ClinVar for MedGen (Select 368366) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25783361.	NM_000314.8(PTEN):c.634+3_634+7delinsTCTCATCCTTGAATTT GRCh37: Chr10:89712019-89712023 GRCh38: Chr10:87952262-87952266	PTEN		PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome, Cowden syndrome, Proteus-like syndrome, Bannayan-Riley-Ruvalcaba syndrome	not provided	no assertion provided
Select item 25051082.	NM_000314.8(PTEN):c.924_928dup (p.Asp310fs) GRCh37: Chr10:89720771-89720772 GRCh38: Chr10:87961014-87961015	PTEN	D113fs, D310fs, D483fs	PTEN hamartoma tumor syndrome	not provided	no assertion provided
Select item 24472213.	NM_000314.8(PTEN):c.332G>A (p.Trp111Ter) GRCh37: Chr10:89692848 GRCh38: Chr10:87933091	PTEN	W284, W111	PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Nov 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24293514.	NM_000314.8(PTEN):c.200T>G (p.Ile67Arg) GRCh37: Chr10:89685305 GRCh38: Chr10:87925548	PTEN	I240R, I67R	PTEN hamartoma tumor syndrome	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 24228665.	NC_000010.10:g.(?_89514444)_(90537999_?)del GRCh37: Chr10:89514444-90537999	LIPF, ATAD1, KLLN, LIPJ, LIPK, LIPN, PTEN, RNLS		PTEN hamartoma tumor syndrome	Pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 24228656.	NC_000010.10:g.(?_88428449)_(89725229_?)del GRCh37: Chr10:88428449-89725229	ADIRF, ADIRF-AS1, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, LDB3, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG		PTEN hamartoma tumor syndrome	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 24228647.	NC_000010.10:g.(?_89621800)_(89725321_?)del GRCh37: Chr10:89621800-89725321	KLLN, PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Sep 24, 2021)	criteria provided, single submitter
Select item 24228638.	NC_000010.10:g.(?_89621946)_(89623527_?)dup GRCh37: Chr10:89621946-89623527	KLLN, PTEN		PTEN hamartoma tumor syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 24228629.	NC_000010.10:g.(?_89621800)_(89685324_?)del GRCh37: Chr10:89621800-89685324	KLLN, PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Nov 15, 2021)	criteria provided, single submitter
Select item 242286110.	NC_000010.10:g.(?_89725034)_(89725321_?)del GRCh37: Chr10:89725034-89725321	PTEN		PTEN hamartoma tumor syndrome	Likely pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 242286011.	NC_000010.10:g.(?_89717600)_(89717786_?)del GRCh37: Chr10:89717600-89717786	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Oct 23, 2021)	criteria provided, single submitter
Select item 241610612.	NM_000314.8(PTEN):c.635-20G>T GRCh37: Chr10:89717590 GRCh38: Chr10:87957833	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 220017013.	NM_000314.8(PTEN):c.635-12T>G GRCh37: Chr10:89717598 GRCh38: Chr10:87957841	PTEN		PTEN hamartoma tumor syndrome	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 215998214.	NM_000314.8(PTEN):c.549G>A (p.Lys183=) GRCh37: Chr10:89711931 GRCh38: Chr10:87952174	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 215467015.	NM_000314.8(PTEN):c.802-8_802-7insC GRCh37: Chr10:89720643-89720644 GRCh38: Chr10:87960886-87960887	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Aug 14, 2022)	criteria provided, single submitter
Select item 214584916.	NM_000314.8(PTEN):c.415T>A (p.Leu139Ile) GRCh37: Chr10:89692931 GRCh38: Chr10:87933174	PTEN	L312I, L139I	PTEN hamartoma tumor syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 213870517.	NM_000314.8(PTEN):c.209+15T>A GRCh37: Chr10:89685329 GRCh38: Chr10:87925572	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 213691118.	NM_000314.8(PTEN):c.853G>T (p.Glu285Ter) GRCh37: Chr10:89720702 GRCh38: Chr10:87960945	PTEN	E285, E458, E88*	PTEN hamartoma tumor syndrome	Pathogenic (Jun 26, 2022)	criteria provided, single submitter
Select item 213691019.	NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter) GRCh37: Chr10:89711922 GRCh38: Chr10:87952165	PTEN	Y180, Y353	PTEN hamartoma tumor syndrome	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 213690820.	NM_000314.8(PTEN):c.209+1G>C GRCh37: Chr10:89685315 GRCh38: Chr10:87925558	PTEN		Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome	Pathogenic (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213690721.	NM_000314.8(PTEN):c.157G>A (p.Val53Ile) GRCh37: Chr10:89653859 GRCh38: Chr10:87894102	PTEN	V226I, V53I	PTEN hamartoma tumor syndrome	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 213289222.	NM_000314.8(PTEN):c.96T>C (p.Ile32=) GRCh37: Chr10:89653798 GRCh38: Chr10:87894041	PTEN		PTEN hamartoma tumor syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213225623.	NM_000314.8(PTEN):c.286C>A (p.Pro96Thr) GRCh37: Chr10:89692802 GRCh38: Chr10:87933045	PTEN	P96T, P269T	PTEN hamartoma tumor syndrome	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 213225524.	NM_000314.8(PTEN):c.210-7_220del GRCh37: Chr10:89690796-89690813 GRCh38: Chr10:87931039-87931056	PTEN		PTEN hamartoma tumor syndrome	Likely pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 213100325.	NM_000314.8(PTEN):c.822_823del (p.Trp274fs) GRCh37: Chr10:89720670-89720671 GRCh38: Chr10:87960913-87960914	PTEN	W274fs, W77fs, W447fs	PTEN hamartoma tumor syndrome	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 213100226.	NM_000314.8(PTEN):c.688G>T (p.Gly230Ter) GRCh37: Chr10:89717663 GRCh38: Chr10:87957906	PTEN	G230, G33, G403*	PTEN hamartoma tumor syndrome	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 212682627.	NM_000314.8(PTEN):c.254-9_254-8del GRCh37: Chr10:89692758-89692759 GRCh38: Chr10:87933001-87933002	PTEN		PTEN hamartoma tumor syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 212629328.	NM_000314.8(PTEN):c.206A>T (p.Asn69Ile) GRCh37: Chr10:89685311 GRCh38: Chr10:87925554	PTEN	N242I, N69I	PTEN hamartoma tumor syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212614729.	NM_000314.8(PTEN):c.1183G>T (p.Asp395Tyr) GRCh37: Chr10:89725200 GRCh38: Chr10:87965443	PTEN	D198Y, D395Y, D568Y	PTEN hamartoma tumor syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212305930.	NM_000314.8(PTEN):c.122G>A (p.Arg41Lys) GRCh37: Chr10:89653824 GRCh38: Chr10:87894067	PTEN	R214K, R41K	PTEN hamartoma tumor syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212202131.	NM_000314.8(PTEN):c.802-5_802-4insC GRCh37: Chr10:89720646-89720647 GRCh38: Chr10:87960889-87960890	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211923532.	NM_000314.8(PTEN):c.801+11_801+16del GRCh37: Chr10:89717785-89717790 GRCh38: Chr10:87958028-87958033	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211866333.	NM_000314.8(PTEN):c.220A>G (p.Arg74Gly) GRCh37: Chr10:89690813 GRCh38: Chr10:87931056	PTEN	R74G, R247G	PTEN hamartoma tumor syndrome	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211828034.	NM_000314.8(PTEN):c.554A>G (p.His185Arg) GRCh37: Chr10:89711936 GRCh38: Chr10:87952179	PTEN	H358R, H185R	PTEN hamartoma tumor syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 211370435.	NM_000314.8(PTEN):c.156_164+4delinsCAT GRCh37: Chr10:89653858-89653870 GRCh38: Chr10:87894101-87894113	PTEN		PTEN hamartoma tumor syndrome	Likely pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 211054236.	NM_000314.8(PTEN):c.404dup (p.Cys136fs) GRCh37: Chr10:89692919-89692920 GRCh38: Chr10:87933162-87933163	PTEN	C136fs, C309fs	PTEN hamartoma tumor syndrome	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 210991637.	NM_000314.8(PTEN):c.1007A>G (p.Tyr336Cys) GRCh37: Chr10:89720856 GRCh38: Chr10:87961099	PTEN	Y139C, Y336C, Y509C	PTEN hamartoma tumor syndrome	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210900438.	NM_000314.8(PTEN):c.209+6T>A GRCh37: Chr10:89685320 GRCh38: Chr10:87925563	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 210663039.	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 210529240.	NM_000314.8(PTEN):c.893A>C (p.Gln298Pro) GRCh37: Chr10:89720742 GRCh38: Chr10:87960985	PTEN	Q101P, Q471P, Q298P	PTEN hamartoma tumor syndrome	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210496541.	NM_000314.8(PTEN):c.923G>T (p.Arg308Leu) GRCh37: Chr10:89720772 GRCh38: Chr10:87961015	PTEN	R111L, R308L, R481L	PTEN hamartoma tumor syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 210344642.	NM_000314.8(PTEN):c.949G>C (p.Val317Leu) GRCh37: Chr10:89720798 GRCh38: Chr10:87961041	PTEN	V490L, V120L, V317L	PTEN hamartoma tumor syndrome	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 210167143.	NM_000314.8(PTEN):c.1207G>T (p.Val403Phe) GRCh37: Chr10:89725224 GRCh38: Chr10:87965467	PTEN	V576F, V206F, V403F	PTEN hamartoma tumor syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209974444.	NM_000314.8(PTEN):c.79+19G>A GRCh37: Chr10:89624324 GRCh38: Chr10:87864567	PTEN		PTEN hamartoma tumor syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209929945.	NM_000314.8(PTEN):c.436T>G (p.Leu146Val) GRCh37: Chr10:89692952 GRCh38: Chr10:87933195	PTEN	L319V, L146V	PTEN hamartoma tumor syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209862446.	NM_000314.8(PTEN):c.481del (p.Arg161fs) GRCh37: Chr10:89692997 GRCh38: Chr10:87933240	PTEN	R334fs, R161fs	PTEN hamartoma tumor syndrome	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 209582847.	NM_000314.8(PTEN):c.307C>T (p.Pro103Ser) GRCh37: Chr10:89692823 GRCh38: Chr10:87933066	PTEN	P103S, P276S	PTEN hamartoma tumor syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209192548.	NM_000314.8(PTEN):c.311T>C (p.Phe104Ser) GRCh37: Chr10:89692827 GRCh38: Chr10:87933070	PTEN	F277S, F104S	PTEN hamartoma tumor syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 209169349.	NM_000314.8(PTEN):c.802-4_802-3insG GRCh37: Chr10:89720647-89720648 GRCh38: Chr10:87960890-87960891	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 209150650.	NM_000314.8(PTEN):c.418T>A (p.Leu140Ile) GRCh37: Chr10:89692934 GRCh38: Chr10:87933177	PTEN	L313I, L140I	PTEN hamartoma tumor syndrome	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 209135151.	NM_000314.8(PTEN):c.982del (p.Ala328fs) GRCh37: Chr10:89720831 GRCh38: Chr10:87961074	PTEN	A131fs, A328fs, A501fs	PTEN hamartoma tumor syndrome	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 209017152.	NM_000314.8(PTEN):c.828T>A (p.Asn276Lys) GRCh37: Chr10:89720677 GRCh38: Chr10:87960920	PTEN	N276K, N79K, N449K	PTEN hamartoma tumor syndrome	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 209000153.	NM_000314.8(PTEN):c.338_391del (p.Ser113_Arg130del) GRCh37: Chr10:89692852-89692905 GRCh38: Chr10:87933095-87933148	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 208913554.	NM_000314.8(PTEN):c.801+20T>C GRCh37: Chr10:89717796 GRCh38: Chr10:87958039	PTEN		PTEN hamartoma tumor syndrome	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 208847055.	NM_000314.8(PTEN):c.32G>A (p.Arg11Lys) GRCh37: Chr10:89624258 GRCh38: Chr10:87864501	PTEN	R184K, R11K	PTEN hamartoma tumor syndrome	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208748556.	NM_000314.8(PTEN):c.525G>T (p.Val175=) GRCh37: Chr10:89711907 GRCh38: Chr10:87952150	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 208423357.	NM_000314.8(PTEN):c.253+11A>T GRCh37: Chr10:89690857 GRCh38: Chr10:87931100	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 208276758.	NM_000314.8(PTEN):c.519C>T (p.Arg173=) GRCh37: Chr10:89711901 GRCh38: Chr10:87952144	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 208151059.	NM_000314.8(PTEN):c.532T>C (p.Tyr178His) GRCh37: Chr10:89711914 GRCh38: Chr10:87952157	PTEN	Y351H, Y178H	PTEN hamartoma tumor syndrome	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 208010660.	NM_000314.8(PTEN):c.706G>T (p.Asp236Tyr) GRCh37: Chr10:89717681 GRCh38: Chr10:87957924	PTEN	D39Y, D409Y, D236Y	PTEN hamartoma tumor syndrome	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 206384261.	NM_000314.8(PTEN):c.801+11T>C GRCh37: Chr10:89717787 GRCh38: Chr10:87958030	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 205943562.	NM_000314.8(PTEN):c.1071A>G (p.Pro357=) GRCh37: Chr10:89725088 GRCh38: Chr10:87965331	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 205787463.	NM_000314.8(PTEN):c.634+18T>G GRCh37: Chr10:89712034 GRCh38: Chr10:87952277	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 205541764.	NM_000314.8(PTEN):c.492+14del GRCh37: Chr10:89693017 GRCh38: Chr10:87933260	PTEN		PTEN hamartoma tumor syndrome	Benign (Feb 22, 2022)	criteria provided, single submitter
Select item 205075265.	NM_000314.8(PTEN):c.254-20A>C GRCh37: Chr10:89692750 GRCh38: Chr10:87932993	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 204315966.	NM_000314.8(PTEN):c.214G>A (p.Ala72Thr) GRCh37: Chr10:89690807 GRCh38: Chr10:87931050	PTEN	A245T, A72T	PTEN hamartoma tumor syndrome	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 203987967.	NM_000314.8(PTEN):c.210-11T>A GRCh37: Chr10:89690792 GRCh38: Chr10:87931035	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 203599568.	NM_000314.8(PTEN):c.885A>T (p.Leu295=) GRCh37: Chr10:89720734 GRCh38: Chr10:87960977	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 203478569.	NM_000314.8(PTEN):c.405del (p.Cys136fs) GRCh37: Chr10:89692921 GRCh38: Chr10:87933164	PTEN	C136fs, C309fs	PTEN hamartoma tumor syndrome	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 203392270.	NM_000314.8(PTEN):c.635-17T>G GRCh37: Chr10:89717593 GRCh38: Chr10:87957836	PTEN		PTEN hamartoma tumor syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 203386171.	NM_000314.8(PTEN):c.400A>G (p.Met134Val) GRCh37: Chr10:89692916 GRCh38: Chr10:87933159	PTEN	M134V, M307V	PTEN hamartoma tumor syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 13, 2023)	criteria provided, conflicting interpretations
Select item 203338772.	NM_000314.8(PTEN):c.79+19G>C GRCh37: Chr10:89624324 GRCh38: Chr10:87864567	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203209673.	NM_000314.8(PTEN):c.71A>C (p.Asp24Ala) GRCh37: Chr10:89624297 GRCh38: Chr10:87864540	PTEN	D197A, D24A	PTEN hamartoma tumor syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 203137474.	NM_000314.8(PTEN):c.493-8T>C GRCh37: Chr10:89711867 GRCh38: Chr10:87952110	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 202946575.	NM_000314.8(PTEN):c.1118_1122dup (p.Asp375fs) GRCh37: Chr10:89725134-89725135 GRCh38: Chr10:87965377-87965378	PTEN	D178fs, D375fs, D548fs	PTEN hamartoma tumor syndrome	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 202930076.	NM_000314.8(PTEN):c.752del (p.Gly251fs) GRCh37: Chr10:89717726 GRCh38: Chr10:87957969	PTEN	G251fs, G424fs, G54fs	PTEN hamartoma tumor syndrome	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 202922677.	NM_000314.8(PTEN):c.1173T>C (p.Pro391=) GRCh37: Chr10:89725190 GRCh38: Chr10:87965433	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 202868078.	NM_000314.8(PTEN):c.164G>A (p.Arg55Lys) GRCh37: Chr10:89653866 GRCh38: Chr10:87894109	PTEN	R228K, R55K	PTEN hamartoma tumor syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 202829079.	NM_000314.8(PTEN):c.402G>A (p.Met134Ile) GRCh37: Chr10:89692918 GRCh38: Chr10:87933161	PTEN	M134I, M307I	PTEN hamartoma tumor syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 202718180.	NM_000314.8(PTEN):c.635-32_643del GRCh37: Chr10:89717576-89717616 GRCh38: Chr10:87957819-87957859	PTEN		PTEN hamartoma tumor syndrome	Likely pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 202667681.	NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer) GRCh37: Chr10:89692936-89692937 GRCh38: Chr10:87933179-87933180	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 202356582.	