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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
GPathogenic
AHNAK2
(G300S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
COQ4
(R240C +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Cerebellar ataxia
+5 more
GPathogenic
COQ4
(G95D +2 more)
Single nucleotide variant
(missense variant +1 more)
Dysmetria
+3 more
GPathogenic
HARS1
Deletion
Spastic ataxia
+9 more
GPathogenic
HARS1
(D132Y +6 more)
Single nucleotide variant
(missense variant)
Spastic ataxia
+9 more
GPathogenic
COQ8A
(S582fs)
Duplication
(frameshift variant)
Cerebellar ataxia
+7 more
GLikely pathogenic
SETX
(D1742fs)
Duplication
(frameshift variant)
not provided
GPathogenic
DARS2
Single nucleotide variant
(splice donor variant)
Impaired vibration sensation in the lower limbs
+15 more
GPathogenic
DARS2
Indel
(intron variant)
Impaired vibration sensation in the lower limbs
+14 more
GPathogenic
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