1 |
LRP5 |
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) |
DUP |
Pathogenic
|
287187 |
rs886043590 |
GRCh37: 11:68181389-68181390 GRCh38: 11:68413921-68413922 |
2 |
LRP5 |
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) |
SNV |
Likely Pathogenic
|
915421 |
rs2098630548 |
GRCh37: 11:68133072-68133072 GRCh38: 11:68365604-68365604 |
3 |
LRP5 |
NM_002335.4(LRP5):c.4397del (p.Gly1466fs) |
DEL |
Likely Pathogenic
|
1687478 |
|
GRCh37: 11:68207288-68207288 GRCh38: 11:68439820-68439820 |
4 |
LRP5 |
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) |
SNV |
Likely Pathogenic
|
982389 |
rs761131376 |
GRCh37: 11:68154038-68154038 GRCh38: 11:68386570-68386570 |
5 |
LRP5 |
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) |
SNV |
Likely Pathogenic
|
1179140 |
|
GRCh37: 11:68181208-68181208 GRCh38: 11:68413740-68413740 |
6 |
LRP5 |
NM_002335.4(LRP5):c.424_436del (p.Arg142fs) |
DEL |
Likely Pathogenic
|
1705512 |
|
GRCh37: 11:68115647-68115659 GRCh38: 11:68348179-68348191 |
7 |
LRP5 |
NM_002335.4(LRP5):c.2254C>T (p.Arg752Trp) |
SNV |
Likely Pathogenic
|
1184509 |
|
GRCh37: 11:68177544-68177544 GRCh38: 11:68410076-68410076 |
8 |
LRP5 |
NM_002335.4(LRP5):c.3914G>A (p.Cys1305Tyr) |
SNV |
Likely Pathogenic
|
1184510 |
|
GRCh37: 11:68201220-68201220 GRCh38: 11:68433752-68433752 |
9 |
LRP5 |
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) |
SNV |
Uncertain Significance
|
623782 |
rs184945579 |
GRCh37: 11:68153789-68153789 GRCh38: 11:68386321-68386321 |
10 |
LRP5 |
NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) |
SNV |
Uncertain Significance
|
225407 |
rs80358317 |
GRCh37: 11:68192694-68192694 GRCh38: 11:68425226-68425226 |
11 |
LRP5 |
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) |
SNV |
Uncertain Significance
|
183255 |
rs61889560 |
GRCh37: 11:68191036-68191036 GRCh38: 11:68423568-68423568 |
12 |
LRP5 |
NM_002335.4(LRP5):c.1385G>A (p.Arg462Gln) |
SNV |
Uncertain Significance
|
1526384 |
|
GRCh37: 11:68154153-68154153 GRCh38: 11:68386685-68386685 |
13 |
LRP5 |
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe) |
SNV |
Uncertain Significance
|
498449 |
rs147618989 |
GRCh37: 11:68216333-68216333 GRCh38: 11:68448865-68448865 |
14 |
LRP5 |
NM_002335.4(LRP5):c.1589T>C (p.Ile530Thr) |
SNV |
Uncertain Significance
|
1705431 |
|
GRCh37: 11:68170955-68170955 GRCh38: 11:68403487-68403487 |
15 |
LRP5 |
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) |
SNV |
Uncertain Significance
|
520692 |
rs201320326 |
GRCh37: 11:68153967-68153967 GRCh38: 11:68386499-68386499 |
16 |
LRP5 |
NM_002335.4(LRP5):c.883+20C>T |
SNV |
Uncertain Significance
|
930443 |
rs761245318 |
GRCh37: 11:68131431-68131431 GRCh38: 11:68363963-68363963 |
17 |
LRP5 |
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) |
SNV |
Uncertain Significance
|
1491932 |
|
GRCh37: 11:68179016-68179016 GRCh38: 11:68411548-68411548 |
18 |
LRP5 |
NM_002335.4(LRP5):c.4488G>A (p.Pro1496=) |
SNV |
Uncertain Significance
|
635003 |
rs1565118560 |
GRCh37: 11:68207384-68207384 GRCh38: 11:68439916-68439916 |
19 |
LRP5 |
NM_002335.4(LRP5):c.2581A>T (p.Thr861Ser) |
SNV |
Uncertain Significance
|
930787 |
rs2098660901 |
GRCh37: 11:68181234-68181234 GRCh38: 11:68413766-68413766 |
20 |
LRP5 |
NM_002335.4(LRP5):c.4328C>A (p.Ser1443Tyr) |
SNV |
Uncertain Significance
|
931357 |
rs926919882 |
GRCh37: 11:68206130-68206130 GRCh38: 11:68438662-68438662 |
21 |
LRP5 |
NM_002335.4(LRP5):c.4349-8C>A |
SNV |
Not Provided
|
1339809 |
|
GRCh37: 11:68207237-68207237 GRCh38: 11:68439769-68439769 |
22 |
LRP5 |
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser) |
SNV |
Not Provided
|
1019709 |
rs1182722973 |
GRCh37: 11:68213998-68213998 GRCh38: 11:68446530-68446530 |