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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX6-2
(W203*)
Single nucleotide variant
(nonsense)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GLikely pathogenic
NKX6-2
(K202fs)
Indel
(frameshift variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
NKX6-2
(R200Q)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
NKX6-2
(Q197*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
NKX6-2
(E189*)
Single nucleotide variant
(nonsense)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
NKX6-2
(L163V)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
NKX6-2
(R66fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NKX6-2
(K41*)
Single nucleotide variant
(nonsense)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
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