ClinVar Miner

List of variants reported as benign for PTEN hamartoma tumor syndrome by Invitae

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NC_000010.10:g.(?_89720598)_(89720635_?)del38
NM_000314.6(PTEN):c.802-3dupT rs34003473
NM_000314.7(PTEN):c.*75del rs878853930
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.492+14dup rs1064793690
NM_000314.7(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.802-3del rs34003473
NM_001126049.1(KLLN):c.-897A>G rs869312983
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_005163.2(AKT1):c.1020C>T (p.Tyr340=) rs144088506
NM_005163.2(AKT1):c.1032C>T (p.Cys344=) rs56289559
NM_005163.2(AKT1):c.1179C>T (p.Gly393=) rs11555434
NM_005163.2(AKT1):c.1251C>T (p.Tyr417=) rs139297659
NM_005163.2(AKT1):c.1389C>T (p.Ser463=) rs144112075
NM_005163.2(AKT1):c.432C>T (p.Arg144=) rs17846825
NM_005163.2(AKT1):c.558C>T (p.Ile186=) rs34670300
NM_005163.2(AKT1):c.604C>T (p.Leu202=) rs2230506
NM_005163.2(AKT1):c.807C>T (p.Asn269=) rs201044857
NM_005163.2(AKT1):c.958-6G>A rs199770031
NM_005163.2(AKT1):c.958-7C>T rs369048965
NM_006218.4(PIK3CA):c.*29T>C rs141178472
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=) rs137902538
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg) rs181194055
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988

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