"Institute of Medical Genetics and Applied Genomics, University Hospit - 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 987128	NM_021120.4(DLG3):c.840+1G>A	DLG3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987145	NM_021120.4(DLG3):c.1369del (p.Gln457fs)	DLG3, DLG3-AS1 (Q120fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 816966	NM_021120.4(DLG3):c.2035C>T (p.Arg679Ter)	DLG3 (R679* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination