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 |
|---|---|---|---|---|---|
Variant on chromosome 11, at position 36593025, affecting RAG2 (recombination activating 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | ATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTTATTTAGGTAACATATCTTAATAATTAGAGTAAATCAATATAAATAGAAGATTTTTATATTTTATTATTTTTATATAGGTGATGGAAACAACAAAAGATCAAATCAATGTGCAACAATTGTTCAACAGGAATATTCAGCGAGCAACATTATTGAAACAGAGTGAATATGATTCAGTTTATCAAAGTTAATTTCAGTATCTGGGGACATGGAACTTTCAGCAGAAGAACTTGTACTCCAGCGTTTCATCTCTTGCATAATTCATG... | ATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTTATTTAGGTAACATATCTTAATAATTAGAGTAAATCAATATAAATAGAAGATTTTTATATTTTATTATTTTTATATAGGTGATGGAAACAACAAAAGATCAAATCAATGTGCAACAATTGTTCAACAGGAATATTCAGCGAGCAACATTATTGAAACAGAGTGAATATGATTCAGTTTATCAAAGTTAATTTCAGTATCTGGGGACATGGAACTTTCAGCAGAAGAACTTGTACTCCAGCGTTTCATCTCTTGCATAATTCATG... | pathogenic | 174,641 |
Evaluate this variant at chromosome 11, position 36593309, gene RAG2 (recombination activating 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | TTGTACTCCAGCGTTTCATCTCTTGCATAATTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGC... | TTGTACTCCAGCGTTTCATCTCTTGCATAATTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGC... | pathogenic | 174,646 |
Evaluate the clinical significance of the mutation at chromosome 11, position 36593339 in gene RAG2 (recombination activating 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Recombinase_activating_gene_2_deficiency', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | TTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACAC... | TTCATGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACAC... | pathogenic | 174,648 |
The genetic variant at chromosome 11, position 36593444, affecting gene RAG2 (recombination activating 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | TTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAA... | TTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAA... | pathogenic | 174,650 |
For chromosome 11, position 36593620, gene RAG2 (recombination activating 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | ACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGG... | ACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGG... | pathogenic | 174,656 |
Is the genetic variant on chromosome 11, position 36593779, gene RAG2 (recombination activating 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | TGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACT... | TGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACT... | pathogenic | 174,662 |
A genetic alteration at chromosome 11, position 44107796, in gene EXT2 (exostosin glycosyltransferase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Exostoses,_multiple,_type_2'] | GATCTTAAAATGTGGTCTACATGGGAACTCTACATTTTTAGCTGAGGACTACAAATTTTCTTTACATCTCAGTCAATAATGCTTATTGGCTGTTTTATATATCTATAGCTGTATAACAAACCACCCCAAAACTTAGAAGCTTTAAACAACAACAGTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAA... | GATCTTAAAATGTGGTCTACATGGGAACTCTACATTTTTAGCTGAGGACTACAAATTTTCTTTACATCTCAGTCAATAATGCTTATTGGCTGTTTTATATATCTATAGCTGTATAACAAACCACCCCAAAACTTAGAAGCTTTAAACAACAACAGTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAA... | pathogenic | 174,690 |
Variant in EXT2 (exostosin glycosyltransferase 2), chromosome 11, position 44107914—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Exostoses,_multiple,_type_2'] | AACCACCCCAAAACTTAGAAGCTTTAAACAACAACAGTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACA... | AACCACCCCAAAACTTAGAAGCTTTAAACAACAACAGTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACA... | pathogenic | 174,694 |
Is chromosome 11, position 44107950, gene EXT2 (exostosin glycosyltransferase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Exostoses,_multiple,_type_2'] | GTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAA... | GTCATTTATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAA... | pathogenic | 174,695 |
Located at chromosome 11 position 44107956, the variant affecting gene EXT2 (exostosin glycosyltransferase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Exostoses,_multiple,_type_2'] | TATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAG... | TATTTGCTGATGATTGTGGAATCTATGCAGAGCTTGGTGGGGATGGCTCATCTCTTCCCTAATGGTTTTGACTGAGATCTCCGTGTCCACTGGGGCAGGTTGCCTTCCACTGGGAGCTCAGCTTCCTTAGAGCATGGCGGCTGGATTCGAAGAGTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAG... | pathogenic | 174,696 |
A genetic variant on chromosome 11, position 44108109, affects the gene EXT2 (exostosin glycosyltransferase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Exostoses,_multiple,_type_2'] | GTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTA... | GTGCAAAGGCAGACTCTATAGGGCCTCTCAAGTCTTGTGCTCAAAAATCCCAAAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTA... | pathogenic | 174,700 |
