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Items: 19

1.

nsv3911811

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PRPSAP1
,
CACNG1
,
COG1
,
LOC101928447
,
CDK3
,
MIR6783
,
LOC100507002
,
LRRC45
,
ZACN
,
LOC105371771
,
TCAM1P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48475166
variant
2.

nsv3903684

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR3185
,
YWHAEP6
,
RN7SL79P
,
ALOX12-AS1
,
MIEN1
,
ALOXE3
,
KIF18B
,
GPATCH8
,
LOC105371551
,
BCL6B
,
LOC101060400
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48467039
variant
3.

nsv3899740

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
P4HB
,
LOC105371808
,
CCT6B
,
TBC1D3F
,
NPEPPS
,
FAM106C
,
ACACA
,
C1QL1
,
MYOCD-AS1
,
MTVR2
,
NFE2L3P2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48463095
variant
4.

nsv3906245

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR21
,
LOC105371899
,
KRT20
,
KRTAP1-4
,
RPL36AP46
,
LOC105371796
,
NCOR1
,
SAMD11P1
,
ST6GALNAC2
,
STX8
,
LASP1NB
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48469600
variant
5.

nsv3907261

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SMURF2
,
LOC112268199
,
KLHL11
,
RPS2P46
,
SMYD4
,
LOC107985000
,
STAT5B
,
LOC107985086
,
LOC100420853
,
MTCO3P13
,
LOC105371739
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48470616
variant
6.

nsv3914783

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105371922
,
GJD3
,
LOC101930665
,
KRT15
,
HEXIM2
,
NUDT15P2
,
LHX1
,
LOC107985035
,
DUSP3
,
LINC01476
,
RPL36AP46
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48478138
variant
7.

nsv3909511

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
FOXK2
,
SOCS3-DT
,
AFMID
,
FSCN2
,
NOL11
,
HIGD1B
,
LINC02097
,
B4GALNT2
,
DCAKD
,
LINC02210-CRHR1
,
EIF4EP2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48472866
variant
8.

nsv4457646

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC107985089
,
ARSG
,
MIR4316
,
LINC01497
,
ST6GALNAC1
,
CSNK1D
,
LOC102929163
,
RN7SL454P
,
FAAP100
,
ATG12P1
,
CDC42EP4
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
49623281
variant
9.

nsv3909523

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RPL38
,
RNF157-AS1
,
LINC01971
,
LOC101928855
,
UNC13D
,
LOC107985034
,
MIR548AA2
,
MIR636
,
LOC100419624
,
GAA
,
QRICH2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48472878
variant
10.

nsv3906075

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CEP131
,
RPTOR
,
LOC105371903
,
LGALS3BP
,
PGS1
,
LINC02003
,
SIRT7
,
MIR3186
,
SLC25A10
,
CBX8
,
GGA3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48469430
variant
11.

nsv3917654

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC101928447
,
GRB2
,
SEC14L1
,
CD300LD-AS1
,
CPSF4L
,
MIR6787
,
MIR4738
,
RNY4P36
,
CYBC1
,
RNU6-97P
,
CCDC40
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48481009
variant
12.

nsv3919156

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CD300A
,
RNF213
,
LINC01970
,
HID1-AS1
,
TEN1-CDK3
,
FN3KRP
,
CBX2
,
ALYREF
,
LOC105371899
,
LOC105371882
,
SOX9
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48482511
variant
13.

nsv6315182

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
DUS1L
,
PVALEF
,
LOC105376789
,
LOC101929552
,
P4HB
,
CYBC1
,
CDK3
,
SLC25A10
,
RNF213-AS1
,
MIR4525
,
TRX-CAT1-8
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53679692
variant
14.

nsv3897835

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ARHGDIA
,
CCDC137
,
MIR6868
,
LOC105371896
,
PRCD
,
LINC01977
,
RNF157-AS1
,
FAAP100
,
LINC01973
,
CHMP6
,
ENDOV
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48461190
variant
15.

nsv4676104

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LLGL2
,
TSEN54
,
SEC14L1
,
EIF4A3
,
LOC101928447
,
GALK1
,
RNU6-97P
,
RECQL5
,
MIR4738
,
CARD14
,
THA1P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
50272929
variant
16.

nsv3919635

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LINC03048
,
MIR3186
,
DCXR
,
RPL9P29
,
LOC100419624
,
NARF-AS2
,
MIR1250
,
UTS2R
,
GAA
,
FOXK2
,
RFNG
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48482990
variant
17.

nsv3920061

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
BIRC5
,
GAA
,
LGALS3BP
,
TIMP2
,
CBX4
,
DNAH17
,
SOCS3
,
CYTH1
,
PGS1
,
CCDC40
,
CBX8
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
48483416
variant
18.

nsv3911899

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SOCS3
,
DNAH17
,
RN7SL236P
,
PGS1
,
C17orf99
,
BIRC5
,
THA1P
,
EIF5AP2
,
TMC8
,
LOC105371910
,
AFMID
,
See more...
Location information:
Clinical significance:
Likely benign
ID:
48475254
variant
19.

nsv3924398

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105371912
,
PGS1
,
SOCS3-DT
,
SOCS3
,
DNAH17
,
RN7SL236P
Location information:
Clinical significance:
Uncertain significance
ID:
48487753
variant
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