Full data view for gene ABCB4

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

92 entries on 1 page. Showing entries 1 - 92.
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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.135+5G>T r.spl? p.? Unknown - VUS g.87101932C>A - ABCB4(NM_000443.4):c.135+5G>T - ABCB4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140G>A r.(?) p.(Arg47Gln) Unknown - pathogenic g.87092220C>T g.87462904C>T ABCB4(NM_018849.3):c.140G>A (p.R47Q) - ABCB4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140G>A r.(?) p.(Arg47Gln) Unknown - VUS g.87092220C>T - - - ABCB4_000054 - PubMed: Huynh 2019 - - Germline - - - - - DNA SEQ - - GBD1;LPAC Pat3 PubMed: Huynh 2019 - - - - - - - - - 1 Johan den Dunnen
-/. - c.175C>T r.(?) p.(Leu59=) Unknown - benign g.87092185G>A g.87462869G>A ABCB4(NM_018849.3):c.175C>T (p.L59=) - ABCB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.175C>T r.(?) p.(Leu59=) Unknown - benign g.87092185G>A g.87462869G>A ABCB4(NM_018849.3):c.175C>T (p.L59=) - ABCB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280T>C r.(?) p.(Phe94Leu) Unknown - VUS g.87092080A>G - ABCB4(NM_000443.4):c.280T>C (p.F94L) - ABCB4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.337A>G r.(?) p.(Met113Val) Both (homozygous) - likely pathogenic g.87083858T>C g.87454542T>C - - ABCB4_000029 - PubMed: Saeed 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES obesity 29311637-Fam1 PubMed: Saeed 2018 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan Punjab - - - - 1 Johan den Dunnen
+/+ 6 c.394_400del r.394_400del p.Tyr132Lysfs*29 Both (homozygous) - pathogenic g.87082397_87082403del g.87453081_87453087del codon 132 TATATACdel - ABCB4_000001 antibody liver absence of canalicular staining PubMed: de Vree 1998, OMIM:var0001 - rs387906526 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SSCA liver biopsy - PFIC3 - PubMed: de Vree 1998 2-generation family, affected boy, unaffected heterozygous carrier parents M yes Turkey - >06y - - orthotopic liver transplantation 1 Johan den Dunnen
-/. - c.504C>T r.(?) p.(Asn168=) Unknown - benign g.87082292G>A g.87452976G>A ABCB4(NM_018849.3):c.504C>T (p.N168=) - ABCB4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.504C>T r.(?) p.(Asn168=) Unknown - benign g.87082292G>A g.87452976G>A ABCB4(NM_018849.3):c.504C>T (p.N168=) - ABCB4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.523A>G r.(?) p.(Thr175Ala) Unknown - likely benign g.87082273T>C g.87452957T>C ABCB4(NM_018849.3):c.523A>G (p.T175A) - ABCB4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.523A>G r.(?) p.(Thr175Ala) Parent #1 - likely benign g.87082273T>C g.87452957T>C - - ABCB4_000053 61 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58238559 Germline - 61/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 61 Mohammed Faruq
-?/. - c.523A>G r.(?) p.(Thr175Ala) Both (homozygous) - likely benign g.87082273T>C g.87452957T>C - - ABCB4_000053 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58238559 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.696C>T r.(?) p.(Ala232=) Unknown - benign g.87080951G>A g.87451635G>A ABCB4(NM_018849.2):c.696C>T (p.A232=) - ABCB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.711A>T r.(?) p.(Ile237=) Unknown - benign g.87079406T>A g.87450090T>A ABCB4(NM_018849.3):c.711A>T (p.I237=) - ABCB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.711A>T r.(?) p.(Ile237=) Unknown - benign g.87079406T>A g.87450090T>A ABCB4(NM_018849.3):c.711A>T (p.I237=) - ABCB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811G>A r.(?) p.(Gly271Ser) Unknown - VUS g.87079306C>T - - - ABCB4_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.832A>G r.(?) p.(Arg278Gly) Parent #1 - likely pathogenic g.87079285T>C g.87449969T>C - - ABCB4_000034 - PubMed: Huynh 2019 - - Germline ? - - - - RNA SEQ-NG-I Blood lymphocytes - GBD1;LPAC Pat5 PubMed: Huynh 2019 - F - - - - - - ursodeoxycholic acid treatment 1 Minh Tuan Huynh
+/. - c.959C>T r.(?) p.(Ser320Phe) Unknown - pathogenic g.87076396G>A g.87447080G>A ABCB4(NM_000443.4):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F) - ABCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.959C>T r.(?) p.(Ser320Phe) Unknown - likely pathogenic g.87076396G>A g.87447080G>A ABCB4(NM_000443.4):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F) - ABCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.959C>T r.(?) p.(Ser320Phe) Parent #1 - likely pathogenic (recessive) g.87076396G>A - - - ABCB4_000022 - PubMed: Stalke 2018 - - Germline - - - - - DNA SEQ - - PFIC Fam10PatLP85 PubMed: Stalke 2018 - - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.959C>T r.(?) p.(Ser320Phe) Parent #1 - likely pathogenic (recessive) g.87076396G>A - - - ABCB4_000022 - PubMed: Stalke 2018 - - Germline - - - - - DNA SEQ - - PFIC Fam11PatLP130 PubMed: Stalke 2018 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1015del r.(?) p.(Ser339Glnfs*3) Unknown - pathogenic g.87074290del - ABCB4(NM_000443.4):c.1015delT (p.S339Qfs*3) - ABCB4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1015del r.(?) p.(Ser339Glnfs*3) Unknown - pathogenic g.87074290del - ABCB4(NM_000443.4):c.1015delT (p.S339Qfs*3) - ABCB4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1280T>C r.(?) p.(Leu427Pro) Parent #1 - likely pathogenic g.87072711A>G g.87443395A>G - - ABCB4_000031 - PubMed: Huynh 2019 - - Germline yes - - - - RNA SEQ-NG-I Blood lymphocytes - ICP3 Pat1 PubMed: Huynh 2019 - F no - - - - - endoscopic biliary sphincterotomy, ursodeoxycholic acid treatment 1 Minh Tuan Huynh
+?/. - c.1283T>A r.(?) p.(Val428Asp) Unknown - likely pathogenic g.87072708A>T - ABCB4(NM_000443.4):c.1283T>A (p.V428D) - ABCB4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1307G>A r.(?) p.(Ser436Asn) Unknown - VUS g.87072684C>T - ABCB4(NM_000443.4):c.1307G>A (p.S436N) - ABCB4_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314G>A r.(?) p.(Thr438=) Unknown - likely benign g.87072677C>T - ABCB4(NM_000443.4):c.1314G>A (p.T438=), ABCB4(NM_018849.2):c.1314G>A (p.T438=) - ABCB4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314G>A r.(?) p.(Thr438=) Unknown - likely benign g.87072677C>T - ABCB4(NM_000443.4):c.1314G>A (p.T438=), ABCB4(NM_018849.2):c.1314G>A (p.T438=) - ABCB4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1356+10A>G r.(=) p.(=) Unknown - likely benign g.87072625T>C - ABCB4(NM_018849.2):c.1356+10A>G - ABCB4_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1436C>T r.(?) p.(Pro479Leu) Both (homozygous) - pathogenic g.87069639G>A g.87440323G>A - - ABCB4_000036 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+?/. - c.1529A>G r.(?) p.(Arg957*) Parent #2 - likely pathogenic (recessive) g.87069546T>C - - - ABCB4_000056 - PubMed: Stalke 2018 - - Germline - - - - - DNA SEQ - - PFIC Fam11PatLP130 PubMed: Stalke 2018 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1529A>G r.(?) p.(Asn510Ser) Unknown - pathogenic g.87069546T>C - ABCB4(NM_000443.4):c.1529A>G (p.N510S) - ABCB4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1637C>A r.(?) p.(Ala546Asp) Unknown - pathogenic g.87069077G>T g.87439761G>T - - ABCB4_000004 expression cloning of variant introduced at equivalent position in ABCB1 (MDR1) shows disrupted protein trafficking with subsequent lack of functional protein at cell surface (FACS and Western blot) PubMed: Dixon 2000, Journal: Dixon 2000, OMIM:var0004 - rs121918441 Germline - 1/8 cases SexAI- - - DNA SEQ - - ICP3 - PubMed: Dixon 2000, Journal: Dixon 2000 affected female F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 14 c.1712del r.1712del p.Val571Aspfs*16 Both (homozygous) - pathogenic g.87069002del g.87439686del 1712delT - ABCB4_000003 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999, OMIM:var0003 - rs387906527 Germline yes - TaqI- - - DNA, RNA RT-PCR, SEQ - - PFIC3 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999 4-generation family, 1 affected, 2 unaffected heterozygous carrier males, 4 heterozygous carrier females F yes France - >06y - - liver transplantation 5 Johan den Dunnen
