U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 178

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN5
(Q475* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GLikely pathogenic
CLCN5
(I327M +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(A247E +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5, LOC126863258
(R589W +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5, LOC126863258
(I644V +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
+1 more
GUncertain significance
CLCN5
(Q351* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GLikely pathogenic
CLCN5, LOC126863258
(R554fs +2 more)
Duplication
(frameshift variant)
Dent disease type 1
GLikely pathogenic
CLCN5
(E119* +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
(G179V +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GLikely pathogenic
CLCN5
Single nucleotide variant
(synonymous variant)
Dent disease type 1
GLikely pathogenic
CLCN5
(L437fs +2 more)
Duplication
(frameshift variant)
Dent disease type 1
GLikely pathogenic
CLCN5
(W189* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GLikely pathogenic
CLCN5, LOC126863258
(G512D +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(W429R +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
+1 more
GUncertain significance
CLCN5
(A154fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5
(M473T +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(M1V)
Single nucleotide variant
(missense variant +1 more)
Dent disease type 1
GUncertain significance
CLCN5
(W314R +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(E414fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5
(V422M +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(C392fs +2 more)
Microsatellite
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5
Single nucleotide variant
(intron variant)
Hypophosphatemic rickets, X-linked recessive
+4 more
GBenign/Likely benign
CLCN5
(I443V +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, X-linked recessive
+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)
Dent disease type 1
+4 more
GConflicting classifications of pathogenicity
CLCN5, LOC126863258
(F576fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GLikely pathogenic
CLCN5
(Q475H +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, X-linked recessive
+7 more
GConflicting classifications of pathogenicity
CLCN5
(G127R +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GLikely pathogenic
CLCN5
Single nucleotide variant
(splice donor variant)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
+3 more
GLikely pathogenic
CLCN5
Single nucleotide variant
(splice donor variant)
Dent disease type 1
GPathogenic
CLCN5
(G256R +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GPathogenic
CLCN5
(I196V +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GLikely benign
CLCN5
(R51Q)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
+3 more
GUncertain significance
CLCN5
(S244* +2 more)
Single nucleotide variant
(nonsense)
Hypophosphatemic rickets, X-linked recessive
+1 more
GConflicting classifications of pathogenicity
CLCN5
(V363M +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
+4 more
GConflicting classifications of pathogenicity
CLCN5
(W128C +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GLikely pathogenic
CLCN5
(A507fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GLikely pathogenic
CLCN5
(S452fs +2 more)
Deletion
(frameshift variant)
X-linked recessive nephrolithiasis with renal failure
+3 more
GLikely pathogenic
CLCN5
(C221R +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GLikely pathogenic
CLCN5
(V251I +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(K111fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GLikely pathogenic
CLCN5, LOC126863258
(C711S +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
+3 more
GUncertain significance
CLCN5
(N374fs +2 more)
Duplication
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5
(E268* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GPathogenic
CLCN5
(K411* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GPathogenic
CLCN5, LOC126863258
(Y534N +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GPathogenic
CLCN5, LOC126863258
(T683M +2 more)
Single nucleotide variant
(missense variant)
X-linked recessive nephrolithiasis with renal failure
+4 more
GUncertain significance
CLCN5
(F322fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5, LOC126863258
(T676fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5
(C110fs +2 more)
Microsatellite
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5, LOC126863258
(L591fs +2 more)
Microsatellite
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5, LOC126863258
(S520fs +2 more)
Duplication
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5, LOC126863258
(W567C +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GPathogenic
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5, LOC126863258
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLCN5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GBenign
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
(R408H +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
+4 more
GBenign/Likely benign
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
(K115R +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
+3 more
GConflicting classifications of pathogenicity
CLCN5
Single nucleotide variant
(intron variant)
Dent disease type 1
+4 more
GBenign
CLCN5
Single nucleotide variant
(5 prime UTR variant +1 more)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(3 prime UTR variant)
Dent disease type 1
GUncertain significance
CLCN5, LOC126863258
(P715S +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GUncertain significance
CLCN5
(H100N +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CLCN5
Single nucleotide variant
(intron variant)
Dent disease type 1
GUncertain significance
CLCN5
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GUncertain significance
CLCN5, LOC126863258
(E734A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
CLCN5
(D396H +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 1
GPathogenic
CLCN5
(W115* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GPathogenic
CLCN5
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
CLCN5
(R28* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
+4 more
GPathogenic/Likely pathogenic
CLCN5
(W192* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GPathogenic
Format
Items per page
Sort by
Choose Destination