ClinVar Miner

List of variants studied for PTEN hamartoma tumor syndrome by Mendelics

Included ClinVar conditions (20):
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Total variants: 84
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HGVS dbSNP
NM_000314.4(PTEN):c.-1242G>A rs587779985
NM_000314.4(PTEN):c.-845A>C rs786204861
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-920G>A rs786204937
NM_000314.6(PTEN):c.802-3dupT rs34003473
NM_000314.7(PTEN):c.-481_-473del rs1226857287
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-801G>A rs876661166
NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.7(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.7(PTEN):c.592_594ATG[1] (p.Met199del) rs1064793244
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.*3448_*3463dup
NM_000314.8(PTEN):c.*3449_*3463dup
NM_000314.8(PTEN):c.-280C>T
NM_000314.8(PTEN):c.-701G>A rs1554890059
NM_000314.8(PTEN):c.1016C>A (p.Pro339Gln) rs1564568679
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.209+84G>A
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.254-23C>T
NM_000314.8(PTEN):c.254-26A>T
NM_000314.8(PTEN):c.254-29C>T
NM_000314.8(PTEN):c.254-34T>G
NM_000314.8(PTEN):c.256G>A (p.Ala86Thr) rs1564829780
NM_000314.8(PTEN):c.492+31T>C
NM_000314.8(PTEN):c.493-27G>T
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.802-34C>A
NM_000314.8(PTEN):c.802-5_802-3del rs34003473
NM_000314.8(PTEN):c.802-5_802-3dup
NM_000314.8(PTEN):c.810G>T (p.Met270Ile) rs1195369834
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn) rs758644748
NM_000314.8(PTEN):c.94_96ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA (p.Thr319delinsIleTer)
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_001126049.1(KLLN):c.-956G>T rs34149102
NM_001126049.1(KLLN):c.316C>A (p.Pro106Thr)
NM_003000.2(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350
NM_003000.3(SDHB):c.200+7A>G rs371329778
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.3(SDHB):c.540+11C>T rs1160578491
NM_003000.3(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_003000.3(SDHB):c.769C>G (p.Leu257Val) rs761350633
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_005163.2(AKT1):c.1172+4A>C
NM_005163.2(AKT1):c.1361A>G (p.Gln454Arg) rs759702315
NM_005163.2(AKT1):c.138C>A (p.Asp46Glu) rs146875699
NM_005163.2(AKT1):c.1390G>A (p.Glu464Lys) rs745803788
NM_005163.2(AKT1):c.176-5C>A rs377076374
NM_005163.2(AKT1):c.288-3C>T rs61761189
NM_005163.2(AKT1):c.356A>G (p.Asp119Gly) rs1566818099
NM_005163.2(AKT1):c.406G>A (p.Val136Met) rs778376616
NM_005163.2(AKT1):c.570C>T (p.Asp190=) rs780207480
NM_005163.2(AKT1):c.726G>A (p.Glu242=) rs1130233
NM_006218.4(PIK3CA):c.-138C>T
NM_006218.4(PIK3CA):c.1060-9T>C
NM_006218.4(PIK3CA):c.1146-30G>A
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln)
NM_006218.4(PIK3CA):c.2016-12C>T
NM_006218.4(PIK3CA):c.2016-29A>T
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279

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