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Items: 1 to 100 of 143

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAM2, NDUFV3
+1159 more
Copy number gain
See cases
GPathogenic
PDE9A-AS1, PDXK
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066843, LOC130066844
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653343, LOC126653344
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GUncertain significance
LINC00315, LINC00316
+1160 more
Copy number gain
See cases
GPathogenic
ATP5PF, ATP5PO
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653350, LOC126653351
+1159 more
Copy number gain
See cases
GPathogenic
LINC00111, LINC00112
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
TSPEAR-AS1, TSPEAR-AS2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066578, LOC130066579
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066717, LOC130066718
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC125418051, LOC125418052
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
HSF2BP, HSPA13
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066756, LOC130066757
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
KRTAP12-3, KRTAP12-4
+1157 more
Copy number gain
See cases
GPathogenic
LOC107403153, LOC107548109
+1155 more
Copy number gain
See cases
GPathogenic
SON, SPATC1L
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066735, LOC130066736
+1156 more
Copy number loss
See cases
GPathogenic
CLIC6, KCNE1
+13 more
Copy number loss
See cases
GUncertain significance
CLIC6, LOC130066590
(G13D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(E30V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(G43A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CLIC6, LOC130066590
(E45Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(A60S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(T76M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(R77T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(G81S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(T83I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(V95M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066590
(G104S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CLIC6, LOC130066590
(P113S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(E139K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(S159N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(I170M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(V180L)
Single nucleotide variant
(missense variant)
not provided
GBenign
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(A192E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(E203D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(G214V)
Single nucleotide variant
(missense variant)
sellar metastasis from primary bronchial carcinoid tumor
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(V220A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(A222T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(E223K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(D228N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(D231E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(D241G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(E251D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Deletion
(inframe_deletion)
not provided
GBenign
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(G263R)
Single nucleotide variant
(missense variant)
Myoepithelial tumor
GUncertain significance
CLIC6
(E283K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(I311T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CLIC6
(E317D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(A327T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(A350S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CLIC6
(R373I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(R374L)
Single nucleotide variant
(missense variant)
not provided
GBenign
CLIC6
(S377R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(S397R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(E401G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(A406V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6, LOC130066591
(R436P)
Single nucleotide variant
(missense variant)
not provided
GBenign
CLIC6, LOC130066591
(D438E)
Single nucleotide variant
(missense variant)
not provided
GBenign
CLIC6
(E443K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(Q449R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(D452V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLIC6
(L481Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(A498T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(G506R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(P509R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(T520M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(K540M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(H563R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(P546L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CLIC6
(V555M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(I581V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(E596K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(G615R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CLIC6
(T619M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(K655R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLIC6
(R658K +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
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