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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTPA
(E249fs)
Deletion
(frameshift variant)
Familial isolated deficiency of vitamin E
+1 more
GPathogenic
TTPA
(G246R)
Single nucleotide variant
(missense variant)
Familial isolated deficiency of vitamin E
Gnot provided
TTPA
(R221W)
Single nucleotide variant
(missense variant)
Familial isolated deficiency of vitamin E
+1 more
GConflicting classifications of pathogenicity
TTPA
(R192H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TTPA
Single nucleotide variant
(intron variant +1 more)
Familial isolated deficiency of vitamin E
Gnot provided
TTPA
(L183P)
Single nucleotide variant
(missense variant)
Familial isolated deficiency of vitamin E
Gnot provided
TTPA
(K177fs)
Indel
(frameshift variant)
Familial isolated deficiency of vitamin E
GPathogenic
TTPA
(T172fs)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic
TTPA
(W163fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TTPA
(E141K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TTPA
(R134*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TTPA
(A120T)
Single nucleotide variant
(missense variant)
Familial isolated deficiency of vitamin E
+1 more
GConflicting classifications of pathogenicity
TTPA
(H101Q)
Single nucleotide variant
(missense variant)
Familial isolated deficiency of vitamin E
GPathogenic
TTPA
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
TTPA
(D64G)
Single nucleotide variant
(missense variant)
Familial isolated deficiency of vitamin E
Gnot provided
TTPA
(R59W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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