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Items: 1 to 20 of 157

1.

nsv3871570

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SLC26A1
,
DGKQ
,
IDUA
,
TMEM175
,
FGFRL1
Location information:
Clinical significance:
Benign
ID:
48434925
variant
2.

nsv3876082

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
IDUA
,
FGFRL1
,
DGKQ
,
SLC26A1
,
TMEM175
Location information:
Clinical significance:
Benign
ID:
48439437
variant
3.

nsv3882732

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SLC26A1
,
IDUA
,
TMEM175
,
DGKQ
,
FGFRL1
Location information:
Clinical significance:
Benign
ID:
48446087
variant
4.

nsv3922676

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
FGFRL1
,
DGKQ
,
TMEM175
,
IDUA
,
SLC26A1
Location information:
Clinical significance:
Benign/Likely benign
ID:
48486031
variant
5.

nsv3918564

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
DGKQ
,
FGFRL1
,
IDUA
,
TMEM175
,
SLC26A1
Location information:
Clinical significance:
Benign
ID:
48481919
variant
6.

nsv4452528

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
DGKQ
,
GAK
,
TMEM175
,
LOC105374341
Location information:
Clinical significance:
Uncertain significance
ID:
49618163
variant
7.

nsv3885762

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CD38
,
DEFB131A
,
LOC112268460
,
KRT18P63
,
LINC02270
,
LOC105374341
,
BLOC1S4
,
MRFAP1
,
LOC107986220
,
CLNK
,
MSX1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48449117
variant
8.

nsv3923296

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
OR7E99P
,
FBXL5
,
RN7SKP170
,
TMEM129
,
SNORA75B
,
LOC105374502
,
PCGF3-AS1
,
LCORL
,
RGS12
,
LOC105374545
,
RN7SL16P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48486651
variant
9.

nsv4674378

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
USP17L30
,
LOC100422637
,
USP17L26
,
TRSUP-TTA3-1
,
LINC01587
,
LOC105374482
,
RPL10AP7
,
LOC101928948
,
STX18
,
LOC105374505
,
LOC105374336
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
50271203
variant
10.

nsv6315347

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC100421802
,
ADRA2C
,
C1QTNF7
,
ZNF732
,
DGKQ
,
TAPT1
,
LOC105374480
,
USP17L22
,
SNRPCP16
,
QDPR
,
OR7E163P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53680294
variant
11.

nsv6291097

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105374479
,
LOC105374502
,
MIR4274
,
RGS12
,
LOC105374482
,
LOC105374373
,
PCGF3-AS1
,
USP17L30
,
RN7SKP275
,
LOC107986252
,
HAUS3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53636492
variant
12.

nsv3915161

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CTBP1-AS
,
CPZ
,
LOC105374370
,
LOC101929048
,
UNC93B4
,
LOC105374373
,
USP17L25
,
OR7E85P
,
SLC2A9-AS1
,
LOC100286945
,
LOC107986252
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48478516
variant
13.

nsv1398080

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RPL10AP7
,
RPS7P15
,
LOC105374336
,
LOC101928948
,
LOC105374482
,
LOC100422637
,
CPZ
,
MIR4274
,
RN7SKP275
,
CTBP1-AS
,
USP17L25
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
30347743
variant
14.

nsv6112747

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
GPR78
,
LOC105374510
,
RNU6-578P
,
OTOP1
,
LOC105374490
,
NKX1-1
,
RN7SKP292
,
TADA2B
,
SORCS2
,
LOC100533734
,
SNORD162
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53150592
variant
15.

nsv3915014

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC100422637
,
TRSUP-TTA3-1
,
TNIP2
,
LOC105374359
,
RPL10AP7
,
LINC01587
,
CPEB2-DT
,
TMEM129
,
LOC105374336
,
LDB2
,
LINC00955
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48478369
variant
16.

nsv3915275

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
OR7E99P
,
LOC105374353
,
LOC107986186
,
OR7E85P
,
LOC107986252
,
HAUS3
,
USP17L26
,
LOC100286945
,
LINC01182
,
USP17L27
,
LOC107986249
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48478630
variant
17.

nsv3888069

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RPS3AP16
,
LOC107986256
,
LOC105374343
,
LOC105374357
,
TACC3
,
TBC1D14
,
USP17L14P
,
CPLX1
,
RNA5SP154
,
MAN2B2
,
HTT-AS
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48451424
variant
18.

nsv3917860

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105374338
,
LOC100422639
,
SCARNA22
,
RPS24P11
,
FAM86KP
,
USP17L12
,
DEFB131A
,
KLF17P2
,
LINC02270
,
CLNK
,
FAM86MP
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48481215
variant
19.

nsv3918310

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RN7SL589P
,
STX18-AS1
,
LOC102723763
,
TMED11P
,
S100P
,
OR7E43P
,
DEFB130D
,
LOC100533735
,
ATP5ME
,
DGKQ
,
ACOX3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48481665
variant
20.

nsv3887204

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
USP17L21
,
MIR95
,
LOC105374482
,
FGFR3
,
USP17L15
,
PCGF3-AS1
,
LOC105374488
,
LOC105374339
,
MIR4274
,
LOC105374359
,
TRMT44
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48450559
variant
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