ClinVar for MedGen (Select 767432) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2139157	NM_006218.4(PIK3CA):c.2667-20G>A	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome 5 +1 more	GConflicting classifications of pathogenicity
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 1251941	NM_006218.4(PIK3CA):c.320A>G (p.Asn107Ser)	PIK3CA (N107S)	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 +1 more	GUncertain significance
Select item 1016397	NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr)	PIK3CA (C215Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 996913	NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg)	PIK3CA (C844R)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
Select item 577897	NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile)	PIK3CA (M318I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 526641	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	PIK3CA (V146I)	Single nucleotide variant (missense variant)	Congenital macrodactylia +14 more	GUncertain significance
Select item 526637	NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)	PIK3CA (K884R)	Single nucleotide variant (missense variant)	Colorectal cancer +16 more	GUncertain significance
Select item 412650	NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome 5 +3 more	GBenign/Likely benign
Select item 412642	NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +3 more	GBenign/Likely benign
Select item 403909	NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)	PIK3CA (P377R)	Single nucleotide variant (missense variant)	Cowden syndrome +14 more	GUncertain significance
Select item 376498	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	PIK3CA (V344M)	Single nucleotide variant (missense variant)	Cowden syndrome 5 +3 more	GPathogenic
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 376050	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	PIK3CA (N345K)	Single nucleotide variant (missense variant)	Congenital macrodactylia +14 more	GPathogenic
Select item 376049	NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	PIK3CA (R88Q)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome +5 more	GPathogenic OOncogenic
Select item 259960	NM_006218.4(PIK3CA):c.318C>A (p.Gly106=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 259959	NM_006218.4(PIK3CA):c.1747-13T>C	PIK3CA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 259957	NM_006218.4(PIK3CA):c.1060-17C>A	PIK3CA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 246687	NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +2 more	GConflicting classifications of pathogenicity
Select item 246684	NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=)	PIK3CA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 246680	NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=)	PIK3CA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 223914	NM_006218.4(PIK3CA):c.1665-44C>A	PIK3CA	Single nucleotide variant (intron variant)	Cowden syndrome 5 +1 more	GBenign/Likely benign
Select item 222469	NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC]	PIK3CA (E545A +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 5	GPathogenic
Select item 220946	NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome +4 more	GBenign/Likely benign
Select item 156452	NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter)	PIK3CA (L632*)	Single nucleotide variant (nonsense)	Cowden syndrome 5	GPathogenic
Select item 156450	NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys)	PIK3CA (R382K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 156449	NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile)	PIK3CA (V356I)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic
Select item 156448	NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys)	PIK3CA (E218K)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic
Select item 156447	NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys)	PIK3CA (E135K)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic
Select item 156446	NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	PIK3CA (G118D)	Single nucleotide variant (missense variant)	Cowden syndrome +3 more	GPathogenic
Select item 135038	NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met)	PIK3CA (I391M)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more	GBenign OLikely benign FDA Recognized database
Select item 45468	NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)	PIK3CA	Single nucleotide variant (synonymous variant)	Cowden syndrome 5 +3 more	GBenign/Likely benign
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +18 more	GPathogenic
Select item 39703	NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	PIK3CA (G914R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database

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Items: 36