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Links from MedGen

Items: 1 to 100 of 203

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Single nucleotide variant
Rothmund-Thomson syndrome type 2
GUncertain significance
Single nucleotide variant
Rothmund-Thomson syndrome type 2
GPathogenic
RECQL4
Deletion
(inframe_indel +1 more)
Rothmund-Thomson syndrome type 2
GUncertain significance
RECQL4
Deletion
(intron variant)
Rothmund-Thomson syndrome type 2
GUncertain significance
RECQL4
(T457I +13 more)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(P120R +1 more)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(G1113A)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
GUncertain significance
RECQL4
(D104E)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
GUncertain significance
RECQL4
(A330fs)
Duplication
(frameshift variant)
Baller-Gerold syndrome
+1 more
GPathogenic
RECQL4
(D808N)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(K1154del)
Deletion
(inframe_deletion)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(M358R)
Single nucleotide variant
(missense variant)
Rapadilino syndrome
+2 more
GUncertain significance
RECQL4
(G1166D)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(R766fs)
Deletion
(frameshift variant)
Rapadilino syndrome
+2 more
GBenign
RECQL4
(Q377R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
RECQL4
Single nucleotide variant
(intron variant)
Rapadilino syndrome
+3 more
GBenign
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+1 more
GConflicting classifications of pathogenicity
RECQL4
(Q884fs)
Deletion
(frameshift variant)
Baller-Gerold syndrome
+2 more
GPathogenic/Likely pathogenic
RECQL4, LOC130001411
(T38N)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
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
(R758P)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(S564C)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(H575fs +1 more)
Microsatellite
(frameshift variant +1 more)
Rothmund-Thomson syndrome type 2
GPathogenic
RECQL4
(C1088Y)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(V985L)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(E431K)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(L927R)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GConflicting classifications of pathogenicity
RECQL4
(C707Y)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(A480D)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(L179Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(D424N)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 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
(V1132G)
Single nucleotide variant
(splice donor variant +1 more)
Baller-Gerold syndrome
+1 more
GLikely pathogenic
RECQL4
(R766W)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
GUncertain significance
RECQL4
(E216K)
Single nucleotide variant
(missense variant)
Rapadilino syndrome
+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
(R1182H)
Single nucleotide variant
(missense variant)
RECQL4-related disorder
+2 more
GUncertain significance
RECQL4
(G124D)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+2 more
GUncertain significance
RECQL4
(P298S)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(I496M)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+3 more
GConflicting classifications of pathogenicity
RECQL4
(A289T)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GConflicting classifications of pathogenicity
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
(L927P)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(R248C)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(Q567*)
Single nucleotide variant
(nonsense)
Rothmund-Thomson syndrome type 2
+1 more
GPathogenic
RECQL4
(R766Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
Deletion
(splice acceptor variant)
Baller-Gerold syndrome
+2 more
GPathogenic/Likely pathogenic
RECQL4
(G1105R)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(R946H)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
GUncertain significance
RECQL4
(R618W)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
LOC130001411, RECQL4
(E9K)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+4 more
GConflicting classifications of pathogenicity
RECQL4
(P230S)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(Q377L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
(H635Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RECQL4
(M680T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RECQL4
(R1096H)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(R370C)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(R1096C)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(F1077L)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(T690M)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GConflicting classifications of pathogenicity
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+1 more
GLikely benign
RECQL4
(S234C)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+1 more
GLikely benign
RECQL4
(R182P)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+1 more
GLikely benign
RECQL4
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
RECQL4
(R1005W)
Single nucleotide variant
(missense variant)
RECQL4-related disorder
+4 more
GUncertain significance
RECQL4
Single nucleotide variant
(synonymous variant)
RECQL4-related disorder
+3 more
GLikely benign
RECQL4
Single nucleotide variant
(synonymous variant)
Baller-Gerold syndrome
+2 more
GLikely benign
RECQL4
(A919T)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+1 more
GUncertain significance
RECQL4
(R848H)
Single nucleotide variant
(missense variant)
Rothmund-Thomson syndrome type 2
+5 more
GConflicting classifications of pathogenicity
RECQL4
(R826Q)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance
RECQL4
(R804W)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+3 more
GUncertain significance
RECQL4
(E796K)
Single nucleotide variant
(missense variant)
Rapadilino syndrome
+2 more
GUncertain significance
RECQL4
(I716M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
(E71A)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GConflicting classifications of pathogenicity
RECQL4
(R696C)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GUncertain significance
RECQL4
(V678M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
Single nucleotide variant
(synonymous variant)
Baller-Gerold syndrome
+1 more
GLikely benign
RECQL4
Single nucleotide variant
(synonymous variant)
Baller-Gerold syndrome
+3 more
GLikely benign
RECQL4
(C389fs)
Microsatellite
(frameshift variant)
Rothmund-Thomson syndrome type 2
+2 more
GPathogenic/Likely pathogenic
RECQL4
Single nucleotide variant
(intron variant)
Rapadilino syndrome
+2 more
GConflicting classifications of pathogenicity
RECQL4
(R365Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
RECQL4
(R629W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RECQL4
(E301K)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+2 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
RECQL4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(synonymous variant)
Rothmund-Thomson syndrome type 2
+2 more
GLikely benign
RECQL4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(synonymous variant)
Baller-Gerold syndrome
+3 more
GBenign/Likely benign
RECQL4
Single nucleotide variant
(intron variant)
Rothmund-Thomson syndrome type 2
+3 more
GBenign/Likely benign
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