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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC4, LOC130058543
(G40R)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
GUncertain significance
ERCC4, LOC130058543
(E19K)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+3 more
GLikely benign
ERCC4
(R670Q)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+4 more
GUncertain significance
ERCC4
(P526L)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+3 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
XFE progeroid syndrome
+3 more
GBenign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+3 more
GBenign
ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+3 more
GLikely benign
ERCC4
(P696L)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+3 more
GUncertain significance
ERCC4
(R158C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(Q496H)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(E448Q)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
+3 more
GLikely benign
ERCC4
(S312A)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+3 more
GUncertain significance
ERCC4
(R158H)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GUncertain significance
ERCC4
(I729T)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
+5 more
GUncertain significance
ERCC4
(A235T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
ERCC4
(H868P)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+4 more
GUncertain significance
ERCC4
Deletion
(splice acceptor variant +1 more)
XFE progeroid syndrome
+2 more
GPathogenic/Likely pathogenic
ERCC4
(R740C)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
+4 more
GUncertain significance
ERCC4
(V81I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+3 more
GConflicting classifications of pathogenicity
ERCC4
(R576S)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GUncertain significance
ERCC4
(G559D)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GUncertain significance
ERCC4
(Q406R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+4 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+5 more
GBenign
ERCC4
Single nucleotide variant
(synonymous variant)
XFE progeroid syndrome
+5 more
GBenign/Likely benign
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+5 more
GBenign
ERCC4
(R576T)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
ERCC4
(S521R)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
ERCC4
(P379S)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+7 more
GConflicting classifications of pathogenicity
ERCC4
(I73V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+4 more
GUncertain significance
ERCC4
(I706T)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+8 more
GConflicting classifications of pathogenicity
ERCC4, LOC130058543
(L27F)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+4 more
GUncertain significance
ERCC4, LOC130058543
(P6S)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+7 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+5 more
GBenign
ERCC4
(R589W)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
+6 more
GPathogenic/Likely pathogenic
ERCC4
(R153P)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
GPathogenic
ERCC4
(R799W)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+8 more
GConflicting classifications of pathogenicity
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