Full data view for gene ANGPTL3

Information The variants shown are described using the NM_014495.2 transcript reference sequence.

133 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-61C>T r.(?) p.(=) Unknown - likely benign g.63063177C>T g.62597506C>T ANGPTL3(NM_014495.4):c.-61C>T - ANGPTL3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14A>C r.(?) p.(=) Unknown - likely benign g.63063224A>C g.62597553A>C ANGPTL3(NM_014495.4):c.-14A>C, DOCK7(NM_001271999.2):c.1683-10929T>G - ANGPTL3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16C>G r.(?) p.(Leu6Val) Unknown - VUS g.63063253C>G - ANGPTL3(NM_014495.4):c.16C>G (p.L6V), DOCK7(NM_001367561.1):c.1683-10958G>C - ANGPTL3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42T>G r.(?) p.(Val14=) Unknown - likely benign g.63063279T>G g.62597608T>G ANGPTL3(NM_014495.4):c.42T>G (p.V14=), DOCK7(NM_001271999.2):c.1683-10984A>C - ANGPTL3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63A>C r.(?) p.(Gln21His) Unknown - likely benign g.63063300A>C g.62597629A>C ANGPTL3(NM_014495.4):c.63A>C (p.Q21H), DOCK7(NM_001271999.2):c.1683-11005T>G - ANGPTL3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73T>C r.(?) p.(Ser25Pro) Unknown - likely benign g.63063310T>C g.62597639T>C ANGPTL3(NM_014495.4):c.73T>C (p.S25P), DOCK7(NM_001367561.1):c.1683-11015A>G - ANGPTL3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76T>C r.(?) p.(Phe26Leu) Unknown - VUS g.63063313T>C - ANGPTL3(NM_014495.4):c.76T>C (p.F26L), DOCK7(NM_001367561.1):c.1683-11018A>G - ANGPTL3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94G>C r.(?) p.(Glu32Gln) Unknown - VUS g.63063331G>C g.62597660G>C ANGPTL3(NM_014495.4):c.94G>C (p.E32Q), DOCK7(NM_001367561.1):c.1683-11036C>G - ANGPTL3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102A>G r.(?) p.(Lys34=) Unknown - benign g.63063339A>G g.62597668A>G ANGPTL3(NM_014495.4):c.102A>G (p.K34=), DOCK7(NM_001271999.2):c.1683-11044T>C - ANGPTL3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118T>C r.(?) p.(Leu40=) Unknown - likely benign g.63063355T>C - ANGPTL3(NM_014495.4):c.118T>C (p.L40=), DOCK7(NM_001367561.1):c.1683-11060A>G - ANGPTL3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123C>T r.(?) p.(=) Unknown - likely benign g.63063360C>T - ANGPTL3(NM_014495.4):c.123C>T (p.D41=) - ANGPTL3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124G>A r.(?) p.(Asp42Asn) Unknown - VUS g.63063361G>A - ANGPTL3(NM_014495.4):c.124G>A (p.D42N), DOCK7(NM_001367561.1):c.1683-11066C>T - ANGPTL3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126T>C r.(?) p.(Asp42=) Unknown - likely benign g.63063363T>C g.62597692T>C ANGPTL3(NM_014495.4):c.126T>C (p.D42=), DOCK7(NM_001367561.1):c.1683-11068A>G - ANGPTL3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>G r.(?) p.(Ala47Gly) Unknown - VUS g.63063377C>G - ANGPTL3(NM_014495.4):c.140C>G (p.A47G), DOCK7(NM_001367561.1):c.1683-11082G>C - ANGPTL3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.188A>C r.(?) p.(Lys63Thr) Unknown - likely pathogenic g.63063425A>C g.62597754A>C ANGPTL3(NM_014495.4):c.188A>C (p.K63T), DOCK7(NM_001271999.2):c.1683-11130T>G - ANGPTL3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.191C>T r.(?) p.(Thr64Met) Unknown - likely benign g.63063428C>T g.62597757C>T ANGPTL3(NM_014495.4):c.191C>T (p.T64M), DOCK7(NM_001367561.1):c.1683-11133G>A - ANGPTL3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212T>C r.(?) p.(Ile71Thr) Unknown - VUS g.63063449T>C - ANGPTL3(NM_014495.4):c.212T>C (p.I71T), DOCK7(NM_001367561.1):c.1683-11154A>G - ANGPTL3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223C>T r.