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Links from MedGen

Items: 1 to 100 of 372

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Tremor, hereditary essential, 4
+2 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
(G186S +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(M507fs +2 more)
Duplication
(frameshift variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GPathogenic
FUS
(M254T +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(Y484C +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(Q157H +1 more)
Single nucleotide variant
(missense variant +1 more)
Tremor, hereditary essential, 4
+1 more
GUncertain significance
FUS
(G170C +1 more)
Single nucleotide variant
(missense variant +1 more)
Tremor, hereditary essential, 4
+1 more
GUncertain significance
FUS
Deletion
(intron variant)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(R383H +2 more)
Single nucleotide variant
(missense variant +1 more)
Tremor, hereditary essential, 4
+1 more
GUncertain significance
FUS
Deletion
(intron variant)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
(P425S +2 more)
Single nucleotide variant
(missense variant +1 more)
Tremor, hereditary essential, 4
+1 more
GUncertain significance
FUS
(P359A +2 more)
Single nucleotide variant
(missense variant +1 more)
Tremor, hereditary essential, 4
+1 more
GUncertain significance
FUS
(H517N +2 more)
Single nucleotide variant
(missense variant +1 more)
Tremor, hereditary essential, 4
+1 more
GUncertain significance
FUS
Microsatellite
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(Y207C +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
(R240H +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(Y475C +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Duplication
(inframe_insertion +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(R510G +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GPathogenic
FUS
(K510E +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely pathogenic
FUS
(R230C +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+2 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(G113S +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Deletion
(inframe_deletion +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(N291S +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+2 more
GLikely benign
FUS
(P521S +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
GUncertain significance
FUS
(D486fs +2 more)
Duplication
(frameshift variant +1 more)
Amyotrophic lateral sclerosis type 6
GLikely pathogenic
FUS
(Y480fs +2 more)
Deletion
(frameshift variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GPathogenic
FUS
Duplication
(inframe_insertion +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Microsatellite
(inframe_insertion +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(N192S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(G185D +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(S130N +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Microsatellite
(intron variant)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
(R386P +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(G456R +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(G226V +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Duplication
(inframe_insertion +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(M180V +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(T71A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(intron variant)
FUS-related disorder
+2 more
GLikely benign
FUS
(Q178H +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
FUS-related disorder
+2 more
GBenign/Likely benign
FUS
(H275Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Duplication
(inframe_insertion +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(P521T +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GPathogenic
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
(R518S +2 more)
Single nucleotide variant
(missense variant +1 more)
Tremor, hereditary essential, 4
+1 more
GUncertain significance
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(S408G +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(intron variant)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Tremor, hereditary essential, 4
+1 more
GLikely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(Q84* +1 more)
Single nucleotide variant
(nonsense +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GPathogenic
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+1 more
GLikely benign
FUS
(R212H +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GLikely benign
FUS
(G514S +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+2 more
GUncertain significance
FUS
(R484W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
FUS
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 6
+2 more
GUncertain significance
FUS
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 6
+2 more
GConflicting classifications of pathogenicity
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