U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
RPS13
(K78R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
ABCC8, KCNC1
+12 more
Copy number gain
not specified
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
PIK3C2A, PLEKHA7
+1 more
Copy number gain
not provided
GLikely benign
LDHA, SLC5A12
+67 more
Copy number gain
not provided
GPathogenic
DKK3, DNAJC24
+116 more
Copy number gain
not provided
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
PIK3C2A, PLEKHA7
+1 more
Copy number gain
not provided
GUncertain significance
ABCC8, C11orf58
+22 more
Copy number gain
not provided
GUncertain significance
ABCC8, C11orf58
+13 more
Copy number gain
not provided
GUncertain significance
PIK3C2A, PLEKHA7
+1 more
Copy number gain
not provided
GUncertain significance
ADM, AKIP1
+258 more
Copy number gain
not provided
GPathogenic
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ASCL3, CEND1
+305 more
Copy number gain
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination