U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLL3, LOC130064417
(L142Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DLL3, LOC130064417
(C178*)
Single nucleotide variant
(nonsense)
Spondylocostal dysostosis 1, autosomal recessive
GLikely pathogenic