LOVD - Variant listings for RET

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Exon Hide Exon column Descending
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?/? - c.-37G>C - r.(?) p.? RET_00023 - germline (inherited) Human Mutation humu-2012-0537.R1 (in press) DNA SEQ - - HK97C Hirschsprung disease - - Hong Kong:HONG KONG unknown - - 1 - - Male - -
?/? 5 c.938G>A - r.(?) p.(Arg313Gln) RET_00021 - unknown Human Mutation humu-2012-0537.R1 (in press) DNA SEQ - - C216C Hirschsprung disease - - Hong Kong:HONG KONG unknown - - 1 - - Male - -
?/? 5i c.1063+9G>A - r.(spl?) p.? RET_00024 - unknown Human Mutation humu-2012-0537.R1 (in press) DNA SEQ - - 3941 Hirschsprung disease - - Hong Kong:HONG KONG unknown - - 1 - - - - -
?/? 10 c.1825T>C - r.(?) p.(Cys609Arg) RET_00001 - - Frank-Raue et al 2011 - - - - 1 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1825T>G - r.(?) p.(Cys609Gly) RET_00002 - - Frank-Raue et al 2011 - - - - 2 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1826G>A - r.(?) p.(Cys609Tyr) RET_00003 - - Frank-Raue et al 2011 - - - - 3 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1826G>C - r.(?) p.(Cys609Ser) RET_00004 - - Frank-Raue et al 2011 - - - - 4 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1826G>T - r.(?) p.(Cys609Phe) RET_00005 - - Frank-Raue et al 2011 - - - - 5 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1832G>A - r.(?) p.(Cys611Tyr) RET_00006 - - Frank-Raue et al 2011 - - - - 6 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1832G>T - r.(?) p.(Cys611Phe) RET_00008 - - Frank-Raue et al 2011 - - - - 8 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1832G>T - r.(?) p.(Cys611Phe) RET_00008 - - Frank-Raue et al 2011 - - - - 9 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1833C>G - r.(?) p.(Cys611Trp) RET_00007 - - Frank-Raue et al 2011 - - - - 7 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1852T>A - r.(?) p.(Cys618Ser) RET_00009 - - Frank-Raue et al 2011 - - - - 19 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1852T>C - r.(?) p.(Cys618Arg) RET_00010 - - Frank-Raue et al 2011 - - - - 11 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1852T>G - r.(?) p.(Cys618Gly) RET_00011 - - Frank-Raue et al 2011 - - - - 12 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1853G>A - r.(?) p.(Cys618Tyr) RET_00013 - - Frank-Raue et al 2011 - - - - 14 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1853G>C - r.(?) p.(Cys618Ser) RET_00012 - - Frank-Raue et al 2011 - - - - 13 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1853G>T - r.(?) p.(Cys618Phe) RET_00014 - - Frank-Raue et al 2011 - - - - 15 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1858T>C - r.(?) p.(Cys620Arg) RET_00015 - - Frank-Raue et al 2011 - - - - 16 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1858T>G - r.(?) p.(Cys620Gly) RET_00016 - - Frank-Raue et al 2011 - - - - 17 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1859G>A - r.(?) p.(Cys620Tyr) RET_00017 - - Frank-Raue et al 2011 - - - - 18 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1859G>C - r.(?) p.(Cys620Ser) RET_00018 - - Frank-Raue et al 2011 - - - - 19 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1859G>T - r.(?) p.(Cys620Phe) RET_00020 - - Frank-Raue et al 2011 - - - - 21 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 10 c.1860C>G - r.(?) p.(Cys620Trp) RET_00019 - - Frank-Raue et al 2011 - - - - 20 Medullary thyroid carcinoma - - - - - - 1 - - - - -
?/? 13 c.2348A>G - r.(?) p.(Asn783Ser) RET_00022 - germline (inherited) Human Mutation humu-2012-0537.R1 (in press) DNA SEQ - - HK122C Hirschsprung disease - - Hong Kong:HONG KONG unknown - - 1 - - Male - -
?/? 19 c.3118_3121del - r.(?) p.(Leu1040Trpfs*68) RET_00025 - de novo Human Mutation humu-2012-0537.R1 (in press) DNA SEQ - - 1832 Hirschsprung disease - - Hong Kong:HONG KONG unknown - - 1 - - - - -
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Legend: [ RET full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon/Intron numbering. DNA change: DNA change Var_pub_as: Variant published as RNA change: RNA change Protein: description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) RET DB-ID: the ID starts with the HGNC gene symbol followed by an underscore (_) and ends with a five digit ID code Variant remarks: Variant remarks Genetic origin: origin of variant, unknown, germline (i.e. inherited), somatic, de novo or from parental disomy (maternal or paternal) Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. Template: Template Technique: Technique Frequency: frequency in which variant was found; e.g 5/76 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested). NOTE: preferred format is 5/76. Restriction-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Patient ID: Internal reference to the patient. Disease: Disease phenotype Phenotype additional: Phenotype, additional features Ref_pat-pheno: reference to publication describing the patient/family and/or giving more phenotypic details than listed in the database, incl. link to PubMed (format {PMID1:2} where 1 = PubMedID, 2 = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346" Inherit: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # Reported: number of independent families or patients per family reported (for summary data); when details are given for individual families/patients or for several patients per family give these in individual records. Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: gender of patient Phenotype/Onset: Phenotype/Onset Histology: -