Related gene-specific medical variations for Gene (Select 100144748) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354440	NC_000010.11:g.87863409C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder	GLikely benign
Select item 3339548	NM_000314.8(PTEN):c.-1002C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3251580	NM_000314.8(PTEN):c.-1060C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3115901	NM_001126049.2(KLLN):c.206T>C (p.Leu69Pro)	KLLN, LOC130004271 (L69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115900	NM_001126049.2(KLLN):c.154G>A (p.Asp52Asn)	KLLN, LOC130004271 (D52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046404	NM_001126049.2(KLLN):c.294_295insGGT (p.Trp98_Cys99insGly)	KLLN, LOC130004270	Insertion	KLLN-related disorder	GLikely benign
Select item 2627357	NM_000314.8(PTEN):c.-1012T>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2581703	NM_000314.6(PTEN):c.-942G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2576894	NM_000314.6(PTEN):c.-940C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2573390	NM_000314.6(PTEN):c.-1030C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2532475	NM_001126049.2(KLLN):c.191G>A (p.Arg64Lys)	KLLN, LOC130004271 (R64K)	Single nucleotide variant (missense variant)	not specified	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 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 2433170	NM_001126049.2(KLLN):c.184C>G (p.Arg62Gly)	KLLN, LOC130004271 (R62G)	Single nucleotide variant (missense variant)	Cowden syndrome 4	GUncertain significance
Select item 2353049	NM_001126049.2(KLLN):c.167C>G (p.Thr56Arg)	KLLN, LOC130004271 (T56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253313	NM_001126049.2(KLLN):c.296G>A (p.Cys99Tyr)	KLLN, LOC130004270 (C99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221173	NM_001126049.2(KLLN):c.182T>G (p.Phe61Cys)	KLLN, LOC130004271 (F61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1782043	NM_000314.4(PTEN):c.-1067_-1038del30	KLLN, LOC130004273 +1 more	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781334	NM_000314.6(PTEN):c.-1005C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781264	NM_000314.6(PTEN):c.-1005C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780154	NM_000314.4(PTEN):c.-1060C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1776391	NM_000314.4(PTEN):c.-1049C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 1775997	NM_000314.4(PTEN):c.-1048C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1775785	NM_000314.4(PTEN):c.-1047C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1775469	NM_000314.4(PTEN):c.-1046C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1771240	NM_000314.6(PTEN):c.-1031C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1769634	NM_000314.6(PTEN):c.-1026C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768384	NM_000314.6(PTEN):c.-984C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768282	NM_000314.6(PTEN):c.-980C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767981	NM_000314.6(PTEN):c.-971T>G	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767838	NM_000314.6(PTEN):c.-969C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767592	NM_000314.6(PTEN):c.-961C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767559	NM_000314.6(PTEN):c.-960C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767553	NM_000314.6(PTEN):c.-960C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767452	NM_000314.6(PTEN):c.-957G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767282	NM_000314.6(PTEN):c.-952C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1761113	NM_000314.6(PTEN):c.-1021C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727437	NM_000314.6(PTEN):c.-1010C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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 1683532	NM_001126049.2(KLLN):c.226T>C (p.Phe76Leu)	KLLN, LOC130004271 (F76L)	Single nucleotide variant (missense variant)	Cowden syndrome 4	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 1338182	NM_000314.8(PTEN):c.-2186G>A	KLLN, LOC130004271 +1 more	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1330035	NM_000314.6(PTEN):c.-952C>G	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 1262961	NC_000010.11:g.87863444C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 1172888	NM_000314.6(PTEN):c.-964G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 928674	NM_000314.6(PTEN):c.-951C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 823554	NM_000314.6(PTEN):c.-991C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823486	NM_000314.6(PTEN):c.-979C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823484	NM_000314.6(PTEN):c.-979C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823407	NM_000314.6(PTEN):c.-969C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823374	NM_000314.6(PTEN):c.-959delC	KLLN, LOC130004273 +1 more	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823367	NM_000314.6(PTEN):c.-960C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823342	NM_000314.6(PTEN):c.-957G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822082	NM_000314.4(PTEN):c.-1052C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822066	NM_000314.4(PTEN):c.-1039_-1030del10	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822059	NM_000314.4(PTEN):c.-1037C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822019	NM_000314.6(PTEN):c.-1026C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821991	NM_000314.6(PTEN):c.-1005C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818337	NM_000314.4(PTEN):c.-1080C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818322	NM_000314.4(PTEN):c.-1062C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818307	NM_000314.4(PTEN):c.-1042C>G	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 802601	NM_001126049.2(KLLN):c.316C>A (p.Pro106Thr)	KLLN, LOC130004270 (P106T)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance
Select item 801276	NM_000314.6(PTEN):c.-990_-989CT=	KLLN, LOC130004273 +1 more	Variation (no sequence alteration)	not provided	GUncertain significance
Select item 619911	NM_000314.6(PTEN):c.-973T>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	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 503730	NC_000010.11:g.87863437CCCTC[3]	KLLN, LOC130004273 +1 more	Microsatellite (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 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 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 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 495813	NM_000314.6(PTEN):c.-936G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 495807	NM_000314.4(PTEN):c.-1058C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 495805	NM_000314.6(PTEN):c.-1019C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 495804	NM_000314.6(PTEN):c.-1010C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	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 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 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 488916	NM_000314.6(PTEN):c.-955C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488909	NM_000314.6(PTEN):c.-1002C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488904	NM_000314.4(PTEN):c.-1070C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488903	NM_000314.6(PTEN):c.-953C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	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 488898	NM_000314.4(PTEN):c.-1074G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 488871	NM_000314.4(PTEN):c.-1057T>G	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488863	NM_000314.6(PTEN):c.-992G>C	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488788	NC_000010.11:g.87863385C>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 488766	NM_000314.6(PTEN):c.-945G>C	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	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 488745	NM_000314.6(PTEN):c.-940C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488735	NM_000314.4(PTEN):c.-1043G>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 445578	NM_001126049.2(KLLN):c.137T>G (p.Phe46Cys)	KLLN (F46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439284	NM_000314.6(PTEN):c.-1009C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +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)	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 421038	NM_000314.6(PTEN):c.-952C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance

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