"Baylor Genetics"[submitter] AND "PRR12"[gene] - 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 446256	NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)	PRR12 (P304fs)	Duplication (frameshift variant)	Motor delay +5 more	GPathogenic
Select item 446254	NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)	PRR12 (E640*)	Single nucleotide variant (nonsense)	Autism +5 more	GPathogenic
Select item 446255	NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs)	PRR12 (L1501fs)	Deletion (frameshift variant)	Abnormality of vision +4 more	GPathogenic

Format

Sort by

Choose Destination