"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	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)	Autoinflammatory syndrome +2 more	GPathogenic
Select item 2001	NM_199242.3(UNC13D):c.753+1G>T	UNC13D	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic