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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001411, RECQL4
(Q54R)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign/Likely benign
LOC130001411, RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
LOC130001411, RECQL4
(Q28*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC130001411, RECQL4
(R3W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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