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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSEN2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TSEN2
(A111T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
TSEN2
(R126H)
Single nucleotide variant
(missense variant +1 more)
Pontoneocerebellar hypoplasia
+2 more
GBenign
TSEN2
(R187P)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
TSEN2
Single nucleotide variant
(synonymous variant +2 more)
Pontoneocerebellar hypoplasia
+2 more
GBenign/Likely benign
TSEN2
(V353I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TSEN2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TSEN2
Single nucleotide variant
(synonymous variant +1 more)
Pontoneocerebellar hypoplasia
+2 more
GConflicting classifications of pathogenicity
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