1 |
GFM1 |
NM_024996.5(GFM1):c.689+908G>A |
SNV |
Likely pathogenic |
509754 |
rs751069628 |
3:158367854-158367854 |
3:158650065-158650065 |
2 |
GFM1 |
NM_024996.5(GFM1):c.748C>T (p.Arg250Trp) |
SNV |
Likely pathogenic |
30598 |
rs139430866 |
3:158369943-158369943 |
3:158652154-158652154 |
3 |
MTRFR |
NM_152269.5(MTRFR):c.*14del |
Deletion |
Uncertain significance |
307498 |
rs886049040 |
12:123741592-123741592 |
12:123257045-123257045 |
4 |
RAB33A |
NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu) |
SNV |
Uncertain significance |
411665 |
rs750418813 |
X:129264072-129264072 |
X:130130097-130130097 |
5 |
RAB33A |
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) |
SNV |
Uncertain significance |
594797 |
rs773680831 |
X:129272583-129272583 |
X:130138608-130138608 |
6 |
RAB33A |
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) |
SNV |
Uncertain significance |
214082 |
rs752742151 |
X:129281749-129281749 |
X:130147774-130147774 |
7 |
AARS2 |
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) |
SNV |
Uncertain significance |
357070 |
rs146512155 |
6:44272836-44272836 |
6:44305099-44305099 |
8 |
TUFM |
NM_003321.4(TUFM):c.-81G>C |
SNV |
Uncertain significance |
318761 |
rs573249163 |
16:28857671-28857671 |
16:28846350-28846350 |
9 |
TUFM |
NM_003321.4(TUFM):c.-128G>C |
SNV |
Uncertain significance |
318762 |
rs555362028 |
16:28857718-28857718 |
16:28846397-28846397 |
10 |
COPB2 |
NM_020191.4(MRPS22):c.987+15del |
Deletion |
Uncertain significance |
343491 |
rs372892045 |
3:139074639-139074639 |
3:139355797-139355797 |
11 |
RAB33A |
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) |
SNV |
Uncertain significance |
214080 |
rs781350745 |
X:129271081-129271081 |
X:130137106-130137106 |
12 |
RAB33A |
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) |
SNV |
Uncertain significance |
372555 |
rs1057517852 |
X:129264118-129264118 |
X:130130143-130130143 |
13 |
MTRFR |
NM_152269.5(MTRFR):c.*702_*705CAGT[1] |
Microsatellite |
Uncertain significance |
307511 |
rs886049046 |
12:123742280-123742283 |
12:123257733-123257736 |
14 |
RAB33A |
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) |
SNV |
Uncertain significance |
916843 |
|
X:129264088-129264088 |
X:130130113-130130113 |
15 |
DNAJC9-AS1 |
NM_016065.4(MRPS16):c.-85_-84GT[1] |
Microsatellite |
Uncertain significance |
300726 |
rs886047201 |
10:75012322-75012323 |
10:73252564-73252565 |
16 |
DNAJC9-AS1 |
NM_016065.4(MRPS16):c.-120_-118del |
Deletion |
Uncertain significance |
300729 |
rs574159820 |
10:75012358-75012360 |
10:73252600-73252602 |
17 |
DNAJC9-AS1 |
NM_016065.4(MRPS16):c.*450del |
Deletion |
Uncertain significance |
300712 |
rs886047196 |
10:75010160-75010160 |
10:73250402-73250402 |
18 |
DNAJC9-AS1 |
NM_016065.4(MRPS16):c.275-5T>G |
SNV |
Uncertain significance |
300717 |
rs763591161 |
10:75010754-75010754 |
10:73250996-73250996 |
19 |
MRPS22 |
NM_020191.3(MRPS22):c.799T>C (p.Tyr267His) |
SNV |
Uncertain significance |
343490 |
rs762299963 |
3:139071555-139071555 |
3:139352713-139352713 |
20 |
DNAJC9-AS1 |
NM_016065.4(MRPS16):c.*1503A>G |
SNV |
Uncertain significance |
300690 |
rs2018198 |
10:75009107-75009107 |
10:73249349-73249349 |
21 |
DNAJC9-AS1 |
NM_016065.4(MRPS16):c.*854_*856del |
Deletion |
Uncertain significance |
300699 |
rs886047188 |
10:75009754-75009756 |
10:73249996-73249998 |
22 |
DNAJC9-AS1 |
NM_016065.4(MRPS16):c.*1291_*1293del |
Deletion |
Uncertain significance |
300694 |
rs767465725 |
10:75009317-75009319 |
10:73249559-73249561 |
23 |
AARS2 |
NM_020745.4(AARS2):c.*1284_*1287del |
Deletion |
Uncertain significance |
357034 |
rs201274623 |
6:44266997-44267000 |
6:44299260-44299263 |
24 |
AARS2 |
NM_020745.4(AARS2):c.*1473del |
Deletion |
Uncertain significance |
357031 |
rs766302064 |
6:44266811-44266811 |
6:44299074-44299074 |
25 |
TUFM |
NM_003321.5(TUFM):c.1195-3T>C |
SNV |
Uncertain significance |
318743 |
rs376169369 |
16:28854472-28854472 |
16:28843151-28843151 |
26 |
TUFM |
NM_003321.5(TUFM):c.-57_-55TCT[2] |
Microsatellite |