Chromosome 11, position 44108161, gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['EXT2-related_disorder', 'Exostoses,_multiple,_type_2'] | AAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGA... | AAACATCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGA... | pathogenic | 174,701 |
The genetic variant at chromosome 11, position 44108166, affecting gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Exostoses,_multiple,_type_2'] | TCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAA... | TCACTTCAGCCACATTTTCTTGGTCAAAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAA... | pathogenic | 174,702 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 44108192, gene EXT2 (exostosin glycosyltransferase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Exostoses,_multiple,_type_2'] | AAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATC... | AAGCAAATCATAAAGCTAGCCTAGATTCATGGGGAAGGGACATGGATTCTACATTTTGTTTGGAGAAGTACCATGCAAATTCAGGGATGGAAAGAACTGTTGGTGTTCGTCTTTGTAAATGAATCTACCACATTGGCCCTTTTCCTCCCTTTCTCCCTTCTCTCTCTTTCTCTTCCTTTTCCTCCCTCCCTTTGTCTCTCCTACCCCATTCCTTTCTTCATTTCTTCCATTTATCTAAATGCAACTATCACCTTCATTATAAATCATCACTATATGTTTTATTTGAAGATGAAAGATTAATTTTTTTTCTTATTGATATC... | pathogenic | 174,703 |
Gene mutation in EXT2 (exostosin glycosyltransferase 2) at chromosome 11, position 44109281—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Exostoses,_multiple,_type_2'] | TTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTC... | TTTATAAGAAGTGTCCAAAGTCCCTTTTTGTTATTTCACCACACCACTTAAGGGAAAGAAATAGGTACATTAAAAGTAGAGGCTGGGCGCGGTGGCTTATGCCTATGATCCTAGCATTTTGGGAGGCCGAGGCAGGCTGATAGATTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACTCCTTCTCTACTAAAAATGCAAAAAATTAGCTGGGCGTGGTGGTCACAGTTACTTGGGAGGCCAAAGTGGGAGGATTGCTTGAGCCTGGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTC... | pathogenic | 174,712 |
Evaluate this variant at chromosome 11, position 44124829, gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Exostoses,_multiple,_type_2'] | GCAGTAAGGACGTGGTCAACGTTTGTGCTGTCAGGCAGCCCCAGCCACATATGGCTATTTGAGCACTGGAAATGGGCCTAGTGTGACTGACAAACTGAACTTTTAATTTTATTTACTTTTAATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACT... | GCAGTAAGGACGTGGTCAACGTTTGTGCTGTCAGGCAGCCCCAGCCACATATGGCTATTTGAGCACTGGAAATGGGCCTAGTGTGACTGACAAACTGAACTTTTAATTTTATTTACTTTTAATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACT... | pathogenic | 174,725 |
Clinically, how would you classify the variant at chromosome 11, position 44124950, gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Exostoses,_multiple,_type_2', 'Seizures-scoliosis-macrocephaly_syndrome'] | ATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAAGGAGATGACCTTCTCAGTTAGAGTATAATTATTGAGTGAGAT... | ATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAAGGAGATGACCTTCTCAGTTAGAGTATAATTATTGAGTGAGAT... | pathogenic | 174,733 |
Clinically, how would you classify the variant at chromosome 11, position 44171696, gene EXT2 (exostosin glycosyltransferase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Exostoses,_multiple,_type_2'] | AATATATTAAAACCCAGTAACAGATTGATTATCCCTTATCCAAAATGCTTGGGAGCAGAAGTATTTCAGATTTCAGATTTTTTTTTAGATTTTAGGGAATCTGAAATGCTCCAATGAGTATTTCCTTTGAGCATCATGTCAGCACTCAAAAAGTTTTGGATTTTGGAGCATTTTAGCTTTGATTTTTTGGATTTAGGATGCTCAACCTGTATATGCTTTTCGCAATAGACAAGCTTTGAGGGTACAAATTTGAAATGTATATTTATAAACTTGAAATACTTACATATATATGTATATAAATATACACACACACCCCACAC... | AATATATTAAAACCCAGTAACAGATTGATTATCCCTTATCCAAAATGCTTGGGAGCAGAAGTATTTCAGATTTCAGATTTTTTTTTAGATTTTAGGGAATCTGAAATGCTCCAATGAGTATTTCCTTTGAGCATCATGTCAGCACTCAAAAAGTTTTGGATTTTGGAGCATTTTAGCTTTGATTTTTTGGATTTAGGATGCTCAACCTGTATATGCTTTTCGCAATAGACAAGCTTTGAGGGTACAAATTTGAAATGTATATTTATAAACTTGAAATACTTACATATATATGTATATAAATATACACACACACCCCACAC... | pathogenic | 174,752 |
Is the variant located on chromosome 11 at position 44232467, gene EXT2 (exostosin glycosyltransferase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Exostoses,_multiple,_type_2'] | TATGGGTTGAATTGTTGAAGTCCTGATCTTCAGTACCTCAAAATGTGACTTTATTTGGAAATGGGGTATTTTCAGAGGTTAATCAAGTTAAAATGTTGTCAGGGTGACCCCTAATTCACAGACTGATGTCCTTATCGAAAGGGGAAATTTAGACACAGAGATAGACTTGCACAGGGGGGAAGATGGCCTTGTGAAGATGGAGGGTTGGAGTGAGGCATCTACAAGCCAGGCAATGCCAGAGATTGACAGCCAGCTACCAGAAGCTAGGAAGAGGCAAGGAAACATTTCCCGATATGTTTCAGTGGGAGCATGGCCTTAAT... | TATGGGTTGAATTGTTGAAGTCCTGATCTTCAGTACCTCAAAATGTGACTTTATTTGGAAATGGGGTATTTTCAGAGGTTAATCAAGTTAAAATGTTGTCAGGGTGACCCCTAATTCACAGACTGATGTCCTTATCGAAAGGGGAAATTTAGACACAGAGATAGACTTGCACAGGGGGGAAGATGGCCTTGTGAAGATGGAGGGTTGGAGTGAGGCATCTACAAGCCAGGCAATGCCAGAGATTGACAGCCAGCTACCAGAAGCTAGGAAGAGGCAAGGAAACATTTCCCGATATGTTTCAGTGGGAGCATGGCCTTAAT... | pathogenic | 174,761 |
Evaluate if the mutation on chromosome 11 at position 44309737 in ALX4 (ALX homeobox 4) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CAGGGACGAGCTGGGGCCTGCATCCCTGGGCTGGGAAGGACAGCCAGTACGGACAGGGCTGAGAGTCTCTGCTGGCTTAGCACGGAAAGAGTGCCTGTATGAGAGCTGTGTGTGTCCATGTGCGGAGCTGTGTGTGTCTGTGTGTGGAGCTGTGTGTGTCCATGTGTGGAGCTGTGTGTGTCCGTGTGTGGAGCTGTGGGTGTCCGTGTGTGGAGCTGTGGGTGTCTGTGTGTGGAGCAGTGGGTGTCTGTGTGTGGAACTGTGTGTGCCTGCATGTGGAGCTGTGGGTGTCTGTGTGTGGAGCCTTGGGGGTCTGTGAT... | CAGGGACGAGCTGGGGCCTGCATCCCTGGGCTGGGAAGGACAGCCAGTACGGACAGGGCTGAGAGTCTCTGCTGGCTTAGCACGGAAAGAGTGCCTGTATGAGAGCTGTGTGTGTCCATGTGCGGAGCTGTGTGTGTCTGTGTGTGGAGCTGTGTGTGTCCATGTGTGGAGCTGTGTGTGTCCGTGTGTGGAGCTGTGGGTGTCCGTGTGTGGAGCTGTGGGTGTCTGTGTGTGGAGCAGTGGGTGTCTGTGTGTGGAACTGTGTGTGCCTGCATGTGGAGCTGTGGGTGTCTGTGTGTGGAGCCTTGGGGGTCTGTGAT... | benign | 174,814 |
