question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 7, position 128846394, in gene FLNC (filamin C) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GAGGGACTTATGTGCCTGGAGTGGGCACAGCCAAGGGTGTGGGGCTGAGGCCAGCCCCACCCCACCACCTGCCTTGGAGACAACTTAGCTATTAAGAGCCTGGCCTTGGAGTCACACCTGGGCTTGAATCCCAGGTCCACTAACTGGGGCAAATTGCTTCATCTCGCTGCCTCAATGTCATCACCTGGGATTGTTATAAGCACTCAGTCCACAGTAGCAGCCACAGTTGGAGGTGATGAGTTGGGTGGGGGCCATGAAGGCTGGGATGAGGAGGCCAGGTGCAGGGAACCCACAACCTGCCTCTTCCCCTAGGTCTGTGC... | GAGGGACTTATGTGCCTGGAGTGGGCACAGCCAAGGGTGTGGGGCTGAGGCCAGCCCCACCCCACCACCTGCCTTGGAGACAACTTAGCTATTAAGAGCCTGGCCTTGGAGTCACACCTGGGCTTGAATCCCAGGTCCACTAACTGGGGCAAATTGCTTCATCTCGCTGCCTCAATGTCATCACCTGGGATTGTTATAAGCACTCAGTCCACAGTAGCAGCCACAGTTGGAGGTGATGAGTTGGGTGGGGGCCATGAAGGCTGGGATGAGGAGGCCAGGTGCAGGGAACCCACAACCTGCCTCTTCCCCTAGGTCTGTGC... | pathogenic | 127,880 |
Does the genetic variant at chromosome 7, position 128846886, impacting gene FLNC (filamin C), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GAGCCTGGCGAGTACACCATCAACATCCTGTTTGCTGAGGCCCACATCCCTGGCTCGCCCTTCAAAGCCACCATTCGGCCTGTGTTTGACCCGAGCAAGGTGCGGGCCAGTGGACCGGGCCTGGAGCGCGGCAAGGTCGGTGAGGCAGCCACCTTCACTGTGGACTGCTCAGAGGCAGGCGAGGCGGAGCTGACCATTGAGATCCTGTCGGATGCCGGGGTCAAGGCCGAGGTGCTGATCCACAACAACGCGGATGGCACCTACCACATCACCTACAGCCCTGCCTTCCCTGGCACCTACACCATTACCATCAAGTATGG... | GAGCCTGGCGAGTACACCATCAACATCCTGTTTGCTGAGGCCCACATCCCTGGCTCGCCCTTCAAAGCCACCATTCGGCCTGTGTTTGACCCGAGCAAGGTGCGGGCCAGTGGACCGGGCCTGGAGCGCGGCAAGGTCGGTGAGGCAGCCACCTTCACTGTGGACTGCTCAGAGGCAGGCGAGGCGGAGCTGACCATTGAGATCCTGTCGGATGCCGGGGTCAAGGCCGAGGTGCTGATCCACAACAACGCGGATGGCACCTACCACATCACCTACAGCCCTGCCTTCCCTGGCACCTACACCATTACCATCAAGTATGG... | pathogenic | 127,898 |
Considering the variant on chromosome 7, location 128848692, involving gene FLNC (filamin C), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | CCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCGGGGGGCGGCCCATCCCAGGTGTGCAGAGAGAGTGGTCGGGGTCTCAGGGAAGACAAGGGAGGGTGCAGGATGCTCG... | CCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCGGGGGGCGGCCCATCCCAGGTGTGCAGAGAGAGTGGTCGGGGTCTCAGGGAAGACAAGGGAGGGTGCAGGATGCTCG... | pathogenic | 127,943 |
Variant at chromosome 7, position 128848722, gene FLNC (filamin C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCGGGGGGCGGCCCATCCCAGGTGTGCAGAGAGAGTGGTCGGGGTCTCAGGGAAGACAAGGGAGGGTGCAGGATGCTCGCCCCACAAGGGGGAAACTGGAAGGAAGTTG... | CCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCGGGGGGCGGCCCATCCCAGGTGTGCAGAGAGAGTGGTCGGGGTCTCAGGGAAGACAAGGGAGGGTGCAGGATGCTCGCCCCACAAGGGGGAAACTGGAAGGAAGTTG... | benign | 127,945 |
Determine if the mutation at chromosome 7, position 128848974 in gene FLNC (filamin C) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5', 'Primary_dilated_cardiomyopathy'] | GGGTCTCAGGGAAGACAAGGGAGGGTGCAGGATGCTCGCCCCACAAGGGGGAAACTGGAAGGAAGTTGGGTAAGAATGTTCATAGAGAGGACAGCCTAGAGTGGGTTGGGGCCGGAGCCCGGCCAGAGGGAGGACGTGGAGGAGGCAGGCAATGAGGGTTGATGTGACAGCCCCCCTAGTCAATCACAGGAACACACTCTGGCCTCCTAGCCCCTTGTCTGGAGCTCAAGACCTTGGCTTTGCAGGTCCACCACTCACTGTGTGTCCAGAAACTCAGACACAGTCCACTCCTCTTGGCGGCTCAGGCCAGCCTTGGGCCT... | GGGTCTCAGGGAAGACAAGGGAGGGTGCAGGATGCTCGCCCCACAAGGGGGAAACTGGAAGGAAGTTGGGTAAGAATGTTCATAGAGAGGACAGCCTAGAGTGGGTTGGGGCCGGAGCCCGGCCAGAGGGAGGACGTGGAGGAGGCAGGCAATGAGGGTTGATGTGACAGCCCCCCTAGTCAATCACAGGAACACACTCTGGCCTCCTAGCCCCTTGTCTGGAGCTCAAGACCTTGGCTTTGCAGGTCCACCACTCACTGTGTGTCCAGAAACTCAGACACAGTCCACTCCTCTTGGCGGCTCAGGCCAGCCTTGGGCCT... | pathogenic | 127,961 |
Does the variant on chromosome 7 at location 128849197 affecting gene FLNC (filamin C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GCTCAAGACCTTGGCTTTGCAGGTCCACCACTCACTGTGTGTCCAGAAACTCAGACACAGTCCACTCCTCTTGGCGGCTCAGGCCAGCCTTGGGCCTTCTTGCACGCATCGTCTGCAGAACTCCCCTGCCCTCTGCAGACCCAGCTGCCCGGGCAGGTCATGTCTTCAAATATTGTATGACTTGGGACTGCTGAAATTGGAAATTTTTTCCCTTATCTAATTTCCCATCTTTTTATTATTTCAGCCACAGTGTCAGAAATACATTTCATTTTTGAAAACATTTTATTTTCACATTTTATTAATTTAGGAAGGCCTTCTCT... | GCTCAAGACCTTGGCTTTGCAGGTCCACCACTCACTGTGTGTCCAGAAACTCAGACACAGTCCACTCCTCTTGGCGGCTCAGGCCAGCCTTGGGCCTTCTTGCACGCATCGTCTGCAGAACTCCCCTGCCCTCTGCAGACCCAGCTGCCCGGGCAGGTCATGTCTTCAAATATTGTATGACTTGGGACTGCTGAAATTGGAAATTTTTTCCCTTATCTAATTTCCCATCTTTTTATTATTTCAGCCACAGTGTCAGAAATACATTTCATTTTTGAAAACATTTTATTTTCACATTTTATTAATTTAGGAAGGCCTTCTCT... | pathogenic | 127,966 |
Chromosome 7, position 128849426, gene FLNC (filamin C): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | TTTTTATTATTTCAGCCACAGTGTCAGAAATACATTTCATTTTTGAAAACATTTTATTTTCACATTTTATTAATTTAGGAAGGCCTTCTCTTCCAGGCCTGGGACCCACATGAGTGAGGTTTGCCCAGCCTCAGTCTGCAGTCAAGTTCATTTATTCTTGTGTGTGTTTTCTTAGCAAGTTCCTAGCCATTTTCCCATGTTGGTCTGGCTTCCCTGTGGGCATTTCAAAGGCAGGGAAGGCCTCCTCCTCCGAGGCTCCTCAGCATCAGGGGGACCCATCAGGGCTGGTGGGCAGGGTCTAATGTCCTTCTCCTCACAGG... | TTTTTATTATTTCAGCCACAGTGTCAGAAATACATTTCATTTTTGAAAACATTTTATTTTCACATTTTATTAATTTAGGAAGGCCTTCTCTTCCAGGCCTGGGACCCACATGAGTGAGGTTTGCCCAGCCTCAGTCTGCAGTCAAGTTCATTTATTCTTGTGTGTGTTTTCTTAGCAAGTTCCTAGCCATTTTCCCATGTTGGTCTGGCTTCCCTGTGGGCATTTCAAAGGCAGGGAAGGCCTCCTCCTCCGAGGCTCCTCAGCATCAGGGGGACCCATCAGGGCTGGTGGGCAGGGTCTAATGTCCTTCTCCTCACAGG... | pathogenic | 127,982 |
A genetic alteration at chromosome 7, position 128849539, in gene FLNC (filamin C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GTGAGGTTTGCCCAGCCTCAGTCTGCAGTCAAGTTCATTTATTCTTGTGTGTGTTTTCTTAGCAAGTTCCTAGCCATTTTCCCATGTTGGTCTGGCTTCCCTGTGGGCATTTCAAAGGCAGGGAAGGCCTCCTCCTCCGAGGCTCCTCAGCATCAGGGGGACCCATCAGGGCTGGTGGGCAGGGTCTAATGTCCTTCTCCTCACAGGGAGCCCGTTCCGCGTGCCAGTGAAGGATGTGGTGGACCCTGGGAAGGTGAAGTGCTCAGGGCCAGGGCTGGGGGCTGGTGTCAGGGCCCGGGTTCCTCAGACCTTCACAGTGG... | GTGAGGTTTGCCCAGCCTCAGTCTGCAGTCAAGTTCATTTATTCTTGTGTGTGTTTTCTTAGCAAGTTCCTAGCCATTTTCCCATGTTGGTCTGGCTTCCCTGTGGGCATTTCAAAGGCAGGGAAGGCCTCCTCCTCCGAGGCTCCTCAGCATCAGGGGGACCCATCAGGGCTGGTGGGCAGGGTCTAATGTCCTTCTCCTCACAGGGAGCCCGTTCCGCGTGCCAGTGAAGGATGTGGTGGACCCTGGGAAGGTGAAGTGCTCAGGGCCAGGGCTGGGGGCTGGTGTCAGGGCCCGGGTTCCTCAGACCTTCACAGTGG... | pathogenic | 127,992 |
The mutation impacting FLNC on chromosome 7 at position 128851469: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Conduction_disorder_of_the_heart', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | CGGTGTCCACGCCGGATGGGGCAGAGCTCGATGTGGATGTGGTTGAGAACCATGACGGTACCTTTGACATCTACTACACAGCGCCCGAGCCGGGCAAGTACGTCATCACCATCCGCTTCGGGGGTGAGCACATCCCCAACAGCCCCTTCCACGTGCTGGTAAGTTCTGTAGCCACAGCAAGACTAGATGGCTGGGGAGGGGGGCCTGGCCCTTTTAGCAGCAGCAGGGATCCCAGATAACTGTCCCCAAGGAATCCCACTTCTCTGAGGGCTCCTGGGGCCAGAGTGCTCCAGGATGGAGCCTTAACTTTCCCCACAGCA... | CGGTGTCCACGCCGGATGGGGCAGAGCTCGATGTGGATGTGGTTGAGAACCATGACGGTACCTTTGACATCTACTACACAGCGCCCGAGCCGGGCAAGTACGTCATCACCATCCGCTTCGGGGGTGAGCACATCCCCAACAGCCCCTTCCACGTGCTGGTAAGTTCTGTAGCCACAGCAAGACTAGATGGCTGGGGAGGGGGGCCTGGCCCTTTTAGCAGCAGCAGGGATCCCAGATAACTGTCCCCAAGGAATCCCACTTCTCTGAGGGCTCCTGGGGCCAGAGTGCTCCAGGATGGAGCCTTAACTTTCCCCACAGCA... | pathogenic | 128,041 |
Determine if the mutation at chromosome 7, position 128851488 in gene FLNC is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GGCAGAGCTCGATGTGGATGTGGTTGAGAACCATGACGGTACCTTTGACATCTACTACACAGCGCCCGAGCCGGGCAAGTACGTCATCACCATCCGCTTCGGGGGTGAGCACATCCCCAACAGCCCCTTCCACGTGCTGGTAAGTTCTGTAGCCACAGCAAGACTAGATGGCTGGGGAGGGGGGCCTGGCCCTTTTAGCAGCAGCAGGGATCCCAGATAACTGTCCCCAAGGAATCCCACTTCTCTGAGGGCTCCTGGGGCCAGAGTGCTCCAGGATGGAGCCTTAACTTTCCCCACAGCACCCCCGAAGTGGGAGGAGA... | GGCAGAGCTCGATGTGGATGTGGTTGAGAACCATGACGGTACCTTTGACATCTACTACACAGCGCCCGAGCCGGGCAAGTACGTCATCACCATCCGCTTCGGGGGTGAGCACATCCCCAACAGCCCCTTCCACGTGCTGGTAAGTTCTGTAGCCACAGCAAGACTAGATGGCTGGGGAGGGGGGCCTGGCCCTTTTAGCAGCAGCAGGGATCCCAGATAACTGTCCCCAAGGAATCCCACTTCTCTGAGGGCTCCTGGGGCCAGAGTGCTCCAGGATGGAGCCTTAACTTTCCCCACAGCACCCCCGAAGTGGGAGGAGA... | pathogenic | 128,043 |
Considering the variant on chromosome 7, location 128852831, involving gene FLNC, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | TAACTGTGTCTGCCCTGCAGGAGAGGTGCGGATGCCCTCGGGGAAGACGGCACGGCCCAACATCACCGACAACAAGGACGGCACCATCACGGTGAGGTATGCACCCACTGAGAAAGGCCTGCACCAGATGGGGATCAAGTATGACGGCAACCACATCCCTGGTGAGTTAGGGGCTGGGCTGGGCTGGGGCTTGGGTGAGAGGAGCAGGCCGTAGCTTCAGTCCTGCCTTCCCTCTTTCAACAAATATTTATTGAGCACCCGCTGTGTGCAGACACCAGGCGAGGCCCCAGGGAGGCTTATACCCTGGTGGGAAGCAGACC... | TAACTGTGTCTGCCCTGCAGGAGAGGTGCGGATGCCCTCGGGGAAGACGGCACGGCCCAACATCACCGACAACAAGGACGGCACCATCACGGTGAGGTATGCACCCACTGAGAAAGGCCTGCACCAGATGGGGATCAAGTATGACGGCAACCACATCCCTGGTGAGTTAGGGGCTGGGCTGGGCTGGGGCTTGGGTGAGAGGAGCAGGCCGTAGCTTCAGTCCTGCCTTCCCTCTTTCAACAAATATTTATTGAGCACCCGCTGTGTGCAGACACCAGGCGAGGCCCCAGGGAGGCTTATACCCTGGTGGGAAGCAGACC... | pathogenic | 128,085 |
Evaluate the clinical significance of the mutation at chromosome 7, position 128853012 in gene FLNC: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GGCTGGGGCTTGGGTGAGAGGAGCAGGCCGTAGCTTCAGTCCTGCCTTCCCTCTTTCAACAAATATTTATTGAGCACCCGCTGTGTGCAGACACCAGGCGAGGCCCCAGGGAGGCTTATACCCTGGTGGGAAGCAGACCTCCACCAGCTGGGTCCCTACGGCACAGACGGAGGGGGTTGGCAGGGAGGCTGCTGGAAGGTGCTGGGGCCAAGGTGGGCTCAGATAATCCCTGATGCTGACCCAGCCCCCTTTTTCTCTGTATCCCCAGGGAGCCCCTTACAGTTCTATGTGGATGCCATCAACAGCCGCCATGTCAGTGC... | GGCTGGGGCTTGGGTGAGAGGAGCAGGCCGTAGCTTCAGTCCTGCCTTCCCTCTTTCAACAAATATTTATTGAGCACCCGCTGTGTGCAGACACCAGGCGAGGCCCCAGGGAGGCTTATACCCTGGTGGGAAGCAGACCTCCACCAGCTGGGTCCCTACGGCACAGACGGAGGGGGTTGGCAGGGAGGCTGCTGGAAGGTGCTGGGGCCAAGGTGGGCTCAGATAATCCCTGATGCTGACCCAGCCCCCTTTTTCTCTGTATCCCCAGGGAGCCCCTTACAGTTCTATGTGGATGCCATCAACAGCCGCCATGTCAGTGC... | pathogenic | 128,097 |
