Unique variants in gene MTR

Information The variants shown are described using the NM_000254.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.-6G>C r.(?) p.(=) - likely benign g.236958998G>C g.236795698G>C MTR(NM_000254.2):c.-6G>C - MTR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.13C>A r.(?) p.(Leu5Ile) - VUS g.236959016C>A g.236795716C>A MTR(NM_000254.2):c.13C>A (p.L5I) - MTR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ./. 2 - c.155G>A r.(?) p.(Arg52Gln) - likely benign, pathogenic g.236966848G>A g.236803548G>A MTR(NM_000254.2):c.155G>A (p.R52Q) - MTR_000001 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Johan den Dunnen
-/. 1 - c.340-6C>T r.(=) p.(=) - benign g.236971998C>T g.236808698C>T MTR(NM_000254.2):c.340-6C>T - MTR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.340-2A>G r.spl? p.? - VUS g.236972002A>G g.236808702A>G MTR(NM_000254.2):c.340-2A>G - MTR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.502+10dup r.(=) p.(=) - benign g.236973905dup g.236810605dup MTR(NM_000254.2):c.502+10dupT - MTR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.621T>G r.(?) p.(Phe207Leu) - VUS g.236978915T>G g.236815615T>G MTR(NM_000254.2):c.621T>G (p.F207L) - MTR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.651T>C r.(?) p.(Tyr217=) - benign g.236978945T>C g.236815645T>C MTR(NM_000254.2):c.651T>C (p.Y217=) - MTR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.858C>T r.(?) p.(Pro286=) - benign, likely benign g.236987512C>T g.236824212C>T MTR(NM_000254.2):c.858C>T (p.P286=) - MTR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.927+10C>A r.(=) p.(=) - likely benign g.236988709C>A g.236825409C>A MTR(NM_000254.2):c.927+10C>A - MTR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.940G>A r.(?) p.(Asp314Asn) - benign, likely benign g.236990141G>A g.236826841G>A MTR(NM_000254.2):c.940G>A (p.D314N) - MTR_000006 VKGL data sharing initiative Nederland, 1 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs2229274 CLASSIFICATION record, Germline - 1/2795 individuals, 21/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
-/. 2 - c.1033G>A r.(?) p.(Val345Ile) - benign g.236992526G>A g.236829226G>A MTR(NM_000254.2):c.1033G>A (p.V345I) - MTR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1076-8C>T r.(=) p.(=) - likely benign g.236995258C>T g.236831958C>T MTR(NM_000254.2):c.1076-8C>T (p.(=)) - MTR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1228G>C r.(?) p.(Ala410Pro) - VUS g.236998886G>C g.236835586G>C MTR(NM_000254.2):c.1228G>C (p.(Ala410Pro)) - MTR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1288A>G r.(?) p.(Arg430Gly) - VUS g.236998946A>G g.236835646A>G MTR(NM_000254.2):c.1288A>G (p.(Arg430Gly)) - MTR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1310C>A r.(?) p.(Ser437Tyr) - likely pathogenic g.236998968C>A g.236835668C>A MTR(NM_000254.2):c.1310C>A (p.S437Y) - MTR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1485G>A r.(?) p.(Met495Ile) - benign g.237001869G>A g.236838569G>A MTR(NM_000254.2):c.1485G>A (p.M495I) - MTR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1753C>T r.(?) p.(Arg585Ter) - pathogenic g.237015878C>T g.236852578C>T MTR(NM_000254.2):c.1753C>T (p.R585*) - MTR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2044-21_2044-12dup r.(=) p.(=) - likely benign g.237024404_237024413dup g.236861104_236861113dup MTR(NM_000254.2):c.2044-20_2044-11dupTTTTTTTTTT - MTR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2044-11G>T r.(=) p.(=) - likely benign g.237024414G>T g.236861114G>T MTR(NM_000254.2):c.2044-11G>T - MTR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2044-9C>G r.(=) p.(=) - likely benign g.237024416C>G g.236861116C>G MTR(NM_000254.2):c.2044-9C>G - MTR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2044-9C>T r.(=) p.(=) - likely benign g.237024416C>T g.236861116C>T MTR(NM_000254.2):c.2044-9C>T - MTR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2044-2A>T r.spl? p.? - benign g.237024423A>T g.236861123A>T MTR(NM_000254.2):c.2044-2A>T - MTR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2044-2_2047del r.spl? p.? - likely benign g.237024423_237024428del g.236861123_236861128del MTR(NM_000254.2):c.2044-2_2047del (p.?) - MTR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2046C>G r.(?) p.(Gly682=) - VUS g.237024427C>G g.236861127C>G MTR(NM_000254.2):c.2046C>G (p.(=)) - MTR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2047A>T r.(?) p.(Ile683Phe) - VUS g.237024428A>T g.236861128A>T MTR(NM_000254.2):c.2047A>T (p.(Ile683Phe)) - MTR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2122del r.(?) p.(Ile708LeufsTer5) - pathogenic g.237024503del g.236861203del MTR(NM_000254.2):c.2122delA (p.I708Lfs*5) - MTR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2245C>T r.(?) p.(Pro749Ser) - VUS g.237025584C>T g.236862284C>T MTR(NM_000254.2):c.2245C>T (p.P749S) - MTR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2474-19T>A r.(=) p.(=) - benign g.237038007T>A g.236874707T>A MTR(NM_000254.2):c.2474-19T>A - MTR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2474-18T>A r.(=) p.(=) - benign g.237038008T>A g.236874708T>A MTR(NM_000254.2):c.2474-18T>A - MTR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2474-18_2474-17del r.(=) p.(=) - benign g.237038008_237038009del g.236874708_236874709del MTR(NM_000254.2):c.2474-18_2474-17delTA - MTR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2474-5_2474-4dup r.spl? p.? - benign g.237038021_237038022dup g.236874721_236874722dup MTR(NM_000254.2):c.2474-4_2474-3dupAA - MTR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2474-4del r.spl? p.? - likely benign g.237038022del g.236874722del MTR(NM_000254.2):c.2474-4delA - MTR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2474-4dup r.spl? p.? - benign g.237038022dup g.236874722dup MTR(NM_000254.2):c.2474-4dupA - MTR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.2594+15T>C r.(=) p.(=) - benign g.237038161T>C g.236874861T>C MTR(NM_000254.2):c.2594+15T>C - MTR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.2718T>G r.(?) p.(Phe906Leu) - VUS g.237048462T>G g.236885162T>G MTR(NM_000254.2):c.2718T>G (p.(Phe906Leu)) - MTR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2756A>G r.(?) p.(Asp919Gly) - benign g.237048500A>G g.236885200A>G MTR(NM_000254.2):c.2756A>G (p.D919G) - MTR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2826G>A r.(?) p.(Met942Ile) - VUS g.237049642G>A g.236886342G>A MTR(NM_000254.2):c.2826G>A (p.(Met942Ile)) - MTR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2909T>C r.(?) p.(Val970Ala) - likely benign g.237052538T>C g.236889238T>C MTR(NM_000254.2):c.2909T>C (p.(Val970Ala)) - MTR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3035A>T r.(?) p.(Asp1012Val) - VUS g.237054460A>T g.236891160A>T MTR(NM_000254.2):c.3035A>T (p.D1012V) - MTR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.3079C>T r.(?) p.(Arg1027Trp) - VUS g.237054504C>T g.236891204C>T MTR(NM_000254.2):c.3079C>T (p.R1027W) - MTR_000065 VKGL data sharing initiative Nederland, 12 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs116836001 CLASSIFICATION record, Germline - 12/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-/. 2 - c.3144A>G r.(?) p.(Ala1048=) - benign g.237054569A>G g.236891269A>G MTR(NM_000254.2):c.3144A>G (p.A1048=) - MTR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.3213G>A r.(?) p.(Lys1071=) - benign g.237057665G>A g.236894365G>A MTR(NM_000254.2):c.3213G>A (p.K1071=) - MTR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3463A>G r.(?) p.(Ser1155Gly) - VUS g.237058715A>G g.236895415A>G MTR(NM_000254.2):c.3463A>G (p.S1155G) - MTR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.3474G>A r.(?) p.(Leu1158=) - benign, likely benign g.237058726G>A g.236895426G>A MTR(NM_000254.2):c.3474G>A (p.L1158=) - MTR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.3477C>T r.(=) p.(=) - likely benign g.237058729C>T g.236895429C>T - - MTR_000066 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs117061132 Germline - 10/2795 individuals - - - Mohammed Faruq
-/. 1 - c.3491G>A r.(?) p.(Arg1164His) - benign g.237058743G>A g.236895443G>A MTR(NM_000254.2):c.3491G>A (p.R1164H) - MTR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.3492C>A r.(?) p.(Arg1164=) - benign g.237058744C>A g.236895444C>A MTR(NM_000254.2):c.3492C>A (p.R1164=) - MTR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
+?/. 1 - c.3518C>T r.(?) p.(Pro1173Leu) - likely pathogenic g.237058770C>T g.236895470C>T - - MTR_000067 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs121913578 Germline - 1/2792 individuals - - - Mohammed Faruq
-/. 2 - c.3576C>T r.(?) p.(Leu1192=) - benign g.237058828C>T g.236895528C>T MTR(NM_000254.2):c.3576C>T (p.L1192=) - MTR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.3599-18C>T r.(=) p.(=) - benign g.237060288C>T g.236896988C>T MTR(NM_000254.2):c.3599-18C>T - MTR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.3599-11G>A r.(=) p.(=) - benign g.237060295G>A g.236896995G>A MTR(NM_000254.2):c.3599-11G>A - MTR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.3665A>G r.(?) p.(Asn1222Ser) - benign g.237060372A>G g.236897072A>G MTR(NM_000254.2):c.3665A>G (p.N1222S) - MTR_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.3711+15G>T r.(=) p.(=) - benign g.237060433G>T g.236897133G>T MTR(NM_000254.2):c.3711+15G>T - MTR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.3712-8T>C r.(=) p.(=) - benign g.237060850T>C g.236897550T>C MTR(NM_000254.2):c.3712-8T>C - MTR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*15_*16del r.(=) p.(=) - likely benign g.237060959_237060960del g.236897659_236897660del MTR(NM_000254.2):c.*15_*16delTT - MTR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., -/. 2 - c.*16del r.(?) p.(=) - likely benign, benign g.237060960del g.236897660del MTR(NM_000254.2):c.*16delT - MTR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.*16dup r.(?) p.(=) - benign g.237060960dup g.236897660dup MTR(NM_000254.2):c.*16dupT - MTR_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.*3174C>T r.(=) p.(=) - likely benign g.237064118C>T g.236900818C>T - - MTR_000068 1 homozygous; Clinindb (India), 50 heterozygous; Clinindb (India) Faruq 2020, submtted - rs41305961 Germline - 1/2795 individuals, 50/2795 individuals - - - Mohammed Faruq
?/. 1 - c.*4866T>G r.(=) p.(=) - VUS g.237065810T>G g.236902510T>G - - MTR_000069 31 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs45563435 Germline - 31/2794 individuals - - - Mohammed Faruq
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