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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCA, ZNF276
(A1435T)
Single nucleotide variant
(missense variant +2 more)
FANCA-related disorder
+4 more
GConflicting classifications of pathogenicity
FANCA, ZNF276
(A1434V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FANCA, ZNF276
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FANCA, ZNF276
(V1369M)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
FANCA, ZNF276
(A1357fs)
Deletion
(frameshift variant +2 more)
not provided
+2 more
GPathogenic
ZNF276, FANCA
(A1346V)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FANCA, ZNF276
(L1339F)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FANCA, ZNF276
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ZNF276, FANCA
(A1284T)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
FANCA, ZNF276
(A1284P)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+2 more
GConflicting classifications of pathogenicity
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