pten[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 597031.	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 GRCh37: Chr10:86194737-90910559 GRCh38: Chr10:84434981-89150802	ACTA2, ACTA2-AS1, ADIRF, ADIRF-AS1, AGAP11, ANKRD22, ATAD1, BMPR1A, CCSER2, FAM245A, FAM25A, FAS, FAS-AS1, GLUD1, GRID1, GRID1-AS1, KLLN, LDB3, LINC00863, LINC01519, LINC01520, LINC02647, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOC110121486, LOC111982877, LOC111982878, LOC116216117, LOC121366069, LOC121366070, LOC121366071, LOC121815954, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC124416863, LOC124416864, MINPP1, MIR346, MIR4678, MIR4679-1, MIR4679-2, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, OPN4, PAPSS2, PTEN, RNLS, SHLD2, SNCG, STAMBPL1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter	VCV000059703
Select item 6611982.	NC_000010.11:g.(?_86755016)_(87965482_?)del GRCh37: Chr10:88514773-89725239 GRCh38: Chr10:86755016-87965482	ADIRF, ADIRF-AS1, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic (Mar 6, 2019)	criteria provided, single submitter	VCV000661198
Select item 6469723.	NC_000010.11:g.(?_86838866)_(87965482_?)del GRCh37: Chr10:88598623-89725239 GRCh38: Chr10:86838866-87965482	ADIRF, ADIRF-AS1, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic (Nov 1, 2018)	criteria provided, single submitter	VCV000646972
Select item 6601584.	NC_000010.11:g.(?_86875868)_(87894129_?)del GRCh37: Chr10:88635625-89653886 GRCh38: Chr10:86875868-87894129	ADIRF, ADIRF-AS1, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG		PTEN hamartoma tumor syndrome	Pathogenic (Sep 17, 2018)	criteria provided, single submitter	VCV000660158
Select item 5231555.	GRCh38/hg38 10q23.31(chr10:87830830-88617225)x1 GRCh37: Chr10:89590587-90376982 GRCh38: Chr10:87830830-88617225	ATAD1, KLLN, LIPJ, LOC121815954, LOC124416863, LOC124416864, PTEN, RNLS		Poly (ADP-Ribose) polymerase inhibitor response	drug response (Nov 27, 2017)	no assertion criteria provided	VCV000523155
Select item 13372896.	NM_001126049.2(KLLN):c.518A>G (p.Lys173Arg) GRCh37: Chr10:89621727 GRCh38: Chr10:87861970	KLLN, PTEN	K173R	not specified	Uncertain significance (Jul 23, 2019)	criteria provided, single submitter	VCV001337289
Select item 13378187.	NM_001126049.2(KLLN):c.445T>A (p.Trp149Arg) GRCh37: Chr10:89621800 GRCh38: Chr10:87862043	KLLN, PTEN	W149R	not specified	Benign (Aug 25, 2020)	criteria provided, single submitter	VCV001337818
Select item 13378568.	NM_001126049.2(KLLN):c.392A>G (p.Asn131Ser) GRCh37: Chr10:89621853 GRCh38: Chr10:87862096	KLLN, PTEN	N131S	not specified	Benign (Aug 25, 2020)	criteria provided, single submitter	VCV001337856
Select item 13375679.	NM_001126049.2(KLLN):c.384C>T (p.Arg128_Leu129=) GRCh37: Chr10:89621861 GRCh38: Chr10:87862104	KLLN, PTEN		not specified	Uncertain significance (Mar 3, 2020)	criteria provided, single submitter	VCV001337567
Select item 117473410.	NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly) GRCh37: Chr10:89621863 GRCh38: Chr10:87862106	KLLN, PTEN	R128G	not provided, not specified	Benign (Aug 25, 2020)	criteria provided, single submitter	VCV001174734
Select item 133614311.	NM_001126049.2(KLLN):c.342_343del (p.Ala115fs) GRCh37: Chr10:89621902-89621903 GRCh38: Chr10:87862145-87862146	KLLN, PTEN	A115fs	not specified	Uncertain significance (Apr 20, 2020)	criteria provided, single submitter	VCV001336143
