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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APTX
(P330H +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
(R318H +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +1 more)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+3 more
GConflicting classifications of pathogenicity
APTX
(L248M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
APTX
(R199H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
APTX
Deletion
(intron variant)
not specified
+1 more
GLikely benign
APTX
Deletion
(intron variant)
not specified
+1 more
GBenign/Likely benign
APTX
Deletion
(intron variant)
not specified
+2 more
GBenign
APTX
Deletion
(intron variant)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+4 more
GBenign/Likely benign
APTX
Deletion
(intron variant)
not provided
GConflicting classifications of pathogenicity
APTX
(S144Y +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
APTX
(W6C)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
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