"GeneDx"[submitter] AND "CAMSAP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 1706471	NM_015447.4(CAMSAP1):c.4193C>G (p.Ser1398Ter)	CAMSAP1 (S1120* +1 more)	Single nucleotide variant (nonsense)	CAMSAP1-related neuronal migration disorder +1 more	GPathogenic/Likely pathogenic
Select item 2581779	NM_015447.4(CAMSAP1):c.3587G>T (p.Ser1196Ile)	CAMSAP1 (S1196I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706469	NM_015447.4(CAMSAP1):c.2638C>T (p.Gln880Ter)	CAMSAP1 (Q602* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2581889	NM_015447.4(CAMSAP1):c.884A>C (p.Glu295Ala)	CAMSAP1 (E17A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

ClinVar