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Items: 1 to 20 of 34

1.

nsv6314596

Variant type:
complex chromosomal rearrangement
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ARIH1
Location information:
Clinical significance:
Likely pathogenic
ID:
53678467
variant
2.

nsv7094303

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ARIH1
Location information:
Clinical significance:
Uncertain significance
ID:
55274492
variant
3.

nsv6309589

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
TMEM202-AS1
,
ARIH1
Location information:
Clinical significance:
Uncertain significance
ID:
53673460
variant
4.

nsv3916249

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
H3P40
,
EEF1B2P1
,
MTHFS
,
HIGD2B
,
MIR4715
,
CPEB1-AS1
,
LOC440311
,
DNAAF4-CCPG1
,
EPB42
,
PWAR4
,
LOC101929129
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48479604
variant
5.

nsv3919468

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-18P
,
GOLGA8K
,
LOC105370861
,
DNAAF4
,
TMOD3
,
HSP90B2P
,
TMED3
,
LOC105370752
,
ADPGK
,
MIR184
,
RNA5SP392
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48482823
variant
6.

nsv3913942

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SNX33
,
RNA5SP399
,
RN7SL510P
,
HMG20A
,
DNAJA4-DT
,
SALRNA3
,
LOC105370891
,
INSYN1
,
TMEM202-AS1
,
DNM1P49
,
LOC101929439
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48477297
variant
9.

nsv3900281

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MYZAP
,
JMJD7
,
GABPB1-AS1
,
ANXA2
,
PRTG
,
SNORD116-8
,
ST20
,
OR4H6P
,
LUNAR1
,
LOC101927310
,
PGBD4
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48463636
variant
10.

nsv3913581

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR4513
,
LOC727751
,
MIR1179
,
MYO5C
,
PGPEP1L
,
ARHGAP11B
,
DUOX2
,
GREM1-AS1
,
RSL24D1
,
ADAMTS7P1
,
CALML4
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48476936
variant
11.

nsv3904086

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
TMEM202
,
SNORD115-28
,
LOC107984805
,
LOC105370802
,
SNORD116-7
,
SALRNA3
,
NR2E3
,
LINC00928
,
SERF2-C15ORF63
,
INSYN1-AS1
,
DUOXA2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48467441
variant
12.

nsv3905138

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
FES
,
OR4H6BP
,
LINC01582
,
SNORD115-5
,
MIR9-3HG
,
KIF23-AS1
,
RNA5SP402
,
SNX33
,
PRC1-AS1
,
BMS1P16
,
LOC105370934
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48468493
variant
13.

nsv3892955

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
FAM81A
,
LOC105370884
,
LOC107984784
,
RNU1-77P
,
UBR1
,
MIR4509-2
,
MIR4713HG
,
NGRN
,
RNU6-380P
,
MFAP1
,
RNU6-549P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48456310
variant
14.

nsv3876912

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-953P
,
LOC105370805
,
LOC100129540
,
PDIA3
,
TTBK2
,
RNU7-111P
,
SEC11A
,
OAZ2
,
LINC01169
,
RGMA
,
FES
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48440267
variant
15.

nsv3899559

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CILP
,
HDDC3
,
HMGN1P26
,
MTND5P40
,
UBE2Q2P16
,
SLC24A1
,
HYKK
,
RN7SL438P
,
MAN2C1
,
LOC727751
,
LOC105371006
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48462914
variant
16.

nsv3917589

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
GAPDHP61
,
SNORD18B
,
NEO1
,
LOC105376722
,
LOC100421087
,
MIR6882
,
HEXA
,
LOC105370997
,
ANPEP
,
LOC105370891
,
MIR1272
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48480944
variant
17.

nsv3895615

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
KRT18P47
,
LOC727751
,
IDH3A
,
STRA6
,
UBE2Q2P8
,
CALML4
,
CERS3-AS1
,
HDDC3
,
MAN2C1
,
LOC105370980
,
THSD4
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48458970
variant
18.

nsv3899560

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
KRT8P23
,
MIR5572
,
MRPS11
,
ALPK3
,
FDPSP9
,
GOLGA6FP
,
SCAPER
,
LMAN1L
,
LOC105370933
,
TRY-GTA12-1
,
FBXO22
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48462915
variant
19.

nsv3915187

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC102724117
,
TMEM266
,
LOC646853
,
RNU6-796P
,
CCDC33
,
BNC1
,
DNM1P41
,
LOC105370935
,
TRK-CTT16-1
,
LINC02244
,
SPATA41
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48478542
variant
20.

nsv7098897

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LINC00933
,
DNM1P9
,
MRPL46
,
HIGD2B
,
EFL1P1
,
BTBD1
,
LOC105370947
,
DNAJA4
,
LINC01583
,
AAGAB
,
LINGO1-AS2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
55279530
variant
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