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Links from MedGen

Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPA
Single nucleotide variant
(splice donor variant)
Xeroderma pigmentosum group A
GPathogenic
XPA
Single nucleotide variant
(splice donor variant)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(E159fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(E41fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(K121fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Single nucleotide variant
(splice acceptor variant)
Xeroderma pigmentosum group A
+1 more
GLikely pathogenic
XPA
(G95R +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum group A
+1 more
GPathogenic
XPA
(P206fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(C108fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(E150* +1 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Deletion
(intron variant)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(splice acceptor variant)
Xeroderma pigmentosum group A
+1 more
GConflicting classifications of pathogenicity
XPA
(E203K +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(M172fs +1 more)
Duplication
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GPathogenic
XPA
(D212fs +1 more)
Duplication
(frameshift variant +1 more)
Xeroderma pigmentosum
+2 more
GPathogenic/Likely pathogenic
XPA
(Q132* +1 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum group A
+1 more
GPathogenic
XPA
(L158S +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum group A
+1 more
GUncertain significance
XPA
(Y139fs +1 more)
Microsatellite
(frameshift variant +1 more)
Xeroderma pigmentosum group A
+1 more
GPathogenic
XPA
(A41V)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum group A
+1 more
GUncertain significance
XPA
(K141* +1 more)
Duplication
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
Single nucleotide variant
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(D5Y)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
XPA
(Q16R)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(K151R +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(I123T +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic
XPA
Single nucleotide variant
(synonymous variant +1 more)
Xeroderma pigmentosum group A
+1 more
GConflicting classifications of pathogenicity
XPA
(V55I +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum group A
+2 more
GBenign/Likely benign
XPA
(K146fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(M231fs +1 more)
Duplication
(frameshift variant +1 more)
not specified
+1 more
GUncertain significance
XPA
(D134del +1 more)
Microsatellite
(inframe_deletion +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Microsatellite
(nonsense +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(L200* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Single nucleotide variant
(splice donor variant)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(K259* +1 more)
Duplication
(nonsense +1 more)
Xeroderma pigmentosum group A
+1 more
GPathogenic/Likely pathogenic
XPA
(E111* +1 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum group A
+2 more
GPathogenic
XPA
(Q216fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
(M178fs +1 more)
Duplication
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
(D89fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Single nucleotide variant
(5 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Deletion
(inframe_deletion +3 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(S115del +1 more)
Deletion
(inframe_deletion +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Deletion
Xeroderma pigmentosum group A
GUncertain significance
XPA
(E159fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
Deletion
(inframe_deletion +3 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(L149fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(P24fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(E117fs +1 more)
Microsatellite
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(R231del +1 more)
Microsatellite
(inframe_deletion +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(E79* +1 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Microsatellite
(inframe_deletion +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(splice donor variant)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Duplication
(inframe_insertion +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(E101fs +1 more)
Microsatellite
(frameshift variant +1 more)
Xeroderma pigmentosum
+2 more
GPathogenic/Likely pathogenic
XPA
(R158fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
Microsatellite
(nonsense +1 more)
Xeroderma pigmentosum group A
+1 more
GPathogenic/Likely pathogenic
XPA
Deletion
(splice donor variant)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
Deletion
(inframe_deletion +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(L226* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
(R169fs +1 more)
Duplication
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(K151* +1 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum group A
GPathogenic/Likely pathogenic
XPA
(Q216* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
(V181fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
XPA
(M113fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
(C126W +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
+1 more
GConflicting classifications of pathogenicity
XPA
Single nucleotide variant
(splice donor variant)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(E253del +1 more)
Microsatellite
(non-coding transcript variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(E245* +1 more)
Duplication
(nonsense +1 more)
Xeroderma pigmentosum group A
+1 more
GPathogenic/Likely pathogenic
XPA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely pathogenic
XPA
(M1T)
Single nucleotide variant
(missense variant +3 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(R211* +1 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum
+2 more
GPathogenic/Likely pathogenic
XPA
(E147del +1 more)
Deletion
(inframe_deletion +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(A4fs)
Deletion
(frameshift variant +2 more)
Xeroderma pigmentosum group A
+1 more
GPathogenic/Likely pathogenic
XPA
(R130K +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
+1 more
GConflicting classifications of pathogenicity
XPA
(K183fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(Q185H +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
+3 more
GPathogenic/Likely pathogenic
XPA
(V90fs +1 more)
Duplication
(frameshift variant +1 more)
Xeroderma pigmentosum group A
+1 more
GPathogenic
XPA
Deletion
(inframe_indel +1 more)
Xeroderma pigmentosum group A
GLikely pathogenic
XPA
(R216fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
XPA
(C108Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
XPA
(K217fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
+2 more
GPathogenic
XPA
Single nucleotide variant
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(5 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
XPA
(H244R +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum group A
+2 more
GConflicting classifications of pathogenicity
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
XPA
Single nucleotide variant
(3 prime UTR variant +1 more)
Xeroderma pigmentosum group A
GUncertain significance
XPA
(T125fs +1 more)
Deletion
(frameshift variant +1 more)
Xeroderma pigmentosum group A
GPathogenic
XPA
(Q185* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
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