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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC4, LOC130058543
(S3L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ERCC4, LOC130058543
(P6S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+6 more
GUncertain significance
ERCC4
(Y71H)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+4 more
GConflicting classifications of pathogenicity
ERCC4
(N308fs)
Deletion
(frameshift variant)
Cockayne syndrome
+3 more
GPathogenic/Likely pathogenic
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