PTEN[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17058901.	NM_000314.8(PTEN):c.-326= GRCh37: Chr10:89623901 GRCh38: Chr10:87864144	PTEN	S65C	Myeloproliferative neoplasm, unclassifiable	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 12643242.	NM_000314.8(PTEN):c.-136G>C GRCh37: Chr10:89624091 GRCh38: Chr10:87864334	PTEN	Q128H	Hamartomatous polyposis	Pathogenic	no assertion criteria provided
Select item 5621443.	NM_000314.8(PTEN):c.-116dup GRCh37: Chr10:89624110-89624111 GRCh38: Chr10:87864353-87864354	PTEN	G136fs	Autism spectrum disorder	Likely pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 5621454.	NM_000314.8(PTEN):c.-60dup GRCh37: Chr10:89624163-89624164 GRCh38: Chr10:87864406-87864407	PTEN	R154fs	Autism spectrum disorder	Likely pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 4846005.	NM_000314.8(PTEN):c.1A>G (p.Met1Val) GRCh37: Chr10:89624227 GRCh38: Chr10:87864470	PTEN	M1V, M174V	PTEN hamartoma tumor syndrome	Pathogenic (Nov 22, 2019)	reviewed by expert panel FDA Recognized Database
Select item 16861066.	NM_000314.8(PTEN):c.2T>C (p.Met1Thr) GRCh37: Chr10:89624228 GRCh38: Chr10:87864471	PTEN	M174T, M1T	Cowden syndrome 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 13340957.	NM_000314.8(PTEN):c.3_27del (p.Met1fs) GRCh37: Chr10:89624228-89624252 GRCh38: Chr10:87864471-87864495	PTEN	M174fs, M1fs	Cowden syndrome 1	Likely pathogenic (Feb 12, 2021)	criteria provided, single submitter
Select item 14579548.	NM_000314.8(PTEN):c.3G>A (p.Met1Ile) GRCh37: Chr10:89624229 GRCh38: Chr10:87864472	PTEN	M1I, M174I	PTEN hamartoma tumor syndrome	Pathogenic (Jun 29, 2021)	criteria provided, single submitter
Select item 13300309.	NM_000314.8(PTEN):c.13_14insC (p.Ile5fs) GRCh37: Chr10:89624239-89624240 GRCh38: Chr10:87864482-87864483	PTEN	I178fs, I5fs	not provided	Likely pathogenic (Nov 19, 2020)	criteria provided, single submitter
Select item 107357710.	NM_000314.8(PTEN):c.17_20dup (p.Ile8fs) GRCh37: Chr10:89624241-89624242 GRCh38: Chr10:87864484-87864485	PTEN	I181fs, I8fs	PTEN hamartoma tumor syndrome	Pathogenic (Sep 18, 2020)	criteria provided, single submitter
Select item 48038311.	NM_000314.8(PTEN):c.18dup (p.Glu7fs) GRCh37: Chr10:89624241-89624242 GRCh38: Chr10:87864484-87864485	PTEN	E180fs, E7fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 25, 2016)	criteria provided, single submitter
Select item 64439012.	NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) GRCh37: Chr10:89624242 GRCh38: Chr10:87864485	PTEN	K6E, K179E	PTEN hamartoma tumor syndrome	Pathogenic (Jun 4, 2021)	reviewed by expert panel FDA Recognized Database
Select item 23164913.	NM_000314.8(PTEN):c.17_18del (p.Lys6fs) GRCh37: Chr10:89624242-89624243 GRCh38: Chr10:87864485-87864486	PTEN	K179fs, K6fs	PTEN hamartoma tumor syndrome, not provided, Hereditary cancer-predisposing syndrome	Pathogenic (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18942914.	NM_000314.8(PTEN):c.21_22del (p.Glu7fs) GRCh37: Chr10:89624244-89624245 GRCh38: Chr10:87864487-87864488	PTEN	E180fs, E7fs	Hereditary cancer-predisposing syndrome, not provided, PTEN hamartoma tumor syndrome	Pathogenic (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49307915.	NM_000314.8(PTEN):c.19G>T (p.Glu7Ter) GRCh37: Chr10:89624245 GRCh38: Chr10:87864488	PTEN	E7, E180	not provided	Likely pathogenic (Aug 1, 2017)	criteria provided, single submitter
Select item 18943016.	NM_000314.8(PTEN):c.21_37del (p.Ile8fs) GRCh37: Chr10:89624246-89624262 GRCh38: Chr10:87864489-87864505	PTEN	I181fs, I8fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 19, 2014)	criteria provided, single submitter
Select item 172879017.	NM_000314.8(PTEN):c.31del (p.Arg11fs) GRCh37: Chr10:89624257 GRCh38: Chr10:87864500	PTEN	R184fs, R11fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 13, 2020)	criteria provided, single submitter
Select item 94444518.	NM_000314.8(PTEN):c.35A>T (p.Asn12Ile) GRCh37: Chr10:89624261 GRCh38: Chr10:87864504	PTEN	N185I, N12I	PTEN hamartoma tumor syndrome	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 42758619.	NM_000314.8(PTEN):c.35A>C (p.Asn12Thr) GRCh37: Chr10:89624261 GRCh38: Chr10:87864504	PTEN	N12T, N185T	PTEN hamartoma tumor syndrome	Pathogenic (Mar 1, 2017)	criteria provided, single submitter
Select item 145159320.	NM_000314.8(PTEN):c.39_51del (p.Arg15fs) GRCh37: Chr10:89624262-89624274 GRCh38: Chr10:87864505-87864517	PTEN	R15fs, R188fs	PTEN hamartoma tumor syndrome	Pathogenic (Nov 19, 2021)	criteria provided, single submitter
Select item 142345421.	NM_000314.8(PTEN):c.39_40dup (p.Arg14fs) GRCh37: Chr10:89624262-89624263 GRCh38: Chr10:87864505-87864506	PTEN	R14fs, R187fs	PTEN hamartoma tumor syndrome	Pathogenic (Jun 16, 2021)	criteria provided, single submitter
Select item 783422.	NM_000314.8(PTEN):c.40dup (p.Arg14fs) GRCh37: Chr10:89624262-89624263 GRCh38: Chr10:87864505-87864506	PTEN	R14fs, R187fs	PTEN hamartoma tumor syndrome	Pathogenic (Apr 6, 2018)	reviewed by expert panel FDA Recognized Database
Select item 173783523.	NM_000314.8(PTEN):c.40del (p.Arg14fs) GRCh37: Chr10:89624263 GRCh38: Chr10:87864506	PTEN	R14fs, R187fs	Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145816624.	NM_000314.8(PTEN):c.38_51del (p.Lys13fs) GRCh37: Chr10:89624263-89624276 GRCh38: Chr10:87864506-87864519	PTEN	K13fs, K186fs	PTEN hamartoma tumor syndrome	Pathogenic (Mar 31, 2021)	criteria provided, single submitter
Select item 98800425.	NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) GRCh37: Chr10:89624263 GRCh38: Chr10:87864506	PTEN	K13E, K186E	Cowden syndrome, PTEN hamartoma tumor syndrome	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 84655026.	NM_000314.8(PTEN):c.37A>C (p.Lys13Gln) GRCh37: Chr10:89624263 GRCh38: Chr10:87864506	PTEN	K13Q, K186Q	PTEN hamartoma tumor syndrome	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 46868227.	NM_000314.8(PTEN):c.37A>T (p.Lys13Ter) GRCh37: Chr10:89624263 GRCh38: Chr10:87864506	PTEN	K13, K186	Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome	Pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45081028.	NM_000314.8(PTEN):c.39_40del (p.Arg14fs) GRCh37: Chr10:89624263-89624264 GRCh38: Chr10:87864506-87864507	PTEN	R187fs, R14fs	Hereditary cancer-predisposing syndrome, not provided, Cowden syndrome 1	Pathogenic/Likely pathogenic (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174032929.	NM_000314.8(PTEN):c.44_56del (p.Arg15fs) GRCh37: Chr10:89624266-89624278 GRCh38: Chr10:87864509-87864521	PTEN	R15fs, R188fs	Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome	Pathogenic (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42758930.	NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) GRCh37: Chr10:89624266 GRCh38: Chr10:87864509	PTEN	R14G, R187G	PTEN hamartoma tumor syndrome, Cowden syndrome 1	Pathogenic/Likely pathogenic (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 39329831.	NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs) GRCh37: Chr10:89624267-89624268 GRCh38: Chr10:87864510-87864511	PTEN	Y16fs, Y189fs	Macrocephaly-autism syndrome	Pathogenic (Mar 6, 2017)	no assertion criteria provided
Select item 18621932.	NM_000314.8(PTEN):c.42del (p.Arg15fs) GRCh37: Chr10:89624267 GRCh38: Chr10:87864510	PTEN	R188fs, R15fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 25, 2014)	criteria provided, single submitter
Select item 121548833.	NM_000314.8(PTEN):c.44_45del (p.Arg15fs) GRCh37: Chr10:89624268-89624269 GRCh38: Chr10:87864511-87864512	PTEN	R15fs, R188fs	not provided	Pathogenic (Jun 29, 2021)	criteria provided, single submitter
Select item 142266234.	NM_000314.8(PTEN):c.43A>T (p.Arg15Ter) GRCh37: Chr10:89624269 GRCh38: Chr10:87864512	PTEN	R15, R188	PTEN hamartoma tumor syndrome	Pathogenic (Oct 24, 2021)	criteria provided, single submitter
Select item 63471435.	NM_000314.8(PTEN):c.44dup (p.Tyr16fs) GRCh37: Chr10:89624269-89624270 GRCh38: Chr10:87864512-87864513	PTEN	Y16fs, Y189fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 40414736.	NM_000314.8(PTEN):c.44G>A (p.Arg15Lys) GRCh37: Chr10:89624270 GRCh38: Chr10:87864513	PTEN	R15K, R188K	PTEN hamartoma tumor syndrome	Likely pathogenic (Mar 23, 2020)	reviewed by expert panel FDA Recognized Database
Select item 42819437.	NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) GRCh37: Chr10:89624271 GRCh38: Chr10:87864514	PTEN	R15S, R188S	Hereditary cancer-predisposing syndrome, not provided, PTEN hamartoma tumor syndrome	Pathogenic/Likely pathogenic (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41976938.	NM_000314.8(PTEN):c.45A>T (p.Arg15Ser) GRCh37: Chr10:89624271 GRCh38: Chr10:87864514	PTEN	R15S, R188S	PTEN hamartoma tumor syndrome, not provided	Pathogenic/Likely pathogenic (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18943139.	NM_000314.8(PTEN):c.46dup (p.Tyr16fs) GRCh37: Chr10:89624271-89624272 GRCh38: Chr10:87864514-87864515	PTEN	Y16fs, Y189fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 1, 2016)	criteria provided, multiple submitters, no conflicts
Select item 107082840.	NM_000314.8(PTEN):c.49_61dup (p.Phe21fs) GRCh37: Chr10:89624272-89624273 GRCh38: Chr10:87864515-87864516	PTEN	F194fs, F21fs	PTEN hamartoma tumor syndrome	Pathogenic (Oct 2, 2020)	criteria provided, single submitter
Select item 42289941.	NM_000314.8(PTEN):c.46T>G (p.Tyr16Asp) GRCh37: Chr10:89624272 GRCh38: Chr10:87864515	PTEN	Y16D, Y189D	not provided	Likely pathogenic (Dec 23, 2016)	criteria provided, single submitter
Select item 23440942.	NM_000314.8(PTEN):c.47dup (p.Tyr16Ter) GRCh37: Chr10:89624272-89624273 GRCh38: Chr10:87864515-87864516	PTEN	Y189, Y16	not provided	Pathogenic (Jan 11, 2018)	criteria provided, single submitter
Select item 174319243.	NM_000314.8(PTEN):c.48_49delinsAT (p.Tyr16_Gln17delinsTer) GRCh37: Chr10:89624274-89624275 GRCh38: Chr10:87864517-87864518	PTEN	Y16*	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 30, 2018)	criteria provided, single submitter
