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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC21B
(R1311H)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+4 more
GUncertain significance
TTC21B
Single nucleotide variant
(synonymous variant)
Nephronophthisis 12
+6 more
GConflicting classifications of pathogenicity
TTC21B
Single nucleotide variant
(intron variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
TTC21B
(L1002V)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+8 more
GConflicting classifications of pathogenicity
TTC21B
(R863W)
Single nucleotide variant
(missense variant)
TTC21B-related condition
+5 more
GConflicting classifications of pathogenicity
TTC21B
Duplication
(intron variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
TTC21B
(M844V)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+4 more
GConflicting classifications of pathogenicity
TTC21B
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
TTC21B
(R723Q)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+4 more
GConflicting classifications of pathogenicity
TTC21B
(H566R)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 4
+4 more
GConflicting classifications of pathogenicity
TTC21B
(L473F)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+6 more
GBenign
TTC21B
(M453K)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+2 more
GUncertain significance
TTC21B
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GUncertain significance
TTC21B
(M280V)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+6 more
GBenign/Likely benign
TTC21B
Single nucleotide variant
(intron variant)
Jeune thoracic dystrophy
+2 more
GUncertain significance
TTC21B
(D242N)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+5 more
GBenign/Likely benign
TTC21B, TTC21B-AS1
(T231S)
Single nucleotide variant
(missense variant)
TTC21B-related condition
+7 more
GConflicting classifications of pathogenicity
TTC21B, TTC21B-AS1
(Q222L)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+6 more
GBenign/Likely benign
TTC21B, TTC21B-AS1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
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