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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC12A2
(I409T)
Single nucleotide variant
(missense variant +1 more)
Kilquist syndrome
+1 more
GUncertain significance
SLC12A2
(A1173V +1 more)
Single nucleotide variant
(missense variant +1 more)
Kilquist syndrome
+2 more
GUncertain significance
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
Kilquist syndrome
+3 more
GLikely benign
SLC12A2
Single nucleotide variant
(intron variant)
Kilquist syndrome
+3 more
GBenign/Likely benign
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
Kilquist syndrome
+3 more
GBenign/Likely benign
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
Kilquist syndrome
+3 more
GBenign/Likely benign
SLC12A2
Single nucleotide variant
(intron variant)
Kilquist syndrome
+3 more
GLikely benign
SLC12A2
Deletion
(intron variant)
not provided
+3 more
GBenign/Likely benign
SLC12A2
Single nucleotide variant
(intron variant)
Kilquist syndrome
+3 more
GBenign/Likely benign
SLC12A2
Single nucleotide variant
(intron variant)
Hearing loss, autosomal dominant 78
+3 more
GLikely benign
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
Kilquist syndrome
+3 more
GBenign/Likely benign
SLC12A2
Single nucleotide variant
(intron variant)
Kilquist syndrome
+3 more
GBenign
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
Kilquist syndrome
+3 more
GLikely benign
SLC12A2
(G175A)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 78
+3 more
GBenign
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
Hearing loss, autosomal dominant 78
+3 more
GBenign/Likely benign
SLC12A2
Single nucleotide variant
(intron variant)
Kilquist syndrome
+3 more
GLikely benign
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
LOC129994526, SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
SLC12A2
Single nucleotide variant
(intron variant)
Hearing loss, autosomal dominant 78
+3 more
GLikely benign
LOC129994526, SLC12A2
(S79R)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 78
+3 more
GUncertain significance
SLC12A2
(R294H)
Single nucleotide variant
(missense variant +1 more)
Kilquist syndrome
+3 more
GUncertain significance
SLC12A2
(N376S)
Single nucleotide variant
(missense variant +1 more)
Kilquist syndrome
+3 more
GUncertain significance
SLC12A2
(L737Q)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 78
+3 more
GUncertain significance
SLC12A2
(V950M)
Single nucleotide variant
(missense variant +1 more)
Kilquist syndrome
+3 more
GUncertain significance
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
Kilquist syndrome
+3 more
GUncertain significance
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
Kilquist syndrome
+3 more
GLikely benign
SLC12A2
(L765V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SLC12A2
(E263A)
Single nucleotide variant
(missense variant +1 more)
Kilquist syndrome
+3 more
GUncertain significance
LOC129994526, SLC12A2
Microsatellite
(inframe_insertion +1 more)
Kilquist syndrome
+3 more
GUncertain significance
SLC12A2
(L1192V +1 more)
Single nucleotide variant
(missense variant +1 more)
Kilquist syndrome
+3 more
GUncertain significance
LOC129994526, SLC12A2
(G14V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
SLC12A2
Single nucleotide variant
(synonymous variant +1 more)
Kilquist syndrome
+3 more
GLikely benign
SLC12A2
Single nucleotide variant
(intron variant)
Kilquist syndrome
+3 more
GConflicting classifications of pathogenicity
SLC12A2
Deletion
Kilquist syndrome
GPathogenic
SLC12A2
Single nucleotide variant
(splice acceptor variant)
Kilquist syndrome
GPathogenic
SLC12A2
(F477fs)
Deletion
(frameshift variant +1 more)
Kilquist syndrome
GPathogenic
SLC12A2
Deletion
Kilquist syndrome
GPathogenic
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