Unique variants in the AMT gene

Information The variants shown are described using the NM_000481.3 transcript reference sequence.

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

Reported     

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     
?/. 1 - c.-3530C>T r.(?) p.(=) - VUS g.49463413G>A g.49425980G>A NICN1(NM_032316.3):c.326C>T (p.(Ala109Val)) - NICN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-2527A>G r.(?) p.(=) - likely benign g.49462410T>C g.49424977T>C NICN1(NM_032316.3):c.572A>G (p.(His191Arg)) - NICN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-76G>C r.(?) p.(=) - VUS g.49459959C>G - AMT(NM_000481.3):c.-76G>C - AMT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 1 c.-66A>G r.(=) p.(=) - pathogenic g.49459949T>C g.49422516T>C 1-66A>G - AMT_000036 - - - - Germline yes - - - - Johan Van Hove
+/. 1 1 c.-64A>G r.(=) p.(=) - pathogenic g.49459947T>C g.49422514T>C 1-64A>G - AMT_000035 - - - - Germline yes - - - - Johan Van Hove
+/. 2 1 c.-58C>T r.(=) p.(=) - pathogenic g.49459941G>A g.49422508G>A 1-58C>T - AMT_000034 - - - - Germline yes - - - - Johan Van Hove
?/?, +/. 3 1 c.-55C>T r.(?), r.(=) p.(=) - VUS, pathogenic g.49459938G>A g.49422505G>A 1-55C>T - AMT_000001 1 GCE patient (com-het) PubMed: Pardal-Fernandez et al. 2009 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 7 1 c.2T>C r.(?) p.(Met1?) - pathogenic g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - - - Johan Van Hove
+/. 1 1 c.4C>T r.(?) p.(Gln2*) - pathogenic g.49459880G>A g.49422447G>A - - AMT_000032 - - - - Germline yes - - - - Johan Van Hove
+/. 2 1 c.14dup r.(?) p.(Ser6Lysfs*22) - pathogenic g.49459870dup g.49422437dup - - AMT_000031 - - - - Germline yes - - - - Johan Van Hove
+/. 8 1 c.15_18del r.(?) p.(Ser6TrpfsTer89), p.(Ser6Trpfs*89) - pathogenic g.49459868_49459871del g.49422435_49422438del 15_18delAAGT, 15_18del4 - AMT_000030, AMT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Johan Van Hove
+/. 2 1 c.16del r.(?) p.(Ser6Valfs*90) - pathogenic g.49459869del g.49422436del - - AMT_000029 - - - - Germline yes - - - - Johan Van Hove
+/+ 1 1 c.59del r.(?) p.(Pro20Argfs*76) - pathogenic g.49459830del g.49422397del 183delC, c.54delC - AMT_000002 1 Japanese GCE family with 3 patients (P25; com-het) PubMed: Kure et al.1998, PubMed: Kure et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 1 c.61del r.(?) p.(Ala21Profs*75) - pathogenic g.49459824del g.49422391del c.60delG - AMT_000003 1 Caucasian GCE family (P30; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 1 c.63del r.(?) p.(Leu22Cysfs*74) - pathogenic g.49459822del g.49422389del c.61delC - AMT_000004 No C in position 61, nex C:s in positions c.62_63; 1 Oriental GCE family (P91; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.101G>A r.(?) p.(Arg34His) - VUS g.49459694C>T g.49422261C>T AMT(NM_000481.3):c.101G>A (p.R34H) - AMT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.125A>G r.(125a>g) p.(His42Arg) - pathogenic g.49459670T>C g.49422237T>C - - AMT_000005 1 Israeli-Arab GCE family (hom) PubMed: Kure et al. 1998, PubMed: Kure et al. 2006 - rs121964983 SUMMARY record yes - - - - Anne Polvi
+/+, +/. 5 2 c.139G>A r.(139g>a), r.(?) p.(Gly47Arg) - pathogenic g.49459656C>T g.49422223C>T - - AMT_000006 1 GCE family (com-het) PubMed: Nanao et al. 1994 - rs121964982 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/+ 1 2 c.139G>T r.(139g>u) p.(Gly47Trp) - pathogenic g.49459656C>A g.49422223C>A - - AMT_000008 1 Caucasian GCE family (P34; het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 2 c.148del r.(?) p.(Val50Trpfs*46) - pathogenic g.49459648del g.49422215del c.147delG - AMT_000009 1 Oriental GCE family (P115; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/. 2 2 c.178_181del r.(?) p.(Gln60Thrfs*35) - pathogenic g.49459614_49459617del g.49422181_49422184del 178_181delCAGT - AMT_000074 - - - - Germline yes - - - - Johan Van Hove
?/. 1 - c.203C>T r.(?) p.(Ser68Leu) - VUS g.49459592G>A g.49422159G>A AMT(NM_000481.3):c.203C>T (p.S68L) - AMT_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+, +/. 3 2 c.212A>C r.(212a>c), r.(?) p.(His71Pro) - pathogenic g.49459583T>G g.49422150T>G - - AMT_000010 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 - rs149105054 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/+, +/. 9 2 c.217C>T r.(217c>u), r.(?) p.(Arg73Cys) - pathogenic g.49459578G>A g.49422145G>A - - AMT_000011 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/+, +/. 5 2 c.230C>T r.(230c>u), r.(?) p.(Ser77Leu) - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 1 Caucasian GCE family (P21; hom) PubMed: Kure et al. 2006 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 4 2 c.248A>G r.(?) p.(His83Arg) - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - - - Johan Van Hove
-?/. 1 - c.258+242A>G r.(=) p.(=) - likely benign g.49459295T>C g.49421862T>C AMT(NM_000481.3):c.258+242A>G - AMT_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.259-109T>G r.(=) p.(=) - likely benign g.49459114A>C g.49421681A>C AMT(NM_000481.3):c.259-109T>G - AMT_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, +/. 3 2i c.259-1G>C r.spl? p.?, p.(Thr87_Gln113del) - pathogenic g.49459006C>G g.49421573C>G IVS2-1G>C, 259-1>C - AMT_000013 1 GCE family (com-het) PubMed: Pardal-Fernandez et al. 2009 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/., +?/. 10 3 c.280C>T r.(?), r.280c>u p.(Arg94Trp), p.Arg94Trp - pathogenic, likely pathogenic g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - - - Johan Van Hove, Pilar Rodriguez Pombo
+/. 2 3 c.293T>G r.(?) p.(Met98Arg) - pathogenic g.49458971A>C g.49421538A>C - - AMT_000071 - - - - Germline yes - - - - Johan Van Hove
?/., +/. 7 3 c.317T>C r.(?) p.(Ile106Thr) - VUS, pathogenic g.49458947A>G g.49421514A>G AMT(NM_000481.3):c.317T>C (p.I106T) - AMT_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Utrecht, Johan Van Hove, VKGL-NL_Nijmegen
+/. 2 3i c.340-1G>A r.spl p.(Gly114_GlyLeun157del), p.? - pathogenic g.49457776C>T g.49420343C>T IVS3-1G>A - AMT_000069 - - - - Germline yes - - - - Johan Van Hove
+/. 4 4 c.350C>T r.(?) p.(Ser117Leu) - pathogenic g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - - - Johan Van Hove
-?/. 2 - c.354G>A r.(?) p.(Leu118=) - likely benign g.49457761C>T g.49420328C>T AMT(NM_000481.3):c.354G>A (p.L118=, p.=) - AMT_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 4 c.395_400del r.(?) p.(Val132_Asn134delinsAsp) - pathogenic g.49457715_49457720del g.49420282_49420287del 395_400del6 - AMT_000067 - - - - Germline yes - - - - Johan Van Hove
+/., +/+ 3 4 c.434A>T r.(?), r.(434a>u) p.(Asn145Ile) - pathogenic g.49457681T>A g.49420248T>A - - AMT_000014 2 Caucasian/Native American sibs (com-het) with GCE PubMed: Toone et al. 2001 - - Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/. 2 4 c.451_466del r.(?) p.(Lys151Cysfs*25) - pathogenic g.49457649_49457664del g.49420216_49420231del 451_466del16 - AMT_000065 - - - - Germline yes - - - - Johan Van Hove
+/+, +/. 7 4 c.452_466del r.(452_466del), r.(?) p.(Lys151_Leu155del) - pathogenic g.49457650_49457664del g.49420217_49420231del 452_466del15 - AMT_000015 1 Caucasian GCE family (P61; com-het) PubMed: Kure et al. 2006 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 2 4 c.453_466del r.(?) p.(Lys151Asnfs*22) - pathogenic g.49457650_49457663del g.49420217_49420230del 452_465del14 - AMT_000066 - - - - Germline yes - - - - Johan Van Hove
-?/. 1 - c.463C>T r.(?) p.(Leu155Phe) - likely benign g.49457652G>A g.49420219G>A AMT(NM_000481.3):c.463C>T (p.L155F) - AMT_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 6 4i c.471+2T>C r.spl? p.? - pathogenic g.49457642A>G g.49420209A>G IVS4+2T>C - AMT_000016 1 Caucasian GCE family (P31; com-het) PubMed: Kure et al. 2006 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
-/. 1 - c.471+12_471+13del r.(=) p.(=) - benign g.49457633_49457634del g.49420200_49420201del AMT(NM_000481.3):c.471+12_471+13delCT - AMT_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 3 5 c.496C>T r.(?) p.(Gln166*) - pathogenic g.49457197G>A g.49419764G>A - - AMT_000064 - - - - Germline yes - - - - Johan Van Hove
+/. 1 5 c.515T>C r.(?) p.(Leu172Pro) - pathogenic g.49457178A>G g.49419745A>G - - AMT_000063 - - - - Germline yes - - - - Johan Van Hove
+/. 2 5 c.534_535dup r.(?) p.(Leu179Profs*3) - pathogenic g.49457159_49457160dup g.49419726_49419727dup 534_535insCC - AMT_000062 - - - - Germline yes - - - - Johan Van Hove
+/+ 1 5 c.535del r.(?) p.(Leu179Cysfs*2) - pathogenic g.49457160del g.49419727del - - AMT_000017 1 Oriental GCE family (P91; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/. 2 5 c.545T>C r.(?) p.(Leu182Pro) - pathogenic g.49457148A>G g.49419715A>G - - AMT_000061 - - - - Germline yes - - - - Johan Van Hove
+/. 1 5 c.548A>G r.(?) p.(Gln183Arg) - pathogenic g.49457145T>C g.49419712T>C - - AMT_000060 - - - - Germline yes - - - - Johan Van Hove
+/. 2 6 c.551_552delinsAA r.(?) p.(Gly184Glu) - pathogenic g.49456837_49456838delinsTT g.49419404_49419405delinsTT - - AMT_000059 - - - - Germline yes - - - - Johan Van Hove
+/+, +/. 2 6 c.574C>T r.(574c>u), r.(?) p.(Gln192*) - pathogenic g.49456815G>A g.49419382G>A - - AMT_000018 1 GCE patient (het) PubMed: Toone et al. 2000 - rs121964986 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
?/. 1 - c.593A>T r.(?) p.(Asp198Val) - VUS g.49456796T>A g.49419363T>A AMT(NM_000481.3):c.593A>T (p.(Asp198Val)) - AMT_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 4 - c.631G>A r.(?) p.(Glu211Lys) - benign, likely benign g.49456758C>T g.49419325C>T AMT(NM_000481.3):c.631G>A (p.(Glu211Lys), p.E211K) - AMT_000092 VKGL data sharing initiative Nederland, 73 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs116192290 CLASSIFICATION record, Germline - 73/2795 individuals - - - VKGL-NL_Groningen, VKGL-NL_Leiden, Mohammed Faruq, VKGL-NL_Utrecht
?/., +?/+?, +/., -?/. 5 6 c.635T>C r.(?), r.(635u>c) p.(Val212Ala) - VUS, likely pathogenic, pathogenic, likely benign g.49456754A>G g.49419321A>G AMT(NM_000481.3):c.635T>C (p.V212A) - AMT_000019 VKGL data sharing initiative Nederland, 1 GCE patient PubMed: Toone et al. 2003 - rs201141125 CLASSIFICATION record, SUMMARY record, Germline yes - - - - VKGL-NL_Rotterdam, Anne Polvi, Johan Van Hove, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.645_646del r.(?) p.(Ser216TrpfsTer60) - likely pathogenic g.49456745_49456746del g.49419312_49419313del AMT(NM_000481.3):c.645_646del (p.(Ser216TrpfsTer60)) - AMT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 12 6 c.664C>T r.(?) p.(Arg222Cys) - pathogenic g.49456725G>A g.49419292G>A - - AMT_000058 - - - - Germline yes - - - - Johan Van Hove
+?/., +/. 4 6 c.665G>A r.(?) p.(Arg222His) - likely pathogenic, pathogenic g.49456724C>T g.49419291C>T - - AMT_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Johan Van Hove
+/. 1 6 c.665G>C r.(?) p.(Arg222Pro) - pathogenic g.49456724C>G g.49419291C>G - - AMT_000057 - - - - Germline yes - - - - Johan Van Hove
+/+, +/. 2 6 c.674A>G r.(674a>g), r.(?) p.(Tyr225Cys) - pathogenic g.49456715T>C g.49419282T>C - - AMT_000020 1 GCE patient PubMed: Toone et al. 2003 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
-?/. 1 - c.681A>G r.(?) p.(Gly227=) - likely benign g.49456708T>C g.49419275T>C AMT(NM_000481.3):c.681A>G (p.G227=) - AMT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.685G>C r.(?) p.(Asp229His) - pathogenic g.49456704C>G g.49419271C>G - - AMT_000055 - - - - Germline yes - - - - Johan Van Hove
+/. 1 6_6i c.695_696+33delinsGGCTGTACAGA r.spl? p.(Asp229Glyfs*10) - pathogenic g.49456660_49456694delinsTCTGTACAGCC g.49419227_49419261delinsTCTGTACAGCC 695_696+33del35insGGCTGTACAGA - AMT_000053 - - - - Germline yes - - - - Johan Van Hove
+/. 1 6i c.696+5G>C r.spl? p.? - pathogenic g.49456688C>G g.49419255C>G IVS6+5G>C - AMT_000054 - - - - Germline yes - - - - Johan Van Hove
-?/. 1 - c.697-3C>T r.spl? p.? - likely benign g.49456587G>A g.49419154G>A AMT(NM_000481.3):c.697-3C>T - AMT_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.731dup r.(?) p.(Thr245Asnfs*32) - pathogenic g.49456550dup g.49419117dup - - AMT_000052 - - - - Germline yes - - - - Johan Van Hove
+/. 3 7 c.793C>A r.(?) p.(Arg265Ser) - pathogenic g.49456488G>T g.49419055G>T - - AMT_000050 - - - - Germline yes - - - - Johan Van Hove
+/. 4 7 c.793C>T r.(?) p.(Arg265Cys) - pathogenic g.49456488G>A g.49419055G>A - - AMT_000051 - - - - Germline yes - - - - Johan Van Hove
+/. 6 7 c.794G>A r.(?) p.(Arg265His) - pathogenic g.49456487C>T g.49419054C>T AMT(NM_000481.3):c.794G>A (p.R265H) - AMT_000049 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record yes - - - - Johan Van Hove, VKGL-NL_Utrecht
+/+, +/. 2 7 c.806G>A r.(806g>a), r.(?) p.(Gly269Asp) - pathogenic g.49456475C>T g.49419042C>T - - AMT_000007 1 GCE family (hom) PubMed: Nanao et al. 1994 - rs121964981 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 1 7 c.808_811inv r.(?) p.(Leu270_Cys271delinsArgGly) - pathogenic g.49456470_49456473inv g.49419037_49419040inv 808_811del4insAGAG - AMT_000048 - - - - Germline yes - - - - Johan Van Hove
-?/. 1 - c.822G>C r.(?) p.(Gly274=) - likely benign g.49456459C>G g.49419026C>G AMT(NM_000481.3):c.822G>C (p.G274=) - AMT_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.825T>A r.(?) p.(Asn275Lys) - VUS g.49456456A>T g.49419023A>T AMT(NM_000481.3):c.825T>A (p.N275K) - AMT_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 5 7 c.826G>C r.(826g>c), r.(?) p.(Asp276His) - pathogenic g.49456455C>G g.49419022C>G - - AMT_000021 1 GCE family PubMed: Kure et al.1998, PubMed: Kure et al. 2006 - rs121964984 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 1 7 c.845C>T r.(?) p.(Thr282Ile) - pathogenic g.49456436G>A g.49419003G>A - - AMT_000047 - - - - Germline yes - - - - Johan Van Hove
+/. 1 7i c.877+5G>A r.spl? p.? - pathogenic g.49456399C>T g.49418966C>T IVS7+5G>A - AMT_000046 - - - - Germline yes - - - - Johan Van Hove
+/., +/+ 2 7i c.878-1G>A r.spl? p.(Lys294fs), p.? - pathogenic g.49455407C>T g.49417974C>T IVS7-1G>A - AMT_000022 5 GCE patients PubMed: Toone et al. 2001, PubMed: Toone et al. 2001 - rs181134220 Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/. 3 8 c.879G>A r.(=) p.(=) - pathogenic g.49455405C>T g.49417972C>T IVS7-1G>A - AMT_000045 - - - - Germline yes - - - - Johan Van Hove
+/. 4 8 c.886C>T r.(?) p.(Arg296Cys) - pathogenic g.49455398G>A g.49417965G>A - - AMT_000044 - - - - Germline yes - - - - Johan Van Hove
+/., +/+ 8 8 c.887G>A r.(?), r.(887g>a) p.(Arg296His) - pathogenic g.49455397C>T g.49417964C>T - - AMT_000023 1 GCE patient PubMed: Toone et al. 2003 - - Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/. 1 8 c.887G>C r.(?) p.(Arg296Pro) - pathogenic g.49455397C>G g.49417964C>G - - AMT_000043 - - - - Germline yes - - - - Johan Van Hove
+/. 2 - c.889C>T r.(?) p.(Arg297Ter) - pathogenic g.49455395G>A g.49417962G>A AMT(NM_000481.3):c.889C>T (p.R297*) - AMT_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-?/. 1 - c.891A>G r.(?) p.(Arg297=) - likely benign g.49455393T>C g.49417960T>C AMT(NM_000481.3):c.891A>G (p.R297=) - AMT_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 8 c.921G>A r.(?) p.(Val307=) - pathogenic g.49455363C>T g.49417930C>T - - AMT_000042 1 more item - - - Germline yes - - - - Johan Van Hove
?/. 1 - c.923T>C r.(?) p.(Ile308Thr) - VUS g.49455361A>G g.49417928A>G AMT(NM_000481.3):c.923T>C (p.(Ile308Thr)) - AMT_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.953G>A r.(?) p.(Arg318Gln) - likely benign g.49455331C>T g.49417898C>T AMT(NM_000481.3):c.953G>A (p.R318Q) - AMT_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.954G>A r.(?) p.(Arg318=) - benign g.49455330C>T g.49417897C>T AMT(NM_000481.3):c.954G>A (p.R318=) - AMT_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 2 8 c.958C>G r.(?) p.(Arg320Gly) - pathogenic g.49455326G>C g.49417893G>C - - AMT_000040 - - - - Germline yes - - - - Johan Van Hove
+/. 2 8 c.958C>T r.(?) p.(Arg320Cys) - pathogenic g.49455326G>A g.49417893G>A - - AMT_000041 - - - - Germline yes - - - - Johan Van Hove
+/., +/+ 40 8 c.959G>A r.(?), r.(959g>a) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T AMT(NM_000481.3):c.959G>A (p.(Arg320His), p.R320H) - AMT_000024 9 GCE patients, VKGL data sharing initiative Nederland PubMed: Nanao et al. 1994, PubMed: Toone et al. 2000, PubMed: Toone et al. 2001 - rs121964985 Germline, SUMMARY record, CLASSIFICATION record yes - - - - Johan Van Hove, Anne Polvi, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Leiden
+/+ 1 8 c.970_972del r.(?) p.(Met324del) - pathogenic g.49455314_49455316del g.49417881_49417883del c.970_972delATG: 320Met Deletion - AMT_000025 1 Oriental GCE family (P115; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 8 c.982_983delinsT r.(982_983delgcinsu) p.(Ala328Serfs*10) - pathogenic g.49455301_49455302delinsA g.49417868_49417869delinsA c.982_972GC>T - AMT_000026 1 Caucasian GCE family (P61; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/. 3 8 c.987del r.(?) p.(Met330Cysfs*8) - pathogenic g.49455301del g.49417868del - - AMT_000039 - - - - Germline yes - - - - Johan Van Hove
+/. 4 8 c.992G>A r.(?) p.(Arg331Gln) - pathogenic g.49455292C>T g.49417859C>T - - AMT_000038 - - - - Germline yes - - - - Johan Van Hove
+/. 1 8 c.992G>C r.(?) p.(Arg331Pro) - pathogenic g.49455292C>G g.49417859C>G - - AMT_000037 - - - - Germline yes - - - - Johan Van Hove
+/. 1 8 c.996dup r.(?) p.(His333Thrfs*17) - pathogenic g.49455288dup g.49417855dup 996insA - AMT_000081 - - - - Germline yes - - - - Johan Van Hove
+/. 1 8 c.998dup r.(?) p.(His333Glnfs*17) - pathogenic g.49455286dup g.49417853dup - - AMT_000080 - - - - Germline yes - - - - Johan Van Hove
+/. 2 8 c.999_1000del r.(?) p.(His333Glnfs*16) - pathogenic g.49455288_49455289del g.49417855_49417856del 999-1000delCA - AMT_000079 - - - - Germline yes - - - - Johan Van Hove
+/. 2 8i c.1034+1G>C r.spl p.? - pathogenic g.49455150C>G g.49417717C>G IVS8+1G>C - AMT_000078 1 more item - - - Germline yes - - - - Johan Van Hove
+/. 2 8i c.1034+2T>C r.spl? p.? - pathogenic g.49455149A>G g.49417716A>G IVS8+2insT, IVS8+2T>C - AMT_000077 1 more item - - - Germline yes - - - - Johan Van Hove
+/. 1 9 c.1040_1041del r.(?) p.(Val347Aspfs*2) - pathogenic g.49455146_49455147del g.49417713_49417714del 1040_1041delTG - AMT_000076 - - - - Germline yes - - - - Johan Van Hove
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