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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
LOC130065574, LOC130065575
+950 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
ADIG
(P7L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIG
(T13K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIG
(P24S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIG
(R36H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIG
(L38F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIG
(L39F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIG
(S49R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIG
(R77K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIG
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
ACTR5, ADIG
+6 more
Duplication
not provided
GUncertain significance
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
DZANK1, E2F1
+540 more
Copy number gain
See cases
GPathogenic
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