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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FUS
(G206S +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
GPathogenic
FUS
(R216C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
FUS
(Q290* +2 more)
Single nucleotide variant
(nonsense +1 more)
Tremor, hereditary essential, 4
GPathogenic
FUS
(P431L +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
+4 more
GConflicting classifications of pathogenicity
FUS
(R495* +2 more)
Single nucleotide variant
(nonsense +1 more)
Amyotrophic lateral sclerosis type 6
+2 more
GPathogenic
FUS
(G507D +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
FUS
(H517Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis 6, autosomal recessive
GPathogenic
FUS
(R518K +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
GPathogenic
FUS
(R521C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
FUS
(R521G +2 more)
Single nucleotide variant
(missense variant +1 more)
Tremor, hereditary essential, 4
+2 more
GPathogenic
FUS
(R521H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
FUS
(R524W +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+1 more
GUncertain significance
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