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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN5
(W429R +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
+1 more
GUncertain significance
CLCN5
(E404K +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
GUncertain significance
CLCN5
Single nucleotide variant
(intron variant)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
+4 more
GBenign/Likely benign
CLCN5
(I443V +2 more)
Single nucleotide variant
(missense variant)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
+4 more
GUncertain significance
CLCN5, LOC126863258
(I660V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
CLCN5
(R239H +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
+4 more
GConflicting classifications of pathogenicity
CLCN5
(Q475H +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
+5 more
GConflicting classifications of pathogenicity
CLCN5
Single nucleotide variant
(splice donor variant)
Hypophosphatemic rickets, X-linked recessive
+3 more
GLikely pathogenic
CLCN5
(I196V +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
+4 more
GLikely benign
CLCN5
(R51Q)
Single nucleotide variant
(missense variant)
Dent disease type 1
+3 more
GUncertain significance
CLCN5
(V363M +2 more)
Single nucleotide variant
(missense variant)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
+4 more
GConflicting classifications of pathogenicity
CLCN5
(S452fs +2 more)
Deletion
(frameshift variant)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
+3 more
GLikely pathogenic
CLCN5
(C221R +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
+4 more
GLikely pathogenic
CLCN5, LOC126863258
(C711S +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, X-linked recessive
+3 more
GUncertain significance
CLCN5, LOC126863258
(T683M +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, X-linked recessive
+4 more
GUncertain significance
CLCN5, LOC126863258
(T683A +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
GUncertain significance
CLCN5
(R408H +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, X-linked recessive
+4 more
GBenign/Likely benign
CLCN5
Single nucleotide variant
(intron variant)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
+4 more
GBenign
CLCN5
(H100N +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CLCN5, LOC126863258
(E734A +2 more)
Single nucleotide variant
(missense variant)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
+5 more
GUncertain significance
CLCN5
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
CLCN5
(R28* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
+4 more
GPathogenic
CLCN5
(W559* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
+3 more
GLikely pathogenic
CLCN5, LOC126863258
(V699I +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
+4 more
GUncertain significance
CLCN5
Single nucleotide variant
(synonymous variant)
Dent disease type 1
+4 more
GBenign/Likely benign
CLCN5, LOC126863258
(R637* +2 more)
Single nucleotide variant
(nonsense)
Dent disease
+5 more
GPathogenic
CLCN5
(G57V +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
GPathogenic
CLCN5
(S244L +2 more)
Single nucleotide variant
(missense variant)
CLCN5-related condition
+5 more
GPathogenic
CLCN5
(G506E +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
GPathogenic
CLCN5, LOC126863258
(R704* +2 more)
Single nucleotide variant
(nonsense)
X-linked recessive nephrolithiasis with renal failure
GUncertain significance
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