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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX6-2
(G102V)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GUncertain significance
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
(Y172*)
Single nucleotide variant
(nonsense)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
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
(L181V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
NKX6-2
(V209A)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
+1 more
GBenign
NKX6-2
(H20R)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GUncertain significance
NKX6-2
(H150Q)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GUncertain significance
NKX6-2
(F167L)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GUncertain significance
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
(L79fs)
Deletion
(frameshift variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
+1 more
GLikely pathogenic
NKX6-2
(R66fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NKX6-2
(L163V)
Single nucleotide variant
(missense variant)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
NKX6-2
(K41*)
Single nucleotide variant
(nonsense)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
GPathogenic
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