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Links from MedGen

Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCNKA, LOC106501712
(E586* +2 more)
Single nucleotide variant
(nonsense)
Bartter disease type 4B
GLikely pathogenic
CLCNKA, LOC106501712
(V657M +2 more)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
+1 more
GUncertain significance
CLCNKA, LOC106501712
(A434fs +1 more)
Deletion
(frameshift variant)
Bartter disease type 4B
GUncertain significance
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
Bartter disease type 3
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CLCNKB, LOC106501713
(Q216R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
Bartter disease type 3
+2 more
GLikely benign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
Bartter disease type 3
+2 more
GLikely benign
CLCNKB, LOC106501713
(A77V)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
+2 more
GUncertain significance
CLCNKB, LOC106501713
(R375C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLCNKB, LOC106501713
(I525T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CLCNKB, LOC106501713
(R369C +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+2 more
GUncertain significance
CLCNKB
(R33Q)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
+2 more
GUncertain significance
CLCNKB, LOC106501713
(M249I +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+2 more
GUncertain significance
CLCNKB, LOC106501713
(Y99H)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+2 more
GUncertain significance
CLCNKB, LOC106501713
(A319D +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CLCNKB, LOC106501713
(A177S)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+2 more
GUncertain significance
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
Bartter disease type 4B
+2 more
GConflicting classifications of pathogenicity
CLCNKB, LOC106501713
(V170M)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
+2 more
GPathogenic
CLCNKB, LOC106501713
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKA, LOC106501712
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLCNKA, LOC106501712
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLCNKA, LOC106501712
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLCNKA, LOC106501712
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLCNKA, LOC106501712
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Deletion
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CLCNKA, LOC106501712
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLCNKB
Copy number loss
Bartter disease type 4B
+1 more
GPathogenic
CLCNKB, LOC106501713
(R92W)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
+1 more
GPathogenic
CLCNKA, LOC106501712
(A404T +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
+2 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
Bartter disease type 4B
+2 more
GBenign
CLCNKB, LOC106501713
(R76*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
LOC106501713, CLCNKB
Single nucleotide variant
(synonymous variant)
Bartter disease type 4B
+2 more
GLikely benign
CLCNKB, LOC106501713
(Y297fs +1 more)
Deletion
(frameshift variant)
Bartter disease type 3
+2 more
GPathogenic
CLCNKB, LOC106501713
(G268R +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+1 more
GPathogenic
CLCNKB, LOC106501713
(R135* +1 more)
Single nucleotide variant
(nonsense)
Bartter disease type 3
+3 more
GPathogenic/Likely pathogenic
CLCNKB, LOC106501713
(Y67* +1 more)
Single nucleotide variant
(nonsense)
Bartter disease type 3
+2 more
GPathogenic
CLCNKB, LOC106501713
(V524I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
(A214G)
Indel
(missense variant)
not provided
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
(S265C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
Bartter disease type 3
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
(V104I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CLCNKA, LOC106501712
(A244V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CLCNKB
Single nucleotide variant
(synonymous variant)
Bartter disease type 3
+2 more
GLikely benign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
Bartter disease type 4B
+2 more
GLikely benign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
Bartter disease type 4B
+2 more
GLikely benign
CLCNKA, LOC106501712
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLCNKA, LOC106501712
(R495C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLCNKA, LOC106501712
(T312I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
Bartter disease type 4B
+2 more
GLikely benign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
Bartter disease type 4B
+2 more
GBenign/Likely benign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CLCNKA
(G6E)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
GUncertain significance
CLCNKB, LOC106501713
(A206S)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
+1 more
GUncertain significance
CLCNKA
(Q19*)
Single nucleotide variant
(nonsense)
Bartter disease type 4B
+2 more
GConflicting classifications of pathogenicity
CLCNKB
(L7fs)
Duplication
(frameshift variant)
Bartter disease type 3
+2 more
GPathogenic
CLCNKB, LOC106501713
(N459H +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+3 more
GUncertain significance
CLCNKA, LOC106501712
(R83G)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
CLCNKA, LOC106501712
Single nucleotide variant
(intron variant)
Bartter disease type 4B
+1 more
GBenign
CLCNKA, LOC106501712
(R538P +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
GUncertain significance
CLCNKB, LOC106501713
(A214G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
CLCNKB, LOC106501713
(A287V +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
CLCNKB
(R27L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CLCNKB, LOC106501713
(K578E +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
CLCNKB, LOC106501713
(M562T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
CLCNKB, LOC106501713
(A504V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LOC106501713, CLCNKB
(E565fs +1 more)
Deletion
(frameshift variant)
Bartter disease type 3
+2 more
GPathogenic
CLCNKB, LOC106501713
Deletion
(nonsense)
Bartter disease type 3
+2 more
GPathogenic/Likely pathogenic
CLCNKA, LOC106501712
(D383Y +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 4B
GUncertain significance
CLCNKB
(R8H)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+1 more
GUncertain significance
CLCNKB, LOC106501713
(V668L +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+1 more
GUncertain significance
CLCNKB, LOC106501713
(F648L +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+1 more
GUncertain significance
CLCNKB, LOC106501713
(W610* +1 more)
Single nucleotide variant
(nonsense)
Bartter disease type 3
+2 more
GPathogenic
CLCNKB, LOC106501713
Single nucleotide variant
(splice acceptor variant)
Bartter disease type 3
+1 more
GPathogenic
CLCNKB, LOC106501713
(A204T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCNKA, LOC106501712
(Q260* +1 more)
Single nucleotide variant
(nonsense)
Bartter disease type 4B
GPathogenic
CLCNKA, LOC106501712
(W80C)
Single nucleotide variant
(missense variant +1 more)
Bartter disease type 4B
GPathogenic
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