Full data view for gene ABCB6

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

61 entries on 1 page. Showing entries 1 - 61.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-2524C>T r.(?) p.(=) Unknown - likely benign g.220085919G>A g.219221197G>A ATG9A(NM_001077198.1):c.2251C>T (p.(Arg751Trp)) - ABCB6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2452A>G r.(?) p.(=) Unknown - VUS g.220085847T>C g.219221125T>C ATG9A(NM_001077198.1):c.2323A>G (p.(Thr775Ala)) - ATG9A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.80T>G r.(?) p.(Phe27Cys) Unknown - likely benign g.220083316A>C - ABCB6(NM_005689.2):c.80T>G (p.F27C) - ABCB6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117G>A r.(?) p.(Leu39=) Unknown - benign g.220083279C>T g.219218557C>T ABCB6(NM_005689.4):c.117G>A (p.L39=) - ABCB6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.169G>A r.(?) p.(Ala57Thr) Parent #1 - pathogenic g.220083227C>T g.219218505C>T - - ABCB6_000041 10 heterozygous, no homozygous; {DB:CLININ2:220083227-CT} PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 10/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
-/. - c.216C>T r.(?) p.(Pro72=) Unknown - benign g.220083180G>A g.219218458G>A ABCB6(NM_005689.2):c.216C>T (p.P72=) - ABCB6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309G>A r.(?) p.(Leu103=) Unknown - likely benign g.220083087C>T g.219218365C>T ABCB6(NM_005689.2):c.309G>A (p.L103=) - ABCB6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347T>G r.(?) p.(Leu116Arg) Unknown - likely benign g.220083049A>C g.219218327A>C ABCB6(NM_005689.2):c.347T>G (p.L116R) - ABCB6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490G>A r.(?) p.(Ala164Thr) Unknown - VUS g.220082906C>T g.219218184C>T ABCB6(NM_005689.2):c.490G>A (p.(Ala164Thr)) - ABCB6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.574C>T r.(?) p.(Arg192Trp) Unknown - VUS g.220082505G>A g.219217783G>A ABCB6(NM_005689.2):c.574C>T (p.R192W) - ABCB6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.574C>T r.(?) p.(Arg192Trp) Unknown - VUS g.220082505G>A g.219217783G>A ABCB6(NM_005689.2):c.574C>T (p.R192W) - ABCB6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.574C>T r.(?) p.(Arg192Trp) Parent #1 - pathogenic g.220082505G>A g.219217783G>A - - ABCB6_000018 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-?/. - c.575G>A r.(?) p.(Arg192Gln) Unknown - likely benign g.220082504C>T g.219217782C>T ABCB6(NM_005689.2):c.575G>A (p.R192Q), ABCB6(NM_005689.4):c.575G>A (p.R192Q) - ABCB6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.575G>A r.(?) p.(Arg192Gln) Unknown - likely benign g.220082504C>T g.219217782C>T ABCB6(NM_005689.2):c.575G>A (p.R192Q), ABCB6(NM_005689.4):c.575G>A (p.R192Q) - ABCB6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575G>A r.(?) p.(Arg192Gln) Parent #1 - VUS g.220082504C>T g.219217782C>T - - ABCB6_000017 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-?/. - c.575G>A r.(?) p.(Arg192Gln) Unknown - likely benign g.220082504C>T - ABCB6(NM_005689.2):c.575G>A (p.R192Q), ABCB6(NM_005689.4):c.575G>A (p.R192Q) - ABCB6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.633C>G r.(?) p.(Pro211=) Unknown - likely benign g.220082446G>C g.219217724G>C ABCB6(NM_005689.2):c.633C>G (p.P211=) - ABCB6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.649C>A r.(?) p.(Gln217Lys) Unknown - benign g.220082430G>T g.219217708G>T ABCB6(NM_005689.2):c.649C>A (p.Q217K) - ABCB6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.659A>T r.(?) p.(Glu220Val) Unknown - likely benign g.220082420T>A g.219217698T>A ABCB6(NM_005689.2):c.659A>T (p.E220V) - ABCB6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.688-9C>T r.(=) p.(=) Unknown - benign g.220081563G>A g.219216841G>A ABCB6(NM_005689.2):c.688-9C>T - ABCB6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.717G>A r.(?) p.(Trp239Ter) Unknown - pathogenic g.220081525C>T g.219216803C>T ABCB6(NM_005689.4):c.717G>A (p.W239*) - ABCB6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.717G>A r.(?) p.(Trp239*) Parent #1 - pathogenic g.220081525C>T g.219216803C>T - - ABCB6_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.826C>T r.(?) p.(Arg276Trp) Unknown - benign g.220081416G>A g.219216694G>A ABCB6(NM_005689.2):c.826C>T (p.(Arg276Trp)) - ABCB6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.826C>T r.(?) p.(Arg276Trp) Parent #1 - benign g.220081416G>A g.219216694G>A - - ABCB6_000037 6 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 6/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
-/. - c.826C>T r.(?) p.(Arg276Trp) Both (homozygous) - benign g.220081416G>A g.219216694G>A - - ABCB6_000037 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.889G>T r.(?) p.(Ala297Ser) Unknown - VUS g.220081167C>A g.219216445C>A ABCB6(NM_005689.2):c.889G>T (p.A297S) - ABCB6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904C>G r.(?) p.(Leu302Val) Unknown - likely benign g.220081152G>C g.219216430G>C ABCB6(NM_005689.2):c.904C>G (p.L302V) - ABCB6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.914C>G r.(?) p.(Thr305Ser) Unknown - VUS g.220081142G>C - ABCB6(NM_005689.2):c.914C>G (p.T305S) - ABCB6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007G>C r.(?) p.(Arg336Pro) Unknown - VUS g.220080866C>G g.219216144C>G ABCB6(NM_005689.2):c.1007G>C (p.R336P) - ABCB6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1030C>T r.(?) p.(Arg344Trp) Unknown - likely benign g.220080843G>A - ABCB6(NM_005689.2):c.1030C>T (p.R344W) - ABCB6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1075C>T r.(?) p.(Arg359Cys) Unknown - VUS g.220080798G>A g.219216076G>A ABCB6(NM_005689.2):c.1075C>T (p.R359C) - ABCB6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1124G>A r.(?) p.(Arg375Gln) Unknown - likely pathogenic g.220080749C>T - - - ABCB6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1217G>C r.(?) p.(Ser406Thr) Unknown - benign g.220079742C>G g.219215020C>G ABCB6(NM_005689.2):c.1217G>C (p.S406T) - ABCB6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1230C>T r.(?) p.(Asn410=) Unknown - benign g.220079729G>A g.219215007G>A ABCB6(NM_005689.2):c.1230C>T (p.N410=) - ABCB6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1231G>A r.(?) p.(Ala411Thr) Unknown - likely benign g.220079728C>T g.219215006C>T ABCB6(NM_005689.2):c.1231G>A (p.A411T) - ABCB6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1273C>G r.(?) p.(Leu425Val) Both (homozygous) - VUS g.220079686G>C g.219214964G>C - - ABCB6_000047 - PubMed: Beck 2014 - rs111852229 Germline - - - 0 - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - 0 - - 5 Johan den Dunnen
?/. - c.1385C>T r.(?) p.(Thr462Met) Parent #1 - VUS g.220079112G>A g.219214390G>A - - ABCB6_000040 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.1442T>C r.(?) p.(Ile481Thr) Unknown - likely benign g.220078853A>G - ABCB6(NM_005689.2):c.1442T>C (p.I481T) - ABCB6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1452+7A>T r.(=) p.(=) Unknown - likely benign g.220078836T>A g.219214114T>A ABCB6(NM_005689.2):c.1452+7A>T - ABCB6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1562C>G r.(?) p.(Thr521Ser) Unknown - benign g.220078564G>C g.219213842G>C ABCB6(NM_005689.2):c.1562C>G (p.T521S, p.(Thr521Ser)), ABCB6(NM_005689.4):c.1562C>G (p.T521S) - ABCB6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1562C>G r.(?) p.(Thr521Ser) Unknown - likely benign g.220078564G>C g.219213842G>C ABCB6(NM_005689.2):c.1562C>G (p.T521S, p.(Thr521Ser)), ABCB6(NM_005689.4):c.1562C>G (p.T521S) - ABCB6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1562C>G r.