10[chr] AND 89623000:89730000[chrpos37] - 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 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 1771406	NM_000314.4(PTEN):c.-1032-222_-366del889	KLLN, LOC130004273 +2 more	Deletion	Hereditary cancer-predisposing syndrome	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 2682053	NM_000314.4(PTEN):c.-1223del	KLLN, PTEN	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 3340045	NM_000314.8(PTEN):c.-1223C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	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 3366332	NM_000314.8(PTEN):c.-1217C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 186991	NM_000314.4(PTEN):c.-1216C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142999	NM_000314.4(PTEN):c.-1214T>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 1750483	NM_000314.5(PTEN):c.-1211C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 1746231	NM_000314.4(PTEN):c.-1197A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 142982	NM_000314.4(PTEN):c.-1187_-1185delGCA	KLLN, PTEN	Microsatellite (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 1192233	NM_000314.6(PTEN):c.-1181G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 818504	NM_000314.4(PTEN):c.-1180_-1164del17	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1337509	NM_000314.4(PTEN):c.-1174C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 1739946	NM_000314.4(PTEN):c.-1172G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 141170	NM_000314.4(PTEN):c.-1172G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 3046566	NC_000010.11:g.87863301G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder	GLikely benign
Select item 1738801	NM_000314.4(PTEN):c.-1168G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818474	NM_000314.4(PTEN):c.-1168G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822264	NM_000314.4(PTEN):c.-1165G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736972	NM_000314.4(PTEN):c.-1161G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818444	NM_000314.4(PTEN):c.-1161_-1160delGGinsAA	KLLN, PTEN	Indel (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736658	NM_000314.4(PTEN):c.-1160G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1734982	NM_000314.4(PTEN):c.-1154G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1734359	NM_000314.4(PTEN):c.-1152C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818430	NM_000314.4(PTEN):c.-1152C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818427	NM_000314.4(PTEN):c.-1151C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818426	NM_000314.4(PTEN):c.-1151C>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2683786	NM_000314.8(PTEN):c.-1151C>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 822248	NM_000314.4(PTEN):c.-1145A>G	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187000	NM_000314.4(PTEN):c.-1145A>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 822240	NM_000314.4(PTEN):c.-1141C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1730126	NM_000314.4(PTEN):c.-1137G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 142892	NM_000314.4(PTEN):c.-1133G>A	KLLN, PTEN	Single nucleotide variant (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 1799026	NM_000314.4(PTEN):c.-1125G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799011	NM_000314.4(PTEN):c.-1125G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799002	NM_000314.4(PTEN):c.-1125G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798680	NM_000314.4(PTEN):c.-1124delG	KLLN, PTEN	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798720	NM_000314.4(PTEN):c.-1124G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 822191	NM_000314.4(PTEN):c.-1108C>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818366	NM_000314.4(PTEN):c.-1103G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 993234	NC_000010.11:g.87863368C>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 822160	NM_000314.4(PTEN):c.-1097G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822158	NM_000314.4(PTEN):c.-1096G>T	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 548816	NM_000314.4(PTEN):c.-1095G>A	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	Cowden syndrome 1	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 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 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 142058	NM_000314.4(PTEN):c.-1083G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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