(?) p.(Leu75Phe) Unknown - VUS g.63063460C>T g.62597789C>T ANGPTL3(NM_014495.4):c.223C>T (p.L75F), DOCK7(NM_001367561.1):c.1683-11165G>A - ANGPTL3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.228C>A r.(?) p.(Asn76Lys) Unknown - VUS g.63063465C>A - ANGPTL3(NM_014495.4):c.228C>A (p.N76K), DOCK7(NM_001367561.1):c.1683-11170G>T - ANGPTL3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>G r.(?) p.(Asn76Lys) Unknown - likely benign g.63063465C>G g.62597794C>G ANGPTL3(NM_014495.4):c.228C>G (p.N76K), DOCK7(NM_001271999.2):c.1683-11170G>C - ANGPTL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233T>G r.(?) p.(Phe78Cys) Unknown - VUS g.63063470T>G - ANGPTL3(NM_014495.4):c.233T>G (p.F78C), DOCK7(NM_001367561.1):c.1683-11175A>C - ANGPTL3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243T>C r.(?) p.(Ser81=) Unknown - likely benign g.63063480T>C g.62597809T>C ANGPTL3(NM_014495.4):c.243T>C (p.S81=), DOCK7(NM_001367561.1):c.1683-11185A>G - ANGPTL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261G>T r.(?) p.(Leu87=) Unknown - benign g.63063498G>T g.62597827G>T ANGPTL3(NM_014495.4):c.261G>T (p.L87=), DOCK7(NM_001271999.2):c.1683-11203C>A - ANGPTL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.264A>C r.(?) p.(Gln88His) Unknown - VUS g.63063501A>C - ANGPTL3(NM_014495.4):c.264A>C (p.Q88H), DOCK7(NM_001367561.1):c.1683-11206T>G - ANGPTL3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272A>G r.(?) p.(Glu91Gly) Unknown - VUS g.63063509A>G g.62597838A>G ANGPTL3(NM_014495.4):c.272A>G (p.E91G), DOCK7(NM_001367561.1):c.1683-11214T>C - ANGPTL3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278A>G r.(?) p.(Lys93Arg) Unknown - VUS g.63063515A>G - ANGPTL3(NM_014495.4):c.278A>G (p.K93R), DOCK7(NM_001367561.1):c.1683-11220T>C - ANGPTL3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.283G>C r.(?) p.(Glu95Gln) Unknown - VUS g.63063520G>C - ANGPTL3(NM_014495.4):c.283G>C (p.E95Q), DOCK7(NM_001367561.1):c.1683-11225C>G - ANGPTL3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.286_288del r.(?) p.(Glu96del) Unknown - likely benign g.63063523_63063525del g.62597852_62597854del ANGPTL3(NM_014495.4):c.286_288delGAA (p.E96del), DOCK7(NM_001271999.2):c.1683-11222_1683-11220delCTT - ANGPTL3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293A>G r.(?) p.(Glu98Gly) Unknown - VUS g.63063530A>G - ANGPTL3(NM_014495.4):c.293A>G (p.E98G), DOCK7(NM_001367561.1):c.1683-11235T>C - ANGPTL3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.346_347del r.(?) p.(Met116Valfs*3) Unknown - pathogenic g.63063583_63063584del - ANGPTL3(NM_014495.4):c.346_347delAT (p.M116Vfs*3), DOCK7(NM_001367561.1):c.1683-11287_1683-11286delAT - ANGPTL3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361A>C r.(?) p.(Asn121His) Unknown - VUS g.63063598A>C g.62597927A>C ANGPTL3(NM_014495.4):c.361A>C (p.N121H), DOCK7(NM_001367561.1):c.1683-11303T>G - ANGPTL3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.363_367del r.(?) p.(Asn121LysfsTer3) Unknown - pathogenic g.63063600_63063604del g.62597929_62597933del ANGPTL3(NM_014495.4):c.363_367delCTCAA (p.N121Kfs*3), DOCK7(NM_001271999.2):c.1683-11302_1683-11298delGAGTT - ANGPTL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.379C>T r.(?) p.(Leu127Phe) Unknown - likely benign g.63063616C>T g.62597945C>T ANGPTL3(NM_014495.4):c.379C>T (p.L127F), DOCK7(NM_001271999.2):c.1683-11321G>A - ANGPTL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.387A>T r.(?) p.