1 |
Missense_variant |
c.422G > A |
p.Cys141Tyr |
Pathogenic or likely pathogenic |
2 |
Missense_variant |
c.422G > T |
p.Cys141Phe |
Pathogenic or likely pathogenic |
3 |
Missense_variant |
c.455C > T |
p.Pro152Leu |
Pathogenic or likely pathogenic |
4 |
Missense_variant |
c.524G > A |
p.Arg175His |
Pathogenic or likely pathogenic |
5 |
Missense_variant |
c.535C > G |
p.His179Asp |
Pathogenic or likely pathogenic |
6 |
Missense_variant |
c.542G > A |
p.Arg181His |
Pathogenic or likely pathogenic |
7 |
Missense_variant |
c.659A > G |
p.Tyr220Cys |
Pathogenic or likely pathogenic |
8 |
Missense_variant |
c.659A > G |
p.Tyr220Cys |
Pathogenic or likely pathogenic |
9 |
Missense_variant |
c.701A > G |
p.Tyr234Cys |
Pathogenic or likely pathogenic |
10 |
Missense_variant |
c.725G > A |
p.Cys242Tyr |
Pathogenic or likely pathogenic |
11 |
Missense_variant |
c.734G > A |
p.Gly245Asp |
Pathogenic or likely pathogenic |
12 |
Missense_variant |
c.742C > T |
p.Arg248Trp |
Pathogenic or likely pathogenic |
13 |
Missense_variant |
c.742C > T |
p.Arg248Trp |
Pathogenic or likely pathogenic |
14 |
Missense_variant |
c.743G > A |
p.Arg248Gln |
Pathogenic or likely pathogenic |
15 |
Missense_variant |
c.772G > A |
p.Glu258Lys |
Pathogenic or likely pathogenic |
16 |
Missense_variant |
c.817C > T |
p.Arg273Cys |
Pathogenic or likely pathogenic |
17 |
Missense_variant |
c.817C > T |
p.Arg273Cys |
Pathogenic or likely pathogenic |
18 |
Missense_variant |
c.818G > A |
p.Arg273His |
Pathogenic or likely pathogenic |
19 |
Missense_variant |
c.818G > A |
p.Arg273His |
Pathogenic or likely pathogenic |
20 |
Missense_variant |
c.818G > A |
p.Arg273His |
Pathogenic or likely pathogenic |
21 |
Missense_variant |
c.380C > T |
p.Ser127Phe |
Conflicting interpretations of pathogenicity |
22 |
Missense_variant |
c.473G > C |
p.Arg158Pro |
Conflicting interpretations of pathogenicity |
23 |
Missense_variant |
c.481G > A |
p.Ala161Thr |
Conflicting interpretations of pathogenicity |
24 |
Missense_variant |
c.613T > C |
p.Tyr205His |
Conflicting interpretations of pathogenicity |
25 |
Missense_variant |
c.796G > A |
p.Gly266Arg |
Conflicting interpretations of pathogenicity |
26 |
Missense_variant |
c.796G > A |
p.Gly266Arg |
Conflicting interpretations of pathogenicity |
27 |
Missense_variant |
c.1015G > A |
p.Glu339Lys |
Conflicting interpretations of pathogenicity |
28 |
Missense_variant |
c.329G > A |
p.Arg110His |
Uncertain significance |
29 |
Missense_variant |
c.380C > A |
p.Ser127Tyr |
Uncertain significance |
30 |
Missense_variant |
c.476C > T |
p.Ala159Val |
Uncertain significance |
31 |
Missense_variant |
c.797G > T |
p.Gly266Val |
Uncertain significance |
32 |
Missense_variant |
c.400T > G |
p.Phe134Val |
Uncertain significance |
33 |
Missense_variant |
c.470T > G |
p.Val157Gly |
Uncertain significance |
34 |
Frameshift_variant |
c.331_332insAG |
p.Leu111fs |
Pathogenic or likely pathogenic |
35 |
Frameshift_variant |
c.381_391delCCCTGCCCTCA |
p.Pro128fs |
Pathogenic or likely pathogenic |
36 |
Frameshift_variant |
c.635_669delTTCGACATAGTGTGGTG GTGCCCTATGAGCCGCCT |
p.Phe212fs |
Pathogenic or likely pathogenic |
37 |
Frameshift_variant |
c.660_661delTG |
p.Tyr220fs |
Pathogenic or likely pathogenic |
38 |
Frameshift_variant |
c.747delG |
p.Arg249fs |
Pathogenic or likely pathogenic |
39 |
Frameshift_variant |
c.1169delC |
p.Pro390fs |
Pathogenic or likely pathogenic |
40 |
Frameshift_variant |
c.778_779delTC |
p.Ser260fs |
Uncertain significance |
41 |
Conservative_inframe_deletion |
c.529_546delCCCCACCATGAGCGCTGC |
p.Pro177_Cys182del |
Pathogenic or likely pathogenic |
42 |
Stop_gained |
c.159G > A |
p.Trp53* |
Pathogenic or likely pathogenic |
43 |
Stop_gained |
c.437G > A |
p.Trp146* |
Pathogenic or likely pathogenic |
44 |
Stop_gained |
c.586C > T |
p.Arg196* |
Pathogenic or likely pathogenic |
45 |
Stop_gained |
c.637C > T |
p.Arg213* |
Pathogenic or likely pathogenic |
46 |
Stop_gained |
c.1024C > T |
p.Arg342* |
Pathogenic or likely pathogenic |
47 |
Stop_gained |
c.1024C > T |
p.Arg342* |
Pathogenic or likely pathogenic |
48 |
Splice_region_variant&synonymous_variant |
c.375G > A |
p.Thr125Thr |
Pathogenic or likely pathogenic |
49 |
Splice_region_variant&synonymous_variant |
c.375G > A |
p.Thr125Thr |
Pathogenic or likely pathogenic |
50 |
Splice_region_variant&synonymous_variant |
c.375G > C |
p.Thr125Thr |
Pathogenic or likely pathogenic |
51 |
Splice_acceptor_variant&intron_variant |
c.920 - 1G > A |
|
Pathogenic or likely pathogenic |
52 |
Splice_donor_variant&intron_variant |
c.96 + 1G > A |
|
Uncertain significance (no report) |