U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 148

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTC1
Deletion
(inframe_deletion +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
GUncertain significance
CTC1
(H726fs)
Deletion
(frameshift variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
GLikely pathogenic
CTC1
(E125fs)
Duplication
(frameshift variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
GPathogenic
CTC1
(Q268fs)
Deletion
(frameshift variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
GLikely pathogenic
CTC1
(P325S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(R1051Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(D512V)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
GUncertain significance
CTC1
(L783fs)
Deletion
(frameshift variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
GPathogenic
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+1 more
GLikely benign
CTC1
(E1136K)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(L327S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(K562*)
Duplication
(nonsense +1 more)
Inborn genetic diseases
+2 more
GPathogenic
CTC1
(E454fs)
Deletion
(frameshift variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GPathogenic/Likely pathogenic
CTC1
(P167L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
CTC1, PFAS
(R5Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
Single nucleotide variant
(intron variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
GLikely pathogenic
CTC1
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita
+1 more
GLikely pathogenic
CTC1, PFAS
(M1K)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita
+1 more
GPathogenic/Likely pathogenic
CTC1
(E861*)
Single nucleotide variant
(nonsense +1 more)
Dyskeratosis congenita
+1 more
GPathogenic
CTC1
Single nucleotide variant
(intron variant)
Cerebroretinal microangiopathy with calcifications and cysts 1
+2 more
GBenign
CTC1
(D44fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GLikely pathogenic
CTC1
(Q585*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
CTC1, PFAS
(M1L)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita
+1 more
GPathogenic/Likely pathogenic
CTC1
(R624Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(R561H)
Single nucleotide variant
(missense variant +1 more)
CTC1-related condition
+2 more
GUncertain significance
CTC1
Deletion
(inframe_deletion +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(R460C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GUncertain significance
CTC1
(T1064M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTC1
(P999H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(V141I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(R841H)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CTC1, PFAS
(Q7*)
Single nucleotide variant
(nonsense +1 more)
Dyskeratosis congenita
+1 more
GPathogenic
CTC1
(A934T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GUncertain significance
CTC1
Single nucleotide variant
(splice acceptor variant)
Dyskeratosis congenita
+1 more
GLikely pathogenic
CTC1
(G778D)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GUncertain significance
CTC1
(D791N)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GUncertain significance
CTC1
(Y373H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CTC1
Single nucleotide variant
(intron variant)
Cerebroretinal microangiopathy with calcifications and cysts 1
+2 more
GBenign/Likely benign
CTC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
+1 more
GBenign
CTC1
(S671C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(P1165L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
CTC1
(V1169I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(G414E)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(R306H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(S357fs)
Microsatellite
(frameshift variant +1 more)
Dyskeratosis congenita
+1 more
GPathogenic/Likely pathogenic
CTC1
(R589C)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+3 more
GUncertain significance
CTC1
(L1007fs)
Deletion
(frameshift variant +1 more)
CTC1-related condition
+4 more
GPathogenic
CTC1
(T1066S)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
(H945fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CTC1
(S83N)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GUncertain significance
CTC1
(R818Q)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GUncertain significance
CTC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTC1
Single nucleotide variant
(intron variant)
Dyskeratosis congenita
+1 more
GConflicting classifications of pathogenicity
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+1 more
GConflicting classifications of pathogenicity
CTC1, PFAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTC1
(R78H)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+3 more
GBenign/Likely benign
CTC1
(V896L)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GUncertain significance
CTC1
(G131R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GConflicting classifications of pathogenicity
CTC1
(P168S)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+2 more
GUncertain significance
CTC1
(G278V)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CTC1
(H84fs)
Duplication
(frameshift variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GPathogenic/Likely pathogenic
CTC1
(A760T)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GConflicting classifications of pathogenicity
CTC1
(P999fs)
Deletion
(frameshift variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+2 more
GPathogenic/Likely pathogenic
CTC1
(R975G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTC1
(R1202*)
Single nucleotide variant
(nonsense +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CTC1
(A900T)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GUncertain significance
CTC1, PFAS
(A3V)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GUncertain significance
CTC1
(L529I)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GUncertain significance
CTC1
(A710T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CTC1
(P754A)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GUncertain significance
CTC1
(I246M)
Single nucleotide variant
(missense variant)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GUncertain significance
CTC1
Duplication
(frameshift variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
GLikely pathogenic
CTC1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita
+1 more
GConflicting classifications of pathogenicity
CTC1
(L935F)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita
+1 more
GPathogenic/Likely pathogenic
CTC1
(V288M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTC1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CTC1
(V186L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
CTC1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CTC1
(G923W)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GUncertain significance
CTC1
(E785K)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GBenign
CTC1
(R653Q)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GConflicting classifications of pathogenicity
CTC1
(R522W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+3 more
GConflicting classifications of pathogenicity
CTC1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CTC1
(R1178*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GUncertain significance
CTC1
(P200S)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GUncertain significance
CTC1
(R1202Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GUncertain significance
CTC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CTC1
Single nucleotide variant
(intron variant)
CTC1-related condition
+3 more
GConflicting classifications of pathogenicity
CTC1, PFAS
(R5W)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+3 more
GConflicting classifications of pathogenicity
CTC1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CTC1
(R542Q)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+2 more
GUncertain significance
CTC1
(P574S)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CTC1
(D718E)
Single nucleotide variant
(missense variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+3 more
GBenign/Likely benign
CTC1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+2 more
GBenign/Likely benign
CTC1
(R487G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CTC1, PFAS
(R5G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1, PFAS
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
CTC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
CTC1
Single nucleotide variant
(synonymous variant +1 more)
Cerebroretinal microangiopathy with calcifications and cysts 1
+1 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination