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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFAF2
(R17K)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 10
GUncertain significance
NDUFAF2
(I88T)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 10
GUncertain significance
NDUFAF2
(Y62fs)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 10
GPathogenic
NDUFAF2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NDUFAF2
(W3*)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 10
GPathogenic
NDUFAF2
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
NDUFAF2
(W74*)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 10
+2 more
GPathogenic/Likely pathogenic
ERCC8, NDUFAF2
(Y38*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GConflicting classifications of pathogenicity
NDUFAF2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
ERCC8, NDUFAF2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
NDUFAF2
(I35fs)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 10
GPathogenic
NDUFAF2
(R47*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
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