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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OR6B3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126806582, OR6B3
(T48I)
Single nucleotide variant
(missense variant)
not provided
GBenign
DTYMK, ESPNL
+55 more
Deletion
Bethlem myopathy 1A
GPathogenic
ACKR3, AGAP1
+59 more
Deletion
Bethlem myopathy 1A
GPathogenic
AGXT, OR6B3
+53 more
Deletion
D-2-hydroxyglutaric aciduria 1
GPathogenic
LRRFIP1, MAB21L4
+53 more
Duplication
D-2-hydroxyglutaric aciduria 1
+3 more
GUncertain significance
ACKR3, AGAP1
+59 more
Duplication
not provided
GUncertain significance
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