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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RECQL4
(D1142H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RECQL4
(V910I)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(M680T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
(V652M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
RECQL4
(L566P)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+5 more
GUncertain significance
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