"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418433	NM_000314.8(PTEN):c.-15C>T	PTEN (H169Y)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 492308	NM_000314.8(PTEN):c.-14A>C	PTEN (H169P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 421428	NM_000314.8(PTEN):c.-7C>T	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 215732	NM_000314.8(PTEN):c.48T>C (p.Tyr16=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GLikely benign
Select item 468697	NM_000314.8(PTEN):c.54G>A (p.Glu18=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 7837	NM_000314.8(PTEN):c.55G>A (p.Asp19Asn)	PTEN (D19N +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 184205	NM_000314.8(PTEN):c.66C>T (p.Asp22=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GLikely benign
Select item 468710	NM_000314.8(PTEN):c.72C>T (p.Asp24=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 184505	NM_000314.8(PTEN):c.75G>A (p.Leu25=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 184104	NM_000314.8(PTEN):c.78C>T (p.Thr26=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 492346	NM_000314.8(PTEN):c.80-14A>T	PTEN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3071692	NM_000314.8(PTEN):c.96T>G (p.Ile32Met)	PTEN (I205M +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2132892	NM_000314.8(PTEN):c.96T>C (p.Ile32=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 184068	NM_000314.8(PTEN):c.114T>G (p.Pro38=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 759715	NM_000314.8(PTEN):c.132C>A (p.Gly44=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 481024	NM_000314.8(PTEN):c.144C>T (p.Asn48=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 480377	NM_000314.8(PTEN):c.146A>G (p.Asn49Ser)	PTEN (N49S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 2880317	NM_000314.8(PTEN):c.153T>C (p.Asp51=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 482075	NM_000314.8(PTEN):c.180G>A (p.Lys60=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 2774178	NM_000314.8(PTEN):c.194_195insT (p.Lys66fs)	PTEN (K239fs +1 more)	Insertion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GPathogenic
Select item 3069948	NM_000314.8(PTEN):c.196A>C (p.Lys66Gln)	PTEN (K239Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 189476	NM_000314.8(PTEN):c.206A>G (p.Asn69Ser)	PTEN (N69S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1785916	NM_000314.8(PTEN):c.210-12C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome +1 more	GLikely pathogenic
Select item 379793	NM_000314.8(PTEN):c.210-9T>C	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 468675	NM_000314.8(PTEN):c.212G>T (p.Cys71Phe)	PTEN (C71F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3075547	NM_000314.8(PTEN):c.230A>G (p.Asp77Gly)	PTEN (D250G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 404155	NM_000314.8(PTEN):c.235G>T (p.Ala79Ser)	PTEN (A79S +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 3072451	NM_000314.8(PTEN):c.254-13C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 419882	NM_000314.8(PTEN):c.254-3_254-2del	PTEN	Microsatellite (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135909	NM_000314.8(PTEN):c.258A>G (p.Ala86=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 482070	NM_000314.8(PTEN):c.288A>G (p.Pro96=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GBenign/Likely benign
Select item 184413	NM_000314.8(PTEN):c.321T>C (p.Asp107=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GBenign/Likely benign
Select item 185102	NM_000314.8(PTEN):c.330A>G (p.Gln110=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 849802	NM_000314.8(PTEN):c.348C>A (p.Asp116Glu)	PTEN (D116E +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 185588	NM_000314.8(PTEN):c.349A>C (p.Asn117His)	PTEN (N117H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 216421	NM_000314.8(PTEN):c.350A>G (p.Asn117Ser)	PTEN (N117S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 186161	NM_000314.8(PTEN):c.364A>G (p.Ile122Val)	PTEN (I122V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 186082	NM_000314.8(PTEN):c.411A>G (p.Ala137=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 486230	NM_000314.8(PTEN):c.413A>G (p.Tyr138Cys)	PTEN (Y138C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 378918	NM_000314.8(PTEN):c.417A>G (p.Leu139=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 237646	NM_000314.8(PTEN):c.425G>A (p.Arg142Gln)	PTEN (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 490113	NM_000314.8(PTEN):c.440A>G (p.Lys147Arg)	PTEN (K147R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 233741	NM_000314.8(PTEN):c.447A>G (p.Gln149=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 185952	NM_000314.8(PTEN):c.456A>G (p.Leu152=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 186180	NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)	PTEN (K163R +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome +6 more	GUncertain significance
Select item 3071050	NM_000314.8(PTEN):c.491A>T (p.Lys164Met)	PTEN (K164M +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 421963	NM_000314.8(PTEN):c.492G>A (p.Lys164=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 492332	NM_000314.8(PTEN):c.493-7C>T	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 591816	NM_000314.8(PTEN):c.505C>G (p.Pro169Ala)	PTEN (P169A +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 189411	NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)	PTEN (Q171* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 185585	NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys)	PTEN (Y176C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 231805	NM_000314.8(PTEN):c.534T>C (p.Tyr178=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GLikely benign
Select item 2567271	NM_000314.8(PTEN):c.537C>T (p.Ser179=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 439291	NM_000314.8(PTEN):c.548dup (p.Asn184fs)	PTEN (N357fs +1 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 404173	NM_000314.8(PTEN):c.571G>T (p.Val191Leu)	PTEN (V191L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 3074642	NM_000314.8(PTEN):c.575C>G (p.Ala192Gly)	PTEN (A192G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 481156	NM_000314.8(PTEN):c.577C>T (p.Leu193=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 135911	NM_000314.8(PTEN):c.579G>A (p.Leu193=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 468700	NM_000314.8(PTEN):c.585T>C (p.Phe195=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 629479	NM_000314.8(PTEN):c.595A>G (p.Met199Val)	PTEN (M199V +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 928678	NM_000314.8(PTEN):c.606T>C (p.Thr202=)	PTEN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 578650	NM_000314.8(PTEN):c.607A>G (p.Ile203Val)	PTEN (I203V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 404146	NM_000314.8(PTEN):c.613A>G (p.Met205Val)	PTEN (M205V +2 more)	Single nucleotide variant (missense variant)	Cowden syndrome 1 +4 more	GUncertain significance
Select item 480381	NM_000314.8(PTEN):c.614T>C (p.Met205Thr)	PTEN (M205T +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 186205	NM_000314.8(PTEN):c.618C>T (p.Phe206=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 490114	NM_000314.8(PTEN):c.625G>A (p.Gly209Arg)	PTEN (G209R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3072410	NM_000314.8(PTEN):c.649G>C (p.Val217Leu)	PTEN (V20L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 3070345	NM_000314.8(PTEN):c.672A>T (p.Ile224=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 3074232	NM_000314.8(PTEN):c.687_688insACGAAT (p.Ser229_Gly230insThrAsn)	PTEN	Insertion (inframe_insertion)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 7813	NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	PTEN (R233* +2 more)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 492337	NM_000314.8(PTEN):c.700C>G (p.Arg234Gly)	PTEN (R234G +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 3075548	NM_000314.8(PTEN):c.701G>T (p.Arg234Leu)	PTEN (R234L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 7840	NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)	PTEN (R234Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 3070715	NM_000314.8(PTEN):c.713T>C (p.Phe238Ser)	PTEN (F238S +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1757614	NM_000314.8(PTEN):c.719A>G (p.Tyr240Cys)	PTEN (Y413C +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 183876	NM_000314.8(PTEN):c.720C>T (p.Tyr240=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 3070126	NM_000314.8(PTEN):c.731C>T (p.Pro244Leu)	PTEN (P244L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 215734	NM_000314.8(PTEN):c.738G>A (p.Pro246=)	PTEN	Single nucleotide variant (synonymous variant)	Cowden syndrome 1 +4 more	GBenign/Likely benign
Select item 184913	NM_000314.8(PTEN):c.750T>C (p.Cys250=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 412807	NM_000314.8(PTEN):c.759C>T (p.Ile253=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 230707	NM_000314.8(PTEN):c.780A>G (p.Lys260=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 928467	NM_000314.8(PTEN):c.802-13T>C	PTEN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 138838	NM_000314.8(PTEN):c.802-12T>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome +3 more	GBenign/Likely benign
Select item 135912	NM_000314.8(PTEN):c.802-3T>A	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 468719	NM_000314.8(PTEN):c.838A>G (p.Ile280Val)	PTEN (I280V +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 184466	NM_000314.8(PTEN):c.841C>G (p.Pro281Ala)	PTEN (P281A +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 183799	NM_000314.8(PTEN):c.855A>G (p.Glu285=)	PTEN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 233492	NM_000314.8(PTEN):c.858C>G (p.Thr286=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 484603	NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)	PTEN (E288K +2 more)	Single nucleotide variant (missense variant)	Familial meningioma +7 more	GUncertain significance
Select item 135913	NM_000314.8(PTEN):c.885A>G (p.Leu295=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +3 more	GLikely benign
Select item 127695	NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	PTEN (Q298E +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 184295	NM_000314.8(PTEN):c.900C>T (p.Ile300=)	PTEN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 486226	NM_000314.8(PTEN):c.905G>A (p.Ser302Asn)	PTEN (S302N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 237655	NM_000314.8(PTEN):c.909T>A (p.Ile303=)	PTEN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 127696	NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)	PTEN (S305N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 185517	NM_000314.8(PTEN):c.919G>C (p.Glu307Gln)	PTEN (E307Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 420367	NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)	PTEN (R308C +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 2104965	NM_000314.8(PTEN):c.923G>T (p.Arg308Leu)	PTEN (R111L +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 184506	NM_000314.8(PTEN):c.923G>A (p.Arg308His)	PTEN (R308H +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 484628	NM_000314.8(PTEN):c.948A>G (p.Leu316=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +1 more	GLikely benign

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