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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FARS2
(V288L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 77
GUncertain significance
FARS2, LOC126859565
(L172P)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 77
+1 more
GUncertain significance
FARS2, LOC129995672
+1 more
Duplication
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
FARS2
(E103V +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 77
GUncertain significance
FARS2
(R98C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FARS2
(K353Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 77
+2 more
GConflicting classifications of pathogenicity
FARS2, LOC126859565
(H159P)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 77
+1 more
GConflicting classifications of pathogenicity
FARS2
(D265fs +1 more)
Deletion
(frameshift variant +1 more)
Combined oxidative phosphorylation defect type 14
+4 more
GPathogenic/Likely pathogenic
FARS2, LOC126859565
(G141E)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 77
GUncertain significance
FARS2
(E337K +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 14
+1 more
GUncertain significance
FARS2, LOC126859565
(V174del)
Microsatellite
(inframe_deletion +1 more)
Hereditary spastic paraplegia 77
+1 more
GUncertain significance
LOC126859565, FARS2
(A154V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 77
+1 more
GConflicting classifications of pathogenicity
FARS2, LOC101927950
+3 more
Deletion
Hereditary spastic paraplegia 77
GLikely pathogenic
FARS2, LOC126859565
(A166V)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 14
+2 more
GConflicting classifications of pathogenicity
FARS2
(R419H +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 77
+3 more
GPathogenic/Likely pathogenic
FARS2, LOC126859565
(D142Y)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 77
GPathogenic
FARS2, LOC126859565
(D184N)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
FARS2
(R419C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 77
+2 more
GPathogenic/Likely pathogenic
FARS2
(P361L +2 more)
Single nucleotide variant
(missense variant)
See cases
+4 more
GPathogenic/Likely pathogenic
FARS2
(N280S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 77
+2 more
GBenign
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