1 |
LRP4 |
NM_002334.4(LRP4):c.1585G>A (p.Asp529Asn) |
SNV |
Pathogenic
|
5686 |
rs267607220 |
GRCh37: 11:46914636-46914636 GRCh38: 11:46893085-46893085 |
2 |
LRP4 |
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) |
SNV |
Pathogenic
|
5687 |
rs267607222 |
GRCh37: 11:46921435-46921435 GRCh38: 11:46899884-46899884 |
3 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.4959C>G (p.Gly1653=) |
SNV |
Pathogenic
|
5688 |
|
GRCh37: 11:46889658-46889658 GRCh38: 11:46868107-46868107 |
4 |
LRP4 |
NM_002334.4(LRP4):c.479G>A (p.Cys160Tyr) |
SNV |
Pathogenic
|
5690 |
rs267607221 |
GRCh37: 11:46921006-46921006 GRCh38: 11:46899455-46899455 |
5 |
LRP4 |
NM_002334.4(LRP4):c.1345G>A (p.Asp449Asn) |
SNV |
Pathogenic
|
5691 |
rs267607224 |
GRCh37: 11:46916335-46916335 GRCh38: 11:46894784-46894784 |
6 |
LRP4 |
NM_002334.4(LRP4):c.1381A>C (p.Thr461Pro) |
SNV |
Pathogenic
|
5692 |
rs267607223 |
GRCh37: 11:46916299-46916299 GRCh38: 11:46894748-46894748 |
7 |
LRP4 |
NM_002334.4(LRP4):c.200-9G>A |
SNV |
Pathogenic
|
5693 |
rs1565801326 |
GRCh37: 11:46921938-46921938 GRCh38: 11:46900387-46900387 |
8 |
LRP4 |
NM_002334.4(LRP4):c.316+1G>A |
SNV |
Pathogenic
|
428601 |
rs780336679 |
GRCh37: 11:46921812-46921812 GRCh38: 11:46900261-46900261 |
9 |
LRP4 |
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter) |
SNV |
Pathogenic
|
1393202 |
|
GRCh37: 11:46908040-46908040 GRCh38: 11:46886489-46886489 |
10 |
LRP4 |
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) |
SNV |
Pathogenic
|
576661 |
rs1565785959 |
GRCh37: 11:46900815-46900815 GRCh38: 11:46879264-46879264 |
11 |
LRP4 |
NM_002334.4(LRP4):c.547+1G>A |
SNV |
Pathogenic
Likely Pathogenic
|
5689 |
rs762425885 |
GRCh37: 11:46920937-46920937 GRCh38: 11:46899386-46899386 |
12 |
LRP4 |
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys) |
SNV |
Likely Pathogenic
|
982961 |
rs1941393359 |
GRCh37: 11:46911849-46911849 GRCh38: 11:46890298-46890298 |
13 |
LRP4 |
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) |
SNV |
Likely Pathogenic
|
1179057 |
|
GRCh37: 11:46914661-46914661 GRCh38: 11:46893110-46893110 |
14 |
LRP4 |
NM_002334.4(LRP4):c.1184-1G>A |
SNV |
Likely Pathogenic
|
1179202 |
|
GRCh37: 11:46916843-46916843 GRCh38: 11:46895292-46895292 |
15 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) |
SNV |
Conflicting Interpretations Of Pathogenicity
Likely Benign
|
282957 |
rs149082597 |
GRCh37: 11:46880592-46880592 GRCh38: 11:46859041-46859041 |
16 |
LRP4 |
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
304870 |
rs886048351 |
GRCh37: 11:46898081-46898081 GRCh38: 11:46876530-46876530 |
17 |
LRP4 |
NM_002334.4(LRP4):c.1832G>A (p.Arg611His) |
SNV |
Uncertain Significance
|
650564 |
rs140282454 |
GRCh37: 11:46911911-46911911 GRCh38: 11:46890360-46890360 |
18 |
LRP4 |
NM_002334.4(LRP4):c.1048+7G>T |
SNV |
Uncertain Significance
Likely Benign
|
288216 |
rs148557097 |
GRCh37: 11:46917754-46917754 GRCh38: 11:46896203-46896203 |
19 |
LRP4 |
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) |
SNV |
Uncertain Significance
Uncertain Significance
|
806670 |
rs141565454 |
GRCh37: 11:46900521-46900521 GRCh38: 11:46878970-46878970 |
20 |
LRP4 |
NM_002334.4(LRP4):c.639C>T (p.Asp213=) |
SNV |
Uncertain Significance
Likely Benign
|
281776 |
rs144974139 |
GRCh37: 11:46920492-46920492 GRCh38: 11:46898941-46898941 |
21 |
LRP4 |
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) |
SNV |
Uncertain Significance
Benign
|
194206 |
rs150777198 |
GRCh37: 11:46914670-46914670 GRCh38: 11:46893119-46893119 |
22 |
LRP4 |
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) |
SNV |
Uncertain Significance
Likely Benign
|
772181 |
rs146501212 |
GRCh37: 11:46916189-46916189 GRCh38: 11:46894638-46894638 |
23 |
LRP4 |
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) |
SNV |
Uncertain Significance
|
872376 |
rs774275092 |
GRCh37: 11:46896397-46896397 GRCh38: 11:46874846-46874846 |
24 |
LRP4 |
NM_002334.4(LRP4):c.560C>T (p.Pro187Leu) |
SNV |
Uncertain Significance
|
1713493 |
|
GRCh37: 11:46920571-46920571 GRCh38: 11:46899020-46899020 |
25 |
LRP4 |
NM_002334.4(LRP4):c.2201A>C (p.His734Pro) |
SNV |
Uncertain Significance
|
1713966 |
|
GRCh37: 11:46910976-46910976 GRCh38: 11:46889425-46889425 |
26 |
LRP4 |
NM_002334.4(LRP4):c.274G>C (p.Gly92Arg) |
SNV |
Uncertain Significance
|
1716616 |
|
GRCh37: 11:46921855-46921855 GRCh38: 11:46900304-46900304 |
