Full data view for gene ABCC2

Information The variants shown are described using the NM_000392.3 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.116= r.(=) p.(Phe39=) Unknown - benign g.101544447A>T g.99784690A>T ABCC2(NM_000392.5):c.116A>T (p.Y39F) - ABCC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136T>C r.(?) p.(Trp46Arg) Unknown - VUS g.101544467T>C - ABCC2(NM_000392.5):c.136T>C (p.W46R) - ABCC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159A>G r.(?) p.(Lys53=) Unknown - likely benign g.101544490A>G g.99784733A>G ABCC2(NM_000392.5):c.159A>G (p.K53=) - ABCC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159A>G r.(?) p.(Lys53=) Unknown - likely benign g.101544490A>G g.99784733A>G ABCC2(NM_000392.5):c.159A>G (p.K53=) - ABCC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.298C>T r.(?) p.(Arg100*) Paternal (confirmed) ACMG pathogenic (recessive) g.101552081C>T - - - ABCC2_000032 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU25 PubMed: Togawa 2016 family, 2 affected sisters F - Japan - - - - - 2 Johan den Dunnen
-?/. - c.577-3C>T r.spl? p.? Unknown - likely benign g.101554167C>T - ABCC2(NM_000392.5):c.577-3C>T - ABCC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842G>A r.(?) p.(Ser281Asn) Unknown - likely benign g.101557063G>A g.99797306G>A ABCC2(NM_000392.3):c.842G>A (p.(Ser281Asn)) - ABCC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.842G>A r.(?) p.(Ser281Asn) Parent #1 - VUS g.101557063G>A g.99797306G>A - - ABCC2_000009 conflicting interpretations of pathogenicity; 12 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56131651 Germline - 12/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
?/. - c.842G>A r.(?) p.(Ser281Asn) Both (homozygous) - VUS g.101557063G>A g.99797306G>A - - ABCC2_000009 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56131651 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.908A>G r.(?) p.(Lys303Arg) Unknown - likely benign g.101559004A>G - ABCC2(NM_000392.5):c.908A>G (p.K303R) - ABCC2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058G>A r.(?) p.(Arg353His) Parent #1 - likely benign g.101560169G>A g.99800412G>A - - ABCC2_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7080681 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.1219C>T r.(?) p.(Leu407=) Unknown - benign g.101563785C>T g.99804028C>T ABCC2(NM_000392.5):c.1219C>T (p.L407=) - ABCC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1249G>A r.(?) p.(Val417Ile) Unknown - benign g.101563815G>A g.99804058G>A ABCC2(NM_000392.5):c.1249G>A (p.V417I) - ABCC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1446C>G r.(=) p.(=) Parent #1 - likely benign g.101564012C>G g.99804255C>G - - ABCC2_000025 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113646094 Germline - 9/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.1483A>G r.(?) p.(Lys495Glu) Unknown - VUS g.101565157A>G g.99805400A>G ABCC2(NM_000392.5):c.1483A>G (p.K495E) - ABCC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1483A>G r.(?) p.(Lys495Glu) Parent #1 - benign g.101565157A>G g.99805400A>G - - ABCC2_000021 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17222561 Germline - 24/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
?/. - c.1596G>A r.(?) p.(Glu532=) Unknown ACMG VUS g.101567206G>A g.99807449G>A - - ABCC2_000056 - - - - De novo - 1/12 patients - - - DNA MS, SEQ-NG-I blood - ADHD 013C - - M ? Hong Kong Chinese - - - - 1 Larry Baum
?/. - c.1602G>T r.(?) p.(Lys534Asn) Unknown - VUS g.101567212G>T - ABCC2(NM_000392.5):c.1602G>T (p.K534N) - ABCC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1815+2T>A r.spl p.? Maternal (confirmed) ACMG pathogenic (recessive) g.101567988T>A - - - ABCC2_000033 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - DJS NCU12 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
-?/. - c.1860T>A r.(?) p.(Asp620Glu) Unknown - likely benign g.101569935T>A g.99810178T>A ABCC2(NM_000392.5):c.1860T>A (p.D620E) - ABCC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 19 c.1967+1G>A r.spl p.? Unknown - likely pathogenic (recessive) g.101571360G>A g.99811603G>A - - ABCC2_000011 - - - - Unknown - - - - - DNA SEQ-NG-I Blood WES DJS - - - M - Russia - >05y - - - 1 Valeriia Apukhtina
+/. - c.1967+2T>C r.spl p.? Unknown ACMG pathogenic (recessive) g.101571361T>C - - - ABCC2_000034 - PubMed: Togawa 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? NCU27 PubMed: Togawa 2016 family, 2 affected sisters F - Japan - - - - - 2 Johan den Dunnen
+?/. - c.2153del r.(?) p.(Asn718Thrfs*42) Unknown - likely pathogenic g.101577123del - ABCC2(NM_000392.5):c.2153delA (p.N718Tfs*42) - ABCC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - pathogenic g.101578577C>T g.99818820C>T ABCC2(NM_000392.5):c.2302C>T (p.R768W) - ABCC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2302C>T r.(?) p.(Arg768Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.101578577C>T - - - ABCC2_000022 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - DJS NCU13 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.2302C>T r.(?) p.(Arg768Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.101578577C>T - - - ABCC2_000022 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - DJS NCU12 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown ACMG pathogenic (recessive) g.101578577C>T - - - ABCC2_000022 - PubMed: Togawa 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? NCU27 PubMed: Togawa 2016 family, 2 affected sisters F - Japan - - - - - 2 Johan den Dunnen
?/. - c.2369C>T r.(?) p.(Ala790Val) Unknown - VUS g.101578644C>T g.99818887C>T ABCC2(NM_000392.3):c.2369C>T (p.(Ala790Val)) - ABCC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2380C>T r.(?) p.(His794Tyr) Unknown - VUS g.101578655C>T - ABCC2(NM_000392.5):c.2380C>T (p.H794Y) - ABCC2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2408T>C r.(?) p.(Val803Ala) Parent #1 - VUS g.101578683T>C g.99818926T>C - - ABCC2_000026 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148835620 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2439+2T>C r.spl p.? Maternal (confirmed) ACMG pathogenic (recessive) g.101578716T>C - - - ABCC2_000035 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU25 PubMed: Togawa 2016 family, 2 affected sisters F - Japan - - - - - 2 Johan den Dunnen
-?/. - c.2440-11T>C r.= p.= Paternal (confirmed) - likely benign g.101578835T>C g.99819078T>C - - ABCC2_000006 RT-PCR showed no abberrant splicing PubMed: Papuc 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ-NG-I blood WES EE 72440 - - M no Eritrea - - - - - 1 Anaïs Begemann
+?/. - c.2443C>T r.(?) p.(Arg815*) Unknown - likely pathogenic (recessive) g.101578849C>T g.99819092C>T - - ABCC2_000018 - - - - Unknown - - - - - DNA SEQ-NG-I Blood WES DJS - - - M - Russia - >05y - - - 1 Valeriia Apukhtina
-?/. - c.2461A>G r.(?) p.(Ser821Gly) Unknown - likely benign g.101578867A>G - ABCC2(NM_000392.5):c.2461A>G (p.S821G) - ABCC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2546T>G r.(?) p.(Leu849Arg) Parent #1 - likely benign g.101578952T>G g.99819195T>G - - ABCC2_000027 30 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17222617 Germline - 30/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 30 Mohammed Faruq
+?/. - c.2561_2562del r.(?) p.(Glu854Valfs*3) Both (homozygous) ACMG likely pathogenic g.101578967_101578968del g.99819210_99819211del ABCC2,NM_000392.3,c.2561_2562del, - ABCC2_000050 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 26 PubMed: Alfares 2018 - F - - - - - - - 1 LOVD
?/. 20 c.2714G>T r.(?) p.(Arg905Ile) Both (homozygous) - VUS g.101590157G>T g.99830400G>T - - ABCC2_000001 - - - - Germline - - - - - DNA SEQ-NG Blood - ALS ALS-518 - 6 generation family, 10 affected (DNA available from 1F, 3M), unaffected heterozygous carrier parents F yes Turkey white - - - - 4 Ceren Tunca
?/. 20 c.2714G>T r.(?) p.(Arg905Ile) Both (homozygous) - VUS g.101590157G>T g.99830400G>T - - ABCC2_000001 - - - - Germline - - - - - DNA SEQ-NG - - ALS ALS-856 - - M yes Turkey - - - - - 1 Ceren Tunca
?/. 20 c.2714G>T r.(?) p.(Arg905Ile) Both (homozygous) - VUS g.101590157G>T g.99830400G>T - - ABCC2_000001 - - - - Germline - - - - - DNA SEQ-NG - - ALS ALS-869 - - M yes Turkey - - - - - 1 Ceren Tunca
?/. 20 c.2714G>T r.(?) p.(Arg905Ile) Both (homozygous) - VUS g.101590157G>T g.99830400G>T - - ABCC2_000001 - - - - Germline - - - - - DNA PCR - - ALS ALS-1077 - - M yes Turkey - - - - - 1 Ceren Tunca
?/. - c.2723G>A r.(?) p.(Ser908Asn) Unknown - VUS g.101590166G>A - ABCC2(NM_000392.5):c.2723G>A (p.S908N) - ABCC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2882A>G r.spl p.? Maternal (confirmed) ACMG likely pathogenic (recessive) g.101590607A>G - - - ABCC2_000036 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - DJS NCU13 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.2901C>A r.(?) p.(Tyr967*) Parent #1 - pathogenic g.101591385C>A g.99831628C>A - - ABCC2_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17222547 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.3114G>A r.(?) p.(Val1038=) Unknown - likely benign g.101591744G>A g.99831987G>A ABCC2(NM_000392.5):c.3114G>A (p.V1038=) - ABCC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3196C>T r.(?) p.(Arg1066*) Unknown - VUS g.101591826C>T g.99832069C>T - - ABCC2_000007 - PubMed: Lhota 2016 - rs72558199 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
+?/. - c.3196C>T r.(?) p.(Arg1066*) Unknown - VUS g.101591826C>T g.99832069C>T - - ABCC2_000007 - PubMed: Lhota 2016 - rs72558199 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.3236G>A r.(?) p.(Arg1079Gln) Unknown - VUS g.101591866G>A g.99832109G>A ABCC2(NM_000392.5):c.3236G>A (p.R1079Q) - ABCC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3236G>A r.(?) p.(Arg1079Gln) Parent #1 - VUS g.101591866G>A g.99832109G>A - - ABCC2_000015 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145672804 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.3255C>T r.(?) p.(Ala1085=) Unknown - likely benign g.101591885C>T - ABCC2(NM_000392.5):c.3255C>T (p.A1085=) - ABCC2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3258+1G>A r.spl? p.? Unknown - pathogenic g.101591889G>A g.99832132G>A - - ABCC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23i c.3258+1G>A r.3104_3258del p.Ile1036Tyrfs*6 Maternal (confirmed) - pathogenic g.101591889G>A g.99832132G>A - - ABCC2_000005 RT-PCR showed skipping of exon 23 PubMed: Papuc 2019 - rs762243203 Germline - - - - - DNA, RNA RT-PCR, SEQ-NG-I blood WES EE 72440 - - M no Eritrea - - - - - 1 Anaïs Begemann
+?/. - c.3298C>A r.(?) p.(Arg1100Ser) Paternal (confirmed) - VUS g.101594176C>A g.99834419C>A - - ABCC2_000019 - PubMed: Wong 2019, Journal: Wong 2019 - rs142715085 Germline - - - - - DNA SEQ-NG-I - - FH Fam2PatI1 PubMed: Wong 2019, Journal: Wong 2019 2-generation family, 2 homozygous affected sisters (I1, I3), heterozygous carrier parents F - Mexico Hispanic 02y - - - 1 Karen HY Wong
+/. - c.3315C>A r.(?) p.(Cys1105Ter) Unknown - pathogenic g.101594193C>A - ABCC2(NM_000392.5):c.3315C>A (p.C1105*) - ABCC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3449G>A r.(?) p.(Arg1150His) Parent #1 - pathogenic g.101595882G>A g.99836125G>A - - ABCC2_000029 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72558200 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.3542G>T r.(?) p.(Arg1181Leu) Parent #1 - likely benign g.101595975G>T g.99836218G>T - - ABCC2_000030 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs8187692 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.3542G>T r.(?) p.(Arg1181Leu) Unknown - benign g.101595975G>T - ABCC2(NM_000392.5):c.3542G>T (p.(Arg1181Leu)) - ABCC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3547C>A r.(?) p.(Leu1183Met) Unknown - VUS g.101595980C>A - ABCC2(NM_000392.5):c.3547C>A (p.L1183M) - ABCC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3615G>T r.(?) p.(Arg1205Ser) Unknown - VUS g.101601724G>T - ABCC2(NM_000392.5):c.3615G>T (p.R1205S) - ABCC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3844-3del r.spl? p.? Unknown - VUS g.101604076del - ABCC2(NM_000392.3):c.3844-3delC (p.?) - ABCC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3972C>T r.(?) p.(Ile1324=) Unknown - benign g.101604207C>T g.99844450C>T ABCC2(NM_000392.5):c.3972C>T (p.I1324=) - ABCC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4290G>T r.(?) p.(Val1430=) Unknown - likely benign g.101606861G>T - ABCC2(NM_000392.5):c.4290G>T (p.V1430=) - ABCC2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4348G>T r.(?) p.(Ala1450Ser) Unknown - likely benign g.101610393G>T - ABCC2(NM_000392.5):c.4348G>T (p.A1450S) - ABCC2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4430C>T r.(?) p.(Thr1477Met) Unknown - likely benign g.101610475C>T - ABCC2(NM_000392.5):c.4430C>T (p.T1477M) - ABCC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4509-9T>C r.(=) p.(=) Unknown - likely benign g.101611250T>C - ABCC2(NM_000392.5):c.4509-9T>C - ABCC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4527C>T r.(?) p.(Asn1509=) Unknown - likely benign g.101611277C>T g.99851520C>T ABCC2(NM_000392.5):c.4527C>T (p.N1509=) - ABCC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4544G>A r.(?) p.(Cys1515Tyr) Parent #1 - likely benign g.101611294G>A g.99851537G>A - - ABCC2_000031 74 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs8187710 Germline - 74/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 74 Mohammed Faruq
-?/. - c.4544G>A r.(?) p.(Cys1515Tyr) Both (homozygous) - likely benign g.101611294G>A g.99851537G>A - - ABCC2_000031 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs8187710 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.4568A>C r.(?) p.(Gln1523Pro) Unknown - likely benign g.101611318A>C - ABCC2(NM_000392.5):c.4568A>C (p.Q1523P) - ABCC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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