Full data view for gene MTSS1L

NOTE: gene name changed from MTSS1L to MTSS2
Information The variants shown are described using the NM_138383.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-2304C>G r.(?) p.(=) Unknown - VUS g.70721998G>C g.70688095G>C VAC14(NM_018052.3):c.2187-5C>G (p.?) - VAC14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.70719694T>C - - - MTSS1L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70-8C>T r.(=) p.(=) Unknown - likely benign g.70714936G>A - MTSS2(NM_138383.3):c.70-8C>T - MTSS1L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494A>G r.(?) p.(Asp165Gly) Unknown - likely benign g.70712285T>C - MTSS2(NM_138383.3):c.494A>G (p.(Asp165Gly)) - MTSS1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.881G>A r.(?) p.(Gly294Glu) Unknown - benign g.70708381C>T - MTSS1L(NM_138383.2):c.881G>A (p.(Gly294Glu)) - MTSS1L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984T>C r.(?) p.(Ser328=) Unknown - likely benign g.70708278A>G g.70674375A>G MTSS1L(NM_138383.2):c.984T>C (p.S328=) - MTSS1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1208G>A r.(?) p.(Arg403Gln) Unknown - VUS g.70698920C>T - MTSS2(NM_138383.3):c.1208G>A (p.R403Q) - IL34_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1268C>T r.(?) p.(Pro423Leu) Unknown - likely benign g.70698860G>A - MTSS1L(NM_138383.2):c.1268C>T (p.(Pro423Leu)) - IL34_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1330G>A r.(?) p.(Ala444Thr) Unknown - likely benign g.70698642C>T - MTSS2(NM_138383.3):c.1330G>A (p.(Ala444Thr)) - IL34_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1784C>T r.(?) p.(Thr595Met) Unknown - likely benign g.70698040G>A - MTSS2(NM_138383.3):c.1784C>T (p.(Thr595Met)) - IL34_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1790C>T r.(?) p.(Thr597Met) Both (homozygous) - likely pathogenic (recessive) g.70698034G>A g.70664131G>A - - MTSS1L_000002 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam10DG0264 PubMed: Alazami 2015, Journal: Alazami 2015 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 3 Johan den Dunnen
-?/. - c.1790C>T r.(?) p.(Thr597Met) Unknown - likely benign g.70698034G>A g.70664131G>A - - MTSS1L_000002 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.016 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1897G>C r.(?) p.(Ala633Pro) Unknown - likely benign g.70697927C>G - MTSS1L(NM_138383.2):c.1897G>C (p.(Ala633Pro)) - IL34_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1946C>G r.(?) p.(Ser649Cys) Unknown - likely benign g.70697878G>C - MTSS1L(NM_138383.2):c.1946C>G (p.(Ser649Cys)) - IL34_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2011C>T r.(?) p.(Arg671Trp) Unknown - VUS g.70697813G>A g.70663910G>A MTSS1L(NM_138383.2):c.2011C>T (p.R671W) - MTSS1L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15 c.2011C>T r.(?) p.(Arg671Trp) Unknown ACMG likely pathogenic (dominant) g.70697813G>A g.70663910G>A - - MTSS1L_000001 - PubMed: Huang 2022 - - De novo - - - - - DNA SEQ-NG - Trio WES ID Pat2 PubMed: Huang 2022 2 generation family, 1 affected, unaffected non carrier parents. F no - Europe >42y - - - 1 Fernanda Soledad Jalil
+?/. 15 c.2011C>T r.(?) p.(Arg671Trp) Unknown ACMG likely pathogenic (dominant) g.70697813G>A g.70663910G>A - - MTSS1L_000001 - PubMed: Huang 2022 ClinVar-RCV001255620.2 - De novo - - - - - DNA SEQ-NG - Trio WES ID Pat3 PubMed: Huang 2022 2-generation family, 1 affected, unaffected no carrier parents. M no - Europe >15y - - - 1 Fernanda Soledad Jalil
+?/. - c.2011C>T r.(?) p.(Arg671Trp) Unknown ACMG likely pathogenic (dominant) g.70697813G>A g.70663910G>A - - MTSS1L_000001 - PubMed: Huang 2022 - - De novo - - - - - DNA SEQ-NG - Trio WES ID Pat4 PubMed: Huang 2022 2-generation family, 1 affected, unaffected no carrier parents. M no - Europe >00y14m - - - 1 Fernanda Soledad Jalil
+?/. 15 c.2011C>T r.(?) p.(Arg671Trp) Unknown ACMG likely pathogenic (dominant) g.70697813G>A g.70663910G>A - - MTSS1L_000001 - PubMed: Huang 2022 - - De novo - - - - - DNA SEQ-NG - Trio WES ID Pat5 PubMed: Huang 2022 2-generation family, 1 affected, unaffected no carrier parents. M no - chinese >00y21m - - - 1 Fernanda Soledad Jalil
+?/. - c.2011C>T r.(?) p.(Arg671Trp) Unknown - likely pathogenic g.70697813G>A - MTSS1L(NM_138383.2):c.2011C>T (p.R671W) - MTSS1L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15 c.2011C>T r.(?) p.(Arg671Trp) Unknown ACMG likely pathogenic (dominant) g.70697813G>A g.70663910G>A - - MTSS1L_000001 - PubMed: Huang 2022 - - De novo - - - - - DNA SEQ-NG - Trio WES ID Pat1 PubMed: Huang 2022 2 generation family, 1 affected, unaffected non carrier parents. M no - Europe >08y - - - 1 Fernanda Soledad Jalil
+/. 15 c.2011C>T r.(?) p.(Arg671Trp) Unknown ACMG pathogenic (dominant) g.70697813G>A g.70663910G>A - - MTSS1L_000001 - - - - De novo - - - - - DNA SEQ-NG - WES DD - - - M no Mexico Latino - - - - 1 Juan Carlos Zenteno
-?/. - c.2120C>T r.(?) p.(Thr707Met) Unknown - likely benign g.70697704G>A - MTSS2(NM_138383.3):c.2120C>T (p.(Thr707Met)) - IL34_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2218G>T r.(?) p.(Asp740Tyr) Unknown - VUS g.70697606C>A g.70663703C>A MTSS1L(NM_138383.2):c.2218G>T (p.D740Y) - IL34_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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