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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
LOC111501769, LOC112590812
+339 more
Copy number loss
See cases
GPathogenic
MIGA1, MIR101-1
+558 more
Copy number loss
See cases
GPathogenic
ACADM, AK4
+331 more
Copy number loss
See cases
GPathogenic
DEPDC1, DEPDC1-AS1
+270 more
Copy number loss
See cases
GPathogenic
AK4, ANKRD13C
+210 more
Copy number gain
See cases
GPathogenic
ACADM, ANKRD13C
+165 more
Copy number loss
See cases
GPathogenic
ACADM, AK5
+188 more
Duplication
not specified
GUncertain significance
ANKRD13C, ANKRD13C-DT
+80 more
Copy number loss
See cases
GPathogenic
LINC01788, LOC129388549
+8 more
Copy number gain
See cases
GLikely benign
PTGER3, ZRANB2-AS1
(G274S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PTGER3, ZRANB2-AS1
(S232P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PTGER3, ZRANB2-AS1
(W164R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PTGER3, ZRANB2-AS1
(L72F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PTGER3, ZRANB2-AS1
(P41A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PTGER3, ZRANB2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
PTGER3, ZRANB2-AS1
(T22P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
PTGER3, ZRANB2-AS1
(R16H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PTGER3, ZRANB2-AS1
(G8E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZRANB2, ZRANB2-AS1
(H320L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZRANB2, ZRANB2-AS1
(R298C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZRANB2, ZRANB2-AS1
(R291I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZRANB2, ZRANB2-AS1
(R289H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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