1 |
FRMD7 |
NM_194277.2(FRMD7):c.601C>T (p.Gln201Ter) |
SNV |
Pathogenic |
10782 |
rs137852207 |
X:131219653-131219653 |
X:132085625-132085625 |
2 |
FRMD7 |
NM_194277.2(FRMD7):c.1003C>T (p.Arg335Ter) |
SNV |
Pathogenic |
10783 |
rs137852208 |
X:131214081-131214081 |
X:132080053-132080053 |
3 |
FRMD7 |
FRMD7, IVS3DS, T-G, +2 |
SNV |
Pathogenic |
10784 |
|
|
|
4 |
FRMD7 |
NM_194277.2(FRMD7):c.252G>A (p.Val84=) |
SNV |
Pathogenic |
10785 |
rs137852209 |
X:131231326-131231326 |
X:132097298-132097298 |
5 |
FRMD7 |
NM_194277.2(FRMD7):c.70G>A (p.Gly24Arg) |
SNV |
Pathogenic |
10786 |
rs137852210 |
X:131234732-131234732 |
X:132100704-132100704 |
6 |
FRMD7 |
FRMD7, 3-BP DEL, 41AGA |
deletion |
Pathogenic |
10787 |
|
|
|
7 |
FRMD7 |
NM_194277.2(FRMD7):c.425T>G (p.Leu142Arg) |
SNV |
Pathogenic |
10788 |
rs137852211 |
X:131220020-131220020 |
X:132085992-132085992 |
8 |
FRMD7 |
NM_194277.2(FRMD7):c.685C>G (p.Arg229Gly) |
SNV |
Pathogenic |
10789 |
rs137852212 |
X:131218574-131218574 |
X:132084546-132084546 |
9 |
FRMD7 |
FRMD7, 2-BP DEL, 1274TG |
deletion |
Pathogenic |
10790 |
|
|
|
10 |
FRMD7 |
NM_194277.2(FRMD7):c.691T>G (p.Leu231Val) |
SNV |
Pathogenic |
29976 |
rs387906720 |
X:131218568-131218568 |
X:132084540-132084540 |
11 |
FRMD7 |
NM_194277.2(FRMD7):c.812G>A (p.Cys271Tyr) |
SNV |
Pathogenic |
29977 |
rs387906721 |
X:131216484-131216484 |
X:132082456-132082456 |
12 |
FRMD7 |
NM_194277.2(FRMD7):c.1050+5G>A |
SNV |
Pathogenic |
29978 |
|
X:131214029-131214029 |
X:132080001-132080001 |
13 |
FRMD7 |
NM_194277.2(FRMD7):c.556A>G (p.Met186Val) |
SNV |
Pathogenic |
192295 |
rs786205896 |
X:131219698-131219698 |
X:132085670-132085670 |
14 |
subset of 11 genes: FRMD7 , GPC3 |
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366) |
copy number loss |
Pathogenic |
625800 |
|
X:130280298-132670366 |
|
15 |
FRMD7 |
NM_194277.2(FRMD7):c.1588C>T (p.Pro530Ser) |
SNV |
Conflicting interpretations of pathogenicity |
712417 |
|
X:131212457-131212457 |
X:132078429-132078429 |
16 |
FRMD7 |
NM_194277.2(FRMD7):c.285-3C>T |
SNV |
Conflicting interpretations of pathogenicity |
731482 |
|
X:131228170-131228170 |
X:132094142-132094142 |
17 |
FRMD7 |
NM_001306193.1(FRMD7):c.1754G>A (p.Arg585His) |
SNV |
Uncertain significance |
912925 |
|
X:131212246-131212246 |
X:132078218-132078218 |
18 |
FRMD7 |
NM_194277.2(FRMD7):c.-102G>A |
SNV |
Uncertain significance |
367915 |
rs1057515773 |
X:131261974-131261974 |
X:132127946-132127946 |
19 |
FRMD7 |
NM_001306193.1(FRMD7):c.*300T>C |
SNV |
Uncertain significance |
912924 |
|
X:131211600-131211600 |
X:132077572-132077572 |
20 |
FRMD7 |
NM_001306193.1(FRMD7):c.1601T>A (p.Val534Glu) |
SNV |
Uncertain significance |
912926 |
|
X:131212399-131212399 |
X:132078371-132078371 |
21 |
FRMD7 |
NM_001306193.1(FRMD7):c.1436A>G (p.Gln479Arg) |
SNV |
Uncertain significance |
913295 |
|
X:131212564-131212564 |
X:132078536-132078536 |
22 |
FRMD7 |
NM_001306193.1(FRMD7):c.1155G>A (p.Ala385=) |
SNV |
Uncertain significance |
913296 |
|
X:131212845-131212845 |
X:132078817-132078817 |
23 |
FRMD7 |
NM_001306193.1(FRMD7):c.947A>G (p.Gln316Arg) |
SNV |
Uncertain significance |
914408 |
|
X:131214092-131214092 |
X:132080064-132080064 |
24 |
FRMD7 |
NM_001306193.1(FRMD7):c.673A>G (p.Ile225Val) |
SNV |
Uncertain significance |
914409 |
|
X:131218541-131218541 |
X:132084513-132084513 |
25 |
FRMD7 |
NM_001306193.1(FRMD7):c.339A>G (p.Ser113=) |
SNV |
Uncertain significance |
914410 |
|
X:131220061-131220061 |
X:132086033-132086033 |
26 |
FRMD7 |
