U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATPAF2
(V171L)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
(R238H)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
+1 more
GUncertain significance
ATPAF2
Single nucleotide variant
(synonymous variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2, LOC130060410
(I33fs)
Deletion
(frameshift variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GLikely pathogenic
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2, LOC130060411
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2, LOC130060411
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2, LOC130060411
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
(R38L)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
(R189G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
(D138N)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
(R3K)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
+1 more
GUncertain significance
LOC130060409, ATPAF2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATPAF2, LOC130060411
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
+1 more
GBenign/Likely benign
ATPAF2, LOC130060411
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GLikely benign
ATPAF2
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
(E84K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATPAF2
(A212S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GBenign
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
+1 more
GBenign
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GBenign
ATPAF2
(A130E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATPAF2
(A268T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATPAF2
(L262P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATPAF2
(R14G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATPAF2
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
ATPAF2
(E241G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ATPAF2
(G12E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ATPAF2
Single nucleotide variant
(synonymous variant)
ATPAF2-related condition
+3 more
GBenign
ATPAF2
(V171M)
Single nucleotide variant
(missense variant)
ATPAF2-related condition
+3 more
GBenign/Likely benign
ATPAF2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATPAF2
(W94R)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
GPathogenic
Format
Items per page
Sort by
Choose Destination