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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATIC, FN1
(D2100N +16 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FN1
(K1900T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FN1
(L1714fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
FN1
(L1439V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FN1, LOC126806497
(P1290S +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
FN1
(V1225fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
FN1, FN1-DT
(G25E)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
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