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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN5
(E119* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GLikely pathogenic
CLCN5
(L214K +2 more)
Indel
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
Deletion
(nonsense)
Dent disease type 1
GPathogenic
CLCN5
(A247E +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(I327M +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(Q351* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GLikely pathogenic
CLCN5
(P457fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GLikely pathogenic
CLCN5
(Q475* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GLikely pathogenic
LOC126863258, CLCN5
(E527* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GLikely pathogenic
CLCN5, LOC126863258
(R589W +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5, LOC126863258
(G633D +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GLikely pathogenic
CLCN5, LOC126863258
(L640R +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
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