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Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RECQL4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(synonymous variant)
RECQL4-related condition
+3 more
GConflicting classifications of pathogenicity
RECQL4
(Q1145H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
RECQL4
(D1142H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
(R1131K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
RECQL4
(G1113R)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+5 more
GConflicting classifications of pathogenicity
RECQL4
(G1105D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign
RECQL4
(A1045T)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign/Likely benign
RECQL4
(L1043Q +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RECQL4
Single nucleotide variant
(synonymous variant)
Rapadilino syndrome
+3 more
GBenign
RECQL4
(R1021Q)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+5 more
GConflicting classifications of pathogenicity
RECQL4
(V1020M)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign/Likely benign
RECQL4
(Q1009*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
RECQL4
(R1005Q)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RECQL4
(M989I)
Single nucleotide variant
(missense variant)
Rapadilino syndrome
+4 more
GUncertain significance
RECQL4
(V985M)
Single nucleotide variant
(missense variant)
RECQL4-related condition
+4 more
GConflicting classifications of pathogenicity
RECQL4
(E918*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
RECQL4
(V910I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RECQL4
(P879H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
RECQL4
(S862L)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
Microsatellite
(inframe_insertion)
Rothmund-Thomson syndrome type 2
+5 more
GBenign/Likely benign
RECQL4
(V849M)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GConflicting classifications of pathogenicity
RECQL4
(R848H)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+5 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RECQL4
(R826*)
Single nucleotide variant
(nonsense)
Baller-Gerold syndrome
+4 more
GPathogenic
RECQL4
Single nucleotide variant
(splice acceptor variant)
Rothmund-Thomson syndrome type 2
+3 more
GPathogenic/Likely pathogenic
RECQL4
(G806R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign
RECQL4
(V799M)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
(P793S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
RECQL4
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
RECQL4
(V652M)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+5 more
GConflicting classifications of pathogenicity
RECQL4
(R646C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(synonymous variant)
RECQL4-related condition
+3 more
GConflicting classifications of pathogenicity
RECQL4
(P597S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RECQL4
(P591L)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
Single nucleotide variant
(intron variant)
RECQL4-related condition
+4 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RECQL4
(R562Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign
RECQL4
(C525R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RECQL4
(P524S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
RECQL4
(S523fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RECQL4
(R522C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
RECQL4
(P466L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(intron variant)
RECQL4-related condition
+2 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
(G387R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
RECQL4
(R384Q)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GConflicting classifications of pathogenicity
RECQL4
(R375H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RECQL4
Deletion
(frameshift variant)
Baller-Gerold syndrome
+3 more
GPathogenic/Likely pathogenic
RECQL4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(synonymous variant)
RECQL4-related condition
+4 more
GBenign/Likely benign
RECQL4
(G288R)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GConflicting classifications of pathogenicity
RECQL4
(S279N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RECQL4
(E267D)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
(P252L)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
RECQL4
(G189S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign/Likely benign
RECQL4
(G144D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RECQL4
(P103L)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+5 more
GConflicting classifications of pathogenicity
RECQL4
(P92L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
RECQL4
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
RECQL4
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
RECQL4
(E71G)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+5 more
GBenign
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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