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Items: 11

1.

nsv6311692

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
KLHL40
Location information:
Clinical significance:
Uncertain significance
ID:
53675563
variant
2.

nsv5381497

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
HHATL
,
KLHL40
Location information:
Clinical significance:
Uncertain significance
ID:
51636754
variant
3.

nsv7096719

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
KLHL40
,
HHATL
Location information:
Clinical significance:
Uncertain significance
ID:
55276908
variant
4.

nsv7097194

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
KLHL40
,
HHATL
Location information:
Clinical significance:
Uncertain significance
ID:
55277383
variant
6.

nsv3885606

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU4-62P
,
SEMA3B-AS1
,
TPRG1
,
ITPR1-DT
,
LOC107986112
,
H3P12
,
NT5DC2
,
OR7E122P
,
SRGAP3
,
C3orf36
,
LOC105377018
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48448961
variant
7.

nsv3889228

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
NDUFB4
,
LOC105374108
,
RPL6P7
,
RNY3P13
,
LINC00960
,
LOC107986110
,
TRH
,
LINC02016
,
LOC105377125
,
ZNF589
,
P2RY1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48452583
variant
8.

nsv3880617

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RPL23AP49
,
DLEC1
,
TFDP2
,
IGF2BP2
,
BTD
,
RBM5-AS1
,
RAB43
,
FANCD2
,
CYB561D2
,
PFN2
,
GPR149
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48443972
variant
9.

nsv3885169

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-243P
,
ZNF385D
,
RPL18AP9
,
THRB-AS1
,
EEF1GP3
,
RNU6-1227P
,
NBPF21P
,
LOC105377001
,
ENTPD3-AS1
,
EIF1B-AS1
,
PRADC1P1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48448524
variant
10.

nsv3883164

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ACAA1
,
ACVR2B
,
AMT
,
APEH
,
RHOA
,
SLC25A20
,
CAMP
,
CCK
,
ENTPD3
,
CDC25A
,
CCR1
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
48446519
variant
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