Select item 71744312.	NM_001126049.2(KLLN):c.339_340del (p.Ala115fs) GRCh37: Chr10:89621905-89621906 GRCh38: Chr10:87862148-87862149	KLLN, PTEN	A115fs	not specified, not provided	Conflicting interpretations of pathogenicity (Apr 20, 2020)	criteria provided, conflicting interpretations	VCV000717443
Select item 133673213.	NM_001126049.2(KLLN):c.235C>A (p.Pro79Thr) GRCh37: Chr10:89622010 GRCh38: Chr10:87862253	KLLN, PTEN	P79T	not specified	Uncertain significance (Apr 20, 2020)	criteria provided, single submitter	VCV001336732
Select item 133673114.	NM_001126049.2(KLLN):c.234C>A (p.Leu78_Pro79=) GRCh37: Chr10:89622011 GRCh38: Chr10:87862254	KLLN, PTEN		not specified	Uncertain significance (Apr 20, 2020)	criteria provided, single submitter	VCV001336731
Select item 133818215.	NM_001126049.2(KLLN):c.204C>T (p.Ser68=) GRCh37: Chr10:89622041 GRCh38: Chr10:87862284	KLLN, PTEN		not specified	Uncertain significance (Nov 30, 2021)	criteria provided, single submitter	VCV001338182
Select item 133801216.	NM_001126049.2(KLLN):c.131G>C (p.Gly44Ala) GRCh37: Chr10:89622114 GRCh38: Chr10:87862357	KLLN, PTEN	G44A	not specified	Uncertain significance (Dec 18, 2020)	criteria provided, single submitter	VCV001338012
Select item 133795817.	NM_001126049.2(KLLN):c.130G>C (p.Gly44Arg) GRCh37: Chr10:89622115 GRCh38: Chr10:87862358	KLLN, PTEN	G44R	not specified	Uncertain significance (Dec 18, 2020)	criteria provided, single submitter	VCV001337958
Select item 133742818.	NM_001126049.2(KLLN):c.66T>A (p.Val22_Glu23=) GRCh37: Chr10:89622179 GRCh38: Chr10:87862422	KLLN, PTEN		not specified	Uncertain significance (Nov 15, 2019)	criteria provided, single submitter	VCV001337428
Select item 133742719.	NM_001126049.2(KLLN):c.65T>A (p.Val22Asp) GRCh37: Chr10:89622180 GRCh38: Chr10:87862423	KLLN, PTEN	V22D	not specified	Uncertain significance (Nov 15, 2019)	criteria provided, single submitter	VCV001337427
Select item 133708720.	NM_001126049.2(KLLN):c.58T>C (p.Tyr20His) GRCh37: Chr10:89622187 GRCh38: Chr10:87862430	KLLN, PTEN	Y20H	not specified	Likely benign (Apr 2, 2019)	criteria provided, single submitter	VCV001337087
Select item 133708621.	NM_001126049.2(KLLN):c.57T>C (p.Gly19_Tyr20=) GRCh37: Chr10:89622188 GRCh38: Chr10:87862431	KLLN, PTEN		not specified	Likely benign (Apr 2, 2019)	criteria provided, single submitter	VCV001337086
Select item 133779622.	NM_001126049.2(KLLN):c.17C>T (p.Pro6Leu) GRCh37: Chr10:89622228 GRCh38: Chr10:87862471	KLLN, PTEN	P6L	not specified	Uncertain significance (Jan 4, 2021)	criteria provided, single submitter	VCV001337796
Select item 18946123.	NM_001126049.2(KLLN):c.-641C>T GRCh37: Chr10:89622885 GRCh38: Chr10:87863128	KLLN, PTEN		not provided	Uncertain significance (Jul 9, 2014)	criteria provided, single submitter	VCV000189461
Select item 48877024.	NM_001126049.2(KLLN):c.-644A>T GRCh37: Chr10:89622888 GRCh38: Chr10:87863131	KLLN, PTEN		not provided	Uncertain significance (Aug 30, 2019)	criteria provided, multiple submitters, no conflicts	VCV000488770
Select item 48884925.	NM_001126049.2(KLLN):c.-647C>T GRCh37: Chr10:89622891 GRCh38: Chr10:87863134	KLLN, PTEN		not provided	Uncertain significance (Dec 1, 2015)	criteria provided, single submitter	VCV000488849
Select item 50350726.	NM_001126049.2(KLLN):c.-652T>C GRCh37: Chr10:89622896 GRCh38: Chr10:87863139	KLLN, PTEN		not specified	Uncertain significance (Mar 30, 2015)	criteria provided, single submitter	VCV000503507
Select item 50363827.	NM_001126049.2(KLLN):c.-658G>T GRCh37: Chr10:89622902 GRCh38: Chr10:87863145	KLLN, PTEN		not provided	Uncertain significance (Dec 31, 2014)	criteria provided, single submitter	VCV000503638
Select item 48890528.	NM_001126049.2(KLLN):c.-661G>T GRCh37: Chr10:89622905 GRCh38: Chr10:87863148	KLLN, PTEN		not provided	Uncertain significance (Jun 21, 2017)	criteria provided, single submitter	VCV000488905
Select item 12766729.	NM_001126049.2(KLLN):c.-671A>G GRCh37: Chr10:89622915 GRCh38: Chr10:87863158	KLLN, PTEN		PTEN hamartoma tumor syndrome, not provided	Benign (Jun 2, 2017)	reviewed by expert panel FDA Recognized Database	VCV000127667
Select item 48876130.	NM_001126049.2(KLLN):c.-672G>A GRCh37: Chr10:89622916 GRCh38: Chr10:87863159	KLLN, PTEN		not provided	Uncertain significance (May 12, 2015)	criteria provided, single submitter	VCV000488761
Select item 58388931.	NC_000010.10:g.(?_89622918)_(89624325_?)dup GRCh37: Chr10:89622918-89624325 GRCh38: Chr10:87863161-87864568	KLLN, PTEN		PTEN hamartoma tumor syndrome	Uncertain significance (Feb 27, 2018)	criteria provided, single submitter	VCV000583889
Select item 48886032.	NM_001126049.2(KLLN):c.-675G>A GRCh37: Chr10:89622919 GRCh38: Chr10:87863162	KLLN, PTEN		not provided	Uncertain significance (Aug 16, 2016)	criteria provided, single submitter	VCV000488860
Select item 43928733.	NM_001126049.2(KLLN):c.-677A>T GRCh37: Chr10:89622921 GRCh38: Chr10:87863164	KLLN, PTEN		not specified	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter	VCV000439287
Select item 48888634.	NM_001126049.2(KLLN):c.-681A>C GRCh37: Chr10:89622925 GRCh38: Chr10:87863168	KLLN, PTEN		not provided	Uncertain significance (Mar 26, 2016)	criteria provided, single submitter	VCV000488886
Select item 58429935.	NC_000010.11:g.(?_87863171)_(87864558_?)del GRCh37: Chr10:89622928-89624315 GRCh38: Chr10:87863171-87864558	KLLN, PTEN		PTEN hamartoma tumor syndrome	Pathogenic (Sep 9, 2021)	criteria provided, single submitter	VCV000584299
Select item 48878336.	NM_001126049.2(KLLN):c.-684A>T GRCh37: Chr10:89622928 GRCh38: Chr10:87863171	KLLN, PTEN		not provided	Uncertain significance (Oct 11, 2017)	criteria provided, single submitter	VCV000488783
Select item 48875437.	NM_001126049.2(KLLN):c.-687C>A GRCh37: Chr10:89622931 GRCh38: Chr10:87863174	KLLN, PTEN		not provided	Uncertain significance (Oct 9, 2017)	criteria provided, single submitter	VCV000488754
Select item 48871338.	NM_001126049.2(KLLN):c.-689G>A GRCh37: Chr10:89622933 GRCh38: Chr10:87863176	KLLN, PTEN		not provided	Uncertain significance (Sep 26, 2016)	criteria provided, single submitter	VCV000488713
Select item 23463939.	NM_001126049.2(KLLN):c.-692G>A GRCh37: Chr10:89622936 GRCh38: Chr10:87863179	KLLN, PTEN		not specified	Uncertain significance (Oct 13, 2016)	criteria provided, single submitter	VCV000234639
Select item 80127440.	NM_001126049.2(KLLN):c.-695dup GRCh37: Chr10:89622938-89622939 GRCh38: Chr10:87863181-87863182	KLLN, PTEN		not provided	Uncertain significance (Feb 22, 2019)	criteria provided, single submitter	VCV000801274
Select item 48891041.	NM_001126049.2(KLLN):c.-695G>A GRCh37: Chr10:89622939 GRCh38: Chr10:87863182	KLLN, PTEN		Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Mar 17, 2018)	criteria provided, multiple submitters, no conflicts	VCV000488910
Select item 14182142.	NM_001126049.2(KLLN):c.-695G>C GRCh37: Chr10:89622939 GRCh38: Chr10:87863182	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 7, 2017)	criteria provided, single submitter	VCV000141821
