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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DRC1
(P4S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(A9V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DRC1
(P25R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(H28R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(R46L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DRC1
(A49T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(E64G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DRC1
(S72T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DRC1
(S79R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DRC1
(I103N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(E155K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(A165V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(R206Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(K212Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(R219S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(R219H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(R233C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(R233H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DRC1
(A250V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(R262L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(D294N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(V332L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(T370I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(R375C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(A391V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(P435S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(P435L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
DRC1
(R464C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(A473V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
+3 more
GUncertain significance
DRC1
(I495N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(I507L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DRC1
(P517S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(V547M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(R554Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DRC1
(S584T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DRC1
(T592M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(E611K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DRC1
(K638T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DRC1
(P645L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(R694T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(E705D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(Q717H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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