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Links from MedGen

Items: 1 to 100 of 237

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLH, POLR1C
(R167* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
POLH, POLR1C
(T191P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
POLH, POLR1C
(L414P +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
POLH, POLR1C
(T284fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum variant type
+2 more
GPathogenic/Likely pathogenic
POLH, POLR1C
(S213* +1 more)
Single nucleotide variant
(nonsense +1 more)
See cases
+1 more
GPathogenic/Likely pathogenic
POLH, POLR1C
(R356* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
POLH, POLR1C
(Q397* +1 more)
Single nucleotide variant
(nonsense +2 more)
Xeroderma pigmentosum variant type
GLikely pathogenic
POLH, POLR1C
(L101fs +1 more)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GBenign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GLikely benign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLR1C, POLH
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLR1C, POLH
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
(Q400H +1 more)
Single nucleotide variant
(missense variant +1 more)
POLH-related disorder
+3 more
GLikely benign
POLH, POLR1C
(S523I +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
POLH, POLR1C
(I114T)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
(R84H +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
(P32S +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum variant type
+1 more
GConflicting classifications of pathogenicity
POLR1C, POLH
(M63I +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum variant type
GBenign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum variant type
GBenign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLR1C, POLH
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GBenign
POLR1C, POLH
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLR1C, POLH
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GLikely benign
POLH, POLR1C
(A469V +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
+1 more
GConflicting classifications of pathogenicity
POLH, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
Xeroderma pigmentosum
+2 more
GConflicting classifications of pathogenicity
POLH, POLR1C
(T264N +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
+2 more
GUncertain significance
POLH, POLR1C
(V12L)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
(V9F)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
GUncertain significance
POLR1C, POLH
(T3A)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
GUncertain significance
LOC129996521, POLH
+1 more
Single nucleotide variant
(5 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GBenign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GLikely benign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GBenign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
(R210W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLH, POLR1C
(I272T +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
+2 more
GConflicting classifications of pathogenicity
POLH, POLR1C
(A264V +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
+1 more
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(5 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GLikely benign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLR1C, POLH
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GBenign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GBenign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLR1C, POLH
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GLikely benign
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
POLH, POLR1C
(M527I +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
(L237V +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum variant type
+1 more
GConflicting classifications of pathogenicity
POLH, POLR1C
(G153D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
POLH, POLR1C
(I137V)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
GUncertain significance
POLH, POLR1C
(T568A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
POLH, POLR1C
(L584P +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
POLH, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
POLR1C, POLH
(T354M +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
POLH, POLR1C
(S51fs)
Duplication
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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