Select item 53655644.	NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) GRCh37: Chr10:89624274 GRCh38: Chr10:87864517	PTEN	Y16, Y189	Hereditary cancer-predisposing syndrome, Familial meningioma, PTEN hamartoma tumor syndrome, Cowden syndrome 1	Pathogenic (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14202745.	NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) GRCh37: Chr10:89624274 GRCh38: Chr10:87864517	PTEN	Y16, Y189	Hereditary cancer-predisposing syndrome, not provided, PTEN hamartoma tumor syndrome	Pathogenic (Feb 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18945846.	NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) GRCh37: Chr10:89624275 GRCh38: Chr10:87864518	PTEN	Q17, Q190	Hereditary cancer-predisposing syndrome, not specified, PTEN hamartoma tumor syndrome	Pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14165447.	NM_000314.8(PTEN):c.50_51del (p.Gln17fs) GRCh37: Chr10:89624276-89624277 GRCh38: Chr10:87864519-87864520	PTEN	Q190fs, Q17fs	PTEN hamartoma tumor syndrome	Pathogenic (Oct 18, 2017)	reviewed by expert panel FDA Recognized Database
Select item 23764848.	NM_000314.8(PTEN):c.53del (p.Glu18fs) GRCh37: Chr10:89624279 GRCh38: Chr10:87864522	PTEN	E18fs, E191fs	Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 200173349.	NM_000314.8(PTEN):c.56A>T (p.Asp19Val) GRCh37: Chr10:89624282 GRCh38: Chr10:87864525	PTEN	D19V, D192V	PTEN hamartoma tumor syndrome	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 145972450.	NM_000314.8(PTEN):c.60dup (p.Phe21fs) GRCh37: Chr10:89624285-89624286 GRCh38: Chr10:87864528-87864529	PTEN	F21fs, F194fs	PTEN hamartoma tumor syndrome	Pathogenic (Jun 17, 2021)	criteria provided, single submitter
Select item 93758951.	NM_000314.8(PTEN):c.64dup (p.Asp22fs) GRCh37: Chr10:89624289-89624290 GRCh38: Chr10:87864532-87864533	PTEN	D22fs, D195fs	PTEN hamartoma tumor syndrome	Pathogenic (Oct 3, 2019)	criteria provided, single submitter
Select item 175607052.	NM_000314.8(PTEN):c.69_74del (p.22DL[1]) GRCh37: Chr10:89624290-89624295 GRCh38: Chr10:87864533-87864538	PTEN		Hereditary cancer-predisposing syndrome	Likely pathogenic (Dec 19, 2019)	criteria provided, single submitter
Select item 46870853.	NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer) GRCh37: Chr10:89624293 GRCh38: Chr10:87864536	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 23483054.	NM_000314.8(PTEN):c.67T>G (p.Leu23Val) GRCh37: Chr10:89624293 GRCh38: Chr10:87864536	PTEN	L23V, L196V	PTEN hamartoma tumor syndrome	Likely pathogenic (Jun 18, 2020)	reviewed by expert panel FDA Recognized Database
Select item 82669755.	NM_000314.8(PTEN):c.68T>G (p.Leu23Ter) GRCh37: Chr10:89624294 GRCh38: Chr10:87864537	PTEN	L196, L23	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 3, 2019)	criteria provided, single submitter
Select item 64235856.	NM_000314.8(PTEN):c.69dup (p.Asp24fs) GRCh37: Chr10:89624294-89624295 GRCh38: Chr10:87864537-87864538	PTEN	D197fs, D24fs	not provided, PTEN hamartoma tumor syndrome	Pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54593157.	NM_000314.8(PTEN):c.70del (p.Asp24fs) GRCh37: Chr10:89624296 GRCh38: Chr10:87864539	PTEN	D197fs, D24fs	not provided	Pathogenic (Jul 16, 2021)	criteria provided, single submitter
Select item 18939858.	NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) GRCh37: Chr10:89624296 GRCh38: Chr10:87864539	PTEN	D24Y, D197Y	not provided	Pathogenic (Jul 13, 2016)	criteria provided, single submitter
Select item 18520059.	NM_000314.8(PTEN):c.70G>A (p.Asp24Asn) GRCh37: Chr10:89624296 GRCh38: Chr10:87864539	PTEN	D24N, D197N	Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151139260.	NM_000314.8(PTEN):c.71A>T (p.Asp24Val) GRCh37: Chr10:89624297 GRCh38: Chr10:87864540	PTEN	D24V, D197V	PTEN hamartoma tumor syndrome	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 20872361.	NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) GRCh37: Chr10:89624297 GRCh38: Chr10:87864540	PTEN	D24G, D197G	Hereditary cancer-predisposing syndrome, not provided, PTEN hamartoma tumor syndrome	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42823062.	NM_000314.8(PTEN):c.74dup (p.Leu25fs) GRCh37: Chr10:89624298-89624299 GRCh38: Chr10:87864541-87864542	PTEN	L25fs, L198fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 14, 2013)	criteria provided, single submitter
Select item 106821463.	NM_000314.8(PTEN):c.75G>C (p.Leu25Phe) GRCh37: Chr10:89624301 GRCh38: Chr10:87864544	PTEN	L198F, L25F	PTEN hamartoma tumor syndrome	Pathogenic (Oct 23, 2022)	criteria provided, single submitter
Select item 23441064.	NM_000314.8(PTEN):c.76A>C (p.Thr26Pro) GRCh37: Chr10:89624302 GRCh38: Chr10:87864545	PTEN	T26P, T199P	PTEN hamartoma tumor syndrome, not provided	Pathogenic (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94906865.	NM_000314.8(PTEN):c.77C>A (p.Thr26Asn) GRCh37: Chr10:89624303 GRCh38: Chr10:87864546	PTEN	T199N, T26N	PTEN hamartoma tumor syndrome	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 18939966.	NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) GRCh37: Chr10:89624303 GRCh38: Chr10:87864546	PTEN	T26I, T199I	Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome, See cases	Pathogenic/Likely pathogenic (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210663067.	NM_000314.8(PTEN):c.79+1G>A GRCh37: Chr10:89624306 GRCh38: Chr10:87864549	PTEN		PTEN hamartoma tumor syndrome	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 150721868.	NM_000314.8(PTEN):c.79+1G>C GRCh37: Chr10:89624306 GRCh38: Chr10:87864549	PTEN		PTEN hamartoma tumor syndrome	Likely pathogenic (Nov 8, 2021)	criteria provided, single submitter
Select item 66503969.	NC_000010.11:g.(?_87894015)_(87965482_?)del GRCh37: Chr10:89653772-89725239 GRCh38: Chr10:87894015-87965482	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 58432670.	NC_000010.11:g.(?_87894015)_(87894119_?)del GRCh37: Chr10:89653772-89653876 GRCh38: Chr10:87894015-87894119	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 82741971.	NM_000314.8(PTEN):c.80-5_82del GRCh37: Chr10:89653775-89653782 GRCh38: Chr10:87894018-87894025	PTEN		Hereditary cancer-predisposing syndrome	Likely pathogenic (Jul 3, 2019)	criteria provided, single submitter
Select item 106660572.	NM_000314.8(PTEN):c.80-2A>C GRCh37: Chr10:89653780 GRCh38: Chr10:87894023	PTEN		Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome	Likely pathogenic (Feb 5, 2020)	criteria provided, multiple submitters, no conflicts
