All variants

16119 entries on 162 pages. Showing entries 1 - 100.
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Effect     

Chr     

Type     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
+/. 1 Intron - GenBank CDC73_00094 - Presumptive Polymorphisms - Qi Ming
+/. 1 both cytosolic and mitochondrial fumarase were markedly deficient;exhibited half the expected fumara - GenBank FH_00027 - cultured skin fibroblasts - Qi Ming
+/. 1 This mutation is novel, not a frequent cause of HLRCC syndrome. The mitochondrial signal peptide of - GenBank FH_00144 - blood samples or cultured lymphocytes - Qi Ming
+/. 1 The changes occurred at sites of residues which are generally conserved across species - GenBank FH_00136 - blood - Qi Ming
+/. 1 Substitution - GenBank LMNA_00250 - - - Qi Ming
+/. 1 Substitution - GenBank LMNA_00098 - The study of nuclear envelope functions is providing remarkable new insights into fundamental aspects of nuclear structure and dynamics. - Qi Ming
+/. 1 Substitution - GenBank LMNA_00161 - genetic variant identified by HRM analysis - Qi Ming
+/. 1 Substitution - GenBank LMNA_00243 - LMNA genetic variant identified by HRM analysis - Qi Ming
+/. 1 Substitution - GenBank LMNA_00244 - LMNA genetic variant identified by HRM analysis - Qi Ming
+/. 1 Substitution - GenBank LMNA_00183 - This new heart - Qi Ming
+/. 1 Substitution - GenBank LMNA_00255 - - - Qi Ming
+/. 1 Substitution - GenBank LMNA_00257 - - - Qi Ming
+/. 1 Deletion - GenBank LMNA_00225 - This novel LMNA deletion causes a distinct, highly malignant cardiomyopathy with early-onset primary cardiac fibrosis likely due to an effect of the shortened mutant protein, which secondarily leads to arrhythmias and end-stage cardiac failure - Qi Ming
+/. 1 Substitution - GenBank LMNA_00087 - The presence of short inverted sequence homologies at the breakpoint junctions suggested a mutational event involving serial replication slippage in trans during DNA replication. - Qi Ming
+/. 1 unknown - GenBank MMACHA_00006 - Exon - Qi Ming
+/. 1 Exon - GenBank MTR_00009 - c.1348_1349TC>CA - Qi Ming
+/. 1 Exon - GenBank MTR_00009 - c.1348_1349TC>CA - Qi Ming
+/. 1 Intron - GenBank MTR_00163 0.500 - - Qi Ming
+/. 1 Substitution - GenBank NTRK1_00064 - blood - Qi Ming
+/. 1 - - GenBank TNNT2_00005 - Substitution - Qi Ming
+/. 1 new - GenBank TNNT2_00005 - Substitution - Qi Ming
+/. 1 - - GenBank TNNT2_00005 - Substitution - Qi Ming
+/. 1 - - GenBank TNNT2_00005 - Substitution - Qi Ming
+/. 1 - - GenBank TNNT2_00005 - Substitution - Qi Ming
+/. 1 novel; The mutation occurred within a not highly conserved location and was therefore considered a v - GenBank TNNT2_00078 - Substitution - Qi Ming
+/. 1 - - GenBank TNNT2_00104 - Deletion - Qi Ming
+/. 1 associated with a benign or malignant prognosis - GenBank TNNT2_00005 - Substitution - Qi Ming
+/. 1 associated with a benign or malignant prognosis - GenBank TNNT2_00005 - Substitution - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00005 - It is inherited from father who carries the mutation p.M35T. There are four members in this family. The son and daughter are the patients and have mutations p.M35T and p.E257K. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutation p.M35T. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00006 - It is inherited from mother who carries the mutation p.W85X. There are two patients in this family. The patients are brothers and have another normal sister. The patients have mutations p.W85X and p.E257K. The sister carries the mutation p.E257K. The parents are normal. Only maternal sample was available. The mother only carries the mutation p.W85X. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00003 - It is inherited from father who carries the mutation p.V98G. There are three members in this family. The son is the patient and has mutations p.V98G and p.E257K. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutation p.V98G. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00004 - Only the patient's sample was available. The patient has mutations p.E257K and p.V151F. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00007 - It is inherited from father who carries the mutations p.L153V and p.N273D. There are four members in this family. One son is the patient and has the mutations p.E257K, p.L153V and p.N273D. His normal brother carries the mutations p.L153V and p.N273D. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutations p.L153V and p.N273D. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00001 - It is inherited from father who carries the mutation p.Trp169X. There are four members in this family. A son is the patient and has mutations p.W169X and p.E257K. He has an unaffected older brother. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutation p.W169X. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00001 - It is inherited from father who carry the mutation p.Trp169X. There are three members in this family. The son is the patient and has mutations p.W169X and p.E257K. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutation p.W169X. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00001 - It is inherited from mother who carries the mutation p.Trp169X. There are three members in this family. The daughter is the patient and has mutations p.W169X and p.E257K. The parents are normal. The mother only carries the mutation p.W169X. The father carries the mutation p.E257K. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00001 - It is inherited from mother who carries the mutation p.W169X. There are five members in this family. Only the daughter is the patient and has the mutations p.W169X and p.E257K. Her two normal bothers all carry the mutation p.W169X. The parents are normal. The mother only carries the mutation p.W169X. The father carries the mutation p.E257K. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - It is inherited from mother who carries the mutation p.E257K. There are four members in this family. A son is the patient and has mutations p.W169X and p.E257K. He has an unaffected older brother. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutation p.W169X. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - It is inherited from mother who carry the mutation p.E257K. There are three members in this family. The son is the patient and has mutations p.W169X and p.E257K. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutation p.W169X. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - It is inherited from father who carries the mutation p.E257K. There are three members in this family. The daughter is the patient and has mutations p.W169X and p.E257K. The parents are normal. The mother only carries the mutation p.W169X. The father carries the mutation p.E257K. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - It is inherited from mother who carries the mutation p.E257K. There are three members in this family. The son is the patient and has mutations p.V98G and p.E257K. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutation p.V98G. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - Only the patient's sample was available. The patient has mutations p.E257K and p.V151F. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - It is inherited from mother who carries the mutation p.E257K. There are four members in this family. The son and daughter are the patients and have mutations p.M35T and p.E257K. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutation p.M35T. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - It may be inherited from father who carries the mutation p.E257K. There are two patients in this family. The patients are brothers and have another normal sister. The patients have mutations p.W85X and p.E257K. The sister carries the mutation p.E257K. The parents are normal. Only maternal sample was available. The mother only carries the mutation p.W85X. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - It is inherited from father who carries the mutation p.E257K. There are five members in this family. Only the daughter is the patient and has the mutations p.W169X and p.E257K. Her two normal bothers all carry the mutation p.W169X. The parents are normal. The mother only carries the mutation p.W169X. The father carries the mutation p.E257K. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00002 - It is inherited from mother who carries the mutation p.E257K. There are four members in this family. One son is the patient and has the mutations p.E257K, p.L153V and p.N273D. His normal brother carries the mutations p.L153V and p.N273D. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutations p.L153V and p.N273D. - Qi Ming
+/. 1 Substitution - GenBank NMNAT1_00008 - It is inherited from father who carries the mutations p.N273D and p.L153V. There are four members in this family. One son is the patient and has the mutations p.E257K, p.L153V and p.N273D. His normal brother carries the mutations p.L153V and p.N273D. The parents are normal. The mother only carries the mutation p.E257K. The father carries the mutations p.L153V and p.N273D. - Qi Ming
+/. 1 unknown - GenBank MMACHA_00008 1/3 5' Geneflanking - Qi Ming
+/. 1 unknown - GenBank MMACHC_00060 N.D Intron - Qi Ming
+/. 1 unknown - GenBank MMACHC_00046 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00046 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00046 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00046 - Exon - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHC_00017 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 blood - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 Italian - GenBank MMACHC_00007 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00047 - Exon - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHC_00018 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00018 - Exon - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHC_00042 - Intron - Qi Ming
+/. 1 blood - GenBank MMACHC_00042 - Intron - Qi Ming
+/. 1 unknown - GenBank MMACHC_00059 0.500 Intron - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHA_00004 - Intron - Qi Ming
+/. 1 unknown - GenBank MMACHA_00004 - Intron - Qi Ming
+/. 1 unknown - GenBank MMACHA_00004 - Intron - Qi Ming
+/. 1 unknown - GenBank MMACHC_00057 - Intron - Qi Ming
+/. 1 blood - GenBank MMACHC_00009 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00048 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00049 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00050 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHA_00007 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00061 N.D Exon - Qi Ming
+/. 1 blood - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 cultured fibroblast - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00008 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00005 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00005 - Exon - Qi Ming
+/. 1 unknown - GenBank MMACHC_00005 - Exon - Qi Ming
+/. 1 blood - GenBank MMACHC_00005 - Exon - Qi Ming
+/. 1 blood - GenBank MMACHC_00005 - Exon - Qi Ming
+/. 1 blood - GenBank MMACHC_00005 - Exon - Qi Ming
+/. 1 blood - GenBank MMACHC_00005 - Exon - Qi Ming
+/. 1 blood - GenBank MMACHC_00005 - Exon - Qi Ming
+/. 1 blood - GenBank MMACHC_00005 - Exon - Qi Ming
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