NM_001306193.1(FRMD7):c.263A>C (p.Lys88Thr) |
SNV |
Uncertain significance |
914921 |
|
X:131228144-131228144 |
X:132094116-132094116 |
27 |
FRMD7 |
NM_001306193.1(FRMD7):c.157A>G (p.Asn53Asp) |
SNV |
Uncertain significance |
914922 |
|
X:131234645-131234645 |
X:132100617-132100617 |
28 |
FRMD7 |
NM_194277.2(FRMD7):c.*600C>G |
SNV |
Uncertain significance |
367901 |
rs750133372 |
X:131211300-131211300 |
X:132077272-132077272 |
29 |
FRMD7 |
NM_194277.2(FRMD7):c.*573G>T |
SNV |
Uncertain significance |
367902 |
rs963218129 |
X:131211327-131211327 |
X:132077299-132077299 |
30 |
FRMD7 |
NM_194277.2(FRMD7):c.*196G>C |
SNV |
Uncertain significance |
367906 |
rs1057515770 |
X:131211704-131211704 |
X:132077676-132077676 |
31 |
FRMD7 |
NM_194277.2(FRMD7):c.904A>C (p.Ser302Arg) |
SNV |
Uncertain significance |
367909 |
rs1057515771 |
X:131216392-131216392 |
X:132082364-132082364 |
32 |
FRMD7 |
NM_194277.2(FRMD7):c.458G>A (p.Cys153Tyr) |
SNV |
Uncertain significance |
367910 |
rs199857416 |
X:131219987-131219987 |
X:132085959-132085959 |
33 |
FRMD7 |
NM_194277.2(FRMD7):c.*293G>C |
SNV |
Uncertain significance |
367904 |
rs1057515769 |
X:131211607-131211607 |
X:132077579-132077579 |
34 |
FRMD7 |
NM_194277.2(FRMD7):c.*285C>T |
SNV |
Uncertain significance |
367905 |
rs766974170 |
X:131211615-131211615 |
X:132077587-132077587 |
35 |
FRMD7 |
NM_194277.2(FRMD7):c.1643A>C (p.Gln548Pro) |
SNV |
Uncertain significance |
367907 |
rs776519156 |
X:131212402-131212402 |
X:132078374-132078374 |
36 |
FRMD7 |
NM_194277.2(FRMD7):c.-100G>T |
SNV |
Uncertain significance |
367914 |
rs1057515772 |
X:131261972-131261972 |
X:132127944-132127944 |
37 |
FRMD7 |
NM_001306193.1(FRMD7):c.58-6G>A |
SNV |
Uncertain significance |
914923 |
|
X:131234750-131234750 |
X:132100722-132100722 |
38 |
FRMD7 |
NM_194277.2(FRMD7):c.-14C>T |
SNV |
Likely benign |
367913 |
rs200222913 |
X:131261886-131261886 |
X:132127858-132127858 |
39 |
FRMD7 |
NM_001306193.1(FRMD7):c.338-14T>C |
SNV |
Likely benign |
914411 |
|
X:131220076-131220076 |
X:132086048-132086048 |
40 |
FRMD7 |
NM_001306193.1(FRMD7):c.*827T>A |
SNV |
Likely benign |
914868 |
|
X:131211073-131211073 |
X:132077045-132077045 |
41 |
FRMD7 |
NM_001306193.1(FRMD7):c.*730A>G |
SNV |
Likely benign |
914869 |
|
X:131211170-131211170 |
X:132077142-132077142 |
42 |
FRMD7 |
NM_001306193.1(FRMD7):c.*685T>C |
SNV |
Likely benign |
914870 |
|
X:131211215-131211215 |
X:132077187-132077187 |
43 |
FRMD7 |
NM_194277.2(FRMD7):c.*665A>T |
SNV |
Benign |
367900 |
rs3764771 |
X:131211235-131211235 |
X:132077207-132077207 |
44 |
FRMD7 |
NM_194277.2(FRMD7):c.1558C>G (p.His520Asp) |
SNV |
Benign |
714968 |
|
X:131212487-131212487 |
X:132078459-132078459 |
45 |
FRMD7 |
NM_194277.2(FRMD7):c.1533T>C (p.Ile511=) |
SNV |
Benign |
263088 |
rs5977623 |
X:131212512-131212512 |
X:132078484-132078484 |
46 |
FRMD7 |
NM_194277.2(FRMD7):c.1403G>A (p.Arg468His) |
SNV |
Benign |
263087 |
rs6637934 |
X:131212642-131212642 |
X:132078614-132078614 |
47 |
FRMD7 |
NM_194277.2(FRMD7):c.1101T>C (p.Asn367=) |
SNV |
Benign |
263086 |
rs7051368 |
X:131212944-131212944 |
X:132078916-132078916 |
48 |
FRMD7 |
NM_194277.2(FRMD7):c.842C>T (p.Ser281Leu) |
SNV |
Benign |
263090 |
rs5977625 |
X:131216454-131216454 |
X:132082426-132082426 |
49 |
FRMD7 |
NM_194277.2(FRMD7):c.69C>T (p.Ser23=) |
SNV |
Benign |
263089 |
rs5930546 |
X:131234733-131234733 |
X:132100705-132100705 |
50 |
FRMD7 |
NM_194277.2(FRMD7):c.*816G>A |
SNV |
Benign |
367898 |
rs41312755 |
X:131211084-131211084 |
X:132077056-132077056 |