The mutation in gene ALX4 (ALX homeobox 4) at chromosome 11, position 44309808—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CTGGCTTAGCACGGAAAGAGTGCCTGTATGAGAGCTGTGTGTGTCCATGTGCGGAGCTGTGTGTGTCTGTGTGTGGAGCTGTGTGTGTCCATGTGTGGAGCTGTGTGTGTCCGTGTGTGGAGCTGTGGGTGTCCGTGTGTGGAGCTGTGGGTGTCTGTGTGTGGAGCAGTGGGTGTCTGTGTGTGGAACTGTGTGTGCCTGCATGTGGAGCTGTGGGTGTCTGTGTGTGGAGCCTTGGGGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATC... | CTGGCTTAGCACGGAAAGAGTGCCTGTATGAGAGCTGTGTGTGTCCATGTGCGGAGCTGTGTGTGTCTGTGTGTGGAGCTGTGTGTGTCCATGTGTGGAGCTGTGTGTGTCCGTGTGTGGAGCTGTGGGTGTCCGTGTGTGGAGCTGTGGGTGTCTGTGTGTGGAGCAGTGGGTGTCTGTGTGTGGAACTGTGTGTGCCTGCATGTGGAGCTGTGGGTGTCTGTGTGTGGAGCCTTGGGGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATC... | pathogenic | 174,816 |
Chromosome 11, position 44310046, gene ALX4 (ALX homeobox 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Parietal_foramina_2'] | GGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATCTTTCTAAATCTTCTCTCAGTTCTGTCCTATGGGTTTGGGAGTATGTGGCTCATTCGAGGCCACATGGGCATGTGTTCTTGGGGTATGACCACATCGGCTCCTAAAGAAGATGCTCTCTGCGTGTGTGTGTGTAGAGTGCAATTGTAGACAAGCATATGACTGTGAATGTTTGTCAGCAGCCATCTATGAACTAGTTCTGCGCCTGTGAAAGAAGGAACCTGAATACGAGAAAATATCT... | GGGTCTGTGATCTGAATGCCTGATCTCATTCCAACTGGAGGTGAAGAGGAAGGTGGAGGAAGTGGGGAAGGGCCACTGAATCTTTCTAAATCTTCTCTCAGTTCTGTCCTATGGGTTTGGGAGTATGTGGCTCATTCGAGGCCACATGGGCATGTGTTCTTGGGGTATGACCACATCGGCTCCTAAAGAAGATGCTCTCTGCGTGTGTGTGTGTAGAGTGCAATTGTAGACAAGCATATGACTGTGAATGTTTGTCAGCAGCCATCTATGAACTAGTTCTGCGCCTGTGAAAGAAGGAACCTGAATACGAGAAAATATCT... | pathogenic | 174,821 |
The genetic variant at chromosome 11, position 45934055, affecting gene PHF21A (PHD finger protein 21A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures'] | AGGCAGAGAAAGGAGTGGGAGCTTCAGACCTCTCCCCAAAGGCAAGACAGAGCGAAGGCCACGCTGGGGCTCTGTCTCAGAGACGTACCCTCAAAACATGTCACTCCTCCTCTGTTCTAAGCACCAAGGGCTGATGCAGCCAGCCTGTACTCCCGCACCCTCCTGTCACGGCCAGGGTGCGTGCGCACCACAGAGCTCCGCTGGCCAGTTCCCTCGGAGGTGTCCCCCAGGCACTCATAATGCTGGTGGCTGAAAGACCAAAAGCAGCACCAAAGGAAGGGATCTTATTTAGGCACCAGCCTTTTGCTCTAGCAGAATCT... | AGGCAGAGAAAGGAGTGGGAGCTTCAGACCTCTCCCCAAAGGCAAGACAGAGCGAAGGCCACGCTGGGGCTCTGTCTCAGAGACGTACCCTCAAAACATGTCACTCCTCCTCTGTTCTAAGCACCAAGGGCTGATGCAGCCAGCCTGTACTCCCGCACCCTCCTGTCACGGCCAGGGTGCGTGCGCACCACAGAGCTCCGCTGGCCAGTTCCCTCGGAGGTGTCCCCCAGGCACTCATAATGCTGGTGGCTGAAAGACCAAAAGCAGCACCAAAGGAAGGGATCTTATTTAGGCACCAGCCTTTTGCTCTAGCAGAATCT... | pathogenic | 174,891 |
Chromosome 11, position 45953586, gene PHF21A (PHD finger protein 21A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures'] | TGTATGTTGAAATGACATACACTTTGTGGTTGCCAACTAACTACATTCCTAATTTTCACTATTCCTTAGAAATATAATCAAGATCAAGAGGCTTTCCCCTAACTGTTGTTCTTTTGATGAAGCAGTGTGTGGACTGATATTCAGATGCACCCTCTTTTAAGCAAGTAACAGCACCCTTATTGGCCACTCACACCCAAATCATCTTTGCCAGTTTAGATCAAGCTCATAAAATAATTAAGTGAAAAAAAATGTCCTCTCTTGTGGAATAAATTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTCACCCAGGCTGCA... | TGTATGTTGAAATGACATACACTTTGTGGTTGCCAACTAACTACATTCCTAATTTTCACTATTCCTTAGAAATATAATCAAGATCAAGAGGCTTTCCCCTAACTGTTGTTCTTTTGATGAAGCAGTGTGTGGACTGATATTCAGATGCACCCTCTTTTAAGCAAGTAACAGCACCCTTATTGGCCACTCACACCCAAATCATCTTTGCCAGTTTAGATCAAGCTCATAAAATAATTAAGTGAAAAAAAATGTCCTCTCTTGTGGAATAAATTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTCACCCAGGCTGCA... | pathogenic | 174,900 |
Benign or pathogenic: chromosome 11, position 46366380, gene DGKZ (diacylglycerol kinase zeta) variant? Disease(s) if pathogenic? | benign | TTGTCAGGGGCTTAGCACAGTGCCTGACACATAGGGGCTCAGTAAATGTCAGCCGTGACACTGGTGATTTTGGGGGAGACCCAGCGCTCTCCACCCATGCCTGCTGTCCTGCCCCTGCAGCTCCCTCCGGCCCAGGTGGTCTGCTTTGAGTGGGGCACTATTTGGGGTCATAAGAGCACTGCCCTGACCTCCCTGTCATCTGAGGCAGCTGGAAACTCCAATAGGCAGAGACCAAGAGCTGAGCTGTGCAGAACTCTGCTTCCCTAGGCACCTCCACCCTGTCCATCTCTCCCCCAACACCCCTGTACCTGGCCTGAAGC... | TTGTCAGGGGCTTAGCACAGTGCCTGACACATAGGGGCTCAGTAAATGTCAGCCGTGACACTGGTGATTTTGGGGGAGACCCAGCGCTCTCCACCCATGCCTGCTGTCCTGCCCCTGCAGCTCCCTCCGGCCCAGGTGGTCTGCTTTGAGTGGGGCACTATTTGGGGTCATAAGAGCACTGCCCTGACCTCCCTGTCATCTGAGGCAGCTGGAAACTCCAATAGGCAGAGACCAAGAGCTGAGCTGTGCAGAACTCTGCTTCCCTAGGCACCTCCACCCTGTCCATCTCTCCCCCAACACCCCTGTACCTGGCCTGAAGC... | benign | 174,947 |
Clinical classification of chromosome 11, position 46703166, gene ZNF408 (zinc finger protein 408): benign or pathogenic? Disease(s) if pathogenic? | benign | CCGCGACCCTCAACCTTGGCCCAGGTGGATCTGACGCTCTGTGGTCAGCTTTCTCCTCAGTCTTCTCTCCTCCGGATCCCAGGATCCTCCAGTGCCCTCAGAGTCGCTGGGGGCTTCTGAAGAGCCCTTGAGCCTCCTCAAAACTTTCAGGGCCCTCCTTAGAGCCCTCACCTGTCCCTCGGGCTCCGCAGGCCCACCTGGACCTGCGGTTTCCTCCCACACTTTTCCCCACCTCCCACCTTCTTGGGTGGCTCCCTCACTGTCTTCCCTTCTCTCTGCAGCCCGCGAGCCGCGCCTGGGCCTGGACTTAGGATGGAACC... | CCGCGACCCTCAACCTTGGCCCAGGTGGATCTGACGCTCTGTGGTCAGCTTTCTCCTCAGTCTTCTCTCCTCCGGATCCCAGGATCCTCCAGTGCCCTCAGAGTCGCTGGGGGCTTCTGAAGAGCCCTTGAGCCTCCTCAAAACTTTCAGGGCCCTCCTTAGAGCCCTCACCTGTCCCTCGGGCTCCGCAGGCCCACCTGGACCTGCGGTTTCCTCCCACACTTTTCCCCACCTCCCACCTTCTTGGGTGGCTCCCTCACTGTCTTCCCTTCTCTCTGCAGCCCGCGAGCCGCGCCTGGGCCTGGACTTAGGATGGAACC... | benign | 174,983 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 46881666, gene LRP4 (LDL receptor related protein 4). What disease(s) is it linked to if pathogenic? | benign | TTTACAGTGGACACTACCTTAACCATACAATGGCAGTAAGTATCACAATAACGGAACAGGCCAACACCTGTGTCTACTGATGAGACACACTGAGAACTCAAGGACATGACTTCACTTAGTGTAGTATTCCTGCTGCAAATGCACACTCTGAATCCAATCACAAGGAAACATTAGATAAATCCAAGTTGAGAGACATTATAAAAAATAACTGGCCTTTACTCTTTAAAAATGCAAATGTCCACTTTGGGAGGTCCAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCGAAACCCTGTCT... | TTTACAGTGGACACTACCTTAACCATACAATGGCAGTAAGTATCACAATAACGGAACAGGCCAACACCTGTGTCTACTGATGAGACACACTGAGAACTCAAGGACATGACTTCACTTAGTGTAGTATTCCTGCTGCAAATGCACACTCTGAATCCAATCACAAGGAAACATTAGATAAATCCAAGTTGAGAGACATTATAAAAAATAACTGGCCTTTACTCTTTAAAAATGCAAATGTCCACTTTGGGAGGTCCAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCGAAACCCTGTCT... | benign | 175,088 |
For chromosome 11, position 46889545, gene LRP4 (LDL receptor related protein 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GAGACCAGCCTGAGCAACATAGTGGAACCCCGTCTCTACTAAAAATACAAAATTCACTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATAGATCACGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGCCCAAAGCAGAAGAATCGCTTGAACCAGGGAGGTGGAGGTTACAATGAGCCGAGATCATGCCGCCACACTCCAGCCTGGGTGACAGAG... | GAGACCAGCCTGAGCAACATAGTGGAACCCCGTCTCTACTAAAAATACAAAATTCACTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATAGATCACGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGCCCAAAGCAGAAGAATCGCTTGAACCAGGGAGGTGGAGGTTACAATGAGCCGAGATCATGCCGCCACACTCCAGCCTGGGTGACAGAG... | benign | 175,097 |
The chromosome 11, position 46899505 genetic variant in gene LRP4 (LDL receptor related protein 4): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCGGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTATACTTCTTT... | GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCGGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTATACTTCTTT... | benign | 175,132 |
The mutation in gene LRP4 (LDL receptor related protein 4) at chromosome 11, position 46900389—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTAACCATGTTACCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCCACCTTGGTCTCCCAAAGTGCTGGCATTATAAGCATGAGCCACCGCGCCCAGCCGGTAGTGGCCTCTTTGGCTCCACAAGCCTTCTCCTTAGTTCAAGCCCAACCTAATTCCATTTCCCCACTCACTGCAGTTGCGCTCATCAGACTGGTCATCACAGTCCGCGTCACCATCGCAGCGCCAGCCTGCATTGATGCACAGGCCACTGTCACACATGAACTCCCCAGAGCG... | ACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTAACCATGTTACCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCCACCTTGGTCTCCCAAAGTGCTGGCATTATAAGCATGAGCCACCGCGCCCAGCCGGTAGTGGCCTCTTTGGCTCCACAAGCCTTCTCCTTAGTTCAAGCCCAACCTAATTCCATTTCCCCACTCACTGCAGTTGCGCTCATCAGACTGGTCATCACAGTCCGCGTCACCATCGCAGCGCCAGCCTGCATTGATGCACAGGCCACTGTCACACATGAACTCCCCAGAGCG... | benign | 175,143 |
Is the variant located on chromosome 11 at position 47215219, gene DDB2, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Xeroderma_pigmentosum,_group_E'] | TCCTAGGTGGACACCCAACAGGTTAGGCAAGTCTTAGTTAAAAGCAGTGAGAGGCCAAGAGGCTGGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGTCAGGCGTGGTGGTGTGTGCCTCTAGTCCCAGCTGCTCCGGAGACTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGATTGTGCCACTGCACTCCGGCCTGGGCA... | TCCTAGGTGGACACCCAACAGGTTAGGCAAGTCTTAGTTAAAAGCAGTGAGAGGCCAAGAGGCTGGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGAAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGTCAGGCGTGGTGGTGTGTGCCTCTAGTCCCAGCTGCTCCGGAGACTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGATTGTGCCACTGCACTCCGGCCTGGGCA... | pathogenic | 175,153 |
Gene DDB2 (damage specific DNA binding protein 2) variant at chromosome position 47234779 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Xeroderma_pigmentosum,_group_E'] | GACGGCGCAGCATGTGTGCCCAGGCCTGGTTCCTCACGGCCAGGCCCATCATCACTCACTGGCTTTTTCCTTCCTCGTGTTAGATTGGAGCTGGAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTG... | GACGGCGCAGCATGTGTGCCCAGGCCTGGTTCCTCACGGCCAGGCCCATCATCACTCACTGGCTTTTTCCTTCCTCGTGTTAGATTGGAGCTGGAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTG... | pathogenic | 175,158 |
Classify the chromosome 11 variant at position 47285126 affecting gene MADD (MAP kinase activating death domain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | TTAATTTTATTTTATTTTATTTATTTATTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGACGCAATCTCGGCTCACTGCCAGCTCCGCCTCCCGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGAGAATACAGGCGTGAGCCACCGCGCCCGGCCTTATT... | TTAATTTTATTTTATTTTATTTATTTATTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGACGCAATCTCGGCTCACTGCCAGCTCCGCCTCCCGGCTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGAGAATACAGGCGTGAGCCACCGCGCCCGGCCTTATT... | pathogenic | 175,184 |
Considering the genetic mutation at chromosome 11, position 47331512, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTGTCCCTGGCGTTATAACTGTCCACTGCAAGAGTCTGGCTCTCCCTTCTCTGTGACCCGGCATGACTGGGCGCCTGGAGCAGTTTCACTCTGTGAGGAGTGAGGGAACCCTGGGGCTCACCCTCTCAGAGGAAGGGCACAGAGAGGAAGGGAAGAATTGGGGGGCAGCCGGAGTGAGTGGCAGCCTCCCTGCTTCCTTCTGCATTCCCAAGCCGGCAGCTACTGCCCAGGGCCCGCAGTGTTGGCTGCTGCCTGCCACAGCCTCTGTGACTGCAGTGGAGCGGCGAATTCCCTGTGGCCTGCCATGCCTTCGGCATCAG... | TTGTCCCTGGCGTTATAACTGTCCACTGCAAGAGTCTGGCTCTCCCTTCTCTGTGACCCGGCATGACTGGGCGCCTGGAGCAGTTTCACTCTGTGAGGAGTGAGGGAACCCTGGGGCTCACCCTCTCAGAGGAAGGGCACAGAGAGGAAGGGAAGAATTGGGGGGCAGCCGGAGTGAGTGGCAGCCTCCCTGCTTCCTTCTGCATTCCCAAGCCGGCAGCTACTGCCCAGGGCCCGCAGTGTTGGCTGCTGCCTGCCACAGCCTCTGTGACTGCAGTGGAGCGGCGAATTCCCTGTGGCCTGCCATGCCTTCGGCATCAG... | benign | 175,189 |
The chromosome 11, position 47332086 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CTCCCTGGCTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTG... | CTCCCTGGCTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTG... | pathogenic | 175,200 |
Considering the genetic mutation at chromosome 11, position 47332094, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | CTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTC... | CTGCCTTGTGTTAAATGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTC... | pathogenic | 175,201 |
Evaluate the clinical significance of the mutation at chromosome 11, position 47332109 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction'] | TGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGT... | TGACACCTCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGT... | pathogenic | 175,204 |
Mutation at chromosome 11, position 47332116, within MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'likely other unspecified diseases'] | TCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATG... | TCCTCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATG... | pathogenic | 175,208 |
Is the variant located on chromosome 11 at position 47332119, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | TCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTC... | TCTTGGCTCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTC... | pathogenic | 175,209 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47332126, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | TCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAG... | TCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAG... | pathogenic | 175,211 |
Is the genetic change at chromosome 11, position 47332126, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_1', 'Left_ventricular_noncompaction_10', 'Primary_dilated_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | TCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAG... | TCAGGCCTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAG... | pathogenic | 175,212 |
Regarding the variant found on chromosome 11 at position 47332132 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGG... | CTGAGGAAAGCTATCCCTGGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGG... | pathogenic | 175,213 |
Benign or pathogenic: chromosome 11, position 47332150, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | GGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTC... | GGACTCTAAAAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTC... | pathogenic | 175,215 |
Considering the variant on chromosome 11, location 47332159, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypertrophic_cardiomyopathy'] | AAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGC... | AAAGTCACCTCAGGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGC... | pathogenic | 175,217 |
Regarding the variant at chromosome 11 and position 47332171, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | GGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTG... | GGCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTG... | pathogenic | 175,219 |
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47332172—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_1'] | GCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGG... | GCTGGAAGGAAGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGG... | pathogenic | 175,220 |
Mutation at chromosome 11, position 47332182, within MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGT... | AGGAAGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGT... | pathogenic | 175,224 |
Does the chromosome 11 mutation at position 47332186 within gene MYBPC3 (myosin binding protein C3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTC... | AGGAGATGAGGTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTC... | pathogenic | 175,225 |
A mutation at chromosome position 47332196 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | GTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAG... | GTCATCCATGTCCAAGCTTTGGCACACGGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAG... | pathogenic | 175,229 |
Benign or pathogenic: chromosome 11, position 47332223, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'MYBPC3-related_disorder'] | GGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTG... | GGAGGCCCCAGCTCCCCTGTTCTGGGCTCCTAGAGCAAGGCTGCGGGAGGAGCTTTCCTTCCTGGGCACCTGAGGGCCCTGCAGAGAGCTGGGCTGCCATGAATGAACAGGCTGCTAGAGGGAGCAGCCAGACTGGGCGTCCTCACCTGAACTGAGATTAAGTGAAAGAAAGCCAAGGCCCTGGCCCTCTCCGTTCCCTTACAGGTGGGTATGGTCGAGAGAGGTGTGGTGATTCAGCCAGGGCCTCCCACAGGGCCCCGGACTCCTGGCCAGGAGTGTCTTCCACTGCATAGAACTCCCAGAAGCTCCCCTAGGAGCTG... | pathogenic | 175,233 |
Located at chromosome 11 position 47332545, the variant affecting gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTT... | TTCATGGAATTCTGTCCTGGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTT... | pathogenic | 175,242 |
Is chromosome 11, position 47332563, gene MYBPC3 (myosin binding protein C3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGC... | GGAAAAACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGC... | pathogenic | 175,244 |
Considering the variant on chromosome 11, location 47332568, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAG... | AACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAG... | pathogenic | 175,246 |
Chromosome 11, position 47332568, gene MYBPC3 (myosin binding protein C3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | AACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAG... | AACCTGGCTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAG... | pathogenic | 175,247 |
Gene mutation in MYBPC3 (myosin binding protein C3) at chromosome 11, position 47332575—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACG... | CTGCACTCTCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACG... | pathogenic | 175,248 |
Assess the variant on chromosome 11, position 47332583, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | TCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCAC... | TCAGGGAATTTGAGACCTGCTGGCTTCCCGCGCCCAAAAGGAAACAGATGCTCGGATTTAGGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCAC... | pathogenic | 175,249 |
The genetic variant at chromosome 11, position 47332643, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGA... | GGCTCCCCATGGGGGAAGTGAGAGCAGAGTGGGGCCCTGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGA... | pathogenic | 175,255 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47332680: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | TGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAAT... | TGGCCCTGACACCTTTCTGGTGCCCAGCGTCCTGGACTGGATTGGGTTGCTGTCTCCCACCGGGGATATGGGTCTGAACCCGCTGCTGGCTTATTGCTGGCTGGGACTCCAAAGCCACCTAGTGCAGCTCCACCCCAGCACAATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAAT... | pathogenic | 175,259 |
Mutation found at chromosome 11 position 47332822, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | ATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACT... | ATCACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACT... | pathogenic | 175,266 |
Clinically, how would you classify the variant at chromosome 11, position 47332824, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCC... | CACAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCC... | pathogenic | 175,267 |
Regarding the variant found on chromosome 11 at position 47332826 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCAT... | CAACACTGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCAT... | pathogenic | 175,268 |
Gene mutation in MYBPC3 (myosin binding protein C3) at chromosome 11, position 47332832—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype'] | TGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCA... | TGAGATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCA... | pathogenic | 175,269 |
Clinical significance of chromosome 11, position 47332836, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | ATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCT... | ATTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCT... | pathogenic | 175,271 |
Is the genetic change at chromosome 11, position 47332837, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTG... | TTCTGCCTCACCCCACCTCCAGGCGGTTGTGACCACGGCCCCTGGCACAAGGATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTG... | pathogenic | 175,273 |
For chromosome 11, position 47332889, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypertrophic_cardiomyopathy_4'] | ATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAG... | ATCACGCTGAGCACCTGGGACCAGTTAAATGCACTTTCCGCTGTCACAGCTCAGTTTCATCATCTGAAGAGTGAATGCTGTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAG... | pathogenic | 175,279 |
Determine whether the variant at chromosome 11, position 47332968, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | GTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAG... | GTAGGGGAAGACAGGTTCCTTCTAGCGTTAATGTTTTATGAACTCAGAAACCACTCTGGGCCTGGTTTAATCATCGGGAAAACAAAACAAAAAACAGTATCTGCTCTCACTTTGCTGTGAAGATCAATGTCCCTGGGCTTTTTTCTTTTTTTTTTTTTGAGACATGGTCTCACTCCATCACCCAGGCTGAAGTGCAGTGGCATGATCTCGGCCCACCTCAAACTCTACCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAG... | pathogenic | 175,292 |
