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Links from MedGen

Items: 1 to 100 of 237

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(R483fs +1 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Deletion
(splice acceptor variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Microsatellite
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(V157fs +1 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 75
GLikely pathogenic
FXYD5, FXYD7
+83 more
Duplication
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(A207T +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(R65C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(L416F +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(R587W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 75
+1 more
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(V144L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 75
+1 more
GLikely benign
MAG
(G169S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(F523S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(E146D +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(E85A +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(D386N +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(T182A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(V433M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(N106K +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(R576H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 75
+1 more
GUncertain significance
MAG
(Q510E +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(R18H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(R65H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(V211I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MAG
(G98S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(R77L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(N37S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(T612M +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(A307V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MAG
(I14V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(G229S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(T317M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(T607N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(H203R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(A251V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(R538C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(R26Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Duplication
(inframe_insertion)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(L201V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(G237E +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
(V109I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 75
GLikely benign
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
MAG
(V284M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 75
GUncertain significance
MAG
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 75
GLikely benign
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