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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM126A
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive optic atrophy, OPA7 type
+2 more
GConflicting classifications of pathogenicity
TMEM126A
(R64C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TMEM126A
(R64H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
TMEM126A
(R105Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMEM126A
Single nucleotide variant
(intron variant)
Autosomal recessive optic atrophy, OPA7 type
+2 more
GBenign
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