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Links from MedGen

Items: 1 to 100 of 249

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC21B
(L306del)
Microsatellite
(inframe_deletion)
Nephronophthisis 12
GUncertain significance
TTC21B
(A857T +1 more)
Single nucleotide variant
(missense variant +1 more)
Asphyxiating thoracic dystrophy 4
GLikely pathogenic
TTC21B
(G331E)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
GLikely pathogenic
TTC21B
Single nucleotide variant
(intron variant)
Jeune thoracic dystrophy
+3 more
GLikely benign
TTC21B
Single nucleotide variant
(synonymous variant)
Jeune thoracic dystrophy
+3 more
GLikely benign
TTC21B
Single nucleotide variant
(intron variant)
Jeune thoracic dystrophy
+3 more
GLikely benign
TTC21B
Deletion
(intron variant)
Asphyxiating thoracic dystrophy 4
+3 more
GLikely benign
TTC21B
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+3 more
GLikely benign
TTC21B
Single nucleotide variant
(synonymous variant)
Asphyxiating thoracic dystrophy 4
+3 more
GLikely benign
TTC21B, TTC21B-AS1
Deletion
(intron variant)
Nephronophthisis 12
+3 more
GBenign/Likely benign
TTC21B
Single nucleotide variant
(synonymous variant)
Nephronophthisis 12
+3 more
GLikely benign
TTC21B
Single nucleotide variant
(intron variant)
Jeune thoracic dystrophy
+3 more
GLikely benign
TTC21B
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+3 more
GLikely benign
TTC21B
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
TTC21B
(R1225C)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
(L992S)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+4 more
GUncertain significance
TTC21B
(R1050Q)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B, TTC21B-AS1
(R103C)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(Y900N)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B
(S3L)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B
(A600S)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(R1182H)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+4 more
GUncertain significance
TTC21B
(M962L)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
Single nucleotide variant
(splice donor variant)
Asphyxiating thoracic dystrophy 4
+3 more
GLikely pathogenic
TTC21B
(R1263W)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TTC21B, TTC21B-AS1
(V146G)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+4 more
GUncertain significance
TTC21B
(Y562C)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
(M828fs)
Duplication
(frameshift variant)
Jeune thoracic dystrophy
+3 more
GPathogenic/Likely pathogenic
TTC21B, TTC21B-AS1
(Q192R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+4 more
GUncertain significance
TTC21B
(A1159V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
TTC21B
(F288L)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(V1139I)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B
(I1206T)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B
(S324A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
TTC21B-AS1, TTC21B
(I121V)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B
(I1064L)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
+3 more
GUncertain significance
TTC21B
(T710A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
TTC21B
(S1261I)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(V626I)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(C1223F)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(R1044Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TTC21B
(A1211T)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GConflicting classifications of pathogenicity
TTC21B
(C477W)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
(I1191T)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
TTC21B
(F687C)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
(A1184V)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
(M453V)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
TTC21B
(P722R)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
(D424E)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GConflicting classifications of pathogenicity
TTC21B
(I305T)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(L726I)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
+3 more
GUncertain significance
TTC21B
(L537V)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(C459*)
Single nucleotide variant
(nonsense)
Jeune thoracic dystrophy
+3 more
GPathogenic/Likely pathogenic
TTC21B
(E871K)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(F41L)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(R1175Q)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(M956V)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(G786R)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GConflicting classifications of pathogenicity
TTC21B
(L989S)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(Y525H)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+4 more
GUncertain significance
TTC21B
(W346*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 4
+1 more
GPathogenic
TTC21B
(E329V)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B
(R655W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TTC21B
(D1305E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
TTC21B
(A850V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TTC21B
(R981C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TTC21B
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 4
+2 more
GUncertain significance
TTC21B
(R58Q)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
TTC21B
(R991H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTC21B
(Q1114*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 4
+1 more
GLikely pathogenic
TTC21B, TTC21B-AS1
Duplication
(splice acceptor variant)
Asphyxiating thoracic dystrophy 4
+1 more
GPathogenic
TTC21B
Single nucleotide variant
(splice donor variant)
Asphyxiating thoracic dystrophy 4
+3 more
GLikely pathogenic
TTC21B
(G1030fs)
Deletion
(frameshift variant)
Asphyxiating thoracic dystrophy 4
+1 more
GPathogenic
TTC21B
Single nucleotide variant
(splice acceptor variant)
Asphyxiating thoracic dystrophy 4
+1 more
GLikely pathogenic
TTC21B
Single nucleotide variant
(synonymous variant)
Jeune thoracic dystrophy
+3 more
GLikely benign
TTC21B, TTC21B-AS1
(K166fs)
Deletion
(frameshift variant)
Nephronophthisis 12
GPathogenic
TTC21B
(C518R)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
GUncertain significance
TTC21B
(R1222W)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
GLikely pathogenic
TTC21B
(Q516*)
Single nucleotide variant
(nonsense)
Asphyxiating thoracic dystrophy 4
+3 more
GPathogenic/Likely pathogenic
TTC21B
(R628H)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
+4 more
GConflicting classifications of pathogenicity
TTC21B
(R1263Q)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
(A510P)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+4 more
GUncertain significance
TTC21B
Single nucleotide variant
(synonymous variant)
Jeune thoracic dystrophy
+2 more
GConflicting classifications of pathogenicity
TTC21B
(A350S)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B, TTC21B-AS1
(S210N)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
GUncertain significance
TTC21B, TTC21B-AS1
(R123H)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
TTC21B
(L911V)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
GUncertain significance
TTC21B
(E780V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TTC21B
(Y793C)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+4 more
GConflicting classifications of pathogenicity
TTC21B
(Q869R)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+4 more
GUncertain significance
TTC21B
(C937F)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GUncertain significance
TTC21B
(E59A)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
+3 more
GUncertain significance
TTC21B
(W804C)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
+3 more
GUncertain significance
TTC21B
(R981H)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+3 more
GConflicting classifications of pathogenicity
TTC21B-AS1, TTC21B
(R191H)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B
(Y289C)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+4 more
GUncertain significance
TTC21B
(I305V)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+4 more
GConflicting classifications of pathogenicity
TTC21B
(I78M)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+3 more
GUncertain significance
TTC21B
Deletion
(splice donor variant)
Nephronophthisis 12
GPathogenic
TTC21B
(N86H)
Single nucleotide variant
(missense variant)
Nephronophthisis 12
+3 more
GConflicting classifications of pathogenicity
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