Uncertain significance |
318759 |
rs147419027 |
16:28857639-28857641 |
16:28846318-28846320 |
27 |
MRPS22 |
NM_020191.4(MRPS22):c.648+19del |
Deletion |
Uncertain significance |
343487 |
rs773240427 |
3:139069180-139069180 |
3:139350338-139350338 |
28 |
EARS2 |
NM_001083614.2(EARS2):c.*1048del |
Deletion |
Uncertain significance |
318526 |
rs750087699 |
16:23534644-23534644 |
16:23523323-23523323 |
29 |
EARS2 |
NM_001083614.2(EARS2):c.*1902dup |
Duplication |
Uncertain significance |
318512 |
rs79556186 |
16:23533789-23533790 |
16:23522468-23522469 |
30 |
EARS2 |
NM_001083614.2(EARS2):c.558G>A (p.Ala186=) |
SNV |
Uncertain significance |
318554 |
rs374363396 |
16:23546609-23546609 |
16:23535288-23535288 |
31 |
GFM1 |
NM_024996.5(GFM1):c.1384G>T (p.Asp462Tyr) |
SNV |
Uncertain significance |
343933 |
rs200244667 |
3:158383129-158383129 |
3:158665340-158665340 |
32 |
AARS2 |
NM_020745.4(AARS2):c.*1112dup |
Duplication |
Uncertain significance |
357037 |
rs112521684 |
6:44267171-44267172 |
6:44299434-44299435 |
33 |
DNAJC9-AS1 |
NM_016065.4(MRPS16):c.*633dup |
Duplication |
Uncertain significance |
300704 |
rs555061429 |
10:75009976-75009977 |
10:73250218-73250219 |
34 |
EARS2 |
NM_001083614.2(EARS2):c.*535dup |
Duplication |
Uncertain significance |
318531 |
rs11300207 |
16:23535156-23535157 |
16:23523835-23523836 |
35 |
TSFM |
NM_005726.6(TSFM):c.233C>T (p.Ala78Val) |
SNV |
Uncertain significance |
310009 |
rs886049729 |
12:58179947-58179947 |
12:57786164-57786164 |
36 |
RAB33A |
NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys) |
SNV |
Uncertain significance |
411664 |
rs769816388 |
X:129265722-129265722 |
X:130131747-130131747 |
37 |
RAB33A |
NM_004208.4(AIFM1):c.1481C>T (p.Ala494Val) |
SNV |
Uncertain significance |
477606 |
rs1556254400 |
X:129265742-129265742 |
X:130131767-130131767 |
38 |
RAB33A |
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) |
SNV |
Uncertain significance |
243069 |
rs202219398 |
X:129267348-129267348 |
X:130133373-130133373 |
39 |
RAB33A |
NM_004208.4(AIFM1):c.597A>C (p.Lys199Asn) |
SNV |
Uncertain significance |
477607 |
rs143670174 |
X:129281476-129281476 |
X:130147501-130147501 |
40 |
RAB33A |
NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) |
SNV |
Uncertain significance |
214085 |
rs756361109 |
X:129290550-129290550 |
X:130156576-130156576 |
41 |
RAB33A |
NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile) |
SNV |
Uncertain significance |
543931 |
rs1056740593 |
X:129270668-129270668 |
X:130136693-130136693 |
42 |
RAB33A |
NM_004208.4(AIFM1):c.1081G>A (p.Val361Ile) |
SNV |
Uncertain significance |
576371 |
rs1569417347 |
X:129270701-129270701 |
X:130136726-130136726 |
43 |
RAB33A |
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) |
SNV |
Uncertain significance |
445310 |
rs201711375 |
X:129290514-129290514 |
X:130156540-130156540 |
44 |
RAB33A |
NM_004208.4(AIFM1):c.341C>T (p.Ala114Val) |
SNV |
Uncertain significance |
639720 |
rs138662844 |
X:129283452-129283452 |
X:130149477-130149477 |
45 |
RAB33A |
NM_004208.4(AIFM1):c.1075+4G>C |
SNV |
Uncertain significance |
640384 |
rs374943447 |
X:129271049-129271049 |
X:130137074-130137074 |
46 |
RAB33A |
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) |
SNV |
Uncertain significance |
641733 |
rs1603223158 |
X:129271122-129271122 |
X:130137147-130137147 |
47 |
RAB33A |
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) |
SNV |
Uncertain significance |
642792 |
rs1375125488 |
X:129264022-129264022 |
X:130130047-130130047 |
48 |
RAB33A |
NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr) |
SNV |
Uncertain significance |
643584 |
rs1603230120 |
X:129290446-129290446 |
X:130156472-130156472 |
49 |
RAB33A |
NM_004208.4(AIFM1):c.1710C>A (p.Asp570Glu) |
SNV |
Uncertain significance |
643666 |
rs1603218828 |
X:129264005-129264005 |
X:130130030-130130030 |
50 |
RAB33A |
NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly) |
SNV |
Uncertain significance |
646433 |
rs1603218953 |
X:129264121-129264121 |
X:130130146-130130146 |