(Glu129Asp) Unknown - VUS g.63063624A>T - ANGPTL3(NM_014495.4):c.387A>T (p.E129D), DOCK7(NM_001367561.1):c.1683-11329T>A - ANGPTL3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.424G>T r.(?) p.(Glu142Ter) Unknown - likely pathogenic g.63063661G>T g.62597990G>T ANGPTL3(NM_014495.4):c.424G>T (p.E142*), DOCK7(NM_001271999.2):c.1683-11366C>A - ANGPTL3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.438dup r.(?) p.(Asn147*) Unknown - pathogenic g.63063675dup - ANGPTL3(NM_014495.4):c.438dupT (p.N147*), DOCK7(NM_001367561.1):c.1683-11380dupA - ANGPTL3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.439_442del r.(?) p.(Asn147Ter) Unknown - pathogenic g.63063676_63063679del g.62598005_62598008del ANGPTL3(NM_014495.4):c.439_442delAACT (p.N147*), DOCK7(NM_001271999.2):c.1683-11376_1683-11373delAGTT - ANGPTL3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.439_442del r.(?) p.(Asn147Ter) Unknown - pathogenic g.63063676_63063679del - ANGPTL3(NM_014495.4):c.439_442delAACT (p.N147*), DOCK7(NM_001271999.2):c.1683-11376_1683-11373delAGTT - ANGPTL3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.451A>G r.(?) p.(Asn151Asp) Unknown - likely benign g.63063688A>G g.62598017A>G ANGPTL3(NM_014495.4):c.451A>G (p.N151D), DOCK7(NM_001271999.2):c.1683-11393T>C - ANGPTL3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477A>G r.(?) p.(=) Unknown - likely benign g.63063714A>G - ANGPTL3(NM_014495.4):c.477A>G (p.P159=), DOCK7(NM_001367561.1):c.1683-11419T>C - ANGPTL3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483A>G r.(?) p.(Val161=) Unknown - likely benign g.63063720A>G - ANGPTL3(NM_014495.4):c.483A>G (p.V161=), DOCK7(NM_001367561.1):c.1683-11425T>C - ANGPTL3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493A>G r.(?) p.(Lys165Glu) Unknown - VUS g.63063730A>G - ANGPTL3(NM_014495.4):c.493A>G (p.K165E), DOCK7(NM_001367561.1):c.1683-11435T>C - ANGPTL3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.495+4_495+7del r.spl? p.? Unknown - likely pathogenic g.63063736_63063739del g.62598065_62598068del ANGPTL3(NM_014495.4):c.494_495+2delAAGT, DOCK7(NM_001271999.2):c.1683-11439_1683-11436delACTT - ANGPTL3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.495+6T>C r.(=) p.(=) Unknown - VUS g.63063738T>C g.62598067T>C ANGPTL3(NM_014495.4):c.495+6T>C, DOCK7(NM_001271999.2):c.1683-11443A>G, DOCK7(NM_001367561.1):c.1683-11443A>G - ANGPTL3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495+98T>C r.(=) p.(=) Unknown - likely benign g.63063830T>C g.62598159T>C ANGPTL3(NM_014495.4):c.495+98T>C - ANGPTL3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.496-17_496-14del r.(=) p.(=) Unknown - benign g.63064350_63064353del g.62598679_62598682del ANGPTL3(NM_014495.4):c.496-17_496-14delCTAC, DOCK7(NM_001271999.2):c.1683-12056_1683-12053delAGGT - ANGPTL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.503T>C r.(?) p.(Val168Ala) Unknown - likely pathogenic g.63064374T>C g.62598703T>C ANGPTL3(NM_014495.4):c.503T>C (p.V168A), DOCK7(NM_001271999.2):c.1683-12079A>G - ANGPTL3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.515A>G r.(?) p.(Asp172Gly) Unknown - VUS g.63064386A>G - ANGPTL3(NM_014495.4):c.515A>G (p.D172G), DOCK7(NM_001367561.1):c.1683-12091T>C - ANGPTL3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543C>T r.(?) p.(Thr181=) Unknown - likely benign g.63064414C>T g.62598743C>T ANGPTL3(NM_014495.4):c.543C>T (p.T181=), DOCK7(NM_001271999.2):c.1683-12119G>A - ANGPTL3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544G>A r.(?) p.(Val182Met) Unknown - VUS g.63064415G>A g.62598744G>A ANGPTL3(NM_014495.4):c.544G>A (p.V182M), DOCK7(NM_001271999.2):c.1683-12120C>T - ANGPTL3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558T>C r.(?) p.(Tyr186=) Unknown - likely benign g.63064429T>C g.62598758T>C ANGPTL3(NM_014495.4):c.558T>C (p.Y186=), DOCK7(NM_001367561.1):c.1683-12134A>G - ANGPTL3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.565T>C r.(?) p.(Leu189=) Unknown - benign g.63064436T>C g.62598765T>C ANGPTL3(NM_014495.4):c.565T>C (p.L189=), DOCK7(NM_001271999.2):c.1683-12141A>G - ANGPTL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.573del r.(?) p.(Gln191HisfsTer6) Unknown - likely pathogenic g.63064444del g.62598773del ANGPTL3(NM_014495.4):c.573delA (p.Q191Hfs*6), DOCK7(NM_001271999.2):c.1683-12148delT - ANGPTL3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.574C>T r.(?) p.(Gln192*) Unknown - likely pathogenic g.63064445C>T - ANGPTL3(NM_014495.4):c.574C>T (p.Q192*), DOCK7(NM_001367561.1):c.1683-12150G>A - ANGPTL3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579T>C r.(?) p.(His193=) Unknown - benign g.63064450T>C g.62598779T>C ANGPTL3(NM_014495.4):c.579T>C (p.H193=), DOCK7(NM_001271999.2):c.1683-12155A>G - ANGPTL3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596T>C r.(?) p.(Ile199Thr) Unknown - VUS g.63064467T>C g.62598796T>C ANGPTL3(NM_014495.4):c.596T>C (p.I199T), DOCK7(NM_001271999.2):c.1683-12172A>G - ANGPTL3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.606+19G>A r.(=) p.(=) Unknown - likely benign g.63064496G>A - ANGPTL3(NM_014495.4):c.606+19G>A, DOCK7(NM_001367561.1):c.1683-12201C>T - ANGPTL3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.606+123del r.(=) p.(=) Unknown - likely benign g.63064600del g.62598929del ANGPTL3(NM_014495.4):c.606+123delT, DOCK7(NM_001271999.2):c.1683-12304delA - ANGPTL3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.607-109T>C r.(=) p.(=) Unknown - benign g.63066644T>C g.62600973T>C ANGPTL3(NM_014495.4):c.607-109T>C, DOCK7(NM_001271999.2):c.1683-14349A>G - ANGPTL3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648A>G r.(?) p.(Leu216=) Unknown - likely benign g.63066794A>G - ANGPTL3(NM_014495.4):c.648A>G (p.L216=), DOCK7(NM_001367561.1):c.1683-14499T>C - ANGPTL3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664G>A r.(?) p.(Ala222Thr) Unknown - VUS g.63066810G>A - ANGPTL3(NM_014495.4):c.664G>A (p.A222T), DOCK7(NM_001367561.1):c.1683-14515C>T - ANGPTL3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.691T>C r.(?) p.(Leu231=) Unknown - likely benign g.63066837T>C g.62601166T>C ANGPTL3(NM_014495.4):c.691T>C (p.L231=), DOCK7(NM_001367561.1):c.1683-14542A>G - ANGPTL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.704_707del r.(?) p.(Arg235MetfsTer2) Unknown - pathogenic g.63066850_63066853del g.62601179_62601182del ANGPTL3(NM_014495.4):c.704_707delGAAA (p.R235Mfs*2) - ANGPTL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.721+10T>G r.(=) p.(=) Unknown - likely benign g.63066877T>G g.62601206T>G ANGPTL3(NM_014495.4):c.721+10T>G, DOCK7(NM_001271999.2):c.1683-14582A>C - ANGPTL3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.721+19T>C r.(=) p.(=) Unknown - likely benign g.63066886T>C - ANGPTL3(NM_014495.4):c.721+19T>C, DOCK7(NM_001367561.1):c.1683-14591A>G - ANGPTL3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.722G>C r.(?) p.(Gly241Ala) Unknown - likely benign g.63067440G>C g.62601769G>C ANGPTL3(NM_014495.4):c.722G>C (p.G241A), DOCK7(NM_001271999.2):c.1683-15145C>G - ANGPTL3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757G>T r.(?) p.(Gly253Cys) Unknown - VUS g.63067475G>T g.62601804G>T ANGPTL3(NM_014495.4):c.757G>T (p.G253C), DOCK7(NM_001271999.2):c.1683-15180C>A - ANGPTL3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757G>T r.(?) p.(Gly253Cys) Unknown - VUS g.63067475G>T - ANGPTL3(NM_014495.4):c.757G>T (p.G253C), DOCK7(NM_001271999.2):c.1683-15180C>A - ANGPTL3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.766A>G r.(?) p.(Thr256Ala) Unknown - benign g.63067484A>G g.62601813A>G ANGPTL3(NM_014495.4):c.766A>G (p.T256A), DOCK7(NM_001271999.2):c.1683-15189T>C - ANGPTL3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.776T>C r.(?) p.(Met259Thr) Unknown - benign g.63067494T>C g.62601823T>C ANGPTL3(NM_014495.4):c.776T>C (p.M259T), DOCK7(NM_001271999.2):c.1683-15199A>G - ANGPTL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776T>G r.(?) p.(Met259Arg) Unknown - likely benign g.63067494T>G g.62601823T>G ANGPTL3(NM_014495.4):c.776T>G (p.M259R), DOCK7(NM_001367561.1):c.1683-15199A>C - ANGPTL3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778T>C r.(?) p.(Tyr260His) Unknown - VUS g.63067496T>C g.62601825T>C ANGPTL3(NM_014495.4):c.778T>C (p.Y260H), DOCK7(NM_001367561.1):c.1683-15201A>G - ANGPTL3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.785T>C r.(?) p.(Ile262Thr) Unknown - likely benign g.63067503T>C - ANGPTL3(NM_014495.4):c.785T>C (p.I262T), DOCK7(NM_001367561.1):c.1683-15208A>G - ANGPTL3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789A>T r.(?) p.(Arg263Ser) Unknown - likely benign g.63067507A>T g.62601836A>T ANGPTL3(NM_014495.4):c.789A>T (p.R263S), DOCK7(NM_001271999.2):c.1683-15212T>A - ANGPTL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.793A>G r.(?) p.(Ser265Gly) Unknown - likely benign g.63067511A>G - ANGPTL3(NM_014495.4):c.793A>G (p.S265G), DOCK7(NM_001367561.1):c.1683-15216T>C - ANGPTL3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.795C>G r.(?) p.(Ser265Arg) Unknown - VUS g.63067513C>G g.62601842C>G ANGPTL3(NM_014495.4):c.795C>G (p.S265R), DOCK7(NM_001271999.2):c.1683-15218G>C - ANGPTL3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801T>C r.(?) p.(Ser267=) Unknown - likely benign g.63067519T>C g.62601848T>C ANGPTL3(NM_014495.4):c.801T>C (p.S267=), DOCK7(NM_001271999.2):c.1683-15224A>G - ANGPTL3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.835+13T>A r.(=) p.(=) Unknown - likely benign g.63067566T>A - ANGPTL3(NM_014495.4):c.835+13T>A, DOCK7(NM_001367561.1):c.1683-15271A>T - ANGPTL3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.835+13T>C r.(=) p.(=) Unknown - likely benign g.63067566T>C - ANGPTL3(NM_014495.4):c.835+13T>C, DOCK7(NM_001367561.1):c.1683-15271A>G - ANGPTL3_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.835+14A>G r.(=) p.(=) Unknown - likely benign g.63067567A>G g.62601896A>G ANGPTL3(NM_014495.4):c.835+14A>G, DOCK7(NM_001271999.2):c.1683-15272T>C - ANGPTL3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.863G>A r.(?) p.(Arg288Gln) Unknown - VUS g.63067983G>A - ANGPTL3(NM_014495.4):c.863G>A (p.R288Q), DOCK7(NM_001367561.1):c.1683-15688C>T - ANGPTL3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.868G>C r.(?) p.(Asp290His) Unknown - VUS g.63067988G>C - ANGPTL3(NM_014495.4):c.868G>C (p.D290H), DOCK7(NM_001367561.1):c.1683-15693C>G - ANGPTL3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.871G>A r.(?) p.(Gly291Arg) Unknown - pathogenic g.63067991G>A g.62602320G>A ANGPTL3(NM_014495.4):c.871G>A (p.G291R), DOCK7(NM_001271999.2):c.1683-15696C>T - ANGPTL3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887A>G r.