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 |
|---|---|---|---|---|---|
Considering the variant on chromosome 18, location 46524764, involving gene LOXHD1 (lipoxygenase homology PLAT domains 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | TAGAAAGAAGGAATTTGAAGAAGAACATAAAAATGTATCATATATGCCACATAGTGAATGAAAGTCCTAGAAGACAGCAATTTCCAAAACACACCAGATTAATCAGCATAAAACTTACTCAGGTAGTGTCCATAGAGTTGTAGTTTCCCACCAACTATCCATTCTTCTTGCAGCTGGGGTGGTTATGACATGGAAGGAGACATTGTTGGGTAGGTTTCTGGGGAAATCTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTTCCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCTGC... | TAGAAAGAAGGAATTTGAAGAAGAACATAAAAATGTATCATATATGCCACATAGTGAATGAAAGTCCTAGAAGACAGCAATTTCCAAAACACACCAGATTAATCAGCATAAAACTTACTCAGGTAGTGTCCATAGAGTTGTAGTTTCCCACCAACTATCCATTCTTCTTGCAGCTGGGGTGGTTATGACATGGAAGGAGACATTGTTGGGTAGGTTTCTGGGGAAATCTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTTCCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCTGC... | pathogenic | 290,183 |
Evaluate the clinical significance of the mutation at chromosome 18, position 46524842 in gene LOXHD1 (lipoxygenase homology PLAT domains 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | AATTTCCAAAACACACCAGATTAATCAGCATAAAACTTACTCAGGTAGTGTCCATAGAGTTGTAGTTTCCCACCAACTATCCATTCTTCTTGCAGCTGGGGTGGTTATGACATGGAAGGAGACATTGTTGGGTAGGTTTCTGGGGAAATCTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTTCCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCTAGCTA... | AATTTCCAAAACACACCAGATTAATCAGCATAAAACTTACTCAGGTAGTGTCCATAGAGTTGTAGTTTCCCACCAACTATCCATTCTTCTTGCAGCTGGGGTGGTTATGACATGGAAGGAGACATTGTTGGGTAGGTTTCTGGGGAAATCTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTTCCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCTAGCTA... | pathogenic | 290,189 |
Mutation at chromosome 18, position 46529293, within LOXHD1 (lipoxygenase homology PLAT domains 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | TGCCAGAGTCTGTAAATAAAGCCATGCATAAAAATGGACCTCTCAGCTGAATGCTGTACATTGCTGCTTTTACAATGCATTTACCAGGCATCAACACCAGGCGTCAACTAGGGCAGGGGACAGGTGAGCTTTCCCAAGACTTGACAACATCCAGCACAAAGAGCTACCTGCCTGCCAGACATGGTTCTAGACACTTCACATTTTTTATTCAGTTGACCTTCACAGTAACTCAAAATTAACTCTTTTTTAGGGTGGAGGAAAAGGAGGCACATAGATGTTAAGTAACTTGTCTAAGATCACACAGCTAGTAAGTGTCAGAG... | TGCCAGAGTCTGTAAATAAAGCCATGCATAAAAATGGACCTCTCAGCTGAATGCTGTACATTGCTGCTTTTACAATGCATTTACCAGGCATCAACACCAGGCGTCAACTAGGGCAGGGGACAGGTGAGCTTTCCCAAGACTTGACAACATCCAGCACAAAGAGCTACCTGCCTGCCAGACATGGTTCTAGACACTTCACATTTTTTATTCAGTTGACCTTCACAGTAACTCAAAATTAACTCTTTTTTAGGGTGGAGGAAAAGGAGGCACATAGATGTTAAGTAACTTGTCTAAGATCACACAGCTAGTAAGTGTCAGAG... | pathogenic | 290,202 |
A genetic variant on chromosome 18, position 46538245, affects the gene LOXHD1 (lipoxygenase homology PLAT domains 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | ACTGTGCTGGCCCTTGGATGTTCTCAATAACTCTTAGCTATTATTGTTCTTTTCCTGGTCAACATCTTTTCTTAGGAGGGGGCCACAGAGAGAGGAAGCGGCTTCCTCCTGAGATAGTGGCTGAGCCAGAATCAGATCCAGGGTTACCGACTCCGCAATTCAGCGTTTTACCTCCTACCTGAAAATCAATCAGAAAAGGGAAGTGCAGAGAGAGGGACACAGGTGGGCAGAGAGACAGAGGCCAGGAGACAAAGCCCTTTCATTTGTTTCCCAGCTCTCACACTCCCCCCAAATCCAGAGAGATTTGAAAAGAAAAAAAA... | ACTGTGCTGGCCCTTGGATGTTCTCAATAACTCTTAGCTATTATTGTTCTTTTCCTGGTCAACATCTTTTCTTAGGAGGGGGCCACAGAGAGAGGAAGCGGCTTCCTCCTGAGATAGTGGCTGAGCCAGAATCAGATCCAGGGTTACCGACTCCGCAATTCAGCGTTTTACCTCCTACCTGAAAATCAATCAGAAAAGGGAAGTGCAGAGAGAGGGACACAGGTGGGCAGAGAGACAGAGGCCAGGAGACAAAGCCCTTTCATTTGTTTCCCAGCTCTCACACTCCCCCCAAATCCAGAGAGATTTGAAAAGAAAAAAAA... | pathogenic | 290,211 |
Considering the variant on chromosome 18, location 46547004, involving gene LOXHD1 (lipoxygenase homology PLAT domains 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | ACACCACCTTCTCTGAGTACCTGAGCAAAGGCTCCTGAACAACTCTACAATGCCTGGAGTGCCTCATACTGAGAGTATCATGGCTGAATTTCATTGAAAGTTGGGCAAAGCCATCTTGTCCCAGATTGTTATTGGGTGGAGTCAGGGCTACCTTCACCATTAGAACAGAAAAAGAAAGCTGGCTCAGAGAAAAAGAAAATTTTTAGAAAAAAAGGAACTGCCTTTCTCGATGGGGCTAATTGCTTGCATCCTATTGAGAGACAAAAGCATAATTAGGATTCCCCTTGGAAATTTCTGCTGAGTCTTCTGGTCTCCCTGGG... | ACACCACCTTCTCTGAGTACCTGAGCAAAGGCTCCTGAACAACTCTACAATGCCTGGAGTGCCTCATACTGAGAGTATCATGGCTGAATTTCATTGAAAGTTGGGCAAAGCCATCTTGTCCCAGATTGTTATTGGGTGGAGTCAGGGCTACCTTCACCATTAGAACAGAAAAAGAAAGCTGGCTCAGAGAAAAAGAAAATTTTTAGAAAAAAAGGAACTGCCTTTCTCGATGGGGCTAATTGCTTGCATCCTATTGAGAGACAAAAGCATAATTAGGATTCCCCTTGGAAATTTCTGCTGAGTCTTCTGGTCTCCCTGGG... | pathogenic | 290,232 |
