5290[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	ACTL6A, GNB4 +51 more	Copy number gain	See cases	GLikely benign
Select item 802024	NM_006218.4(PIK3CA):c.-138C>T	PIK3CA	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1	GLikely benign
Select item 223910	NM_006218.4(PIK3CA):c.-77+196G>A	PIK3CA	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1279589	NM_006218.4(PIK3CA):c.-76-203G>T	PIK3CA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223913	NM_006218.4(PIK3CA):c.-76-138A>T	PIK3CA	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1189906	NM_006218.4(PIK3CA):c.-76-34C>G	PIK3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181592	NM_006218.4(PIK3CA):c.-76-19T>C	PIK3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 417323	NC_000003.11:g.(?_178916538)_(178952500_?)dup	PIK3CA	Duplication	Cowden syndrome	GUncertain significance
Select item 844646	NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)	PIK3CA (M1V)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-capillary malformation-polymicrogyria syndrome +2 more	GUncertain significance
Select item 1806008	NM_006218.4(PIK3CA):c.2T>C (p.Met1Thr)	PIK3CA (M1T)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 5	GUncertain significance
Select item 2397767	NM_006218.4(PIK3CA):c.4C>T (p.Pro2Ser)	PIK3CA (P2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756636	NM_006218.4(PIK3CA):c.6T>G (p.Pro2=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1311835	NM_006218.4(PIK3CA):c.11G>C (p.Arg4Pro)	PIK3CA (R4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1557037	NM_006218.4(PIK3CA):c.15A>G (p.Pro5=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1787577	NM_006218.4(PIK3CA):c.21A>G (p.Ser7=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1787574	NM_006218.4(PIK3CA):c.21A>C (p.Ser7=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 569404	NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs)	PIK3CA (L10fs)	Deletion (frameshift variant)	Cowden syndrome	GUncertain significance
Select item 2500565	NM_006218.4(PIK3CA):c.29T>C (p.Leu10Pro)	PIK3CA (L10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140920	NM_006218.4(PIK3CA):c.30G>A (p.Leu10=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1691323	NM_006218.4(PIK3CA):c.32_52del (p.Trp11_Pro18delinsSer)	PIK3CA	Deletion (inframe_indel)	not provided	GLikely pathogenic
Select item 1470592	NM_006218.4(PIK3CA):c.37A>G (p.Ile13Val)	PIK3CA (I13V)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 650566	NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr)	PIK3CA (H14Y)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 1739536	NM_006218.4(PIK3CA):c.42C>T (p.His14=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	GLikely benign
Select item 1739523	NM_006218.4(PIK3CA):c.42C>G (p.His14Gln)	PIK3CA (H14Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1741046	NM_006218.4(PIK3CA):c.44T>G (p.Leu15Trp)	PIK3CA (L15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1741804	NM_006218.4(PIK3CA):c.45G>C (p.Leu15Phe)	PIK3CA (L15F)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
Select item 1746013	NM_006218.4(PIK3CA):c.51C>G (p.Pro17=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1746011	NM_006218.4(PIK3CA):c.51C>A (p.Pro17=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2567737	NM_006218.4(PIK3CA):c.52C>T (p.Pro18Ser)	PIK3CA (P18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1747930	NM_006218.4(PIK3CA):c.54A>C (p.Pro18=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	GLikely benign
Select item 2567734	NM_006218.4(PIK3CA):c.60C>A (p.Ile20=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2724084	NM_006218.4(PIK3CA):c.61C>A (p.Leu21Ile)	PIK3CA (L21I)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 1127005	NM_006218.4(PIK3CA):c.61C>T (p.Leu21=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	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 1754968	NM_006218.4(PIK3CA):c.66A>G (p.Val22=)	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 1756548	NM_006218.4(PIK3CA):c.69A>G (p.Glu23=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1761107	NM_006218.4(PIK3CA):c.78A>G (p.Leu26=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1762407	NM_006218.4(PIK3CA):c.81A>G (p.Pro27=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 860562	NM_006218.4(PIK3CA):c.91A>C (p.Ile31Leu)	PIK3CA (I31L)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
Select item 1296992	NM_006218.4(PIK3CA):c.93A>G (p.Ile31Met)	PIK3CA (I31M)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GUncertain significance FDA Recognized database