The chromosome 11, position 47333195 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAG... | CCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAG... | pathogenic | 175,305 |
Considering the variant on chromosome 11, location 47333196, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGG... | CTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGG... | pathogenic | 175,306 |
The genetic variant at chromosome 11, position 47333202, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAA... | GGTTCAGGTGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAA... | pathogenic | 175,307 |
Regarding the variant at chromosome 11 and position 47333210, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | TGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGT... | TGATTCTCCTGCCTCAGCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGT... | pathogenic | 175,309 |
Evaluate if the mutation on chromosome 11 at position 47333226 in MYBPC3 (myosin binding protein C3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTC... | GCCTTCCAAATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTC... | pathogenic | 175,311 |
Does the genetic variant at chromosome 11, position 47333235, impacting gene MYBPC3 (myosin binding protein C3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | ATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCA... | ATAGCTGGGATTATAGGCGCGCCACCTTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCA... | pathogenic | 175,315 |
Variant at chromosome position 47333281, chromosome 11, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTG... | TTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTG... | pathogenic | 175,327 |
Determine if the mutation at chromosome 11, position 47333295 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTG... | GGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTG... | pathogenic | 175,331 |
Clinical classification of chromosome 11, position 47333297, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | GGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCA... | GGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCA... | pathogenic | 175,333 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47333306—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypertrophic_cardiomyopathy'] | ATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACT... | ATGTTGGCCAGGCTGGTCTTGATCTCCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACT... | pathogenic | 175,335 |
Determine whether the variant at chromosome 11, position 47333331, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGC... | CCTGACCTCAGGTGATCGGCCCGCCTCCGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCTGGCCATCCCCTGTGCATTTTTATGAAAACAGGCACACCGAAATTGAGAAGAGTGAGTTCTCTGTGACTGCACTTATCTTTTATTGCCCAATAAACATTGGGAAGACATAGCAGGCCAGAAAGGCCTGTCCCCAGACATTGTTTCTTGAGGCCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGC... | pathogenic | 175,338 |
Is the chromosome 11, position 47333552 variant in MYBPC3 (myosin binding protein C3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCC... | CCACCCTCCTTTTACCCCAAAGATCCAGGGGCTTCCTTCAGGAGCCCTGTGGACCAGTCTGTGCAACACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCC... | pathogenic | 175,343 |
The chromosome 11, position 47333619 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | ACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAG... | ACCCACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAG... | pathogenic | 175,352 |
Considering the genetic mutation at chromosome 11, position 47333622, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGG... | CACTCAGGACTGCCCGACAACTGCCCTGCTGATCCCCCATCGCAGCACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGG... | pathogenic | 175,353 |
The genetic variant at chromosome 11, position 47333668, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | ACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCA... | ACAGGAGACACACTTGTCACACATACATCCAACAGTAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCA... | pathogenic | 175,360 |
Clinically, how would you classify the variant at chromosome 11, position 47333703, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'Primary_familial_hypertrophic_cardiomyopathy'] | TAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAG... | TAGGGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAG... | pathogenic | 175,365 |
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47333706—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | GGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGC... | GGAGGGGTTTCCCCAACTTCCCTCCAGGCTCCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGC... | pathogenic | 175,366 |
Evaluate the clinical significance of the mutation at chromosome 11, position 47333736 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAG... | CCTGGCACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAG... | pathogenic | 175,371 |
