List of variants in gene PIK3C2A reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001321380.2(PIK3C2A):c.-75-13528T>G	rs1565287817
NM_002645.3(PIK3C2A):c.(?_1-1)_4007+1_4008-1)del
NM_002645.4(PIK3C2A):c.1640+1G>T	rs1565272952

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