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Items: 1 to 100 of 265

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
HMGN5, HNRNPH2
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068194, LOC130068195
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863191, LOC126863192
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068432, LOC130068433
+2633 more
Copy number loss
See cases
GPathogenic
IL1RAPL1, IL2RG
+1398 more
Copy number gain
See cases
GPathogenic
LOC130068031, LOC130068032
+2633 more
Copy number gain
See cases
GPathogenic
LOC110120594, LOC110120595
+2633 more
Copy number loss
See cases
GPathogenic
LOC130067964, LOC130067965
+2633 more
Copy number gain
See cases
GPathogenic
CT45A7, CT45A8
+2632 more
Copy number gain
See cases
GPathogenic
ASMT, ASMTL
+1475 more
Copy number loss
See cases
GPathogenic
LOC129391293, LOC129391294
+1628 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
FANCB, FGD1
+1932 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+2632 more
Copy number gain
See cases
GPathogenic
TIMM8A, TIMP1
+2631 more
Copy number loss
See cases
GPathogenic
LOC119407398, LOC119407399
+2632 more
Copy number loss
See cases
GPathogenic
FAM223B, FAM226A
+2628 more
Copy number loss
See cases
GPathogenic
LOC126863207, LOC126863208
+2628 more
Copy number gain
See cases
GPathogenic
LOC130068458, LOC130068459
+2633 more
Copy number gain
See cases
GPathogenic
LOC113875011, LOC113875012
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
LOC130068362, LOC130068363
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number gain
See cases
GPathogenic
LOC130068054, LOC130068055
+2631 more
Copy number loss
See cases
GPathogenic
LOC126863302, LOC126863303
+2631 more
Copy number gain
See cases
GPathogenic
LOC119407406, LOC119407407
+2632 more
Copy number loss
See cases
GPathogenic
ACOT9, ABCB7
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863301, LOC126863302
+2632 more
Copy number gain
See cases
GPathogenic
LOC130067921, LOC130067922
+1798 more
Copy number gain
See cases
GPathogenic
LOC126863205, LOC126863206
+2632 more
Copy number gain
See cases
GPathogenic
LOC107985687, LOC107988021
+2632 more
Copy number loss
See cases
Gconflicting data from submitters
LOC130067947, LOC130067948
+2632 more
Copy number gain
See cases
GPathogenic
CT45A3, CT45A5
+2632 more
Copy number gain
See cases
GPathogenic
LOC129391306, LOC129391307
+1493 more
Copy number loss
See cases
GPathogenic
CDKL5, CDR1
+2611 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2603 more
Copy number gain
See cases
GPathogenic
LOC126863296, LOC126863297
+2593 more
Copy number gain
See cases
GPathogenic
LOC130068368, LOC130068369
+2593 more
Copy number gain
See cases
GPathogenic
LOC130067891, LOC130067892
+2595 more
Copy number gain
See cases
GPathogenic
LOC130068100, LOC130068101
+2585 more
Copy number gain
See cases
GPathogenic
ABCB7, ACE2
+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
ABCB7, AKAP4
+640 more
Copy number loss
See cases
GPathogenic
ABCB7, ACSL4
+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
LOC113875008, LOC113875009
+1467 more
Copy number gain
See cases
GPathogenic
LOC130068588, LOC130068589
+1467 more
Copy number gain
See cases
GPathogenic
LOC126863270, LOC126863271
+263 more
Copy number gain
See cases
GPathogenic
LOC116309158, LOC116309159
+1466 more
Copy number gain
See cases
GPathogenic
GPRASP2, GPRASP3
+1464 more
Copy number loss
See cases
GPathogenic
KIF4A, LOC130068402
+206 more
Duplication
Xq13q21 duplication
GPathogenic
ABCB7, AR
+206 more
Copy number gain
See cases
GPathogenic
LINC00891, LOC100132741
+175 more
Copy number gain
See cases
GPathogenic
ABCB7, ARR3
+161 more
Copy number gain
See cases
GPathogenic
CXCR3, CXorf65
+44 more
Copy number gain
See cases
GUncertain significance
CXCR3, CXorf49
+45 more
Copy number gain
See cases
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
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
NONO
(H106fs +1 more)
Microsatellite
(frameshift variant)
Syndromic X-linked intellectual disability 34
GLikely pathogenic
NONO
Deletion
(splice donor variant)
Syndromic X-linked intellectual disability 34
GLikely pathogenic
NONO
Deletion
(splice donor variant)
Syndromic X-linked intellectual disability 34
GLikely pathogenic
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