"Section for Clinical Neurogenetics, University of Tübingen"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 993275	NC_000017.11:g.60921178_61232194del	BCAS3, BCAS3-AS1	Deletion	Global developmental delay	GLikely pathogenic
Select item 993270	NM_017679.5(BCAS3):c.1655C>T (p.Pro552Leu)	BCAS3, BCAS3-AS1 (P552L +3 more)	Single nucleotide variant (missense variant)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 993271	NM_017679.5(BCAS3):c.1684G>A (p.Gly562Arg)	BCAS3, BCAS3-AS1 (G562R +3 more)	Single nucleotide variant (missense variant)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 993276	NM_017679.5(BCAS3):c.2029+4_2029+7del	BCAS3, BCAS3-AS1	Deletion (splice donor variant)	Global developmental delay	GLikely pathogenic
Select item 993272	NM_017679.5(BCAS3):c.2182C>T (p.Gln728Ter)	BCAS3, BCAS3-AS1 (Q728* +3 more)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 993277	NM_017679.5(BCAS3):c.2425G>C (p.Gly809Arg)	BCAS3, BCAS3-AS1 (G809R +3 more)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic

ClinVar