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 3251580	NM_001126049.2(KLLN):c.-923G>T	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 (inframe insertion)	KLLN-related disorder	GLikely benign
Select item 2627357	NM_001126049.2(KLLN):c.-971A>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2581703	NM_001126049.2(KLLN):c.-1040C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2576894	NM_001126049.2(KLLN):c.-1042G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2573390	NM_001126049.2(KLLN):c.-952G>A	KLLN, LOC130004273 +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_001126049.2(KLLN):c.-1026C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2443674	NM_001126049.2(KLLN):c.-1032C>T	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_001126049.2(KLLN):c.-943_-914del	KLLN, LOC130004273 +1 more	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781334	NM_001126049.2(KLLN):c.-977G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781264	NM_001126049.2(KLLN):c.-977G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780154	NM_001126049.2(KLLN):c.-922G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1776391	NM_001126049.2(KLLN):c.-933G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 1775997	NM_001126049.2(KLLN):c.-934G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1775785	NM_001126049.2(KLLN):c.-935G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1775469	NM_001126049.2(KLLN):c.-936G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1771240	NM_001126049.2(KLLN):c.-951G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1769634	NM_001126049.2(KLLN):c.-956G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768384	NM_001126049.2(KLLN):c.-998G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768282	NM_001126049.2(KLLN):c.-1002G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767981	NM_001126049.2(KLLN):c.-1011A>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767838	NM_001126049.2(KLLN):c.-1013G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767592	NM_001126049.2(KLLN):c.-1021G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767559	NM_001126049.2(KLLN):c.-1022G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767553	NM_001126049.2(KLLN):c.-1022G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767452	NM_001126049.2(KLLN):c.-1025C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1767282	NM_001126049.2(KLLN):c.-1030G>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1761113	NM_001126049.2(KLLN):c.-961G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727437	NM_001126049.2(KLLN):c.-972G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1710863	NM_001126049.2(KLLN):c.-1044C>T	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	NM_001126049.2(KLLN):c.-1034G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1338182	NM_001126049.2(KLLN):c.204C>T (p.Ser68=)	KLLN, LOC130004271 +1 more	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1330035	NM_001126049.2(KLLN):c.-1030G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1318635	NM_001126049.2(KLLN):c.-1002GGAGGCG[1]	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 1262961	NM_001126049.2(KLLN):c.-957G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1204117	NM_001126049.2(KLLN):c.-1035C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1172888	NM_001126049.2(KLLN):c.-1018C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 928674	NM_001126049.2(KLLN):c.-1031G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 823554	NM_001126049.2(KLLN):c.-991G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823486	NM_001126049.2(KLLN):c.-1003G>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823484	NM_001126049.2(KLLN):c.-1003G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823407	NM_001126049.2(KLLN):c.-1013G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823374	NM_001126049.2(KLLN):c.-1021del	KLLN, LOC130004273 +1 more	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823367	NM_001126049.2(KLLN):c.-1022G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823342	NM_001126049.2(KLLN):c.-1025C>T	KLLN, PTEN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822082	NM_001126049.2(KLLN):c.-930G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822066	NM_001126049.2(KLLN):c.-949CAGGG[1]	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822059	NM_001126049.2(KLLN):c.-945G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822019	NM_001126049.2(KLLN):c.-956G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821991	NM_001126049.2(KLLN):c.-977G>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818337	NM_001126049.2(KLLN):c.-902G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818322	NM_001126049.2(KLLN):c.-920G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818307	NM_001126049.2(KLLN):c.-940G>C	LOC130004273, PTEN +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_001126049.2(KLLN):c.-993_-992=	KLLN, LOC130004273 +1 more	Variation (no sequence alteration)	not provided	GUncertain significance
Select item 619911	NM_001126049.2(KLLN):c.-1009A>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503731	NM_001126049.2(KLLN):c.-949CAGGG[5]	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	not specified	GUncertain significance
Select item 503730	NM_001126049.2(KLLN):c.-959GAGGG[3]	KLLN, LOC130004273 +1 more	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 503642	NM_001126049.2(KLLN):c.-1027G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503641	NM_001126049.2(KLLN):c.-987G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503640	NM_001126049.2(KLLN):c.-918A>G	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 503506	NM_001126049.2(KLLN):c.-913G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 495813	NM_001126049.2(KLLN):c.-1046C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 495807	NM_001126049.2(KLLN):c.-924G>C	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 495805	NM_001126049.2(KLLN):c.-963G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 495804	NM_001126049.2(KLLN):c.-972G>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488998	NM_001126049.2(KLLN):c.-1027G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 488937	NM_001126049.2(KLLN):c.-908C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488921	NM_001126049.2(KLLN):c.-899C>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488916	NM_001126049.2(KLLN):c.-1027G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 488909	NM_001126049.2(KLLN):c.-980G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488904	NM_001126049.2(KLLN):c.-912G>A	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 488903	NM_001126049.2(KLLN):c.-1029G>C	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488899	NM_001126049.2(KLLN):c.-907T>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488898	NM_001126049.2(KLLN):c.-908C>G	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488872	NM_001126049.2(KLLN):c.-1009A>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488871	NM_001126049.2(KLLN):c.-925A>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488863	NM_001126049.2(KLLN):c.-990C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488788	NM_001126049.2(KLLN):c.-898G>C	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488767	NM_001126049.2(KLLN):c.-925A>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	PTEN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 488766	NM_001126049.2(KLLN):c.-1037C>G	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 488763	NM_001126049.2(KLLN):c.-1019G>C	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488757	NM_001126049.2(KLLN):c.-997C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488745	NM_001126049.2(KLLN):c.-1042G>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 488735	NM_001126049.2(KLLN):c.-939C>A	KLLN, LOC130004273 +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_001126049.2(KLLN):c.-973G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 422544	NM_001126049.2(KLLN):c.-954G>C	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 421354	NM_001126049.2(KLLN):c.-1037C>T	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 421038	NM_001126049.2(KLLN):c.-1030G>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 420937	NM_001126049.2(KLLN):c.-962G>A	LOC130004273, KLLN +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 420852	NM_001126049.2(KLLN):c.-1017C>T	KLLN, LOC130004273 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance

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