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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSFM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TSFM
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSFM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TSFM
(K65R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TSFM
(L287H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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