"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PTEN"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 717443	NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)	KLLN, PTEN (A115fs)	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 583889	NC_000010.10:g.(?_89622918)_(89624325_?)dup	KLLN, LOC130004273 +2 more	Duplication	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 584299	NC_000010.11:g.(?_87863171)_(87864558_?)del	KLLN, LOC130004273 +2 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 189433	NM_001126049.2(KLLN):c.-794_-783del	KLLN, PTEN	Deletion (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benignFDA Recognized database
Select item 127661	NM_001126049.2(KLLN):c.-840G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benignFDA Recognized database
Select item 224942	NM_000314.4(PTEN):c.-1085T>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GBenign
Select item 127660	NM_001126049.2(KLLN):c.-898G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benignFDA Recognized database
Select item 127677	NM_000314.8(PTEN):c.-844T>C	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 127674	NM_000314.8(PTEN):c.-799G>C	LOC130004273, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database
Select item 7844	NM_000314.8(PTEN):c.-765G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database
Select item 810888	NM_000314.8(PTEN):c.-511G>A	PTEN (G4R)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GBenign
Select item 2852925	NM_000314.8(PTEN):c.-312_18del (p.Met1_Lys6del)	PTEN	Deletion (inframe_deletion +2 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 92808	NM_000314.8(PTEN):c.-9C>G	PTEN (L171V)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GBenignFDA Recognized database
Select item 484600	NM_000314.8(PTEN):c.1A>G (p.Met1Val)	PTEN (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	PTEN hamartoma tumor syndrome	GPathogenicFDA Recognized database
Select item 1457954	NM_000314.8(PTEN):c.3G>A (p.Met1Ile)	PTEN (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2827381	NM_000314.8(PTEN):c.6A>G (p.Thr2=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 536573	NM_000314.8(PTEN):c.6A>C (p.Thr2=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 827381	NM_000314.8(PTEN):c.7G>A (p.Ala3Thr)	PTEN (A3T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 629265	NM_000314.8(PTEN):c.8C>T (p.Ala3Val)	PTEN (A3V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 492351	NM_000314.8(PTEN):c.9C>T (p.Ala3=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1704153	NM_000314.8(PTEN):c.10A>G (p.Ile4Val)	PTEN (I177V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database
Select item 1420594	NM_000314.8(PTEN):c.11T>C (p.Ile4Thr)	PTEN (I177T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 1108328	NM_000314.8(PTEN):c.12C>T (p.Ile4=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 2735431	NM_000314.8(PTEN):c.13del (p.Ile5fs)	PTEN (I5fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 1518129	NM_000314.8(PTEN):c.13A>T (p.Ile5Phe)	PTEN (I178F +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 404139	NM_000314.8(PTEN):c.13A>G (p.Ile5Val)	PTEN (I5V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1447678	NM_000314.8(PTEN):c.14T>A (p.Ile5Asn)	PTEN (I178N +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 2817616	NM_000314.8(PTEN):c.15C>T (p.Ile5=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 1073577	NM_000314.8(PTEN):c.17_20dup (p.Ile8fs)	PTEN (I181fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 644390	NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)	PTEN (K6E +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenicFDA Recognized database
Select item 231649	NM_000314.8(PTEN):c.17_18del (p.Lys6fs)	PTEN (K179fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 233415	NM_000314.8(PTEN):c.18A>G (p.Lys6=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benignFDA Recognized database
Select item 189429	NM_000314.8(PTEN):c.21_22del (p.Glu7fs)	PTEN (E180fs +1 more)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 536560	NM_000314.8(PTEN):c.21G>C (p.Glu7Asp)	PTEN (E7D +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 428224	NM_000314.8(PTEN):c.30_32del (p.Ser10del)	PTEN (S10del +1 more)	Deletion (inframe_deletion +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2812725	NM_000314.8(PTEN):c.30C>T (p.Ser10=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 1642626	NM_000314.8(PTEN):c.31A>C (p.Arg11=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 1003310	NM_000314.8(PTEN):c.31A>G (p.Arg11Gly)	PTEN (R11G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2088470	NM_000314.8(PTEN):c.32G>A (p.Arg11Lys)	PTEN (R184K +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1473634	NM_000314.8(PTEN):c.34A>C (p.Asn12His)	PTEN (N12H +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 484601	NM_000314.8(PTEN):c.34A>G (p.Asn12Asp)	PTEN (N12D +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GUncertain significance
Select item 1320976	NM_000314.8(PTEN):c.35A>G (p.Asn12Ser)	PTEN (N12S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database
Select item 944445	NM_000314.8(PTEN):c.35A>T (p.Asn12Ile)	PTEN (N185I +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 1451593	NM_000314.8(PTEN):c.39_51del (p.Arg15fs)	PTEN (R15fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 1423454	NM_000314.8(PTEN):c.39_40dup (p.Arg14fs)	PTEN (R14fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 1458166	NM_000314.8(PTEN):c.38_51del (p.Lys13fs)	PTEN (K13fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 988004	NM_000314.8(PTEN):c.37A>G (p.Lys13Glu)	PTEN (K13E +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GLikely pathogenic
Select item 846550	NM_000314.8(PTEN):c.37A>C (p.Lys13Gln)	PTEN (K13Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic
Select item 468682	NM_000314.8(PTEN):c.37A>T (p.Lys13Ter)	PTEN (K13* +1 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly-autism syndrome +1 more	GPathogenic
Select item 1137796	NM_000314.8(PTEN):c.39A>G (p.Lys13=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 428199	NM_000314.8(PTEN):c.39_41del (p.Arg15del)	PTEN (R15del +1 more)	Deletion (inframe_deletion +1 more)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database
Select item 2819090	NM_000314.8(PTEN):c.40A>T (p.Arg14Trp)	PTEN (R14W +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 1740329	NM_000314.8(PTEN):c.44_56del (p.Arg15fs)	PTEN (R15fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 852741	NM_000314.8(PTEN):c.41G>C (p.Arg14Thr)	PTEN (R14T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 420491	NM_000314.8(PTEN):c.42G>A (p.Arg14=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database
Select item 1422662	NM_000314.8(PTEN):c.43A>T (p.Arg15Ter)	PTEN (R15* +1 more)	Single nucleotide variant (nonsense +1 more)	Cowden syndrome 1 +1 more	GPathogenic
Select item 428243	NM_000314.8(PTEN):c.44G>C (p.Arg15Thr)	PTEN (R15T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenicFDA Recognized database
Select item 404147	NM_000314.8(PTEN):c.44G>A (p.Arg15Lys)	PTEN (R15K +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenicFDA Recognized database
Select item 764606	NM_000314.8(PTEN):c.45A>G (p.Arg15=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GLikely benign
Select item 428194	NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)	PTEN (R15S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 419769	NM_000314.8(PTEN):c.45A>T (p.Arg15Ser)	PTEN (R15S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1070828	NM_000314.8(PTEN):c.49_61dup (p.Phe21fs)	PTEN (F194fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 857591	NM_000314.8(PTEN):c.46T>A (p.Tyr16Asn)	PTEN (Y16N +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2811915	NM_000314.8(PTEN):c.47A>C (p.Tyr16Ser)	PTEN (Y189S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 2798148	NM_000314.8(PTEN):c.47A>G (p.Tyr16Cys)	PTEN (Y189C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 536556	NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)	PTEN (Y16* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial meningioma +3 more	GPathogenic
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 142027	NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)	PTEN (Y16* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +7 more	GPathogenic
Select item 189458	NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)	PTEN (Q17* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome +3 more	GPathogenic
Select item 948026	NM_000314.8(PTEN):c.50A>G (p.Gln17Arg)	PTEN (Q17R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 141654	NM_000314.8(PTEN):c.50_51del (p.Gln17fs)	PTEN (Q190fs +1 more)	Deletion (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenicFDA Recognized database
Select item 237648	NM_000314.8(PTEN):c.53del (p.Glu18fs)	PTEN (E18fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 850232	NM_000314.8(PTEN):c.54G>T (p.Glu18Asp)	PTEN (E191D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 2705866	NM_000314.8(PTEN):c.57dup (p.Gly20fs)	PTEN (G20fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2001733	NM_000314.8(PTEN):c.56A>T (p.Asp19Val)	PTEN (D19V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 492333	NM_000314.8(PTEN):c.56A>G (p.Asp19Gly)	PTEN (D19G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1595549	NM_000314.8(PTEN):c.57T>C (p.Asp19=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 1459724	NM_000314.8(PTEN):c.60dup (p.Phe21fs)	PTEN (F21fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GPathogenic
Select item 1392070	NM_000314.8(PTEN):c.59G>C (p.Gly20Ala)	PTEN (G193A +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 428266	NM_000314.8(PTEN):c.59G>T (p.Gly20Val)	PTEN (G20V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenicFDA Recognized database
Select item 2743879	NM_000314.8(PTEN):c.60A>G (p.Gly20=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign
Select item 1411463	NM_000314.8(PTEN):c.63C>A (p.Phe21Leu)	PTEN (F194L +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 937589	NM_000314.8(PTEN):c.64dup (p.Asp22fs)	PTEN (D22fs +1 more)	Duplication (frameshift variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 927285	NM_000314.8(PTEN):c.63C>T (p.Phe21=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 468706	NM_000314.8(PTEN):c.64G>T (p.Asp22Tyr)	PTEN (D22Y +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 233456	NM_000314.8(PTEN):c.64G>C (p.Asp22His)	PTEN (D22H +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenicFDA Recognized database
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 468708	NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer)	PTEN	Deletion (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 234830	NM_000314.8(PTEN):c.67T>G (p.Leu23Val)	PTEN (L23V +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GLikely pathogenicFDA Recognized database OLikely oncogenic
Select item 2827098	NM_000314.8(PTEN):c.68T>C (p.Leu23Ser)	PTEN (L196S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 826697	NM_000314.8(PTEN):c.68T>G (p.Leu23Ter)	PTEN (L196* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 642358	NM_000314.8(PTEN):c.69dup (p.Asp24fs)	PTEN (D197fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 641969	NM_000314.8(PTEN):c.69_71dup (p.Leu23_Asp24insGlu)	PTEN	Duplication (inframe_insertion +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 186005	NM_000314.8(PTEN):c.70G>C (p.Asp24His)	PTEN (D24H +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma +3 more	GPathogenic/Likely pathogenic
Select item 2032096	NM_000314.8(PTEN):c.71A>C (p.Asp24Ala)	PTEN (D197A +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance

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