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Items: 74

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
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+253 more
Copy number loss
See cases
GPathogenic
LOC126860732, LOC126860733
+514 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+514 more
Copy number loss
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
TEX10
(I899T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(T893A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(H860Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(G837R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(N850D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(M843V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(T810S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(I757V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(V736I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(G704E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(D677E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(H661R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(L649W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(S651N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(P614S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(S594N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(I576V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(R550C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(I530L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(L522S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(T499I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(N480S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(S472C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(T422I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(S400N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(D390A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(G345R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(Q280H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(I282V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(A273T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(F266L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(S223F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(E135Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(Q123R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(V103M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(E105D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(L44F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(K36E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(T29A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX10
(R7C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ABCA1, ALDOB
+34 more
Copy number loss
not specified
GPathogenic
CARD19, MIR24-1
+106 more
Deletion
not provided
GPathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ATOSB, ATP6V1G1
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ABCA1, ABHD17B
+261 more
Copy number gain
not specified
GLikely pathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
ALDOB, ALG2
+87 more
Copy number loss
Gorlin syndrome
GPathogenic
ABCA1, ALDOB
+34 more
Copy number gain
not provided
GUncertain significance
PRXL2C, TBC1D2
+55 more
Deletion
Intellectual disability
GPathogenic
TSTD2, XPA
+84 more
Copy number loss
See cases
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
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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