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Links from MedGen

Items: 1 to 100 of 567

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC4
(I554M)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
GUncertain significance
ERCC4
(G159D)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
GUncertain significance
ERCC4
(G321R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
GUncertain significance
ERCC4
Deletion
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4
Deletion
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Deletion
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4
(V642F)
Indel
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(R153H)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(G847C)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
(R692Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(Y619C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(T885M)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(G773R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(N308K)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(L291*)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(L790P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(Q881E)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(A67T)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(S246T)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(Y751C)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(R618L)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
(E70K)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(E447Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(A596V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(V178M)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(M451V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(D541G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(V23fs)
Deletion
(frameshift variant)
Cockayne syndrome
+2 more
GPathogenic
ERCC4
(A878V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(S520N)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(M12V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(M335V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(stop lost)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
(G105R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(N184D)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(R112S)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(I831V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(P708L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(A7V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
(A56V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
(G545R)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(V449A)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(V588A)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(V588I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ERCC4
(E456K)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(L793V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4, LOC130058543
(M1R)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(P602L)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GUncertain significance
ERCC4
(T667N)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+3 more
GUncertain significance
ERCC4
(G259E)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(K817Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Insertion
(inframe_insertion)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(R483fs)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group Q
+2 more
GPathogenic
ERCC4
(R618C)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(L884F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(M688L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(L329F)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
(I229V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Deletion
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(K871R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(H177Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(T903A)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(A383V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
(E836K)
Inversion
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(T667A)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(A565V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(E628A)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(Y606F)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GUncertain significance
ERCC4, LOC130058543
(R9G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(H137D)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(I107M)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(S666F)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(Q144R)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
(A36P)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(R702W)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(V106G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
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