U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ERCC2
Deletion
(splice donor variant)
Trichothiodystrophy 1, photosensitive
+4 more
GPathogenic/Likely pathogenic
ERCC2
(R156C +1 more)
Indel
(missense variant)
not provided
GUncertain significance
Format
Sort by
Choose Destination