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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFS7
(Y179*)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 3
GLikely pathogenic
NDUFS7
(V174M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFS7
(D102N)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 3
GLikely pathogenic
NDUFS7
(L86V)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 3
+1 more
GConflicting classifications of pathogenicity
NDUFS7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
NDUFS7
Single nucleotide variant
(intron variant)
Mitochondrial complex 1 deficiency, nuclear type 3
+1 more
GBenign
NDUFS7
(D139N)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 3
GLikely pathogenic
NDUFS7
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
NDUFS7
(V147M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFS7
(P23L)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 3
+4 more
GBenign
NDUFS7
Single nucleotide variant
(intron variant)
Leigh syndrome
GLikely pathogenic
NDUFS7
(R145H)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 3
GPathogenic
NDUFS7
(V122M)
Single nucleotide variant
(missense variant)
Leigh syndrome
+2 more
GPathogenic/Likely pathogenic
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