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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFA10
(P282S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GUncertain significance
NDUFA10
(R356G)
Single nucleotide variant
(missense variant +1 more)
NDUFA10-related disorder
+1 more
GConflicting classifications of pathogenicity
NDUFA10
(R370G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GUncertain significance
NDUFA10
(G306fs +1 more)
Insertion
(frameshift variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GUncertain significance
NDUFA10
(H186P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GUncertain significance
NDUFA10
Microsatellite
(inframe_deletion +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
+1 more
GConflicting classifications of pathogenicity
NDUFA10
(R326C)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 1 deficiency, nuclear type 22
+2 more
GUncertain significance
NDUFA10
(D197G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GUncertain significance
NDUFA10
(H202fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NDUFA10
Insertion
(inframe_insertion +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GPathogenic
NDUFA10
(L294P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GPathogenic
NDUFA10
(L135S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+4 more
GConflicting classifications of pathogenicity
NDUFA10
Deletion
(intron variant)
Mitochondrial complex I deficiency
+3 more
GBenign/Likely benign
NDUFA10
(E238K)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+4 more
GBenign/Likely benign
NDUFA10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
NDUFA10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
NDUFA10
(Q142R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GPathogenic
NDUFA10
(M1V)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 1 deficiency, nuclear type 22
GLikely pathogenic
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