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Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
ABI1, ACBD5
+376 more
Copy number gain
See cases
GLikely pathogenic
ANKRD30A, CCDC7
+119 more
Copy number gain
See cases
GPathogenic
EPC1
(A699T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(N663S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(T747S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(G643D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(T680I +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(V597I +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(V679M +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(R583C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(A533T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(S498fs +2 more)
Deletion
(frameshift variant +2 more)
not provided
GUncertain significance
EPC1
(G486E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EPC1
(S515N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EPC1
(N499S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(M414I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(F428C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(R390C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(W352R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(F352L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(E308K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(R265W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(P253A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(I231T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(I251V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(M293V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
EPC1
(M233T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(G226D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(E220K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(M168V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(Y65H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPC1
(P16L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCDC7, CCNY
+8 more
Copy number loss
not provided
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABI1, ACBD5
+111 more
Copy number gain
not specified
GPathogenic
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
ARHGAP12, CCDC7
+9 more
Copy number loss
not provided
GPathogenic
CCDC7, EPC1
Copy number gain
not provided
GUncertain significance
KIF5B, ZEB1
+2 more
Copy number loss
not provided
GPathogenic
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
CREM, CUL2
+10 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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