Chromosome 18, position 46560230, gene LOXHD1 (lipoxygenase homology PLAT domains 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nonsyndromic_genetic_hearing_loss'] | CACTTATTTGTAACATTTGCTTTCTCACTCTGTCATCTCTCTTGCACTCTCTCTCTTGCTGTATGTTTTTCTAAATCATTTGAAAGTAAGTGGCAGATACCATGATTCTTCATCCCTAAATTCTTCAACATGGATTTCCCAAGAACAAGGATATTCTCATATAATCACACTAGAATGATCCAATTCAGAAAACTTAACATCAACATAATGCTATTATATAATATACAGTCCATGTTCAAATTTTACCAGTTGCACAAGTTATGTAGTCCTCTATAGAAATTTTTTCCTAATCCAGAAATATGTGGCTATAATTTTTAAAG... | CACTTATTTGTAACATTTGCTTTCTCACTCTGTCATCTCTCTTGCACTCTCTCTCTTGCTGTATGTTTTTCTAAATCATTTGAAAGTAAGTGGCAGATACCATGATTCTTCATCCCTAAATTCTTCAACATGGATTTCCCAAGAACAAGGATATTCTCATATAATCACACTAGAATGATCCAATTCAGAAAACTTAACATCAACATAATGCTATTATATAATATACAGTCCATGTTCAAATTTTACCAGTTGCACAAGTTATGTAGTCCTCTATAGAAATTTTTTCCTAATCCAGAAATATGTGGCTATAATTTTTAAAG... | pathogenic | 290,252 |
Does the variant on chromosome 18 at location 46560316 affecting gene LOXHD1 (lipoxygenase homology PLAT domains 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAAGTGGCAGATACCATGATTCTTCATCCCTAAATTCTTCAACATGGATTTCCCAAGAACAAGGATATTCTCATATAATCACACTAGAATGATCCAATTCAGAAAACTTAACATCAACATAATGCTATTATATAATATACAGTCCATGTTCAAATTTTACCAGTTGCACAAGTTATGTAGTCCTCTATAGAAATTTTTTCCTAATCCAGAAATATGTGGCTATAATTTTTAAAGGAGAACACTGAAACGCAGAAATAAACTACATCCTCAAGTCAAGGGGAAGATTCTTTAAAGAAAAAGCAGGGGGCCCCTGAAATAAA... | TAAGTGGCAGATACCATGATTCTTCATCCCTAAATTCTTCAACATGGATTTCCCAAGAACAAGGATATTCTCATATAATCACACTAGAATGATCCAATTCAGAAAACTTAACATCAACATAATGCTATTATATAATATACAGTCCATGTTCAAATTTTACCAGTTGCACAAGTTATGTAGTCCTCTATAGAAATTTTTTCCTAATCCAGAAATATGTGGCTATAATTTTTAAAGGAGAACACTGAAACGCAGAAATAAACTACATCCTCAAGTCAAGGGGAAGATTCTTTAAAGAAAAAGCAGGGGGCCCCTGAAATAAA... | benign | 290,255 |
Is the chromosome 18, position 46566390 variant in LOXHD1 (lipoxygenase homology PLAT domains 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rare_genetic_deafness'] | AACAAGATCCCCATCTCTACAAAAATAAAATAAAAATAAAAATTGAGGGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGGGGATCGCTCGAGCCTGGGAGTCAAGGCTGCAATGAGTTATGATTGTGTCACTGCACTCCAGCCTGGGTGCCAGAGCAACATCCTGTCTCTAAAAACTAAATAAATAAAAATTGATAGGTATATTGTTTAAAAATATGGAGCTAAATTTTAGAGGAAAAATCTAAAGTAAGGTTGTTGGCATTGAAGAAGGGGGGTTGGGGTAAGGGGAAGAGGTAGGTAA... | AACAAGATCCCCATCTCTACAAAAATAAAATAAAAATAAAAATTGAGGGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGGGGATCGCTCGAGCCTGGGAGTCAAGGCTGCAATGAGTTATGATTGTGTCACTGCACTCCAGCCTGGGTGCCAGAGCAACATCCTGTCTCTAAAAACTAAATAAATAAAAATTGATAGGTATATTGTTTAAAAATATGGAGCTAAATTTTAGAGGAAAAATCTAAAGTAAGGTTGTTGGCATTGAAGAAGGGGGGTTGGGGTAAGGGGAAGAGGTAGGTAA... | pathogenic | 290,271 |
Benign or pathogenic: chromosome 18, position 46569443, gene LOXHD1 (lipoxygenase homology PLAT domains 1) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | GAGCTAAGTGCATGCAGCCCAGTCCCCTGGAATTATCAGAAGAAAACCAGCTAAGCTTACAAAGCCTGAGAGCCCTCTGTGTGCATGTCAAGGGACAGGGAAGAGTTTTGTTGTTCTTCTGTGGTGCCAGGACTATGAAAGTCCCAGGGAGGGATTGGCTGAAAGGGTAAAGACAGAGGTAAGTGTCTGATATGACTGGATGCTCCCTAAGGGCAGACACTAGCTCAGTTCTACAACACTTCACACCTGACATAGACTAATTGTTCAGTAGCATTTACTCAGCACTTAGTATGAGCATGTGGGTGTTATTCACATATTTA... | GAGCTAAGTGCATGCAGCCCAGTCCCCTGGAATTATCAGAAGAAAACCAGCTAAGCTTACAAAGCCTGAGAGCCCTCTGTGTGCATGTCAAGGGACAGGGAAGAGTTTTGTTGTTCTTCTGTGGTGCCAGGACTATGAAAGTCCCAGGGAGGGATTGGCTGAAAGGGTAAAGACAGAGGTAAGTGTCTGATATGACTGGATGCTCCCTAAGGGCAGACACTAGCTCAGTTCTACAACACTTCACACCTGACATAGACTAATTGTTCAGTAGCATTTACTCAGCACTTAGTATGAGCATGTGGGTGTTATTCACATATTTA... | pathogenic | 290,276 |
A genetic alteration at chromosome 18, position 46577768, in gene LOXHD1 (lipoxygenase homology PLAT domains 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | AAACTGTGAGACATTATGTTTCTGTCATTTAAGCCACCCAGTCTGTGCACTTTGTTACAGCCCTGGAACATGAACACATGCCGTCATCAACTCCCCAAAATCTCCTACTGCTCTCCCCTCCTCCCTGGGCCCTGTCCTATCCCCAGAGGCCAGACAGGCCTTCCTCGCATGCAAGAGTCTCCCTCGCCCTGCCGGACAGTGGCCTCCATCTACCTGCCTGTCTTGCTGGACTCCAGAACACTCCAGTCCTTTCCCCTGGTGCTCTCCTCTTCATTCCACAGGAGGCCAGCCTCAACATCCCTCTGCAGGCAGGCCTTTCC... | AAACTGTGAGACATTATGTTTCTGTCATTTAAGCCACCCAGTCTGTGCACTTTGTTACAGCCCTGGAACATGAACACATGCCGTCATCAACTCCCCAAAATCTCCTACTGCTCTCCCCTCCTCCCTGGGCCCTGTCCTATCCCCAGAGGCCAGACAGGCCTTCCTCGCATGCAAGAGTCTCCCTCGCCCTGCCGGACAGTGGCCTCCATCTACCTGCCTGTCTTGCTGGACTCCAGAACACTCCAGTCCTTTCCCCTGGTGCTCTCCTCTTCATTCCACAGGAGGCCAGCCTCAACATCCCTCTGCAGGCAGGCCTTTCC... | pathogenic | 290,284 |
