1 |
SHOC2 |
NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr) |
INDEL |
Pathogenic
|
973849 |
rs1848064627 |
GRCh37: 10:112745489-112745490 GRCh38: 10:110985731-110985732 |
2 |
SHOC2 |
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) |
SNV |
Pathogenic
Pathogenic
|
6821 |
rs267607048 |
GRCh37: 10:112724120-112724120 GRCh38: 10:110964362-110964362 |
3 |
SHOC2 |
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) |
SNV |
Pathogenic
|
181528 |
rs730881020 |
GRCh37: 10:112724635-112724635 GRCh38: 10:110964877-110964877 |
4 |
SHOC2 |
NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg) |
SNV |
Likely Pathogenic
|
1339314 |
|
GRCh37: 10:112724273-112724273 GRCh38: 10:110964515-110964515 |
5 |
SHOC2 |
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) |
SNV |
Likely Pathogenic
|
218698 |
rs864309599 |
GRCh37: 10:112745488-112745488 GRCh38: 10:110985730-110985730 |
6 |
SHOC2 |
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) |
SNV |
Likely Pathogenic
Conflicting Interpretations Of Pathogenicity
|
373090 |
rs1057518206 |
GRCh37: 10:112724633-112724633 GRCh38: 10:110964875-110964875 |
7 |
SHOC2 |
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
976139 |
rs995403413 |
GRCh37: 10:112769487-112769487 GRCh38: 10:111009729-111009729 |
8 |
SHOC2 |
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) |
SNV |
Uncertain Significance
|
181527 |
rs147068827 |
GRCh37: 10:112724471-112724471 GRCh38: 10:110964713-110964713 |
9 |
SHOC2 |
NM_007373.3(SHOC2):c.-346T>G |
SNV |
Uncertain Significance
|
880483 |
rs1203298501 |
GRCh37: 10:112679304-112679304 GRCh38: 10:110919546-110919546 |
10 |
SHOC2 |
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) |
SNV |
Uncertain Significance
|
179760 |
rs536611911 |
GRCh37: 10:112724286-112724286 GRCh38: 10:110964528-110964528 |
11 |
SHOC2 |
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) |
SNV |
Uncertain Significance
|
40637 |
rs730881019 |
GRCh37: 10:112724190-112724190 GRCh38: 10:110964432-110964432 |
12 |
SHOC2 |
NM_007373.4(SHOC2):c.1422+9_1422+11del |
DEL |
Uncertain Significance
|
298864 |
rs750754038 |
GRCh37: 10:112769150-112769152 GRCh38: 10:111009392-111009394 |
13 |
SHOC2 |
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) |
SNV |
Uncertain Significance
|
1696502 |
|
GRCh37: 10:112745415-112745415 GRCh38: 10:110985657-110985657 |
14 |
SHOC2 |
NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs) |
INDEL |
Uncertain Significance
|
1030214 |
rs1847643137 |
GRCh37: 10:112724622-112724623 GRCh38: 10:110964864-110964865 |
15 |
SHOC2 |
NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile) |
SNV |
Uncertain Significance
|
1030215 |
rs1848065186 |
GRCh37: 10:112745518-112745518 GRCh38: 10:110985760-110985760 |
16 |
SHOC2 |
NM_007373.4(SHOC2):c.*685C>T |
SNV |
Uncertain Significance
|
879705 |
rs749942762 |
