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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC8, ERCC8-AS1
(Y5H)
Single nucleotide variant
(synonymous variant +1 more)
Cockayne syndrome type 1
+2 more
GLikely benign
ERCC8
(R115* +2 more)
Single nucleotide variant
(nonsense)
UV-sensitive syndrome 2
+3 more
GPathogenic/Likely pathogenic
ERCC8
(G257R +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+3 more
GPathogenic/Likely pathogenic
ERCC8
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 1
+2 more
GPathogenic/Likely pathogenic
ERCC8
(D338N +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
+2 more
GConflicting classifications of pathogenicity
ERCC8, ERCC8-AS1
(Y100* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
ERCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
ERCC8
(W361C +2 more)
Single nucleotide variant
(missense variant)
UV-sensitive syndrome 2
GPathogenic
ERCC8, NDUFAF2
(E13*)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 1
+3 more
GPathogenic/Likely pathogenic
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