Select item 2567730	NM_006218.4(PIK3CA):c.96G>T (p.Val32=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1767907	NM_006218.4(PIK3CA):c.96G>C (p.Val32=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1768548	NM_006218.4(PIK3CA):c.98C>T (p.Thr33Ile)	PIK3CA (T33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768903	NM_006218.4(PIK3CA):c.99T>C (p.Thr33=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1386000	NM_006218.4(PIK3CA):c.103G>C (p.Glu35Gln)	PIK3CA (E35Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 376493	NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)	PIK3CA (R38C)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
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 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 1757763	NM_006218.4(PIK3CA):c.123A>C (p.Thr41=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 864664	NM_006218.4(PIK3CA):c.139C>T (p.His47Tyr)	PIK3CA (H47Y)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 403906	NM_006218.4(PIK3CA):c.140A>G (p.His47Arg)	PIK3CA (H47R)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
Select item 456528	NM_006218.4(PIK3CA):c.141T>G (p.His47Gln)	PIK3CA (H47Q)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 1631741	NM_006218.4(PIK3CA):c.147A>G (p.Leu49=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome	GLikely benign
Select item 425316	NM_006218.4(PIK3CA):c.148T>C (p.Phe50Leu)	PIK3CA (F50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1774583	NM_006218.4(PIK3CA):c.152A>G (p.Lys51Arg)	PIK3CA (K51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 456530	NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln)	PIK3CA (E52Q)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 1776779	NM_006218.4(PIK3CA):c.162A>G (p.Arg54=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 526644	NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +2 more	GLikely benign
Select item 1622037	NM_006218.4(PIK3CA):c.171C>T (p.Pro57=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	GLikely benign
Select item 1095283	NM_006218.4(PIK3CA):c.171C>G (p.Pro57=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	GLikely benign
Select item 1335549	NM_006218.4(PIK3CA):c.174C>T (p.Leu58=)	PIK3CA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 935567	NM_006218.4(PIK3CA):c.175C>T (p.His59Tyr)	PIK3CA (H59Y)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 936841	NM_006218.4(PIK3CA):c.176A>C (p.His59Pro)	PIK3CA (H59P)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 526635	NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)	PIK3CA (Q60K)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1780320	NM_006218.4(PIK3CA):c.179A>C (p.Gln60Pro)	PIK3CA (Q60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567722	NM_006218.4(PIK3CA):c.180A>G (p.Gln60=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1780737	NM_006218.4(PIK3CA):c.181C>T (p.Leu61Phe)	PIK3CA (L61F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1516099	NM_006218.4(PIK3CA):c.181C>A (p.Leu61Ile)	PIK3CA (L61I)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 1781142	NM_006218.4(PIK3CA):c.183T>A (p.Leu61=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1781675	NM_006218.4(PIK3CA):c.186T>G (p.Leu62=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1781673	NM_006218.4(PIK3CA):c.186T>C (p.Leu62=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2624922	NM_006218.4(PIK3CA):c.189A>G (p.Gln63=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	GLikely benign
Select item 1404089	NM_006218.4(PIK3CA):c.189A>C (p.Gln63His)	PIK3CA (Q63H)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
Select item 1783381	NM_006218.4(PIK3CA):c.195A>T (p.Glu65Asp)	PIK3CA (E65D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 706493	NM_006218.4(PIK3CA):c.198T>C (p.Ser66=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	GLikely benign
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 2755470	NM_006218.4(PIK3CA):c.201T>G (p.Ser67=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome	GLikely benign
Select item 456535	NM_006218.4(PIK3CA):c.210C>T (p.Phe70=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +1 more	GLikely benign
Select item 456536	NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile)	PIK3CA (V71I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 246683	NM_006218.4(PIK3CA):c.213A>G (p.Val71=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 567407	NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly)	PIK3CA (S72G)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance

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