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Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RECQL4
(Y1070* +17 more)
Single nucleotide variant
(nonsense +1 more)
Rapadilino syndrome
GLikely pathogenic
RECQL4
(T457I +13 more)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(M358R)
Single nucleotide variant
(missense variant)
Rapadilino syndrome
+2 more
GUncertain significance
RECQL4
(R766fs)
Deletion
(frameshift variant)
Rapadilino syndrome
+2 more
GBenign
RECQL4
Single nucleotide variant
(intron variant)
Rapadilino syndrome
+3 more
GBenign
RECQL4
(Q884fs)
Deletion
(frameshift variant)
Baller-Gerold syndrome
+2 more
GPathogenic/Likely pathogenic
RECQL4
(Q253R)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(P1170L)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(G777W)
Single nucleotide variant
(missense variant)
Rapadilino syndrome
+2 more
GUncertain significance
RECQL4
(E431K)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(C707Y)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(A657S)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(R347fs)
Deletion
(frameshift variant)
Baller-Gerold syndrome
+2 more
GPathogenic/Likely pathogenic
RECQL4
(Q888*)
Single nucleotide variant
(nonsense)
Baller-Gerold syndrome
+3 more
GPathogenic/Likely pathogenic
RECQL4
(E216K)
Single nucleotide variant
(missense variant)
Ovarian cancer
+4 more
GConflicting classifications of pathogenicity
RECQL4
(R623C)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(E215fs)
Microsatellite
(frameshift variant)
Baller-Gerold syndrome
+2 more
GPathogenic/Likely pathogenic
RECQL4
(S156C)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(I1143T)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(V768A)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(R710H)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(V896A)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(E1120K)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(R248C)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(G1166S)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(R766Q)
Single nucleotide variant
(missense variant)
Rapadilino syndrome
+3 more
GUncertain significance
RECQL4
(R946H)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
GUncertain significance
RECQL4
(R829H)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(R1181Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(Q377L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
(R1069H)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
GUncertain significance
RECQL4
Single nucleotide variant
(synonymous variant)
Baller-Gerold syndrome
+2 more
GConflicting classifications of pathogenicity
RECQL4
(R1005W)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+4 more
GUncertain significance
RECQL4
(R848H)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+5 more
GConflicting classifications of pathogenicity
RECQL4
(R804W)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(E796K)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(R784Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(I716M)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(V678M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
(R647G)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(R631H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
RECQL4
(R618Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(T449P)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+4 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(synonymous variant)
Baller-Gerold syndrome
+3 more
GLikely benign
RECQL4
Single nucleotide variant
(intron variant)
Baller-Gerold syndrome
+2 more
GConflicting classifications of pathogenicity
RECQL4
(R629W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
(R629Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(R355Q)
Single nucleotide variant
(missense variant)
Ovarian cancer
+4 more
GConflicting classifications of pathogenicity
RECQL4
(S523fs)
Indel
(frameshift variant)
not provided
+3 more
GPathogenic
RECQL4
(R1106H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RECQL4
(R487H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
RECQL4
(R751Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+4 more
GUncertain significance
RECQL4
(G809R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
(S180N)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(R491Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
RECQL4
(H348R)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(S995T)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
LOC130001411, RECQL4
(V7G)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(R1038C)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+2 more
GUncertain significance
RECQL4
(D782N)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(R1038H)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+2 more
GUncertain significance
RECQL4
(V634M)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(E921K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
RECQL4
(R715Q)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+5 more
GUncertain significance
RECQL4
(E742D)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(R751W)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(E863K)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+2 more
GUncertain significance
RECQL4
(G1178R)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(P524S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
RECQL4
(P129S)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GConflicting classifications of pathogenicity
RECQL4
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RECQL4
(M989I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
RECQL4
(G806E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
RECQL4
Deletion
(inframe_deletion)
not provided
+3 more
GPathogenic/Likely pathogenic
RECQL4
(L700P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
RECQL4
(R521W)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+4 more
GUncertain significance
RECQL4
(E407K)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RECQL4
(G387R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
RECQL4
Single nucleotide variant
(splice donor variant)
Rapadilino syndrome
+2 more
GLikely pathogenic
RECQL4
(A550V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
RECQL4
Deletion
(frameshift variant)
Rothmund-Thomson syndrome type 2
+3 more
GPathogenic/Likely pathogenic
RECQL4
(V985M)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+3 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(synonymous variant)
Rapadilino syndrome
+3 more
GBenign
RECQL4
(L526F)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign/Likely benign
RECQL4
(R384Q)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
RECQL4
(E71G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
RECQL4
(R1058G)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+4 more
GConflicting classifications of pathogenicity
RECQL4
(R807H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
RECQL4
(R623H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
RECQL4
(L566P)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
RECQL4
(R562W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
RECQL4
(E267D)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign
RECQL4
(R1005Q)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+4 more
GBenign
RECQL4
Single nucleotide variant
(splice acceptor variant)
Rothmund-Thomson syndrome type 2
+3 more
GPathogenic/Likely pathogenic
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign
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