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Items: 1 to 20 of 44

1.

nsv6314154

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
STXBP1
,
SH2D3C
,
TOR2A
,
NIBAN2
,
PTRH1
,
TTC16
,
CFAP157
,
MIR3911
Location information:
Clinical significance:
Pathogenic
ID:
53678025
variant
2.

nsv4350379

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
STXBP1
,
SH2D3C
,
TOR2A
,
NIBAN2
,
PTRH1
,
TTC16
,
CFAP157
,
MIR3911
Location information:
Clinical significance:
Pathogenic
ID:
49345292
variant
3.

nsv6314148

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
STXBP1
,
SH2D3C
,
TOR2A
,
PTRH1
,
TTC16
,
CFAP157
,
MIR3911
Location information:
Clinical significance:
Pathogenic
ID:
53678019
variant
9.

nsv3897949

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
EEIG1
,
RNA5SP296
,
SLC2A8
,
LOC105376278
,
PIP5KL1
,
LOC105376281
,
MIR3911
,
ST6GALNAC6
,
MIR2861
,
LOC102723566
,
LOC107987129
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48461304
variant
10.

nsv3921944

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC101929116
,
LRSAM1
,
MVB12B
,
LOC107987132
,
LOC105376275
,
LOC105376278
,
SLC2A8
,
LOC105376281
,
MIR3911
,
NRON
,
NIBAN2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48485299
variant
11.

nsv5564479

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PIP5KL1
,
MIR3911
,
LOC102723566
,
MIR2861
,
RNA5SP296
,
EEIG1
,
LOC107987132
,
MIR4672
,
MIR3154
,
ST6GALNAC6
,
LOC105376278
,
See more...
Location information:
Clinical significance:
Pathogenic,
Uncertain significance
ID:
52011902
variant
12.

nsv4768374

ID:
50453179
variant
13.

nsv4450425

ID:
49616060
variant
14.

nsv6312681

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
EEIG1
,
PIP5KL1
,
MIR3911
,
LOC105376281
,
RNA5SP296
,
SLC25A25-AS1
,
LOC107987132
,
ST6GALNAC6
,
CDK9
,
MIR4672
,
NIBAN2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53676552
variant
15.

nsv3912247

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ALOX15P2
,
LOC107987061
,
OR5C1
,
NCLP1
,
FOCAD
,
LOC105375969
,
CDRT15P14
,
TLE4
,
LOC105376184
,
LOC401557
,
LOC105376313
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48475602
variant
16.

nsv3890420

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
TBC1D13
,
LOC105376186
,
ZDHHC21
,
ZYG11AP1
,
GBGT1
,
VN2R7P
,
PARK7P2
,
ORM1
,
FGF7P6
,
LOC105376292
,
RN7SL544P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48453775
variant
17.

nsv3905118

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR219A2
,
CLCN3P1
,
RORB-AS1
,
KLHL9
,
KRT18P24
,
POLR1E
,
CARD19
,
RNU6-1293P
,
RPS2P34
,
NR5A1
,
IL9RP1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48468473
variant
18.

nsv3891842

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
OR13C1P
,
CDC37L1
,
IGKV1OR-3
,
NDUFB6
,
GXYLT1P6
,
LOC105375957
,
CAVIN4
,
ACTL7A
,
CYP4F25P
,
MIGA2
,
LOC105379807
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48455197
variant
19.

nsv3895453

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RPL19P15
,
SPATA31D5P
,
PTENP1-AS
,
CARNMT1-AS1
,
MIR4667
,
HSPA5
,
LOC105376020
,
XLOC_007697
,
BSPRY
,
MIR4672
,
LOC107987109
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48458808
variant
20.

nsv3900967

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
BANCR
,
SETX
,
FBXW2
,
PTGES
,
OR13C5
,
PTENP1
,
CRAT
,
SLC24A2
,
FAM95C
,
LOC105376184
,
ZNG1A
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48464322
variant
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