"GeneDx"[submitter] AND "PTEN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 189461	NM_000314.4(PTEN):c.-1341G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488770	NM_000314.6(PTEN):c.-1338T>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488849	NM_000314.4(PTEN):c.-1335G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503507	NM_000314.4(PTEN):c.-1330A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 503638	NM_000314.4(PTEN):c.-1324C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488905	NM_000314.4(PTEN):c.-1321C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 127667	NM_000314.6(PTEN):c.-1311T>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 488761	NM_000314.4(PTEN):c.-1310C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488860	NM_000314.4(PTEN):c.-1307C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488886	NM_000314.4(PTEN):c.-1301T>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488783	NM_000314.4(PTEN):c.-1298T>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488754	NM_000314.4(PTEN):c.-1295G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488713	NC_000010.11:g.87863176C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234639	NM_000314.4(PTEN):c.-1290C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 488910	NM_000314.4(PTEN):c.-1287C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488901	NM_000314.4(PTEN):c.-1281C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488934	NM_000314.4(PTEN):c.-1275A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 503639	NM_000314.4(PTEN):c.-1266C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189445	NM_000314.4(PTEN):c.-1248dupT	KLLN, PTEN	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488964	NM_000314.4(PTEN):c.-1246C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	VACTERL with hydrocephalus +7 more	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 488776	NM_000314.4(PTEN):c.-1240A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234894	NC_000010.11:g.87863235C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 189526	NM_000314.4(PTEN):c.-1234C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488867	NM_000314.4(PTEN):c.-1226A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488868	NM_000314.4(PTEN):c.-1224C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488935	NM_000314.4(PTEN):c.-1222delC	KLLN, PTEN	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 488954	NM_000314.4(PTEN):c.-1221G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488773	NC_000010.11:g.87863248G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488850	NM_000314.6(PTEN):c.-1212G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189521	NM_000314.4(PTEN):c.-1210C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189469	NM_000314.4(PTEN):c.-1208C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234396	NC_000010.11:g.87863262G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488714	NM_000314.4(PTEN):c.-1206C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488715	NM_000314.8(PTEN):c.-1206G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1 +5 more	GUncertain significance
Select item 234473	NC_000010.11:g.87863267G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	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 488900	NM_000314.4(PTEN):c.-1192C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127663	NM_001126049.2(KLLN):c.-792C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 488716	NM_000314.6(PTEN):c.-1181G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503748	NM_000314.4(PTEN):c.-1179_-1178delAGinsTT	KLLN, PTEN	Indel (5 prime UTR variant)	not provided	GUncertain significance
Select item 142652	NM_000314.6(PTEN):c.-1179A>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142844	NM_001126049.2(KLLN):c.-806A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 488939	NM_001126049.2(KLLN):c.-808G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488866	NC_000010.11:g.87863296A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488786	NM_000314.4(PTEN):c.-1172G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 140783	NC_000010.11:g.87863299C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 127662	NM_000314.6(PTEN):c.-1170C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 187362	NM_000314.4(PTEN):c.-1154G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Macrocephaly-autism syndrome +8 more	GUncertain significance
Select item 488717	NM_000314.4(PTEN):c.-1153G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234900	NM_000314.4(PTEN):c.-1144A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488748	NM_000314.4(PTEN):c.-1143G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234867	NM_000314.4(PTEN):c.-1142C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 234632	NM_000314.4(PTEN):c.-1141_-1140delCC	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	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 141864	NM_001126049.2(KLLN):c.-845C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 488938	NC_000010.11:g.87863333G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189434	NM_000314.4(PTEN):c.-1135_-1134insT	KLLN, PTEN	Insertion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 503509	NM_000314.4(PTEN):c.-1130A>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488922	NM_000314.4(PTEN):c.-1122C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234686	NM_000314.4(PTEN):c.-1121A>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503505	NM_000314.6(PTEN):c.-1120T>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503511	NM_000314.6(PTEN):c.-1112A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488930	NM_000314.4(PTEN):c.-1109G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488885	NM_000314.4(PTEN):c.-1100T>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488791	NM_000314.4(PTEN):c.-1100T>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 418430	NM_000314.4(PTEN):c.-1098G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 189470	NM_000314.4(PTEN):c.-1096G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189471	NM_000314.4(PTEN):c.-1095G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189435	NM_000314.6(PTEN):c.-1088_-1063del26	KLLN, LOC130004273 +1 more	Deletion (5 prime UTR variant)	PTEN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 488788	NC_000010.11:g.87863385C>G	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 benign FDA Recognized database
Select item 488921	NM_000314.4(PTEN):c.-1083G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 141878	NM_000314.4(PTEN):c.-1076G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488899	NM_000314.4(PTEN):c.-1075A>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488937	NM_000314.6(PTEN):c.-1074G>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488898	NM_000314.4(PTEN):c.-1074G>C	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488904	NM_000314.4(PTEN):c.-1070C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 141628	NM_000314.4(PTEN):c.-1070C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 503506	NM_000314.4(PTEN):c.-1069C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 503640	NM_000314.4(PTEN):c.-1064T>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 419015	NM_000314.4(PTEN):c.-1062C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 419909	NM_000314.4(PTEN):c.-1061C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 189520	NM_000314.6(PTEN):c.-1059C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 488871	NM_000314.4(PTEN):c.-1057T>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488767	NC_000010.11:g.87863412T>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 141110	NM_000314.4(PTEN):c.-1056C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 503731	NM_000314.4(PTEN):c.-1038_-1029dupGCCCTGCCCT	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	not specified	GUncertain significance
Select item 140901	NM_000314.8(PTEN):c.-1034_-1030dupGCCCT	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 234399	NM_000314.4(PTEN):c.-1047C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 141598	NM_000314.4(PTEN):c.-1033_-1029delGCCCT	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 189473	NM_001126049.2(KLLN):c.-938A>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 488735	NM_000314.4(PTEN):c.-1043G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 234495	NM_000314.4(PTEN):c.-1041C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503730	NC_000010.11:g.87863437CCCTC[3]	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 420807	NM_000314.6(PTEN):c.-1032C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 418431	NM_000314.6(PTEN):c.-1031C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 422544	NM_000314.6(PTEN):c.-1028C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance

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