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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYROXD1, RECQL
(S620*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
PYROXD1, RECQL
(N619I)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
PYROXD1, RECQL
(C606F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PYROXD1, RECQL
(S603F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PYROXD1, RECQL
(E601*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PYROXD1, RECQL
Insertion
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PYROXD1, RECQL
Deletion
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PYROXD1, RECQL
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PYROXD1, RECQL
(T594M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PYROXD1, RECQL
(H584Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PYROXD1, RECQL
(A565G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
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