Gene LOXHD1 (lipoxygenase homology PLAT domains 1) variant at chromosome position 46577770 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | ACTGTGAGACATTATGTTTCTGTCATTTAAGCCACCCAGTCTGTGCACTTTGTTACAGCCCTGGAACATGAACACATGCCGTCATCAACTCCCCAAAATCTCCTACTGCTCTCCCCTCCTCCCTGGGCCCTGTCCTATCCCCAGAGGCCAGACAGGCCTTCCTCGCATGCAAGAGTCTCCCTCGCCCTGCCGGACAGTGGCCTCCATCTACCTGCCTGTCTTGCTGGACTCCAGAACACTCCAGTCCTTTCCCCTGGTGCTCTCCTCTTCATTCCACAGGAGGCCAGCCTCAACATCCCTCTGCAGGCAGGCCTTTCCCA... | ACTGTGAGACATTATGTTTCTGTCATTTAAGCCACCCAGTCTGTGCACTTTGTTACAGCCCTGGAACATGAACACATGCCGTCATCAACTCCCCAAAATCTCCTACTGCTCTCCCCTCCTCCCTGGGCCCTGTCCTATCCCCAGAGGCCAGACAGGCCTTCCTCGCATGCAAGAGTCTCCCTCGCCCTGCCGGACAGTGGCCTCCATCTACCTGCCTGTCTTGCTGGACTCCAGAACACTCCAGTCCTTTCCCCTGGTGCTCTCCTCTTCATTCCACAGGAGGCCAGCCTCAACATCCCTCTGCAGGCAGGCCTTTCCCA... | pathogenic | 290,285 |
A genetic variant at chromosome 18, position 46592048, affecting gene LOXHD1 (lipoxygenase homology PLAT domains 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | ATTTAACTAAACAAAAAAGTTTTCACCAACAAGACTAGGGGAAGGCGACAAGTTTAGAGAACAACACAATTTTGGAAGCTGGAGAGCAGCTAGAAAAGTGGCAAATGCATTAACACAGTGGTTCTCAAAGTGTGGTTCCCCAACAGCAGCATAGATATTACCTGTAAATTTGTTAGGCAAGCAGATCCTTGAGTCCCATTCCAGACTAACTGAATTAGAAACTCTGCAAGTGGAGCCCAGGAATCCGTGTTTTAACAAGCCCTCCTGGGGATAATGCATGCTGAGGTTTGAGAATCGCTGACTTAGCAGACCGGAAAGGA... | ATTTAACTAAACAAAAAAGTTTTCACCAACAAGACTAGGGGAAGGCGACAAGTTTAGAGAACAACACAATTTTGGAAGCTGGAGAGCAGCTAGAAAAGTGGCAAATGCATTAACACAGTGGTTCTCAAAGTGTGGTTCCCCAACAGCAGCATAGATATTACCTGTAAATTTGTTAGGCAAGCAGATCCTTGAGTCCCATTCCAGACTAACTGAATTAGAAACTCTGCAAGTGGAGCCCAGGAATCCGTGTTTTAACAAGCCCTCCTGGGGATAATGCATGCTGAGGTTTGAGAATCGCTGACTTAGCAGACCGGAAAGGA... | pathogenic | 290,291 |
Clinical significance of chromosome 18, position 46592048, gene LOXHD1 (lipoxygenase homology PLAT domains 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77', 'Rare_genetic_deafness'] | ATTTAACTAAACAAAAAAGTTTTCACCAACAAGACTAGGGGAAGGCGACAAGTTTAGAGAACAACACAATTTTGGAAGCTGGAGAGCAGCTAGAAAAGTGGCAAATGCATTAACACAGTGGTTCTCAAAGTGTGGTTCCCCAACAGCAGCATAGATATTACCTGTAAATTTGTTAGGCAAGCAGATCCTTGAGTCCCATTCCAGACTAACTGAATTAGAAACTCTGCAAGTGGAGCCCAGGAATCCGTGTTTTAACAAGCCCTCCTGGGGATAATGCATGCTGAGGTTTGAGAATCGCTGACTTAGCAGACCGGAAAGGA... | ATTTAACTAAACAAAAAAGTTTTCACCAACAAGACTAGGGGAAGGCGACAAGTTTAGAGAACAACACAATTTTGGAAGCTGGAGAGCAGCTAGAAAAGTGGCAAATGCATTAACACAGTGGTTCTCAAAGTGTGGTTCCCCAACAGCAGCATAGATATTACCTGTAAATTTGTTAGGCAAGCAGATCCTTGAGTCCCATTCCAGACTAACTGAATTAGAAACTCTGCAAGTGGAGCCCAGGAATCCGTGTTTTAACAAGCCCTCCTGGGGATAATGCATGCTGAGGTTTGAGAATCGCTGACTTAGCAGACCGGAAAGGA... | pathogenic | 290,292 |
Chromosome 18, position 46601277, gene LOXHD1 (lipoxygenase homology PLAT domains 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | AATGATAAGAATTATCTAAACCACTTGCTAAATATCCAGATTACCTGGAAATTCTGACTCATTAGGTCTGAATTAGAGCCTAGGAATCTATTTTTATCAAGAATTCCAGGTGATTCTTAACCTTGGTCAAGTTTTAAAAGCCCTTCAATAAATGTTGCTGGAACATTTGCATATCTCCATGGAAAAAAATAAAATTGAATTTCTCCCTCACAAAATTCAATTCCTAGTATTTTAAAAATATAAATGGAAAAATTAAAACAACAATTTTTAGAAAAGGATATAGGAGAATGTCTTCATAGCTCTGAGATAAGTGGATTTCT... | AATGATAAGAATTATCTAAACCACTTGCTAAATATCCAGATTACCTGGAAATTCTGACTCATTAGGTCTGAATTAGAGCCTAGGAATCTATTTTTATCAAGAATTCCAGGTGATTCTTAACCTTGGTCAAGTTTTAAAAGCCCTTCAATAAATGTTGCTGGAACATTTGCATATCTCCATGGAAAAAAATAAAATTGAATTTCTCCCTCACAAAATTCAATTCCTAGTATTTTAAAAATATAAATGGAAAAATTAAAACAACAATTTTTAGAAAAGGATATAGGAGAATGTCTTCATAGCTCTGAGATAAGTGGATTTCT... | pathogenic | 290,306 |
