1 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu) |
SNV |
Pathogenic
|
8386 |
rs74315388 |
GRCh37: 20:34021900-34021900 GRCh38: 20:35434102-35434102 |
2 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn) |
SNV |
Pathogenic
|
8388 |
rs121909347 |
GRCh37: 20:34021789-34021789 GRCh38: 20:35433991-35433991 |
3 |
LOC109461476, GDF5 |
NM_000557.5(GDF5):c.-220C>T |
SNV |
Uncertain Significance
|
338327 |
rs886056643 |
GRCh37: 20:34025928-34025928 GRCh38: 20:35438148-35438148 |
4 |
GDF5 |
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) |
SNV |
Uncertain Significance
|
895672 |
rs768978933 |
GRCh37: 20:34025483-34025483 GRCh38: 20:35437703-35437703 |
5 |
LOC109461476, GDF5 |
NM_000557.5(GDF5):c.-97T>C |
SNV |
Uncertain Significance
|
895743 |
rs960967052 |
GRCh37: 20:34025805-34025805 GRCh38: 20:35438025-35438025 |
6 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*166G>A |
SNV |
Uncertain Significance
|
338315 |
rs569761315 |
GRCh37: 20:34021541-34021541 GRCh38: 20:35433743-35433743 |
7 |
GDF5 |
NM_000557.5(GDF5):c.506C>A (p.Pro169His) |
SNV |
Uncertain Significance
|
895610 |
rs2062477372 |
GRCh37: 20:34025203-34025203 GRCh38: 20:35437423-35437423 |
8 |
GDF5 |
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) |
SNV |
Uncertain Significance
|
897084 |
rs1601074882 |
GRCh37: 20:34025527-34025527 GRCh38: 20:35437747-35437747 |
9 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) |
SNV |
Uncertain Significance
|
896867 |
rs776415223 |
GRCh37: 20:34021839-34021839 GRCh38: 20:35434041-35434041 |
10 |
GDF5 |
NM_000557.5(GDF5):c.483G>A (p.Pro161=) |
SNV |
Uncertain Significance
|
897014 |
rs752789551 |
GRCh37: 20:34025226-34025226 GRCh38: 20:35437446-35437446 |
11 |
GDF5 |
NM_000557.5(GDF5):c.57G>T (p.Leu19=) |
SNV |
Uncertain Significance
|
897561 |
rs746980493 |
GRCh37: 20:34025652-34025652 GRCh38: 20:35437872-35437872 |
12 |
GDF5 |
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) |
SNV |
Uncertain Significance
|
595155 |
rs373973964 |
GRCh37: 20:34025684-34025684 GRCh38: 20:35437904-35437904 |
13 |
LOC109461476, GDF5 |
NM_000557.5(GDF5):c.-236G>A |
SNV |
Uncertain Significance
|
898778 |
rs1190526111 |
GRCh37: 20:34025944-34025944 GRCh38: 20:35438164-35438164 |
14 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) |
SNV |
Uncertain Significance
|
895535 |
rs367914931 |
GRCh37: 20:34022146-34022146 GRCh38: 20:35434348-35434348 |
15 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) |
SNV |
Likely Benign
|
338317 |
rs748907807 |
GRCh37: 20:34022109-34022109 GRCh38: 20:35434311-35434311 |
16 |
GDF5 |
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) |
SNV |
Likely Benign
|
895673 |
rs542574339 |
GRCh37: 20:34025503-34025503 GRCh38: 20:35437723-35437723 |
17 |
GDF5 |
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) |
SNV |
Likely Benign
|
338323 |
rs199666386 |
GRCh37: 20:34025541-34025541 GRCh38: 20:35437761-35437761 |
18 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*259G>C |
SNV |
Benign
|
895466 |
rs150833046 |
GRCh37: 20:34021448-34021448 GRCh38: 20:35433650-35433650 |
19 |
GDF5 |
NM_000557.5(GDF5):c.631+6G>A |
SNV |
Benign
|
895609 |
rs768697784 |
GRCh37: 20:34025072-34025072 GRCh38: 20:35437292-35437292 |
20 |
LOC109461476, GDF5 |
NM_000557.5(GDF5):c.-134C>G |
SNV |
Benign
|
896024 |
rs144924248 |
GRCh37: 20:34025842-34025842 GRCh38: 20:35438062-35438062 |
21 |
LOC109461476, GDF5 |
NM_000557.5(GDF5):c.-39C>T |
SNV |
Benign
|
338325 |
rs149907722 |
GRCh37: 20:34025747-34025747 GRCh38: 20:35437967-35437967 |
22 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*387T>C |
SNV |
Benign
|
338312 |
rs553655935 |
GRCh37: 20:34021320-34021320 GRCh38: 20:35433522-35433522 |
23 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*335A>C |
SNV |
Benign
|
338313 |
rs73611720 |
GRCh37: 20:34021372-34021372 GRCh38: 20:35433574-35433574 |
24 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*389C>T |
SNV |
Benign
|
338311 |
rs535023630 |
GRCh37: 20:34021318-34021318 GRCh38: 20:35433520-35433520 |
25 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*193G>T |
SNV |
Benign
|
338314 |
rs114832948 |
GRCh37: 20:34021514-34021514 GRCh38: 20:35433716-35433716 |
26 |
LOC109461476, GDF5 |
NM_000557.5(GDF5):c.-48= |
SNV |
Benign
|
256712 |
rs143384 |
GRCh37: 20:34025756-34025756 GRCh38: 20:35437976-35437976 |
27 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*520T>C |
SNV |
Benign
|
338309 |
rs188252641 |
GRCh37: 20:34021187-34021187 GRCh38: 20:35433389-35433389 |
28 |
LOC109461476, GDF5 |
NM_000557.5(GDF5):c.-135G>A |
SNV |
Benign
|
338326 |
rs73094730 |
GRCh37: 20:34025843-34025843 GRCh38: 20:35438063-35438063 |
29 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*425T>C |
SNV |
Benign
|
338310 |
rs56366915 |
GRCh37: 20:34021282-34021282 GRCh38: 20:35433484-35433484 |
30 |
GDF5 |
NM_000557.5(GDF5):c.462C>A (p.Pro154=) |
SNV |
Benign
|
193119 |
rs150686636 |
GRCh37: 20:34025247-34025247 GRCh38: 20:35437467-35437467 |
31 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.*468G>A |
SNV |
Benign
|
895403 |
rs79051206 |
GRCh37: 20:34021239-34021239 GRCh38: 20:35433441-35433441 |
32 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.855C>T (p.Gly285=) |
SNV |
Benign
|
338320 |
rs149593773 |
GRCh37: 20:34022358-34022358 GRCh38: 20:35434560-35434560 |
33 |
GDF5 |
NM_000557.5(GDF5):c.652A>C (p.Arg218=) |
SNV |
Benign
|
284616 |
rs116467702 |
GRCh37: 20:34022561-34022561 GRCh38: 20:35434763-35434763 |
34 |
GDF5 |
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) |
SNV |
Benign
|
338322 |
rs151149144 |
GRCh37: 20:34025360-34025360 GRCh38: 20:35437580-35437580 |
35 |
LOC109461476, GDF5 |
NM_000557.5(GDF5):c.-275= |
SNV |
Benign
|
8390 |
rs143383 |
GRCh37: 20:34025983-34025983 GRCh38: 20:35438203-35438203 |
36 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) |
SNV |
Benign
|
338316 |
rs138130158 |
GRCh37: 20:34022085-34022085 GRCh38: 20:35434287-35434287 |
37 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.1017= (p.Lys339=) |
SNV |
Benign
|
256713 |
rs224330 |
GRCh37: 20:34022196-34022196 GRCh38: 20:35434398-35434398 |
38 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.826= (p.Ala276=) |
SNV |
Benign
|
256716 |
rs224331 |
GRCh37: 20:34022387-34022387 GRCh38: 20:35434589-35434589 |
39 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) |
SNV |
Benign
|
338319 |
rs201590447 |
GRCh37: 20:34022260-34022260 GRCh38: 20:35434462-35434462 |
40 |
GDF5 |
NM_000557.5(GDF5):c.497C>A (p.Pro166His) |
SNV |
Benign
|
338321 |
rs61754581 |
GRCh37: 20:34025212-34025212 GRCh38: 20:35437432-35437432 |
41 |
GDF5-AS1, GDF5 |
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) |
SNV |
Benign
|
338318 |
rs140895068 |
GRCh37: 20:34022213-34022213 GRCh38: 20:35434415-35434415 |