Select item 18946273.	NM_000314.8(PTEN):c.80-1G>C GRCh37: Chr10:89653781 GRCh38: Chr10:87894024	PTEN		PTEN hamartoma tumor syndrome	Likely pathogenic (Mar 23, 2020)	reviewed by expert panel FDA Recognized Database
Select item 41732674.	NC_000010.11:g.(?_87894025)_(87894109_?)del GRCh37: Chr10:89653782-89653866 GRCh38: Chr10:87894025-87894109	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Sep 20, 2016)	criteria provided, single submitter
Select item 40416075.	NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) GRCh37: Chr10:89653782 GRCh38: Chr10:87894025	PTEN	Y27C, Y200C	PTEN hamartoma tumor syndrome	Likely pathogenic (Nov 22, 2019)	reviewed by expert panel FDA Recognized Database
Select item 18710776.	NM_000314.8(PTEN):c.81_82insCT (p.Ile28fs) GRCh37: Chr10:89653782-89653783 GRCh38: Chr10:87894025-87894026	PTEN	I28fs, I201fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 18944277.	NM_000314.8(PTEN):c.85_88del (p.Tyr29fs) GRCh37: Chr10:89653787-89653790 GRCh38: Chr10:87894030-87894033	PTEN	Y29fs, Y202fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 17, 2014)	criteria provided, single submitter
Select item 53654578.	NM_000314.8(PTEN):c.87T>A (p.Tyr29Ter) GRCh37: Chr10:89653789 GRCh38: Chr10:87894032	PTEN	Y29, Y202	PTEN hamartoma tumor syndrome	Pathogenic (Oct 23, 2017)	criteria provided, single submitter
Select item 56818779.	NM_000314.8(PTEN):c.92del (p.Asn31fs) GRCh37: Chr10:89653792 GRCh38: Chr10:87894035	PTEN	N204fs, N31fs	PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44908880.	NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) GRCh37: Chr10:89653799-89653801 GRCh38: Chr10:87894039-87894041	PTEN	I33del, I206del	PTEN hamartoma tumor syndrome	Likely pathogenic (Mar 5, 2019)	reviewed by expert panel FDA Recognized Database
Select item 22974981.	NM_000314.8(PTEN):c.97_98del (p.Ile33fs) GRCh37: Chr10:89653798-89653799 GRCh38: Chr10:87894041-87894042	PTEN	I206fs, I33fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 24, 2014)	criteria provided, single submitter
Select item 169236682.	NM_000314.8(PTEN):c.103dup (p.Met35fs) GRCh37: Chr10:89653804-89653805 GRCh38: Chr10:87894047-87894048	PTEN	M208fs, M35fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Apr 30, 2021)	criteria provided, single submitter
Select item 63479083.	NM_000314.8(PTEN):c.102del (p.Met35fs) GRCh37: Chr10:89653804 GRCh38: Chr10:87894047	PTEN	M35fs, M208fs	Neoplasm of ovary	Pathogenic (Dec 1, 2018)	no assertion criteria provided
Select item 97672284.	NM_000314.8(PTEN):c.103A>C (p.Met35Leu) GRCh37: Chr10:89653805 GRCh38: Chr10:87894048	PTEN	M208L, M35L	Cowden syndrome 1	Likely pathogenic (May 19, 2020)	criteria provided, single submitter
Select item 23191685.	NM_000314.8(PTEN):c.103A>G (p.Met35Val) GRCh37: Chr10:89653805 GRCh38: Chr10:87894048	PTEN	M35V, M208V	PTEN hamartoma tumor syndrome	Likely pathogenic (Mar 23, 2020)	reviewed by expert panel FDA Recognized Database
Select item 42824486.	NM_000314.8(PTEN):c.104T>C (p.Met35Thr) GRCh37: Chr10:89653806 GRCh38: Chr10:87894049	PTEN	M35T, M208T	Hereditary cancer-predisposing syndrome	Likely pathogenic (Mar 6, 2020)	criteria provided, single submitter
