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Items: 1 to 100 of 316

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068431, LOC130068432
+2632 more
Duplication
Autism
+1 more
GPathogenic
KLHL13, KLHL15
+2634 more
Copy number loss
See cases
GPathogenic
LOC126863269, LOC126863270
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068436, LOC130068437
+2634 more
Copy number gain
See cases
GPathogenic
CSAG1, CSAG2
+2634 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1399 more
Copy number gain
See cases
GPathogenic
LOC130068322, LOC130068323
+2634 more
Copy number gain
See cases
GPathogenic
AMELX, AMER1
+2634 more
Copy number loss
See cases
GPathogenic
LOC126863254, LOC126863255
+2634 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068048, LOC130068049
+1476 more
Copy number loss
See cases
GPathogenic
ASMTL-AS1, ATP6AP2
+1629 more
Copy number loss
See cases
GPathogenic
DCAF8L1, DCAF8L2
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068203, LOC130068204
+1933 more
Copy number loss
See cases
GPathogenic
GPC4, GPKOW
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC126863275, LOC126863276
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2629 more
Copy number loss
See cases
GPathogenic
ACSL4, ACTRT1
+2629 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
NLGN3, NLGN4X
+2634 more
Copy number loss
See cases
GPathogenic
LOC121853053, LOC121853054
+2633 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC126863325, LOC126863326
+2632 more
Copy number gain
See cases
GPathogenic
AMELX, AMER1
+2632 more
Copy number loss
See cases
GPathogenic
LOC130068015, LOC130068010
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number loss
See cases
GPathogenic
LOC126863191, LOC126863192
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068490, LOC130068491
+1799 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number loss
See cases
Gconflicting data from submitters
LOC130068278, LOC130068279
+2633 more
Copy number gain
See cases
GPathogenic
LOC119407413, LOC119407414
+2633 more
Copy number gain
See cases
GPathogenic
FOXP3, FOXR2
+1494 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2612 more
Copy number loss
See cases
GPathogenic
LINC01545, LINC01546
+2604 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
LOC130068152, LOC130068153
+2594 more
Copy number gain
See cases
GPathogenic
LOC130068468, LOC130068469
+2594 more
Copy number gain
See cases
GPathogenic
LOC130067984, LOC130067985
+2596 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2586 more
Copy number gain
See cases
GPathogenic
ABCB7, ACE2
+2047 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2103 more
Copy number loss
See cases
GPathogenic
VAMP7, VBP1
+2099 more
Copy number loss
See cases
GPathogenic
RPL36A, RPL36A-HNRNPH2
+640 more
Copy number loss
See cases
GPathogenic
ABCB7, ACSL4
+824 more
Copy number loss
See cases
GPathogenic
LOC130068846, LOC130068847
+1590 more
Copy number loss
See cases
GPathogenic
ABCB7, ALAS2
+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
LOC113875039, LOC114022705
+1467 more
Copy number gain
See cases
GPathogenic
FAM236D, FAM3A
+1467 more
Copy number gain
See cases
GPathogenic
GJB1, HDAC8
+263 more
Copy number gain
See cases
GPathogenic
SMARCA1, SMIM10
+1466 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1464 more
Copy number loss
See cases
GPathogenic
ABCB7, AR
+206 more
Duplication
Xq13q21 duplication
GPathogenic
ABCB7, AR
+206 more
Copy number gain
See cases
GPathogenic
FTX, GCNA
+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)
not provided
+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)
not provided
+1 more
GUncertain significance
NONO
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
NONO
Deletion
(intron variant)
not provided
GLikely benign
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)
See cases
+2 more
GUncertain significance
NONO
(P40S)
Single nucleotide variant
(missense variant +1 more)
NONO-related disorder
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
GUncertain significance
NONO
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NONO
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 34
+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
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