The mutation in gene LOXHD1 (lipoxygenase homology PLAT domains 1) at chromosome 18, position 46604118—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nonsyndromic_genetic_hearing_loss'] | ACATGGAATTCTGAGGAAGAACTAGCAAAGGGAGATTAAACTCTGGGACTGGGCGAAGTAAAAGAAAATACCAAAGACAAACATTTGGACAGGCAATTCTACTAAGGACTGGCCTGGCCTAGATTTTTTTATTTTATTTATTTTTTATTTTTTTGAGACAGAGTCTCACTCTATCACCCAGGCTGGAATCTAGTGGTGTGATCTCAGTTCACTGCAACCTCTACTTCCCAGGCTCAAGCGATTCTCGTGTCTCAGCCTCCTGAGTGGCTGGGATTACAGACATGTGCCACCACACCTGGTTAATTTTTGTATTTTTAGTA... | ACATGGAATTCTGAGGAAGAACTAGCAAAGGGAGATTAAACTCTGGGACTGGGCGAAGTAAAAGAAAATACCAAAGACAAACATTTGGACAGGCAATTCTACTAAGGACTGGCCTGGCCTAGATTTTTTTATTTTATTTATTTTTTATTTTTTTGAGACAGAGTCTCACTCTATCACCCAGGCTGGAATCTAGTGGTGTGATCTCAGTTCACTGCAACCTCTACTTCCCAGGCTCAAGCGATTCTCGTGTCTCAGCCTCCTGAGTGGCTGGGATTACAGACATGTGCCACCACACCTGGTTAATTTTTGTATTTTTAGTA... | pathogenic | 290,315 |
Is the genetic mutation found on chromosome 18 at position 46618188, within the gene LOXHD1 (lipoxygenase homology PLAT domains 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | GCTGACTCTGTTCTATTTATTAATACATTTGTTTTACTTTTGCTATTAGCCATGCTTTTTCTTTGCTTCCCTTTCTTCATTTCCTTCCTTCGATTGGATTGATTCTTTATTCCCTTTTATGTCTTCCTTTGGTTTTCAAATTATACATTTCTGTTTTGGGGTGGTTACTTTTACAATTTTGATATGCATACTTATTAAAATCTACAGTTAATCATTATCCCTACTCTCCTGGGAATGGGGAGATCAGCAGGGGCCAAGACCCTTACTATGTCTTAACTCTCATCATCCACTTTCCTTCTCAAATATTATTGATTTTAATT... | GCTGACTCTGTTCTATTTATTAATACATTTGTTTTACTTTTGCTATTAGCCATGCTTTTTCTTTGCTTCCCTTTCTTCATTTCCTTCCTTCGATTGGATTGATTCTTTATTCCCTTTTATGTCTTCCTTTGGTTTTCAAATTATACATTTCTGTTTTGGGGTGGTTACTTTTACAATTTTGATATGCATACTTATTAAAATCTACAGTTAATCATTATCCCTACTCTCCTGGGAATGGGGAGATCAGCAGGGGCCAAGACCCTTACTATGTCTTAACTCTCATCATCCACTTTCCTTCTCAAATATTATTGATTTTAATT... | pathogenic | 290,321 |
Gene LOXHD1 (lipoxygenase homology PLAT domains 1) variant at chromosome position 46639638 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | GGCAAAAAATTCTTTCTCTCTCTCTCTCATACTCACACACAAACACACACACACACATAAAAATTGCCAATAAATGTATGAAAAAAGTTCAACCTCACCAGTAATCAAAGAAAGGACATCAAAAATCCCCTTTAATTATCCAACTGGATAATCAAACAATACTACCAAATGTTGGCAAGGGTGAGGGACATGGGCACCCTTACACAGCTGGTAATACTGTGCAAAGATACACCCTATCTAGAGCAATTCAGAAATGTCCCTCAAAAGCTTTAAGCATGTACATTCCACTTGACTTAGAAATTCCACTTAGGAGTTTATCT... | GGCAAAAAATTCTTTCTCTCTCTCTCTCATACTCACACACAAACACACACACACACATAAAAATTGCCAATAAATGTATGAAAAAAGTTCAACCTCACCAGTAATCAAAGAAAGGACATCAAAAATCCCCTTTAATTATCCAACTGGATAATCAAACAATACTACCAAATGTTGGCAAGGGTGAGGGACATGGGCACCCTTACACAGCTGGTAATACTGTGCAAAGATACACCCTATCTAGAGCAATTCAGAAATGTCCCTCAAAAGCTTTAAGCATGTACATTCCACTTGACTTAGAAATTCCACTTAGGAGTTTATCT... | pathogenic | 290,323 |
A genetic variant at chromosome 18, position 46656962, affecting gene LOXHD1 (lipoxygenase homology PLAT domains 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_77'] | ACAAGACCAAGGACCAGCCAGACCAGCTGGATTCAAATCCTAACTCTGCTATTTGCTAGCTGTGTGATCTTGGGCAAGTTACTTAACTTCTCTGTGCTTCAGATTCCTCATCTGAAAAAAAAGGATAACACATCTGCTGCAATGTGTCATCATGAAGATGAAATTAGTTAACATGAATAAAGTGCTTAACTCAGTGCCTGGTGCATGGTGCATGATCCTATTTGGCAGCATCATGAGATGAAATGGGGCGCTTGCCTCGAAAAAGATATTTGAGGTTCTTGTTGTCCATCCTGTTTGTGACCTTGCTCAAGTCACTTAAT... | ACAAGACCAAGGACCAGCCAGACCAGCTGGATTCAAATCCTAACTCTGCTATTTGCTAGCTGTGTGATCTTGGGCAAGTTACTTAACTTCTCTGTGCTTCAGATTCCTCATCTGAAAAAAAAGGATAACACATCTGCTGCAATGTGTCATCATGAAGATGAAATTAGTTAACATGAATAAAGTGCTTAACTCAGTGCCTGGTGCATGGTGCATGATCCTATTTGGCAGCATCATGAGATGAAATGGGGCGCTTGCCTCGAAAAAGATATTTGAGGTTCTTGTTGTCCATCCTGTTTGTGACCTTGCTCAAGTCACTTAAT... | pathogenic | 290,333 |
Evaluate the clinical significance of the mutation at chromosome 18, position 47848704 in gene SMAD2 (SMAD family member 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCAGGAGGCATCTAGGAGCTGAATTCTGCCACAACCATGTGGGTTTAGAAGAGGACCTCAAGCTCCAGATAAGAACACAAGCCAGCTGATACCTCAATTTTGGCCTTGTTAAACCCTGAAAAGACCGCCTAACCCATGTCTGGACTCCTGACCCACAGAAACCGTGAGGTAAAAAACTGATGTTTTAGGCCACTGAGTTTGTGGTAATTTGTTACACAGCAAAAGAAAACTAATCAAACAACTAACACTCCAGATTTAATACAGAACCTGGTACGGTGGTTCTGTTAAGACTATGGAATATCTGTAAAACAGTCATGCAC... | TCAGGAGGCATCTAGGAGCTGAATTCTGCCACAACCATGTGGGTTTAGAAGAGGACCTCAAGCTCCAGATAAGAACACAAGCCAGCTGATACCTCAATTTTGGCCTTGTTAAACCCTGAAAAGACCGCCTAACCCATGTCTGGACTCCTGACCCACAGAAACCGTGAGGTAAAAAACTGATGTTTTAGGCCACTGAGTTTGTGGTAATTTGTTACACAGCAAAAGAAAACTAATCAAACAACTAACACTCCAGATTTAATACAGAACCTGGTACGGTGGTTCTGTTAAGACTATGGAATATCTGTAAAACAGTCATGCAC... | benign | 290,384 |
