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Items: 16

1.

nsv3912840

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CRB1
,
STX6
,
RPS23P9
,
SLAMF1
,
CRTC2
,
RN7SL372P
,
IL6R
,
RNU6-693P
,
RPL35AP5
,
C1orf105
,
ATP8B2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48476195
variant

2.

nsv3906070

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PBXIP1
,
ZBTB7B
,
SCAMP3
,
EFNA4
,
HMGN2P18
,
SLC50A1
,
THBS3-AS1
,
HCN3
,
PYGO2-AS1
,
LENEP
,
MUC1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48469425
variant

3.

nsv3877365

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MARK1
,
LINC02766
,
FDPS
,
PRUNE1
,
GJB4
,
RN7SL653P
,
PPIEL
,
CRB1
,
SELENBP1
,
LBR
,
CHML
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48440720
variant

4.

nsv3885206

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SNAP47
,
STK40
,
RNU6-750P
,
LINC01138
,
MIR4632
,
LOC107985100
,
EIF2D
,
SEPTIN7P13
,
RAB13
,
LOC107985524
,
DR1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48448561
variant

5.

nsv3884414

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU1-153P
,
MIR3917
,
LOC105378793
,
CCDC190
,
RPL29P6
,
RUNX3-AS1
,
MIXL1
,
LCE1B
,
NAXE
,
PDC-AS1
,
BNIPL
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48447769
variant

6.

nsv3918947

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC101060227
,
LINC01720
,
LOC105371693
,
LINC01350
,
DCST1
,
PTPN2P1
,
SCYL3
,
GYG2P2
,
KIAA1614-AS1
,
KISS1
,
LOC105371610
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48482302
variant

7.

nsv3900459

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
HORMAD1
,
BCAN-AS1
,
OR10K2
,
TSTD1
,
VHLL
,
S100A5
,
MIR1295B
,
RPS11P3
,
GOLPH3L
,
GPR52
,
RNU5F-6P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48463814
variant

8.

nsv3917016

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SMU1P1
,
LOC100419798
,
MRPS33P1
,
EFNA3
,
BCAN
,
MTX1
,
DCST1-AS1
,
SCARNA26B
,
HAPLN2
,
SMG5
,
LOC105371729
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48480371
variant

9.

nsv3906950

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ARHGEF2-AS2
,
INSRR
,
EFNA1
,
CYCSP52
,
LRRC71
,
UBQLN4
,
RN7SL612P
,
FCRL5
,
ARHGEF2
,
LENEP
,
EFNA4
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48470305
variant

10.

nsv3870644

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ADAR
,
BGLAP
,
CHRNB2
,
CKS1B
,
CLK2
,
EFNA1
,
EFNA3
,
EFNA4
,
FDPS
,
GBA1
,
GBA1LP
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
48433999
variant

11.

nsv3909898

Variant type:
inversion
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ADAR
,
BGLAP
,
CHRNB2
,
CKS1B
,
CLK2
,
CRABP2
,
EFNA1
,
EFNA3
,
EFNA4
,
FDPS
,
GBA1
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
48473253
variant

12.

nsv5381285

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
DCST1
,
NUDT17
,
THEM5
,
RPS15AP12
,
LOC100271842
,
LOC100216488
,
LOC107985464
,
LOC105371438
,
GORAB
,
B4GALT3
,
SRGAP2D
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
51636542
variant

13.

nsv6310678

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PRPF3
,
KHDC4
,
S100A7
,
RN7SL444P
,
S100A10
,
SPRR1B
,
LOC284620
,
LINC00302
,
KCNN3
,
ADAMTSL4-AS1
,
LOC105371446
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
53674549
variant

14.

nsv6310523

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR555
,
CFAP141
,
RPSAP17
,
RNU7-57P
,
SCAMP3
,
LOC100419798
,
SNORA80E
,
MTX1
,
ADAR
,
SHE
,
ZBTB7B
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
53674394
variant

15.

nsv3890833

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CLK2
,
DCST2
,
TRIM46
,
GBA1LP
,
RUSC1
,
KRTCAP2
,
MUC1
,
ZBTB7B
,
SCAMP3
,
DCST1-AS1
,
RNU6-1297P
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48454188
variant

16.

nsv4673954

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
GBA1LP
,
PBXIP1
,
CLK2
,
KRTCAP2
,
DCST2
,
SCAMP3
,
PMVK
,
ZBTB7B
,
THBS3
,
MTX1
,
PYGO2
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
50270779
variant

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