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Items: 1 to 100 of 269

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068573, LOC130068624
+2631 more
Duplication
Schizophrenia
+1 more
GPathogenic
VAMP7, VBP1
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
LOC130068116, LOC130068117
+2633 more
Copy number gain
See cases
GPathogenic
NAA10, NALF2
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1398 more
Copy number gain
See cases
GPathogenic
LOC130068159, LOC130068160
+2633 more
Copy number gain
See cases
GPathogenic
LOC111365170, LOC111365174
+2633 more
Copy number loss
See cases
GPathogenic
LOC110120679, LOC110120680
+2633 more
Copy number gain
See cases
GPathogenic
ITGB1BP2, ITIH6
+2632 more
Copy number gain
See cases
GPathogenic
GK, GK-AS1
+1475 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1628 more
Copy number loss
See cases
GPathogenic
LOC130068277, LOC130068278
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1932 more
Copy number loss
See cases
GPathogenic
LOC126863344, LOC126863345
+2632 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number loss
See cases
GPathogenic
LOC130068156, LOC130068157
+2632 more
Copy number loss
See cases
GPathogenic
LOC125467792, LOC125467793
+2628 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2628 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
VCX3B, VEGFD
+2633 more
Copy number loss
See cases
GPathogenic
CENPVL1, CENPVL2
+2632 more
Copy number gain
See cases
GPathogenic
CT47A6, CT47A7
+2632 more
Copy number gain
See cases
GPathogenic
LOC116309160, LOC116309161
+2631 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number loss
See cases
GPathogenic
CTPS2, CUL4B
+2631 more
Copy number gain
See cases
GPathogenic
LOC130068611, LOC130068612
+2632 more
Copy number loss
See cases
GPathogenic
LOC130068404, LOC130068405
+2632 more
Copy number loss
See cases
GPathogenic
GPR101, GPR119
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ACE2
+1798 more
Copy number gain
See cases
GPathogenic
LOC109396974, LOC109504725
+2632 more
Copy number gain
See cases
GPathogenic
WDR13, WDR44
+2632 more
Copy number loss
See cases
Gconflicting data from submitters
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
LINC00629, LINC00630
+2632 more
Copy number gain
See cases
GPathogenic
MIR1321, MIR1468
+1493 more
Copy number loss
See cases
GPathogenic
TSR2, TXLNG
+2611 more
Copy number loss
See cases
GPathogenic
DMRTC1, DMRTC1B
+2603 more
Copy number gain
See cases
GPathogenic
MIR1468, MIR1587
+2598 more
Copy number gain
Klinefelter syndrome
GPathogenic
DLG3, DLG3-AS1
+2593 more
Copy number gain
See cases
GPathogenic
LOC116309156, LOC116309157
+2593 more
Copy number gain
See cases
GPathogenic
LOC130068344, LOC130068345
+2595 more
Copy number gain
See cases
GPathogenic
LOC129391311, LOC129391312
+2585 more
Copy number gain
See cases
GPathogenic
SYTL4, SYTL5
+2046 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2102 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2098 more
Copy number loss
See cases
GPathogenic
LOC130068430, LOC130068431
+640 more
Copy number loss
See cases
GPathogenic
LOC130068386, LOC130068387
+824 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1590 more
Copy number loss
See cases
GPathogenic
EDA2R, EFNB1
+410 more
Copy number loss
See cases
GPathogenic
ABCB7, AMER1
+269 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1476 more
Copy number loss
See cases
GPathogenic
LOC126863296, LOC126863297
+1467 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1467 more
Copy number gain
See cases
GPathogenic
LOC126863270, LOC126863271
+263 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1466 more
Copy number gain
See cases
GPathogenic
LOC130068371, LOC130068372
+1464 more
Copy number loss
See cases
GPathogenic
KIF4A, LOC130068402
+206 more
Duplication
Xq13q21 duplication
GPathogenic
TEX11, TSIX
+206 more
Copy number gain
See cases
GPathogenic
MIR421, MIR545
+175 more
Copy number gain
See cases
GPathogenic
ABCB7, ARR3
+161 more
Copy number gain
See cases
GPathogenic
LOC130068418, LOC130068419
+44 more
Copy number gain
See cases
GUncertain significance
CXCR3, CXorf49
+45 more
Copy number gain
See cases
GUncertain significance
NONO
(K5I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NONO
(H22Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
Deletion
(inframe_deletion +1 more)
Syndromic X-linked intellectual disability 34
+1 more
GUncertain significance
NONO
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
NONO
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
NONO
Duplication
(inframe_insertion +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
NONO
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
NONO
Indel
(missense variant +1 more)
not provided
GUncertain significance
NONO
(Q35*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
NONO
(Q35P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
(Q35H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
(P36fs)
Deletion
(frameshift variant +1 more)
Syndromic X-linked intellectual disability 34
GPathogenic
NONO
(P36L)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability 34
GUncertain significance
NONO
(P39L)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
NONO
(P40R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
(I41V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NONO
(A48S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
NONO
Microsatellite
(splice donor variant +1 more)
Syndromic X-linked intellectual disability 34
GPathogenic
NONO
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
NONO
Single nucleotide variant
(intron variant)
not provided
GBenign
NONO
(G66R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
(K68fs)
Microsatellite
(frameshift variant +1 more)
Syndromic X-linked intellectual disability 34
GPathogenic
NONO
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NONO
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NONO
(K68N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NONO
(R73*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
NONO
(F77fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
NONO
(P83fs)
Deletion
(frameshift variant +1 more)
Heart, malformation of
GLikely pathogenic
NONO
(P82fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
NONO
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NONO
(K3fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability 34
GLikely pathogenic
NONO
(F5fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability 34
GPathogenic
NONO
(A100fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability 34
GPathogenic
NONO
(V103A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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