C1855663[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 817523	NM_130466.4(UBE3B):c.730C>T (p.Gln244Ter)	UBE3B (Q244*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type +1 more	GLikely pathogenic
Select item 3233333	NM_130466.4(UBE3B):c.1924C>T (p.Gln642Ter)	UBE3B (Q642*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic