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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFAF1
(Y209fs)
Deletion
(frameshift variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 11
GUncertain significance
NDUFAF1
(V67I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 11
+2 more
GUncertain significance
NDUFAF1
(K153E)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
NDUFAF1
(A171V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NDUFAF1
(I186M)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
NDUFAF1
(E176K)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
NDUFAF1
(R31L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
NDUFAF1
(R9H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
NDUFAF1
(G245R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 11
+1 more
GUncertain significance
NDUFAF1
(R211C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDUFAF1
(K253R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDUFAF1
(T207P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 11
GPathogenic
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