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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126859836, SYNE1
(M7218V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126859836, SYNE1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC126859836, SYNE1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC126859836, SYNE1
(C7130S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126859836, SYNE1
Single nucleotide variant
(intron variant)
Autosomal recessive ataxia, Beauce type
+3 more
GBenign
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