GRCh37: 10:112772261-112772261 GRCh38: 10:111012503-111012503 |
17 |
SHOC2 |
NM_007373.4(SHOC2):c.*825G>A |
SNV |
Uncertain Significance
|
879706 |
rs921664394 |
GRCh37: 10:112772401-112772401 GRCh38: 10:111012643-111012643 |
18 |
SHOC2 |
NM_007373.4(SHOC2):c.-264A>T |
SNV |
Uncertain Significance
|
880484 |
rs1367943420 |
GRCh37: 10:112679386-112679386 GRCh38: 10:110919628-110919628 |
19 |
SHOC2 |
NM_007373.4(SHOC2):c.-259G>A |
SNV |
Uncertain Significance
|
880485 |
rs138612584 |
GRCh37: 10:112679391-112679391 GRCh38: 10:110919633-110919633 |
20 |
SHOC2 |
NM_007373.4(SHOC2):c.1284+15G>A |
SNV |
Uncertain Significance
|
298863 |
rs770745229 |
GRCh37: 10:112767426-112767426 GRCh38: 10:111007668-111007668 |
21 |
SHOC2 |
NM_007373.4(SHOC2):c.*404A>G |
SNV |
Uncertain Significance
|
298866 |
rs539394184 |
GRCh37: 10:112771980-112771980 GRCh38: 10:111012222-111012222 |
22 |
SHOC2 |
NM_007373.4(SHOC2):c.*1486dup |
DUP |
Uncertain Significance
|
298883 |
rs549502834 |
GRCh37: 10:112773061-112773062 GRCh38: 10:111013303-111013304 |
23 |
SHOC2 |
NM_007373.4(SHOC2):c.*614T>G |
SNV |
Uncertain Significance
|
298869 |
rs886046732 |
GRCh37: 10:112772190-112772190 GRCh38: 10:111012432-111012432 |
24 |
SHOC2 |
NM_007373.4(SHOC2):c.774A>G (p.Gly258=) |
SNV |
Uncertain Significance
|
298862 |
rs753237615 |
GRCh37: 10:112745456-112745456 GRCh38: 10:110985698-110985698 |
25 |
SHOC2 |
NM_007373.4(SHOC2):c.*958C>A |
SNV |
Uncertain Significance
|
298875 |
rs372493479 |
GRCh37: 10:112772534-112772534 GRCh38: 10:111012776-111012776 |
26 |
SHOC2 |
NM_007373.4(SHOC2):c.*1218C>T |
SNV |
Uncertain Significance
|
298878 |
rs886046735 |
GRCh37: 10:112772794-112772794 GRCh38: 10:111013036-111013036 |
27 |
SHOC2 |
NM_007373.4(SHOC2):c.*1324G>A |
SNV |
Uncertain Significance
|
298881 |
rs559572636 |
GRCh37: 10:112772900-112772900 GRCh38: 10:111013142-111013142 |
28 |
SHOC2 |
NM_007373.4(SHOC2):c.*1575A>G |
SNV |
Uncertain Significance
|
298887 |
rs886046736 |
GRCh37: 10:112773151-112773151 GRCh38: 10:111013393-111013393 |
29 |
SHOC2 |
NM_007373.4(SHOC2):c.701T>C (p.Ile234Thr) |
SNV |
Uncertain Significance
|
298860 |
rs751292868 |
GRCh37: 10:112724817-112724817 GRCh38: 10:110965059-110965059 |
30 |
SHOC2 |
NM_007373.4(SHOC2):c.*625del |
DEL |
Uncertain Significance
|
298870 |
rs886046733 |
GRCh37: 10:112772192-112772192 GRCh38: 10:111012434-111012434 |
31 |
SHOC2 |
NM_007373.4(SHOC2):c.*1245T>C |
SNV |
Uncertain Significance
|
298879 |
rs754913685 |
GRCh37: 10:112772821-112772821 GRCh38: 10:111013063-111013063 |
32 |
SHOC2 |
NM_007373.4(SHOC2):c.*1487G>T |
SNV |
Uncertain Significance
|
298885 |
rs7074770 |
GRCh37: 10:112773063-112773063 GRCh38: 10:111013305-111013305 |
33 |
SHOC2 |
NM_007373.4(SHOC2):c.-254C>T |
SNV |
Uncertain Significance
|
298859 |
rs886046728 |
GRCh37: 10:112679396-112679396 GRCh38: 10:110919638-110919638 |
