"GeneDx"[submitter] AND "LOC129998550"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 144933	GRCh38/hg38 7q11.22(chr7:69588764-69765039)x1	AUTS2, CT66 +10 more	Copy number loss	See cases	GPathogenic
Select item 2412924	NM_015570.4(AUTS2):c.96_119del (p.Ala34_Gly41del)	LOC129998550, AUTS2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1314638	NM_015570.4(AUTS2):c.105CGG[5] (p.Gly39dup)	AUTS2, LOC129998550	Microsatellite (inframe_insertion)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 385922	NM_015570.4(AUTS2):c.118G>A (p.Ala40Thr)	LOC129998550, AUTS2 (A40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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