NM_000314.8(PTEN):c.197dup (p.Ile67fs) GRCh37: Chr10:89685300-89685301 GRCh38: Chr10:87925543-87925544	PTEN	I240fs, I67fs	PTEN hamartoma tumor syndrome	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 202344283.	NM_000314.8(PTEN):c.164+5G>A GRCh37: Chr10:89653871 GRCh38: Chr10:87894114	PTEN		PTEN hamartoma tumor syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 202231384.	NM_000314.8(PTEN):c.116C>T (p.Ala39Val) GRCh37: Chr10:89653818 GRCh38: Chr10:87894061	PTEN	A212V, A39V	PTEN hamartoma tumor syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 11, 2023)	criteria provided, conflicting interpretations
Select item 201836585.	NM_000314.8(PTEN):c.254-15A>G GRCh37: Chr10:89692755 GRCh38: Chr10:87932998	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 201801486.	NM_000314.8(PTEN):c.729_740del (p.Phe243_Pro246del) GRCh37: Chr10:89717701-89717712 GRCh38: Chr10:87957944-87957955	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 201741787.	NM_000314.8(PTEN):c.600del (p.Phe200fs) GRCh37: Chr10:89711980 GRCh38: Chr10:87952223	PTEN	F373fs, F200fs, F3fs	PTEN hamartoma tumor syndrome	Pathogenic (Nov 29, 2021)	criteria provided, single submitter
Select item 201695688.	NM_000314.8(PTEN):c.210-7_210-4del GRCh37: Chr10:89690793-89690796 GRCh38: Chr10:87931036-87931039	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201610689.	NM_000314.8(PTEN):c.1012dup (p.Ser338fs) GRCh37: Chr10:89720857-89720858 GRCh38: Chr10:87961100-87961101	PTEN	S338fs, S141fs, S511fs	PTEN hamartoma tumor syndrome	Pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 201580790.	NM_000314.8(PTEN):c.164+9G>T GRCh37: Chr10:89653875 GRCh38: Chr10:87894118	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 201534991.	NM_000314.8(PTEN):c.397G>T (p.Val133Leu) GRCh37: Chr10:89692913 GRCh38: Chr10:87933156	PTEN	V133L, V306L	PTEN hamartoma tumor syndrome	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 201534092.	NM_000314.8(PTEN):c.462C>A (p.Phe154Leu) GRCh37: Chr10:89692978 GRCh38: Chr10:87933221	PTEN	F154L, F327L	PTEN hamartoma tumor syndrome	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 201311593.	NM_000314.8(PTEN):c.801+13C>T GRCh37: Chr10:89717789 GRCh38: Chr10:87958032	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 201174194.	NM_000314.8(PTEN):c.512del (p.Gln171fs) GRCh37: Chr10:89711894 GRCh38: Chr10:87952137	PTEN	Q344fs, Q171fs	PTEN hamartoma tumor syndrome	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 201041595.	NM_000314.8(PTEN):c.796A>G (p.Lys266Glu) GRCh37: Chr10:89717771 GRCh38: Chr10:87958014	PTEN	K266E, K439E, K69E	not provided, PTEN hamartoma tumor syndrome	Conflicting interpretations of pathogenicity (Apr 21, 2023)	criteria provided, conflicting interpretations
Select item 200713996.	NM_000314.8(PTEN):c.466G>C (p.Gly156Arg) GRCh37: Chr10:89692982 GRCh38: Chr10:87933225	PTEN	G329R, G156R	PTEN hamartoma tumor syndrome	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200633497.	NM_000314.8(PTEN):c.528_535del (p.Tyr176_Ser179delinsTer) GRCh37: Chr10:89711908-89711915 GRCh38: Chr10:87952151-87952158	PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 200539798.	NM_000314.8(PTEN):c.232del (p.Thr78fs) GRCh37: Chr10:89690825 GRCh38: Chr10:87931068	PTEN	T251fs, T78fs	PTEN hamartoma tumor syndrome	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 200262799.	NM_000314.8(PTEN):c.658C>T (p.Leu220=) GRCh37: Chr10:89717633 GRCh38: Chr10:87957876	PTEN		PTEN hamartoma tumor syndrome	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 2002427100.	NM_000314.8(PTEN):c.626dup (p.Thr210fs) GRCh37: Chr10:89712006-89712007 GRCh38: Chr10:87952249-87952250	PTEN	T383fs, T13fs, T210fs	PTEN hamartoma tumor syndrome	Pathogenic (Jun 4, 2022)	criteria provided, single submitter

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