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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
E2F3
(Q6H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(A8S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3, LOC129995947
(H104Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3, LOC129995947
(P116L)
Single nucleotide variant
(missense variant)
not provided
GBenign
E2F3
(E292D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(I304M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(I176S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(T342A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(L350I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(K378I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(D389N +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
E2F3
(A270S +1 more)
Single nucleotide variant
(missense variant)
E2F3-related disorder
GLikely benign
E2F3
(A404S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(P421L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(N424D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(E310G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(D321Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
(C333G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F3
Copy number loss
not specified
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
ATXN1, CAP2
+32 more
Copy number loss
not provided
GPathogenic
E2F3, CDKAL1
Copy number gain
not provided
GUncertain significance
ATXN1, CAP2
+21 more
Copy number loss
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Copy number gain
not provided
GPathogenic
CDKAL1, E2F3
Copy number gain
not provided
GUncertain significance
ADTRP, ATXN1
+93 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Duplication
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ATXN1, CAP2
+27 more
Copy number loss
See cases
GPathogenic
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
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