"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PTEN"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 492717	NC_000010.11:g.87863207G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 189522	NM_000314.4(PTEN):c.-1242G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 189433	NM_001126049.2(KLLN):c.-794_-783del	KLLN, PTEN	Deletion (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 2683786	NM_000314.8(PTEN):c.-1151C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 127661	NM_001126049.2(KLLN):c.-840G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 488755	NM_000314.8(PTEN):c.-1139A>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 183706	NM_000314.6(PTEN):c.-1027C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome +2 more	GBenign/Likely benign
Select item 187364	NM_000314.6(PTEN):c.-921G>A	LOC130004273, PTEN	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 185062	NM_000314.8(PTEN):c.-838C>T	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GUncertain significance
Select item 492718	NM_000314.8(PTEN):c.-546GGC[6]	PTEN	Microsatellite (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 492719	NM_000314.8(PTEN):c.-534_-533delinsTT	PTEN	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 301407	NM_000314.8(PTEN):c.-534G>T	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 301409	NM_000314.8(PTEN):c.-512G>A	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign
Select item 492721	NM_000314.8(PTEN):c.-500GGC[7]	PTEN	Microsatellite (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 492722	NM_000314.8(PTEN):c.-500GGC[4]	PTEN (A17del)	Microsatellite (5 prime UTR variant +1 more)	PTEN-related disorder +1 more	GLikely benign
Select item 492723	NM_000314.8(PTEN):c.-367del	PTEN (R52fs)	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 492724	NM_000314.8(PTEN):c.-290A>T	PTEN (E77V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 301420	NM_000314.8(PTEN):c.-121A>G	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome +5 more	GUncertain significance
Select item 492725	NM_000314.8(PTEN):c.-105G>T	PTEN (A139S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 450810	NM_000314.8(PTEN):c.39_40del (p.Arg14fs)	PTEN (R187fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 492726	NM_000314.8(PTEN):c.101C>T (p.Ala34Val)	PTEN (A34V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 486228	NM_000314.8(PTEN):c.127G>T (p.Glu43Ter)	PTEN (E43* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 92813	NM_000314.8(PTEN):c.132C>T (p.Gly44=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 492727	NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)	PTEN (I50T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 187590	NM_000314.8(PTEN):c.165-1G>A	PTEN	Single nucleotide variant (splice acceptor variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 492728	NM_000314.8(PTEN):c.209+7A>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely benign
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 92817	NM_000314.8(PTEN):c.254-30dup	PTEN	Duplication (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 492730	NM_000314.8(PTEN):c.287C>G (p.Pro96Arg)	PTEN (P96R +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 439289	NM_000314.8(PTEN):c.309del (p.Cys105fs)	PTEN (C105fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 418436	NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)	PTEN (L108P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate +8 more	GPathogenic OOncogenic
Select item 492731	NM_000314.8(PTEN):c.402_404del (p.Met134del)	PTEN (M134del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GPathogenic
Select item 189448	NM_000314.8(PTEN):c.491del (p.Lys164fs)	PTEN (K164fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 141485	NM_000314.8(PTEN):c.493-2A>G	PTEN	Single nucleotide variant (splice acceptor variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 189412	NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)	PTEN (Q171R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 376032	NM_000314.8(PTEN):c.518G>A (p.Arg173His)	PTEN (R173H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 220007	NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)	PTEN (Y174C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 492732	NM_000314.8(PTEN):c.528T>G (p.Tyr176Ter)	PTEN (Y176* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 492733	NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)	PTEN (R189* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome +2 more	GPathogenic
Select item 1694039	NM_000314.8(PTEN):c.587A>C (p.His196Pro)	PTEN (H196P +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 492734	NM_000314.8(PTEN):c.615G>A (p.Met205Ile)	PTEN (M205I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1694040	NM_000314.8(PTEN):c.742_753del (p.Pro248_Gly251del)	PTEN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 220416	NM_000314.8(PTEN):c.802-51_802-14del	PTEN	Deletion (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 229653	NM_000314.8(PTEN):c.802-3del	PTEN	Deletion (intron variant)	PTEN hamartoma tumor syndrome +4 more	GBenign/Likely benign
Select item 3379978	NM_000314.8(PTEN):c.817_818delinsCC (p.Phe273Pro)	PTEN (F273P +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1474758	NM_000314.8(PTEN):c.848C>G (p.Pro283Arg)	PTEN (P283R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GUncertain significance
Select item 484617	NM_000314.8(PTEN):c.881G>A (p.Ser294Asn)	PTEN (S294N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127693	NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)	PTEN (S294R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 71118	NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)	PTEN	Microsatellite (nonsense)	Cowden syndrome 1 +6 more	GPathogenic OOncogenic
Select item 143020	NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)	PTEN (P354Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 492735	NM_000314.8(PTEN):c.*78T>G	PTEN	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign

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Items: 52