Gene mutation in FLNC at chromosome 7, position 128853499—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | ACAGGGGGTCTGTCACTGGCCGTGGAGGGCCCATCCAAGGCAGAGATCACCTGTAAGGACAACAAGGATGGCACCTGCACCGTGTCCTATCTGCCGACTGCGCCTGGAGACTACAGCATCATCGTGCGCTTCGATGACAAGCACATCCCGGGGAGCCCCTTCACAGCCAAGATCACAGGTGAGGCGGGTGTATGGGCATGTACAGCCCATGAGGCACACACACCGCATACAGTGCACTCATGTGCAAGCCCAGCCCGTTCAAGTCACTCGTGACATTAGGGCAGAGGCCCTTCAAGGTGTGAGGGGTCATATTTTGATAA... | ACAGGGGGTCTGTCACTGGCCGTGGAGGGCCCATCCAAGGCAGAGATCACCTGTAAGGACAACAAGGATGGCACCTGCACCGTGTCCTATCTGCCGACTGCGCCTGGAGACTACAGCATCATCGTGCGCTTCGATGACAAGCACATCCCGGGGAGCCCCTTCACAGCCAAGATCACAGGTGAGGCGGGTGTATGGGCATGTACAGCCCATGAGGCACACACACCGCATACAGTGCACTCATGTGCAAGCCCAGCCCGTTCAAGTCACTCGTGACATTAGGGCAGAGGCCCTTCAAGGTGTGAGGGGTCATATTTTGATAA... | pathogenic | 128,106 |
Classify the chromosome 7 variant at position 128853981 affecting gene FLNC as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | TCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCATGAAGTCACTCTTAAGAAGTTAGGGCACGGATAATCCTTTTGATAGATAAGGAACCCCTGTCCCAGAGAGGCCAAGCAACATGATTACA... | TCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCATGAAGTCACTCTTAAGAAGTTAGGGCACGGATAATCCTTTTGATAGATAAGGAACCCCTGTCCCAGAGAGGCCAAGCAACATGATTACA... | pathogenic | 128,121 |
Is the variant located on chromosome 7 at position 128855297, gene FLNC, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GTCCCTCCCTTGCTCACTGGAATCCAAGAGGCTTACCTTAGGGAATTTTCCAGACCGCCTGTCCCGTGGTGCCCCCGCTCCTCCCACTGAGCCATTTTTGTTAGTGGTCACTACACACATCGGTGCCCATTCTGGGTGGAGCCTGCAGTCTGGGGAGAGGAAAGCATTGTGGCTTGGCCAGCCTAGGACTGAGGGAGATGTGTTCCTTGCTTTCCCCCAGGTTATGGGGGCTTGGGGCTGAGTATTGAAGGCCCAAGCAAGGTGGACATCAACTGTGAGGACATGGAGGACGGGACATGCAAAGTCACCTACTGCCCCAC... | GTCCCTCCCTTGCTCACTGGAATCCAAGAGGCTTACCTTAGGGAATTTTCCAGACCGCCTGTCCCGTGGTGCCCCCGCTCCTCCCACTGAGCCATTTTTGTTAGTGGTCACTACACACATCGGTGCCCATTCTGGGTGGAGCCTGCAGTCTGGGGAGAGGAAAGCATTGTGGCTTGGCCAGCCTAGGACTGAGGGAGATGTGTTCCTTGCTTTCCCCCAGGTTATGGGGGCTTGGGGCTGAGTATTGAAGGCCCAAGCAAGGTGGACATCAACTGTGAGGACATGGAGGACGGGACATGCAAAGTCACCTACTGCCCCAC... | pathogenic | 128,187 |
Variant at chromosome 7, position 128856636, gene FLNC: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | CTTTCAGTTCACTGTGGGGCCGCTGGGTGAAGGTGGTGCCCACAAGGTGCGGGCCGGAGGCACAGGGCTGGAGCGAGGTGTGGCCGGCGTGCCAGGTAAGGGGCAGGTGGCCAGGAGTGGGGATGAAGTCAGGGCAGCCAGTGTGAGGGGCGATGATGCTGAAGTCCACTACCTTGCCTGTCCCCAGCCGAGTTCAGCATCTGGACCCGGGAGGCTGGCGCTGGGGGCCTGTCCATTGCTGTGGAGGGTCCTAGCAAAGCGGAGATTGCATTTGAGGATCGCAAAGATGGCTCCTGCGGCGTCTCCTATGTCGTCCAGGA... | CTTTCAGTTCACTGTGGGGCCGCTGGGTGAAGGTGGTGCCCACAAGGTGCGGGCCGGAGGCACAGGGCTGGAGCGAGGTGTGGCCGGCGTGCCAGGTAAGGGGCAGGTGGCCAGGAGTGGGGATGAAGTCAGGGCAGCCAGTGTGAGGGGCGATGATGCTGAAGTCCACTACCTTGCCTGTCCCCAGCCGAGTTCAGCATCTGGACCCGGGAGGCTGGCGCTGGGGGCCTGTCCATTGCTGTGGAGGGTCCTAGCAAAGCGGAGATTGCATTTGAGGATCGCAAAGATGGCTCCTGCGGCGTCTCCTATGTCGTCCAGGA... | pathogenic | 128,202 |
Benign or pathogenic: chromosome 7, position 128856894, gene FLNC variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GCGGAGATTGCATTTGAGGATCGCAAAGATGGCTCCTGCGGCGTCTCCTATGTCGTCCAGGAACCAGGTGGGCGTCCACACTGGCAGTGGGGCTGGGCCTGCCTGACCTTCCAGACTGGGTTTCTGCCCACTGGCCAGGCAGGAGATGCTTGGGGCCACAGAACTCCCCTCCCCGGAGCCCCCTGCTCTTCCTCTGCCCCGTCTCCCTCTACCCCACACCCTCAGAAACATGTGTCTGCCTCCAGATCTGAGCGCTGACCACAGAGCCTTTCCTGGGATAAGGCCAGGGTGGGGAGGCTCCCGCCCTGCCAACCTCCATC... | GCGGAGATTGCATTTGAGGATCGCAAAGATGGCTCCTGCGGCGTCTCCTATGTCGTCCAGGAACCAGGTGGGCGTCCACACTGGCAGTGGGGCTGGGCCTGCCTGACCTTCCAGACTGGGTTTCTGCCCACTGGCCAGGCAGGAGATGCTTGGGGCCACAGAACTCCCCTCCCCGGAGCCCCCTGCTCTTCCTCTGCCCCGTCTCCCTCTACCCCACACCCTCAGAAACATGTGTCTGCCTCCAGATCTGAGCGCTGACCACAGAGCCTTTCCTGGGATAAGGCCAGGGTGGGGAGGCTCCCGCCCTGCCAACCTCCATC... | pathogenic | 128,221 |
Considering the genetic mutation at chromosome 7, position 128857136, impacting FLNC: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5', 'Primary_familial_dilated_cardiomyopathy'] | CAGATCTGAGCGCTGACCACAGAGCCTTTCCTGGGATAAGGCCAGGGTGGGGAGGCTCCCGCCCTGCCAACCTCCATCCCGGAACCTGTGCTGACTGGTCTCTCTCCCCAGGTGACTATGAGGTCTCCATCAAGTTCAATGATGAGCACATCCCAGACAGCCCCTTTGTGGTGCCTGTGGCCTCCCTCTCGGATGACGCTCGCCGTCTCACTGTCACCAGCCTCCAGGTTTGTGCCCAGGGTGGGGGTGGAGGGTTTCTGCTATCTGAGAGATGGGCAGGAGTTGAGGACAGCAGGTCCATGGGGCCAGGGATTTAGCAG... | CAGATCTGAGCGCTGACCACAGAGCCTTTCCTGGGATAAGGCCAGGGTGGGGAGGCTCCCGCCCTGCCAACCTCCATCCCGGAACCTGTGCTGACTGGTCTCTCTCCCCAGGTGACTATGAGGTCTCCATCAAGTTCAATGATGAGCACATCCCAGACAGCCCCTTTGTGGTGCCTGTGGCCTCCCTCTCGGATGACGCTCGCCGTCTCACTGTCACCAGCCTCCAGGTTTGTGCCCAGGGTGGGGGTGGAGGGTTTCTGCTATCTGAGAGATGGGCAGGAGTTGAGGACAGCAGGTCCATGGGGCCAGGGATTTAGCAG... | pathogenic | 128,224 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 128857304, gene FLNC. What disease(s) is it linked to if pathogenic? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5', 'Primary_familial_dilated_cardiomyopathy'] | TGGTGCCTGTGGCCTCCCTCTCGGATGACGCTCGCCGTCTCACTGTCACCAGCCTCCAGGTTTGTGCCCAGGGTGGGGGTGGAGGGTTTCTGCTATCTGAGAGATGGGCAGGAGTTGAGGACAGCAGGTCCATGGGGCCAGGGATTTAGCAGTGACCTTGGAAGGGCCAGTTAGGAGTCCCTTCTCATAAGGCACGAGGCAGGGCCCTTGGGGACGGTGGGCTCCCACCCTGGGGGCTTGCCCGTGCACTCAGGCATGCCACGCCTCGTTCTGCCTTTCTCAGGGTGTGTCTGCCTGTCCTACTGCCACCTGCCATTTCT... | TGGTGCCTGTGGCCTCCCTCTCGGATGACGCTCGCCGTCTCACTGTCACCAGCCTCCAGGTTTGTGCCCAGGGTGGGGGTGGAGGGTTTCTGCTATCTGAGAGATGGGCAGGAGTTGAGGACAGCAGGTCCATGGGGCCAGGGATTTAGCAGTGACCTTGGAAGGGCCAGTTAGGAGTCCCTTCTCATAAGGCACGAGGCAGGGCCCTTGGGGACGGTGGGCTCCCACCCTGGGGGCTTGCCCGTGCACTCAGGCATGCCACGCCTCGTTCTGCCTTTCTCAGGGTGTGTCTGCCTGTCCTACTGCCACCTGCCATTTCT... | pathogenic | 128,238 |
Evaluate if the mutation on chromosome 7 at position 128858065 in FLNC is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | CATCTCCTCCTCCCACTCCTGAACTGGGCTCCCCGATGCAGGCTCCAATCCCTCCCCCAGAGCCCTTCTGTGCTTCTTCTGGTCCTCCCTGTTGGTCCACCTTCTCCAGGAAGCTCTCCCAGGCCAGGCCAGTGAAACTCAGCTTCCTACCTCAGAGCTCTCTGGCACCCCCAGCCCACACAGCCCATCAGGCACTTGCCCTCCGCCCTCAGCCTGCTTCACACAGAGTGGGGCCCTTCCTTCCTCAGCCAGGACAGGGCACATCGTCTGTCATCTCCCACACACCAAGCACAGCTAGGATAGCAGGTGCACACATAGGG... | CATCTCCTCCTCCCACTCCTGAACTGGGCTCCCCGATGCAGGCTCCAATCCCTCCCCCAGAGCCCTTCTGTGCTTCTTCTGGTCCTCCCTGTTGGTCCACCTTCTCCAGGAAGCTCTCCCAGGCCAGGCCAGTGAAACTCAGCTTCCTACCTCAGAGCTCTCTGGCACCCCCAGCCCACACAGCCCATCAGGCACTTGCCCTCCGCCCTCAGCCTGCTTCACACAGAGTGGGGCCCTTCCTTCCTCAGCCAGGACAGGGCACATCGTCTGTCATCTCCCACACACCAAGCACAGCTAGGATAGCAGGTGCACACATAGGG... | pathogenic | 128,248 |
Variant in gene FLNC, located at chromosome 7 position 128858148: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | CCTCCCTGTTGGTCCACCTTCTCCAGGAAGCTCTCCCAGGCCAGGCCAGTGAAACTCAGCTTCCTACCTCAGAGCTCTCTGGCACCCCCAGCCCACACAGCCCATCAGGCACTTGCCCTCCGCCCTCAGCCTGCTTCACACAGAGTGGGGCCCTTCCTTCCTCAGCCAGGACAGGGCACATCGTCTGTCATCTCCCACACACCAAGCACAGCTAGGATAGCAGGTGCACACATAGGGTTGCATACCGGACCCTGGCTCCTCCTGCTCCCAGGCTGGGCTGGCAGGCAGGGGCCAGGCTGGGCATGGGGTGGCAGCAGCCT... | CCTCCCTGTTGGTCCACCTTCTCCAGGAAGCTCTCCCAGGCCAGGCCAGTGAAACTCAGCTTCCTACCTCAGAGCTCTCTGGCACCCCCAGCCCACACAGCCCATCAGGCACTTGCCCTCCGCCCTCAGCCTGCTTCACACAGAGTGGGGCCCTTCCTTCCTCAGCCAGGACAGGGCACATCGTCTGTCATCTCCCACACACCAAGCACAGCTAGGATAGCAGGTGCACACATAGGGTTGCATACCGGACCCTGGCTCCTCCTGCTCCCAGGCTGGGCTGGCAGGCAGGGGCCAGGCTGGGCATGGGGTGGCAGCAGCCT... | pathogenic | 128,251 |
Clinically, how would you classify the variant at chromosome 7, position 128858155, gene FLNC: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Dilated_Cardiomyopathy,_Dominant', 'Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement', 'Hypertrophic_cardiomyopathy_26', 'Myofibrillar_myopathy_5'] | GTTGGTCCACCTTCTCCAGGAAGCTCTCCCAGGCCAGGCCAGTGAAACTCAGCTTCCTACCTCAGAGCTCTCTGGCACCCCCAGCCCACACAGCCCATCAGGCACTTGCCCTCCGCCCTCAGCCTGCTTCACACAGAGTGGGGCCCTTCCTTCCTCAGCCAGGACAGGGCACATCGTCTGTCATCTCCCACACACCAAGCACAGCTAGGATAGCAGGTGCACACATAGGGTTGCATACCGGACCCTGGCTCCTCCTGCTCCCAGGCTGGGCTGGCAGGCAGGGGCCAGGCTGGGCATGGGGTGGCAGCAGCCTTTGGGCT... | GTTGGTCCACCTTCTCCAGGAAGCTCTCCCAGGCCAGGCCAGTGAAACTCAGCTTCCTACCTCAGAGCTCTCTGGCACCCCCAGCCCACACAGCCCATCAGGCACTTGCCCTCCGCCCTCAGCCTGCTTCACACAGAGTGGGGCCCTTCCTTCCTCAGCCAGGACAGGGCACATCGTCTGTCATCTCCCACACACCAAGCACAGCTAGGATAGCAGGTGCACACATAGGGTTGCATACCGGACCCTGGCTCCTCCTGCTCCCAGGCTGGGCTGGCAGGCAGGGGCCAGGCTGGGCATGGGGTGGCAGCAGCCTTTGGGCT... | pathogenic | 128,252 |
Does the variant impacting FLNC on chromosome 7, position 128858226, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTGGCACCCCCAGCCCACACAGCCCATCAGGCACTTGCCCTCCGCCCTCAGCCTGCTTCACACAGAGTGGGGCCCTTCCTTCCTCAGCCAGGACAGGGCACATCGTCTGTCATCTCCCACACACCAAGCACAGCTAGGATAGCAGGTGCACACATAGGGTTGCATACCGGACCCTGGCTCCTCCTGCTCCCAGGCTGGGCTGGCAGGCAGGGGCCAGGCTGGGCATGGGGTGGCAGCAGCCTTTGGGCTGGGCTTACAGTGAGCACCGTGTGGGGCTTCAGAGAAGACTGCTCCAGCCCCGGCCTCCCAGGAGTCTGAGC... | CTGGCACCCCCAGCCCACACAGCCCATCAGGCACTTGCCCTCCGCCCTCAGCCTGCTTCACACAGAGTGGGGCCCTTCCTTCCTCAGCCAGGACAGGGCACATCGTCTGTCATCTCCCACACACCAAGCACAGCTAGGATAGCAGGTGCACACATAGGGTTGCATACCGGACCCTGGCTCCTCCTGCTCCCAGGCTGGGCTGGCAGGCAGGGGCCAGGCTGGGCATGGGGTGGCAGCAGCCTTTGGGCTGGGCTTACAGTGAGCACCGTGTGGGGCTTCAGAGAAGACTGCTCCAGCCCCGGCCTCCCAGGAGTCTGAGC... | benign | 128,258 |
Does the chromosome 7 mutation at position 128858463 within gene FLNC classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AGCCTTTGGGCTGGGCTTACAGTGAGCACCGTGTGGGGCTTCAGAGAAGACTGCTCCAGCCCCGGCCTCCCAGGAGTCTGAGCATCCTCCGTGGCCTTTGCAGGAGACGGGGCTCAAGGTGAACCAGCCAGCGTCCTTTGCCGTGCAGCTGAACGGTGCCCGGGGCGTGATTGATGCCCGGGTGCACACACCCTCGGGGGCTGTGGAGGAGTGCTACGTCTCTGAGCTGGACAGTGGTGAGCTGGCCCTGCCCCTGCCAACTCCCTTCCGGGCTGGGGCCTTCTGGGGAGGGGAAGGATGGAGGCTAAGCCACCAACCCT... | AGCCTTTGGGCTGGGCTTACAGTGAGCACCGTGTGGGGCTTCAGAGAAGACTGCTCCAGCCCCGGCCTCCCAGGAGTCTGAGCATCCTCCGTGGCCTTTGCAGGAGACGGGGCTCAAGGTGAACCAGCCAGCGTCCTTTGCCGTGCAGCTGAACGGTGCCCGGGGCGTGATTGATGCCCGGGTGCACACACCCTCGGGGGCTGTGGAGGAGTGCTACGTCTCTGAGCTGGACAGTGGTGAGCTGGCCCTGCCCCTGCCAACTCCCTTCCGGGCTGGGGCCTTCTGGGGAGGGGAAGGATGGAGGCTAAGCCACCAACCCT... | benign | 128,273 |
Is the genetic mutation found on chromosome 7 at position 128957259, within the gene TNPO3 (transportin 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1F', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant'] | CCTCACACCCCCAAACAGGAACTCCTCAGGATGGCCTCAGAAGGCTGGAGTCTCTCCCTGTCTGGCGGGACACCCTGGTGGCGGTGAAGGCCCCTCTGCCACAACGGAGGTTTCTGATTGTGGGACACAGTCTGGTTTTTGTTTTCTTCCTGTCTTCTAATTAAAAAAGACATTCCTGACAAAAGAGATAAGACAGTCAATAACTGCACCAGAAAATAGAGCATTTAGTAAAATCAACCTTAAGGCAGAGGTTTCTATATTTCCTCAGGTACCTCATTCTGAAGTCTGCCAATAAGAACTCAGAAAAAATAAACAAATAA... | CCTCACACCCCCAAACAGGAACTCCTCAGGATGGCCTCAGAAGGCTGGAGTCTCTCCCTGTCTGGCGGGACACCCTGGTGGCGGTGAAGGCCCCTCTGCCACAACGGAGGTTTCTGATTGTGGGACACAGTCTGGTTTTTGTTTTCTTCCTGTCTTCTAATTAAAAAAGACATTCCTGACAAAAGAGATAAGACAGTCAATAACTGCACCAGAAAATAGAGCATTTAGTAAAATCAACCTTAAGGCAGAGGTTTCTATATTTCCTCAGGTACCTCATTCTGAAGTCTGCCAATAAGAACTCAGAAAAAATAAACAAATAA... | pathogenic | 128,285 |
Gene TNPO3 (transportin 3) variant at chromosome position 128972591 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGAATGAACATGGGTTTCAACAGAGATTAATGCTTAGATTTTTCATGATTTGAAGGCAGAAAACATGGTTAAGAATTAAAGTTAGCAATTTTTAAAATTTTTTTCTCTTCATCTTCTATGTGATGGTATTAATTTTTTTTTAATGTGAAAAATAACTTGTGTTCCTATTTCCTTTTTTAAAAACTAAGTCAGCCTGGCATGGCAGCACACACCATAGTCCCAGCCACTCCAAAGGCGCAGGTAGGGGAACAGCTTGAACCCAGTGTTCTGGGCTAGAGCATGCTATACCAATTGGGTGCCTGTACTAAGTTCAGCATCAA... | GGAATGAACATGGGTTTCAACAGAGATTAATGCTTAGATTTTTCATGATTTGAAGGCAGAAAACATGGTTAAGAATTAAAGTTAGCAATTTTTAAAATTTTTTTCTCTTCATCTTCTATGTGATGGTATTAATTTTTTTTTAATGTGAAAAATAACTTGTGTTCCTATTTCCTTTTTTAAAAACTAAGTCAGCCTGGCATGGCAGCACACACCATAGTCCCAGCCACTCCAAAGGCGCAGGTAGGGGAACAGCTTGAACCCAGTGTTCTGGGCTAGAGCATGCTATACCAATTGGGTGCCTGTACTAAGTTCAGCATCAA... | benign | 128,296 |
Evaluate the clinical significance of the mutation at chromosome 7, position 129189198 in gene SMO: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTTGAGATTTCCTTACTATCAAGAGAATTGACCCTTAATTCTGTGTGTTATTTGAGGCTTCTTACCAATCAGTTTCCCTACTTATCTATGTCCTTATTCTAACTCCTCCTACTCACACTTTAGTCCTGGATTCAAAACCCACCTCCTCCACTTCTATCCACACTGACCTCTGTCCCCTATTCCTATAGCATACTCACGGTACATCTCATTTTGGCAGCTTATTTATCAAGTGATTACTATGTATGCTCAAGTGAACTAGATGTTTTGTGAACACTAAGAGAATGAGATAAGGTCCCTGACCTGAAGGAGGGAACGTTGCT... | TTTGAGATTTCCTTACTATCAAGAGAATTGACCCTTAATTCTGTGTGTTATTTGAGGCTTCTTACCAATCAGTTTCCCTACTTATCTATGTCCTTATTCTAACTCCTCCTACTCACACTTTAGTCCTGGATTCAAAACCCACCTCCTCCACTTCTATCCACACTGACCTCTGTCCCCTATTCCTATAGCATACTCACGGTACATCTCATTTTGGCAGCTTATTTATCAAGTGATTACTATGTATGCTCAAGTGAACTAGATGTTTTGTGAACACTAAGAGAATGAGATAAGGTCCCTGACCTGAAGGAGGGAACGTTGCT... | benign | 128,327 |
Variant chromosome 7, position 130401961, gene CEP41 (centrosomal protein 41): benign or pathogenic? Disease(s)? | benign | CAGCACCTGTAACATACCTCCCTAGTATTTTAAGAATCTAAATATAAGAGATGAAGGTTTTCATATGATGAGGTGATATTCAAAGCTGCAAACCAAACATTATCTTTAAAGGTCAAAAGATCTTACTAGGATGATCTGCAGGCCCTTGCTCCTCTTCCAGATAATATTCTATCTTTTTTAAGTCTTCTGGGGTAAATCTCCATTTATTCTCAGCTGGTAGGGGTGGCCCTTTGGGGCTGGATCGTTTCCGGGCAGACCCAGGAGGAAGGGCCTGCTGGCAAGATGCTGGCAGGGAACCAGTAATCAGTCCTTCCGGGAAT... | CAGCACCTGTAACATACCTCCCTAGTATTTTAAGAATCTAAATATAAGAGATGAAGGTTTTCATATGATGAGGTGATATTCAAAGCTGCAAACCAAACATTATCTTTAAAGGTCAAAAGATCTTACTAGGATGATCTGCAGGCCCTTGCTCCTCTTCCAGATAATATTCTATCTTTTTTAAGTCTTCTGGGGTAAATCTCCATTTATTCTCAGCTGGTAGGGGTGGCCCTTTGGGGCTGGATCGTTTCCGGGCAGACCCAGGAGGAAGGGCCTGCTGGCAAGATGCTGGCAGGGAACCAGTAATCAGTCCTTCCGGGAAT... | benign | 128,491 |
Classify the chromosome 7 variant at position 131556270 affecting gene PODXL as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AATGCACCATAGCTACTGAACAGACCAATCTTGCCGCAACATGCCCCCCACAAGCCTTTTCTGGCCTCAATACATGCAAATCATCATCACCATCATGATCATCATCCTCTCCCCATCCCCCACTTAGCACTTTGCACTTTTCTAAGTGCTTCCCAACAGTGCTGCATACTATAATGCATACAGTGCTCAGATAGGCCAAGTTACTTGCTGGTTAGAGCAGGCACTGGGTTATGGTCATTTTTGTTTGCCACATACCAAACTTCTGCCATGTGCCAAACCCTGTGTTAGGCCAGAAGTGGTGCTTCATGGAAGAGACATGG... | AATGCACCATAGCTACTGAACAGACCAATCTTGCCGCAACATGCCCCCCACAAGCCTTTTCTGGCCTCAATACATGCAAATCATCATCACCATCATGATCATCATCCTCTCCCCATCCCCCACTTAGCACTTTGCACTTTTCTAAGTGCTTCCCAACAGTGCTGCATACTATAATGCATACAGTGCTCAGATAGGCCAAGTTACTTGCTGGTTAGAGCAGGCACTGGGTTATGGTCATTTTTGTTTGCCACATACCAAACTTCTGCCATGTGCCAAACCCTGTGTTAGGCCAGAAGTGGTGCTTCATGGAAGAGACATGG... | benign | 128,536 |
The chromosome 7, position 131556270 genetic variant in gene PODXL: benign or pathogenic? If pathogenic, indicate disease(s). | benign | AATGCACCATAGCTACTGAACAGACCAATCTTGCCGCAACATGCCCCCCACAAGCCTTTTCTGGCCTCAATACATGCAAATCATCATCACCATCATGATCATCATCCTCTCCCCATCCCCCACTTAGCACTTTGCACTTTTCTAAGTGCTTCCCAACAGTGCTGCATACTATAATGCATACAGTGCTCAGATAGGCCAAGTTACTTGCTGGTTAGAGCAGGCACTGGGTTATGGTCATTTTTGTTTGCCACATACCAAACTTCTGCCATGTGCCAAACCCTGTGTTAGGCCAGAAGTGGTGCTTCATGGAAGAGACATGG... | AATGCACCATAGCTACTGAACAGACCAATCTTGCCGCAACATGCCCCCCACAAGCCTTTTCTGGCCTCAATACATGCAAATCATCATCACCATCATGATCATCATCCTCTCCCCATCCCCCACTTAGCACTTTGCACTTTTCTAAGTGCTTCCCAACAGTGCTGCATACTATAATGCATACAGTGCTCAGATAGGCCAAGTTACTTGCTGGTTAGAGCAGGCACTGGGTTATGGTCATTTTTGTTTGCCACATACCAAACTTCTGCCATGTGCCAAACCCTGTGTTAGGCCAGAAGTGGTGCTTCATGGAAGAGACATGG... | benign | 128,537 |
The genetic variant at chromosome 7, position 131556270, affecting gene PODXL: benign or pathogenic? Disease name(s) if pathogenic? | benign | AATGCACCATAGCTACTGAACAGACCAATCTTGCCGCAACATGCCCCCCACAAGCCTTTTCTGGCCTCAATACATGCAAATCATCATCACCATCATGATCATCATCCTCTCCCCATCCCCCACTTAGCACTTTGCACTTTTCTAAGTGCTTCCCAACAGTGCTGCATACTATAATGCATACAGTGCTCAGATAGGCCAAGTTACTTGCTGGTTAGAGCAGGCACTGGGTTATGGTCATTTTTGTTTGCCACATACCAAACTTCTGCCATGTGCCAAACCCTGTGTTAGGCCAGAAGTGGTGCTTCATGGAAGAGACATGG... | AATGCACCATAGCTACTGAACAGACCAATCTTGCCGCAACATGCCCCCCACAAGCCTTTTCTGGCCTCAATACATGCAAATCATCATCACCATCATGATCATCATCCTCTCCCCATCCCCCACTTAGCACTTTGCACTTTTCTAAGTGCTTCCCAACAGTGCTGCATACTATAATGCATACAGTGCTCAGATAGGCCAAGTTACTTGCTGGTTAGAGCAGGCACTGGGTTATGGTCATTTTTGTTTGCCACATACCAAACTTCTGCCATGTGCCAAACCCTGTGTTAGGCCAGAAGTGGTGCTTCATGGAAGAGACATGG... | benign | 128,538 |
Does the genetic variant at chromosome 7, position 138728783, impacting gene ATP6V0A4 (ATPase H+ transporting V0 subunit a4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Renal_tubular_acidosis,_distal,_3,_with_or_without_sensorineural_hearing_loss'] | CAACCAACAGCCGTGCATCCCAAGGGCCAAGGGAACAGGCCTCCACGCCGTCTTCAGGAGCTCCTGTTACCAGTCAGTTTCAGAGCTATCATCCATGAAGGCAGACTAGGAAAACCCTCTCTCCCTCCTTCCCTCTATTTAAGTCATCTGGTGGCGCAAAGGAGAAATCTACCACTTTGAGATCAGCAACTATTTAAAGAGCTTGTGTGGTACAAAGAGCAAGACAAGCTATTATTTTACAGTCCTGGAACTCAGGAGAGCCTGCAGTAACCTGGCTCTTGGCTTATGGACAGATTTAGTTCCTAGAAAAAAAAAATTAC... | CAACCAACAGCCGTGCATCCCAAGGGCCAAGGGAACAGGCCTCCACGCCGTCTTCAGGAGCTCCTGTTACCAGTCAGTTTCAGAGCTATCATCCATGAAGGCAGACTAGGAAAACCCTCTCTCCCTCCTTCCCTCTATTTAAGTCATCTGGTGGCGCAAAGGAGAAATCTACCACTTTGAGATCAGCAACTATTTAAAGAGCTTGTGTGGTACAAAGAGCAAGACAAGCTATTATTTTACAGTCCTGGAACTCAGGAGAGCCTGCAGTAACCTGGCTCTTGGCTTATGGACAGATTTAGTTCCTAGAAAAAAAAAATTAC... | pathogenic | 128,735 |
Variant in ATP6V0A4 (ATPase H+ transporting V0 subunit a4), chromosome 7, position 138734133—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_distal_renal_tubular_acidosis', 'Renal_tubular_acidosis,_distal,_3,_with_or_without_sensorineural_hearing_loss'] | AGCATGAGTTTGATTCGTGCTTTTCCAGAAACTGTCTGCCCATGTGAATACAGGGCTTTGTCTTCTGATTCTATTTCAATTATTATTCTTGTTAATTTAGCTAGAGTTCACTCTTTGAATAAAAGATTATTAAGTATTAAGGTGCCATATAGAACATTCTACAGCTGCAAGCCTAACAATTTGAAGGGTTATTTTTTTTTCTTTCTTCATAGCCAATGTACAAGACAATCTTCAATCCCTCTGCAATTATCCCTTTCATGTATTACCCCAACAAGAATGGTTGGAGCCACACTATAGCCCTCAGTGCTTGCACCTTCATT... | AGCATGAGTTTGATTCGTGCTTTTCCAGAAACTGTCTGCCCATGTGAATACAGGGCTTTGTCTTCTGATTCTATTTCAATTATTATTCTTGTTAATTTAGCTAGAGTTCACTCTTTGAATAAAAGATTATTAAGTATTAAGGTGCCATATAGAACATTCTACAGCTGCAAGCCTAACAATTTGAAGGGTTATTTTTTTTTCTTTCTTCATAGCCAATGTACAAGACAATCTTCAATCCCTCTGCAATTATCCCTTTCATGTATTACCCCAACAAGAATGGTTGGAGCCACACTATAGCCCTCAGTGCTTGCACCTTCATT... | pathogenic | 128,747 |
Is the genetic mutation found on chromosome 7 at position 138747557, within the gene ATP6V0A4 (ATPase H+ transporting V0 subunit a4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Renal_tubular_acidosis,_distal,_3,_with_or_without_sensorineural_hearing_loss'] | AAAACCATATAGGCAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGTTGGAGGCTGCAGTGAGCCAAGATTGCACCACTGCGCTCCAGCCTGTGTCTCAAAAAAAAAAAAAGGCCGGGTGTGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAACATGGGCAGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAATTAGCCAGATGTGGTGGTATGCACGTTAGTCGC... | AAAACCATATAGGCAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGTTGGAGGCTGCAGTGAGCCAAGATTGCACCACTGCGCTCCAGCCTGTGTCTCAAAAAAAAAAAAAGGCCGGGTGTGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAACATGGGCAGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAATTAGCCAGATGTGGTGGTATGCACGTTAGTCGC... | pathogenic | 128,764 |
Variant at chromosome 7, position 138747559, gene ATP6V0A4 (ATPase H+ transporting V0 subunit a4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | AACCATATAGGCAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGTTGGAGGCTGCAGTGAGCCAAGATTGCACCACTGCGCTCCAGCCTGTGTCTCAAAAAAAAAAAAAGGCCGGGTGTGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAACATGGGCAGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAATTAGCCAGATGTGGTGGTATGCACGTTAGTCGCAG... | AACCATATAGGCAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGTTGGAGGCTGCAGTGAGCCAAGATTGCACCACTGCGCTCCAGCCTGTGTCTCAAAAAAAAAAAAAGGCCGGGTGTGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAACATGGGCAGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAATTAGCCAGATGTGGTGGTATGCACGTTAGTCGCAG... | pathogenic | 128,765 |
Variant in ATP6V0A4 (ATPase H+ transporting V0 subunit a4), chromosome 7, position 138749321—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTTGGCCAGAAGTTTTAGGTTAATTTGGCTCTTTTTTACTTTCCTTCTCTCCTTTATTTTTCATAAAAATGTGTTATTTCTATGGTGAAAACCACATACAGATTTTCATATTCTGAAAATGAATCAGGGCAAGACGGTCAATGGACACTCACCTCATTGTCTGTCTTCTGGGAGAGCAAGCGTCTCTCATTCAGAATCATCCAAAGTGCAGCCAGGAGCATCACGGTTCCATGACCACAGTCTCCAAACATCACAGCGAACAGGAAGGGGAAAGTGATGATGGTGTAGGGGGCTGCGGAGGGGAGACACACAACGCCTGA... | TTTGGCCAGAAGTTTTAGGTTAATTTGGCTCTTTTTTACTTTCCTTCTCTCCTTTATTTTTCATAAAAATGTGTTATTTCTATGGTGAAAACCACATACAGATTTTCATATTCTGAAAATGAATCAGGGCAAGACGGTCAATGGACACTCACCTCATTGTCTGTCTTCTGGGAGAGCAAGCGTCTCTCATTCAGAATCATCCAAAGTGCAGCCAGGAGCATCACGGTTCCATGACCACAGTCTCCAAACATCACAGCGAACAGGAAGGGGAAAGTGATGATGGTGTAGGGGGCTGCGGAGGGGAGACACACAACGCCTGA... | benign | 128,772 |