(?) p.(Asn296Ser) Unknown - VUS g.63068007A>G - ANGPTL3(NM_014495.4):c.887A>G (p.N296S), DOCK7(NM_001367561.1):c.1683-15712T>C - ANGPTL3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.893C>T r.(?) p.(Thr298Met) Unknown - VUS g.63068013C>T - ANGPTL3(NM_014495.4):c.893C>T (p.T298M), DOCK7(NM_001367561.1):c.1683-15718G>A - ANGPTL3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.894G>A r.(?) p.(Thr298=) Unknown - likely benign g.63068014G>A - ANGPTL3(NM_014495.4):c.894G>A (p.T298=), DOCK7(NM_001367561.1):c.1683-15719C>T - ANGPTL3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.906C>A r.(?) p.(Tyr302*) Unknown - likely pathogenic g.63068026C>A - ANGPTL3(NM_014495.4):c.906C>A (p.Y302*), DOCK7(NM_001367561.1):c.1683-15731G>T - ANGPTL3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.931+94C>T r.(=) p.(=) Unknown - benign g.63068145C>T g.62602474C>T ANGPTL3(NM_014495.4):c.931+94C>T, DOCK7(NM_001271999.2):c.1683-15850G>A - ANGPTL3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.931+244C>A r.(=) p.(=) Unknown - benign g.63068295C>A g.62602624C>A ANGPTL3(NM_014495.4):c.931+244C>A, DOCK7(NM_001271999.2):c.1683-16000G>T - ANGPTL3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931+248G>A r.(=) p.(=) Unknown - VUS g.63068299G>A g.62602628G>A ANGPTL3(NM_014495.4):c.931+248G>A, DOCK7(NM_001271999.2):c.1683-16004C>T - ANGPTL3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.932-17A>C r.(=) p.(=) Unknown - benign g.63069623A>C g.62603952A>C ANGPTL3(NM_014495.4):c.932-17A>C, DOCK7(NM_001271999.2):c.1682+14754T>G - ANGPTL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932-16A>G r.(=) p.(=) Unknown - VUS g.63069624A>G g.62603953A>G ANGPTL3(NM_014495.4):c.932-16A>G, DOCK7(NM_001271999.2):c.1682+14753T>C - ANGPTL3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932-14A>G r.(=) p.(=) Unknown - VUS g.63069626A>G - ANGPTL3(NM_014495.4):c.932-14A>G, DOCK7(NM_001367561.1):c.1682+14751T>C - ANGPTL3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.956A>G r.(?) p.(Lys319Arg) Unknown - likely benign g.63069664A>G g.62603993A>G ANGPTL3(NM_014495.4):c.956A>G (p.K319R), DOCK7(NM_001271999.2):c.1682+14713T>C - ANGPTL3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.956A>G r.(?) p.(Lys319Arg) Unknown - VUS g.63069664A>G - ANGPTL3(NM_014495.4):c.956A>G (p.K319R), DOCK7(NM_001271999.2):c.1682+14713T>C - ANGPTL3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.976C>A r.(?) p.(Gln326Lys) Unknown - likely benign g.63069684C>A g.62604013C>A ANGPTL3(NM_014495.4):c.976C>A (p.Q326K), DOCK7(NM_001271999.2):c.1682+14693G>T - ANGPTL3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994_996del r.(?) p.(Arg332del) Unknown - VUS g.63069702_63069704del - ANGPTL3(NM_014495.4):c.994_996delCGA (p.R332del), DOCK7(NM_001367561.1):c.1682+14674_1682+14676delCGT - ANGPTL3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995G>A r.(?) p.(Arg332Gln) Unknown - VUS g.63069703G>A - ANGPTL3(NM_014495.4):c.995G>A (p.R332Q), DOCK7(NM_001367561.1):c.1682+14674C>T - ANGPTL3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.998T>C r.(?) p.(Ile333Thr) Unknown - VUS g.63069706T>C g.62604035T>C ANGPTL3(NM_014495.4):c.998T>C (p.I333T), DOCK7(NM_001271999.2):c.1682+14671A>G - ANGPTL3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.998T>G r.(?) p.(Ile333Ser) Unknown - VUS g.63069706T>G - ANGPTL3(NM_014495.4):c.998T>G (p.I333S), DOCK7(NM_001367561.1):c.1682+14671A>C - ANGPTL3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.