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Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 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
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 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
LOC130001484, LOC130001485
+883 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
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
ACO1, ALDH1B1
+436 more
Copy number gain
See cases
GLikely pathogenic
ACO1, ALDH1B1
+504 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18A
+219 more
Copy number gain
See cases
GPathogenic
FBXO10, FRMPD1
+22 more
Deletion
not provided
GPathogenic
FBXO10
(T935M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(A934T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(R920C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(D901E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(A853T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(R843W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(D836N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FBXO10
(R780Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(I752F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(P714S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(D698V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(Q692E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(N668D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(S662G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(H659D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(L657R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(D625N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(N584S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(R577H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10, LOC130001802
(N553S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10, LOC130001802
(N540S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FBXO10
(I475S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(I458V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(F445V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
FBXO10
(K434E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FBXO10
(V427M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(G396E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(G386E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(V384I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(P383L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(R373K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FBXO10
(V238M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(N237S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(H212N)
Single nucleotide variant
(missense variant)
not provided
GBenign
FBXO10
(N207S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(S169N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(G145D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(E69K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO10
(P68A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALDH1B1, ANKRD18A
+45 more
Copy number loss
not provided
GPathogenic
ALDH1B1, ANKRD18A
+44 more
Copy number loss
not specified
GLikely pathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
CREB3, STOML2
+188 more
Copy number gain
not provided
GPathogenic
OR13J1, OR2S2
+87 more
Duplication
not provided
GUncertain significance
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+199 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
FBXO10, FRMPD1
+5 more
Copy number gain
See cases
GUncertain significance
ATOSB, ATP6V1G1
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ACER2, ACO1
+204 more
Copy number gain
Bradycardia
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
Tetrasomy 9p
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
SPATA31A5, SPATA31A6
+257 more
Copy number gain
not specified
GPathogenic
ACER2, ACO1
+205 more
Copy number gain
not specified
GPathogenic
ARHGEF39, ATOSB
+42 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
MELK, PAX5
+22 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ALDH1B1, ANKRD18A
+19 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
EXOSC3, FBXO10
+15 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ACO1, ANKRD18B
+91 more
Copy number gain
not provided
GLikely pathogenic
SLC25A51, POLR1E
+15 more
Copy number gain
not provided
GUncertain significance
ACER2, ACO1
+213 more
Copy number gain
not provided
GPathogenic
ANKS6, ANP32B
+326 more
Inversion
Abnormal chromosome morphology
+1 more
GLikely pathogenic
ALDH1B1, ANKRD18A
+74 more
Copy number gain
not provided
GPathogenic
CER1, CHMP5
+193 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
CNTNAP3B, CREB3
+204 more
Copy number gain
not provided
GPathogenic
GBA2, MPDZ
+195 more
Copy number gain
not provided
GPathogenic
APBA1, APTX
+185 more
Complex
Glioma
GLikely pathogenic
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