Select item 81880243.	NM_001126049.2(KLLN):c.-697G>A GRCh37: Chr10:89622941 GRCh38: Chr10:87863184	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (May 9, 2018)	criteria provided, single submitter	VCV000818802
Select item 81879444.	NM_001126049.2(KLLN):c.-698G>A GRCh37: Chr10:89622942 GRCh38: Chr10:87863185	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 7, 2018)	criteria provided, single submitter	VCV000818794
Select item 48890145.	NM_001126049.2(KLLN):c.-701G>A GRCh37: Chr10:89622945 GRCh38: Chr10:87863188	KLLN, PTEN		not provided	Uncertain significance (May 2, 2016)	criteria provided, single submitter	VCV000488901
Select item 48893446.	NM_001126049.2(KLLN):c.-707T>C GRCh37: Chr10:89622951 GRCh38: Chr10:87863194	KLLN, PTEN		Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (May 2, 2018)	criteria provided, multiple submitters, no conflicts	VCV000488934
Select item 50363947.	NM_001126049.2(KLLN):c.-716G>T GRCh37: Chr10:89622960 GRCh38: Chr10:87863203	KLLN, PTEN		not provided	Uncertain significance (Jan 26, 2015)	criteria provided, single submitter	VCV000503639
Select item 49271748.	NM_001126049.2(KLLN):c.-720C>A GRCh37: Chr10:89622964 GRCh38: Chr10:87863207	KLLN, PTEN		not specified	Uncertain significance	no assertion criteria provided	VCV000492717
Select item 81872149.	NM_001126049.2(KLLN):c.-721G>A GRCh37: Chr10:89622965 GRCh38: Chr10:87863208	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 16, 2019)	criteria provided, single submitter	VCV000818721
Select item 14106250.	NM_001126049.2(KLLN):c.-726C>T GRCh37: Chr10:89622970 GRCh38: Chr10:87863213	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 24, 2019)	criteria provided, single submitter	VCV000141062
Select item 18944551.	NM_001126049.2(KLLN):c.-733dup GRCh37: Chr10:89622976-89622977 GRCh38: Chr10:87863219-87863220	KLLN, PTEN		Hereditary cancer-predisposing syndrome, not specified	Uncertain significance (Sep 27, 2018)	criteria provided, multiple submitters, no conflicts	VCV000189445
Select item 48896452.	NM_001126049.2(KLLN):c.-736G>C GRCh37: Chr10:89622980 GRCh38: Chr10:87863223	KLLN, PTEN		not provided, Cowden syndrome 1, Malignant tumor of prostate, PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome, Familial meningioma, VACTERL with hydrocephalus, Glioma susceptibility 2	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts	VCV000488964
Select item 81868153.	NM_001126049.2(KLLN):c.-738del GRCh37: Chr10:89622982 GRCh38: Chr10:87863225	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 23, 2018)	criteria provided, single submitter	VCV000818681
Select item 12766654.	NM_001126049.2(KLLN):c.-739C>T GRCh37: Chr10:89622983 GRCh38: Chr10:87863226	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 5, 2018)	criteria provided, single submitter	VCV000127666
Select item 18952255.	NM_000314.4(PTEN):c.-1242G>A GRCh37: Chr10:89622984 GRCh38: Chr10:87863227	KLLN, PTEN		not provided, PTEN hamartoma tumor syndrome	Uncertain significance (May 28, 2019)	criteria provided, multiple submitters, no conflicts	VCV000189522
Select item 48877656.	NM_001126049.2(KLLN):c.-742T>G GRCh37: Chr10:89622986 GRCh38: Chr10:87863229	KLLN, PTEN		not provided	Uncertain significance (Jul 28, 2015)	criteria provided, single submitter	VCV000488776
Select item 81867257.	NM_001126049.2(KLLN):c.-745C>A GRCh37: Chr10:89622989 GRCh38: Chr10:87863232	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 25, 2019)	criteria provided, single submitter	VCV000818672
