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Items: 1 to 100 of 489

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
APOOL, LOC130067933
+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
CITED1, ERCC6L
+19 more
Copy number gain
See cases
GLikely benign
HDAC8
(V285M +4 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
+1 more
GUncertain significance
HDAC8
(L347M +4 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
Deletion
(splice acceptor variant)
Cornelia de Lange syndrome 1
GPathogenic
HDAC8
(N281D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HDAC8
Single nucleotide variant
(splice acceptor variant)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Deletion
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
not provided
GBenign
HDAC8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HDAC8
(T302M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Deletion
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GBenign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GBenign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GBenign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
Single nucleotide variant
(splice donor variant)
Cornelia de Lange syndrome 5
+1 more
GConflicting classifications of pathogenicity
HDAC8
(E280K +4 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
(I343V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(I271T +2 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
(R270Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GBenign
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(R361* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cornelia de Lange syndrome 5
GPathogenic
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(R265C +2 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(D264Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HDAC8
(R262Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(S351T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
HDAC8
(T258M +2 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
+1 more
GLikely benign
DMRTC1, DMRTC1B
+11 more
Copy number gain
See cases
GUncertain significance
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