The genetic variant at chromosome 18, position 47865048, affecting gene SMAD2 (SMAD family member 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | GAAAAAAGTAACAAGTGCTTGTTCGTACACTTACTTATTATGCCTAATTTATCCTCTGGTTGCCCTTTTAAAAAATTTCAATTCATTATTTTTAACAGCAGGTTATGAAAGATGAATTTAATTATGTCCTTCCTTCTGGAAGGTATGAACCAGAGTTAGAGAGGTGGCCAACTTTGTTCTAAATTGGAGCCCTGCATCAGTCAGAATTGTTTCTTGCCATGGCCCCAAGAGAGAAACTGATATTGGGTAAGAGGCTGGCAGCCAAACTAACTGTTGGCATCTCATGAATCACATATTCCCATTGCCATACAGTAATTTTT... | GAAAAAAGTAACAAGTGCTTGTTCGTACACTTACTTATTATGCCTAATTTATCCTCTGGTTGCCCTTTTAAAAAATTTCAATTCATTATTTTTAACAGCAGGTTATGAAAGATGAATTTAATTATGTCCTTCCTTCTGGAAGGTATGAACCAGAGTTAGAGAGGTGGCCAACTTTGTTCTAAATTGGAGCCCTGCATCAGTCAGAATTGTTTCTTGCCATGGCCCCAAGAGAGAAACTGATATTGGGTAAGAGGCTGGCAGCCAAACTAACTGTTGGCATCTCATGAATCACATATTCCCATTGCCATACAGTAATTTTT... | benign | 290,390 |
Assess the variant on chromosome 18, position 47868472, impacting SMAD2 (SMAD family member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TATCAAACTTTTCATTTAAGTGTCAGTACCCCCAAATTTTTAAAACAAAAATTCTAAGAATAAATTATCTTCATATACTCAAAGAACATAAAAATAAGGGTACATATTATGCATATTTTAAAAGTTAAAGCTAATAAAGTTAAACGGCGCTAAGCTTTTTGAGTTTAACCTGTATTTCAAAGATCTAATCAGAAAGAAATGCTGAACCTTAAAATACGTTATCTTACTGTGTTTATTTTTTCCATTATTGTAATAAATAATAAAGCTATTAGCATTTTTGAGAAAATGTTAAAATTTCTTTTAAGTGGAATAAAATGTGA... | TATCAAACTTTTCATTTAAGTGTCAGTACCCCCAAATTTTTAAAACAAAAATTCTAAGAATAAATTATCTTCATATACTCAAAGAACATAAAAATAAGGGTACATATTATGCATATTTTAAAAGTTAAAGCTAATAAAGTTAAACGGCGCTAAGCTTTTTGAGTTTAACCTGTATTTCAAAGATCTAATCAGAAAGAAATGCTGAACCTTAAAATACGTTATCTTACTGTGTTTATTTTTTCCATTATTGTAATAAATAATAAAGCTATTAGCATTTTTGAGAAAATGTTAAAATTTCTTTTAAGTGGAATAAAATGTGA... | benign | 290,403 |
Variant at chromosome 18, position 49044186, gene DYM: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Dyggve-Melchior-Clausen_syndrome'] | GGCTCTGCCACAAAGCTAAGTATTAGTAGAAGTTGTTGCCAAGCCTCACCTCTAGCCTGTACATGGGCTCTGAGGTGAACACAGGAGTCAGAGTCCCCACTCCAGCAGTGACTGGAGGAGGCCTGACAGAACAAGCCCCTTGGGGACAGGAGGCAAGCTGCACTCACCTCTGGGACCCCACCCGGGATGGGCGCTCCACGAGTCCCTTGGCCTTAGGGAACCTCTGTTTCATTCCATCCAGACGAGGATAGGGAAGCTTCCTGCCCTACCTCGACAGCCTCTAAGAGCACAGCTTGGCCAGGCCTTCCCGTGTGGAGCCC... | GGCTCTGCCACAAAGCTAAGTATTAGTAGAAGTTGTTGCCAAGCCTCACCTCTAGCCTGTACATGGGCTCTGAGGTGAACACAGGAGTCAGAGTCCCCACTCCAGCAGTGACTGGAGGAGGCCTGACAGAACAAGCCCCTTGGGGACAGGAGGCAAGCTGCACTCACCTCTGGGACCCCACCCGGGATGGGCGCTCCACGAGTCCCTTGGCCTTAGGGAACCTCTGTTTCATTCCATCCAGACGAGGATAGGGAAGCTTCCTGCCCTACCTCGACAGCCTCTAAGAGCACAGCTTGGCCAGGCCTTCCCGTGTGGAGCCC... | pathogenic | 290,427 |
Is the genetic mutation found on chromosome 18 at position 49430272, within the gene DYM (dymeclin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GAGGATTTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACAGAGCAAGACCCCATCTCTAAAAAGGTAGAAGAAAAAAAAAGAAAGAAGCCAGTCACAAAAGACCACCTATTGTTACAATTTCATTTACATGAAACGTCTAGAAGAGGCAAAGTTAGTAGTAGTTATTAAATTAGTGGCTGGACGCAGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGACATCTCATCTCCACAAAAAATACAAAAATTAGCCAT... | GAGGATTTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACAGAGCAAGACCCCATCTCTAAAAAGGTAGAAGAAAAAAAAAGAAAGAAGCCAGTCACAAAAGACCACCTATTGTTACAATTTCATTTACATGAAACGTCTAGAAGAGGCAAAGTTAGTAGTAGTTATTAAATTAGTGGCTGGACGCAGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGACATCTCATCTCCACAAAAAATACAAAAATTAGCCAT... | pathogenic | 290,451 |
Evaluate this variant at chromosome 18, position 49826361, gene MYO5B: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CCTTTATCTTTTGGAAGAGAAGAACTAAATCTGCCATTTCTTAGGCTAAATGGACTATTCATAAGGTCCTTCCCTCCCCATTTATTCTAATTGCCAAGCTTTTATTCAGTAAGCTCTTGGCACCTAGTGATTAACCAGTGACAGCAGAGAGTAGTGACCAAGAGAGATGGAGAGAATGATGGTATAAGACAGTGTATAAGGATAGTAAGCCACTGTGTTTGTGGAACCACTGCATGTCAAAACTCCTTAACACTCTAACAAGGCATTTTTGGTCTTTTAAGGATGGTCCTTACATAAGAGACTCACTTTCAAACTAAAGT... | CCTTTATCTTTTGGAAGAGAAGAACTAAATCTGCCATTTCTTAGGCTAAATGGACTATTCATAAGGTCCTTCCCTCCCCATTTATTCTAATTGCCAAGCTTTTATTCAGTAAGCTCTTGGCACCTAGTGATTAACCAGTGACAGCAGAGAGTAGTGACCAAGAGAGATGGAGAGAATGATGGTATAAGACAGTGTATAAGGATAGTAAGCCACTGTGTTTGTGGAACCACTGCATGTCAAAACTCCTTAACACTCTAACAAGGCATTTTTGGTCTTTTAAGGATGGTCCTTACATAAGAGACTCACTTTCAAACTAAAGT... | benign | 290,475 |
