"Institute of Human Genetics, University of Leipzig Medical Center"[su - 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 1999	NM_199242.3(UNC13D):c.1389+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GPathogenic
Select item 2001	NM_199242.3(UNC13D):c.753+1G>T	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic