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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FDFT1, LOC129999907
(K15N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
FDFT1, LOC129999907
(T33S)
Single nucleotide variant
(missense variant +1 more)
FDFT1-related disorder
+1 more
GBenign/Likely benign
LOC129999907, FDFT1
Single nucleotide variant
(synonymous variant +1 more)
FDFT1-related disorder
GBenign
FDFT1, LOC129999907
(D49E)
Single nucleotide variant
(missense variant +1 more)
FDFT1-related disorder
GLikely benign
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