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Items: 1 to 20 of 50

1.

nsv7093183

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
IBA57
Location information:
Clinical significance:
Likely pathogenic
ID:
55267577
variant
2.

nsv5381291

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
IBA57-DT
,
GJC2
,
IBA57
Location information:
Clinical significance:
Uncertain significance
ID:
51636548
variant
3.

nsv4436266

Variant type:
complex substitution
Associated study:
nstd102
Organism:
human
Genes(s) in region:
OBSCN
,
IBA57
,
OBSCN-AS1
,
IBA57-DT
,
LOC101927401
Location information:
Clinical significance:
Uncertain significance
ID:
49579870
variant
4.

nsv4674115

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105373163
,
CDC42BPA
,
LOC105373034
,
MIR4671
,
RPS28P3
,
LOC105373206
,
MIR6742
,
LOC644006
,
LOC105373143
,
LOC105373289
,
ACBD3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
50270940
variant
5.

nsv3899452

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNA5S10
,
SIPA1L2
,
LOC105373164
,
LOC107985355
,
LOC105373161
,
RNA5S13
,
LOC105373124
,
LOC101927401
,
BTNL10P
,
TRIM67
,
FTH1P2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48462807
variant
6.

nsv3908695

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SNAP47
,
OBSCN-AS1
,
VN1R15P
,
LINC01703
,
MIR5008
,
MRPL55
,
ITPKB-IT1
,
FBXO28
,
GUK1
,
PYCR2
,
LOC101927247
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48472050
variant
7.

nsv3899116

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ISCA1P2
,
TUBB8P10
,
LEFTY2
,
ENAH
,
NUP133
,
H2BC26
,
RNA5S17
,
RPS27P5
,
KIAA1191P3
,
LIN9
,
RNA5SP18
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48462471
variant
9.

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
10.

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
11.

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
12.

nsv4450583

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RGS18
,
LINC02257
,
RNA5SP79
,
ZP4
,
C1orf35
,
LOC101060016
,
LOC100271717
,
LOC100130137
,
LINC00303
,
LOC100420255
,
MIR1537
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
49616218
variant
13.

nsv3881012

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105372928
,
OR2T27
,
LOC107985251
,
RNA5S12
,
IRF6
,
LOC105373163
,
TRK-TTT3-2
,
GPATCH2
,
HHIPL2
,
LOC105371694
,
VASH2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48444367
variant
14.

nsv6634372

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105373279
,
YBX1P9
,
RPL34P6
,
OR14C36
,
MIPEPP2
,
DSTYK
,
LINC01737
,
CDCA4P3
,
VN1R5
,
TMEM9
,
RNU6-1089P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
54348675
variant
15.

nsv4674140

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNA5S8
,
NTPCR
,
ZNF496-DT
,
OR2L8
,
PTPN14
,
RPL13AP11
,
LEFTY3P
,
LINC01132
,
OR2L13
,
ACBD3-AS1
,
MIR215
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
50270965
variant
16.

nsv3897747

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RPS18P3
,
LOC128136
,
OR2T33
,
LINC02779
,
LOC105373224
,
CDKN2AIPNLP1
,
RNU6-725P
,
LOC105372906
,
ZNF124
,
TUBB8P6
,
LOC100420420
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48461102
variant
17.

nsv3890682

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
HLX
,
LOC107985281
,
HMGB1P26
,
PROX1
,
MTCO3P46
,
LYPD8
,
RPS24P4
,
ITPKB-IT1
,
OR2T5
,
UBA5P1
,
XRCC6P3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48454037
variant
18.

nsv3892818

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105373046
,
MIR4677
,
HHAT
,
LOC105373235
,
RN7SL344P
,
TBCE
,
BROX
,
LOC105373258
,
YWHAQP9
,
OR6F1
,
TAF5L
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48456173
variant
19.

nsv4684187

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
HLX-AS1
,
OPN3
,
RPL23AP15
,
TRIM17
,
LINC02474
,
LOC101927604
,
LOC105372906
,
LOC107985100
,
RPS11P2
,
TSNAX
,
LOC105373224
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
50287310
variant
20.

nsv3892503

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
HMGN2P19
,
RNA5S2
,
RPLP0P5
,
JMJD4
,
ZNF695
,
MTRNR2L11
,
RNU6-1089P
,
RN7SKP55
,
VN1R5
,
NTPCR
,
PARP1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48455858
variant
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