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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC12A6
(R1134* +4 more)
Single nucleotide variant
(nonsense)
Agenesis of the corpus callosum with peripheral neuropathy
GPathogenic/Likely pathogenic
SLC12A6
(R1011* +4 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SLC12A6
(Q984fs +4 more)
Deletion
(frameshift variant)
Agenesis of the corpus callosum with peripheral neuropathy
GLikely pathogenic
SLC12A6
(T991A +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SLC12A6
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic
SLC12A6
(Y620S +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, IIa 2II
GPathogenic
SLC12A6
(Y664C +4 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SLC12A6
(Y669fs +4 more)
Duplication
(frameshift variant)
Agenesis of the corpus callosum with peripheral neuropathy
GPathogenic
SLC12A6
(R675* +4 more)
Single nucleotide variant
(nonsense)
Agenesis of the corpus callosum with peripheral neuropathy
+1 more
GPathogenic
SLC12A6
(F519del +4 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
SLC12A6
(F470fs +4 more)
Indel
(frameshift variant)
Agenesis of the corpus callosum with peripheral neuropathy
GPathogenic
SLC12A6
(F442fs +4 more)
Deletion
(frameshift variant)
Agenesis of the corpus callosum with peripheral neuropathy
GPathogenic
SLC12A6
(I250fs +4 more)
Deletion
(frameshift variant)
Agenesis of the corpus callosum with peripheral neuropathy
GLikely pathogenic
SLC12A6
(E230K +3 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, IIa 2II
GPathogenic
SLC12A6, LOC129390683
(R156H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
LOC129390683, SLC12A6
(R207C +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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