Select item 81867158.	NM_001126049.2(KLLN):c.-745C>T GRCh37: Chr10:89622989 GRCh38: Chr10:87863232	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 26, 2017)	criteria provided, single submitter	VCV000818671
Select item 18664459.	NM_001126049.2(KLLN):c.-747G>A GRCh37: Chr10:89622991 GRCh38: Chr10:87863234	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 23, 2018)	criteria provided, single submitter	VCV000186644
Select item 12766560.	NM_001126049.2(KLLN):c.-747G>C GRCh37: Chr10:89622991 GRCh38: Chr10:87863234	KLLN, PTEN		not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 25, 2019)	criteria provided, multiple submitters, no conflicts	VCV000127665
Select item 23489461.	NM_001126049.2(KLLN):c.-748G>A GRCh37: Chr10:89622992 GRCh38: Chr10:87863235	KLLN, PTEN		Cowden syndrome 4, not specified	Uncertain significance (Dec 9, 2020)	criteria provided, multiple submitters, no conflicts	VCV000234894
Select item 18952662.	NM_001126049.2(KLLN):c.-748G>C GRCh37: Chr10:89622992 GRCh38: Chr10:87863235	KLLN, PTEN		not provided	Uncertain significance (Jan 3, 2014)	criteria provided, single submitter	VCV000189526
Select item 48886763.	NM_001126049.2(KLLN):c.-756T>G GRCh37: Chr10:89623000 GRCh38: Chr10:87863243	KLLN, PTEN		not provided	Uncertain significance (Sep 29, 2016)	criteria provided, single submitter	VCV000488867
Select item 48886864.	NM_001126049.2(KLLN):c.-758G>A GRCh37: Chr10:89623002 GRCh38: Chr10:87863245	KLLN, PTEN		not provided	Uncertain significance (Oct 17, 2017)	criteria provided, single submitter	VCV000488868
Select item 48893565.	NM_001126049.2(KLLN):c.-760del GRCh37: Chr10:89623004 GRCh38: Chr10:87863247	KLLN, PTEN		not provided	Uncertain significance (Apr 4, 2018)	criteria provided, single submitter	VCV000488935
Select item 48895466.	NM_001126049.2(KLLN):c.-761C>T GRCh37: Chr10:89623005 GRCh38: Chr10:87863248	KLLN, PTEN		not provided	Uncertain significance (Nov 9, 2016)	criteria provided, single submitter	VCV000488954
Select item 48877367.	NM_001126049.2(KLLN):c.-761C>G GRCh37: Chr10:89623005 GRCh38: Chr10:87863248	KLLN, PTEN		not provided	Uncertain significance (May 25, 2020)	criteria provided, multiple submitters, no conflicts	VCV000488773
Select item 18699168.	NM_001126049.2(KLLN):c.-766G>A GRCh37: Chr10:89623010 GRCh38: Chr10:87863253	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 30, 2014)	criteria provided, single submitter	VCV000186991
Select item 14299969.	NM_001126049.2(KLLN):c.-768A>C GRCh37: Chr10:89623012 GRCh38: Chr10:87863255	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 2, 2014)	criteria provided, single submitter	VCV000142999
Select item 48885070.	NM_001126049.2(KLLN):c.-770C>A GRCh37: Chr10:89623014 GRCh38: Chr10:87863257	KLLN, PTEN		not provided	Uncertain significance (Oct 27, 2017)	criteria provided, multiple submitters, no conflicts	VCV000488850
Select item 18952171.	NM_001126049.2(KLLN):c.-772G>A GRCh37: Chr10:89623016 GRCh38: Chr10:87863259	KLLN, PTEN		not provided	Uncertain significance (Aug 11, 2017)	criteria provided, single submitter	VCV000189521
Select item 18946972.	NM_001126049.2(KLLN):c.-774G>A GRCh37: Chr10:89623018 GRCh38: Chr10:87863261	KLLN, PTEN		not provided	Uncertain significance (Apr 21, 2014)	criteria provided, single submitter	VCV000189469
