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Links from MedGen

Items: 1 to 100 of 425

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPC
(Y392C +2 more)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum, group C
+1 more
GLikely pathogenic
ERCC2
(R601L)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 2
+2 more
GPathogenic/Likely pathogenic
ERCC2
(R64* +1 more)
Single nucleotide variant
(nonsense)
Cerebrooculofacioskeletal syndrome 2
+2 more
GPathogenic/Likely pathogenic
ERCC4
(Y101*)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum
GLikely pathogenic
ERCC4
Single nucleotide variant
(splice acceptor variant)
Xeroderma pigmentosum
GLikely pathogenic
ERCC2
(L461V +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GPathogenic
XPC
Deletion
Xeroderma pigmentosum
GLikely pathogenic
BIVM-ERCC5, ERCC5
(R964fs +1 more)
Deletion
(frameshift variant)
Xeroderma pigmentosum
GLikely pathogenic
POLH
Deletion
Xeroderma pigmentosum
GLikely pathogenic
ERCC3
(E370* +1 more)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum
+2 more
GPathogenic
XPA
(D212fs +1 more)
Duplication
(frameshift variant +1 more)
Xeroderma pigmentosum
+2 more
GPathogenic/Likely pathogenic
ERCC2
(E42* +1 more)
Indel
(nonsense)
Cerebrooculofacioskeletal syndrome 2
+2 more
GPathogenic/Likely pathogenic
XPA
Deletion
(nonsense +2 more)
Xeroderma pigmentosum
GLikely pathogenic
ERCC2
(V714fs)
Deletion
(frameshift variant)
Xeroderma pigmentosum
+1 more
GPathogenic/Likely pathogenic
POLH, POLR1C
(D236fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
XPA
Single nucleotide variant
(splice donor variant)
Xeroderma pigmentosum
GLikely pathogenic
BIVM-ERCC5, ERCC5
(S1113fs +1 more)
Deletion
(frameshift variant)
Xeroderma pigmentosum
GPathogenic
POLH, POLR1C
Duplication
(intron variant)
not provided
+1 more
GBenign/Likely benign
POLH, POLR1C
Duplication
(intron variant +1 more)
Xeroderma pigmentosum
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
POLH, POLR1C
(T156M)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
+1 more
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
Xeroderma pigmentosum
GLikely benign
POLH, POLR1C
(S138L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
POLH, POLR1C
(F583V +1 more)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum
GUncertain significance
POLH, POLR1C
(K70N +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
POLH, POLR1C
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
POLH, POLR1C
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
POLH, POLR1C
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
POLH, POLR1C
(N421K +1 more)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum
GUncertain significance
POLH, POLR1C
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
POLH, POLR1C
Deletion
(inframe deletion +2 more)
Xeroderma pigmentosum
GUncertain significance
POLH, POLR1C
(G45D)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
POLH, POLR1C
(K270R +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
POLH, POLR1C
(Q38E)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
POLH, POLR1C
(R210G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ERCC4, LOC130058543
(V33A)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum
GLikely benign
ERCC4
(L798V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC4
(G734S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+3 more
GUncertain significance
ERCC4
(S693I)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC4
Single nucleotide variant
(splice donor variant)
Xeroderma pigmentosum
GLikely pathogenic
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum
GUncertain significance
ERCC4
(G611R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+4 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum
GLikely benign
ERCC4
(E429K)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC4
(G403R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+3 more
GUncertain significance
LOC129936244, XPC
(E31K)
Single nucleotide variant
(5 prime UTR variant +3 more)
Xeroderma pigmentosum
GUncertain significance
LOC129936244, XPC
(R3Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum
GUncertain significance
XPC
Single nucleotide variant
(synonymous variant +2 more)
Xeroderma pigmentosum
+1 more
GLikely benign
XPC
(M112V +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum
+1 more
GConflicting classifications of pathogenicity
XPC
(D692E +4 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPC
(A685V +4 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPC
(S676G +4 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPC
(V81L +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum, group C
+2 more
GUncertain significance
XPC
(R665G +4 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPC
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum
GUncertain significance
XPC
(R525Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPC
(G63R +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum
+1 more
GUncertain significance
XPC
Single nucleotide variant
(synonymous variant +2 more)
Xeroderma pigmentosum
GUncertain significance
XPC
(G48R +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum
GUncertain significance
LOC129936244, XPC
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum
GLikely benign
LOC129936244, XPC
(K4E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum
GUncertain significance
XPC
(E144K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Xeroderma pigmentosum
GUncertain significance
ERCC2
(R275W +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ERCC2
(D688E)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
+1 more
GUncertain significance
ERCC2
(D673N)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
+2 more
GUncertain significance
ERCC2
(I632L)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
+1 more
GUncertain significance
ERCC2
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum
GUncertain significance
ERCC2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ERCC2
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum
GUncertain significance
ERCC2
(F448S)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC2
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum
GUncertain significance
XPA
(R30Q)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum
GUncertain significance
XPA
(R216H +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPA
(A26P)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum
GUncertain significance
XPA
(G205R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
XPA
(E160A +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPA
(L158S +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum group A
+1 more
GUncertain significance
XPA
(P119L +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPA
Single nucleotide variant
(synonymous variant +1 more)
Xeroderma pigmentosum
GUncertain significance
XPA
(A7V)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum
GUncertain significance
XPA
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
ERCC3
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum
GLikely benign
ERCC3
(S157F +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC3
(T149A +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC3
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum
+1 more
GConflicting classifications of pathogenicity
ERCC3
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum
GLikely benign
ERCC3
(V129A +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC3
Single nucleotide variant
(splice acceptor variant)
Xeroderma pigmentosum
GLikely pathogenic
ERCC3
(M686V +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
+1 more
GUncertain significance
ERCC3
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum
GLikely benign
ERCC3
(Q571R +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC3
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum
GUncertain significance
ERCC3
(K440Q +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC3
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum
GLikely benign
ERCC3
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum
GUncertain significance
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