Unique variants in gene APOL1

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.29+69T>C benign r.(=) p.(=) g.36650106T>C - APOL1(NM_145343.2):c.29+69T>C - APOL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.30-27G>A benign r.(=) p.(=) g.36650956G>A - APOL1(NM_001136540.1):c.-46G>A - APOL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.159C>T likely benign r.(?) p.(=) g.36653377C>T - APOL1(NM_145343.2):c.159C>T (p.N53=) - APOL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.235+1G>A - r.spl? p.? 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 - - - - - Marjolijn JL Ligtenberg
-/. 1 - c.236-14T>G benign r.(=) p.(=) g.36657628T>G - APOL1(NM_145343.2):c.236-14T>G - APOL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.334G>A benign r.(?) p.(Gly112Arg) g.36657740G>A - APOL1(NM_145343.2):c.334G>A (p.G112R) - APOL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.496G>A benign r.(?) p.(Glu166Lys) g.36661330G>A - APOL1(NM_145343.2):c.496G>A (p.E166K) - APOL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.504G>A likely benign r.(?) p.(=) g.36661338G>A - APOL1(NM_145343.2):c.504G>A (p.E168=) - APOL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.520C>T benign r.(?) p.(Leu174Phe) g.36661354C>T - APOL1(NM_145343.2):c.520C>T (p.L174F) - APOL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.575A>G likely benign r.(?) p.(Asn192Ser) g.36661409A>G - APOL1(NM_145343.2):c.575A>G (p.N192S) - APOL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.621C>T likely benign r.(?) p.(=) g.36661455C>T - APOL1(NM_145343.2):c.621C>T (p.L207=) - APOL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.702C>A benign r.(?) p.(=) g.36661536C>A - APOL1(NM_145343.2):c.702C>A (p.A234=) - APOL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.732G>A benign r.(?) p.(Met244Ile) g.36661566G>A - APOL1(NM_145343.2):c.732G>A (p.M244I) - APOL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.812G>A benign r.(?) p.(Arg271Lys) g.36661646G>A - APOL1(NM_145343.2):c.812G>A (p.R271K) - APOL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.840C>A benign r.(?) p.(Asn280Lys) g.36661674C>A - APOL1(NM_145343.2):c.840C>A (p.N280K) - APOL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.857G>A benign r.(?) p.(Gly286Asp) g.36661691G>A - APOL1(NM_145343.2):c.857G>A (p.G286D) - APOL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.885T>C likely benign r.(?) p.(=) g.36661719T>C - APOL1(NM_145343.2):c.885T>C (p.I295=) - APOL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.899G>A likely benign r.(?) p.(Arg300His) g.36661733G>A - APOL1(NM_145343.2):c.899G>A (p.R300H) - APOL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.980C>T VUS r.(?) p.(Ser327Leu) g.36661814C>T - APOL1(NM_145343.2):c.980C>T (p.S327L) - APOL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.993T>G likely benign r.(?) p.(=) g.36661827T>G - APOL1(NM_145343.2):c.993T>G (p.G331=) - APOL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1008G>A benign r.(?) p.(=) g.36661842G>A - APOL1(NM_145343.2):c.1008G>A (p.R336=) - APOL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1057G>A benign r.(?) p.(Asp353Asn) g.36661891G>A - APOL1(NM_145343.2):c.1057G>A (p.D353N) - APOL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1072A>G likely pathogenic r.(?) p.(Ser358Gly) g.36661906A>G - APOL1(NM_145343.2):c.1072A>G (p.S358G) - APOL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1200T>G likely pathogenic r.(?) p.(Ile400Met) g.36662034T>G - APOL1(NM_145343.2):c.1200T>G (p.I400M) - APOL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1212_1217del likely pathogenic r.(?) p.(Asn404_Tyr405del) g.36662046_36662051del - APOL1(NM_145343.2):c.1212_1217delTTATAA (p.N404_Y405del) - APOL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1229C>G likely benign r.(?) p.(Ala410Gly) g.36662063C>G - APOL1(NM_145343.2):c.1229C>G (p.A410G) - APOL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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