Regarding the variant at chromosome 7 and position 138756467, affecting gene ATP6V0A4 (ATPase H+ transporting V0 subunit a4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Renal_tubular_acidosis,_distal,_3,_with_or_without_sensorineural_hearing_loss', 'Sensorineural_hearing_loss_disorder'] | GCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAATTAAACACAGGTTTTCTGGAAAAGTAAAGTTGTCTGCTAGCCTAAGGGTTTTGAAAGAGGCACATATCTAATTTCTTAACATACTTGTCCAGAATCTAAAACTGAGTTGACTTCTACCACAGCCACATGCAGCTACTAAATTTTATGTATTTTATTTCCTTTTATTTTATTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGAAACCTTTGCCTCTCAGGTTCAAACGATTCTCCTGCCT... | GCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAATTAAACACAGGTTTTCTGGAAAAGTAAAGTTGTCTGCTAGCCTAAGGGTTTTGAAAGAGGCACATATCTAATTTCTTAACATACTTGTCCAGAATCTAAAACTGAGTTGACTTCTACCACAGCCACATGCAGCTACTAAATTTTATGTATTTTATTTCCTTTTATTTTATTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGAAACCTTTGCCTCTCAGGTTCAAACGATTCTCCTGCCT... | pathogenic | 128,787 |
Does the chromosome 7 mutation at position 138756560 within gene ATP6V0A4 (ATPase H+ transporting V0 subunit a4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AGGGTTTTGAAAGAGGCACATATCTAATTTCTTAACATACTTGTCCAGAATCTAAAACTGAGTTGACTTCTACCACAGCCACATGCAGCTACTAAATTTTATGTATTTTATTTCCTTTTATTTTATTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGAAACCTTTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTAGACTACAGGTGACTGCCACCACGCCTGACTAGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGTT... | AGGGTTTTGAAAGAGGCACATATCTAATTTCTTAACATACTTGTCCAGAATCTAAAACTGAGTTGACTTCTACCACAGCCACATGCAGCTACTAAATTTTATGTATTTTATTTCCTTTTATTTTATTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGAAACCTTTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTAGACTACAGGTGACTGCCACCACGCCTGACTAGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGTT... | benign | 128,788 |
Classify the chromosome 7 variant at position 138768849 affecting gene ATP6V0A4 (ATPase H+ transporting V0 subunit a4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Renal_tubular_acidosis,_distal,_3,_with_or_without_sensorineural_hearing_loss'] | AAAACAAAAGCAGCACATGTTACCTGTTTAACAAAATCAAGACAGGCTCTATGCTGGTCAAGTTTCAGTGTAATATCAAAGAAGAATATCCATAATTATTTGAAAAGGCTATTAAAATATTCCTCCCTTTTCCCACTGCTTATCTGTGTAAGGCTGGATTATCTTCCTCTCCTTCAATAAAAACAGCACATCACCAACAGATTTAAAGTAGAAGCAGGTGTGAGAAACCAGCTGTTTCTATTAGCCAAGCACTTTAAAAATTCACAAACAATGCCATCCTTCTCATGAAAGTGTTTTTGTCTTGGAAAAGACAGTCATTT... | AAAACAAAAGCAGCACATGTTACCTGTTTAACAAAATCAAGACAGGCTCTATGCTGGTCAAGTTTCAGTGTAATATCAAAGAAGAATATCCATAATTATTTGAAAAGGCTATTAAAATATTCCTCCCTTTTCCCACTGCTTATCTGTGTAAGGCTGGATTATCTTCCTCTCCTTCAATAAAAACAGCACATCACCAACAGATTTAAAGTAGAAGCAGGTGTGAGAAACCAGCTGTTTCTATTAGCCAAGCACTTTAAAAATTCACAAACAATGCCATCCTTCTCATGAAAGTGTTTTTGTCTTGGAAAAGACAGTCATTT... | pathogenic | 128,801 |
Is chromosome 7, position 138894380, gene KIAA1549 (KIAA1549) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinitis_pigmentosa'] | ATGGCAGTGTATACGTTAGGAAATGTGGCCCATAAAAGACCTAAATACATAACCGTCTACACTGGTTAACTCCCTCTGTAACAACACTCTTCAACAGAACAAAAACATTTCCAAACCTATTGTTGATCTTATTACAGTGAAATTCACACTATGAATCATTTAGTATACCCAGCACTTTTTTTCCAGGTTTCCCCATGCCATTCACCAGTATAACAAGAACAACAAAAGAACCTTAGCAGACTGTGTAAATAATAAACAAAGATAGGCAACAAACATAACATTAATGTATAAAATGCTTTTCATGTACTTGATAGCCATAA... | ATGGCAGTGTATACGTTAGGAAATGTGGCCCATAAAAGACCTAAATACATAACCGTCTACACTGGTTAACTCCCTCTGTAACAACACTCTTCAACAGAACAAAAACATTTCCAAACCTATTGTTGATCTTATTACAGTGAAATTCACACTATGAATCATTTAGTATACCCAGCACTTTTTTTCCAGGTTTCCCCATGCCATTCACCAGTATAACAAGAACAACAAAAGAACCTTAGCAGACTGTGTAAATAATAAACAAAGATAGGCAACAAACATAACATTAATGTATAAAATGCTTTTCATGTACTTGATAGCCATAA... | pathogenic | 128,836 |
The mutation impacting TBXAS1 (thromboxane A synthase 1) on chromosome 7 at position 140017722: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ghosal_hematodiaphyseal_dysplasia'] | GCTCCTCATCTCTTCTCTGTATCCACCCCCGACCTGGTGTTTCCCTCAGATTCACACGGGAGGCAGCTCAGGACTGCGAGGTGCTGGGGCAGCGCATCCCCGCAGGCGCTGTGCTAGAGATGGCCGTGGGTGCCCTGCACCATGACCCTGAGCACTGGCCAAGCCCGGAGACCTTCAACCCTGAAAGGTGAGTACTGCCCCTTTTAAAAAGCTCTGAAGGGATGTGAGTGTGTGGGATAGAAATTTACCAGTGGAGGCAGCAGCCGGGAGGCACAGACTTAGCAAAATTGTCCCCAAATAGTCAAAAGTTATGGCAATTC... | GCTCCTCATCTCTTCTCTGTATCCACCCCCGACCTGGTGTTTCCCTCAGATTCACACGGGAGGCAGCTCAGGACTGCGAGGTGCTGGGGCAGCGCATCCCCGCAGGCGCTGTGCTAGAGATGGCCGTGGGTGCCCTGCACCATGACCCTGAGCACTGGCCAAGCCCGGAGACCTTCAACCCTGAAAGGTGAGTACTGCCCCTTTTAAAAAGCTCTGAAGGGATGTGAGTGTGTGGGATAGAAATTTACCAGTGGAGGCAGCAGCCGGGAGGCACAGACTTAGCAAAATTGTCCCCAAATAGTCAAAAGTTATGGCAATTC... | pathogenic | 128,925 |
Evaluate this variant at chromosome 7, position 140017849, gene TBXAS1 (thromboxane A synthase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GGGTGCCCTGCACCATGACCCTGAGCACTGGCCAAGCCCGGAGACCTTCAACCCTGAAAGGTGAGTACTGCCCCTTTTAAAAAGCTCTGAAGGGATGTGAGTGTGTGGGATAGAAATTTACCAGTGGAGGCAGCAGCCGGGAGGCACAGACTTAGCAAAATTGTCCCCAAATAGTCAAAAGTTATGGCAATTCAGATAGATGTTTGCAAGACATAATTTCCAAAGGAAATAATTATACCATTTTTTAGCCACGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGA... | GGGTGCCCTGCACCATGACCCTGAGCACTGGCCAAGCCCGGAGACCTTCAACCCTGAAAGGTGAGTACTGCCCCTTTTAAAAAGCTCTGAAGGGATGTGAGTGTGTGGGATAGAAATTTACCAGTGGAGGCAGCAGCCGGGAGGCACAGACTTAGCAAAATTGTCCCCAAATAGTCAAAAGTTATGGCAATTCAGATAGATGTTTGCAAGACATAATTTCCAAAGGAAATAATTATACCATTTTTTAGCCACGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGA... | benign | 128,927 |
Considering the variant on chromosome 7, location 140734774, involving gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGAGTGAACAATGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAAT... | AGAGTGAACAATGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAAT... | benign | 128,942 |
Does the variant on chromosome 7 at location 140734776 affecting gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AGTGAACAATGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGT... | AGTGAACAATGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGT... | benign | 128,943 |
Regarding the variant found on chromosome 7 at position 140734779 in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GAACAATGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCC... | GAACAATGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCC... | benign | 128,944 |
Evaluate this variant at chromosome 7, position 140734785, gene BRAF (B-Raf proto-oncogene, serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCCTTTTCA... | TGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCCTTTTCA... | benign | 128,947 |
Assess the variant on chromosome 7, position 140734786, impacting BRAF (B-Raf proto-oncogene, serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCCTTTTCAT... | GAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCCTTTTCAT... | benign | 128,949 |
Variant at chromosome position 140734787, chromosome 7, gene BRAF (B-Raf proto-oncogene, serine/threonine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCCTTTTCATT... | AAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCCTTTTCATT... | benign | 128,950 |
Is the chromosome 7, position 140734788 variant in BRAF (B-Raf proto-oncogene, serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCCTTTTCATTT... | AAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATATACTTAGATATTTTCCAATAGTTGTACTTCTTTATTCCTTAGTATCATTTTTAAAAATACGTGAAATGTTCCTTTTCATTT... | benign | 128,951 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 140739956, gene BRAF (B-Raf proto-oncogene, serine/threonine kinase): what disease(s) if pathogenic? | benign | TTAGAAGTATGGAGCTAAGCATTTTGCCCCTTTTAATATCATTTAAAAAGTGGGCCTAAGGATGTACTTTGCATTATTAATGTCAATAAACATTCTAAGTAAGAACCCGAGCACCATGACGTGAAAAGAGAACATGGGACAGGGTCATGCTGAAGCTGCTCAGCAGCACTTGTCTCTCACCAGGACAGTCTCAACCCAGAGGTTTCCTGACTTAGAGAAACAAATAAAAAAATAAAAAGAAAAAATAAAAACTCTTCCTCAAAGGAACAGTAACTTTGAAACCTGATAAATGAAACTTATATCTACCCAGCCAACCACTT... | TTAGAAGTATGGAGCTAAGCATTTTGCCCCTTTTAATATCATTTAAAAAGTGGGCCTAAGGATGTACTTTGCATTATTAATGTCAATAAACATTCTAAGTAAGAACCCGAGCACCATGACGTGAAAAGAGAACATGGGACAGGGTCATGCTGAAGCTGCTCAGCAGCACTTGTCTCTCACCAGGACAGTCTCAACCCAGAGGTTTCCTGACTTAGAGAAACAAATAAAAAAATAAAAAGAAAAAATAAAAACTCTTCCTCAAAGGAACAGTAACTTTGAAACCTGATAAATGAAACTTATATCTACCCAGCCAACCACTT... | benign | 128,957 |
For chromosome 7, position 140753338, gene BRAF (B-Raf proto-oncogene, serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Childhood_ganglioglioma', 'Neoplasm_of_the_large_intestine', 'Non-small_cell_lung_carcinoma'] | CACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACT... | CACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACT... | pathogenic | 128,975 |
Variant at chromosome position 140781556, chromosome 7, gene BRAF (B-Raf proto-oncogene, serine/threonine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TATACTTACCAGTTTAACATCCCTAATCCAAACATATGAAATCCTCCAATAAGCATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGG... | TATACTTACCAGTTTAACATCCCTAATCCAAACATATGAAATCCTCCAATAAGCATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGG... | benign | 129,026 |
Chromosome 7, position 141615460, gene AGK (acylglycerol kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AGTTTGAAACCAGCGTGACCAACATGGCGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCAGGGCATGGTGGTGGGTGCTTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCATGCCATCGCTCTCCAGCCTGGGTGACAGAGTGAGACTCCACTGCAAAAGAAAAACAAAATAATAATAGTTGTTTATCTGGCATGGTGGAATTATGAGAATTTTTTTTTGTATTTAGGTATTTTTCAGTTTTTACAGAATACTATCCTTCTTCATATT... | AGTTTGAAACCAGCGTGACCAACATGGCGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCAGGGCATGGTGGTGGGTGCTTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCATGCCATCGCTCTCCAGCCTGGGTGACAGAGTGAGACTCCACTGCAAAAGAAAAACAAAATAATAATAGTTGTTTATCTGGCATGGTGGAATTATGAGAATTTTTTTTTGTATTTAGGTATTTTTCAGTTTTTACAGAATACTATCCTTCTTCATATT... | benign | 129,173 |
Evaluate the clinical significance of the mutation at chromosome 7, position 141621725 in gene AGK (acylglycerol kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AAAAAAAAGCAAACAAAAACCCGTCAAATAAATGCAGCAACTGAAACTCTTGGATATCATTGGTGCAAATACGAAATGGTAGCCACTTTAGAAAATGGTTTGGCAGTTTCTTGTAAAATTAAACATATACCTACCATATGAGCAGCAATCACACTTATAGGTACTTATTCAAAAGAAATGAAGATATATGTCCGTACAAAAACCTGTACATGAATATTTATAGTAGCTTGATTCCTAACTGCCAAAAACTGGGAACAATGCCAATGTCCATCAACTGATGAATGGGTAAACAAATTCCAGTACATCCATACAATGGAATA... | AAAAAAAAGCAAACAAAAACCCGTCAAATAAATGCAGCAACTGAAACTCTTGGATATCATTGGTGCAAATACGAAATGGTAGCCACTTTAGAAAATGGTTTGGCAGTTTCTTGTAAAATTAAACATATACCTACCATATGAGCAGCAATCACACTTATAGGTACTTATTCAAAAGAAATGAAGATATATGTCCGTACAAAAACCTGTACATGAATATTTATAGTAGCTTGATTCCTAACTGCCAAAAACTGGGAACAATGCCAATGTCCATCAACTGATGAATGGGTAAACAAATTCCAGTACATCCATACAATGGAATA... | benign | 129,182 |
Does the chromosome 7 mutation at position 141621733 within gene AGK (acylglycerol kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cataract_38', 'Sengers_syndrome'] | GCAAACAAAAACCCGTCAAATAAATGCAGCAACTGAAACTCTTGGATATCATTGGTGCAAATACGAAATGGTAGCCACTTTAGAAAATGGTTTGGCAGTTTCTTGTAAAATTAAACATATACCTACCATATGAGCAGCAATCACACTTATAGGTACTTATTCAAAAGAAATGAAGATATATGTCCGTACAAAAACCTGTACATGAATATTTATAGTAGCTTGATTCCTAACTGCCAAAAACTGGGAACAATGCCAATGTCCATCAACTGATGAATGGGTAAACAAATTCCAGTACATCCATACAATGGAATATGGATAGT... | GCAAACAAAAACCCGTCAAATAAATGCAGCAACTGAAACTCTTGGATATCATTGGTGCAAATACGAAATGGTAGCCACTTTAGAAAATGGTTTGGCAGTTTCTTGTAAAATTAAACATATACCTACCATATGAGCAGCAATCACACTTATAGGTACTTATTCAAAAGAAATGAAGATATATGTCCGTACAAAAACCTGTACATGAATATTTATAGTAGCTTGATTCCTAACTGCCAAAAACTGGGAACAATGCCAATGTCCATCAACTGATGAATGGGTAAACAAATTCCAGTACATCCATACAATGGAATATGGATAGT... | pathogenic | 129,184 |
The mutation impacting AGK (acylglycerol kinase) on chromosome 7 at position 141652792: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cataract_38', 'Sengers_syndrome'] | ATACAGTCATCCCACGGTATCCTTGGGGTATTGGTTCCAGGACCTCCCTCAGATACCAAAATCCACAGGTTGTCAAGCCCCTTCTATATAGTGGCACGGTATTTGCATAGACTTAGGCACGTCCTCCCTATGCACACTAAATCATCTCTAGATTACTTATAATACTCAATATAATGTAAATGCTATGTGGATGGTTGCTGTCCTGTATTCTCTAGGGGATAAGATAGTCTGTACGGATTCAGTACAGGTGCAAAAATATGTATTCTCTATCCTCAGTTGGTTGAATCCACGGGAGTGGGACCCACAGATAGGAAGGGTTA... | ATACAGTCATCCCACGGTATCCTTGGGGTATTGGTTCCAGGACCTCCCTCAGATACCAAAATCCACAGGTTGTCAAGCCCCTTCTATATAGTGGCACGGTATTTGCATAGACTTAGGCACGTCCTCCCTATGCACACTAAATCATCTCTAGATTACTTATAATACTCAATATAATGTAAATGCTATGTGGATGGTTGCTGTCCTGTATTCTCTAGGGGATAAGATAGTCTGTACGGATTCAGTACAGGTGCAAAAATATGTATTCTCTATCCTCAGTTGGTTGAATCCACGGGAGTGGGACCCACAGATAGGAAGGGTTA... | pathogenic | 129,199 |
Considering the genetic mutation at chromosome 7, position 142749451, impacting PRSS1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCATGACAAGGGACAAAATGAAACAACATGTTCAGGGACAACAAAGGAAAAGCCCATTTTATCAATGCTCCAAAACCTGGCTACCTCAGGCTTGGCAAGTTATTCGTGAGCAGAGAAGTTTGTCATCTACATGGCAGTCATGGCCTGGATGGGTCTCGAACTGTGGCATGGTAATGCTCTGAGACTAGGTGCCAGGAGAAAGATAAATTCAATCATCCATTTCTACCAGGAAGAAAAGCACCAGGAAGGAATCAGATGTACAGTTTGTCCTCTAGGGACCTCTGTCTTGATCCTCAATAAATCTCCTTTTAGATACCTCC... | CCATGACAAGGGACAAAATGAAACAACATGTTCAGGGACAACAAAGGAAAAGCCCATTTTATCAATGCTCCAAAACCTGGCTACCTCAGGCTTGGCAAGTTATTCGTGAGCAGAGAAGTTTGTCATCTACATGGCAGTCATGGCCTGGATGGGTCTCGAACTGTGGCATGGTAATGCTCTGAGACTAGGTGCCAGGAGAAAGATAAATTCAATCATCCATTTCTACCAGGAAGAAAAGCACCAGGAAGGAATCAGATGTACAGTTTGTCCTCTAGGGACCTCTGTCTTGATCCTCAATAAATCTCCTTTTAGATACCTCC... | benign | 129,219 |
A mutation at chromosome position 142749557 on chromosome 7 in gene PRSS1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGAGCAGAGAAGTTTGTCATCTACATGGCAGTCATGGCCTGGATGGGTCTCGAACTGTGGCATGGTAATGCTCTGAGACTAGGTGCCAGGAGAAAGATAAATTCAATCATCCATTTCTACCAGGAAGAAAAGCACCAGGAAGGAATCAGATGTACAGTTTGTCCTCTAGGGACCTCTGTCTTGATCCTCAATAAATCTCCTTTTAGATACCTCCTCTTAGATGAAATTCCCACACTTCACAATGCTCTCCATGGCTTCTGTTGGCCTTATGGTCAGCTCTGCCAAGATCTGTATTCTTGGGCAAGACAGAATCCTTCTGA... | TGAGCAGAGAAGTTTGTCATCTACATGGCAGTCATGGCCTGGATGGGTCTCGAACTGTGGCATGGTAATGCTCTGAGACTAGGTGCCAGGAGAAAGATAAATTCAATCATCCATTTCTACCAGGAAGAAAAGCACCAGGAAGGAATCAGATGTACAGTTTGTCCTCTAGGGACCTCTGTCTTGATCCTCAATAAATCTCCTTTTAGATACCTCCTCTTAGATGAAATTCCCACACTTCACAATGCTCTCCATGGCTTCTGTTGGCCTTATGGTCAGCTCTGCCAAGATCTGTATTCTTGGGCAAGACAGAATCCTTCTGA... | benign | 129,224 |
A genetic alteration at chromosome 7, position 143316239, in gene CLCN1 (chloride voltage-gated channel 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | ACATGACATTATTCATCTGTTAGTGGACACTTAGGTTGTTTCCATTTCTAGGCTATTGTGAATAATGCTGTAATGAACATGGGAGTGCAGATACCTCTTTGAGATACTGATTTCCTTTCCCTTGGATGTATGGGAGTTGCTGAGTCATATGGCAGTTCTGTTTTTACCTTTTGAGGAACTTTTATACTGTTTTTCATAATGACTATACCAGTTTACATTCCCACCAACAGTGCACAAGGGTTCCCTTTTCTCTGCATTCTCACTAACATTTATCTCATCTTTTTATTTAATTTTTTTTTGAGACATAATCTCACTCTGTA... | ACATGACATTATTCATCTGTTAGTGGACACTTAGGTTGTTTCCATTTCTAGGCTATTGTGAATAATGCTGTAATGAACATGGGAGTGCAGATACCTCTTTGAGATACTGATTTCCTTTCCCTTGGATGTATGGGAGTTGCTGAGTCATATGGCAGTTCTGTTTTTACCTTTTGAGGAACTTTTATACTGTTTTTCATAATGACTATACCAGTTTACATTCCCACCAACAGTGCACAAGGGTTCCCTTTTCTCTGCATTCTCACTAACATTTATCTCATCTTTTTATTTAATTTTTTTTTGAGACATAATCTCACTCTGTA... | pathogenic | 129,348 |
Determine whether the variant at chromosome 7, position 143316268, in gene CLCN1 (chloride voltage-gated channel 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | CTTAGGTTGTTTCCATTTCTAGGCTATTGTGAATAATGCTGTAATGAACATGGGAGTGCAGATACCTCTTTGAGATACTGATTTCCTTTCCCTTGGATGTATGGGAGTTGCTGAGTCATATGGCAGTTCTGTTTTTACCTTTTGAGGAACTTTTATACTGTTTTTCATAATGACTATACCAGTTTACATTCCCACCAACAGTGCACAAGGGTTCCCTTTTCTCTGCATTCTCACTAACATTTATCTCATCTTTTTATTTAATTTTTTTTTGAGACATAATCTCACTCTGTAGACCAGGATGGATTGCAGTGGTGCCTTCC... | CTTAGGTTGTTTCCATTTCTAGGCTATTGTGAATAATGCTGTAATGAACATGGGAGTGCAGATACCTCTTTGAGATACTGATTTCCTTTCCCTTGGATGTATGGGAGTTGCTGAGTCATATGGCAGTTCTGTTTTTACCTTTTGAGGAACTTTTATACTGTTTTTCATAATGACTATACCAGTTTACATTCCCACCAACAGTGCACAAGGGTTCCCTTTTCTCTGCATTCTCACTAACATTTATCTCATCTTTTTATTTAATTTTTTTTTGAGACATAATCTCACTCTGTAGACCAGGATGGATTGCAGTGGTGCCTTCC... | pathogenic | 129,350 |
Variant in gene CLCN1 (chloride voltage-gated channel 1), located at chromosome 7 position 143316329: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form', 'Inborn_genetic_diseases'] | ATACCTCTTTGAGATACTGATTTCCTTTCCCTTGGATGTATGGGAGTTGCTGAGTCATATGGCAGTTCTGTTTTTACCTTTTGAGGAACTTTTATACTGTTTTTCATAATGACTATACCAGTTTACATTCCCACCAACAGTGCACAAGGGTTCCCTTTTCTCTGCATTCTCACTAACATTTATCTCATCTTTTTATTTAATTTTTTTTTGAGACATAATCTCACTCTGTAGACCAGGATGGATTGCAGTGGTGCCTTCCCAGCTCACTGCAGCCTCCACCTCCCGGGCTTCAGTGATCCTCCTGTCTCAGCCTCCCAAGT... | ATACCTCTTTGAGATACTGATTTCCTTTCCCTTGGATGTATGGGAGTTGCTGAGTCATATGGCAGTTCTGTTTTTACCTTTTGAGGAACTTTTATACTGTTTTTCATAATGACTATACCAGTTTACATTCCCACCAACAGTGCACAAGGGTTCCCTTTTCTCTGCATTCTCACTAACATTTATCTCATCTTTTTATTTAATTTTTTTTTGAGACATAATCTCACTCTGTAGACCAGGATGGATTGCAGTGGTGCCTTCCCAGCTCACTGCAGCCTCCACCTCCCGGGCTTCAGTGATCCTCCTGTCTCAGCCTCCCAAGT... | pathogenic | 129,352 |
Is chromosome 7, position 143320739, gene CLCN1 (chloride voltage-gated channel 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | CCTTCCTTGTCTCCACTGGCCTGGGGCCTTGAGGAGCTGAGACAGCCTCAGCTGTCTGACTTCCACTGGGAAGTATGTTCTCTCTCTGGGTCCCACGCAGGGTTTGGAAGGAAACACTGCCTCCCTCGGTCACTGACCCAGAAGACAAACAGCCATGAGCAGGGCAATTCATGTGCGTGCTTGTTCAGGACTGCGGTGTAAAATGCTGCTCATATTGTGAAATCAGATCTCTTCTACTCAGGCTCTCCCAGAATCCAGCAACATGGCCTGGCCTGACCCTGGCCCCAGAGGACAGTTAGTGTAGTGGGAGTGGGGCAGGC... | CCTTCCTTGTCTCCACTGGCCTGGGGCCTTGAGGAGCTGAGACAGCCTCAGCTGTCTGACTTCCACTGGGAAGTATGTTCTCTCTCTGGGTCCCACGCAGGGTTTGGAAGGAAACACTGCCTCCCTCGGTCACTGACCCAGAAGACAAACAGCCATGAGCAGGGCAATTCATGTGCGTGCTTGTTCAGGACTGCGGTGTAAAATGCTGCTCATATTGTGAAATCAGATCTCTTCTACTCAGGCTCTCCCAGAATCCAGCAACATGGCCTGGCCTGACCCTGGCCCCAGAGGACAGTTAGTGTAGTGGGAGTGGGGCAGGC... | pathogenic | 129,367 |
Does the variant on chromosome 7 at location 143320773 affecting gene CLCN1 (chloride voltage-gated channel 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | AGCTGAGACAGCCTCAGCTGTCTGACTTCCACTGGGAAGTATGTTCTCTCTCTGGGTCCCACGCAGGGTTTGGAAGGAAACACTGCCTCCCTCGGTCACTGACCCAGAAGACAAACAGCCATGAGCAGGGCAATTCATGTGCGTGCTTGTTCAGGACTGCGGTGTAAAATGCTGCTCATATTGTGAAATCAGATCTCTTCTACTCAGGCTCTCCCAGAATCCAGCAACATGGCCTGGCCTGACCCTGGCCCCAGAGGACAGTTAGTGTAGTGGGAGTGGGGCAGGCTAAAAGTGGTTGGAGCTCTTGTATACCCCACACA... | AGCTGAGACAGCCTCAGCTGTCTGACTTCCACTGGGAAGTATGTTCTCTCTCTGGGTCCCACGCAGGGTTTGGAAGGAAACACTGCCTCCCTCGGTCACTGACCCAGAAGACAAACAGCCATGAGCAGGGCAATTCATGTGCGTGCTTGTTCAGGACTGCGGTGTAAAATGCTGCTCATATTGTGAAATCAGATCTCTTCTACTCAGGCTCTCCCAGAATCCAGCAACATGGCCTGGCCTGACCCTGGCCCCAGAGGACAGTTAGTGTAGTGGGAGTGGGGCAGGCTAAAAGTGGTTGGAGCTCTTGTATACCCCACACA... | pathogenic | 129,369 |
Clinical significance of chromosome 7, position 143321373, gene CLCN1 (chloride voltage-gated channel 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | GTCCTCACCCTGTTCATGTTAGGAGAAAAGTCAATGCAAGTGGTCTGGGGAAATTGTGGGACATACAGAAAGCGCAGTGACACAAAACACCTGATTGATATGGCCACCTGGGTTCAGCACAGTTCTGTACCTCTGCTTCAAAGCAAAAACTGGCCTCCTTGATAAAGGCTACCCTGGATCAAGGTGAGTACAGGTTGGAGAATGGGTGTAGAGAAGGTAGGATGAATGAACAAGGGAAAGGGTGGGAAGTGTGGGAATGGAGGGTGGAGAGTAGAGGGCAGGGATGACCACAAAGTCACCCTGCATGCAGTCAACACCCA... | GTCCTCACCCTGTTCATGTTAGGAGAAAAGTCAATGCAAGTGGTCTGGGGAAATTGTGGGACATACAGAAAGCGCAGTGACACAAAACACCTGATTGATATGGCCACCTGGGTTCAGCACAGTTCTGTACCTCTGCTTCAAAGCAAAAACTGGCCTCCTTGATAAAGGCTACCCTGGATCAAGGTGAGTACAGGTTGGAGAATGGGTGTAGAGAAGGTAGGATGAATGAACAAGGGAAAGGGTGGGAAGTGTGGGAATGGAGGGTGGAGAGTAGAGGGCAGGGATGACCACAAAGTCACCCTGCATGCAGTCAACACCCA... | pathogenic | 129,374 |
