1 |
MLC1
|
NM_015166.3(MLC1): c.178-10T> A
|
single nucleotide variant |
Likely pathogenic |
rs80358243
|
GRCh37 |
Chromosome 22, 50521612: 50521612 |
2 |
MLC1
|
NM_015166.3(MLC1): c.178-10T> A
|
single nucleotide variant |
Likely pathogenic |
rs80358243
|
GRCh38 |
Chromosome 22, 50083183: 50083183 |
3 |
ABCC8
|
NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met)
|
single nucleotide variant |
Likely pathogenic |
rs141322087
|
GRCh37 |
Chromosome 11, 17426099: 17426099 |
4 |
ABCC8
|
NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met)
|
single nucleotide variant |
Likely pathogenic |
rs141322087
|
GRCh38 |
Chromosome 11, 17404552: 17404552 |
5 |
AKT3
|
NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs587776935
|
GRCh37 |
Chromosome 1, 243668598: 243668598 |
6 |
AKT3
|
NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs587776935
|
GRCh38 |
Chromosome 1, 243505296: 243505296 |
7 |
TBC1D7
|
NM_016495.5(TBC1D7): c.538delT (p.Tyr180Thrfs)
|
deletion |
Pathogenic |
rs483352922
|
GRCh37 |
Chromosome 6, 13307959: 13307959 |
8 |
TBC1D7
|
NM_016495.5(TBC1D7): c.538delT (p.Tyr180Thrfs)
|
deletion |
Pathogenic |
rs483352922
|
GRCh38 |
Chromosome 6, 13307727: 13307727 |
9 |
TBC1D7
|
NM_016495.5(TBC1D7): c.18_21delGAGA (p.Arg7Thrfs)
|
deletion |
Pathogenic |
rs587777652
|
GRCh37 |
Chromosome 6, 13327110: 13327113 |
10 |
TBC1D7
|
NM_016495.5(TBC1D7): c.18_21delGAGA (p.Arg7Thrfs)
|
deletion |
Pathogenic |
rs587777652
|
GRCh38 |
Chromosome 6, 13326878: 13326881 |
11 |
NSD1
|
NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs587784177
|
GRCh37 |
Chromosome 5, 176710828: 176710828 |
12 |
NSD1
|
NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs587784177
|
GRCh38 |
Chromosome 5, 177283827: 177283827 |
13 |
FAM177A1
|
NM_001079519.1(FAM177A1): c.297dup (p.Trp100Metfs)
|
duplication |
Likely pathogenic |
rs730882244
|
GRCh38 |
Chromosome 14, 35077176: 35077176 |
14 |
FAM177A1
|
NM_001079519.1(FAM177A1): c.297dup (p.Trp100Metfs)
|
duplication |
Likely pathogenic |
rs730882244
|
GRCh37 |
Chromosome 14, 35546382: 35546382 |
15 |
FIBP
|
NM_198897.1(FIBP): c.673C> T (p.Gln225Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs786204849
|
GRCh38 |
Chromosome 11, 65885181: 65885181 |
16 |
FIBP
|
NM_198897.1(FIBP): c.673C> T (p.Gln225Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs786204849
|
GRCh37 |
Chromosome 11, 65652652: 65652652 |
17 |
TPTE
|
NM_199261.3(TPTE): c.1357-3_1357-2delTA
|
deletion |
Uncertain significance |
rs149363218
|
GRCh37 |
Chromosome 21, 10910401: 10910402 |
18 |
TPTE
|
NM_199261.3(TPTE): c.1357-3_1357-2delTA
|
deletion |
Uncertain significance |
rs149363218
|
GRCh38 |
Chromosome 21, 10602055: 10602056 |
19 |
SLC25A22
|
NM_024698.5(SLC25A22): c.679G> A (p.Val227Met)
|
single nucleotide variant |
Uncertain significance |
rs200603610
|
GRCh38 |
Chromosome 11, 792367: 792367 |
20 |
SLC25A22
|
NM_024698.5(SLC25A22): c.679G> A (p.Val227Met)
|
single nucleotide variant |
Uncertain significance |
rs200603610
|
GRCh37 |
Chromosome 11, 792367: 792367 |
21 |
COL11A2
|
NM_080680.2(COL11A2): c.4559G> A (p.Arg1520His)
|
single nucleotide variant |
Uncertain significance |
rs772567850
|
GRCh37 |
Chromosome 6, 33133517: 33133517 |
22 |
COL11A2
|
NM_080680.2(COL11A2): c.4559G> A (p.Arg1520His)
|
single nucleotide variant |
Uncertain significance |
rs772567850
|
GRCh38 |
Chromosome 6, 33165740: 33165740 |
23 |
KAT6B
|
NM_012330.3(KAT6B): c.1927A> T (p.Met643Leu)
|
single nucleotide variant |
Uncertain significance |
rs778899637
|
GRCh37 |
Chromosome 10, 76736022: 76736022 |
24 |
KAT6B
|
NM_012330.3(KAT6B): c.1927A> T (p.Met643Leu)
|
single nucleotide variant |
Uncertain significance |
rs778899637
|
GRCh38 |
Chromosome 10, 74976264: 74976264 |
25 |
MT-ND4
|
NC_012920.1: m.12013A> G
|
single nucleotide variant |
Uncertain significance |
