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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PFN1
(E117D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 18
GLikely benign
PFN1
(G94C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 18
+2 more
GUncertain significance
PFN1
(D107fs)
Duplication
(frameshift variant)
Neurodegeneration
+1 more
GLikely pathogenic
PFN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
PFN1
(E117G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PFN1
(G118V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 18
GPathogenic
PFN1
(M114T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic
PFN1
(C71G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 18
GPathogenic
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