Clinically, how would you classify the variant at chromosome 7, position 143323307, gene CLCN1 (chloride voltage-gated channel 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | CACACAGAAGGAGCACGGCCTGAGAACATGCCGGGTACACGTCCTGGTGCCGTGGACACGGCTGCTCAGCCATGTTCTGCCTAACCCCAGGCATGTGTCTCCGCAGCCTACAAGTGGTCCTACGCGCAGATGCAGCCCAGCCTTCCTCTGCAGTTCCTGGTCTGGGTCACCTTCCCACTAGTCCTCATCCTCTTCAGCGCCCTCTTCTGCCACCTCATCTCTCCCCAGGCTGTTGGTGAGAACTTGCCACCAGACTCGGCCTGAGCTGGGTGGCCTGAGAGGGGCCCTGTCTGTCTCCCCCATCATCCAGCCCCACCCAC... | CACACAGAAGGAGCACGGCCTGAGAACATGCCGGGTACACGTCCTGGTGCCGTGGACACGGCTGCTCAGCCATGTTCTGCCTAACCCCAGGCATGTGTCTCCGCAGCCTACAAGTGGTCCTACGCGCAGATGCAGCCCAGCCTTCCTCTGCAGTTCCTGGTCTGGGTCACCTTCCCACTAGTCCTCATCCTCTTCAGCGCCCTCTTCTGCCACCTCATCTCTCCCCAGGCTGTTGGTGAGAACTTGCCACCAGACTCGGCCTGAGCTGGGTGGCCTGAGAGGGGCCCTGTCTGTCTCCCCCATCATCCAGCCCCACCCAC... | pathogenic | 129,390 |
Evaluate this variant at chromosome 7, position 143323310, gene CLCN1 (chloride voltage-gated channel 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | ACAGAAGGAGCACGGCCTGAGAACATGCCGGGTACACGTCCTGGTGCCGTGGACACGGCTGCTCAGCCATGTTCTGCCTAACCCCAGGCATGTGTCTCCGCAGCCTACAAGTGGTCCTACGCGCAGATGCAGCCCAGCCTTCCTCTGCAGTTCCTGGTCTGGGTCACCTTCCCACTAGTCCTCATCCTCTTCAGCGCCCTCTTCTGCCACCTCATCTCTCCCCAGGCTGTTGGTGAGAACTTGCCACCAGACTCGGCCTGAGCTGGGTGGCCTGAGAGGGGCCCTGTCTGTCTCCCCCATCATCCAGCCCCACCCACAGC... | ACAGAAGGAGCACGGCCTGAGAACATGCCGGGTACACGTCCTGGTGCCGTGGACACGGCTGCTCAGCCATGTTCTGCCTAACCCCAGGCATGTGTCTCCGCAGCCTACAAGTGGTCCTACGCGCAGATGCAGCCCAGCCTTCCTCTGCAGTTCCTGGTCTGGGTCACCTTCCCACTAGTCCTCATCCTCTTCAGCGCCCTCTTCTGCCACCTCATCTCTCCCCAGGCTGTTGGTGAGAACTTGCCACCAGACTCGGCCTGAGCTGGGTGGCCTGAGAGGGGCCCTGTCTGTCTCCCCCATCATCCAGCCCCACCCACAGC... | pathogenic | 129,393 |
Regarding the variant at chromosome 7 and position 143330816, affecting gene CLCN1 (chloride voltage-gated channel 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | GTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGC... | GTGATTGGCCAAGCAAGCTCTGTCTGCCCCACATTGCCCATTGCCTTTCTCTGTTTCCTGAAATTCTGTTCTCTTCTGTTCTCTTCTTTCCTCATCCTGTCCTTTCCTCTCCTCCCCTGCTCATCCAGAGAATAGACATTCAGCCCTGATTATTCACCAGGCACTGTACTAGGTGCTGGTTTTCAAGGAATTTTCTTTCTTTCTTTTTTTTTTTTTTCAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGAGGTGCGATCTCGGCTCACTGCAACCTGCGTCTCCCGGGTTCAAGCAATTCTCCTGCCTTAGC... | pathogenic | 129,414 |
Classify the chromosome 7 variant at position 143331293 affecting gene CLCN1 (chloride voltage-gated channel 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | CGTGAGCCACCACGCCTGGCCTCCCAGGAATTTTCAATCCTAGGGGATCTCTGAAATGTAAAGAAATATCTGGATCTGAAAGTGGTAGTGCTATAATAACCCAAAATTCTGAGAGCGCAGGCTGAAGGACGGATGGTTTCGACCTGAAGAGGAGGATTGGGGATGGCTTCCCAGGGAAGGGGACTTGGGACTGACCACTGGAAATCCTCTGCCAAACTGTAGCAGCTGCTGCATTTGGGAGTAACCATTAGGCCACCCTCCCCCTGGTGCAAATGACCTGATGTAACTAGTCGACTGTCACCTGTAGAAGAGAAGGTGGT... | CGTGAGCCACCACGCCTGGCCTCCCAGGAATTTTCAATCCTAGGGGATCTCTGAAATGTAAAGAAATATCTGGATCTGAAAGTGGTAGTGCTATAATAACCCAAAATTCTGAGAGCGCAGGCTGAAGGACGGATGGTTTCGACCTGAAGAGGAGGATTGGGGATGGCTTCCCAGGGAAGGGGACTTGGGACTGACCACTGGAAATCCTCTGCCAAACTGTAGCAGCTGCTGCATTTGGGAGTAACCATTAGGCCACCCTCCCCCTGGTGCAAATGACCTGATGTAACTAGTCGACTGTCACCTGTAGAAGAGAAGGTGGT... | pathogenic | 129,428 |
Assess the variant on chromosome 7, position 143332729, impacting CLCN1 (chloride voltage-gated channel 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | CAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCAGGAGTGCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGAACAAGGATGCTGGTAACCAAGGAGGCCTTGGGTGGAGGCCATGTGAAATAGAAAAGCTGGGAATGGGGTGCAGAGGAAAACTCTGTGGGGCAGTTCAGAAAAGGAATAATGGGCG... | CAGCAAAAGCTCCTTAGGTCCAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCAGGAGTGCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGAACAAGGATGCTGGTAACCAAGGAGGCCTTGGGTGGAGGCCATGTGAAATAGAAAAGCTGGGAATGGGGTGCAGAGGAAAACTCTGTGGGGCAGTTCAGAAAAGGAATAATGGGCG... | pathogenic | 129,440 |
The chromosome 7, position 143332749 genetic variant in gene CLCN1 (chloride voltage-gated channel 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | CAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCAGGAGTGCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGAACAAGGATGCTGGTAACCAAGGAGGCCTTGGGTGGAGGCCATGTGAAATAGAAAAGCTGGGAATGGGGTGCAGAGGAAAACTCTGTGGGGCAGTTCAGAAAAGGAATAATGGGCGGCATCATTTGTGGGGTGGGA... | CAAGCAGTGGGGAGTGTGGGGGAGCACTTTCACTGCTGGCTGCCCCCAACCACACTTCTGTGCCCCTGCAGGAGTGCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGAACAAGGATGCTGGTAACCAAGGAGGCCTTGGGTGGAGGCCATGTGAAATAGAAAAGCTGGGAATGGGGTGCAGAGGAAAACTCTGTGGGGCAGTTCAGAAAAGGAATAATGGGCGGCATCATTTGTGGGGTGGGA... | pathogenic | 129,443 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 143332824, gene CLCN1 (chloride voltage-gated channel 1): what disease(s) if pathogenic? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | GCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGAACAAGGATGCTGGTAACCAAGGAGGCCTTGGGTGGAGGCCATGTGAAATAGAAAAGCTGGGAATGGGGTGCAGAGGAAAACTCTGTGGGGCAGTTCAGAAAAGGAATAATGGGCGGCATCATTTGTGGGGTGGGACCAAGGCCCAAGGGTGTATGACAAAGATATAGGTCATGGAGTGGGAGAGTATATCCATGGAGGAGTGTGCGTAGA... | GCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGAACAAGGATGCTGGTAACCAAGGAGGCCTTGGGTGGAGGCCATGTGAAATAGAAAAGCTGGGAATGGGGTGCAGAGGAAAACTCTGTGGGGCAGTTCAGAAAAGGAATAATGGGCGGCATCATTTGTGGGGTGGGACCAAGGCCCAAGGGTGTATGACAAAGATATAGGTCATGGAGTGGGAGAGTATATCCATGGAGGAGTGTGCGTAGA... | pathogenic | 129,447 |
Assess the variant on chromosome 7, position 143339286, impacting CLCN1 (chloride voltage-gated channel 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_dominant_intermediate_Charcot-Marie-Tooth_disease', 'Batten-Turner_congenital_myopathy', 'Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form', 'Smith-Lemli-Opitz_syndrome', 'Tip-toe_gait'] | TACTCACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTA... | TACTCACCTAGCTACACCCTTCCTACATTTACTGAGCACTGTGCCAGTGCAGAGAGAAGGCAGAAAGGACAAGATGCACTCTCTGTCCTCAGGGGATTCTCAGTCTCTATTCTCTTCATTTTGCCCATTCATTTTTATAGTTCTCAACTGTTTTTGAATAGTCATATTCTGACATGAAGGAGTGTGTGTTTTGCCTCATCTCAGATCTTCTGGGATGAGACTTTCTTAGAGTCTTTGTCACTGTCTCCTGAGGTCAGCCCTGGATGAGGGGAGTTCTTTCTTTCTACGGTTCTGAAAATTAAGAAATATATTTCTCGTTA... | pathogenic | 129,453 |
Mutation found at chromosome 7 position 143341957, gene CLCN1 (chloride voltage-gated channel 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | TTCCCAAGAATCATGGAACCAACAATGCAGGTGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGA... | TTCCCAAGAATCATGGAACCAACAATGCAGGTGATTGGCTCAGGTTGCAGGTGATTGACTCAACCTGAGACGTGTTGATATTGATGGGTAGTTAAGAGCACAGGACTAAGAGCTAAGAAACATGGCTCTAGACTTCTCCTGCCACTTGTTACCAGTCACCATGAAGCAAGATAGCTGCTTCTGAGCCCTAGTTTCTTTATTCTAAAATGACTTCTGAGATAGAGCTATGCCTAACACCAATAGAATCCTGGGATTATTATGCTTCCTCCCTTCCTCAGCAAAATCCCATAGCATCTAAGGCCATGCCTTCCCTACATAGA... | pathogenic | 129,471 |
Benign or pathogenic: chromosome 7, position 143342446, gene CLCN1 (chloride voltage-gated channel 1) variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | TTGTTTATGTTCTGAAGTATGTTATATGCAATATCCAATAGTGTCATTCCTCCCTATATTTCCCTTCTGTGATGCTTTCTTGGTTGCTCTCTCCCTTTCTTTCTCCCTTCCTTCCTTCTTTTCTCTCTTCTCCTTCTCCTTCTCTTCTCTTCTTTTATTTCCAGAGTCTTGCTCTGTTGCCCAGGAGTGCAGTGGCGCAATCTGGGTTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCATCATGTCTGGCTAATTTTTGTAATTTTAGTAG... | TTGTTTATGTTCTGAAGTATGTTATATGCAATATCCAATAGTGTCATTCCTCCCTATATTTCCCTTCTGTGATGCTTTCTTGGTTGCTCTCTCCCTTTCTTTCTCCCTTCCTTCCTTCTTTTCTCTCTTCTCCTTCTCCTTCTCTTCTCTTCTTTTATTTCCAGAGTCTTGCTCTGTTGCCCAGGAGTGCAGTGGCGCAATCTGGGTTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCATCATGTCTGGCTAATTTTTGTAATTTTAGTAG... | pathogenic | 129,490 |
Regarding the variant at chromosome 7 and position 143342482, affecting gene CLCN1 (chloride voltage-gated channel 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | AATAGTGTCATTCCTCCCTATATTTCCCTTCTGTGATGCTTTCTTGGTTGCTCTCTCCCTTTCTTTCTCCCTTCCTTCCTTCTTTTCTCTCTTCTCCTTCTCCTTCTCTTCTCTTCTTTTATTTCCAGAGTCTTGCTCTGTTGCCCAGGAGTGCAGTGGCGCAATCTGGGTTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCATCATGTCTGGCTAATTTTTGTAATTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCA... | AATAGTGTCATTCCTCCCTATATTTCCCTTCTGTGATGCTTTCTTGGTTGCTCTCTCCCTTTCTTTCTCCCTTCCTTCCTTCTTTTCTCTCTTCTCCTTCTCCTTCTCTTCTCTTCTTTTATTTCCAGAGTCTTGCTCTGTTGCCCAGGAGTGCAGTGGCGCAATCTGGGTTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCATCATGTCTGGCTAATTTTTGTAATTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCA... | pathogenic | 129,493 |
Clinical classification of chromosome 7, position 143345554, gene CLCN1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | AAGCACCTCTAGTATTGGTTTTGTGTTACAAATATATTTTAGTGACTAGCTGAATTCACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCT... | AAGCACCTCTAGTATTGGTTTTGTGTTACAAATATATTTTAGTGACTAGCTGAATTCACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCT... | pathogenic | 129,497 |
Clinical significance of chromosome 7, position 143345602, gene CLCN1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | GCTGAATTCACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACT... | GCTGAATTCACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACT... | pathogenic | 129,499 |
Classify the chromosome 7 variant at position 143345610 affecting gene CLCN1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | CACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACTCTGTTGCC... | CACAAATAGGGAATCCATGAATAATGACAATTAATGTAAATCCCATAGCTTCTTACGTTGTTCCATTTTGATGCTTACATAAGTCATGCTTGTTCTTTAATGCCCAACTTATGGAAGAGTTGGAACTGTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACTCTGTTGCC... | pathogenic | 129,500 |
