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Links from Gene

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX6-2
Single nucleotide variant
(synonymous variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GLikely benign
NKX6-2
(A97fs)
Microsatellite
(frameshift variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GLikely pathogenic
NKX6-2
(F30C)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GUncertain significance
NKX6-2
(G59C)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GUncertain significance
NKX6-2
(R200W)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
NKX6-2
(N198D)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GLikely pathogenic
NKX6-2
(Q191*)
Single nucleotide variant
(nonsense)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
NKX6-2
(R101S)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GLikely pathogenic
NKX6-2
(F40fs)
Deletion
(frameshift variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
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