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Links from MedGen

Items: 1 to 100 of 691

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(R468fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group Q
+2 more
GPathogenic
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(L879fs)
Deletion
(frameshift variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(L790R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(D30E)
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
(S459L)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(D731N)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(T93I)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(K356E)
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
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(I684V)
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
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
(T64S)
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
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(A430D)
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
GUncertain significance
ERCC4, LOC130058543
(E25Q)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(R150P)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(T221A)
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
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(H807N)
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
(V88I)
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
(S743G)
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
Microsatellite
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(H83Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(F544L)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(G105A)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(T614A)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(N862S)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(Q50*)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(K467R)
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
(L284fs)
Deletion
(frameshift variant)
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4
(I759M)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(I634V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(Q296*)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4
(Y98C)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(R314fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group Q
+2 more
GPathogenic
ERCC4, LOC130058543
(C53Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(W274R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(E141K)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(D271Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(R468S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(I704V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(M218V)
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
(G402R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(D824V)
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
(S459*)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(A565T)
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
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
LOC130058543, ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(Q286*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group Q
+2 more
GPathogenic
ERCC4
(S283Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(E842*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(V578M)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
(N244H)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
(Y610H)
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
(I634M)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Duplication
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GBenign
ERCC4
(S886G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
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