1 |
SLC2A10 |
NC_000020.11:g.(?_46709717)_(46733854_?)del |
DEL |
Pathogenic
|
583508 |
|
GRCh37: 20:45338356-45362493 GRCh38: 20:46709717-46733854 |
2 |
SLC2A10 |
NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter) |
SNV |
Pathogenic
|
1323610 |
|
GRCh37: 20:45354160-45354160 GRCh38: 20:46725521-46725521 |
3 |
SLC2A10 |
NM_030777.4(SLC2A10):c.483del (p.Trp162fs) |
DEL |
Pathogenic
|
1392857 |
|
GRCh37: 20:45354154-45354154 GRCh38: 20:46725515-46725515 |
4 |
SLC2A10 |
NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs) |
MICROSAT |
Pathogenic
|
1454308 |
|
GRCh37: 20:45354144-45354147 GRCh38: 20:46725505-46725508 |
5 |
SLC2A10 |
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) |
SNV |
Pathogenic
|
467819 |
rs1015798796 |
GRCh37: 20:45354323-45354323 GRCh38: 20:46725684-46725684 |
6 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter) |
SNV |
Pathogenic
|
1399156 |
|
GRCh37: 20:45358004-45358004 GRCh38: 20:46729365-46729365 |
7 |
SLC2A10 |
NC_000020.11:g.(?_46709727)_(46733844_?)del |
DEL |
Pathogenic
|
833326 |
|
GRCh37: 20:45338366-45362483 GRCh38: |
8 |
EMILIN1 |
NM_007046.4(EMILIN1):c.2457_2482dup (p.Gln828fs) |
DUP |
Pathogenic
|
1343812 |
|
GRCh37: 2:27307296-27307297 GRCh38: 2:27084428-27084429 |
9 |
EMILIN1 |
NM_007046.4(EMILIN1):c.1606C>T (p.Gln536Ter) |
SNV |
Pathogenic
|
1343813 |
|
GRCh37: 2:27306045-27306045 GRCh38: 2:27083177-27083177 |
10 |
EMILIN1 |
NM_007046.4(EMILIN1):c.119dup (p.Ser40fs) |
DUP |
Pathogenic
|
1344492 |
|
GRCh37: 2:27302051-27302052 GRCh38: 2:27079183-27079184 |
11 |
EMILIN1 |
NM_007046.4(EMILIN1):c.831dup (p.Ala278fs) |
DUP |
Pathogenic
|
1527980 |
|
GRCh37: 2:27305269-27305270 GRCh38: 2:27082401-27082402 |
12 |
EMILIN1 |
NM_007046.4(EMILIN1):c.151del (p.Arg51fs) |
DEL |
Pathogenic
|
1527981 |
|
GRCh37: 2:27302079-27302079 GRCh38: 2:27079211-27079211 |
13 |
SLC2A10 |
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) |
SNV |
Pathogenic
|
4585 |
rs80358229 |
GRCh37: 20:45354185-45354185 GRCh38: 20:46725546-46725546 |
14 |
SLC2A10 |
NM_030777.4(SLC2A10):c.961del (p.Val321fs) |
DEL |
Pathogenic
|
4586 |
rs587776599 |
GRCh37: 20:45354636-45354636 GRCh38: 20:46725997-46725997 |
15 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) |
DEL |
Pathogenic
|
4587 |
rs587776600 |
GRCh37: 20:45355547-45355547 GRCh38: 20:46726908-46726908 |
16 |
SLC2A10 |
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) |
SNV |
Pathogenic
|
161096 |
rs756457861 |
GRCh37: 20:45354360-45354360 GRCh38: 20:46725721-46725721 |
17 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) |
SNV |
Pathogenic
|
161100 |
rs763220502 |
GRCh37: 20:45355523-45355523 GRCh38: 20:46726884-46726884 |
18 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) |
SNV |
Pathogenic
|
161101 |
rs370547023 |
GRCh37: 20:45355544-45355544 GRCh38: 20:46726905-46726905 |
19 |
SLC2A10 |
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) |
SNV |
Pathogenic/Likely Pathogenic
|
4588 |
rs80358230 |
GRCh37: 20:45353918-45353918 GRCh38: 20:46725279-46725279 |
20 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) |
SNV |
Pathogenic/Likely Pathogenic
|
4589 |
rs121908172 |
GRCh37: 20:45354951-45354951 GRCh38: 20:46726312-46726312 |
21 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) |
MICROSAT |
Likely Pathogenic
|
1027638 |
rs1980007276 |
GRCh37: 20:45355604-45355605 GRCh38: 20:46726965-46726966 |
22 |
SLC2A10 |
NM_030777.4(SLC2A10):c.5-2A>G |
SNV |
Likely Pathogenic
|
1468303 |
|
GRCh37: 20:45353678-45353678 GRCh38: 20:46725039-46725039 |
23 |
SLC2A10 |
NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) |
SNV |
Likely Pathogenic
|
535833 |
rs376346077 |
GRCh37: 20:45354070-45354070 GRCh38: 20:46725431-46725431 |
24 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1411+2T>A |
SNV |
Likely Pathogenic
|
213751 |
rs761721442 |
GRCh37: 20:45355627-45355627 GRCh38: 20:46726988-46726988 |
25 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1288+2T>C |
