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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
ANKDD1B
(D2E)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKDD1B
(L19fs)
Deletion
(frameshift variant)
not provided
GBenign
ANKDD1B
(A60D)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKDD1B
(R181H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANKDD1B
(H245R)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKDD1B
(V292A)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKDD1B
(N318K)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKDD1B
(Q462*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign
ANKDD1B
(W463*)
Single nucleotide variant
(nonsense)
not provided
GBenign
ANKDD1B
(R470H)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
ANKDD1B
(L495V)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKDD1B, ANKRD31
+9 more
Duplication
not provided
GUncertain significance
ACOT12, ADGRV1
+98 more
Copy number gain
not provided
GPathogenic
ANKDD1B, POC5
+1 more
Copy number loss
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
ANKDD1B, CERT1
+1 more
Copy number gain
not provided
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
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