All variants in the MAB21L2 gene

Information The variants shown are described using the NM_006439.4 transcript reference sequence.

169 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-317317C>A r.(?) p.(=) - likely benign g.151186865C>A g.150265713C>A - - LRBA_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-317300G>A r.(?) p.(=) - VUS g.151186882G>A g.150265730G>A LRBA(NM_001199282.2):c.8548C>T (p.R2850C) - LRBA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-317300G>A r.(?) p.(=) - VUS g.151186882G>A g.150265730G>A LRBA(NM_001199282.2):c.8548C>T (p.R2850C) - LRBA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-317276G>A r.(?) p.(=) - VUS g.151186906G>A - LRBA(NM_006726.4):c.8560C>T (p.R2854W) - LRBA_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-305170C>T r.(?) p.(=) - VUS g.151199012C>T - LRBA(NM_001367550.1):c.8476G>A (p.D2826N) - LRBA_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-305169G>A r.(?) p.(=) - likely benign g.151199013G>A g.150277861G>A LRBA(NM_001199282.2):c.8457C>T (p.Y2819=) - LRBA_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-305112C>G r.(?) p.(=) - likely benign g.151199070C>G g.150277918C>G LRBA(NM_001199282.2):c.8400G>C (p.K2800N) - LRBA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-305102G>A r.(?) p.(=) - benign g.151199080G>A - - - LRBA_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-305092G>A r.(?) p.(=) - VUS g.151199090G>A - LRBA(NM_001367550.1):c.8398C>T (p.R2800W) - LRBA_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-305027G>A r.(?) p.(=) - VUS g.151199155G>A g.150278003G>A LRBA(NM_001199282.2):c.8315C>T (p.A2772V) - LRBA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-300511G>A r.(?) p.(=) - likely benign g.151203671G>A g.150282519G>A LRBA(NM_001199282.2):c.8244C>T (p.N2748=) - LRBA_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-297088C>T r.(?) p.(=) - VUS g.151207094C>T g.150285942C>T - - LRBA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-297084C>G r.(?) p.(=) - benign g.151207098C>G g.150285946C>G LRBA(NM_001199282.2):c.8103G>C (p.L2701F) - LRBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-297066C>T r.(?) p.(=) - benign g.151207116C>T g.150285964C>T LRBA(NM_001199282.2):c.8085G>A (p.A2695=) - LRBA_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-297055C>T r.(?) p.(=) - benign g.151207127C>T - - - LRBA_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-297039A>G r.(?) p.(=) - likely benign g.151207143A>G g.150285991A>G LRBA(NM_001199282.2):c.8058T>C (p.Y2686=) - LRBA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-297027G>A r.(?) p.(=) - likely benign g.151207155G>A g.150286003G>A LRBA(NM_001199282.2):c.8046C>T (p.T2682=) - LRBA_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-297010G>A r.(?) p.(=) - likely benign g.151207172G>A g.150286020G>A LRBA(NM_001199282.2):c.8029C>T (p.(Pro2677Ser)) - LRBA_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-297002G>A r.(?) p.(=) - likely benign g.151207180G>A g.150286028G>A LRBA(NM_001199282.2):c.8021C>T (p.T2674I) - LRBA_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-272811T>C r.(?) p.(=) - benign g.151231371T>C g.150310219T>C LRBA(NM_001199282.2):c.7849+10A>G - LRBA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-272811T>C r.(?) p.(=) - benign g.151231371T>C g.150310219T>C LRBA(NM_001199282.2):c.7849+10A>G - LRBA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.-272792T>C r.(?) p.(=) - VUS g.151231390T>C g.150310238T>C LRBA(NM_001199282.2):c.7840A>G (p.T2614A) - LRBA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-272753C>T r.(?) p.(=) - likely benign g.151231429C>T g.150310277C>T LRBA(NM_001199282.2):c.7801G>A (p.V2601I) - LRBA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-267489G>A r.(?) p.(=) - likely benign g.151236693G>A g.150315541G>A LRBA(NM_001199282.2):c.7693+20C>T - LRBA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-261773T>G r.(?) p.(=) - likely benign g.151242409T>G g.150321257T>G LRBA(NM_001199282.2):c.7564A>C (p.T2522P) - LRBA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-261760C>T r.(?) p.(=) - likely benign g.151242422C>T g.150321270C>T LRBA(NM_001199282.2):c.7551G>A (p.Q2517=) - LRBA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-232866A>G r.(?) p.(=) - likely benign g.151271316A>G g.150350164A>G LRBA(NM_001199282.2):c.7195-5T>C - LRBA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.-147419T>C r.(?) p.(=) - VUS g.151356763T>C g.150435611T>C LRBA(NM_001199282.2):c.7019A>G (p.Q2340R) - LRBA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-147419T>C r.(?) p.(=) - VUS g.151356763T>C g.150435611T>C LRBA(NM_001199282.2):c.7019A>G (p.Q2340R) - LRBA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-146306T>C r.(?) p.(=) - VUS g.151357876T>C g.150436724T>C LRBA(NM_001199282.2):c.6921A>G (p.I2307M) - LRBA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-146272G>T r.(?) p.(=) - VUS g.151357910G>T - LRBA(NM_001367550.1):c.6887C>A (p.T2296N) - LRBA_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.-146212C>T r.(?) p.(=) - VUS g.151357970C>T - LRBA(NM_006726.4):c.6860G>A (p.R2287H) - LRBA_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-146159A>G r.(?) p.(=) - likely benign g.151358023A>G g.150436871A>G LRBA(NM_001199282.2):c.6781-7T>C - LRBA_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-111403C>T r.(?) p.(=) - VUS g.151392779C>T - - - LRBA_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-111361C>T r.(?) p.(=) - VUS g.151392821C>T g.150471669C>T LRBA(NM_001199282.2):c.6622G>A (p.E2208K) - LRBA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-111313G>A r.(?) p.(=) - VUS g.151392869G>A - LRBA(NM_001367550.1):c.6574C>T (p.R2192C) - LRBA_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-95273T>C r.(?) p.(=) - likely benign g.151408909T>C g.150487757T>C LRBA(NM_001199282.2):c.6526A>G (p.(Thr2176Ala)) - LRBA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-92133C>T r.(?) p.(=) - benign g.151412049C>T g.150490897C>T LRBA(NM_001199282.2):c.6448+21G>A - LRBA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-92129T>C r.(?) p.(=) - likely benign g.151412053T>C g.150490901T>C LRBA(NM_001199282.2):c.6448+17A>G - LRBA_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-91996A>C r.(?) p.(=) - VUS g.151412186A>C g.150491034A>C LRBA(NM_001199282.2):c.6332T>G (p.I2111S) - LRBA_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-91990T>C r.(?) p.(=) - likely benign g.151412192T>C - LRBA(NM_006726.4):c.6364-5A>G - LRBA_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.65C>A r.(?) p.(Ala22Glu) - VUS g.151504246C>A g.150583094C>A MAB21L2(NM_006439.4):c.65C>A (p.A22E) - LRBA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.118G>C r.(?) p.(Asp40His) - likely benign g.151504299G>C g.150583147G>C MAB21L2(NM_006439.4):c.118G>C (p.D40H) - LRBA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.152G>A r.(?) p.(Arg51His) - likely pathogenic g.151504333G>A g.150583181G>A - - LRBA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.285C>T r.(?) p.(Pro95=) - likely benign g.151504466C>T g.150583314C>T MAB21L2(NM_006439.4):c.285C>T (p.P95=) - LRBA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.290G>A r.(?) p.(Cys97Tyr) - VUS g.151504471G>A g.150583319G>A MAB21L2(NM_006439.4):c.290G>A (p.C97Y) - LRBA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.353C>A r.(?) p.(Thr118Lys) - VUS g.151504534C>A g.150583382C>A MAB21L2(NM_006439.4):c.353C>A (p.T118K) - LRBA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.439G>T r.(?) p.(Asp147Tyr) - likely benign g.151504620G>T - LRBA(NM_006726.4):c.6363+4580C>A - LRBA_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.457G>A r.(?) p.(Ala153Thr) - likely benign g.151504638G>A g.150583486G>A MAB21L2(NM_006439.4):c.457G>A (p.A153T) - LRBA_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.568C>A r.(?) p.(Pro190Thr) - VUS g.151504749C>A - MAB21L2(NM_006439.5):c.568C>A (p.P190T) - LRBA_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.840C>G r.(?) p.(Tyr280*) ACMG pathogenic g.151505021C>G g.150583869C>G - - MAB21L2_000002 ACMG PVS1, PM2, PM6 PubMed: Patel 2017 - - Germline/De novo (untested) - - - 0 - LOVD
+/. - c.881C>A r.(?) p.(Ser294Ter) ACMG pathogenic (dominant) g.151505062C>A g.150583910C>A - - MAB21L2_000003 ACMG PVS1, PM2, PP3 PubMed: Marinakis 2021 - - Germline/De novo (untested) - - - 0 - Jan Traeger-Synodinos
-?/. - c.954C>T r.(?) p.(His318=) - likely benign g.151505135C>T g.150583983C>T MAB21L2(NM_006439.4):c.954C>T (p.H318=), MAB21L2(NM_006439.5):c.954C>T (p.H318=) - LRBA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.954C>T r.(?) p.(His318=) - likely benign g.151505135C>T g.150583983C>T MAB21L2(NM_006439.4):c.954C>T (p.H318=), MAB21L2(NM_006439.5):c.954C>T (p.H318=) - LRBA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1045A>G r.(?) p.(Ile349Val) - likely benign g.151505226A>G g.150584074A>G MAB21L2(NM_006439.4):c.1045A>G (p.I349V) - MAB21L2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*6634C>T r.(=) p.(=) - likely benign g.151511895C>T g.150590743C>T LRBA(NM_001199282.2):c.6163G>A (p.V2055M) - LRBA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*6748T>G r.(=) p.(=) - likely benign g.151512009T>G g.150590857T>G LRBA(NM_001199282.2):c.6049A>C (p.T2017P) - LRBA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*12974C>A r.(=) p.(=) - likely benign g.151518235C>A g.150597083C>A LRBA(NM_006726.4):c.6079G>T (p.(Ala2027Ser)) - LRBA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*14908G>A r.(=) p.(=) - likely benign g.151520169G>A - LRBA(NM_001199282.2):c.6036C>T (p.A2012=) - LRBA_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*14955G>A r.(=) p.(=) - likely benign g.151520216G>A g.150599064G>A LRBA(NM_001199282.2):c.5989C>T (p.(Arg1997Cys), p.R1997C) - LRBA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*14955G>A r.(=) p.(=) - likely benign g.151520216G>A g.150599064G>A LRBA(NM_001199282.2):c.5989C>T (p.(Arg1997Cys), p.R1997C) - LRBA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*14955G>A r.(=) p.(=) - benign g.151520216G>A g.150599064G>A LRBA(NM_001199282.2):c.5989C>T (p.(Arg1997Cys), p.R1997C) - LRBA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*15002C>T r.(=) p.(=) - VUS g.151520263C>T g.150599111C>T LRBA(NM_001199282.2):c.5942G>A (p.R1981H) - LRBA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*99626A>G r.(=) p.(=) - likely benign g.151604887A>G - LRBA(NM_006726.4):c.5755-18T>C - LRBA_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*99626del r.(?) p.(=) - likely benign g.151604887del g.150683735del LRBA(NM_001199282.2):c.5755-10delT - LRBA_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*151159G>A r.(=) p.(=) - VUS g.151656420G>A g.150735268G>A LRBA(NM_001199282.2):c.5744C>T (p.A1915V) - LRBA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*177744A>T r.(=) p.(=) - likely benign g.151683005A>T g.150761853A>T LRBA(NM_001199282.2):c.5581-6T>A - LRBA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*177752del r.(?) p.(=) - likely benign g.151683013del g.150761861del LRBA(NM_001199282.2):c.5581-5delT - LRBA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*214002A>G r.(=) p.(=) - benign g.151719263A>G - - - LRBA_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*222298A>G r.(=) p.(=) - likely benign g.151727559A>G g.150806407A>G LRBA(NM_001199282.2):c.5385-3T>C - LRBA_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*224226G>A r.(=) p.(=) - VUS g.151729487G>A - LRBA(NM_006726.4):c.5369C>T (p.P1790L) - LRBA_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*233062G>A r.(=) p.(=) - VUS g.151738323G>A - LRBA(NM_006726.4):c.5258C>T (p.S1753F) - LRBA_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*233079A>G r.(=) p.(=) - likely benign g.151738340A>G g.150817188A>G LRBA(NM_001199282.2):c.5241T>C (p.N1747=) - LRBA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*244051C>T r.(=) p.(=) - benign g.151749312C>T - - - LRBA_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*244093C>T r.(=) p.(=) - VUS g.151749354C>T - LRBA(NM_006726.4):c.5149G>A (p.V1717M) - LRBA_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*244212T>C r.(=) p.(=) - VUS g.151749473T>C - LRBA(NM_006726.4):c.5030A>G (p.N1677S) - LRBA_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*244335G>C r.(=) p.(=) - VUS g.151749596G>C - LRBA(NM_006726.4):c.4907C>G (p.A1636G) - LRBA_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*244498C>T r.(=) p.(=) - likely benign g.151749759C>T - LRBA(NM_001199282.2):c.4744G>A (p.A1582T) - LRBA_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*247690T>C r.(=) p.(=) - likely benign g.151752951T>C g.150831799T>C LRBA(NM_001199282.2):c.4729+18A>G - LRBA_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*247724C>T r.(=) p.(=) - benign g.151752985C>T g.150831833C>T LRBA(NM_001199282.2):c.4713G>A (p.E1571=) - LRBA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*247743T>C r.(=) p.(=) - likely benign g.151753004T>C g.150831852T>C LRBA(NM_001367550.1):c.4694A>G (p.E1565G) - LRBA_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*247846A>C r.(=) p.(=) - VUS g.151753107A>C g.150831955A>C LRBA(NM_001199282.2):c.4591T>G (p.F1531V) - LRBA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*247873A>T r.(=) p.(=) - likely benign g.151753134A>T - LRBA(NM_006726.4):c.4570-6T>A - LRBA_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*259982G>A r.(=) p.(=) - benign g.151765243G>A g.150844091G>A LRBA(NM_001199282.2):c.4569+9C>T - LRBA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.*259982G>A r.(=) p.(=) - benign g.151765243G>A g.150844091G>A LRBA(NM_001199282.2):c.4569+9C>T - LRBA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*260633T>C r.(=) p.(=) - likely benign g.151765894T>C g.150844742T>C LRBA(NM_001199282.2):c.4377A>G (p.Q1459=) - LRBA_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*264691C>T r.(=) p.(=) - likely benign g.151769952C>T g.150848800C>T LRBA(NM_001199282.2):c.4339+18G>A - LRBA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*264725C>A r.(=) p.(=) - likely benign g.151769986C>A - LRBA(NM_001199282.2):c.4323G>T (p.R1441=) - LRBA_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*265347A>C r.(=) p.(=) - VUS g.151770608A>C - LRBA(NM_001367550.1):c.4124T>G (p.I1375R) - LRBA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*265477A>G r.(=) p.(=) - likely benign g.151770738A>G - LRBA(NM_006726.4):c.4005-11T>C - LRBA_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*266671T>C r.(=) p.(=) - benign g.151771932T>C g.150850780T>C LRBA(NM_001199282.2):c.3948A>G (p.Q1316=) - LRBA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*266671T>C r.(=) p.(=) - likely benign g.151771932T>C g.150850780T>C LRBA(NM_001199282.2):c.3948A>G (p.Q1316=) - LRBA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*266760T>C r.(=) p.(=) - likely benign g.151772021T>C - LRBA(NM_006726.4):c.3859A>G (p.I1287V) - LRBA_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*266807T>G r.(=) p.(=) - likely benign g.151772068T>G g.150850916T>G LRBA(NM_001199282.2):c.3826-14A>C - LRBA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*267912C>T r.(=) p.(=) - benign g.151773173C>T g.150852021C>T LRBA(NM_001199282.2):c.3689G>A (p.G1230D) - LRBA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*267917A>G r.(=) p.(=) - likely benign g.151773178A>G g.150852026A>G LRBA(NM_001199282.2):c.3684T>C (p.C1228=) - LRBA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*268033T>C r.(=) p.(=) - likely benign g.151773294T>C - LRBA(NM_006726.4):c.3568A>G (p.M1190V) - LRBA_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*268102T>C r.(=) p.(=) - likely benign g.151773363T>C g.150852211T>C LRBA(NM_001199282.2):c.3499A>G (p.T1167A) - LRBA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*268332G>C r.(=) p.(=) - benign g.151773593G>C g.150852441G>C LRBA(NM_001199282.2):c.3269C>G (p.A1090G) - LRBA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*268332G>C r.(=) p.(=) - benign g.151773593G>C g.150852441G>C LRBA(NM_001199282.2):c.3269C>G (p.A1090G) - LRBA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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