Select item 23439673.	NM_001126049.2(KLLN):c.-775C>G GRCh37: Chr10:89623019 GRCh38: Chr10:87863262	KLLN, PTEN		not provided	Uncertain significance (Apr 8, 2020)	criteria provided, multiple submitters, no conflicts	VCV000234396
Select item 48871474.	NM_001126049.2(KLLN):c.-776G>C GRCh37: Chr10:89623020 GRCh38: Chr10:87863263	KLLN, PTEN		not provided	Uncertain significance (May 11, 2015)	criteria provided, single submitter	VCV000488714
Select item 48871575.	NM_001126049.2(KLLN):c.-777C>T GRCh37: Chr10:89623021 GRCh38: Chr10:87863264	KLLN, PTEN		not provided	Uncertain significance (Jul 10, 2017)	criteria provided, single submitter	VCV000488715
Select item 23447376.	NM_001126049.2(KLLN):c.-780C>T GRCh37: Chr10:89623024 GRCh38: Chr10:87863267	KLLN, PTEN		not provided	Uncertain significance (Nov 29, 2017)	criteria provided, single submitter	VCV000234473
Select item 18943377.	NM_001126049.2(KLLN):c.-794_-783del GRCh37: Chr10:89623027-89623038 GRCh38: Chr10:87863270-87863281	KLLN, PTEN		Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome, not provided	Likely benign (Mar 5, 2019)	reviewed by expert panel FDA Recognized Database	VCV000189433
Select item 48890078.	NM_001126049.2(KLLN):c.-790G>A GRCh37: Chr10:89623034 GRCh38: Chr10:87863277	KLLN, PTEN		Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Nov 30, 2019)	criteria provided, multiple submitters, no conflicts	VCV000488900
Select item 14298279.	NM_001126049.2(KLLN):c.-797TGC[1] GRCh37: Chr10:89623036-89623038 GRCh38: Chr10:87863279-87863281	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 26, 2014)	criteria provided, single submitter	VCV000142982
Select item 12766380.	NM_001126049.2(KLLN):c.-792C>T GRCh37: Chr10:89623036 GRCh38: Chr10:87863279	KLLN, PTEN		not provided, PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, Macrocephaly-autism syndrome, Malignant tumor of prostate, Cowden syndrome 1, PTEN hamartoma tumor syndrome, Familial meningioma, VACTERL with hydrocephalus, Glioma susceptibility 2	Uncertain significance (Mar 23, 2020)	reviewed by expert panel FDA Recognized Database	VCV000127663
Select item 119223381.	NM_001126049.2(KLLN):c.-801C>T GRCh37: Chr10:89623045 GRCh38: Chr10:87863288	KLLN, PTEN		not specified	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter	VCV001192233
Select item 81850482.	NM_001126049.2(KLLN):c.-817_-801del GRCh37: Chr10:89623045-89623061 GRCh38: Chr10:87863288-87863304	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 8, 2019)	criteria provided, single submitter	VCV000818504
Select item 48871683.	NM_001126049.2(KLLN):c.-801C>A GRCh37: Chr10:89623045 GRCh38: Chr10:87863288	KLLN, PTEN		not provided	Uncertain significance (Dec 23, 2017)	criteria provided, multiple submitters, no conflicts	VCV000488716
Select item 50374884.	NM_001126049.2(KLLN):c.-804_-803delinsAA GRCh37: Chr10:89623047-89623048 GRCh38: Chr10:87863290-87863291	KLLN, PTEN		not provided	Uncertain significance (Aug 29, 2016)	criteria provided, single submitter	VCV000503748
Select item 14265285.	NM_001126049.2(KLLN):c.-803T>A GRCh37: Chr10:89623047 GRCh38: Chr10:87863290	KLLN, PTEN		not specified, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts	VCV000142652
Select item 14284486.	NM_001126049.2(KLLN):c.-806A>C GRCh37: Chr10:89623050 GRCh38: Chr10:87863293	KLLN, PTEN		Cowden syndrome 1, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Feb 13, 2018)	criteria provided, multiple submitters, no conflicts	VCV000142844
