"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344720	NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp)	ACTL6B (G417W)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 1344715	NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg)	ACTL6B (G393R)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 1344717	NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter)	ACTL6B (R298*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GPathogenic
Select item 1344718	NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro)	ACTL6B (T175P)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 1344719	NM_016188.5(ACTL6B):c.465del (p.Ala156fs)	ACTL6B (A156fs)	Deletion (frameshift variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 1344716	NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe)	ACTL6B (L154F)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GPathogenic

ClinVar