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Items: 14

1.

nsv3901854

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CCDC60
,
LOC105370027
Location information:
Clinical significance:
conflicting data from submitters
ID:
48465209
variant
2.

nsv3922438

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CCDC60
,
LOC105370027
,
TMEM233
Location information:
Clinical significance:
Likely benign
ID:
48485793
variant
3.

nsv6314155

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105370027
,
LINC00934
,
CCDC60
Location information:
Clinical significance:
Uncertain significance
ID:
53678026
variant
4.

nsv3904242

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNA5SP369
,
ST13P22
,
LOC101929432
,
CD63-AS1
,
NCKAP5L
,
RPS20P31
,
LINC02370
,
RNU6-1188P
,
LOC107984486
,
LOC100420442
,
OR6C2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48467597
variant
5.

nsv3905447

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOH12CR2
,
OR8S21P
,
RPL21P103
,
LOC105369755
,
SETD1B
,
RNU6-600P
,
LOC105369649
,
NPFF
,
P2RX4
,
MON2
,
LETMD1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48468802
variant
6.

nsv3897722

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU4ATAC16P
,
PIGAP1
,
RPL21P18
,
RPL41
,
LOC105369976
,
LOC100421618
,
OAS3
,
LINC02417
,
IQSEC3-AS2
,
SLCO1B1
,
DSTNP2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48461077
variant
7.

nsv3914194

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
BTG1P1
,
LOC105370073
,
NRIP2
,
GLTP
,
SMIM10L1
,
RILPL2
,
ANKRD52
,
RPL21P103
,
LOC105369649
,
TMEM119
,
RPL13AP22
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48477549
variant
8.

nsv3904719

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
OR5BT1P
,
RECQL
,
CFAP73
,
A2ML1
,
NENFP2
,
BCAT1
,
SIRT4
,
RPL18P9
,
CCNT1
,
GPD1
,
RNA5SP373
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48468074
variant
9.

nsv3913894

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
TAOK3
,
LINC02405
,
LOC105370086
,
LOC100419701
,
PUS1
,
LOC105370012
,
RPLP0
,
CCDC92
,
ADGRD1
,
LINC02985
,
SNORA49
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48477249
variant
10.

nsv3924220

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105370080
,
LINC02985
,
MED13L
,
CCDC92
,
ADGRD1
,
LOC100287653
,
HCAR2
,
POP5
,
RPL36P15
,
COQ5
,
RPS6P21
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48487575
variant
11.

nsv3920557

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
TMED2
,
GCN1
,
TMEM132C
,
CCDC60
,
LOC105370076
,
TCTN2
,
LOC107984445
,
SRRM4
,
VPS33A
,
LOC107984448
,
RPS11P5
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48483912
variant
12.

nsv6290239

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ACADS
,
BCL7A
,
SCARB1
,
COX6A1
,
EIF2B1
,
STX2
,
GOLGA3
,
GTF2H3
,
HPD
,
MMP17
,
MSI1
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
53634116
variant
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