U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ6, ENTPD5
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
COQ6, ENTPD5
(D314V +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign
ENTPD5, COQ6
(V357fs +1 more)
Deletion
(frameshift variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(V381M +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
Format
Sort by
Choose Destination