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Links from MedGen

Items: 1 to 100 of 186

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD9, CFAP92
(S479F +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Mitochondrial complex I deficiency
GLikely pathogenic
NDUFV1
(V236M +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
+2 more
GConflicting classifications of pathogenicity
NDUFAF7
(A308V +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Mitochondrial complex I deficiency
Gnot provided
ACAD9
Single nucleotide variant
(splice acceptor variant)
Mitochondrial complex I deficiency
GLikely pathogenic
ACAD9, CFAP92
Deletion
(3 prime UTR variant +1 more)
Mitochondrial complex I deficiency
+2 more
GLikely pathogenic
ACAD9
Duplication
(splice donor variant)
Mitochondrial complex I deficiency
+1 more
GPathogenic/Likely pathogenic
NDUFAF5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDUFS6
(Q118R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
+2 more
GConflicting classifications of pathogenicity
NDUFB10
Single nucleotide variant
(intron variant)
Mitochondrial complex I deficiency
GLikely pathogenic
ELAC2
(S511Y +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 17
+2 more
GUncertain significance
ELAC2
(Q483* +2 more)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 17
+2 more
GConflicting classifications of pathogenicity
ACAD9
Deletion
(splice acceptor variant)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GLikely pathogenic
NDUFS6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFAF5
Microsatellite
(intron variant)
Mitochondrial complex 1 deficiency, nuclear type 16
+1 more
GBenign/Likely benign
NDUFAF5
(V138I)
Single nucleotide variant
(5 prime UTR variant +3 more)
Mitochondrial complex 1 deficiency, nuclear type 16
+1 more
GConflicting classifications of pathogenicity
NDUFS6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFAF5
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFAF5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDUFAF5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDUFAF5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
NDUFS6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130065433, NDUFAF5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
NDUFAF5
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
NDUFS6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC130065433, NDUFAF5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MRPL36, NDUFS6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFS6
(L11V)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GConflicting classifications of pathogenicity
NDUFAF5
(M251T +3 more)
Single nucleotide variant
(missense variant +1 more)
NDUFAF5-related condition
+2 more
GLikely benign
NDUFS6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(R119Q +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
+1 more
GConflicting classifications of pathogenicity
NDUFAF1
(I301F)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFS2
(R166fs)
Deletion
(frameshift variant +1 more)
Mitochondrial complex I deficiency
GUncertain significance
NDUFAF5, LOC130065433
(R9G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
NDUFS4
(D119H)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GConflicting classifications of pathogenicity
NDUFV1
(N164S +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
Gnot provided
NUBPL
(M117V +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency
GUncertain significance
NDUFS1
(C710Y +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFS1
(R417G +4 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
GUncertain significance
ARHGAP5-AS1, DTD2
+35 more
Deletion
Mitochondrial complex I deficiency
GUncertain significance
NDUFAF5
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
NDUFS4
Duplication
(3 prime UTR variant +2 more)
Mitochondrial complex I deficiency
+1 more
GUncertain significance
FOXRED1
(P190S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFV1
(N244I +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
GUncertain significance
NDUFS3
(R199Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FOXRED1
(G211A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAD9
Single nucleotide variant
(intron variant)
Mitochondrial complex I deficiency
GUncertain significance
LOC126861242, NDUFV1
(R386H +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+4 more
GConflicting classifications of pathogenicity
SLC25A10
(P192S)
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial complex I deficiency
