ClinVar for MedGen (Select 1674537) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327031	NM_002645.4(PIK3C2A):c.270T>C (p.Ile90=)	PIK3C2A	Single nucleotide variant (synonymous variant +1 more)	Oculocerebrodental syndrome +2 more	GBenign
Select item 1327030	NM_002645.4(PIK3C2A):c.1239A>G (p.Ala413=)	PIK3C2A	Single nucleotide variant (synonymous variant)	Oculocerebrodental syndrome +2 more	GBenign
Select item 1327029	NM_002645.4(PIK3C2A):c.3036-37C>A	PIK3C2A	Single nucleotide variant (intron variant)	Oculocerebrodental syndrome	GBenign
Select item 1327028	NM_002645.4(PIK3C2A):c.3681+46G>A	PIK3C2A	Single nucleotide variant (intron variant)	Oculocerebrodental syndrome	GBenign
Select item 1327027	NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala)	PIK3C2A (T1035A +2 more)	Single nucleotide variant (missense variant)	Oculocerebrodental syndrome +2 more	GBenign
Select item 1327026	NM_002645.4(PIK3C2A):c.*13T>C	PIK3C2A	Single nucleotide variant (3 prime UTR variant)	Oculocerebrodental syndrome	GBenign
Select item 631522	NM_002645.3(PIK3C2A):c.(?_1-1)_4007+1_4008-1)del	PIK3C2A	Deletion	Oculocerebrodental syndrome	GPathogenic
Select item 631521	NM_001321380.2(PIK3C2A):c.-75-13528T>G	PIK3C2A (Y195*)	Single nucleotide variant (nonsense +1 more)	Oculocerebrodental syndrome	GLikely pathogenic
Select item 599543	NM_002645.4(PIK3C2A):c.1640+1G>T	PIK3C2A	Single nucleotide variant (splice donor variant)	Oculocerebrodental syndrome +1 more	GPathogenic

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