Full data view for gene APOL1

Information The variants shown are described using the NM_145343.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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     

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Age at death     

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Data_av     

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Owner     
-/. - c.29+69T>C r.(=) p.(=) Unknown - benign g.36650106T>C g.36254060T>C APOL1(NM_145343.2):c.29+69T>C - APOL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.30-27G>A r.(=) p.(=) Unknown - benign g.36650956G>A g.36254910G>A APOL1(NM_001136540.2):c.-46G>A - APOL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30-5T>C r.spl? p.? Unknown - likely benign g.36650978T>C - APOL1(NM_003661.4):c.-19-5T>C - APOL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40T>C r.(?) p.(Cys14Arg) Unknown - VUS g.36650993T>C - APOL1(NM_003661.4):c.-9T>C, APOL1(NM_145343.2):c.40T>C (p.C14R) - APOL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71G>A r.(?) p.(Arg24Lys) Unknown - VUS g.36651024G>A - APOL1(NM_003661.4):c.23G>A (p.(Arg8Lys), p.R8K), APOL1(NM_145343.2):c.71G>A (p.R24K) - APOL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71G>A r.(?) p.(Arg24Lys) Unknown - likely benign g.36651024G>A - APOL1(NM_003661.4):c.23G>A (p.(Arg8Lys), p.R8K), APOL1(NM_145343.2):c.71G>A (p.R24K) - APOL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77C>T r.(?) p.(Ser26Phe) Unknown - likely benign g.36651030C>T g.36254984C>T APOL1(NM_003661.4):c.29C>T (p.(Ser10Phe), p.S10F), APOL1(NM_145343.2):c.77C>T (p.S26F) - APOL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Ser26Phe) Unknown - VUS g.36651030C>T - APOL1(NM_003661.4):c.29C>T (p.(Ser10Phe), p.S10F), APOL1(NM_145343.2):c.77C>T (p.S26F) - APOL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Ser26Phe) Unknown - VUS g.36651030C>T - APOL1(NM_003661.4):c.29C>T (p.(Ser10Phe), p.S10F), APOL1(NM_145343.2):c.77C>T (p.S26F) - APOL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159C>T r.(?) p.(Asn53=) Unknown - likely benign g.36653377C>T g.36257331C>T APOL1(NM_145343.2):c.159C>T (p.N53=) - APOL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160G>A r.(?) p.(Val54Ile) Unknown - likely benign g.36653378G>A - APOL1(NM_003661.4):c.112G>A (p.V38I) - APOL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.167G>T r.(?) p.(Ser56Ile) Unknown - likely benign g.36653385G>T - APOL1(NM_003661.4):c.119G>T (p.S40I) - APOL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.172A>G r.(?) p.(Thr58Ala) Unknown - likely benign g.36653390A>G - APOL1(NM_003661.4):c.124A>G (p.T42A) - APOL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.235+1G>A r.spl? p.? Unknown - likely pathogenic g.36653454G>A g.36257408G>A NM_003661.3(APOL1):c.187+1G>A r.spl p.? - APOL1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-716A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.236-15C>T r.(=) p.(=) Unknown - likely benign g.36657627C>T - APOL1(NM_003661.4):c.188-15C>T - APOL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.236-14T>G r.(=) p.(=) Unknown - benign g.36657628T>G g.36261582T>G APOL1(NM_145343.3):c.236-14T>G - APOL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.334G>A r.(?) p.(Gly112Arg) Unknown - benign g.36657740G>A g.36261694G>A APOL1(NM_145343.2):c.334G>A (p.G112R) - APOL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.362+10A>G r.(=) p.(=) Unknown - likely benign g.36657778A>G g.36261732A>G APOL1(NM_145343.2):c.362+10A>G - APOL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366T>C r.(?) p.(Asn122=) Unknown - likely benign g.36661200T>C - APOL1(NM_003661.4):c.318T>C (p.N106=), APOL1(NM_145343.2):c.366T>C (p.N122=) - APOL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366T>C r.(?) p.(Asn122=) Unknown - likely benign g.36661200T>C - APOL1(NM_003661.4):c.318T>C (p.N106=), APOL1(NM_145343.2):c.366T>C (p.N122=) - APOL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457A>G r.(?) p.(Arg153Gly) Unknown - likely benign g.36661291A>G - APOL1(NM_003661.4):c.409A>G (p.R137G) - APOL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462C>T r.(?) p.(Asn154=) Unknown - likely benign g.36661296C>T - APOL1(NM_003661.4):c.414C>T (p.N138=) - APOL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.496G>A r.(?) p.(Glu166Lys) Unknown - benign g.36661330G>A g.36265284G>A APOL1(NM_145343.3):c.496G>A (p.E166K) - APOL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504G>A r.(?) p.(Glu168=) Unknown - likely benign g.36661338G>A g.36265292G>A APOL1(NM_145343.2):c.504G>A (p.E168=) - APOL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.520C>T r.(?) p.(Leu174Phe) Unknown - benign g.36661354C>T g.36265308C>T APOL1(NM_003661.3):c.472C>T (p.(Leu158Phe)), APOL1(NM_145343.2):c.520C>T (p.L174F) - APOL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.520C>T r.(?) p.(Leu174Phe) Unknown - benign g.36661354C>T g.36265308C>T APOL1(NM_003661.3):c.472C>T (p.(Leu158Phe)), APOL1(NM_145343.2):c.520C>T (p.L174F) - APOL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.520C>T r.(?) p.(Leu174Phe) Unknown - likely benign g.36661354C>T - APOL1(NM_003661.3):c.472C>T (p.(Leu158Phe)), APOL1(NM_145343.2):c.520C>T (p.L174F) - APOL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575A>G r.(?) p.(Asn192Ser) Unknown - likely benign g.36661409A>G g.36265363A>G APOL1(NM_145343.2):c.575A>G (p.N192S) - APOL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587G>T r.(?) p.(Gly196Val) Unknown - likely benign g.36661421G>T - APOL1(NM_145343.2):c.587G>T (p.G196V) - APOL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621C>T r.(?) p.(Leu207=) Unknown - likely benign g.36661455C>T g.36265409C>T APOL1(NM_003661.4):c.573C>T (p.L191=), APOL1(NM_145343.2):c.621C>T (p.L207=) - APOL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621C>T r.(?) p.(Leu207=) Unknown - likely benign g.36661455C>T - APOL1(NM_003661.4):c.573C>T (p.L191=), APOL1(NM_145343.2):c.621C>T (p.L207=) - APOL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.684G>A r.(?) p.(Met228Ile) Unknown - likely benign g.36661518G>A - APOL1(NM_003661.4):c.636G>A (p.M212I) - APOL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702C>A r.(?) p.(Ala234=) Unknown - benign g.36661536C>A g.36265490C>A APOL1(NM_145343.3):c.702C>A (p.A234=) - APOL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.732G>A r.(?) p.(Met244Ile) Unknown - benign g.36661566G>A g.36265520G>A APOL1(NM_145343.3):c.732G>A (p.M244I) - APOL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739G>A r.(?) p.(Gly247Arg) Unknown - likely benign g.36661573G>A - APOL1(NM_003661.4):c.691G>A (p.G231R), APOL1(NM_145343.2):c.739G>A (p.G247R) - APOL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739G>A r.(?) p.(Gly247Arg) Unknown - likely benign g.36661573G>A - APOL1(NM_003661.4):c.691G>A (p.G231R), APOL1(NM_145343.2):c.739G>A (p.G247R) - APOL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.812G>A r.(?) p.(Arg271Lys) Unknown - benign g.36661646G>A g.36265600G>A APOL1(NM_145343.3):c.812G>A (p.R271K) - APOL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.840C>A r.(?) p.(Asn280Lys) Unknown - benign g.36661674C>A g.36265628C>A APOL1(NM_003661.4):c.792C>A (p.N264K), APOL1(NM_145343.2):c.840C>A (p.N280K) - APOL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.840C>A r.(?) p.(Asn280Lys) Unknown - VUS g.36661674C>A g.36265628C>A APOL1(NM_003661.4):c.792C>A (p.N264K), APOL1(NM_145343.2):c.840C>A (p.N280K) - APOL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.857G>A r.(?) p.(Gly286Asp) Unknown - benign g.36661691G>A g.36265645G>A APOL1(NM_003661.4):c.809G>A (p.G270D), APOL1(NM_145343.2):c.857G>A (p.G286D) - APOL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.857G>A r.(?) p.(Gly286Asp) Unknown - likely benign g.36661691G>A - APOL1(NM_003661.4):c.809G>A (p.G270D), APOL1(NM_145343.2):c.857G>A (p.G286D) - APOL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885T>C r.(?) p.(Ile295=) Unknown - likely benign g.36661719T>C g.36265673T>C APOL1(NM_145343.2):c.885T>C (p.I295=) - APOL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899G>A r.(?) p.(Arg300His) Unknown - likely benign g.36661733G>A g.36265687G>A APOL1(NM_145343.2):c.899G>A (p.R300H) - APOL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899G>A r.(?) p.(Arg300His) Unknown - likely benign g.36661733G>A g.36265687G>A APOL1(NM_145343.2):c.899G>A (p.R300H) - APOL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.941A>G r.(?) p.(His314Arg) Unknown - likely benign g.36661775A>G - APOL1(NM_003661.4):c.893A>G (p.H298R) - APOL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957C>T r.(?) p.(Arg319=) Unknown - likely benign g.36661791C>T - APOL1(NM_003661.4):c.909C>T (p.R303=) - APOL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.980C>T r.(?) p.(Ser327Leu) Unknown - VUS g.36661814C>T g.36265768C>T APOL1(NM_003661.4):c.932C>T (p.S311L), APOL1(NM_145343.2):c.980C>T (p.S327L) - APOL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.980C>T r.(?) p.(Ser327Leu) Unknown - likely benign g.36661814C>T - APOL1(NM_003661.4):c.932C>T (p.S311L), APOL1(NM_145343.2):c.980C>T (p.S327L) - APOL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993T>G r.(?) p.(Gly331=) Unknown - likely benign g.36661827T>G g.36265781T>G APOL1(NM_145343.2):c.993T>G (p.G331=) - APOL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993T>G r.(?) p.(Gly331=) Unknown - likely benign g.36661827T>G - APOL1(NM_145343.2):c.993T>G (p.G331=) - APOL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1008G>A r.(?) p.(Arg336=) Unknown - benign g.36661842G>A g.36265796G>A APOL1(NM_145343.3):c.1008G>A (p.R336=) - APOL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1057G>A r.(?) p.(Asp353Asn) Unknown - benign g.36661891G>A g.36265845G>A APOL1(NM_145343.2):c.1057G>A (p.D353N) - APOL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1106T>A r.(?) p.(Val369Glu) Unknown - likely benign g.36661940T>A - APOL1(NM_003661.4):c.1058T>A (p.V353E) - APOL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1111G>A r.(?) p.(Glu371Lys) Unknown - likely benign g.36661945G>A - APOL1(NM_003661.4):c.1063G>A (p.E355K) - APOL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1160_1163dup r.(?) p.(Lys388Asnfs*18) Unknown - VUS g.36661994_36661997dup - - - APOL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198A>G r.(?) p.(Ile400Val) Unknown - VUS g.36662032A>G - APOL1(NM_003661.4):c.1150A>G (p.(Ile384Val)) - APOL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1200T>G r.(?) p.(Ile400Met) Unknown - likely pathogenic g.36662034T>G g.36265988T>G APOL1(NM_003661.4):c.1152T>G (p.I384M), APOL1(NM_145343.2):c.1200T>G (p.I400M) - APOL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1200T>G r.(?) p.(Ile400Met) Unknown - VUS g.36662034T>G - APOL1(NM_003661.4):c.1152T>G (p.I384M), APOL1(NM_145343.2):c.1200T>G (p.I400M) - APOL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1212_1217del r.(?) p.(Asn404_Tyr405del) Unknown - likely pathogenic g.36662046_36662051del g.36266000_36266005del APOL1(NM_003661.4):c.1164_1169delTTATAA (p.N388_Y389del), APOL1(NM_145343.2):c.1212_1217delTTATAA (p.N404_Y405del) - APOL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1216A>G r.(?) p.(Lys406Glu) Unknown - likely benign g.36662050A>G - APOL1(NM_145343.2):c.1216A>G (p.K406E) - APOL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1229C>G r.(?) p.(Ala410Gly) Unknown - likely benign g.36662063C>G g.36266017C>G APOL1(NM_003661.4):c.1181C>G (p.A394G), APOL1(NM_145343.2):c.1229C>G (p.A410G) - APOL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1229C>G r.(?) p.(Ala410Gly) Unknown - VUS g.36662063C>G - APOL1(NM_003661.4):c.1181C>G (p.A394G), APOL1(NM_145343.2):c.1229C>G (p.A410G) - APOL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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