(?) p.(Thr521Ser) Unknown - likely benign g.220078564G>C - ABCB6(NM_005689.2):c.1562C>G (p.T521S, p.(Thr521Ser)), ABCB6(NM_005689.4):c.1562C>G (p.T521S) - ABCB6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1562C>G r.(?) p.(Thr521Ser) Unknown - likely benign g.220078564G>C - ABCB6(NM_005689.2):c.1562C>G (p.T521S, p.(Thr521Ser)), ABCB6(NM_005689.4):c.1562C>G (p.T521S) - ABCB6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1656-10C>T r.(=) p.(=) Unknown - likely benign g.220078234G>A g.219213512G>A ABCB6(NM_005689.2):c.1656-10C>T - ABCB6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1719+18A>C r.(=) p.(=) Unknown - benign g.220078143T>G g.219213421T>G ABCB6(NM_005689.2):c.1719+18A>C - ABCB6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1762G>A r.(?) p.(Gly588Ser) Unknown - likely benign g.220078006C>T g.219213284C>T ABCB6(NM_005689.2):c.1762G>A (p.G588S), ABCB6(NM_005689.4):c.1762G>A (p.G588S) - ABCB6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1762G>A r.(?) p.(Gly588Ser) Unknown - likely benign g.220078006C>T g.219213284C>T ABCB6(NM_005689.2):c.1762G>A (p.G588S), ABCB6(NM_005689.4):c.1762G>A (p.G588S) - ABCB6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1762G>A r.(?) p.(Gly588Ser) Unknown - likely benign g.220078006C>T - ABCB6(NM_005689.2):c.1762G>A (p.G588S), ABCB6(NM_005689.4):c.1762G>A (p.G588S) - ABCB6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1844C>T r.(?) p.(Pro615Leu) Unknown - VUS g.220077749G>A g.219213027G>A - - ABCB6_000043 - - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - Germany - - 0 - - 1 Andreas Laner
?/. - c.1900C>T r.(?) p.(Arg634Cys) Unknown - VUS g.220077177G>A g.219212455G>A ABCB6(NM_005689.2):c.1900C>T (p.(Arg634Cys)) - ABCB6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1943G>A r.(?) p.(Arg648Gln) Unknown - likely benign g.220077134C>T g.219212412C>T ABCB6(NM_005689.2):c.1943G>A (p.R648Q) - ABCB6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1969-20G>A r.(=) p.(=) Unknown - benign g.220075850C>T g.219211128C>T ABCB6(NM_005689.2):c.1969-20G>A - ABCB6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2004T>C r.(?) p.(Val668=) Unknown - likely benign g.220075795A>G - ABCB6(NM_005689.2):c.2004T>C (p.V668=) - ABCB6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2041G>A r.(?) p.(Ala681Thr) Unknown - VUS g.220075758C>T g.219211036C>T ABCB6(NM_005689.2):c.2041G>A (p.A681T) - ABCB6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2144-4A>G r.spl? p.? Unknown - benign g.220075549T>C g.219210827T>C ABCB6(NM_005689.2):c.2144-4A>G - ABCB6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2163C>T r.(?) p.(Gly721=) Unknown - likely benign g.220075526G>A g.219210804G>A ABCB6(NM_005689.2):c.2163C>T (p.(=)) - ABCB6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2168G>A r.(?) p.(Arg723Gln) Unknown - VUS g.220075521C>T g.219210799C>T ABCB6(NM_005689.2):c.2168G>A (p.R723Q) - ABCB6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2168G>A r.(?) p.(Arg723Gln) Parent #1 - pathogenic g.220075521C>T g.219210799C>T - - ABCB6_000003 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 12/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 12 Mohammed Faruq
-?/. - c.2215C>T r.(?) p.(Arg739Cys) Unknown - likely benign g.220075474G>A g.219210752G>A ABCB6(NM_005689.2):c.2215C>T (p.R739C) - ABCB6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2215C>T r.(?) p.(Arg739Cys) Unknown - VUS g.220075474G>A - ABCB6(NM_005689.2):c.2215C>T (p.R739C) - ABCB6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2351+12C>T r.(=) p.(=) Unknown - benign g.220075091G>A g.219210369G>A ABCB6(NM_005689.2):c.2351+12C>T - ABCB6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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