Mutation found at chromosome 18 position 49837749, gene MYO5B: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_microvillous_atrophy'] | GAGTTTAGAATGCAGTTGCCTGAAATCCTCAGCCTCATATCTACTAGTAATTTAAAGGTTTCTTCTGAAGAGTACTGGAGATCTTACCTTAGATGAGAAAGGTCTTGTTTAATACCTAACTACCCCCTGTCCCCCAACATTGTTTACAAATGAGTATTTGAACAGGAGATACTCTTTTGTCTGCCTACCACTGGTTTGGTGGAAGTAGACTGCCCAAATGCAATGCCAGCTGCATCTAGAAGGAAACTTACTTTAAGTGAAATGTATTTAAAGAGAAGAAAAATGTTTGAAGACTTTCTGGAAATGTTTACAGAAGGAAG... | GAGTTTAGAATGCAGTTGCCTGAAATCCTCAGCCTCATATCTACTAGTAATTTAAAGGTTTCTTCTGAAGAGTACTGGAGATCTTACCTTAGATGAGAAAGGTCTTGTTTAATACCTAACTACCCCCTGTCCCCCAACATTGTTTACAAATGAGTATTTGAACAGGAGATACTCTTTTGTCTGCCTACCACTGGTTTGGTGGAAGTAGACTGCCCAAATGCAATGCCAGCTGCATCTAGAAGGAAACTTACTTTAAGTGAAATGTATTTAAAGAGAAGAAAAATGTTTGAAGACTTTCTGGAAATGTTTACAGAAGGAAG... | pathogenic | 290,486 |
Variant on chromosome 18, at position 49879055, affecting MYO5B (myosin VB): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACTGTTTCTCTAGCACTGACCAGCAGATCCTGCACAAAGAACTGCTCCAAACCCATTTGTTTTTATTCTGTCTCTCCTCCATGTTATTTCCACATACTTTACAAGGTTCTGTGTGTACGTGCGCGCACACACACGCGCGCATGTGCCTGTGATTTTCTTTTCAAATGCCAGAGGAAAAATTGTATCTTTTGTACCTTTGACAAAATTATACAAAGACCACACAGTCCACTGTGTGGTATATTTAGTGACTGACTAAGAGGCTATTACCAACAAAGATACAGTCACCCAGCATACTTTCATTCCAAATATTTTTTGTTGTT... | ACTGTTTCTCTAGCACTGACCAGCAGATCCTGCACAAAGAACTGCTCCAAACCCATTTGTTTTTATTCTGTCTCTCCTCCATGTTATTTCCACATACTTTACAAGGTTCTGTGTGTACGTGCGCGCACACACACGCGCGCATGTGCCTGTGATTTTCTTTTCAAATGCCAGAGGAAAAATTGTATCTTTTGTACCTTTGACAAAATTATACAAAGACCACACAGTCCACTGTGTGGTATATTTAGTGACTGACTAAGAGGCTATTACCAACAAAGATACAGTCACCCAGCATACTTTCATTCCAAATATTTTTTGTTGTT... | benign | 290,521 |
Does the genetic variant at chromosome 18, position 49929610, impacting gene MYO5B (myosin VB), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TGGAACAGAACTGAGAACCCAGAAATAAGACCAAATACTGACAGTCAACTGATCTTTGACAAAGCAAAAACAAAAAGTGGGTAAAGGACACTCTATTCGATAAATGGGGCTGGGATAATTGGCTAGCCACATGTAGAAGAATGAAACTGGATCCTCATCTCTTACTCTCTACAAAAATCAACTCAAGATGGATCAAAGACTTAAATCTAAGACCTGAAACCATAAAAACTCTAGAAGGTAACATTGGGAAAACCCTTCTAGACATTGGCTTGGGCAACGACTTCATGACCAAGAACCCAAAAGCAAACACAATGAAAACA... | TGGAACAGAACTGAGAACCCAGAAATAAGACCAAATACTGACAGTCAACTGATCTTTGACAAAGCAAAAACAAAAAGTGGGTAAAGGACACTCTATTCGATAAATGGGGCTGGGATAATTGGCTAGCCACATGTAGAAGAATGAAACTGGATCCTCATCTCTTACTCTCTACAAAAATCAACTCAAGATGGATCAAAGACTTAAATCTAAGACCTGAAACCATAAAAACTCTAGAAGGTAACATTGGGAAAACCCTTCTAGACATTGGCTTGGGCAACGACTTCATGACCAAGAACCCAAAAGCAAACACAATGAAAACA... | benign | 290,544 |
Is the variant located on chromosome 18 at position 49929610, gene MYO5B (myosin VB), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGGAACAGAACTGAGAACCCAGAAATAAGACCAAATACTGACAGTCAACTGATCTTTGACAAAGCAAAAACAAAAAGTGGGTAAAGGACACTCTATTCGATAAATGGGGCTGGGATAATTGGCTAGCCACATGTAGAAGAATGAAACTGGATCCTCATCTCTTACTCTCTACAAAAATCAACTCAAGATGGATCAAAGACTTAAATCTAAGACCTGAAACCATAAAAACTCTAGAAGGTAACATTGGGAAAACCCTTCTAGACATTGGCTTGGGCAACGACTTCATGACCAAGAACCCAAAAGCAAACACAATGAAAACA... | TGGAACAGAACTGAGAACCCAGAAATAAGACCAAATACTGACAGTCAACTGATCTTTGACAAAGCAAAAACAAAAAGTGGGTAAAGGACACTCTATTCGATAAATGGGGCTGGGATAATTGGCTAGCCACATGTAGAAGAATGAAACTGGATCCTCATCTCTTACTCTCTACAAAAATCAACTCAAGATGGATCAAAGACTTAAATCTAAGACCTGAAACCATAAAAACTCTAGAAGGTAACATTGGGAAAACCCTTCTAGACATTGGCTTGGGCAACGACTTCATGACCAAGAACCCAAAAGCAAACACAATGAAAACA... | benign | 290,545 |
Evaluate the clinical significance of the mutation at chromosome 18, position 49962348 in gene MYO5B (myosin VB): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_microvillous_atrophy'] | AAAGTATCTGAGAGACAGGGAAGAAAGGACGTGTCTGAGGCTGCTTCCACAGCCCAACAGGATCCTTCCCAAGGAGCACCGCGTTGCCCAGCCACGGCAAACCCAGGGGGATTCCCTAACCTCCTCAGGCTCAGAGACATGGGTGCTTCCAGGCCCTACTATGTTTTAAAGTCAGGTTCATTGCAGAATAATTTCCATGCAGTAAAATGCACCCTTTCACTGAAGCATACAGTTCAGTGAGTTTTGACAAATGTAATAACACCTGTTGGCTTAAAATCCACCTGTTACTGATGCTCTATCAGACTATGCTAAATCATCCT... | AAAGTATCTGAGAGACAGGGAAGAAAGGACGTGTCTGAGGCTGCTTCCACAGCCCAACAGGATCCTTCCCAAGGAGCACCGCGTTGCCCAGCCACGGCAAACCCAGGGGGATTCCCTAACCTCCTCAGGCTCAGAGACATGGGTGCTTCCAGGCCCTACTATGTTTTAAAGTCAGGTTCATTGCAGAATAATTTCCATGCAGTAAAATGCACCCTTTCACTGAAGCATACAGTTCAGTGAGTTTTGACAAATGTAATAACACCTGTTGGCTTAAAATCCACCTGTTACTGATGCTCTATCAGACTATGCTAAATCATCCT... | pathogenic | 290,561 |
