U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DTYMK, LOC129936029
(H35Y)
Single nucleotide variant
(missense variant +1 more)
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
AGXT, ANO7
+15 more
Deletion
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination