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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLQ
(D1784Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
POLQ
(G1751W)
Single nucleotide variant
(missense variant)
not provided
GBenign
POLQ
(Q1565H)
Single nucleotide variant
(missense variant)
not provided
GBenign
POLQ
(H1545Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
POLQ
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
POLQ
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
POLQ
(P1056L)
Single nucleotide variant
(missense variant)
not provided
GBenign
POLQ
(E964A)
Single nucleotide variant
(missense variant)
not provided
GBenign
POLQ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POLQ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POLQ
(R516C)
Single nucleotide variant
(missense variant)
not provided
GBenign
POLQ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POLQ
(H225Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
MBD4, MCM2
+109 more
Deletion
Alkaptonuria
GPathogenic
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