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Items: 12

1.

nsv6636064

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
UQCRH
Location information:
Clinical significance:
Pathogenic
ID:
54354893
variant
2.

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
3.

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
4.

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
5.

nsv6313688

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC107984940
,
PPIAP36
,
AIRIM
,
EFCAB14P1
,
RPS29P6
,
LOC100328982
,
SLC6A9
,
NFYC-AS1
,
RNA5SP47
,
SMAP2
,
GJB5
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53677559
variant
6.

nsv3888489

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CDKN2C
,
CYP4A11
,
CYP4B1
,
ELAVL4
,
EPS15
,
FAAH
,
FOXE3
,
FOXD2
,
IPP
,
MUTYH
,
NASP
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
48451844
variant
7.

nsv4436181

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LINC01776
,
IGSF21-AS1
,
BRI3P1
,
LINC01635
,
ACOT11
,
RPL23AP17
,
NFYC
,
RPL7L1P22
,
EPHA2-AS1
,
SH3BGRL3
,
ECE1-AS1
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
49579785
variant
8.

nsv3889597

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
NENFP1
,
EFCAB14
,
TEX38
,
LOC105378694
,
LURAP1
,
LRRC41
,
LOC105378697
,
POMGNT1
,
P3R3URF
,
LINC01398
,
DMBX1
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48452952
variant
9.

nsv3882928

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PIK3R3
,
TSPAN1
,
MOB3C
,
P3R3URF
,
LURAP1
,
POMGNT1
,
NSUN4
,
MKNK1-AS1
,
LOC105378697
,
LINC01398
,
DMBX1
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48446283
variant
10.

nsv3884951

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ATPAF1
,
MKNK1
,
EFCAB14
,
NENFP1
,
LINC01398
,
LRRC41
,
DMBX1
,
LOC105378697
,
UQCRH
,
CYP4B1
,
TMEM275
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48448306
variant
11.

nsv4674638

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
UQCRH
,
MKNK1-AS1
,
NENFP1
,
FAAHP1
,
TEX38
,
EFCAB14
,
DMBX1
,
LRRC41
,
TMEM275
,
KNCN
,
NSUN4
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
50271463
variant
12.

nsv4674480

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LRRC41
,
TSPAN1
,
PIK3R3
,
FAAH
,
P3R3URF-PIK3R3
,
MAST2
,
LOC101929626
,
RAD54L
,
P3R3URF
,
POMGNT1
,
LURAP1
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
50271305
variant
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