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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001752, LOC130001753
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001539, LOC130001540
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001810, LOC130001811
+1213 more
Copy number gain
See cases
GPathogenic
BSPRY, C5
+3784 more
Copy number gain
See cases
GPathogenic
LOC113839508, LOC113839509
+3785 more
Copy number gain
See cases
GPathogenic
FKBP15, FKTN
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+1061 more
Copy number gain
See cases
GPathogenic
LOC113839555, LOC113839556
+1119 more
Copy number gain
See cases
GPathogenic
LOC130001667, LOC130001668
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+882 more
Copy number gain
See cases
GPathogenic
PUM3, QNG1
+1366 more
Copy number gain
See cases
GPathogenic
LOC116186942, LOC116186943
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001472, LOC130001473
+983 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LOC130001648, LOC130001649
+898 more
Copy number gain
See cases
GPathogenic
LOC121366033, LOC121366034
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001569, LOC130001570
+897 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
LOC130001690, LOC130001691
+585 more
Copy number gain
See cases
GPathogenic
LOC130001818, LOC130001819
+690 more
Copy number gain
See cases
GPathogenic
LOC126860615, LOC126860616
+435 more
Copy number gain
See cases
GLikely pathogenic
LOC130001735, LOC130001736
+503 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
ANKRD18B, ARID3C
+71 more
Copy number gain
not specified
GUncertain significance
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
CNTFR, CNTFR-AS1
(A22T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
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