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Items: 59

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
LOC130001854, LOC130001855
+1367 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
LOC130001938, LOC130001939
+263 more
Copy number loss
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
FRMD3, FRMD3-AS1
(V240A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FRMD3, FRMD3-AS1
(F215L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FRMD3, FRMD3-AS1
(D513N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3, FRMD3-AS1
(A149T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3, FRMD3-AS1
(R134K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3, FRMD3-AS1
(P261S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3, FRMD3-AS1
(E94K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3, FRMD3-AS1
(P217L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(E198K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(I316V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(S152F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(E299Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(N110S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(A241T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(G231D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(R208T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(L198F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(V191G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(I129F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FRMD3
(H124R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(Y119D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(R140C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(H114R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(R40T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(D27E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(C46S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(R37W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FRMD3
(S4F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ATOSB, ATP6V1G1
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
FRMD3, GKAP1
+3 more
Copy number loss
not specified
GUncertain significance
ABCA1, ABHD17B
+261 more
Copy number gain
not specified
GLikely pathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
ANKS6, ANP32B
+326 more
Inversion
Abnormal chromosome morphology
+1 more
GLikely pathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
AGTPBP1, ASPN
+79 more
Copy number gain
not provided
GPathogenic
APBA1, APTX
+185 more
Complex
Glioma
GLikely pathogenic
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+274 more
Copy number gain
See cases
GPathogenic
ABHD17B, AGTPBP1
+74 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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