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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RECQL4
Deletion
(splice acceptor variant +1 more)
Baller-Gerold syndrome
Gnot provided
RECQL4
(I1051V)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
Gnot provided
RECQL4
(R1021W)
Single nucleotide variant
(missense variant)
RECQL4-related condition
+1 more
GPathogenic
RECQL4
Single nucleotide variant
(splice acceptor variant)
Baller-Gerold syndrome
+2 more
GPathogenic/Likely pathogenic
RECQL4
(S836fs)
Deletion
(frameshift variant)
Baller-Gerold syndrome
Gnot provided
RECQL4
(H831fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
RECQL4
(D779fs)
Deletion
(frameshift variant)
Baller-Gerold syndrome
Gnot provided
RECQL4
(E714fs)
Microsatellite
(frameshift variant)
Baller-Gerold syndrome
GPathogenic
RECQL4
Single nucleotide variant
(splice acceptor variant)
Baller-Gerold syndrome
GPathogenic
RECQL4
Single nucleotide variant
(splice acceptor variant)
Baller-Gerold syndrome
GPathogenic
RECQL4
Single nucleotide variant
(splice acceptor variant)
Rothmund-Thomson syndrome type 2
GPathogenic
RECQL4
Deletion
(frameshift variant)
Rapadilino syndrome
+7 more
GPathogenic
RECQL4
(Q166*)
Single nucleotide variant
(nonsense)
Baller-Gerold syndrome
Gnot provided
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