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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
ACSS3, ATXN7L3B
+163 more
Copy number loss
See cases
GPathogenic
ACSS3, ALX1
+287 more
Copy number loss
See cases
GPathogenic
ACSS3, CSRP2
+69 more
Copy number loss
See cases
GLikely pathogenic
ACSS3, ALX1
+66 more
Copy number gain
See cases
GPathogenic
PPFIA2
(T1205N +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(K1036R +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(N1157D +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(T1005A +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(A655T +8 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PPFIA2
(R1088S +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2, PPFIA2-AS1
(L919F +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2, PPFIA2-AS1
Deletion
(intron variant)
not provided
GBenign
PPFIA2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPFIA2
(K714R +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(T855A +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(R62Q +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(G713R +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(N361S +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(A603E +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(M640I +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(R305W +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(H569R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(P286L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(S282G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(S613L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PPFIA2
(T549M +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(H569Y +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(T477I +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(D474E +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(P180A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(T170I +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(N502T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(P157S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(R564L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(V421I +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(R403Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(L372V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(E368G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PPFIA2
(R359H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
Deletion
(intron variant)
not provided
GBenign
PPFIA2
(D158E +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(K157R +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PPFIA2
(E304K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(E302K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(R198Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(I196T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(I261T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(I108V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPFIA2
(R181H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(G95V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(S236F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(G136R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPFIA2
(A93V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(T89R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(E86K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPFIA2
(D84G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPFIA2
(S72L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(T48S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(R44C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(G19R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPFIA2
(P14A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSS3, ATXN7L3B
+23 more
Copy number loss
not specified
GUncertain significance
ACSS3, ALX1
+43 more
Copy number loss
not specified
GPathogenic
PPFIA2
Copy number loss
not provided
GUncertain significance
ACSS3, ALX1
+12 more
Copy number loss
not provided
GUncertain significance
OTOGL, ACSS3
+8 more
Copy number loss
not provided
GUncertain significance
ACSS3, LIN7A
+1 more
Copy number loss
not provided
GUncertain significance
PPFIA2
Copy number gain
not provided
GUncertain significance
ACSS3, ALX1
+46 more
Copy number loss
not provided
GPathogenic
ACSS3, PPFIA2
Copy number loss
not provided
GUncertain significance
PPFIA2
Copy number loss
not provided
GUncertain significance
METTL25, PPFIA2
+1 more
Copy number gain
not provided
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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