All variants in the MTMR1 gene

Information The variants shown are described using the NM_003828.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.253-4137G>A r.(=) p.(=) - likely benign g.149882960G>A g.150714488G>A MTMR1(NM_001353990.1):c.262G>A (p.E88K) - MTMR1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.328+158C>T r.(=) p.(=) - VUS g.149887330C>T g.150718858C>T - - MTMR1_000017 - - - - Germline - - - - - Yu Sun
?/. - c.328+158C>T r.(=) p.(=) - VUS g.149887330C>T g.150718858C>T - - MTMR1_000017 - - - - Germline - - - - - Yu Sun
?/. - c.643G>T r.(?) p.(Ala215Ser) - VUS g.149899006G>T g.150730534G>T MTMR1(NM_001353990.1):c.694G>T (p.A232S) - MTMR1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.817G>T r.(?) p.(Asp273Tyr) - VUS g.149900041G>T g.150731569G>T MTMR1(NM_001306144.3):c.841G>T (p.D281Y) - MTMR1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1057-4G>A r.spl? p.? - likely benign g.149905063G>A g.150736591G>A MTMR1(NM_003828.2):c.1057-4G>A (p.?) - MTMR1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1167G>C r.(?) p.(Glu389Asp) - VUS g.149905177G>C g.150736705G>C MTMR1(NM_003828.2):c.1167G>C (p.(Glu389Asp)) - MTMR1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1902C>T r.(?) p.(=) - VUS g.149931106C>T g.150762633C>T - - MTMR1_000005 - - - - Germline - - - - - Yu Sun
?/. - c.1902C>T r.(?) p.(=) - VUS g.149931106C>T g.150762633C>T - - MTMR1_000005 - - - - Germline - - - - - Yu Sun
-?/. - c.1902C>T r.(=) p.(=) - likely benign g.149931106C>T g.150762633C>T G634G - MTMR1_000005 recurrent, found 109 times PubMed: Tarpey 2009 - - Germline - 109/208 cases - 0 - Lucy Raymond
-?/. - c.1930G>A r.(?) p.(Val644Ile) - likely benign g.149931134G>A g.150762661G>A MTMR1(NM_003828.2):c.1930G>A (p.(Val644Ile)) - MTMR1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1949G>A r.(?) p.(Arg650Gln) - VUS g.149931153G>A g.150762680G>A MTMR1(NM_001306144.3):c.1973G>A (p.R658Q) - MTMR1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1954T>C r.(?) p.(Ser652Pro) - likely benign g.149931158T>C - MTMR1(NM_001353990.1):c.2005T>C (p.S669P) - MTMR1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1960C>T r.(?) p.(Pro654Ser) - likely benign g.149931164C>T - MTMR1(NM_001353990.1):c.2011C>T (p.P671S) - MTMR1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1981G>A r.(?) p.(Val661Ile) - likely benign g.149931185G>A g.150762712G>A MTMR1(NM_003828.2):c.1981G>A (p.(Val661Ile)) - MTMR1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*9-464C>G r.(=) p.(=) - VUS g.149932521C>G g.150764048C>G - - MTMR1_000008 - - - - Germline - - - - - Yu Sun
?/. - c.*9-464C>G r.(=) p.(=) - VUS g.149932521C>G g.150764048C>G - - MTMR1_000008 - - - - Germline - - - - - Yu Sun
?/. - c.*9-282G>A r.(=) p.(=) - VUS g.149932703G>A g.150764230G>A - - MTMR1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*9-282G>A r.(=) p.(=) - VUS g.149932703G>A g.150764230G>A - - MTMR1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*144del r.(=) p.(=) - VUS g.149933120del g.150764647del - - MTMR1_000019 - - - - Germline - - - - - Yu Sun
?/. - c.*144del r.(=) p.(=) - VUS g.149933120del g.150764647del - - MTMR1_000019 - - - - Germline - - - - - Yu Sun
?/. - c.*152del r.(=) p.(=) - VUS g.149933128del g.150764655del - - MTMR1_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*152del r.(=) p.(=) - VUS g.149933128del g.150764655del - - MTMR1_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*365T>C r.(=) p.(=) - VUS g.149933341T>C g.150764868T>C - - MTMR1_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*365T>C r.(=) p.(=) - VUS g.149933341T>C g.150764868T>C - - MTMR1_000004 - - - - Germline - - - - - Yu Sun
-?/. - c.*4562G>A r.(=) p.(=) - likely benign g.149937538G>A g.150769065G>A CD99L2(NM_001184808.1):c.539C>T (p.(Pro180Leu)) - CD99L2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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