34 |
SHOC2 |
NM_007373.4(SHOC2):c.*656C>G |
SNV |
Uncertain Significance
|
298871 |
rs557334390 |
GRCh37: 10:112772232-112772232 GRCh38: 10:111012474-111012474 |
35 |
SHOC2 |
NM_007373.4(SHOC2):c.*518T>C |
SNV |
Uncertain Significance
|
298868 |
rs886046731 |
GRCh37: 10:112772094-112772094 GRCh38: 10:111012336-111012336 |
36 |
SHOC2 |
NM_007373.4(SHOC2):c.-244G>T |
SNV |
Uncertain Significance
|
139105 |
rs192673935 |
GRCh37: 10:112679406-112679406 GRCh38: 10:110919648-110919648 |
37 |
SHOC2 |
NM_007373.4(SHOC2):c.-235+15A>G |
SNV |
Uncertain Significance
|
877713 |
rs1309762163 |
GRCh37: 10:112679430-112679430 GRCh38: 10:110919672-110919672 |
38 |
SHOC2 |
NM_007373.4(SHOC2):c.-114C>G |
SNV |
Uncertain Significance
|
40633 |
rs1057217316 |
GRCh37: 10:112724003-112724003 GRCh38: 10:110964245-110964245 |
39 |
SHOC2 |
NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr) |
SNV |
Uncertain Significance
|
496406 |
rs1381863749 |
GRCh37: 10:112724148-112724148 GRCh38: 10:110964390-110964390 |
40 |
SHOC2 |
NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg) |
SNV |
Uncertain Significance
|
877714 |
rs1847632082 |
GRCh37: 10:112724172-112724172 GRCh38: 10:110964414-110964414 |
41 |
SHOC2 |
NM_007373.4(SHOC2):c.*979C>T |
SNV |
Uncertain Significance
|
877760 |
rs994617323 |
GRCh37: 10:112772555-112772555 GRCh38: 10:111012797-111012797 |
42 |
SHOC2 |
NM_007373.4(SHOC2):c.*990T>G |
SNV |
Uncertain Significance
|
877761 |
rs1274288913 |
GRCh37: 10:112772566-112772566 GRCh38: 10:111012808-111012808 |
43 |
SHOC2 |
NM_007373.4(SHOC2):c.*1269A>G |
SNV |
Uncertain Significance
|
877762 |
rs772654155 |
GRCh37: 10:112772845-112772845 GRCh38: 10:111013087-111013087 |
44 |
SHOC2 |
NM_007373.4(SHOC2):c.*1381G>C |
SNV |
Uncertain Significance
|
878792 |
rs997392575 |
GRCh37: 10:112772957-112772957 GRCh38: 10:111013199-111013199 |
45 |
SHOC2 |
NM_007373.4(SHOC2):c.*1508G>T |
SNV |
Uncertain Significance
|
878793 |
rs202206864 |
GRCh37: 10:112773084-112773084 GRCh38: 10:111013326-111013326 |
46 |
SHOC2 |
NM_007373.4(SHOC2):c.*1775del |
DEL |
Likely Benign
|
298888 |
rs527775221 |
GRCh37: 10:112773342-112773342 GRCh38: 10:111013584-111013584 |
47 |
SHOC2 |
NM_007373.4(SHOC2):c.*506_*509del |
DEL |
Likely Benign
|
298867 |
rs371679867 |
GRCh37: 10:112772082-112772085 GRCh38: 10:111012324-111012327 |
48 |
SHOC2 |
NM_007373.4(SHOC2):c.*1062dup |
DUP |
Likely Benign
|
298876 |
rs530047047 |
GRCh37: 10:112772637-112772638 GRCh38: 10:111012879-111012880 |
49 |
SHOC2 |
NM_007373.4(SHOC2):c.703+15ATT[3] |
MICROSAT |
Likely Benign
|
298861 |
rs370351651 |
GRCh37: 10:112724834-112724836 GRCh38: 10:110965076-110965078 |
50 |
SHOC2 |
NM_007373.4(SHOC2):c.1215A>G (p.Val405=) |
SNV |
Likely Benign
|
878756 |
rs749123957 |
GRCh37: 10:112767342-112767342 GRCh38: 10:111007584-111007584 |