Related gene-specific medical variations for Gene (Select 5290) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065356	NM_006218.4(PIK3CA):c.813+2T>C	PIK3CA	Single nucleotide variant (splice donor variant)	CLOVES syndrome	GLikely pathogenic
Select item 2672088	NM_006218.4(PIK3CA):c.1632_1633delinsAA (p.Glu545Lys)	PIK3CA (E545K)	Indel (missense variant)	PIK3CA related overgrowth syndrome	GPathogenic
Select item 2654288	NM_006218.4(PIK3CA):c.*5681C>G	KCNMB3, PIK3CA (R158T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2582621	NM_006218.4(PIK3CA):c.287A>G (p.Gln96Arg)	PIK3CA (Q96R)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 4	GUncertain significance
Select item 2571196	NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)	PIK3CA	Deletion (inframe_deletion)	PIK3CA related overgrowth syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2441860	NM_006218.4(PIK3CA):c.1873G>A (p.Asp625Asn)	PIK3CA (D625N)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GUncertain significance
Select item 1034256	NM_006218.4(PIK3CA):c.1610G>A (p.Arg537Gln)	PIK3CA (R537Q)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GUncertain significance
Select item 995383	NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn)	PIK3CA (D91N)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome	GPathogenic
Select item 995381	NM_006218.4(PIK3CA):c.2727C>A (p.Phe909Leu)	PIK3CA (F909L)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome	GPathogenic
Select item 809569	NM_006218.4(PIK3CA):c.3172A>C (p.Ile1058Leu)	PIK3CA (I1058L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495324	NM_006218.4(PIK3CA):c.3074C>G (p.Thr1025Ser)	PIK3CA (T1025S)	Single nucleotide variant (missense variant)	Endometrial carcinoma	GLikely pathogenic
Select item 446487	NM_006218.4(PIK3CA):c.1658_1659delinsC (p.Ser553fs)	PIK3CA (S553fs)	Indel (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 376499	NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala)	PIK3CA (V344A)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +7 more	GLikely pathogenic
Select item 376497	NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)	PIK3CA (V344G)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 376496	NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)	PIK3CA (R38G)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376495	NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu)	PIK3CA (R38L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376494	NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser)	PIK3CA (R38S)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376492	NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)	PIK3CA (R38H)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely pathogenic
Select item 376491	NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)	PIK3CA (Q546H)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +12 more	GLikely pathogenic
Select item 376490	NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)	PIK3CA (N345H)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +9 more	GLikely pathogenic
Select item 376488	NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)	PIK3CA (N345I)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +9 more	GLikely pathogenic
Select item 376487	NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)	PIK3CA (M1043L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376486	NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)	PIK3CA (M1043T)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376485	NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)	PIK3CA (M1043V)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +10 more	GLikely pathogenic
Select item 376484	NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)	PIK3CA (K111R)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376482	NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	PIK3CA (K111E)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic
Select item 376481	NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)	PIK3CA (H1047Q)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +21 more	GLikely pathogenic
Select item 376480	NM_006218.4(PIK3CA):c.316G>C (p.Gly106Arg)	PIK3CA (G106R)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +5 more	GLikely pathogenic
Select item 376477	NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala)	PIK3CA (E726A)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +7 more	GLikely pathogenic
Select item 376474	NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)	PIK3CA (E542V)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +15 more	GLikely pathogenic
Select item 376473	NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)	PIK3CA (E542A)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma, sporadic +16 more	GPathogenic/Likely pathogenic
Select item 376472	NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)	PIK3CA (E453D)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376471	NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)	PIK3CA (E453Q)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376469	NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly)	PIK3CA (C420G)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 376359	NM_006218.4(PIK3CA):c.1412C>T (p.Pro471Leu)	PIK3CA (P471L)	Single nucleotide variant (missense variant)	Trabecular adenocarcinoma	Gnot provided
Select item 376245	NM_006218.4(PIK3CA):c.1635G>C (p.Glu545Asp)	PIK3CA (E545D)	Single nucleotide variant (missense variant)	Breast neoplasm	GLikely pathogenic
Select item 376244	NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)	PIK3CA (E542Q)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma, sporadic +17 more	GPathogenic/Likely pathogenic
Select item 376053	NM_006218.4(PIK3CA):c.3145G>C (p.Gly1049Arg)	PIK3CA (G1049R)	Single nucleotide variant (missense variant)	Malignant tumor of floor of mouth	GLikely pathogenic
Select item 376052	NM_006218.4(PIK3CA):c.2102A>C (p.His701Pro)	PIK3CA (H701P)	Single nucleotide variant (missense variant)	Breast neoplasm	GLikely pathogenic
Select item 376051	NM_006218.4(PIK3CA):c.1035T>G (p.Asn345Lys)	PIK3CA (N345K)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +1 more	GLikely pathogenic
Select item 375900	NM_006218.4(PIK3CA):c.1645G>A (p.Asp549Asn)	PIK3CA (D549N)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +1 more	GPathogenic
Select item 375899	NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)	PIK3CA (Q546L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +12 more	GPathogenic/Likely pathogenic
Select item 375898	NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)	PIK3CA (Q546P)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +13 more	GPathogenic/Likely pathogenic
Select item 375897	NM_006218.4(PIK3CA):c.1634A>T (p.Glu545Val)	PIK3CA (E545V)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +1 more	GPathogenic
Select item 135037	NM_006218.4(PIK3CA):c.1876G>A (p.Asp626Asn)	PIK3CA (D626N)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135036	NM_006218.4(PIK3CA):c.1837G>A (p.Gly613Ser)	PIK3CA (G613S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 132966	NM_006218.2:c.1821+51A>T	PIK3CA	Single nucleotide variant	Sarcoma	Gnot provided
Select item 132965	NM_006218.4(PIK3CA):c.1769G>A (p.Trp590Ter)	PIK3CA (W590*)	Single nucleotide variant (nonsense)	Familial cancer of breast	Gnot provided
Select item 132955	NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys)	PIK3CA (R555K)	Single nucleotide variant (missense variant)	Familial cancer of breast	Gnot provided
Select item 132954	NM_006218.4(PIK3CA):c.1571G>A (p.Arg524Lys)	PIK3CA (R524K)	Single nucleotide variant (missense variant)	Familial cancer of breast	Gnot provided
Select item 132953	NM_006218.4(PIK3CA):c.1540-56C>T	PIK3CA	Single nucleotide variant (intron variant)	Endometrial carcinoma	Gnot provided

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Links from Gene

Items: 51