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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATPAF2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ATPAF2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ATPAF2
(V171M)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
+3 more
GBenign/Likely benign
ATPAF2
Single nucleotide variant
(synonymous variant)
ATPAF2-related disorder
+1 more
GLikely benign
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