The genetic variant at chromosome 11, position 47333741, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAG... | CACGGGGCTGGCATCCGGTTGTACCTGCAACACAGGTTATCTTACGAGTGAATGGAGGGCCCCTACAGCCTCCCATTTACTGATGGCTGCCCCAGGACCAAGGGCCAGGGCTCAGCCACTGACTTGTGCCCTGGGTGTCGGGTGGTACATACCTGGCCATCCCCAGGAGCCAGCCTGGTCACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAG... | pathogenic | 175,373 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47333920, gene MYBPC3 (myosin binding protein C3): what disease(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCT... | CACTGAGGCACTGCAGAAGAGGAGGCCATGTCACTGTGTCCTCCCAGCCTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCT... | pathogenic | 175,380 |
Located at chromosome 11 position 47333968, the variant affecting gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCT... | CTTCTGGAAGCTATTGCCCATCTGGGCGTGGCAGGGTCCGTGCCCTTGCAGCCAGGGCAGGTGCTTGGCCGAGGACAACGGAGCAAAGCCCAGGGTCCCCACTGCCGCCCGCTCTTCCCATCTCCCAGGCCCTGGCCCCGAGGGCTCCTCACCTCGCACCTCCAGGCGGCACTCACACCGTGCCTCGCCCTGTAAGTTGGTGGCCCTGCAGACATAGATGCCCCCGTCAAAGGGGCAGGGCTTTCTAATCTCCAGAGTCAACACTCCCTGCTTGCTGAACATGCGGAAGCGGGCGTCTTCTCCCAGGTCCAGGCCATTCT... | pathogenic | 175,387 |
A genetic variant on chromosome 11, position 47335070, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | ATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGA... | ATGCCGAGAGCCTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGA... | pathogenic | 175,408 |
Evaluate if the mutation on chromosome 11 at position 47335081 in MYBPC3 (myosin binding protein C3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'Primary_familial_hypertrophic_cardiomyopathy'] | CTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAG... | CTCTCCTGGGTGCCCTTGGCATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAG... | pathogenic | 175,409 |
Considering the variant on chromosome 11, location 47335100, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCT... | CATCTCCACCCCTACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCT... | pathogenic | 175,411 |
Determine whether the variant at chromosome 11, position 47335112, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | TACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAG... | TACTATGGAGGGATTCAGATCAGCAGAGGGAGGGTGAGGGGTCCACGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAG... | pathogenic | 175,413 |
Is the genetic change at chromosome 11, position 47335157, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | CGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGC... | CGGTGAGGACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGC... | pathogenic | 175,418 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47335165: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | ACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTG... | ACAGTGAAGGGTAGCTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTG... | pathogenic | 175,421 |
Variant at chromosome 11, position 47335179, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGAC... | CTGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGAC... | pathogenic | 175,423 |
The chromosome 11, position 47335180 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_4'] | TGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACT... | TGCGGCCTGGGTCTGCCGGGCCTAGGCAGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACT... | pathogenic | 175,424 |
For chromosome 11, position 47335207, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypertrophic_cardiomyopathy'] | AGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCC... | AGGGTGCACGTGGGGACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCC... | pathogenic | 175,430 |
Is the genetic mutation found on chromosome 11 at position 47335221, within the gene MYBPC3 (myosin binding protein C3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCT... | GACCCCAGACCCTGGGCTCACCATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGCTCCGTGTTGCCGACATCCTGGGGTGGCTTCCACTCCAGAGCCACATTAAGACCCCAGGCGTCAGTCACCCGGAGATCCTGGGGAGGACTTGGCTTGTCTGCGGGAGACAGACCCAGTTGGGTCACCACGCCTCCTGACAGTGAGCAGGGGGTCACTGGCTCCAGGGACCACCCCACCCCTGCCAACCAGGGCCAGGCCTGCTGGGGCAGTGGACTGGAAAATGTGAGCTGTGGGTTGGGTCCCCTGGCCCCACCCT... | benign | 175,433 |
Is the genetic variant on chromosome 11, position 47335873, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCC... | CTCAGATCAGGCCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCC... | pathogenic | 175,438 |
Evaluate this variant at chromosome 11, position 47335884, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | CCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTG... | CCAGCCCTGAGACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTG... | pathogenic | 175,441 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47335894—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGC... | GACATCAGTCCACTGGATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGC... | pathogenic | 175,444 |
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