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Links from MedGen

Items: 1 to 100 of 481

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SURF1
(H271R +1 more)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
SURF1
(A13fs)
Deletion
(5 prime UTR variant +1 more)
Leigh syndrome
+1 more
GPathogenic
COX18
(D222H +3 more)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
SCO1
(P74S)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
SURF1
(H162fs +1 more)
Duplication
(frameshift variant)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
SURF1
(Q63*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cytochrome-c oxidase deficiency disease
GPathogenic
SURF1
Single nucleotide variant
(splice donor variant)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
SURF1
(L76*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
LOC130002899, SURF1
(S22fs)
Deletion
(frameshift variant +1 more)
Cytochrome-c oxidase deficiency disease
+1 more
GPathogenic/Likely pathogenic
LOC130002899, SURF1
(G17*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
SURF1
(K186fs +1 more)
Duplication
(frameshift variant)
Cytochrome-c oxidase deficiency disease
GPathogenic
SURF1
(G151E +1 more)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
SURF1
(G195V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SURF1
(V191fs +1 more)
Microsatellite
(frameshift variant)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
SURF1
Deletion
(splice donor variant)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
SURF1
Single nucleotide variant
(splice acceptor variant)
Cytochrome-c oxidase deficiency disease
GPathogenic
SURF1
(G195D +1 more)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
SURF1
(S177P +1 more)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
SURF1
(M126V +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GConflicting classifications of pathogenicity
SURF1
(K185fs +1 more)
Deletion
(frameshift variant)
Cytochrome-c oxidase deficiency disease
+2 more
GPathogenic
SURF1
(R192Q +1 more)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
+2 more
GConflicting classifications of pathogenicity
SURF1
(S52fs)
Duplication
(5 prime UTR variant +1 more)
not provided
+1 more
GPathogenic
SURF1
(G36R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SURF1
(T164I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SURF1
(R123fs +1 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
SURF1
(D170N +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCO1
(K89fs)
Duplication
(frameshift variant)
Cytochrome-c oxidase deficiency disease
GPathogenic
COX8A
(W57C)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
TACO1
(R33fs)
Duplication
(frameshift variant)
Cytochrome-c oxidase deficiency disease
GPathogenic
COA8
(G23C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COX10
(V227I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COX10
(P213S)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
COA8
Duplication
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TACO1
(K159R)
Single nucleotide variant
(missense variant)
Mitochondrial complex 4 deficiency, nuclear type 8
+1 more
GUncertain significance
LOC112529895, SCO1
(P32A)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
+2 more
GUncertain significance
SCO1
(K210Q)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
(P151L)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
TACO1
(D195fs)
Deletion
(frameshift variant)
Cytochrome-c oxidase deficiency disease
GLikely pathogenic
NCAPH2, SCO2
(V181I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cytochrome-c oxidase deficiency disease
+3 more
GUncertain significance
NCAPH2, SCO2
(R58Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GUncertain significance
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
(D624Y)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 44
+1 more
GUncertain significance
FASTKD2
(D544N)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(intron variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2, LOC129935479
Single nucleotide variant
(5 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GLikely benign
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
(S345N)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(synonymous variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2, LOC129935479
Single nucleotide variant
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GLikely benign
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(synonymous variant)
Cytochrome-c oxidase deficiency disease
+1 more
GConflicting classifications of pathogenicity
FASTKD2
(A238T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FASTKD2
(Q228P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 44
+1 more
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GLikely benign
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
FASTKD2
Single nucleotide variant
(3 prime UTR variant)
Cytochrome-c oxidase deficiency disease
GLikely benign
FASTKD2
(E681K)
Single nucleotide variant
(missense variant)
Cytochrome-c oxidase deficiency disease
GUncertain significance
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