Unique variants in gene ABCB6

Information The variants shown are described using the NM_005689.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.-2524C>T likely benign r.(?) p.(=) g.220085919G>A - ATG9A(NM_001077198.1):c.2251C>T (p.(Arg751Trp)) - ABCB6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2452A>G VUS r.(?) p.(=) g.220085847T>C - ATG9A(NM_001077198.1):c.2323A>G (p.(Thr775Ala)) - ATG9A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.117G>A benign r.(?) p.(=) g.220083279C>T - ABCB6(NM_005689.2):c.117G>A (p.L39=) - ABCB6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.216C>T benign r.(?) p.(=) g.220083180G>A - ABCB6(NM_005689.2):c.216C>T (p.P72=) - ABCB6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.309G>A likely benign r.(?) p.(=) g.220083087C>T - ABCB6(NM_005689.2):c.309G>A (p.L103=) - ABCB6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.347T>G likely benign r.(?) p.(Leu116Arg) g.220083049A>C - ABCB6(NM_005689.2):c.347T>G (p.L116R) - ABCB6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.490G>A VUS r.(?) p.(Ala164Thr) g.220082906C>T - ABCB6(NM_005689.2):c.490G>A (p.(Ala164Thr)) - ABCB6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.574C>T VUS r.(?) p.(Arg192Trp) g.220082505G>A - ABCB6(NM_005689.2):c.574C>T (p.R192W) - ABCB6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 2 - c.575G>A likely benign r.(?) p.(Arg192Gln) g.220082504C>T - ABCB6(NM_005689.2):c.575G>A (p.R192Q) - ABCB6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.633C>G likely benign r.(?) p.(=) g.220082446G>C - ABCB6(NM_005689.2):c.633C>G (p.P211=) - ABCB6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.649C>A benign r.(?) p.(Gln217Lys) g.220082430G>T - ABCB6(NM_005689.2):c.649C>A (p.Q217K) - ABCB6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.659A>T likely benign r.(?) p.(Glu220Val) g.220082420T>A - ABCB6(NM_005689.2):c.659A>T (p.E220V) - ABCB6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.688-9C>T benign r.(=) p.(=) g.220081563G>A - ABCB6(NM_005689.2):c.688-9C>T - ABCB6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.717G>A pathogenic r.(?) p.(Trp239*) g.220081525C>T - ABCB6(NM_005689.2):c.717G>A (p.W239*) - ABCB6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.826C>T benign r.(?) p.(Arg276Trp) g.220081416G>A - ABCB6(NM_005689.2):c.826C>T (p.(Arg276Trp)) - ABCB6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.889G>T VUS r.(?) p.(Ala297Ser) g.220081167C>A - ABCB6(NM_005689.2):c.889G>T (p.A297S) - ABCB6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.904C>G likely benign r.(?) p.(Leu302Val) g.220081152G>C - ABCB6(NM_005689.2):c.904C>G (p.L302V) - ABCB6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1075C>T VUS r.(?) p.(Arg359Cys) g.220080798G>A - ABCB6(NM_005689.2):c.1075C>T (p.R359C) - ABCB6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1217G>C benign r.(?) p.(Ser406Thr) g.220079742C>G - ABCB6(NM_005689.2):c.1217G>C (p.S406T) - ABCB6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1230C>T benign r.(?) p.(=) g.220079729G>A - ABCB6(NM_005689.2):c.1230C>T (p.N410=) - ABCB6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1231G>A likely benign r.(?) p.(Ala411Thr) g.220079728C>T - ABCB6(NM_005689.2):c.1231G>A (p.A411T) - ABCB6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1452+7A>T likely benign r.(=) p.(=) g.220078836T>A - ABCB6(NM_005689.2):c.1452+7A>T - ABCB6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.1562C>G likely benign, benign r.(?) p.(Thr521Ser) g.220078564G>C - ABCB6(NM_005689.2):c.1562C>G (p.T521S) - ABCB6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1656-10C>T likely benign r.(=) p.(=) g.220078234G>A - ABCB6(NM_005689.2):c.1656-10C>T - ABCB6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1719+18A>C benign r.(=) p.(=) g.220078143T>G - ABCB6(NM_005689.2):c.1719+18A>C - ABCB6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1762G>A likely benign r.(?) p.(Gly588Ser) g.220078006C>T - ABCB6(NM_005689.2):c.1762G>A (p.G588S) - ABCB6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1900C>T VUS r.(?) p.(Arg634Cys) g.220077177G>A - ABCB6(NM_005689.2):c.1900C>T (p.(Arg634Cys)) - ABCB6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1943G>A likely benign r.(?) p.(Arg648Gln) g.220077134C>T - ABCB6(NM_005689.2):c.1943G>A (p.R648Q) - ABCB6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1969-20G>A benign r.(=) p.(=) g.220075850C>T - ABCB6(NM_005689.2):c.1969-20G>A - ABCB6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2041G>A VUS r.(?) p.(Ala681Thr) g.220075758C>T - ABCB6(NM_005689.2):c.2041G>A (p.A681T) - ABCB6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2144-4A>G benign r.spl? p.? g.220075549T>C - ABCB6(NM_005689.2):c.2144-4A>G - ABCB6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2163C>T likely benign r.(?) p.(=) g.220075526G>A - ABCB6(NM_005689.2):c.2163C>T (p.(=)) - ABCB6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2168G>A VUS r.(?) p.(Arg723Gln) g.220075521C>T - ABCB6(NM_005689.2):c.2168G>A (p.R723Q) - ABCB6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2215C>T likely benign r.(?) p.(Arg739Cys) g.220075474G>A - ABCB6(NM_005689.2):c.2215C>T (p.R739C) - ABCB6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2351+12C>T benign r.(=) p.(=) g.220075091G>A - ABCB6(NM_005689.2):c.2351+12C>T - ABCB6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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