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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003132, LOC130003133
+1210 more
Copy number gain
See cases
GPathogenic
ADGRD2, ARPC5L
+172 more
Copy number loss
See cases
GPathogenic
AK1, ANGPTL2
+250 more
Copy number loss
See cases
GPathogenic
LOC130002608, PBX3
(L8V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130002608, PBX3
(P31S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130002608, PBX3
(I56V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130002608, PBX3
(D58H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PBX3
(H74R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
PBX3
(A4V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PBX3
(A4G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PBX3
(G17fs +1 more)
Deletion
(frameshift variant +1 more)
X-linked cone-rod dystrophy
GLikely pathogenic
PBX3
(A130V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBX3
(A136T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBX3
(A63V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBX3
(T116I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PBX3
(E191A +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked cone-rod dystrophy
GUncertain significance
PBX3
(K220N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PBX3
(A241fs +1 more)
Duplication
(frameshift variant +1 more)
X-linked cone-rod dystrophy
GLikely pathogenic
PBX3
(A241fs +1 more)
Insertion
(frameshift variant +1 more)
X-linked cone-rod dystrophy
GLikely pathogenic
PBX3
(Q376R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PBX3
(Q288P +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PBX3
(G293R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PBX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PBX3
(R379H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PBX3
(H380R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PBX3
(T385M +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PBX3
(H354R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PBX3
(S430L +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ADGRD2, ANGPTL2
+59 more
Copy number loss
not provided
GPathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ADGRD2, AK1
+141 more
Copy number gain
not specified
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
MAPKAP1, PBX3
Copy number gain
not provided
GUncertain significance
AK1, ANGPTL2
+75 more
Copy number gain
not provided
GPathogenic
AK1, ANGPTL2
+27 more
Copy number loss
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+228 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+279 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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