Mutation found at chromosome 7 position 143345737, gene CLCN1 (chloride voltage-gated channel 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | GTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACTCTGTTGCCCAGGCAGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGTCTCCTGGGTTCTAAGTGATTCTCCTGCCTTAGGCTCCTGAGTAGCTGGGATTACAGGAATGCACCACCATGCCCAGCTAAT... | GTTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCCTTCTTTTTCTTTCTTTCTCTTTCTCTCTCTCTCCCTCCCTCTTTCCCTCTCTCTCTCTTTCTCTCTCCCTCCCTCTTTCCCTCTCTCTTTCTCTCTCTCTCTTTTCTTTTCTTTTCTCTTCTTTCTTTTCGACAGAGCCTCACTCTGTTGCCCAGGCAGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGTCTCCTGGGTTCTAAGTGATTCTCCTGCCTTAGGCTCCTGAGTAGCTGGGATTACAGGAATGCACCACCATGCCCAGCTAAT... | pathogenic | 129,506 |
Assess the variant on chromosome 7, position 143346162, impacting CLCN1 (chloride voltage-gated channel 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | ACAGGCATGAGCCACTGTGCCCGGCTGGAACTGTTTCACATGGAGGAGTGAATGGTTGTTAGTAAACGATAATTTCACATTTCTCTGCCTTCACCATCATTTGACACTTCATCCTGCTTTGTATGATTTCTTATTGTGGTTTATATATCTATATCTTGTCTTCCTAACTAGGTGGGCATTCCTTGAGAATAGAGGCTATGAATTCTATATACCCAGAGTGCCTTGTTATAGGTATCTACTAGATATTAAATGAATAATTTCCTAGTGTTTGAATTAGTGTAATAAAGAAAAATCATGTAGGGCCATTTGGAGTCATTAAG... | ACAGGCATGAGCCACTGTGCCCGGCTGGAACTGTTTCACATGGAGGAGTGAATGGTTGTTAGTAAACGATAATTTCACATTTCTCTGCCTTCACCATCATTTGACACTTCATCCTGCTTTGTATGATTTCTTATTGTGGTTTATATATCTATATCTTGTCTTCCTAACTAGGTGGGCATTCCTTGAGAATAGAGGCTATGAATTCTATATACCCAGAGTGCCTTGTTATAGGTATCTACTAGATATTAAATGAATAATTTCCTAGTGTTTGAATTAGTGTAATAAAGAAAAATCATGTAGGGCCATTTGGAGTCATTAAG... | pathogenic | 129,514 |
Evaluate if the mutation on chromosome 7 at position 143350576 in CLCN1 (chloride voltage-gated channel 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | TCCCATGTGACCCACTGAGACATTTTAGAGGGATAAGATCTAACAGGAGTTGAAATTCAGGATGTTTTGAACACAATTTTCAGACCAGATGATACCCTTGACAATATCAAGATGTTGATATTGACCAAAAAAACAGTATGGGGGCAGTATGGGAATATTGAAAGATTCAATTATATGTTGCCAGAAGTCCCTACTAGGATTTGTTTAATTCTGCATACTCTGGAGTACACACAGAGCTCTGTTTCTAACCGGTACCGAGCTTATTCAAGTAGTGGAACACACCAGCCTCAACAGCAACGTCCTGCATCCCTTGCGCAAAA... | TCCCATGTGACCCACTGAGACATTTTAGAGGGATAAGATCTAACAGGAGTTGAAATTCAGGATGTTTTGAACACAATTTTCAGACCAGATGATACCCTTGACAATATCAAGATGTTGATATTGACCAAAAAAACAGTATGGGGGCAGTATGGGAATATTGAAAGATTCAATTATATGTTGCCAGAAGTCCCTACTAGGATTTGTTTAATTCTGCATACTCTGGAGTACACACAGAGCTCTGTTTCTAACCGGTACCGAGCTTATTCAAGTAGTGGAACACACCAGCCTCAACAGCAACGTCCTGCATCCCTTGCGCAAAA... | pathogenic | 129,538 |
The mutation in gene CLCN1 (chloride voltage-gated channel 1) at chromosome 7, position 143351825—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_myotonia,_autosomal_dominant_form', 'Congenital_myotonia,_autosomal_recessive_form'] | TCAAGACAAATGCAGAGGTAAGACAGATGCCAATACAGCAGGAAGTATGGCCAATGTCATTTCTGAAAAGGTGAGACCAGCTAATACTATGGGAATAAAAAAGGGGAGAAGCACATCTGATTGGGAGAGTCAGGAAATACGTACACTGCAGGGAGAGGGTAGGGCAGGTAAAGGAACTCCAGATGGTCAGAATAGCAAAGACAAAGGGGAAGGCATGTTTGAAGAGCAGAAAGCAGTCTGGTTTGATTGGAGCCCCACGTCTTATAGTAGTAGTGGAAAATAGATGGGAAAGATAGGTTGGGAATAACAAATGTTTGGGA... | TCAAGACAAATGCAGAGGTAAGACAGATGCCAATACAGCAGGAAGTATGGCCAATGTCATTTCTGAAAAGGTGAGACCAGCTAATACTATGGGAATAAAAAAGGGGAGAAGCACATCTGATTGGGAGAGTCAGGAAATACGTACACTGCAGGGAGAGGGTAGGGCAGGTAAAGGAACTCCAGATGGTCAGAATAGCAAAGACAAAGGGGAAGGCATGTTTGAAGAGCAGAAAGCAGTCTGGTTTGATTGGAGCCCCACGTCTTATAGTAGTAGTGGAAAATAGATGGGAAAGATAGGTTGGGAATAACAAATGTTTGGGA... | pathogenic | 129,548 |
Located at chromosome 7 position 144453675, the variant affecting gene TPK1 (thiamin pyrophosphokinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATGGATGTGGAACCCACTGATACAGAGGGCTGACTGTAATAAAACCAGCACCTAGCGCTGTATGAAAGGTTAGCACTCCCCTTGACAAGAATGGAAGAGGCCCTCGGGCCTGACAACACACATATGGTTAAAACTAGCACCTAACTCCTCAGTAGCCTGGCAGGAACTGGGAATGGTGGCCTATGTTTTAAGAGAACCCCTTCTGTGGGCCCCCAATGGCTACAGCCTGATACTCAGGTGATGGTGTGAGATAAGCCTCAGTGCTTTTTTTTATCCCCTGTCCCCCAATATTTACTAAGCTTCAGGAAACTATATTCTTT... | ATGGATGTGGAACCCACTGATACAGAGGGCTGACTGTAATAAAACCAGCACCTAGCGCTGTATGAAAGGTTAGCACTCCCCTTGACAAGAATGGAAGAGGCCCTCGGGCCTGACAACACACATATGGTTAAAACTAGCACCTAACTCCTCAGTAGCCTGGCAGGAACTGGGAATGGTGGCCTATGTTTTAAGAGAACCCCTTCTGTGGGCCCCCAATGGCTACAGCCTGATACTCAGGTGATGGTGTGAGATAAGCCTCAGTGCTTTTTTTTATCCCCTGTCCCCCAATATTTACTAAGCTTCAGGAAACTATATTCTTT... | benign | 129,599 |
Clinical significance of chromosome 7, position 146774249, gene CNTNAP2 (contactin associated protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCAAGCAGGATGTGGATACAGAGACTGATGGCAACAAAATGCTGGGTGAACTAGCAAACCCTGTCCTCAGTGGCAAAGGTCACATTGAGCAGAGACCTGTGACAAGAGAGGATACTTGGAGTAGTAGTTGCAAAGGCTTACAGCAGGGGTAGGATTGTTTTTAAAGGAAGAGGAGGGGCCAGGTGCGGTGGCTCACACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACGAGGTCAGGAGATCTAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAAAAAAAAAAAAA... | TCAAGCAGGATGTGGATACAGAGACTGATGGCAACAAAATGCTGGGTGAACTAGCAAACCCTGTCCTCAGTGGCAAAGGTCACATTGAGCAGAGACCTGTGACAAGAGAGGATACTTGGAGTAGTAGTTGCAAAGGCTTACAGCAGGGGTAGGATTGTTTTTAAAGGAAGAGGAGGGGCCAGGTGCGGTGGCTCACACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACGAGGTCAGGAGATCTAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAAAAAAAAAAAAA... | benign | 129,627 |
Gene CNTNAP2 (contactin associated protein 2) variant at chromosome position 147108128 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTCTTGTTCCCTGAGTAAAAGCTCAGGGAACGTTTACTTCCTGAAAGATGAATTAGAAATATTTTATGTCAATTAAAATATGCTAAAGGTGTATAAAACAAGATGTGTCTATTATTTAACTGTCACTGATAGGAAATTGACTGCAAAACTACTGTCTAGAGTTCAGAATTTACTGTCATCTGTTTTTCTTTTATTCACTTTTCAAGATAAAAAGTATCATCAACTGCTGGATTATACGTTCTCCTTTATTTCTCATTGCACATGAAAAAGATATTGCCATTGAAATTCAGCTGTGACAGTATATAGGATTAAGCTGAAG... | ATTCTTGTTCCCTGAGTAAAAGCTCAGGGAACGTTTACTTCCTGAAAGATGAATTAGAAATATTTTATGTCAATTAAAATATGCTAAAGGTGTATAAAACAAGATGTGTCTATTATTTAACTGTCACTGATAGGAAATTGACTGCAAAACTACTGTCTAGAGTTCAGAATTTACTGTCATCTGTTTTTCTTTTATTCACTTTTCAAGATAAAAAGTATCATCAACTGCTGGATTATACGTTCTCCTTTATTTCTCATTGCACATGAAAAAGATATTGCCATTGAAATTCAGCTGTGACAGTATATAGGATTAAGCTGAAG... | benign | 129,637 |
Does the genetic variant at chromosome 7, position 147108136, impacting gene CNTNAP2 (contactin associated protein 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TCCCTGAGTAAAAGCTCAGGGAACGTTTACTTCCTGAAAGATGAATTAGAAATATTTTATGTCAATTAAAATATGCTAAAGGTGTATAAAACAAGATGTGTCTATTATTTAACTGTCACTGATAGGAAATTGACTGCAAAACTACTGTCTAGAGTTCAGAATTTACTGTCATCTGTTTTTCTTTTATTCACTTTTCAAGATAAAAAGTATCATCAACTGCTGGATTATACGTTCTCCTTTATTTCTCATTGCACATGAAAAAGATATTGCCATTGAAATTCAGCTGTGACAGTATATAGGATTAAGCTGAAGTTTAATTG... | TCCCTGAGTAAAAGCTCAGGGAACGTTTACTTCCTGAAAGATGAATTAGAAATATTTTATGTCAATTAAAATATGCTAAAGGTGTATAAAACAAGATGTGTCTATTATTTAACTGTCACTGATAGGAAATTGACTGCAAAACTACTGTCTAGAGTTCAGAATTTACTGTCATCTGTTTTTCTTTTATTCACTTTTCAAGATAAAAAGTATCATCAACTGCTGGATTATACGTTCTCCTTTATTTCTCATTGCACATGAAAAAGATATTGCCATTGAAATTCAGCTGTGACAGTATATAGGATTAAGCTGAAGTTTAATTG... | benign | 129,638 |
Evaluate this variant at chromosome 7, position 147300152, gene CNTNAP2 (contactin associated protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cortical_dysplasia-focal_epilepsy_syndrome'] | GGATTTTATACTGTTTTCTTGATTGAAACAAAATGTGCTCAGTGGCCAGGCGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAGGACCAGCCTGACATGGTGAAACCATGTCTCTACTAAAAATACAAAATTAGCCAGCTGTGGTGATGCACGCCTATAATCCCCGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCCCGTCATTGCACTCCAGCCTAGGAAACAAGAGTGAAACTCCATCA... | GGATTTTATACTGTTTTCTTGATTGAAACAAAATGTGCTCAGTGGCCAGGCGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAGGACCAGCCTGACATGGTGAAACCATGTCTCTACTAAAAATACAAAATTAGCCAGCTGTGGTGATGCACGCCTATAATCCCCGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCCCGTCATTGCACTCCAGCCTAGGAAACAAGAGTGAAACTCCATCA... | pathogenic | 129,686 |
Evaluate if the mutation on chromosome 7 at position 147485950 in CNTNAP2 (contactin associated protein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cortical_dysplasia-focal_epilepsy_syndrome', 'Inborn_genetic_diseases'] | TCCACCTCCTTATCAGTGCTTTTCTCGCCTATTCTGCTAGGAATGATTTTCAACATTTTAATCATAAACATACAACTCTTCTTTTCAGGCCCGGGTGAAATGTTCTGAACTTTATGAAGCCTTTGTTTATCATCCACTTGTAACTCCTCTAGTATCCAAATTTCTATAGCATTTCGTGTATCTTTTATGACTCATCAAATTCTTCTGGGTTTGCATTTTTCATGAATCAGATCCCCACCCCACCTCCACTCAAATTTGGAGATGAAACATCTTTGTAGCCTTGATAACACTGAGCCCAAATTTTATAAAAAAGTAAGTGT... | TCCACCTCCTTATCAGTGCTTTTCTCGCCTATTCTGCTAGGAATGATTTTCAACATTTTAATCATAAACATACAACTCTTCTTTTCAGGCCCGGGTGAAATGTTCTGAACTTTATGAAGCCTTTGTTTATCATCCACTTGTAACTCCTCTAGTATCCAAATTTCTATAGCATTTCGTGTATCTTTTATGACTCATCAAATTCTTCTGGGTTTGCATTTTTCATGAATCAGATCCCCACCCCACCTCCACTCAAATTTGGAGATGAAACATCTTTGTAGCCTTGATAACACTGAGCCCAAATTTTATAAAAAAGTAAGTGT... | pathogenic | 129,695 |
Regarding the variant found on chromosome 7 at position 148118230 in gene CNTNAP2 (contactin associated protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autism,_susceptibility_to,_15', 'Cortical_dysplasia-focal_epilepsy_syndrome', 'Inborn_genetic_diseases'] | GAACACATTAAGAACAGTTTTTACCCTAATGAAGATATTTACAAACATATTTTGCACTAGTTCCCTGTTTATGTATTACCTGCGACAGTAATTAATAGGAATGCCATTGGCTGAGACAGCTTCAGAGCCCTAGATACCTAGGGAAGCAAGCCAAATCCTCTTCAATGTAAATACTGAAACGAAACTAAGCTTATCAGCAATCAGAAACCACCACCTAACCTCTAACTAAAGACTTTCCACATTAACCAATCAAACGGTTTCTTTGTCTTGCATCCACAAACACATTTCTCTCTCTCCAACCCCGCACCCCAGTAGACAAC... | GAACACATTAAGAACAGTTTTTACCCTAATGAAGATATTTACAAACATATTTTGCACTAGTTCCCTGTTTATGTATTACCTGCGACAGTAATTAATAGGAATGCCATTGGCTGAGACAGCTTCAGAGCCCTAGATACCTAGGGAAGCAAGCCAAATCCTCTTCAATGTAAATACTGAAACGAAACTAAGCTTATCAGCAATCAGAAACCACCACCTAACCTCTAACTAAAGACTTTCCACATTAACCAATCAAACGGTTTCTTTGTCTTGCATCCACAAACACATTTCTCTCTCTCCAACCCCGCACCCCAGTAGACAAC... | pathogenic | 129,732 |
