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Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 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
AOPEP, ASPN
+268 more
Copy number loss
See cases
GPathogenic
LOC132089736, LOC132089737
+313 more
Copy number gain
See cases
GPathogenic
ANP32B, AOPEP
+197 more
Copy number loss
See cases
GPathogenic
FANCC, HABP4
+94 more
Copy number loss
Gorlin syndrome
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
CDC14B, HABP4
+32 more
Copy number gain
See cases
GPathogenic
CDC14B
(R459H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDC14B
(K455E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDC14B
(S446R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDC14B
(T423I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDC14B, LOC126860691
(N400S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B, LOC126860691
(E414A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B, LOC126860691
(E391K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B, LOC126860691
(L393F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B, LOC126860691
(K342R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CDC14B, LOC126860691
(R352H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(I292V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(T253I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(A286V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(H244R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(D279N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(R235H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(K271R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(Q205K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(I197M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(N213H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(H207R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(N175S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(C159Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(S172G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(S101C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(L85S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(M59V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(A64T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(I52V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(Q36H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(G27A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(P26A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(S23W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(A13V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC14B
(S5T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
CARD19, MIR24-1
+106 more
Deletion
not provided
GPathogenic
ANKS6, ANP32B
+596 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ABCA1, ABHD17B
+261 more
Copy number gain
not specified
GLikely pathogenic
OR1L4, PTRH1
+768 more
Copy number gain
not specified
GPathogenic
MSANTD3, MSANTD3-TMEFF1
+87 more
Copy number loss
Gorlin syndrome
GPathogenic
PRXL2C, TBC1D2
+55 more
Deletion
Intellectual disability
GPathogenic
TSTD2, XPA
+84 more
Copy number loss
See cases
GPathogenic
IFNA16, NTRK2
+326 more
Inversion
Recurrent spontaneous abortion
+1 more
GLikely pathogenic
CDC14B, HABP4
+4 more
Copy number loss
not provided
GUncertain significance
CDC14B, ERCC6L2
+5 more
Copy number loss
not provided
GPathogenic
ABCA1, ABCA2
+552 more
Copy number gain
not provided
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not provided
GPathogenic
SEC16A, SEC61B
+553 more
Copy number gain
Hypotonia
+2 more
GLikely pathogenic
ABCA1, ABCA2
+769 more
Copy number gain
See cases
GPathogenic
CDC14B, PRXL2C
+1 more
Copy number loss
See cases
GLikely benign
AOPEP, CCDC180
+26 more
Copy number loss
See cases
GPathogenic
ALG2, ANKS6
+40 more
Copy number gain
See cases
GLikely pathogenic
UBQLN1, UCK1
+771 more
Copy number gain
See cases
GPathogenic
AOPEP, CDC14B
+17 more
Copy number loss
See cases
GPathogenic
ANGPTL2, ANKRD18A
+771 more
Copy number gain
See cases
GPathogenic
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