SNV |
Likely Pathogenic
|
656001 |
rs768848335 |
GRCh37: 20:45354965-45354965 GRCh38: 20:46726326-46726326 |
26 |
FLNA |
NM_001110556.2(FLNA):c.7023+4A>T |
SNV |
Likely Pathogenic
|
523406 |
rs1557175789 |
GRCh37: X:153579945-153579945 GRCh38: X:154351577-154351577 |
27 |
SLC2A10 |
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
338593 |
rs774452914 |
GRCh37: 20:45354485-45354485 GRCh38: 20:46725846-46725846 |
28 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
754340 |
rs1301992983 |
GRCh37: 20:45354707-45354707 GRCh38: 20:46726068-46726068 |
29 |
SLC2A10 |
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
415522 |
rs75218052 |
GRCh37: 20:45354274-45354274 GRCh38: 20:46725635-46725635 |
30 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
139176 |
rs117587497 |
GRCh37: 20:45358092-45358092 GRCh38: 20:46729453-46729453 |
31 |
SLC2A10 |
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
139173 |
rs148058006 |
GRCh37: 20:45354491-45354491 GRCh38: 20:46725852-46725852 |
32 |
SLC2A10 |
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
4590 |
rs121908173 |
GRCh37: 20:45354069-45354069 GRCh38: 20:46725430-46725430 |
33 |
SLC2A10 |
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
161104 |
rs767864243 |
GRCh37: 20:45353988-45353988 GRCh38: 20:46725349-46725349 |
34 |
SLC2A10 |
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
161106 |
rs146579504 |
GRCh37: 20:45354366-45354366 GRCh38: 20:46725727-46725727 |
35 |
SLC2A10 |
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
338591 |
rs199848479 |
GRCh37: 20:45354005-45354005 GRCh38: 20:46725366-46725366 |
36 |
SLC2A10 |
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
338592 |
rs748662135 |
GRCh37: 20:45354300-45354300 GRCh38: 20:46725661-46725661 |
37 |
SLC2A10 |
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
213717 |
rs142106322 |
GRCh37: 20:45354440-45354440 GRCh38: 20:46725801-46725801 |
38 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
338596 |
rs201159437 |
GRCh37: 20:45355519-45355519 GRCh38: 20:46726880-46726880 |
39 |
SLC2A10 |
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
195383 |
rs143301610 |
GRCh37: 20:45354190-45354190 GRCh38: 20:46725551-46725551 |
40 |
SLC2A10 |
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
213720 |
rs139932041 |
GRCh37: 20:45354606-45354606 GRCh38: 20:46725967-46725967 |
41 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
213737 |
rs201393026 |
GRCh37: 20:45355584-45355584 GRCh38: 20:46726945-46726945 |
42 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
415523 |
rs148470005 |
GRCh37: 20:45362452-45362452 GRCh38: 20:46733813-46733813 |
43 |
SLC2A10 |
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
213713 |
rs144095826 |
GRCh37: 20:45353992-45353992 GRCh38: 20:46725353-46725353 |
44 |
SLC2A10 |
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
380352 |
rs372596900 |
GRCh37: 20:45354636-45354636 GRCh38: 20:46725997-46725997 |
45 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
213722 |
rs200196034 |
GRCh37: 20:45354732-45354732 GRCh38: 20:46726093-46726093 |
46 |
SLC2A10 |
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
520173 |
rs371344477 |
GRCh37: 20:45354107-45354107 GRCh38: 20:46725468-46725468 |
47 |
SLC2A10 |
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
213718 |
rs181500247 |
GRCh37: 20:45354455-45354455 GRCh38: 20:46725816-46725816 |
48 |
SLC2A10 |
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) |
SNV |
Uncertain Significance
|
213748 |
rs145994112 |
GRCh37: 20:45354523-45354523 GRCh38: 20:46725884-46725884 |
49 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) |
SNV |
Uncertain Significance
|
626895 |
rs147710229 |
GRCh37: 20:45354879-45354879 GRCh38: 20:46726240-46726240 |
50 |
SLC2A10 |
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val) |
SNV |
Uncertain Significance
|
213740 |
rs754355572 |
GRCh37: 20:45358003-45358003 GRCh38: 20:46729364-46729364 |