Mutation found at chromosome 18 position 49963005, gene MYO5B (myosin VB): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_microvillous_atrophy'] | GAGGCCTGGGTTGGACACAAGACATGGCGCTGCCTTTAGCTTCGGGGGTATGGAGCTGGAGGAGACGGTTACTGATGGGAATCTCAAAAGAGACTGGGGAAAAGGAGCATGACCTTGGCTGAGTTTGGGAAGGGAGGTGGTAGTAGTGGATGCTGAAACCAAGAAAATAAAAGTGAATCATGAACAGCAGGATGGCCTAGGCTGTGACTTCAGCCATTTAGCCAATGCTACTCAATCTAGGGACAATTGTTTTACCTTTACTGCTACCCCTCAGGTTAGGCAAGCCTGGACAAACACTTGCTACACTGAGAGATTATCTC... | GAGGCCTGGGTTGGACACAAGACATGGCGCTGCCTTTAGCTTCGGGGGTATGGAGCTGGAGGAGACGGTTACTGATGGGAATCTCAAAAGAGACTGGGGAAAAGGAGCATGACCTTGGCTGAGTTTGGGAAGGGAGGTGGTAGTAGTGGATGCTGAAACCAAGAAAATAAAAGTGAATCATGAACAGCAGGATGGCCTAGGCTGTGACTTCAGCCATTTAGCCAATGCTACTCAATCTAGGGACAATTGTTTTACCTTTACTGCTACCCCTCAGGTTAGGCAAGCCTGGACAAACACTTGCTACACTGAGAGATTATCTC... | pathogenic | 290,562 |
The chromosome 18, position 51047193 genetic variant in gene SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | AACTGTAACGGAATGTAGGGATAGTGAAGGAAAGAGGCACGTCAGAGATCTTTTGCAAAGCTTCCCAAGGCTAGGTAATTGAGTGGAATTGATACTTTAACAAAGGTCTTCAGAAGAGGAAGAGATTTTGGTAGAATGATGAGTTTTATTAATCTTGTGGGAGGATACTTTAAGGATTCAAGTATGCAGTAAAAGAAAATGAAAGCAAGATAAGTCTGGAATGCAACTTCAGTGAACAAATAAAATACAAACAAGCACACAAAGTACAGGCTCCAGTCCTGCTTTATCTTCTTTATTCTTAAGCTAATGGCCTTTTCCTA... | AACTGTAACGGAATGTAGGGATAGTGAAGGAAAGAGGCACGTCAGAGATCTTTTGCAAAGCTTCCCAAGGCTAGGTAATTGAGTGGAATTGATACTTTAACAAAGGTCTTCAGAAGAGGAAGAGATTTTGGTAGAATGATGAGTTTTATTAATCTTGTGGGAGGATACTTTAAGGATTCAAGTATGCAGTAAAAGAAAATGAAAGCAAGATAAGTCTGGAATGCAACTTCAGTGAACAAATAAAATACAAACAAGCACACAAAGTACAGGCTCCAGTCCTGCTTTATCTTCTTTATTCTTAAGCTAATGGCCTTTTCCTA... | pathogenic | 290,647 |
The mutation impacting SMAD4 (SMAD family member 4) on chromosome 18 at position 51047308: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GAGGAAGAGATTTTGGTAGAATGATGAGTTTTATTAATCTTGTGGGAGGATACTTTAAGGATTCAAGTATGCAGTAAAAGAAAATGAAAGCAAGATAAGTCTGGAATGCAACTTCAGTGAACAAATAAAATACAAACAAGCACACAAAGTACAGGCTCCAGTCCTGCTTTATCTTCTTTATTCTTAAGCTAATGGCCTTTTCCTATTCTCTGTGGGGTCTTGGGATCAGATAAGTTAGTTTTCTACCTGTTGAATGGATTCTTTATTAATCTTCAGTTTTTGTTATTTTAATTTTTTTGAAAATAATTTACCCTGCTGCT... | GAGGAAGAGATTTTGGTAGAATGATGAGTTTTATTAATCTTGTGGGAGGATACTTTAAGGATTCAAGTATGCAGTAAAAGAAAATGAAAGCAAGATAAGTCTGGAATGCAACTTCAGTGAACAAATAAAATACAAACAAGCACACAAAGTACAGGCTCCAGTCCTGCTTTATCTTCTTTATTCTTAAGCTAATGGCCTTTTCCTATTCTCTGTGGGGTCTTGGGATCAGATAAGTTAGTTTTCTACCTGTTGAATGGATTCTTTATTAATCTTCAGTTTTTGTTATTTTAATTTTTTTGAAAATAATTTACCCTGCTGCT... | benign | 290,661 |
The genetic variant at chromosome 18, position 51047311, affecting gene SMAD4 (SMAD family member 4): benign or pathogenic? Disease name(s) if pathogenic? | benign | GAAGAGATTTTGGTAGAATGATGAGTTTTATTAATCTTGTGGGAGGATACTTTAAGGATTCAAGTATGCAGTAAAAGAAAATGAAAGCAAGATAAGTCTGGAATGCAACTTCAGTGAACAAATAAAATACAAACAAGCACACAAAGTACAGGCTCCAGTCCTGCTTTATCTTCTTTATTCTTAAGCTAATGGCCTTTTCCTATTCTCTGTGGGGTCTTGGGATCAGATAAGTTAGTTTTCTACCTGTTGAATGGATTCTTTATTAATCTTCAGTTTTTGTTATTTTAATTTTTTTGAAAATAATTTACCCTGCTGCTTTT... | GAAGAGATTTTGGTAGAATGATGAGTTTTATTAATCTTGTGGGAGGATACTTTAAGGATTCAAGTATGCAGTAAAAGAAAATGAAAGCAAGATAAGTCTGGAATGCAACTTCAGTGAACAAATAAAATACAAACAAGCACACAAAGTACAGGCTCCAGTCCTGCTTTATCTTCTTTATTCTTAAGCTAATGGCCTTTTCCTATTCTCTGTGGGGTCTTGGGATCAGATAAGTTAGTTTTCTACCTGTTGAATGGATTCTTTATTAATCTTCAGTTTTTGTTATTTTAATTTTTTTGAAAATAATTTACCCTGCTGCTTTT... | benign | 290,664 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 51048695, gene SMAD4 (SMAD family member 4): what disease(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GCATGCCACTATCATAATGAGAAGACCTAACTTTAATATTTTTGGAATGTCAAAAACAGTGACATTTTAATTAAGTAATTTTATTTTTAAAAATTATTTTTAATGGCTAATATTTTGTAAGAATTTTAAGTAATTTTCAACTCTGAGCATCAAATTTTAATTATGTGCATTGAATCTCTGACTTAACCAGAGCAATTTCATCTTTTCCCAAGTAGTCAGATCTACTTCGTAAAATGTGTTCTGATGTGTGTCTTTTTTTTTTTTCTTTTTTAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGT... | GCATGCCACTATCATAATGAGAAGACCTAACTTTAATATTTTTGGAATGTCAAAAACAGTGACATTTTAATTAAGTAATTTTATTTTTAAAAATTATTTTTAATGGCTAATATTTTGTAAGAATTTTAAGTAATTTTCAACTCTGAGCATCAAATTTTAATTATGTGCATTGAATCTCTGACTTAACCAGAGCAATTTCATCTTTTCCCAAGTAGTCAGATCTACTTCGTAAAATGTGTTCTGATGTGTGTCTTTTTTTTTTTTCTTTTTTAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGT... | pathogenic | 290,674 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 51048710, gene SMAD4 (SMAD family member 4). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | AATGAGAAGACCTAACTTTAATATTTTTGGAATGTCAAAAACAGTGACATTTTAATTAAGTAATTTTATTTTTAAAAATTATTTTTAATGGCTAATATTTTGTAAGAATTTTAAGTAATTTTCAACTCTGAGCATCAAATTTTAATTATGTGCATTGAATCTCTGACTTAACCAGAGCAATTTCATCTTTTCCCAAGTAGTCAGATCTACTTCGTAAAATGTGTTCTGATGTGTGTCTTTTTTTTTTTTCTTTTTTAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTGTTTTTCACTGTTT... | AATGAGAAGACCTAACTTTAATATTTTTGGAATGTCAAAAACAGTGACATTTTAATTAAGTAATTTTATTTTTAAAAATTATTTTTAATGGCTAATATTTTGTAAGAATTTTAAGTAATTTTCAACTCTGAGCATCAAATTTTAATTATGTGCATTGAATCTCTGACTTAACCAGAGCAATTTCATCTTTTCCCAAGTAGTCAGATCTACTTCGTAAAATGTGTTCTGATGTGTGTCTTTTTTTTTTTTCTTTTTTAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTGTTTTTCACTGTTT... | pathogenic | 290,677 |
