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Items: 1 to 100 of 276

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLH
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
(F18fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
(A35V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GBenign
POLH
Duplication
(intron variant)
not provided
GBenign
POLH
Deletion
(intron variant)
not provided
GBenign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
(S51fs)
Duplication
(frameshift variant +1 more)
Xeroderma pigmentosum variant type
+1 more
GPathogenic/Likely pathogenic
POLH
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
POLH
(V4A)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
POLH
(H5L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
POLH
(H5R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
POLH
(A68fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
POLH
(S19N)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
POLH
(Y25C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLH
(S38*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Deletion
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
(Y118*)
Duplication
(nonsense +1 more)
not provided
GPathogenic
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
(Q126*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
POLH
(E127fs)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
(Q130*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
(Y146*)
Duplication
(nonsense +1 more)
not provided
GPathogenic
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
POLH
(G153D)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
+1 more
GUncertain significance
POLH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLH
(E164*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum variant type
+1 more
GConflicting classifications of pathogenicity
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
(R167* +1 more)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum variant type
+1 more
GPathogenic
POLH
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum variant type
+1 more
GConflicting classifications of pathogenicity
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
(T191P +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
+1 more
GLikely pathogenic
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
(G209V +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
+3 more
GBenign/Likely benign
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Duplication
(intron variant)
not provided
GBenign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
POLH
(L101fs +1 more)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLH
(N233S +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
+1 more
GConflicting classifications of pathogenicity
POLH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
POLH
(S242* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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