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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCTN1
(P176L +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
LOC124629354, PRPH
+1 more
(Q307*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(A5V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+2 more
GPathogenic
SOD1, SOD1-DT
(V15L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
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