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Items: 17

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.

nsv7095320

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-239P
,
ATP8B2
,
RPS7P2
,
IL6R
,
RPS27
,
NUP210L
,
MRPS33P1
,
HAX1
,
UBAP2L
,
AQP10
,
RN7SL431P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
55275509
variant
3.

nsv4346764

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
GATAD2B
,
MIR190B
,
CREB3L4
,
NUP210L
,
CRTC2
,
RPS27
,
RPS7P2
,
LOC101928059
,
MIR6737
,
CFAP141
,
SLC27A3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
49341677
variant
4.

nsv3903470

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RN7SL431P
,
SLC27A3
,
INTS3
,
TPM3
,
UBAP2L
,
LOC343052
,
RPL34P5
,
JTB
,
RPS7P2
,
LOC101928059
,
RPS27
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48466825
variant
5.

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
6.

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
7.

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
8.

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
9.

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
10.

nsv3877540

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LCE1F
,
SPRR2G
,
S100A8
,
SPRR2D
,
S100A7A
,
SPRR2A
,
RN7SL44P
,
SETDB1
,
RN7SL431P
,
LCE1A
,
LCEP3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48440895
variant
11.

nsv3917016

ID:
48480371
variant
14.

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
15.

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
17.

nsv4673922

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
GATAD2B
,
MIR8083
,
MIR190B
,
C1orf43
,
RAB13
,
LOC645965
,
LOC343052
,
RPL34P5
,
JTB
,
GEMIN2P1
,
INTS3
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
50270747
variant
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