Full data view for gene LMTK2

Information The variants shown are described using the NM_014916.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.297T>C r.(?) p.(Val99=) Unknown - likely benign g.97770774T>C - LMTK2(NM_014916.3):c.297T>C (p.V99=) - LMTK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.684C>T r.(?) p.(Ser228=) Unknown - likely benign g.97800879C>T g.98171567C>T LMTK2(NM_014916.3):c.684C>T (p.S228=) - LMTK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.701G>C r.(?) p.(Arg234Pro) Unknown - likely benign g.97800896G>C - LMTK2(NM_014916.3):c.701G>C (p.R234P) - LMTK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821C>G r.(?) p.(Thr274Ser) Unknown - VUS g.97814392C>G - LMTK2(NM_014916.3):c.821C>G (p.T274S) - LMTK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1441G>A r.(?) p.(Ala481Thr) Unknown - VUS g.97821218G>A g.98191906G>A LMTK2(NM_014916.3):c.1441G>A (p.A481T) - LMTK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2289T>C r.(?) p.(Cys763=) Unknown - likely benign g.97822066T>C - LMTK2(NM_014916.3):c.2289T>C (p.C763=) - LMTK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4039G>A r.(?) p.(Glu1347Lys) Unknown - likely benign g.97823816G>A - LMTK2(NM_014916.3):c.4039G>A (p.E1347K) - LMTK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4285A>C r.(?) p.(Met1429Leu) Both (homozygous) - benign g.97833300A>C g.98203988A>C NM_006578.4:c.629A>G (Asn210Ser) - LMTK2_000010 - PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII3 PubMed: Bayam 2024 3-generation family, 3 affected, unaffected heterozygous carrier parents, older sister (PatII1) 7d-deceased M yes Sudan - 1d - - - 1 Johan den Dunnen
?/. - c.4409G>A r.(?) p.(Arg1470Gln) Unknown - VUS g.97833424G>A - LMTK2(NM_014916.3):c.4409G>A (p.R1470Q) - LMTK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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