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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
MIR4455, MIR548T
+369 more
Copy number gain
See cases
GPathogenic
ANKRD37, CCDC110
+69 more
Copy number gain
See cases
GPathogenic
CYP4V2, F11
+18 more
Copy number gain
See cases
GUncertain significance
TLR3
(L412F)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
TLR3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ANKRD37, CCDC110
+19 more
Copy number loss
See cases
GPathogenic
SCOC, SCRG1
+218 more
Copy number gain
See cases
GPathogenic
ACSL1, AGA
+43 more
Copy number loss
See cases
GPathogenic
ACSL1, AGA
+37 more
Copy number loss
See cases
GPathogenic
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