1 |
CSRP3 |
NM_003476.5(CSRP3):c.128del (p.Ala43fs) |
deletion |
Likely pathogenic |
847161 |
|
11:19209836-19209836 |
11:19188289-19188289 |
2 |
CSRP3 |
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) |
SNV |
Conflicting interpretations of pathogenicity |
8776 |
rs45550635 |
11:19213986-19213986 |
11:19192439-19192439 |
3 |
CSRP3 |
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) |
SNV |
Conflicting interpretations of pathogenicity |
8778 |
rs104894205 |
11:19209833-19209833 |
11:19188286-19188286 |
4 |
CSRP3 |
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) |
SNV |
Conflicting interpretations of pathogenicity |
35966 |
rs193922667 |
11:19207812-19207812 |
11:19186265-19186265 |
5 |
CSRP3 |
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) |
SNV |
Conflicting interpretations of pathogenicity |
44692 |
rs45476991 |
11:19209751-19209751 |
11:19188204-19188204 |
6 |
CSRP3 |
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) |
SNV |
Conflicting interpretations of pathogenicity |
44694 |
rs138218523 |
11:19207878-19207878 |
11:19186331-19186331 |
7 |
CSRP3 |
NM_003476.5(CSRP3):c.162G>A (p.Ser54=) |
SNV |
Conflicting interpretations of pathogenicity |
137035 |
rs112848043 |
11:19209802-19209802 |
11:19188255-19188255 |
8 |
CSRP3 |
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) |
SNV |
Conflicting interpretations of pathogenicity |
163013 |
rs185980145 |
11:19213980-19213980 |
11:19192433-19192433 |
9 |
CSRP3 |
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) |
SNV |
Conflicting interpretations of pathogenicity |
163007 |
rs142019584 |
11:19204266-19204266 |
11:19182719-19182719 |
10 |
CSRP3 |
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) |
SNV |
Conflicting interpretations of pathogenicity |
219444 |
rs761507504 |
11:19206558-19206558 |
11:19185011-19185011 |
11 |
CSRP3 |
NM_003476.5(CSRP3):c.174C>T (p.Cys58=) |
SNV |
Conflicting interpretations of pathogenicity |
381101 |
rs1057520959 |
11:19209790-19209790 |
11:19188243-19188243 |
12 |
CSRP3 |
NM_003476.5(CSRP3):c.112+1G>A |
SNV |
Uncertain significance |
222534 |
rs746990436 |
11:19213883-19213883 |
11:19192336-19192336 |
13 |
CSRP3 |
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) |
SNV |
Uncertain significance |
228543 |
rs876657767 |
11:19207823-19207823 |
11:19186276-19186276 |
14 |
CSRP3 |
NM_003476.5(CSRP3):c.452G>A (p.Gly151Glu) |
SNV |
Uncertain significance |
239543 |
rs878854613 |
11:19206555-19206555 |
11:19185008-19185008 |
15 |
CSRP3 |
NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys) |
SNV |
Uncertain significance |
239542 |
rs763096875 |
11:19207825-19207825 |
11:19186278-19186278 |
16 |
CSRP3 |
NM_003476.5(CSRP3):c.269T>C (p.Leu90Pro) |
SNV |
Uncertain significance |
239541 |
rs760832923 |
11:19209695-19209695 |
11:19188148-19188148 |
17 |
CSRP3 |
NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys) |
SNV |
Uncertain significance |
239540 |
rs780917755 |
11:19209708-19209708 |
11:19188161-19188161 |
18 |
CSRP3 |
NM_003476.5(CSRP3):c.537G>A (p.Thr179=) |
SNV |
Uncertain significance |
303951 |
rs886048096 |
11:19204265-19204265 |
11:19182718-19182718 |
19 |
CSRP3 |
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu) |
SNV |
Uncertain significance |
303954 |
rs746707959 |
11:19207875-19207875 |
11:19186328-19186328 |
20 |
CSRP3 |
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg) |
SNV |
Uncertain significance |
201695 |
rs111868331 |
11:19204258-19204258 |
11:19182711-19182711 |
21 |
CSRP3 |
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn) |
SNV |
Uncertain significance |
201692 |
rs372717179 |
11:19213910-19213910 |
11:19192363-19192363 |
22 |
CSRP3 |
NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter) |
SNV |
Uncertain significance |
216572 |
rs863224716 |
11:19207840-19207840 |
11:19186293-19186293 |
23 |
CSRP3 |
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) |
SNV |
Uncertain significance |
163009 |
rs377066670 |
11:19206570-19206570 |
11:19185023-19185023 |
24 |
CSRP3 |
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu) |
SNV |
Uncertain significance |
178014 |
rs727504436 |
11:19209692-19209692 |
11:19188145-19188145 |
25 |
CSRP3 |
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) |
SNV |
Uncertain significance |
44697 |
rs149201422 |
11:19207798-19207798 |
11:19186251-19186251 |
26 |
CSRP3 |
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) |
SNV |
Uncertain significance |
44701 |
rs397516859 |
11:19204267-19204267 |
11:19182720-19182720 |
27 |
CSRP3 |
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr) |
SNV |
Uncertain significance |
44687 |
rs145300736 |
11:19209816-19209816 |
11:19188269-19188269 |
28 |
CSRP3 |
NM_003476.5(CSRP3):c.532C>T (p.Pro178Ser) |
SNV |
Uncertain significance |
543039 |
rs749002955 |
11:19204270-19204270 |
11:19182723-19182723 |
29 |
CSRP3 |
NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln) |
SNV |
Uncertain significance |
543037 |
rs777883490 |
11:19213956-19213956 |
11:19192409-19192409 |
30 |
CSRP3 |
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) |
SNV |
Uncertain significance |
8780 |
rs137852764 |
11:19209758-19209758 |
11:19188211-19188211 |
31 |
CSRP3 |
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) |
SNV |
Uncertain significance |
8781 |
rs137852765 |
11:19209828-19209828 |
11:19188281-19188281 |
32 |
CSRP3 |
NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser) |
SNV |
Uncertain significance |
835944 |
|
11:19209837-19209837 |
11:19188290-19188290 |
33 |
CSRP3 |
NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu) |
SNV |
Uncertain significance |
859311 |
|
11:19213979-19213979 |
11:19192432-19192432 |
34 |
CSRP3 |
NM_003476.5(CSRP3):c.415-1G>A |
SNV |
Uncertain significance |
834445 |
|
11:19206593-19206593 |
11:19185046-19185046 |
35 |
CSRP3 |
NC_000011.10:g.(?_19184942)_(19188314_?)del |
deletion |
Uncertain significance |
831881 |
|
11:19206489-19209861 |
|
36 |
CSRP3 |
NM_003476.5(CSRP3):c.518C>T (p.Ala173Val) |
SNV |
Uncertain significance |
842508 |
|
11:19204284-19204284 |
11:19182737-19182737 |
37 |
CSRP3 |
NM_003476.5(CSRP3):c.514T>C (p.Tyr172His) |
SNV |
Uncertain significance |
836572 |
|
11:19204288-19204288 |
11:19182741-19182741 |
38 |
CSRP3 |
NM_003476.5(CSRP3):c.455_456AG[1] (p.Leu154fs) |
short repeat |
Uncertain significance |
855956 |
|
11:19206549-19206550 |
11:19185002-19185003 |
39 |
CSRP3 |
NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe) |
SNV |
Uncertain significance |
846160 |
|
11:19206562-19206562 |
11:19185015-19185015 |
40 |
CSRP3 |
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) |
SNV |
Uncertain significance |
836666 |
|
11:19207808-19207808 |
11:19186261-19186261 |
41 |
CSRP3 |
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) |
SNV |
Uncertain significance |
851709 |
|
11:19207879-19207879 |
11:19186332-19186332 |
42 |
CSRP3 |
NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser) |
SNV |
Uncertain significance |
858415 |
|
11:19207891-19207891 |
11:19186344-19186344 |
43 |
CSRP3 |
NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe) |
SNV |
Uncertain significance |
863545 |
|
11:19207893-19207893 |
11:19186346-19186346 |
44 |
CSRP3 |
NM_003476.5(CSRP3):c.228C>T (p.Gly76=) |
SNV |
Uncertain significance |
861575 |
|
11:19209736-19209736 |
11:19188189-19188189 |
45 |
CSRP3 |
NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr) |
SNV |
Uncertain significance |
404174 |
rs45531937 |
11:19213974-19213974 |
11:19192427-19192427 |
46 |
CSRP3 |
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu) |
SNV |
Uncertain significance |
423356 |
rs769003538 |
11:19209789-19209789 |
11:19188242-19188242 |
47 |
CSRP3 |
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) |
SNV |
Uncertain significance |
426380 |
rs376198883 |
11:19206571-19206571 |
11:19185024-19185024 |
48 |
CSRP3 |
NM_003476.5(CSRP3):c.524dup (p.Asn175fs) |
duplication |
Uncertain significance |
476576 |
rs1554967256 |
11:19204277-19204278 |
11:19182730-19182731 |
49 |
CSRP3 |
NM_003476.5(CSRP3):c.461T>G (p.Leu154Arg) |
SNV |
Uncertain significance |
476575 |
rs1554967431 |
11:19206546-19206546 |
11:19184999-19184999 |
50 |
CSRP3 |
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met) |
SNV |
Uncertain significance |
476571 |
rs777327517 |
11:19209713-19209713 |
11:19188166-19188166 |