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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
LOC121627902, LOC121853002
+160 more
Copy number gain
See cases
GPathogenic
ACSS2, ACTL10
+254 more
Copy number gain
See cases
GPathogenic
CDK5RAP1
(L562P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(F458S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(I414N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(P450L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(R390Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(E411Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(T437M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(G435R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(D350N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
CDK5RAP1
(Q347H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK5RAP1
(Q319R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK5RAP1
(R339C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK5RAP1
(S318G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK5RAP1
(I280V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CDK5RAP1
(R250W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(R272W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(S236N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(M228T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(M228L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDK5RAP1
(G221D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(R213W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(I151T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(R171C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(L141F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(R131Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP1
(A51T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK5RAP1
(R46S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK5RAP1
(S35G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACTL10, AHCY
+22 more
Deletion
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GPathogenic
ACSS2, ACTL10
+51 more
Deletion
Glutathione synthetase deficiency with 5-oxoprolinuria
GPathogenic
AAR2, ACSS2
+98 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+86 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+71 more
Copy number gain
not specified
GPathogenic
ACSS2, ACTL10
+53 more
Deletion
not provided
GPathogenic
ABHD12, ACSS1
+117 more
Copy number gain
not provided
GLikely pathogenic
PIGU, E2F1
+16 more
Copy number gain
not provided
GUncertain significance
AAR2, ACSS2
+88 more
Copy number gain
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
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