27 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu) |
SNV |
Uncertain Significance
|
1713599 |
|
GRCh37: 11:46880675-46880675 GRCh38: 11:46859124-46859124 |
28 |
LRP4 |
NM_002334.3(LRP4):c.-193C>G |
SNV |
Uncertain Significance
|
304910 |
rs886048360 |
GRCh37: 11:46940123-46940123 GRCh38: 11:46918572-46918572 |
29 |
LRP4 |
NM_002334.3(LRP4):c.-174G>A |
SNV |
Uncertain Significance
|
877192 |
rs1331428298 |
GRCh37: 11:46940104-46940104 GRCh38: 11:46918553-46918553 |
30 |
LRP4 |
NM_002334.3(LRP4):c.-193C>A |
SNV |
Uncertain Significance
|
877193 |
rs886048360 |
GRCh37: 11:46940123-46940123 GRCh38: 11:46918572-46918572 |
31 |
LRP4 |
NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr) |
SNV |
Uncertain Significance
|
1413120 |
|
GRCh37: 11:46903309-46903309 GRCh38: 11:46881758-46881758 |
32 |
LRP4 |
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe) |
SNV |
Uncertain Significance
|
1428884 |
|
GRCh37: 11:46911517-46911517 GRCh38: 11:46889966-46889966 |
33 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His) |
SNV |
Uncertain Significance
|
1430528 |
|
GRCh37: 11:46884180-46884180 GRCh38: 11:46862629-46862629 |
34 |
LRP4 |
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile) |
SNV |
Uncertain Significance
|
1462963 |
|
GRCh37: 11:46898886-46898886 GRCh38: 11:46877335-46877335 |
35 |
LRP4 |
NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile) |
SNV |
Uncertain Significance
|
1437448 |
|
GRCh37: 11:46897503-46897503 GRCh38: 11:46875952-46875952 |
36 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) |
SNV |
Uncertain Significance
Likely Benign
|
304852 |
rs150734530 |
GRCh37: 11:46890179-46890179 GRCh38: 11:46868628-46868628 |
37 |
LRP4 |
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) |
SNV |
Uncertain Significance
Uncertain Significance
|
304866 |
rs145422541 |
GRCh37: 11:46897180-46897180 GRCh38: 11:46875629-46875629 |
38 |
LRP4 |
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) |
SNV |
Uncertain Significance
Likely Benign
|
304879 |
rs886048354 |
GRCh37: 11:46907975-46907975 GRCh38: 11:46886424-46886424 |
39 |
LRP4 |
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) |
SNV |
Uncertain Significance
Uncertain Significance
|
304888 |
rs143207358 |
GRCh37: 11:46916245-46916245 GRCh38: 11:46894694-46894694 |
40 |
LRP4 |
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) |
SNV |
Uncertain Significance
|
467788 |
rs771126504 |
GRCh37: 11:46897013-46897013 GRCh38: 11:46875462-46875462 |
41 |
LRP4 |
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) |
SNV |
Uncertain Significance
|
467785 |
rs762837686 |
GRCh37: 11:46921830-46921830 GRCh38: 11:46900279-46900279 |
42 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) |
SNV |
Uncertain Significance
|
467790 |
rs200506943 |
GRCh37: 11:46894729-46894729 GRCh38: 11:46873178-46873178 |
43 |
LRP4 |
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) |
SNV |
Uncertain Significance
Uncertain Significance
|
304887 |
rs749530671 |
GRCh37: 11:46916200-46916200 GRCh38: 11:46894649-46894649 |
44 |
LRP4 |
NM_002334.4(LRP4):c.282C>T (p.Asn94=) |
SNV |
Uncertain Significance
Likely Benign
|
304903 |
rs17848224 |
GRCh37: 11:46921847-46921847 GRCh38: 11:46900296-46900296 |
45 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) |
SNV |
Uncertain Significance
Uncertain Significance
|
304845 |
rs377204138 |
GRCh37: 11:46880602-46880602 GRCh38: 11:46859051-46859051 |
46 |
LRP4 |
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) |
SNV |
Uncertain Significance
Likely Benign
|
304873 |
rs61742871 |
GRCh37: 11:46900530-46900530 GRCh38: 11:46878979-46878979 |
47 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) |
SNV |
Uncertain Significance
Likely Benign
|
304848 |
rs541585714 |
GRCh37: 11:46884212-46884212 GRCh38: 11:46862661-46862661 |
48 |
LRP4 |
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) |
SNV |
Uncertain Significance
Uncertain Significance
|
304882 |
rs149435615 |
GRCh37: 11:46911974-46911974 GRCh38: 11:46890423-46890423 |
49 |
LRP4 |
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) |
SNV |
Uncertain Significance
Likely Benign
|
286738 |
rs151234321 |
GRCh37: 11:46897434-46897434 GRCh38: 11:46875883-46875883 |
50 |
LRP4, LRP4-AS1 |
NM_002334.4(LRP4):c.5520T>C (p.His1840=) |
SNV |
Uncertain Significance
Likely Benign
|
304846 |
rs144350829 |
GRCh37: 11:46880732-46880732 GRCh38: 11:46859181-46859181 |