ClinVar for Gene (Select 5290) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238639	NM_006218.4(PIK3CA):c.1358_1361delinsG (p.Glu453_Asp454delinsGly)	PIK3CA	Indel (inframe_indel)	PIK3CA related overgrowth syndrome	GLikely pathogenic
Select item 3233414	NM_006218.4(PIK3CA):c.323_337del (p.Arg108_Ile112del)	PIK3CA	Deletion (inframe_deletion)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 3233413	NM_006218.4(PIK3CA):c.3196_3203del (p.Ala1066fs)	PIK3CA (A1066fs)	Deletion (frameshift variant)	Arteriovenous malformation	GLikely pathogenic
Select item 3225383	NM_006218.4(PIK3CA):c.965C>G (p.Thr322Arg)	PIK3CA (T322R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225382	NM_006218.4(PIK3CA):c.84T>C (p.Asn28=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225381	NM_006218.4(PIK3CA):c.840G>A (p.Gly280=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225380	NM_006218.4(PIK3CA):c.834G>A (p.Met278Ile)	PIK3CA (M278I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225379	NM_006218.4(PIK3CA):c.809A>G (p.Tyr270Cys)	PIK3CA (Y270C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225378	NM_006218.4(PIK3CA):c.807G>A (p.Gln269=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225377	NM_006218.4(PIK3CA):c.700C>T (p.Leu234=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225376	NM_006218.4(PIK3CA):c.69A>C (p.Glu23Asp)	PIK3CA (E23D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225375	NM_006218.4(PIK3CA):c.688C>G (p.Arg230Gly)	PIK3CA (R230G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225374	NM_006218.4(PIK3CA):c.673A>G (p.Ile225Val)	PIK3CA (I225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225373	NM_006218.4(PIK3CA):c.666T>G (p.Ala222=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225372	NM_006218.4(PIK3CA):c.666T>A (p.Ala222=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225371	NM_006218.4(PIK3CA):c.63A>G (p.Leu21=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225370	NM_006218.4(PIK3CA):c.465C>A (p.Asp155Glu)	PIK3CA (D155E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225369	NM_006218.4(PIK3CA):c.408A>G (p.Val136=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225368	NM_006218.4(PIK3CA):c.375G>A (p.Val125=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225367	NM_006218.4(PIK3CA):c.360T>C (p.Ala120=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225366	NM_006218.4(PIK3CA):c.3115T>A (p.Phe1039Ile)	PIK3CA (F1039I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225365	NM_006218.4(PIK3CA):c.3057T>C (p.Ile1019=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225364	NM_006218.4(PIK3CA):c.2970T>C (p.Ala990=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225363	NM_006218.4(PIK3CA):c.2862T>C (p.Phe954=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225361	NM_006218.4(PIK3CA):c.2722A>G (p.Thr908Ala)	PIK3CA (T908A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225360	NM_006218.4(PIK3CA):c.2721T>C (p.Ala907=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225359	NM_006218.4(PIK3CA):c.2691T>C (p.Phe897=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225358	NM_006218.4(PIK3CA):c.2680A>G (p.Ile894Val)	PIK3CA (I894V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225357	NM_006218.4(PIK3CA):c.2608C>T (p.Leu870=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225356	NM_006218.4(PIK3CA):c.2529C>T (p.Asp843=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225355	NM_006218.4(PIK3CA):c.2373G>A (p.Glu791=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225354	NM_006218.4(PIK3CA):c.2356C>A (p.Pro786Thr)	PIK3CA (P786T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225353	NM_006218.4(PIK3CA):c.2351A>G (p.Glu784Gly)	PIK3CA (E784G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225352	NM_006218.4(PIK3CA):c.2250C>T (p.Gly750=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225351	NM_006218.4(PIK3CA):c.2214A>C (p.Gln738His)	PIK3CA (Q738H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225350	NM_006218.4(PIK3CA):c.2125A>G (p.Met709Val)	PIK3CA (M709V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225349	NM_006218.4(PIK3CA):c.201T>C (p.Ser67=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225348	NM_006218.4(PIK3CA):c.1998T>C (p.Phe666=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225347	NM_006218.4(PIK3CA):c.1953A>C (p.Arg651Ser)	PIK3CA (R651S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225346	NM_006218.4(PIK3CA):c.1952G>C (p.Arg651Thr)	PIK3CA (R651T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225345	NM_006218.4(PIK3CA):c.1944G>A (p.Leu648=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225344	NM_006218.4(PIK3CA):c.1902G>A (p.Gln634=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225343	NM_006218.4(PIK3CA):c.1860A>T (p.Glu620Asp)	PIK3CA (E620D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225342	NM_006218.4(PIK3CA):c.1854C>T (p.Cys618=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225341	NM_006218.4(PIK3CA):c.1838G>T (p.Gly613Val)	PIK3CA (G613V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225340	NM_006218.4(PIK3CA):c.1806G>A (p.Leu602=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225339	NM_006218.4(PIK3CA):c.1784C>T (p.Pro595Leu)	PIK3CA (P595L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225338	NM_006218.4(PIK3CA):c.1771C>A (p.Pro591Thr)	PIK3CA (P591T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225337	NM_006218.4(PIK3CA):c.1756T>C (p.Leu586=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225336	NM_006218.4(PIK3CA):c.1716T>A (p.Val572=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225335	NM_006218.4(PIK3CA):c.1682T>C (p.Ile561Thr)	PIK3CA (I561T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225334	NM_006218.4(PIK3CA):c.1663A>C (p.Arg555=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225333	NM_006218.4(PIK3CA):c.1662C>G (p.His554Gln)	PIK3CA (H554Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225332	NM_006218.4(PIK3CA):c.1560C>T (p.Asp520=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225331	NM_006218.4(PIK3CA):c.1488C>A (p.Ala496=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225330	NM_006218.4(PIK3CA):c.1425G>A (p.Leu475=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225328	NM_006218.4(PIK3CA):c.1260T>G (p.Cys420Trp)	PIK3CA (C420W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225327	NM_006218.4(PIK3CA):c.1222T>A (p.Ser408Thr)	PIK3CA (S408T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225326	NM_006218.4(PIK3CA):c.1154A>C (p.Glu385Ala)	PIK3CA (E385A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225325	NM_006218.4(PIK3CA):c.1084C>T (p.His362Tyr)	PIK3CA (H362Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225324	NM_006218.4(PIK3CA):c.1060A>G (p.Ile354Val)	PIK3CA (I354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225323	NM_006218.4(PIK3CA):c.105A>G (p.Glu35=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225322	NM_006218.4(PIK3CA):c.1043T>G (p.Ile348Ser)	PIK3CA (I348S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3225321	NM_006218.4(PIK3CA):c.1040A>T (p.Asn347Ile)	PIK3CA (N347I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212949	NM_006218.4(PIK3CA):c.2364C>G (p.Ile788Met)	PIK3CA (I788M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065356	NM_006218.4(PIK3CA):c.813+2T>C	PIK3CA	Single nucleotide variant (splice donor variant)	CLOVES syndrome	GLikely pathogenic
Select item 3062685	GRCh37/hg19 3q26.32(chr3:178540352-178991786)x1	KCNMB2, KCNMB3 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3061242	NM_006218.4(PIK3CA):c.592G>A (p.Val198Ile)	PIK3CA (V198I)	Single nucleotide variant (missense variant)	PIK3CA-related disorder	GUncertain significance
Select item 3044076	NM_006218.4(PIK3CA):c.*27A>G	PIK3CA	Single nucleotide variant (3 prime UTR variant)	PIK3CA-related disorder	GLikely benign
Select item 3031392	NM_006218.4(PIK3CA):c.1997T>G (p.Phe666Cys)	PIK3CA (F666C)	Single nucleotide variant (missense variant)	PIK3CA-related disorder	GUncertain significance
Select item 3029825	NM_006218.4(PIK3CA):c.1256A>G (p.His419Arg)	PIK3CA (H419R)	Single nucleotide variant (missense variant)	PIK3CA-related disorder	GUncertain significance
Select item 3026295	NM_006218.4(PIK3CA):c.3091A>G (p.Thr1031Ala)	PIK3CA (T1031A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3015525	NM_006218.4(PIK3CA):c.2275C>T (p.His759Tyr)	PIK3CA (H759Y)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 3002110	NM_006218.4(PIK3CA):c.1146-3T>C	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GUncertain significance
Select item 2989072	NM_006218.4(PIK3CA):c.2417-18A>G	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2979959	NM_006218.4(PIK3CA):c.1146-17T>C	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2972391	NM_006218.4(PIK3CA):c.2015+18C>T	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2918876	NM_006218.4(PIK3CA):c.621T>C (p.Tyr207=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome	GLikely benign
Select item 2912565	NM_006218.4(PIK3CA):c.2295-9A>G	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2901917	NM_006218.4(PIK3CA):c.618G>A (p.Lys206=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	GLikely benign
Select item 2882581	NM_006218.4(PIK3CA):c.1880A>G (p.Lys627Arg)	PIK3CA (K627R)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 2882149	NM_006218.4(PIK3CA):c.2287A>G (p.Asn763Asp)	PIK3CA (N763D)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 2880437	NM_006218.4(PIK3CA):c.134T>C (p.Ile45Thr)	PIK3CA (I45T)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 2874294	NM_006218.4(PIK3CA):c.352+6A>G	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GUncertain significance
Select item 2870745	NM_006218.4(PIK3CA):c.1251+1G>C	PIK3CA	Single nucleotide variant (splice donor variant)	Cowden syndrome	GUncertain significance
Select item 2862274	NM_006218.4(PIK3CA):c.451G>A (p.Val151Met)	PIK3CA (V151M)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 2857439	NM_006218.4(PIK3CA):c.2181A>C (p.Thr727=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome	GLikely benign
Select item 2857164	NM_006218.4(PIK3CA):c.2987A>G (p.Asn996Ser)	PIK3CA (N996S)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 2855412	NM_006218.4(PIK3CA):c.676A>C (p.Arg226=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome	GLikely benign
Select item 2853272	NM_006218.4(PIK3CA):c.2188G>A (p.Val730Ile)	PIK3CA (V730I)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 2852997	NM_006218.4(PIK3CA):c.2496-10C>T	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2851940	NM_006218.4(PIK3CA):c.2188-8T>C	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2846867	NM_006218.4(PIK3CA):c.1960C>T (p.Leu654=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome	GLikely benign
Select item 2844664	NM_006218.4(PIK3CA):c.1145+13A>G	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2836513	NM_006218.4(PIK3CA):c.586G>T (p.Val196Leu)	PIK3CA (V196L)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 2830882	NM_006218.4(PIK3CA):c.2667-11A>G	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2811556	NM_006218.4(PIK3CA):c.2144_2148del (p.Asn714_Leu715insTer)	PIK3CA	Microsatellite (nonsense)	Cowden syndrome	GUncertain significance
Select item 2809109	NM_006218.4(PIK3CA):c.1567T>C (p.Leu523=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome	GLikely benign
Select item 2784928	NM_006218.4(PIK3CA):c.353-17A>G	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign
Select item 2783475	NM_006218.4(PIK3CA):c.1060-8T>G	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome	GLikely benign

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