"OMIM"[submitter] AND "HIVEP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224793	NM_006734.4(HIVEP2):c.6475G>T (p.Gly2159Ter)	HIVEP2 (G2159*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 236210	NM_006734.4(HIVEP2):c.5737del (p.Asp1913fs)	HIVEP2 (D1913fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 224795	NM_006734.4(HIVEP2):c.5614dup (p.Glu1872fs)	HIVEP2 (E1872fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 236212	NM_006734.4(HIVEP2):c.3556C>T (p.Gln1186Ter)	HIVEP2 (Q1186*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 224794	NM_006734.4(HIVEP2):c.2857G>T (p.Glu953Ter)	HIVEP2 (E953*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 224791	NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)	HIVEP2 (R943*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43 +1 more	GPathogenic

ClinVar