Full data view for gene ABCB11

Information The variants shown are described using the NM_003742.2 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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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.76+152C>T r.(=) p.(=) Unknown - VUS g.169874408G>A g.169017898G>A ABCB11(NM_003742.2):c.76+152C>T - ABCB11_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.98+10T>G r.(=) p.(=) Unknown - likely benign g.169873278A>C g.169016768A>C ABCB11(NM_003742.4):c.98+10T>G - ABCB11_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127G>A r.(?) p.(Val43Ile) Unknown - likely benign g.169870836C>T g.169014326C>T ABCB11(NM_003742.4):c.127G>A (p.V43I) - ABCB11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.127G>A r.(?) p.(Val43Ile) Unknown - VUS g.169870836C>T - ABCB11(NM_003742.4):c.127G>A (p.V43I) - ABCB11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.192G>A r.(?) p.(Val64=) Unknown - likely pathogenic g.169869979C>T g.169013469C>T ABCB11(NM_003742.2):c.192G>A (p.V64=) - ABCB11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.206C>T r.(?) p.(Ala69Val) Unknown - VUS g.169869965G>A g.169013455G>A ABCB11(NM_003742.2):c.206C>T (p.A69V) - ABCB11_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.270T>C r.(?) p.(Phe90=) Unknown - benign g.169869901A>G g.169013391A>G ABCB11(NM_003742.2):c.270T>C (p.F90=), ABCB11(NM_003742.4):c.270T>C (p.F90=) - ABCB11_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.270T>C r.(?) p.(Phe90=) Unknown - benign g.169869901A>G g.169013391A>G ABCB11(NM_003742.2):c.270T>C (p.F90=), ABCB11(NM_003742.4):c.270T>C (p.F90=) - ABCB11_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.270T>C r.(=) p.(=) Parent #1 - likely benign g.169869901A>G g.169013391A>G - - ABCB11_000035 217 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4148777 Germline - 217/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 217 Mohammed Faruq
-?/. - c.270T>C r.(=) p.(=) Both (homozygous) - likely benign g.169869901A>G g.169013391A>G - - ABCB11_000035 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4148777 Germline - 4/2791 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.386G>A r.(?) p.(Cys129Tyr) Maternal (confirmed) ACMG likely pathogenic (recessive) g.169869785C>T - - - ABCB11_000069 - PubMed: Togawa 2016 - - Germline - - - 0 - DNA SEQ - - ? NCU20 PubMed: Togawa 2016 - F - Japan - - 0 - - 1 Johan den Dunnen
+?/. - c.386G>A r.(?) p.(Cys129Tyr) Unknown ACMG likely pathogenic (recessive) g.169869785C>T - - - ABCB11_000069 - PubMed: Togawa 2016 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ? NCU21 PubMed: Togawa 2016 - F - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.389+8G>A r.(=) p.(=) Unknown - benign g.169869774C>T g.169013264C>T ABCB11(NM_003742.2):c.389+8G>A, ABCB11(NM_003742.4):c.389+8G>A - ABCB11_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.389+8G>A r.(=) p.(=) Unknown - benign g.169869774C>T g.169013264C>T ABCB11(NM_003742.2):c.389+8G>A, ABCB11(NM_003742.4):c.389+8G>A - ABCB11_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.477+8G>T r.(=) p.(=) Unknown - likely benign g.169853137C>A g.168996627C>A ABCB11(NM_003742.4):c.477+8G>T - ABCB11_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.499G>T r.(?) p.(Ala167Ser) Unknown - likely benign g.169851971C>A g.168995461C>A ABCB11(NM_003742.4):c.499G>T (p.A167S) - ABCB11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.500C>T r.(?) p.(Ala167Val) Unknown - VUS g.169851970G>A g.168995460G>A ABCB11(NM_003742.2):c.500C>T (p.A167V) - ABCB11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.612-11C>G r.(=) p.(=) Unknown - VUS g.169850403G>C g.168993893G>C ABCB11(NM_003742.2):c.612-11C>G - ABCB11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.755T>C r.(?) p.(Ile252Thr) Unknown - VUS g.169850249A>G g.168993739A>G ABCB11(NM_003742.4):c.755T>C (p.I252T) - ABCB11_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830C>T r.(?) p.(Ala277Val) Unknown - VUS g.169847389G>A - ABCB11(NM_003742.4):c.830C>T (p.A277V) - ABCB11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851T>C r.(?) p.(Val284Ala) Unknown - VUS g.169847368A>G - ABCB11(NM_003742.4):c.851T>C (p.V284A) - ABCB11_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.862A>G r.(?) p.(Met288Val) Unknown - likely benign g.169847357T>C g.168990847T>C ABCB11(NM_003742.4):c.862A>G (p.M288V) - ABCB11_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.890A>G r.(?) p.(Glu297Gly) Unknown - pathogenic g.169847329T>C g.168990819T>C ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G) - ABCB11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.890A>G r.(?) p.(Glu297Gly) Unknown - pathogenic g.169847329T>C g.168990819T>C ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G) - ABCB11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.890A>G r.(?) p.(Glu297Gly) Unknown - pathogenic g.169847329T>C g.168990819T>C ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G) - ABCB11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.890A>G r.(?) p.(Glu297Gly) Unknown - pathogenic g.169847329T>C g.168990819T>C ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G) - ABCB11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.890A>G r.(?) p.(Asn510Ser) Parent #2 - likely pathogenic (recessive) g.169847329T>C - - - ABCB11_000030 - PubMed: Stalke 2018 - - Germline - - - 0 - DNA SEQ - - PFIC Fam12PatLP17 PubMed: Stalke 2018 - - - Germany - - 0 - - 1 Johan den Dunnen
-?/. - c.902T>C r.(?) p.(Val301Ala) Unknown - likely benign g.169847317A>G g.168990807A>G ABCB11(NM_003742.2):c.902T>C (p.(Val301Ala)) - ABCB11_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.908G>T r.(?) p.(Arg303Met) Unknown - likely pathogenic g.169847311C>A - ABCB11(NM_003742.4):c.908G>T (p.R303M) - ABCB11_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908+1G>C r.spl? p.? Unknown - VUS g.169847310C>G g.168990800C>G ABCB11(NM_003742.2):c.908+1G>C - ABCB11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.909-17G>A r.(=) p.(=) Unknown - benign g.169842811C>T g.168986301C>T ABCB11(NM_003742.2):c.909-17G>A - ABCB11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.909-15A>G r.(=) p.(=) Unknown - benign g.169842809T>C g.168986299T>C ABCB11(NM_003742.4):c.909-15A>G - ABCB11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.909-15A>G r.(=) p.(=) Unknown - benign g.169842809T>C g.168986299T>C ABCB11(NM_003742.4):c.909-15A>G - ABCB11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.909-1G>A r.spl? p.? Unknown - pathogenic g.169842795C>T g.168986285C>T ABCB11(NM_003742.2):c.909-1G>A - ABCB11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.957A>G r.(?) p.(Gly319=) Unknown - benign g.169842746T>C g.168986236T>C ABCB11(NM_003742.2):c.957A>G (p.G319=) - ABCB11_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.957A>G r.(=) p.(=) Parent #1 - benign g.169842746T>C g.168986236T>C - - ABCB11_000049 145 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7563233 Germline - 145/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 145 Mohammed Faruq
-/. - c.957A>G r.(=) p.(=) Both (homozygous) - benign g.169842746T>C g.168986236T>C - - ABCB11_000049 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7563233 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.1084-13_1084-12del r.(=) p.(=) Unknown - likely benign g.169836508_169836509del g.168979998_168979999del ABCB11(NM_003742.4):c.1084-13_1084-12delCT - ABCB11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1243C>T r.(?) p.(Arg415*) Both (homozygous) - likely pathogenic (recessive) g.169833152G>A - - - ABCB11_000063 - PubMed: Stalke 2018 - - Germline - - - 0 - DNA SEQ - - PFIC Fam13PatLP95 PubMed: Stalke 2018 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.1308+1G>A r.spl? p.? Unknown - pathogenic g.169833086C>T - ABCB11(NM_003742.4):c.1308+1G>A - ABCB11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308+12T>C r.(=) p.(=) Unknown - likely benign g.169833075A>G g.168976565A>G ABCB11(NM_003742.4):c.1308+12T>C - ABCB11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1331T>C r.(?) p.(Val444Ala) Unknown - benign g.169830328A>G g.168973818A>G ABCB11(NM_003742.4):c.1331T>C (p.V444A) - ABCB11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1373G>A r.(?) p.(Gly458Glu) Unknown - likely pathogenic g.169830286C>T - ABCB11(NM_003742.4):c.1373G>A (p.G458E) - ABCB11_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408C>T r.(?) p.(Arg470Ter) Unknown - pathogenic g.169830251G>A g.168973741G>A ABCB11(NM_003742.2):c.1408C>T (p.R470*) - ABCB11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1445A>G r.(?) p.(Asp482Gly) Unknown - pathogenic g.169828550T>C g.168972040T>C ABCB11(NM_003742.4):c.1445A>G (p.D482G) - ABCB11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1445A>G r.(?) p.(Asp482Gly) Parent #1 - likely pathogenic (recessive) g.169828550T>C - - - ABCB11_000022 - PubMed: Stalke 2018 - - Germline - - - 0 - DNA SEQ - - PFIC Fam12PatLP17 PubMed: Stalke 2018 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.1460G>A r.(?) p.(Arg487His) Unknown - pathogenic g.169828535C>T g.168972025C>T ABCB11(NM_003742.2):c.1460G>A (p.R487H) - ABCB11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1460G>A r.(?) p.(Arg487His) Paternal (confirmed) ACMG pathogenic (recessive) g.169828535C>T - - - ABCB11_000021 - PubMed: Togawa 2016 - - Germline - - - 0 - DNA SEQ - - ? NCU20 PubMed: Togawa 2016 - F - Japan - - 0 - - 1 Johan den Dunnen
+?/. - c.1487A>T r.(?) p.(Asp496Val) Unknown - likely pathogenic g.169828508T>A - ABCB11(NM_003742.4):c.1487A>T (p.D496V) - ABCB11_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1639-152G>A r.(=) p.(=) Unknown - benign g.169826877C>T g.168970367C>T ABCB11(NM_003742.4):c.1639-152G>A - ABCB11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1709C>T r.(?) p.(Ala570Val) Paternal (confirmed) ACMG likely pathogenic (recessive) g.169826655G>A - - - ABCB11_000068 - PubMed: Togawa 2016 - - Germline - - - 0 - DNA SEQ - - ? NCU24 PubMed: Togawa 2016 - F - Japan - - 0 - - 1 Johan den Dunnen
?/. - c.1723C>T r.(?) p.(Arg575Ter) Unknown - VUS g.169826641G>A g.168970131G>A ABCB11(NM_003742.2):c.1723C>T (p.R575*), ABCB11(NM_003742.4):c.1723C>T (p.R575*) - ABCB11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1723C>T r.(?) p.(Arg575Ter) Unknown - pathogenic g.169826641G>A g.168970131G>A ABCB11(NM_003742.2):c.1723C>T (p.R575*), ABCB11(NM_003742.4):c.1723C>T (p.R575*) - ABCB11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1753G>A r.(?) p.(Ala585Thr) Unknown - pathogenic g.169826611C>T g.168970101C>T ABCB11(NM_003742.2):c.1753G>A (p.A585T) - ABCB11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1772A>G r.(?) p.(Asn591Ser) Unknown - likely benign g.169826592T>C g.168970082T>C ABCB11(NM_003742.2):c.1772A>G (p.(Asn591Ser)) - ABCB11_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1907A>G r.(?) p.(Glu636Gly) Unknown - likely pathogenic g.169825964T>C g.168969454T>C - - ABCB11_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1977G>A r.(?) p.(Gln659=) Unknown - likely benign g.169825894C>T g.168969384C>T ABCB11(NM_003742.4):c.1977G>A (p.Q659=) - ABCB11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2029A>G r.(?) p.(Met677Val) Parent #1 - likely benign g.169824983T>C g.168968473T>C - - ABCB11_000046 53 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11568364 Germline - 53/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 53 Mohammed Faruq
