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Items: 16

1.

nsv4683395

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
AP4B1
,
AP4B1-AS1
Location information:
Clinical significance:
Uncertain significance
ID:
50286075
variant
2.

nsv6313675

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LINC01307
,
FTLP17
,
KATNBL1P2
,
UBL4B
,
DPH5-DT
,
LINC01761
,
RNU6-965P
,
LINC01930
,
KCNA10
,
LOC105378899
,
WDR47
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53677546
variant
3.

nsv5381058

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
AMYP1
,
MIR4256
,
EPS8L3
,
TRUND-NNN8-1
,
NAP1L4P1
,
LOC107985443
,
NDE1P1
,
MOV10
,
CLCC1
,
IGSF3
,
UBE2FP3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
51636315
variant
6.

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
7.

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
8.

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
9.

nsv3882464

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LINC02607
,
RNVU1-19
,
MIR137HG
,
TLCD4
,
LOC105378901
,
TRN-GTT7-1
,
LOC107985524
,
RN7SKP270
,
LOC646970
,
DNAJA1P5
,
LOC107985447
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48445819
variant
10.

nsv3890331

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
OR11I1P
,
NHLH2
,
AMIGO1
,
MRPL53P1
,
KCNA3
,
AMPD2
,
RN7SL420P
,
AKR7A2P1
,
STRIP1
,
SLC16A4
,
LOC100420092
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48453686
variant
11.

nsv6313671

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
GAPDHP23
,
RNA5SP56
,
LOC100287840
,
GAPDHP64
,
LOC105378926
,
NBPF8
,
GAPDHP32
,
LOC107985189
,
NOTCH2
,
HMGCS2
,
LRIG2-DT
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53677542
variant
12.

nsv3898188

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
AP4B1-AS1
,
HNRNPA1P43
,
CIMAP3
,
RBM15
,
FTH1P22
,
LINC01762
,
LOC105378925
,
BCL2L15
,
SIKE1
,
SYT6
,
RNU6-817P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48461543
variant
13.

nsv4673999

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
AMPD1
,
NGF
,
NRAS
,
SYCP1
,
TSHB
,
CSDE1
,
TSPAN2
,
BCAS2
,
AP4B1
,
PHTF1
,
PTPN22
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
50270824
variant
14.

nsv3877981

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
OLFML3
,
PHTF1
,
MAGI3
,
PTPN22
,
BCL2L15
,
HIPK1
,
AP4B1-AS1
,
MRPL57P1
,
SYT6
,
HIPK1-AS1
,
RSBN1
,
See more...
Location information:
Clinical significance:
Likely benign
ID:
48441336
variant
16.

nsv3877482

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MAGI3
,
RPL13AP10
,
BCL2L15
,
SYT6
,
HIPK1-AS1
,
AP4B1
,
RSBN1
,
RPS2P14
,
HIPK1
,
PTPN22
,
PHTF1
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48440837
variant
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