rs1057516067
|
GRCh37 |
Chromosome MT, 12013: 12013 |
26 |
MT-ND4
|
NC_012920.1: m.12013A> G
|
single nucleotide variant |
Uncertain significance |
rs1057516067
|
GRCh38 |
Chromosome MT, 12013: 12013 |
27 |
MT-ND4
|
NC_012920.1: m.12018C> G
|
single nucleotide variant |
Uncertain significance |
rs1057516068
|
GRCh37 |
Chromosome MT, 12018: 12018 |
28 |
MT-ND4
|
NC_012920.1: m.12018C> G
|
single nucleotide variant |
Uncertain significance |
rs1057516068
|
GRCh38 |
Chromosome MT, 12018: 12018 |
29 |
MT-CYB
|
NC_012920.1: m.15246G> A
|
single nucleotide variant |
Likely pathogenic |
rs1057516075
|
GRCh37 |
Chromosome MT, 15246: 15246 |
30 |
MT-CYB
|
NC_012920.1: m.15246G> A
|
single nucleotide variant |
Likely pathogenic |
rs1057516075
|
GRCh38 |
Chromosome MT, 15246: 15246 |
31 |
BTD
|
NM_001281723.2(BTD): c.106_107delGG (p.Gly36Leufs)
|
deletion |
Uncertain significance |
rs765906887
|
GRCh38 |
Chromosome 3, 15635479: 15635480 |
32 |
BTD
|
NM_001281723.2(BTD): c.106_107delGG (p.Gly36Leufs)
|
deletion |
Uncertain significance |
rs765906887
|
GRCh37 |
Chromosome 3, 15676986: 15676987 |
33 |
NFIA
|
NM_001145511.1(NFIA): c.881delG (p.Gly294Glufs)
|
deletion |
Likely pathogenic |
rs1057518992
|
GRCh37 |
Chromosome 1, 61824905: 61824905 |
34 |
NFIA
|
NM_001145511.1(NFIA): c.881delG (p.Gly294Glufs)
|
deletion |
Likely pathogenic |
rs1057518992
|
GRCh38 |
Chromosome 1, 61359233: 61359233 |
35 |
DOCK6
|
NM_020812.3(DOCK6): c.934C> T (p.His312Tyr)
|
single nucleotide variant |
Uncertain significance |
rs370838036
|
GRCh37 |
Chromosome 19, 11356328: 11356328 |
36 |
DOCK6
|
NM_020812.3(DOCK6): c.934C> T (p.His312Tyr)
|
single nucleotide variant |
Uncertain significance |
rs370838036
|
GRCh38 |
Chromosome 19, 11245652: 11245652 |
37 |
GLI3
|
NM_000168.5(GLI3): c.2000G> T (p.Arg667Leu)
|
single nucleotide variant |
Uncertain significance |
rs373926115
|
GRCh37 |
Chromosome 7, 42012039: 42012039 |
38 |
GLI3
|
NM_000168.5(GLI3): c.2000G> T (p.Arg667Leu)
|
single nucleotide variant |
Uncertain significance |
rs373926115
|
GRCh38 |
Chromosome 7, 41972440: 41972440 |
39 |
NFIB
|
NM_001190737.1(NFIB): c.265C> T (p.Arg89Ter)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs764333096
|
GRCh38 |
Chromosome 9, 14307286: 14307286 |
40 |
NFIB
|
NM_001190737.1(NFIB): c.265C> T (p.Arg89Ter)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs764333096
|
GRCh37 |
Chromosome 9, 14307285: 14307285 |
41 |
BICD2
|
NM_001003800.1(BICD2): c.1636_1638delAAT (p.Asn546del)
|
deletion |
Likely pathogenic |
rs1064795760
|
GRCh38 |
Chromosome 9, 92719007: 92719009 |
42 |
BICD2
|
NM_001003800.1(BICD2): c.1636_1638delAAT (p.Asn546del)
|
deletion |
Likely pathogenic |
rs1064795760
|
GRCh37 |
Chromosome 9, 95481289: 95481291 |
43 |
TBC1D7
|
NM_016495.5(TBC1D7): c.747_748insA (p.Val250Serfs)
|
insertion |
Pathogenic |
|
GRCh37 |
Chromosome 6, 13306678: 13306678 |
44 |
TBC1D7
|
NM_016495.5(TBC1D7): c.747_748insA (p.Val250Serfs)
|
insertion |
Pathogenic |
|
GRCh38 |
Chromosome 6, 13306445: 13306446 |
45 |
ANKRD11
|
NM_001256182.1(ANKRD11): c.6919C> T (p.Pro2307Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs575642464
|
GRCh38 |
Chromosome 16, 89279623: 89279623 |
46 |
ANKRD11
|
NM_001256182.1(ANKRD11): c.6919C> T (p.Pro2307Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs575642464
|
GRCh37 |
Chromosome 16, 89346031: 89346031 |
47 |
SATB2
|
NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 2, 200173568: 200173569 |
48 |
SATB2
|
NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 2, 199308845: 199308846 |
49 |
STXBP1
|
NM_003165.3(STXBP1): c.360delA (p.Lys120Asnfs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 9, 127661136: 127661136 |
50 |
STXBP1
|
NM_003165.3(STXBP1): c.360delA (p.Lys120Asnfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 9, 130423415: 130423415 |