-?/. - c.2029A>G r.(?) p.(Met677Val) Both (homozygous) - likely benign g.169824983T>C g.168968473T>C - - ABCB11_000046 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11568364 Germline - 1/2793 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.2063A>G r.(?) p.(Gln688Arg) Unknown - likely benign g.169824949T>C g.168968439T>C ABCB11(NM_003742.2):c.2063A>G (p.Q688R) - ABCB11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2086C>A r.(?) p.(Arg696=) Unknown - likely benign g.169820808G>T g.168964298G>T ABCB11(NM_003742.4):c.2086C>A (p.R696=) - ABCB11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2093G>A r.(?) p.(Arg698His) Unknown - likely benign g.169820801C>T g.168964291C>T ABCB11(NM_003742.4):c.2093G>A (p.R698H) - ABCB11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2134T>C r.(?) p.(Leu712=) Unknown - benign g.169820760A>G g.168964250A>G ABCB11(NM_003742.4):c.2134T>C (p.L712=) - ABCB11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2134T>C r.(?) p.(Leu712=) Unknown - likely benign g.169820760A>G g.168964250A>G ABCB11(NM_003742.4):c.2134T>C (p.L712=) - ABCB11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2135T>C r.(?) p.(Leu712Ser) Unknown - VUS g.169820759A>G g.168964249A>G ABCB11(NM_003742.2):c.2135T>C (p.L712S) - ABCB11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2179-17C>A r.(=) p.(=) Unknown - benign g.169814655G>T g.168958145G>T ABCB11(NM_003742.4):c.2179-17C>A - ABCB11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2179-17C>A r.(=) p.(=) Unknown - benign g.169814655G>T g.168958145G>T ABCB11(NM_003742.4):c.2179-17C>A - ABCB11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2188_2189insACGACA r.(?) p.(Asp729_Ile730insAsnAsp) Unknown - VUS g.169814632_169814633insGTTGTC g.168958122_168958123insGTTGTC ABCB11(NM_003742.4):c.2188_2189insACGACA (p.D729_I730insND) - ABCB11_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2324del r.(?) p.(Leu775Tyrfs*29) Both (homozygous) - pathogenic g.169814497del g.168957987del 2324delT - ABCB11_000042 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 IMGAG
-/. - c.2344-17T>C r.(=) p.(=) Unknown - benign g.169801488A>G g.168944978A>G ABCB11(NM_003742.4):c.2344-17T>C - ABCB11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2344-17T>C r.(=) p.(=) Unknown - benign g.169801488A>G g.168944978A>G ABCB11(NM_003742.4):c.2344-17T>C - ABCB11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2412A>G r.(?) p.(Ala804=) Unknown - benign g.169801403T>C g.168944893T>C ABCB11(NM_003742.4):c.2412A>G (p.A804=) - ABCB11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2594C>T r.(?) p.(Ala865Val) Unknown - benign g.169801131G>A g.168944621G>A ABCB11(NM_003742.4):c.2594C>T (p.A865V) - ABCB11_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2594C>T r.(?) p.(Ala865Val) Parent #1 - likely benign g.169801131G>A g.168944621G>A - - ABCB11_000044 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118109635 Germline - 17/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 17 Mohammed Faruq
?/. - c.2610+4A>C r.spl? p.? Unknown - VUS g.169801111T>G g.168944601T>G ABCB11(NM_003742.2):c.2610+4A>C - ABCB11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2612C>T r.(?) p.(Ala871Val) Unknown - VUS g.169792942G>A g.168936432G>A ABCB11(NM_003742.2):c.2612C>T (p.A871V) - ABCB11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2665G>A r.(?) p.(Ala889Thr) Unknown - VUS g.169792889C>T g.168936379C>T ABCB11(NM_003742.2):c.2665G>A (p.A889T) - ABCB11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2907G>A r.(?) p.(Lys969=) Unknown - likely benign g.169791843C>T - ABCB11(NM_003742.4):c.2907G>A (p.K969=) - ABCB11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3011G>A r.(?) p.(Gly1004Asp) Unknown - likely pathogenic g.169791739C>T g.168935229C>T - - ABCB11_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3084A>G r.(?) p.(Ala1028=) Unknown - benign g.169789016T>C g.168932506T>C ABCB11(NM_003742.4):c.3084A>G (p.A1028=) - ABCB11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3084A>G r.(?) p.(Ala1028=) Unknown - benign g.169789016T>C g.168932506T>C ABCB11(NM_003742.4):c.3084A>G (p.A1028=) - ABCB11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3121T>C r.(?) p.(Tyr1041His) Maternal (confirmed) ACMG likely pathogenic (recessive) g.169788979A>G - - - ABCB11_000067 - PubMed: Togawa 2016 - - Germline - - - 0 - DNA SEQ - - ? NCU22 PubMed: Togawa 2016 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.3133A>T r.(?) p.(Lys1045Ter) Unknown - pathogenic g.169788967T>A - ABCB11(NM_003742.4):c.3133A>T (p.K1045*) - ABCB11_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3169C>T r.(?) p.(Arg1057*) Both (homozygous) - pathogenic (recessive) g.169788931G>A - - - ABCB11_000075 variant linked to cholestasis phenotype PubMed: Altay 2020 - - Germline - - - 0 - DNA SEQ-NG - clinical exome sequencing ? patient PubMed: Altay 2020 2-generation family, patient’s father and mother are first cousins, mother has neurofibromatosis type 1 F yes Turkey - - 0 - - 1 Johan den Dunnen
-/. - c.3330G>A r.(?) p.(Ala1110=) Unknown - benign g.169787256C>T g.168930746C>T ABCB11(NM_003742.4):c.3330G>A (p.A1110=) - ABCB11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3400C>T r.(?) p.(Gln1134Ter) Unknown - pathogenic g.169787186G>A - ABCB11(NM_003742.4):c.3400C>T (p.Q1134*) - ABCB11_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3457C>T r.(?) p.(Arg1153Cys) Unknown - pathogenic g.169783827G>A g.168927317G>A ABCB11(NM_003742.2):c.3457C>T (p.R1153C) - ABCB11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3457C>T r.(?) p.(Arg1153Cys) Unknown - pathogenic g.169783827G>A g.168927317G>A ABCB11(NM_003742.2):c.3457C>T (p.R1153C) - ABCB11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.3458G>A r.(?) p.(Arg1153His) Unknown - likely pathogenic g.169783826C>T g.168927316C>T ABCB11(NM_003742.2):c.3458G>A (p.R1153H) - ABCB11_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3491del r.(?) p.(Val1164GlyfsTer7) Unknown - pathogenic g.169783793del - ABCB11(NM_003742.4):c.3491delT (p.V1164Gfs*7) - ABCB11_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3618+19C>T r.(=) p.(=) Unknown - likely benign g.169783647G>A g.168927137G>A ABCB11(NM_003742.4):c.3618+19C>T - ABCB11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.3628A>C r.(?) p.(Thr1210Pro) Unknown - likely pathogenic g.169781304T>G g.168924794T>G ABCB11(NM_003742.2):c.3628A>C (p.T1210P) - ABCB11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3669G>C r.(?) p.(Glu1223Asp) Unknown - pathogenic g.169781263C>G g.168924753C>G ABCB11(NM_003742.2):c.3669G>C (p.E1223D) - ABCB11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.3802C>T r.(?) p.(Arg1268Trp) Maternal (confirmed) ACMG likely pathogenic (recessive) g.169780296G>A - - - ABCB11_000066 - PubMed: Togawa 2016 - - Germline - - - 0 - DNA SEQ - - ? NCU24 PubMed: Togawa 2016 - F - Japan - - 0 - - 1 Johan den Dunnen
+?/. - c.3839T>A r.(?) p.(Ile1280Asn) Unknown ACMG likely pathogenic (recessive) g.169780259A>T - - - ABCB11_000065 - PubMed: Togawa 2016 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ? NCU21 PubMed: Togawa 2016 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.3904G>T r.(?) p.(Glu1302*) Paternal (confirmed) ACMG pathogenic (recessive) g.169780194C>A - - - ABCB11_000064 - PubMed: Togawa 2016 - - Germline - - - 0 - DNA SEQ - - ? NCU22 PubMed: Togawa 2016 - M - Japan - - 0 - - 1 Johan den Dunnen
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