"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 1331651	NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter)	SIN3A (R718*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation +1 more	GConflicting classifications of pathogenicity
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 997817	Single allele	CIMAP1C, COMMD4 +8 more	Deletion	Epilepsy +1 more	GPathogenic

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