Full data view for gene MYSM1

Information The variants shown are described using the NM_001085487.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

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VIP     

Data_av     

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Panel size     

Owner     
?/. - c.13G>A r.(?) p.(Glu5Lys) Unknown - VUS g.59165712C>T - - - MYSM1_000012 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.57G>T r.(?) p.(Gly19=) Unknown - likely benign g.59165668C>A - MYSM1(NM_001085487.3):c.57G>T (p.G19=) - MYSM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.219-1G>A r.spl? p.? Unknown - VUS g.59156090C>T - MYSM1(NM_001085487.3):c.219-1G>A - MYSM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.219-1G>A r.spl? p.? Unknown - likely pathogenic g.59156090C>T - MYSM1(NM_001085487.3):c.219-1G>A - MYSM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320+7A>G r.(=) p.(=) Unknown - likely benign g.59155891T>C g.58690219T>C MYSM1(NM_001085487.3):c.320+7A>G - MYSM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320+17_320+23del r.(=) p.(=) Unknown - likely benign g.59155883_59155889del - MYSM1(NM_001085487.3):c.320+17_320+23delTATATTT - MYSM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.508G>A r.(?) p.(Gly170Ser) Unknown - likely benign g.59148208C>T - MYSM1(NM_001085487.3):c.508G>A (p.G170S) - MYSM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580A>G r.(?) p.(Lys194Glu) Unknown - likely benign g.59148136T>C - MYSM1(NM_001085487.2):c.580A>G (p.(Lys194Glu)) - MYSM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658G>T r.(?) p.(Asp220Tyr) Unknown - VUS g.59148058C>A g.58682386C>A MYSM1(NM_001085487.3):c.658G>T (p.D220Y) - MYSM1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1091A>G r.(?) p.(Glu364Gly) Unknown - VUS g.59147625T>C - MYSM1(NM_001085487.3):c.1091A>G (p.E364G) - MYSM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1359C>T r.(?) p.(=) Unknown - likely benign g.59142629G>A - MYSM1(NM_001085487.3):c.1359C>T (p.L453=) - MYSM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1432C>T r.(?) p.(Arg478*) Both (homozygous) - pathogenic (recessive) g.59141211G>A g.58675539G>A - - MYSM1_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA154 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
?/. - c.1480C>A r.(?) p.(Arg494Ser) Unknown - VUS g.59141163G>T - - - MYSM1_000011 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1563A>G r.(?) p.(Gln521=) Unknown - likely benign g.59139254T>C - MYSM1(NM_001085487.3):c.1563A>G (p.Q521=) - MYSM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1566G>A r.(?) p.(Thr522=) Unknown - likely benign g.59139251C>T g.58673579C>T MYSM1(NM_001085487.3):c.1566G>A (p.T522=) - MYSM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1662-10del r.(=) p.(=) Unknown - likely benign g.59134727del - MYSM1(NM_001085487.3):c.1662-10delT - MYSM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2031+8A>G r.(=) p.(=) Unknown - likely benign g.59132702T>C g.58667030T>C MYSM1(NM_001085487.2):c.2031+8A>G (p.(=)) - MYSM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2164C>A r.(?) p.(Arg722Ser) Unknown - VUS g.59131171G>T - MYSM1(NM_001085487.3):c.2164C>A (p.R722S) - MYSM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2279C>T r.(?) p.(Pro760Leu) Unknown - VUS g.59126891G>A - - - MYSM1_000010 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2279C>T r.(?) p.(Pro760Leu) Unknown - VUS g.59126891G>A - - - MYSM1_000010 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2279C>T r.(?) p.(Pro760Leu) Unknown - VUS g.59126891G>A - - - MYSM1_000010 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2279C>T r.(?) p.(Pro760Leu) Unknown - VUS g.59126891G>A - - - MYSM1_000010 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2373C>G r.(?) p.(Cys791Trp) Unknown - VUS g.59125783G>C g.58660111G>C MYSM1(NM_001085487.3):c.2373C>G (p.C791W) - MYSM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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