Select item 782587.	NM_000314.8(PTEN):c.104T>G (p.Met35Arg) GRCh37: Chr10:89653806 GRCh38: Chr10:87894049	PTEN	M35R, M208R	PTEN hamartoma tumor syndrome	Pathogenic (Jul 25, 2018)	reviewed by expert panel FDA Recognized Database
Select item 18586388.	NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg) GRCh37: Chr10:89653807-89653808 GRCh38: Chr10:87894050-87894051	PTEN		Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Jan 27, 2020)	criteria provided, multiple submitters, no conflicts
Select item 145674989.	NM_000314.8(PTEN):c.106G>T (p.Gly36Ter) GRCh37: Chr10:89653808 GRCh38: Chr10:87894051	PTEN	G209, G36	PTEN hamartoma tumor syndrome	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 107657890.	NM_000314.8(PTEN):c.106_109del (p.Gly36fs) GRCh37: Chr10:89653808-89653811 GRCh38: Chr10:87894051-87894054	PTEN	G209fs, G36fs	PTEN hamartoma tumor syndrome	Pathogenic (Jul 25, 2020)	criteria provided, single submitter
Select item 143304191.	NM_000314.8(PTEN):c.111dup (p.Pro38fs) GRCh37: Chr10:89653810-89653811 GRCh38: Chr10:87894053-87894054	PTEN	P211fs, P38fs	PTEN hamartoma tumor syndrome	Pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 42821192.	NM_000314.8(PTEN):c.110_111del (p.Phe37fs) GRCh37: Chr10:89653811-89653812 GRCh38: Chr10:87894054-87894055	PTEN	F210fs, F37fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 20, 2015)	criteria provided, single submitter
Select item 42426293.	NM_000314.8(PTEN):c.113C>G (p.Pro38Arg) GRCh37: Chr10:89653815 GRCh38: Chr10:87894058	PTEN	P38R, P211R	not provided	Pathogenic (May 3, 2019)	criteria provided, single submitter
Select item 18944394.	NM_000314.8(PTEN):c.117del (p.Glu40fs) GRCh37: Chr10:89653819 GRCh38: Chr10:87894062	PTEN	E213fs, E40fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 4, 2013)	criteria provided, single submitter
Select item 22454595.	NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) GRCh37: Chr10:89653820 GRCh38: Chr10:87894063	PTEN	E40, E213	Cowden syndrome	Pathogenic (Nov 20, 2015)	criteria provided, single submitter
Select item 48207796.	NM_000314.8(PTEN):c.127dup (p.Glu43fs) GRCh37: Chr10:89653828-89653829 GRCh38: Chr10:87894071-87894072	PTEN	E216fs, E43fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 9, 2016)	criteria provided, single submitter
Select item 48622897.	NM_000314.8(PTEN):c.127G>T (p.Glu43Ter) GRCh37: Chr10:89653829 GRCh38: Chr10:87894072	PTEN	E43, E216	PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Dec 27, 2017)	criteria provided, multiple submitters, no conflicts
Select item 57485598.	NM_000314.8(PTEN):c.131dup (p.Val45fs) GRCh37: Chr10:89653831-89653832 GRCh38: Chr10:87894074-87894075	PTEN	V218fs, V45fs	PTEN hamartoma tumor syndrome	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 18636999.	NM_000314.8(PTEN):c.131_134dup (p.Tyr46fs) GRCh37: Chr10:89653832-89653833 GRCh38: Chr10:87894075-87894076	PTEN	Y46fs, Y219fs	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 14, 2014)	criteria provided, single submitter
Select item 427582100.	NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) GRCh37: Chr10:89653833 GRCh38: Chr10:87894076	PTEN	G44D, G217D	not provided, PTEN hamartoma tumor syndrome	Pathogenic (Jun 1, 2019)	criteria provided, multiple submitters, no conflicts

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