GLikely pathogenic
SLC25A10
(K102*)
Single nucleotide variant
(nonsense)
Mitochondrial complex I deficiency
+1 more
GLikely pathogenic
LOC126861242, NDUFV1
(F373S +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GLikely pathogenic
Acyl-CoA dehydrogenase 9 deficiency
GLikely pathogenic
Acyl-CoA dehydrogenase 9 deficiency
GPathogenic
Acyl-CoA dehydrogenase 9 deficiency
GPathogenic
Acyl-CoA dehydrogenase 9 deficiency
GPathogenic
Acyl-CoA dehydrogenase 9 deficiency
GPathogenic
Acyl-CoA dehydrogenase 9 deficiency
GPathogenic
NDUFS3
(R125H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFS1
(T303S +4 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 5
+1 more
GUncertain significance
NDUFAF5
(R82H)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
NDUFS6
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
NDUFAF5
(N150S)
Single nucleotide variant
(5 prime UTR variant +3 more)
Mitochondrial complex 1 deficiency, nuclear type 16
+1 more
GBenign/Likely benign
FOXRED1
(R136W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+2 more
GPathogenic/Likely pathogenic
NDUFV1
(S56P +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
NDUFAF5
(G250V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
NDUFV2, NDUFV2-AS1
Single nucleotide variant
Mitochondrial complex I deficiency
+1 more
GBenign/Likely benign
NDUFAF4
Deletion
(5 prime UTR variant)
Mitochondrial complex I deficiency
GUncertain significance
NDUFAF4
Duplication
(intron variant)
Mitochondrial complex I deficiency
+2 more
GBenign/Likely benign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency
GUncertain significance
ERCC8, NDUFAF2
(D6E)
Single nucleotide variant
(missense variant)
Leigh syndrome
+2 more
GUncertain significance
NDUFAF2
Microsatellite
(5 prime UTR variant)
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFAF2
Single nucleotide variant
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFAF2
Single nucleotide variant
Mitochondrial complex I deficiency
+1 more
GUncertain significance
ERCC8, NDUFAF2
Single nucleotide variant
not provided
+3 more
GBenign/Likely benign
ERCC8, NDUFAF2
Single nucleotide variant
Mitochondrial complex I deficiency
+3 more
GBenign
NDUFAF2
Single nucleotide variant
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFS4
Duplication
(intron variant)
not provided
+4 more
GBenign/Likely benign
NDUFS4
Deletion
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFS6
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GConflicting classifications of pathogenicity
NDUFAF3
Single nucleotide variant
(intron variant)
Mitochondrial complex I deficiency
GUncertain significance
NDUFA10
Single nucleotide variant
Mitochondrial complex I deficiency
+2 more
GConflicting classifications of pathogenicity
NDUFA10
Single nucleotide variant
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFA10
Single nucleotide variant
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFA10
Single nucleotide variant
(intron variant)
Leigh syndrome
+2 more
GConflicting classifications of pathogenicity
NDUFA10
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFA10
Indel
(3 prime UTR variant +1 more)
Leigh syndrome
+1 more
GUncertain significance
NDUFA10
Insertion
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
NDUFA10
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFS1
Deletion
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFS1
Deletion
(intron variant)
Mitochondrial complex I deficiency
+2 more
GConflicting classifications of pathogenicity
NDUFS1
Duplication
(intron variant)
Mitochondrial complex I deficiency
+2 more
GConflicting classifications of pathogenicity
NDUFS1
Deletion
(intron variant)
Leigh syndrome
+2 more
GConflicting classifications of pathogenicity
NDUFS1
Duplication
(3 prime UTR variant)
Mitochondrial complex I deficiency
+1 more
GUncertain significance
NDUFS1
Deletion
(3 prime UTR variant)
Mitochondrial complex I deficiency
+1 more
GLikely benign
NDUFS1
Duplication
(3 prime UTR variant)
Leigh syndrome
+1 more
GUncertain significance
LOC112552175, NDUFA11
Microsatellite
Mitochondrial complex I deficiency
GUncertain significance
NDUFA11
Microsatellite
(intron variant)
Mitochondrial complex I deficiency
GUncertain significance
GAMT, NDUFS7
Single nucleotide variant
(3 prime UTR variant)
Deficiency of guanidinoacetate methyltransferase
+3 more
GBenign/Likely benign
NDUFS7, GAMT
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
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