463869 |
46 |
MBD5
|
NM_018328.4(MBD5): c.236G> A (p.Gly79Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34995577
|
GRCh37 |
Chromosome 2, 149221327: 149221327 |
47 |
MBD5
|
NM_018328.4(MBD5): c.236G> A (p.Gly79Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34995577
|
GRCh38 |
Chromosome 2, 148463758: 148463758 |
48 |
MBD5
|
NM_018328.4(MBD5): c.2279A> G (p.His760Arg)
|
single nucleotide variant |
Uncertain significance |
rs763275881
|
GRCh37 |
Chromosome 2, 149227791: 149227791 |
49 |
MBD5
|
NM_018328.4(MBD5): c.2279A> G (p.His760Arg)
|
single nucleotide variant |
Uncertain significance |
rs763275881
|
GRCh38 |
Chromosome 2, 148470222: 148470222 |
50 |
MBD5
|
NM_018328.4(MBD5): c.796A> G (p.Ile266Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs568826753
|
GRCh37 |
Chromosome 2, 149226308: 149226308 |