+/. 14 c.1712del r.(?) p.(Val571Aspfs*16) Parent #1 - pathogenic g.87069002del g.87439686del 1712delT - ABCB4_000003 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999, OMIM:var0003 - - Germline yes - TaqI- - - DNA PCRdig, SEQ - - ICP3 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999 4 heterozygous carrier females F no France - - - - - 4 Johan den Dunnen
+?/. - c.1766A>C r.(?) p.(His589Pro) Parent #1 - likely pathogenic g.87060847T>G g.87431531T>G - - ABCB4_000033 - PubMed: Huynh 2019 - - Germline ? - - - - RNA SEQ-NG-I Blood lymphocytes - GBD1;LPAC Pat4 PubMed: Huynh 2019 - F no - - - - - Ursodeoxycholic acid treatment 1 Minh Tuan Huynh
?/. - c.1769G>A r.(?) p.(Arg590Gln) Unknown - VUS g.87060844C>T - ABCB4(NM_000443.4):c.1769G>A (p.R590Q), ABCB4(NM_018849.2):c.1769G>A (p.R590Q) - ABCB4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1769G>A r.(?) p.(Arg590Gln) Unknown - VUS g.87060844C>T - ABCB4(NM_000443.4):c.1769G>A (p.R590Q), ABCB4(NM_018849.2):c.1769G>A (p.R590Q) - ABCB4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1821A>C r.(?) p.(Val607=) Unknown - likely benign g.87060792T>G g.87431476T>G ABCB4(NM_018849.2):c.1821A>C (p.V607=) - ABCB4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1893G>C r.(?) p.(Gln631His) Unknown - pathogenic g.87060720C>G g.87431404C>G ABCB4(NM_000443.4):c.1893G>C (p.Q631H), ABCB4(NM_018849.2):c.1893G>C (p.Q631H) - ABCB4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1893G>C r.(?) p.(Gln631His) Unknown - likely pathogenic g.87060720C>G - ABCB4(NM_000443.4):c.1893G>C (p.Q631H), ABCB4(NM_018849.2):c.1893G>C (p.Q631H) - ABCB4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1893G>C r.(?) p.(Gln631His) Unknown - pathogenic g.87060720C>G - ABCB4(NM_000443.4):c.1893G>C (p.Q631H), ABCB4(NM_018849.2):c.1893G>C (p.Q631H) - ABCB4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1893+6T>C r.(=) p.(=) Unknown - likely benign g.87060714A>G g.87431398A>G ABCB4(NM_018849.2):c.1893+6T>C, ABCB4(NM_018849.3):c.1893+6T>C - ABCB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1893+6T>C r.(=) p.(=) Unknown - likely benign g.87060714A>G g.87431398A>G ABCB4(NM_018849.2):c.1893+6T>C, ABCB4(NM_018849.3):c.1893+6T>C - ABCB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938T>C r.(?) p.(Asp646=) Unknown - benign g.87056192A>G g.87426876A>G ABCB4(NM_018849.3):c.1938T>C (p.D646=) - ABCB4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1938T>C r.(?) p.(Asp646=) Unknown - likely benign g.87056192A>G g.87426876A>G ABCB4(NM_018849.3):c.1938T>C (p.D646=) - ABCB4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1954A>G r.(?) p.(Arg652Gly) Unknown - benign g.87056176T>C - - - ABCB4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2000C>T r.(?) p.(Thr667Ile) Unknown - VUS g.87056130G>A - ABCB4(NM_000443.4):c.2000C>T (p.T667I) - ABCB4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2034G>T r.(?) p.(Gln678His) Unknown - VUS g.87056096C>A g.87426780C>A ABCB4(NM_018849.3):c.2034G>T (p.Q678H) - ABCB4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2064+1G>C r.spl? p.? Unknown - pathogenic g.87056065C>G g.87426749C>G - - ABCB4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2144C>T r.(?) p.(Thr715Ile) Unknown - VUS g.87053289G>A - ABCB4(NM_000443.4):c.2144C>T (p.T715I) - ABCB4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2177C>T r.(?) p.(Pro726Leu) Unknown - likely pathogenic g.87053256G>A g.87423940G>A ABCB4(NM_018849.3):c.2177C>T (p.P726L) - ABCB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2211+16C>T r.(=) p.(=) Unknown - benign g.87053206G>A g.87423890G>A ABCB4(NM_018849.3):c.2211+16C>T - ABCB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2211+16C>T r.(=) p.(=) Unknown - benign g.87053206G>A g.87423890G>A ABCB4(NM_018849.3):c.2211+16C>T - ABCB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2324C>T r.(?) p.(Thr775Met) Unknown - VUS g.87049384G>A g.87420068G>A ABCB4(NM_018849.2):c.2324C>T (p.T775M) - ABCB4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2363G>A r.(?) p.(Arg788Gln) Unknown - benign g.87049345C>T g.87420029C>T ABCB4(NM_018849.3):c.2363G>A (p.R788Q) - ABCB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2363G>A r.(?) p.(Arg788Gln) Unknown - benign g.87049345C>T g.87420029C>T ABCB4(NM_018849.3):c.2363G>A (p.R788Q) - ABCB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2395-18G>A r.(=) p.(=) Unknown - likely benign g.87047954C>T g.87418638C>T ABCB4(NM_000443.4):c.2395-18G>A - ABCB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2428A>T r.(?) p.(Thr810Ser) Unknown - VUS g.87047903T>A - ABCB4(NM_000443.4):c.2428A>T (p.T810S) - ABCB4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479-5C>T r.spl? p.? Unknown - likely benign g.87046836G>A g.87417520G>A ABCB4(NM_018849.3):c.2479-5C>T - ABCB4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20i_21i c.(2478+1_2479-1)_(2682+1_2784-1)del r.? (p.Ala827Glufs*14) Unknown - pathogenic g.(87041350_87046627)_(87046832_87047852)del - - - ABCB4_000075 - - - - Germline yes - - - - DNA MLPA blood - GBD1;LPAC - - - M - Turkey - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.2507C>A r.(?) p.(Ala836Glu) Unknown - VUS g.87046803G>T g.87417487G>T ABCB4(NM_018849.3):c.2507C>A (p.A836E) - ABCB4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2509C>T r.(?) p.(Gln837*) Unknown - pathogenic g.87046801G>A - ABCB4(NM_000443.4):c.2509C>T (p.Q837*) - ABCB4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2540T>C r.(?) p.(Ile847Thr) Parent #1 - likely pathogenic g.87046770A>G g.87417454A>G - - ABCB4_000032 - PubMed: Huynh 2019 - rs769944852 Germline yes 0.00041% - - - RNA SEQ-NG-I Blood lymphocytes - ICP3 Pat2 PubMed: Huynh 2019 - F no - - - - - biliary sphincterotomy, cholecystectomy, ursodeoxycholic acid treatment 1 Minh Tuan Huynh
+?/. - c.2540T>C r.(?) p.(Ile847Thr) Unknown - likely pathogenic g.87046770A>G - - - ABCB4_000032 - PubMed: Huynh 2019 - - Germline - - - - - DNA SEQ - - GBD1;LPAC Pat3 PubMed: Huynh 2019 - - - - - - - - - 1 Johan den Dunnen
?/. - c.2577G>T r.(?) p.(Leu859Phe) Unknown - VUS g.87046733C>A - ABCB4(NM_018849.2):c.2577G>T (p.L859F) - ABCB4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2578C>T r.(?) p.(Leu860=) Unknown - likely benign g.87046732G>A - ABCB4(NM_018849.2):c.2578C>T (p.L860=) - ABCB4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2800G>A r.(?) p.(Ala934Thr) Unknown - likely pathogenic g.87041333C>T g.87412017C>T ABCB4(NM_018849.2):c.2800G>A (p.A934T), ABCB4(NM_018849.3):c.2800G>A (p.A934T) - ABCB4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2800G>A r.(?) p.(Ala934Thr) Unknown - likely pathogenic g.87041333C>T g.87412017C>T ABCB4(NM_018849.2):c.2800G>A (p.A934T), ABCB4(NM_018849.3):c.2800G>A (p.A934T) - ABCB4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2800G>A r.(?) p.(Ala934Thr) Unknown - VUS g.87041333C>T - ABCB4(NM_018849.2):c.2800G>A (p.A934T), ABCB4(NM_018849.3):c.2800G>A (p.A934T) - ABCB4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2801C>T r.(?) p.(Ala934Val) Unknown - VUS g.87041332G>A - ABCB4(NM_018849.2):c.2801C>T (p.A934V) - ABCB4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2851T>C r.(?) p.(Ser951Pro) Unknown - VUS g.87041282A>G - ABCB4(NM_018849.3):c.2851T>C (p.S951P) - ABCB4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2860G>A r.(?) p.(Gly954Ser) Unknown - likely pathogenic g.87041273C>T - ABCB4(NM_018849.3):c.2860G>A (p.G954S) - ABCB4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 23 c.2869C>T r.2869c>u p.Arg957* Unknown - pathogenic g.87041264G>A g.87411948G>A codon 957 C>T - ABCB4_000002 antibody liver absence of canalicular staining PubMed: de Vree 1998, OMIM:var0001 - rs121918440 Germline yes - - - - DNA, RNA RT-PCR, SEQ liver biopsy - PFIC3 - PubMed: de Vree 1998 2-generation family, 1 affected, unaffected heterozygous carrier first-cousin parents M yes France African, north >09y - - liver transplantation 1 Johan den Dunnen
+?/. - c.2869C>T r.(?) p.(Arg957*) Parent #2 - likely pathogenic (recessive) g.87041264G>A - - - ABCB4_000002 - PubMed: Stalke 2018 - - Germline - - - - - DNA SEQ - - PFIC Fam10PatLP85 PubMed: Stalke 2018 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.2891del r.(?) p.(Val964Glyfs*24) Unknown - pathogenic g.87041242del - ABCB4(NM_000443.4):c.2891delT (p.V964Gfs*24) - ABCB4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2908T>C r.(?) p.(Phe970Leu) Unknown - VUS g.87041225A>G g.87411909A>G - - ABCB4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3037A>C r.(?) p.(Arg1013=) Unknown - likely benign g.87038596T>G g.87409280T>G ABCB4(NM_018849.2):c.3037A>C (p.R1013=) - ABCB4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3251G>A r.(?) p.(Arg1084Gln) Unknown - VUS g.87037381C>T - - - ABCB4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3356T>A r.(?) p.(Leu1119His) Unknown - VUS g.87035755A>T - ABCB4(NM_018849.2):c.3356T>A (p.L1119H) - ABCB4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3423C>T r.(?) p.(Asp1141=) Unknown - likely benign g.87035688G>A g.87406372G>A ABCB4(NM_018849.3):c.3423C>T (p.D1141=) - ABCB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3431G>A r.(?) p.(Arg1144Gln) Unknown - VUS g.87035680C>T - ABCB4(NM_000443.4):c.3410G>A (p.R1137Q) - ABCB4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3500T>C r.(?) p.(Leu1167Ser) Both (homozygous) - VUS g.87035611A>G g.87406295A>G - - ABCB4_000030 - - - - Unknown - - - - - DNA SEQ - - - - - - F - - - - - - - 1 Gunnar Schmidt
-?/. - c.3507+10dup r.(=) p.(=) Unknown - likely benign g.87035596dup - ABCB4(NM_018849.2):c.3507+10dupA - ABCB4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3508-16T>C r.(=) p.(=) Unknown - benign g.87032613A>G g.87403297A>G ABCB4(NM_018849.3):c.3508-16T>C - ABCB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3508-16T>C r.(=) p.(=) Unknown - benign g.87032613A>G g.87403297A>G ABCB4(NM_018849.3):c.3508-16T>C - ABCB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3564G>A r.(?) p.(Gln1188=) Unknown - likely benign g.87032541C>T g.87403225C>T ABCB4(NM_018849.2):c.3564G>A (p.Q1188=) - CROT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3580C>T r.(?) p.(Arg1194Ter) Unknown - pathogenic g.87032525G>A g.87403209G>A ABCB4(NM_000443.4):c.3559C>T (p.R1187*) - ABCB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3609_3611del r.(?) p.(Leu1205del) Unknown - VUS g.87032498_87032500del g.87403182_87403184del - - ABCB4_000035 - - - - Unknown - - - - - DNA SEQ - - - - - - F - - - - - - - 1 Gunnar Schmidt
?/. - c.3789T>A r.(?) p.(His1263Gln) Unknown - VUS g.87031484A>T g.87402168A>T ABCB4(NM_018849.3):c.3789T>A (p.H1263Q) - CROT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3829G>T r.(?) p.(Val1277Phe) Unknown - VUS g.87031444C>A g.87402128C>A ABCB4(NM_018849.3):c.3829G>T (p.V1277F) - ABCB4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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