Select item 133750987.	NM_001126049.2(KLLN):c.-808G>T GRCh37: Chr10:89623052 GRCh38: Chr10:87863295	KLLN, PTEN		not specified	Uncertain significance (Jan 7, 2020)	criteria provided, single submitter	VCV001337509
Select item 48893988.	NM_001126049.2(KLLN):c.-808G>A GRCh37: Chr10:89623052 GRCh38: Chr10:87863295	KLLN, PTEN		not provided	Uncertain significance (Sep 19, 2016)	criteria provided, single submitter	VCV000488939
Select item 48886689.	NM_001126049.2(KLLN):c.-809T>C GRCh37: Chr10:89623053 GRCh38: Chr10:87863296	KLLN, PTEN		not provided	Uncertain significance (Mar 7, 2016)	criteria provided, single submitter	VCV000488866
Select item 48878690.	NM_001126049.2(KLLN):c.-810C>T GRCh37: Chr10:89623054 GRCh38: Chr10:87863297	KLLN, PTEN		not provided	Uncertain significance (Jan 3, 2017)	criteria provided, single submitter	VCV000488786
Select item 14117091.	NM_001126049.2(KLLN):c.-810C>G GRCh37: Chr10:89623054 GRCh38: Chr10:87863297	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (May 17, 2018)	criteria provided, single submitter	VCV000141170
Select item 14078392.	NM_001126049.2(KLLN):c.-812G>T GRCh37: Chr10:89623056 GRCh38: Chr10:87863299	KLLN, PTEN		not provided, Hereditary cancer-predisposing syndrome, Cowden syndrome 1	Uncertain significance (Sep 12, 2019)	criteria provided, multiple submitters, no conflicts	VCV000140783
Select item 12766293.	NM_001126049.2(KLLN):c.-812G>A GRCh37: Chr10:89623056 GRCh38: Chr10:87863299	KLLN, PTEN		Hereditary cancer-predisposing syndrome, Cowden syndrome 1, not provided, PTEN hamartoma tumor syndrome	Likely benign (Mar 23, 2020)	reviewed by expert panel FDA Recognized Database	VCV000127662
Select item 81847494.	NM_001126049.2(KLLN):c.-814C>G GRCh37: Chr10:89623058 GRCh38: Chr10:87863301	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 14, 2018)	criteria provided, single submitter	VCV000818474
Select item 82226495.	NM_001126049.2(KLLN):c.-817C>T GRCh37: Chr10:89623061 GRCh38: Chr10:87863304	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 6, 2018)	criteria provided, single submitter	VCV000822264
Select item 81844496.	NM_001126049.2(KLLN):c.-822_-821delinsTT GRCh37: Chr10:89623065-89623066 GRCh38: Chr10:87863308-87863309	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 2, 2019)	criteria provided, single submitter	VCV000818444
Select item 18736297.	NM_001126049.2(KLLN):c.-828C>T GRCh37: Chr10:89623072 GRCh38: Chr10:87863315	KLLN, PTEN		not provided, Hereditary cancer-predisposing syndrome, Glioma susceptibility 2, PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome, Malignant tumor of prostate, VACTERL with hydrocephalus, Cowden syndrome 1, Familial meningioma	Uncertain significance (Aug 12, 2019)	criteria provided, multiple submitters, no conflicts	VCV000187362
Select item 48871798.	NM_001126049.2(KLLN):c.-829C>T GRCh37: Chr10:89623073 GRCh38: Chr10:87863316	KLLN, PTEN		not provided	Uncertain significance (Feb 17, 2017)	criteria provided, single submitter	VCV000488717
Select item 81843099.	NM_001126049.2(KLLN):c.-830G>A GRCh37: Chr10:89623074 GRCh38: Chr10:87863317	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 10, 2019)	criteria provided, single submitter	VCV000818430
Select item 818427100.	NM_001126049.2(KLLN):c.-831G>C GRCh37: Chr10:89623075 GRCh38: Chr10:87863318	KLLN, PTEN		Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 18, 2018)	criteria provided, single submitter	VCV000818427

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