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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
ABHD14A, ABHD14A-ACY1
+197 more
Copy number loss
See cases
GLikely pathogenic
ACTR8, ARHGEF3
+53 more
Copy number loss
See cases
GUncertain significance
DCP1A
(N455K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(S487P +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(P421S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(A288V +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DCP1A
(G267D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(H245R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(G265A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(H293Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(L283F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(T347S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(S180G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(V293D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(Q209K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(P165R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(L193I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(S131F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1A
(D139N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(R59Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(V125A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCP1A
(S62Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DCP1A
(E51V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1A
(Y22C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1A
(A7G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1A
(A3V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD14A, ABHD14B
+86 more
Copy number loss
not specified
GPathogenic
ACY1, ALAS1
+35 more
Deletion
not provided
GUncertain significance
DCP1A, ITIH1
+10 more
Copy number gain
not provided
GUncertain significance
DCP1A, ITIH1
+10 more
Copy number gain
not provided
GUncertain significance
DCP1A, PRKCD
+3 more
Copy number gain
not specified
GUncertain significance
AMT, APEH
+177 more
Copy number gain
not provided
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
CMTM6, CMTM7
+1054 more
Copy number gain
See cases
GPathogenic
ABHD6, ACOX2
+66 more
Copy number loss
See cases
GPathogenic
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