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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFV1
(P276T +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GUncertain significance
LOC126861242, NDUFV1
(R405fs +1 more)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GLikely pathogenic
NDUFV1
Deletion
(inframe_indel)
Mitochondrial complex 1 deficiency, nuclear type 4
GUncertain significance
NDUFV1
(R150* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 4
GPathogenic
NDUFV1
(G321S +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+1 more
GUncertain significance
NDUFV1
(T95A +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+1 more
GUncertain significance
NDUFV1
(R174* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 4
+1 more
GPathogenic/Likely pathogenic
NDUFV1
(E237K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NDUFV1
(R143H +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GUncertain significance
LOC126861242, NDUFV1
(G379D +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GLikely pathogenic
LOC126861242, NDUFV1
(G421R +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GUncertain significance
LOC126861242, NDUFV1
(I354V +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+1 more
GUncertain significance
NDUFV1
(W42fs +1 more)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GLikely pathogenic
NDUFV1
(Y103* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 4
GPathogenic
NDUFV1
(R258fs +1 more)
Duplication
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GPathogenic
NDUFV1
(S167A +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GUncertain significance
NDUFV1
(K104N +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+1 more
GUncertain significance
LOC126861242, NDUFV1
(R396W +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+2 more
GUncertain significance
NDUFV1
(S74L +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+1 more
GConflicting classifications of pathogenicity
LOC126861242, NDUFV1
(L438M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NDUFV1
(R224C +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GUncertain significance
LOC126861242, NDUFV1
(R386H +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+4 more
GConflicting classifications of pathogenicity
LOC126861242, NDUFV1
(F373S +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GLikely pathogenic
LOC126861242, NDUFV1
(R386C +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GPathogenic/Likely pathogenic
LOC126861242, NDUFV1
Single nucleotide variant
(intron variant)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GPathogenic/Likely pathogenic
NDUFV1
(S56P +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LOC126861242, NDUFV1
(R460W +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+5 more
GUncertain significance
NDUFV1
(A117T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NDUFV1
(E214K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
NDUFV1
(A341V +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+2 more
GPathogenic/Likely pathogenic
NDUFV1
(R59* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 4
+2 more
GPathogenic
LOC126861242, NDUFV1
(T423M +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
+4 more
GPathogenic/Likely pathogenic
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