"PreventionGenetics, part of Exact Sciences"[submitter] AND "PIK3C2A"[ - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1665149	NM_002645.4(PIK3C2A):c.4782A>G (p.Pro1594=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2080332	NM_002645.4(PIK3C2A):c.4269A>T (p.Arg1423=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1327027	NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala)	PIK3C2A (T1035A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1618927	NM_002645.4(PIK3C2A):c.4200T>C (p.Gly1400=)	PIK3C2A	Single nucleotide variant (synonymous variant)	PIK3C2A-related disorder +1 more	GBenign
Select item 2085369	NM_002645.4(PIK3C2A):c.4059C>T (p.Tyr1353=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1567569	NM_002645.4(PIK3C2A):c.3682-10T>G	PIK3C2A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2202031	NM_002645.4(PIK3C2A):c.3449T>C (p.Leu1150Ser)	PIK3C2A (L1150S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1593835	NM_002645.4(PIK3C2A):c.2473A>G (p.Thr825Ala)	PIK3C2A (T445A +2 more)	Single nucleotide variant (missense variant)	PIK3C2A-related disorder +1 more	GLikely benign
Select item 2043799	NM_002645.4(PIK3C2A):c.2259A>G (p.Gln753=)	PIK3C2A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2772097	NM_002645.4(PIK3C2A):c.1849-23TG[8]	PIK3C2A	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 773657	NM_002645.4(PIK3C2A):c.1757G>A (p.Ser586Asn)	PIK3C2A (S206N +1 more)	Single nucleotide variant (missense variant)	PIK3C2A-related disorder +1 more	GBenign
Select item 1327030	NM_002645.4(PIK3C2A):c.1239A>G (p.Ala413=)	PIK3C2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2038542	NM_002645.4(PIK3C2A):c.1068A>G (p.Lys356=)	PIK3C2A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 770214	NM_002645.4(PIK3C2A):c.1029A>G (p.Thr343=)	PIK3C2A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1551938	NM_002645.4(PIK3C2A):c.611C>T (p.Thr204Ile)	PIK3C2A (T204I)	Single nucleotide variant (missense variant +1 more)	PIK3C2A-related disorder +1 more	GBenign
Select item 1176564	NM_002645.4(PIK3C2A):c.399T>G (p.Phe133Leu)	PIK3C2A (F133L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2066116	NM_002645.4(PIK3C2A):c.327C>T (p.Phe109=)	PIK3C2A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1600040	NM_002645.4(PIK3C2A):c.273T>C (p.Asp91=)	PIK3C2A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1327031	NM_002645.4(PIK3C2A):c.270T>C (p.Ile90=)	PIK3C2A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2069949	NM_002645.4(PIK3C2A):c.69A>G (p.Ala23=)	PIK3C2A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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Items: 20