"GeneDx"[submitter] AND "CAMTA2"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 391986	NM_015099.4(CAMTA2):c.1765+1G>A	CAMTA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1270598	NM_015099.4(CAMTA2):c.799G>C (p.Ala267Pro)	CAMTA2 (A266P +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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