All transcript variants in gene MTR

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

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-6G>C likely benign r.(?) p.(=) g.236958998G>C - MTR(NM_000254.2):c.-6G>C - MTR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.13C>A VUS r.(?) p.(Leu5Ile) g.236959016C>A - MTR(NM_000254.2):c.13C>A (p.L5I) - MTR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.155G>A - r.(?) p.(Arg52Gln) g.236966848G>A g.236803548G>A - - MTR_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.155G>A likely benign r.(?) p.(Arg52Gln) g.236966848G>A - MTR(NM_000254.2):c.155G>A (p.R52Q) - MTR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.155G>A likely benign r.(?) p.(Arg52Gln) g.236966848G>A - MTR(NM_000254.2):c.155G>A (p.R52Q) - MTR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.317C>T VUS r.(?) p.(Ala106Val) g.236969511C>T - MTR(NM_000254.2):c.317C>T (p.(Ala106Val)) - MTR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.340-6C>T benign r.(=) p.(=) g.236971998C>T - MTR(NM_000254.2):c.340-6C>T (p.(=)) - MTR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.340-6C>T likely benign r.(=) p.(=) g.236971998C>T - MTR(NM_000254.2):c.340-6C>T (p.(=)) - MTR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.340-2A>G VUS r.spl? p.? g.236972002A>G - MTR(NM_000254.2):c.340-2A>G - MTR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.502+10dup benign r.(=) p.(=) g.236973905dup - MTR(NM_000254.2):c.502+7_502+8insT - MTR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.621T>G VUS r.(?) p.(Phe207Leu) g.236978915T>G - MTR(NM_000254.2):c.621T>G (p.F207L) - MTR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.651T>C benign r.(?) p.(=) g.236978945T>C - MTR(NM_000254.2):c.651T>C (p.=) - MTR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.858C>T benign r.(?) p.(=) g.236987512C>T - MTR(NM_000254.2):c.858C>T (p.=) - MTR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.858C>T likely benign r.(?) p.(=) g.236987512C>T - MTR(NM_000254.2):c.858C>T (p.=) - MTR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.927+10C>A likely benign r.(=) p.(=) g.236988709C>A - MTR(NM_000254.2):c.927+10C>A - MTR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.940G>A benign r.(?) p.(Asp314Asn) g.236990141G>A - MTR(NM_000254.2):c.940G>A (p.D314N) - MTR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.940G>A likely benign r.(?) p.(Asp314Asn) g.236990141G>A - MTR(NM_000254.2):c.940G>A (p.D314N) - MTR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1033G>A benign r.(?) p.(Val345Ile) g.236992526G>A - MTR(NM_000254.2):c.1033G>A (p.V345I) - MTR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1033G>A benign r.(?) p.(Val345Ile) g.236992526G>A - MTR(NM_000254.2):c.1033G>A (p.V345I) - MTR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1076-8C>T likely benign r.(=) p.(=) g.236995258C>T - MTR(NM_000254.2):c.1076-8C>T (p.(=)) - MTR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1228G>C VUS r.(?) p.(Ala410Pro) g.236998886G>C - MTR(NM_000254.2):c.1228G>C (p.(Ala410Pro)) - MTR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1288A>G VUS r.(?) p.(Arg430Gly) g.236998946A>G - MTR(NM_000254.2):c.1288A>G (p.(Arg430Gly)) - MTR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.1310C>A likely pathogenic r.(?) p.(Ser437Tyr) g.236998968C>A - MTR(NM_000254.2):c.1310C>A (p.S437Y) - MTR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1485G>A benign r.(?) p.(Met495Ile) g.237001869G>A - MTR(NM_000254.2):c.1485G>A (p.M495I) - MTR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1753C>T pathogenic r.(?) p.(Arg585*) g.237015878C>T - MTR(NM_000254.2):c.1753C>T (p.R585*) - MTR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1780A>G likely benign r.(?) p.(Met594Val) g.237015905A>G - MTR(NM_000254.2):c.1780A>G (p.(Met594Val)) - MTR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2044-21_2044-12dup likely benign r.(=) p.(=) g.237024404_237024413dup - MTR(NM_000254.2):c.2044-28_2044-27insTTTTTTTTTT - MTR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2044-11G>T likely benign r.(=) p.(=) g.237024414G>T - MTR(NM_000254.2):c.2044-11G>T - MTR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2044-9C>G likely benign r.(=) p.(=) g.237024416C>G - MTR(NM_000254.2):c.2044-9C>G - MTR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2044-9C>T likely benign r.(=) p.(=) g.237024416C>T - MTR(NM_000254.2):c.2044-9C>T - MTR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2044-2A>T benign r.spl? p.? g.237024423A>T - MTR(NM_000254.2):c.2044-2A>T - MTR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2044-2_2047del likely benign r.spl? p.? g.237024423_237024428del - MTR(NM_000254.2):c.2044-2_2047del (p.?) - MTR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2044-1G>T likely benign r.spl? p.? g.237024424G>T - MTR(NM_000254.2):c.2044-1G>T (p.?) - MTR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2044-1_2047del likely benign r.spl? p.? g.237024424_237024428del - MTR(NM_000254.2):c.2044-2_2046del (p.?) - MTR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2046C>G VUS r.(?) p.(=) g.237024427C>G - MTR(NM_000254.2):c.2046C>G (p.(=)) - MTR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2047A>T VUS r.(?) p.(Ile683Phe) g.237024428A>T - MTR(NM_000254.2):c.2047A>T (p.(Ile683Phe)) - MTR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.2122del pathogenic r.(?) p.(Ile708Leufs*5) g.237024503del - MTR(NM_000254.2):c.2122delA (p.I708Lfs*5) - MTR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2245C>T VUS r.(?) p.(Pro749Ser) g.237025584C>T - MTR(NM_000254.2):c.2245C>T (p.P749S) - MTR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2474-19T>A benign r.(=) p.(=) g.237038007T>A - MTR(NM_000254.2):c.2474-19T>A - MTR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2474-18T>A benign r.(=) p.(=) g.237038008T>A - MTR(NM_000254.2):c.2474-18T>A - MTR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2474-18_2474-17del benign r.(=) p.(=) g.237038008_237038009del - MTR(NM_000254.2):c.2474-18_2474-17delTA - MTR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2474-5_2474-4dup benign r.spl? p.? g.237038021_237038022dup - MTR(NM_000254.2):c.2474-18_2474-17insAA - MTR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2474-4del likely benign r.spl? p.? g.237038022del - MTR(NM_000254.2):c.2474-17delA - MTR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2474-4dup benign r.spl? p.? g.237038022dup - MTR(NM_000254.2):c.2474-18_2474-17insA - MTR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2594+15T>C benign r.(=) p.(=) g.237038161T>C - MTR(NM_000254.2):c.2594+15T>C - MTR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.2594+15T>C benign r.(=) p.(=) g.237038161T>C - MTR(NM_000254.2):c.2594+15T>C - MTR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.2718T>G VUS r.(?) p.(Phe906Leu) g.237048462T>G - MTR(NM_000254.2):c.2718T>G (p.(Phe906Leu)) - MTR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2756A>G benign r.(?) p.(Asp919Gly) g.237048500A>G - MTR(NM_000254.2):c.2756A>G (p.D919G) - MTR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2826G>A VUS r.(?) p.(Met942Ile) g.237049642G>A - MTR(NM_000254.2):c.2826G>A (p.(Met942Ile)) - MTR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2908G>A likely benign r.(?) p.(Val970Met) g.237052537G>A - MTR(NM_000254.2):c.2908G>A (p.(Val970Met)) - MTR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2909T>C likely benign r.(?) p.(Val970Ala) g.237052538T>C - MTR(NM_000254.2):c.2909T>C (p.(Val970Ala)) - MTR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3035A>T VUS r.(?) p.(Asp1012Val) g.237054460A>T - MTR(NM_000254.2):c.3035A>T (p.D1012V) - MTR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.3144A>G benign r.(?) p.(=) g.237054569A>G - MTR(NM_000254.2):c.3144A>G (p.A1048=) - MTR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.3144A>G benign r.(?) p.(=) g.237054569A>G - MTR(NM_000254.2):c.3144A>G (p.A1048=) - MTR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.3172C>T likely benign r.(?) p.(Pro1058Ser) g.237054597C>T - MTR(NM_000254.2):c.3172C>T (p.(Pro1058Ser)) - MTR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.3213G>A benign r.(?) p.(=) g.237057665G>A - MTR(NM_000254.2):c.3213G>A (p.=) - MTR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3463A>G VUS r.(?) p.(Ser1155Gly) g.237058715A>G - MTR(NM_000254.2):c.3463A>G (p.S1155G) - MTR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.3474G>A benign r.(?) p.(=) g.237058726G>A - MTR(NM_000254.2):c.3474G>A (p.=) - MTR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3474G>A likely benign r.(?) p.(=) g.237058726G>A - MTR(NM_000254.2):c.3474G>A (p.=) - MTR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3491G>A benign r.(?) p.(Arg1164His) g.237058743G>A - MTR(NM_000254.2):c.3491G>A (p.R1164H) - MTR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.3492C>A benign r.(?) p.(=) g.237058744C>A - MTR(NM_000254.2):c.3492C>A (p.R1164=) - MTR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.3492C>A benign r.(?) p.(=) g.237058744C>A - MTR(NM_000254.2):c.3492C>A (p.R1164=) - MTR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.3576C>T benign r.(?) p.(=) g.237058828C>T - MTR(NM_000254.2):c.3576C>T (p.L1192=) - MTR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.3576C>T benign r.(?) p.(=) g.237058828C>T - MTR(NM_000254.2):c.3576C>T (p.L1192=) - MTR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.3599-18C>T benign r.(=) p.(=) g.237060288C>T - MTR(NM_000254.2):c.3599-18C>T - MTR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.3599-11G>A benign r.(=) p.(=) g.237060295G>A - MTR(NM_000254.2):c.3599-11G>A - MTR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.3665A>G benign r.(?) p.(Asn1222Ser) g.237060372A>G - MTR(NM_000254.2):c.3665A>G (p.N1222S) - MTR_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.3711+15G>T benign r.(=) p.(=) g.237060433G>T - MTR(NM_000254.2):c.3711+15G>T - MTR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.3711+15G>T benign r.(=) p.(=) g.237060433G>T - MTR(NM_000254.2):c.3711+15G>T - MTR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.3712-8T>C benign r.(=) p.(=) g.237060850T>C - MTR(NM_000254.2):c.3712-8T>C - MTR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3739A>G likely benign r.(?) p.(Ile1247Val) g.237060885A>G - MTR(NM_000254.2):c.3739A>G (p.(Ile1247Val)) - MTR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*15_*16del likely benign r.(=) p.(=) g.237060959_237060960del - MTR(NM_000254.2):c.*2_*3delTT - MTR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*16del likely benign r.(?) p.(=) g.237060960del - MTR(NM_000254.2):c.*16delT, MTR(NM_000254.2):c.*3delT - MTR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*16del benign r.(?) p.(=) g.237060960del - MTR(NM_000254.2):c.*16delT, MTR(NM_000254.2):c.*3delT - MTR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*16dup benign r.(?) p.(=) g.237060960dup - MTR(NM_000254.2):c.*1_*2insT - MTR_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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