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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFA12
(Q135E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
NDUFA12
(K133del)
Microsatellite
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NDUFA12
(S128A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
NDUFA12
(V117M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
NDUFA12
(I109F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
NDUFA12
(S92C)
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
NDUFA12
(R88H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFA12
(G19D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFA12
(T15I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFA12
(Q13E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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