U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAG2, BEND6
+147 more
Copy number gain
See cases
GPathogenic
ADGRB3, ADGRB3-DT
+105 more
Copy number gain
See cases
GPathogenic
LOC128125822, PTP4A1
(N15S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
LOC128125822, PTP4A1
(Q63H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC128125822, PTP4A1
(R77H +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
LOC128125822, PTP4A1
(A152S +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
LOC128125822, PTP4A1
(R122H +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC128125822, PTP4A1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
EYS, KHDRBS2
+3 more
Copy number loss
not provided
GUncertain significance
PAQR8, PGK2
+92 more
Copy number gain
not provided
GLikely pathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination