Unique variants in the MSL3 gene

Information The variants shown are described using the NM_078629.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.139A>G r.(?) p.(Arg47Gly) - VUS g.11777948A>G - MSL3(NM_078628.1):c.139A>G (p.R47G) - MSL3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.186-51G>T r.(=) p.(=) - VUS g.11778471G>T g.11760352G>T - - MSL3_000005 - - - - Germline - - - - - Yu Sun
./. 2 - c.281+166_281+167insCTT r.(=) p.(=) - VUS g.11778783_11778784insCTT g.11760664_11760665insCTT - - MSL3_000001 - - - - Germline - - - - - Yu Sun
./. 2 - c.383-81A>G r.(=) p.(=) - VUS g.11779538A>G g.11761419A>G - - MSL3_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.401A>G r.(?) p.(Asp134Gly) - VUS g.11779637A>G g.11761518A>G MSL3(NM_001193270.1):c.365A>G (p.(Asp122Gly)) - MSL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.520A>G r.(?) p.(Ile174Val) - likely benign g.11780303A>G g.11762184A>G MSL3(NM_001193270.1):c.484A>G (p.(Ile162Val)) - MSL3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.623C>T r.(?) p.(Thr208Met) - VUS g.11780990C>T g.11762871C>T MSL3(NM_078628.1):c.623C>T (p.T208M) - MSL3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.750-123T>C r.(=) p.(=) - VUS g.11781776T>C g.11763657T>C - - MSL3_000012 - - - - Germline - - - - - Yu Sun
?/. 1 8 c.768G>A r.(?) p.(=) - VUS g.11781917G>A g.11763798G>A E256E - MSL3_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.810G>A r.(?) p.(Pro270=) - likely benign g.11781959G>A - MSL3(NM_078628.1):c.810G>A (p.P270=) - MSL3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.909-84G>C r.(=) p.(=) - VUS g.11783502G>C g.11765383G>C - - MSL3_000015 - - - - Germline - - - - - Yu Sun
?/. 1 - c.947A>G r.(?) p.(Asn316Ser) - VUS g.11783624A>G g.11765505A>G MSL3(NM_001193270.1):c.911A>G (p.(Asn304Ser)) - MSL3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1018G>T r.(?) p.(Ala340Ser) - likely benign g.11783695G>T g.11765576G>T MSL3(NM_001193270.1):c.982G>T (p.(Ala328Ser)) - MSL3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1036C>T r.(?) p.(Gln346Ter) - likely pathogenic g.11783713C>T g.11765594C>T - - MSL3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1091G>A r.(?) p.(Ser364Asn) - VUS g.11783768G>A g.11765649G>A MSL3(NM_078628.1):c.1091G>A (p.S364N) - MSL3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 9 c.1094G>A r.(?) p.(Ser365Asn) - likely benign, VUS g.11783771G>A g.11765652G>A MSL3(NM_001193270.1):c.1058G>A (p.(Ser353Asn)), MSL3(NM_001282174.1):c.647G>A (p.S216N), S365N - MSL3_000018 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.1094G>C r.(?) p.(Ser365Thr) - likely benign g.11783771G>C - MSL3(NM_078628.1):c.1094G>C (p.S365T) - MSL3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1099T>C r.(?) p.(Ser367Pro) - likely benign g.11783776T>C g.11765657T>C MSL3(NM_078628.1):c.1099T>C (p.S367P) - MSL3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1136C>T r.(?) p.(Ala379Val) - likely benign g.11783813C>T g.11765694C>T MSL3(NM_078628.1):c.1136C>T (p.A379V) - MSL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1211dup r.(?) p.(Thr405Aspfs*3) ACMG likely pathogenic (dominant) g.11786731dup g.11768612dup - - MSL3_000029 ACMG: Class 4 (PVS1, PM2_SUP) - - - Germline/De novo (untested) ? - - - - Andreas Laner
./. 2 - c.1281+38T>C r.(=) p.(=) - VUS g.11786839T>C g.11768720T>C - - MSL3_000002 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1515C>T r.(?) p.(Val505=) - likely benign g.11793147C>T - MSL3(NM_078629.3):c.1515C>T (p.V505=) - MSL3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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