"GeneDx"[submitter] AND "LOC130004273"[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 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
Select item 138836	NM_001126049.2(KLLN):c.-956G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 1262961	NC_000010.11:g.87863444C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 420937	NM_000314.6(PTEN):c.-1020C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 189477	NM_000314.6(PTEN):c.-1013G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488909	NM_000314.6(PTEN):c.-1002C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 234862	NM_000314.6(PTEN):c.-997dup	KLLN, LOC130004273 +1 more	Duplication (5 prime UTR variant)	not provided	GUncertain significance
Select item 142906	NM_000314.6(PTEN):c.-994_-984dup	KLLN, LOC130004273 +1 more	Duplication (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 234888	NM_000314.6(PTEN):c.-997C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503641	NM_000314.6(PTEN):c.-995C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1318635	NC_000010.11:g.87863477GCCTCCC[1]	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 127686	NM_000314.6(PTEN):c.-993C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488863	NM_000314.6(PTEN):c.-992G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189478	NM_000314.6(PTEN):c.-989T>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 419799	NM_000314.6(PTEN):c.-988C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 234400	NM_001126049.2(KLLN):c.-996G>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488757	NM_000314.6(PTEN):c.-985G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 418432	NM_000314.6(PTEN):c.-975G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 127685	NM_000314.6(PTEN):c.-975G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 127684	NM_000314.6(PTEN):c.-975G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 488872	NM_000314.6(PTEN):c.-973T>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 141249	NM_000314.6(PTEN):c.-972C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 420852	NM_000314.6(PTEN):c.-965G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488763	NM_000314.6(PTEN):c.-963C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2506740	NM_000314.6(PTEN):c.-956G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 189523	NM_000314.6(PTEN):c.-956G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503642	NM_000314.6(PTEN):c.-955C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488998	NM_000314.6(PTEN):c.-955C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 488916	NM_000314.6(PTEN):c.-955C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 488903	NM_000314.6(PTEN):c.-953C>G	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 421038	NM_000314.6(PTEN):c.-952C>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2443674	NM_000314.6(PTEN):c.-950G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1342809	NC_000010.11:g.87863521C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1204117	NC_000010.11:g.87863522G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 234529	NM_001126049.2(KLLN):c.-1036G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 488766	NM_000314.6(PTEN):c.-945G>C	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 421354	NM_000314.6(PTEN):c.-945G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 127682	NM_000314.6(PTEN):c.-943C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 189490	NM_000314.6(PTEN):c.-942G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2576894	NM_000314.6(PTEN):c.-940C>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488745	NM_000314.6(PTEN):c.-940C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1710863	NM_000314.6(PTEN):c.-938G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 187183	NM_000314.6(PTEN):c.-934G>C	LOC130004273, PTEN	Single nucleotide variant	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 503643	NM_000314.6(PTEN):c.-933G>C	LOC130004273, PTEN	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 488718	NM_000314.6(PTEN):c.-932G>A	LOC130004273, PTEN	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 488719	NM_000314.6(PTEN):c.-929G>A	LOC130004273, PTEN	Single nucleotide variant	not provided +2 more	GUncertain significance
Select item 488759	NM_000314.6(PTEN):c.-927C>T	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 488765	NM_000314.6(PTEN):c.-925G>A	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 189491	NM_000314.6(PTEN):c.-923C>T	LOC130004273, PTEN	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 449087	NM_000314.6(PTEN):c.-921G>C	LOC130004273, PTEN	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 189492	NM_000314.6(PTEN):c.-920G>A	LOC130004273, PTEN	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 419934	NM_000314.6(PTEN):c.-918G>A	LOC130004273, PTEN	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 3369977	NM_000314.6(PTEN):c.-916G>T	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 1318545	NC_000010.11:g.87863553G>C	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 1204126	NC_000010.11:g.87863553G>A	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 1216522	NC_000010.11:g.87863554C>A	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 488750	NM_000314.6(PTEN):c.-915C>T	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 3369167	NM_000314.6(PTEN):c.-914G>A	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 488943	NM_000314.6(PTEN):c.-914G>C	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 488720	NM_000314.6(PTEN):c.-912T>C	LOC130004273, PTEN	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 1804622	NM_000314.6(PTEN):c.-911G>A	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 488768	NM_000314.8(PTEN):c.-910T>G	LOC130004273, PTEN	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 127681	NM_000314.8(PTEN):c.-910T>C	LOC130004273, PTEN	Single nucleotide variant	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 189436	NM_000314.6(PTEN):c.-903_-882dup	LOC130004273, PTEN	Duplication	not specified +1 more	GUncertain significance
Select item 127680	NM_000314.6(PTEN):c.-907T>G	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 822982	NM_000314.6(PTEN):c.-906G>C	LOC130004273, PTEN	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 503732	NM_000314.6(PTEN):c.-901_-883dup	LOC130004273, PTEN	Duplication	not provided	GUncertain significance
Select item 422946	NM_000314.6(PTEN):c.-906G>A	LOC130004273, PTEN	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 3372886	NM_000314.6(PTEN):c.-904C>T	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance
Select item 503734	NM_000314.6(PTEN):c.-904_-903delCGinsGA	LOC130004273, PTEN	Indel	not provided	GUncertain significance
Select item 127679	NM_000314.6(PTEN):c.-904C>A	LOC130004273, PTEN	Single nucleotide variant	not provided	GUncertain significance

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