"OMIM"[submitter] AND "ZBTB18"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 88856	NM_205768.3(ZBTB18):c.397G>T (p.Glu133Ter)	ZBTB18 (E133* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 417741	NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter)	ZBTB18 (R186* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 225922	NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs)	ZBTB18 (R306fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22 +1 more	GPathogenic
Select item 225892	NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter)	ZBTB18 (Q395* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 208690	NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser)	ZBTB18 (N461S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 440857	NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys)	ZBTB18 (R464C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 617452	NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His)	ZBTB18 (R464H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic

ClinVar