Clinical significance of chromosome 7, position 148147770, gene CNTNAP2 (contactin associated protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATCACACAGCCTGTGGGTCATATTATCATCTTCCTGCATTCTGATCATACTTCCATGGAAACCTTGATGGAGGTCACTGGCCTGCAAGTTCAATCCAGTCCCAATGACCCCTGGAGGCAGGGGCTTCTAATTTAGATGAGATATTTTTCTGAAGTGTGTGTCCAATGACCACAGGTGTTGAAATGAAAGTTCTCTCGCTAACGACATGAAGGATCAAAATTCCTTGGTACAATTAGGTTGATTAAATTGAGCTCTGTGTCTAATATCCCTGTAGCTCAATAAAGTTAATGCAGCTTTCCAAGGGGCCCAACACAGAGGCA... | ATCACACAGCCTGTGGGTCATATTATCATCTTCCTGCATTCTGATCATACTTCCATGGAAACCTTGATGGAGGTCACTGGCCTGCAAGTTCAATCCAGTCCCAATGACCCCTGGAGGCAGGGGCTTCTAATTTAGATGAGATATTTTTCTGAAGTGTGTGTCCAATGACCACAGGTGTTGAAATGAAAGTTCTCTCGCTAACGACATGAAGGATCAAAATTCCTTGGTACAATTAGGTTGATTAAATTGAGCTCTGTGTCTAATATCCCTGTAGCTCAATAAAGTTAATGCAGCTTTCCAAGGGGCCCAACACAGAGGCA... | benign | 129,740 |
Gene mutation in CNTNAP2 (contactin associated protein 2) at chromosome 7, position 148383630—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCTCTCTGCCAGCTGAGTATGGGGTTTTTATAGGCACAGGATGTCAGGGGGCAGGCCCATGGGTGGTTTTGGAAAAGGCAACATTTGAGCTGGAAAACAGGGATGTAAGTTCTCACTTTGGGCTGCAGTTTCTGGCTTGAGGGTGAGGGTTTGACAGGGACCCGCCCCTTTCTGCCTAGATTTTCTCTGCCACCTTTCTCTACCATTGTATCAATATTATTATCACATGGCCCTGAGTTGGAACCATCAGGTCCTGCAAACTCCAGAGCATCTACTTACTGCACATTGGCCCCCCCCCAGGGGAATTGGTCCCAGCCAAG... | TCTCTCTGCCAGCTGAGTATGGGGTTTTTATAGGCACAGGATGTCAGGGGGCAGGCCCATGGGTGGTTTTGGAAAAGGCAACATTTGAGCTGGAAAACAGGGATGTAAGTTCTCACTTTGGGCTGCAGTTTCTGGCTTGAGGGTGAGGGTTTGACAGGGACCCGCCCCTTTCTGCCTAGATTTTCTCTGCCACCTTTCTCTACCATTGTATCAATATTATTATCACATGGCCCTGAGTTGGAACCATCAGGTCCTGCAAACTCCAGAGCATCTACTTACTGCACATTGGCCCCCCCCCAGGGGAATTGGTCCCAGCCAAG... | benign | 129,779 |
Is the genetic mutation found on chromosome 7 at position 148383652, within the gene CNTNAP2 (contactin associated protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autism,_susceptibility_to,_15', 'Cortical_dysplasia-focal_epilepsy_syndrome'] | GGTTTTTATAGGCACAGGATGTCAGGGGGCAGGCCCATGGGTGGTTTTGGAAAAGGCAACATTTGAGCTGGAAAACAGGGATGTAAGTTCTCACTTTGGGCTGCAGTTTCTGGCTTGAGGGTGAGGGTTTGACAGGGACCCGCCCCTTTCTGCCTAGATTTTCTCTGCCACCTTTCTCTACCATTGTATCAATATTATTATCACATGGCCCTGAGTTGGAACCATCAGGTCCTGCAAACTCCAGAGCATCTACTTACTGCACATTGGCCCCCCCCCAGGGGAATTGGTCCCAGCCAAGGGTCTCTAGGAAAGAGGCACAT... | GGTTTTTATAGGCACAGGATGTCAGGGGGCAGGCCCATGGGTGGTTTTGGAAAAGGCAACATTTGAGCTGGAAAACAGGGATGTAAGTTCTCACTTTGGGCTGCAGTTTCTGGCTTGAGGGTGAGGGTTTGACAGGGACCCGCCCCTTTCTGCCTAGATTTTCTCTGCCACCTTTCTCTACCATTGTATCAATATTATTATCACATGGCCCTGAGTTGGAACCATCAGGTCCTGCAAACTCCAGAGCATCTACTTACTGCACATTGGCCCCCCCCCAGGGGAATTGGTCCCAGCCAAGGGTCTCTAGGAAAGAGGCACAT... | pathogenic | 129,782 |
Variant in gene CNTNAP2 (contactin associated protein 2), located at chromosome 7 position 148383727: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cortical_dysplasia-focal_epilepsy_syndrome', 'Inborn_genetic_diseases'] | CAGGGATGTAAGTTCTCACTTTGGGCTGCAGTTTCTGGCTTGAGGGTGAGGGTTTGACAGGGACCCGCCCCTTTCTGCCTAGATTTTCTCTGCCACCTTTCTCTACCATTGTATCAATATTATTATCACATGGCCCTGAGTTGGAACCATCAGGTCCTGCAAACTCCAGAGCATCTACTTACTGCACATTGGCCCCCCCCCAGGGGAATTGGTCCCAGCCAAGGGTCTCTAGGAAAGAGGCACATCAACTAGATGTGGAACACACTCCGGTTTTGGAAGTACTGGTTCTGTTCTCCAGGGCATCAGAATCCTCCTTTTTG... | CAGGGATGTAAGTTCTCACTTTGGGCTGCAGTTTCTGGCTTGAGGGTGAGGGTTTGACAGGGACCCGCCCCTTTCTGCCTAGATTTTCTCTGCCACCTTTCTCTACCATTGTATCAATATTATTATCACATGGCCCTGAGTTGGAACCATCAGGTCCTGCAAACTCCAGAGCATCTACTTACTGCACATTGGCCCCCCCCCAGGGGAATTGGTCCCAGCCAAGGGTCTCTAGGAAAGAGGCACATCAACTAGATGTGGAACACACTCCGGTTTTGGAAGTACTGGTTCTGTTCTCCAGGGCATCAGAATCCTCCTTTTTG... | pathogenic | 129,784 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 148383880, gene CNTNAP2 (contactin associated protein 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cortical_dysplasia-focal_epilepsy_syndrome'] | GTCCTGCAAACTCCAGAGCATCTACTTACTGCACATTGGCCCCCCCCCAGGGGAATTGGTCCCAGCCAAGGGTCTCTAGGAAAGAGGCACATCAACTAGATGTGGAACACACTCCGGTTTTGGAAGTACTGGTTCTGTTCTCCAGGGCATCAGAATCCTCCTTTTTGTGACCCTGCTGCCTTACAGGAAAGAAACAACAGTTGAAACACTGGGAATTTTCCCCAATAGGGAGAAGGCACAGAAAGGAGAAAGCTAAAGAAGAGAGTGAAAGAGGCCCAAAGAGAATGGAAAAGTGAGAGCAGGCCATTTGCCAGGGCTCA... | GTCCTGCAAACTCCAGAGCATCTACTTACTGCACATTGGCCCCCCCCCAGGGGAATTGGTCCCAGCCAAGGGTCTCTAGGAAAGAGGCACATCAACTAGATGTGGAACACACTCCGGTTTTGGAAGTACTGGTTCTGTTCTCCAGGGCATCAGAATCCTCCTTTTTGTGACCCTGCTGCCTTACAGGAAAGAAACAACAGTTGAAACACTGGGAATTTTCCCCAATAGGGAGAAGGCACAGAAAGGAGAAAGCTAAAGAAGAGAGTGAAAGAGGCCCAAAGAGAATGGAAAAGTGAGAGCAGGCCATTTGCCAGGGCTCA... | pathogenic | 129,792 |
Variant chromosome 7, position 148409373, gene CNTNAP2 (contactin associated protein 2): benign or pathogenic? Disease(s)? | benign | AAAGTGAGCTGATGAGAAAGTAGCTGACTACACTGTACTACATGTTGGCTCTCCCCATTTCCCTGCCTAGCTAACTGGATTTAGGATTGGACCAATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAAAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATAGGGAAACCCCATCTCTACAAAAAATAAAAAAATTTGCCAGGTGTGATAGTGCATGGCTGTGGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGGAACACTTGAGCCTGGGAGGTCCAGGCTGC... | AAAGTGAGCTGATGAGAAAGTAGCTGACTACACTGTACTACATGTTGGCTCTCCCCATTTCCCTGCCTAGCTAACTGGATTTAGGATTGGACCAATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAAAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATAGGGAAACCCCATCTCTACAAAAAATAAAAAAATTTGCCAGGTGTGATAGTGCATGGCTGTGGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGGAACACTTGAGCCTGGGAGGTCCAGGCTGC... | benign | 129,793 |
Gene CNTNAP2 (contactin associated protein 2) variant at chromosome position 148409383 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GATGAGAAAGTAGCTGACTACACTGTACTACATGTTGGCTCTCCCCATTTCCCTGCCTAGCTAACTGGATTTAGGATTGGACCAATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAAAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATAGGGAAACCCCATCTCTACAAAAAATAAAAAAATTTGCCAGGTGTGATAGTGCATGGCTGTGGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGGAACACTTGAGCCTGGGAGGTCCAGGCTGCAGTGAGCCAT... | GATGAGAAAGTAGCTGACTACACTGTACTACATGTTGGCTCTCCCCATTTCCCTGCCTAGCTAACTGGATTTAGGATTGGACCAATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAAAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATAGGGAAACCCCATCTCTACAAAAAATAAAAAAATTTGCCAGGTGTGATAGTGCATGGCTGTGGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGGAACACTTGAGCCTGGGAGGTCCAGGCTGCAGTGAGCCAT... | benign | 129,794 |
Benign or pathogenic: chromosome 7, position 148409385, gene CNTNAP2 (contactin associated protein 2) variant? Disease(s) if pathogenic? | benign | TGAGAAAGTAGCTGACTACACTGTACTACATGTTGGCTCTCCCCATTTCCCTGCCTAGCTAACTGGATTTAGGATTGGACCAATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAAAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATAGGGAAACCCCATCTCTACAAAAAATAAAAAAATTTGCCAGGTGTGATAGTGCATGGCTGTGGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGGAACACTTGAGCCTGGGAGGTCCAGGCTGCAGTGAGCCATGA... | TGAGAAAGTAGCTGACTACACTGTACTACATGTTGGCTCTCCCCATTTCCCTGCCTAGCTAACTGGATTTAGGATTGGACCAATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAAAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATAGGGAAACCCCATCTCTACAAAAAATAAAAAAATTTGCCAGGTGTGATAGTGCATGGCTGTGGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGGAACACTTGAGCCTGGGAGGTCCAGGCTGCAGTGAGCCATGA... | benign | 129,795 |
Considering the variant on chromosome 7, location 148409385, involving gene CNTNAP2 (contactin associated protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGAGAAAGTAGCTGACTACACTGTACTACATGTTGGCTCTCCCCATTTCCCTGCCTAGCTAACTGGATTTAGGATTGGACCAATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAAAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATAGGGAAACCCCATCTCTACAAAAAATAAAAAAATTTGCCAGGTGTGATAGTGCATGGCTGTGGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGGAACACTTGAGCCTGGGAGGTCCAGGCTGCAGTGAGCCATGA... | TGAGAAAGTAGCTGACTACACTGTACTACATGTTGGCTCTCCCCATTTCCCTGCCTAGCTAACTGGATTTAGGATTGGACCAATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAAAGGCCAAGGTGGGAGGATCGTTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATAGGGAAACCCCATCTCTACAAAAAATAAAAAAATTTGCCAGGTGTGATAGTGCATGGCTGTGGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGGAACACTTGAGCCTGGGAGGTCCAGGCTGCAGTGAGCCATGA... | benign | 129,796 |
Evaluate this variant at chromosome 7, position 148415780, gene CNTNAP2 (contactin associated protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCTTCATTTATTTTGTACTTAGGTTAGATTTATACACATTAGGAACATTATGTCTTCCTGATGAATTCACCCTTTTGTCATTATGAAATGTTCTTCATTTCTACTAACAACCTTGTCCTTTGTCTCATATTAACGTAGCTATTCCAGCTTATGATTATTGTTTGCATATCTTTTCCCACCCTTTTACTGTTGACCTGTATTTAAAGTTCATGTCTTGTAGATATCATATAGTAGGCATCTTTTTTATCCACTGTCTCTACTTTTTAATTGGAGTGTTTAGATCAGTTATATTTACTTCTGTTTTATCTAATCTGTATTAT... | GCTTCATTTATTTTGTACTTAGGTTAGATTTATACACATTAGGAACATTATGTCTTCCTGATGAATTCACCCTTTTGTCATTATGAAATGTTCTTCATTTCTACTAACAACCTTGTCCTTTGTCTCATATTAACGTAGCTATTCCAGCTTATGATTATTGTTTGCATATCTTTTCCCACCCTTTTACTGTTGACCTGTATTTAAAGTTCATGTCTTGTAGATATCATATAGTAGGCATCTTTTTTATCCACTGTCTCTACTTTTTAATTGGAGTGTTTAGATCAGTTATATTTACTTCTGTTTTATCTAATCTGTATTAT... | benign | 129,813 |
Does the variant impacting CNTNAP2 (contactin associated protein 2) on chromosome 7, position 148416888, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGCCCTCCGTGAGCTCTGGTTTTTTGCCTGGCCTGTGGACTTTTATTCTGTACATGCACATGTTAGTATTATTCGGCCACAAATTCAGAGAGACTTATGTGCAGATTATTAGGGTTCTTTCTATACATAGCTCTCTCGCGCGCCCACTCTATCTCCCCTCTCCATTCAGGGAAACCACTGTGCTTTCTTGTGCTGCCCCTCCCTACACTGCTGTCCAAAAATCGCTGCCAGCCAGAAAACTAGGAAAAATGTAGGATTCCTCCTTTTTGTTTCTCTGTTCTCAGACATCATGGTTCCTTTCTGCCTGTTTTCTAATGTC... | CAGCCCTCCGTGAGCTCTGGTTTTTTGCCTGGCCTGTGGACTTTTATTCTGTACATGCACATGTTAGTATTATTCGGCCACAAATTCAGAGAGACTTATGTGCAGATTATTAGGGTTCTTTCTATACATAGCTCTCTCGCGCGCCCACTCTATCTCCCCTCTCCATTCAGGGAAACCACTGTGCTTTCTTGTGCTGCCCCTCCCTACACTGCTGTCCAAAAATCGCTGCCAGCCAGAAAACTAGGAAAAATGTAGGATTCCTCCTTTTTGTTTCTCTGTTCTCAGACATCATGGTTCCTTTCTGCCTGTTTTCTAATGTC... | benign | 129,818 |
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