Clinically, how would you classify the variant at chromosome 18, position 51048806, gene SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Myhre_syndrome'] | ATTTTGTAAGAATTTTAAGTAATTTTCAACTCTGAGCATCAAATTTTAATTATGTGCATTGAATCTCTGACTTAACCAGAGCAATTTCATCTTTTCCCAAGTAGTCAGATCTACTTCGTAAAATGTGTTCTGATGTGTGTCTTTTTTTTTTTTCTTTTTTAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTGTTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAATGGACAATATGTCTATTACGAATACACCAA... | ATTTTGTAAGAATTTTAAGTAATTTTCAACTCTGAGCATCAAATTTTAATTATGTGCATTGAATCTCTGACTTAACCAGAGCAATTTCATCTTTTCCCAAGTAGTCAGATCTACTTCGTAAAATGTGTTCTGATGTGTGTCTTTTTTTTTTTTCTTTTTTAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTGTTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAATGGACAATATGTCTATTACGAATACACCAA... | pathogenic | 290,697 |
Variant on chromosome 18, at position 51048870, affecting SMAD4 (SMAD family member 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTCTGACTTAACCAGAGCAATTTCATCTTTTCCCAAGTAGTCAGATCTACTTCGTAAAATGTGTTCTGATGTGTGTCTTTTTTTTTTTTCTTTTTTAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTGTTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAATGGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGAGAGAG... | CTCTGACTTAACCAGAGCAATTTCATCTTTTCCCAAGTAGTCAGATCTACTTCGTAAAATGTGTTCTGATGTGTGTCTTTTTTTTTTTTCTTTTTTAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTGTTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAATGGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGAGAGAG... | benign | 290,712 |
Mutation at chromosome 18, position 51049295, within SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | TCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTTAGTCTTATAAGAGTTTTTCTATACCCTCTATGGTGGCAGATTTAAAAACTTGCTACGTTTCCTTTCAAGCTACTACAGGGTAATTTAATTTGTGCTCCATCTCTTCAGATACTGTGCATCCTGTACAAATATGCATTATGGGAATTTCTGGAAGAATATGCAAAAGATAAAATCTTAAAGTTTTTTAATGTTCTACTCAGAAAAATGTTCAATGGAGAAAATTTGGAAAATAAAAATAAAAAGCAGAAAACCCACACTTCGCAAGAAC... | TCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTTAGTCTTATAAGAGTTTTTCTATACCCTCTATGGTGGCAGATTTAAAAACTTGCTACGTTTCCTTTCAAGCTACTACAGGGTAATTTAATTTGTGCTCCATCTCTTCAGATACTGTGCATCCTGTACAAATATGCATTATGGGAATTTCTGGAAGAATATGCAAAAGATAAAATCTTAAAGTTTTTTAATGTTCTACTCAGAAAAATGTTCAATGGAGAAAATTTGGAAAATAAAAATAAAAAGCAGAAAACCCACACTTCGCAAGAAC... | pathogenic | 290,717 |
Determine whether the variant at chromosome 18, position 51054909, in gene SMAD4 (SMAD family member 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TTTTAAACATGCATATGATCATAGTGTACAATAGTGCTTTGTAACTTGCTTTGATTCTCTTGGCAAAAATATATTGCAGACTTCTATCCTTGTTGATACCTTTAGTTTTACCTGAGAAACATTTATTATGGATTATCTGGGGTTAAAGAGATCTGTAGACCAGTAGAAGTTTCAAACTTACATTTGGGAAGTTTAGCCAGCATATTTAGGGCAAGAAAGATTTATGGGTCATAACTGTTTAAAAGCAGAATACAGTTGGTACATAAAGATGTTATGATTGCTGATTAAACTGAAGAGTCATCTGAAAAGCAAAAGCAGTG... | TTTTAAACATGCATATGATCATAGTGTACAATAGTGCTTTGTAACTTGCTTTGATTCTCTTGGCAAAAATATATTGCAGACTTCTATCCTTGTTGATACCTTTAGTTTTACCTGAGAAACATTTATTATGGATTATCTGGGGTTAAAGAGATCTGTAGACCAGTAGAAGTTTCAAACTTACATTTGGGAAGTTTAGCCAGCATATTTAGGGCAAGAAAGATTTATGGGTCATAACTGTTTAAAAGCAGAATACAGTTGGTACATAAAGATGTTATGATTGCTGATTAAACTGAAGAGTCATCTGAAAAGCAAAAGCAGTG... | pathogenic | 290,751 |
The mutation impacting SMAD4 (SMAD family member 4) on chromosome 18 at position 51054944: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GCTTTGTAACTTGCTTTGATTCTCTTGGCAAAAATATATTGCAGACTTCTATCCTTGTTGATACCTTTAGTTTTACCTGAGAAACATTTATTATGGATTATCTGGGGTTAAAGAGATCTGTAGACCAGTAGAAGTTTCAAACTTACATTTGGGAAGTTTAGCCAGCATATTTAGGGCAAGAAAGATTTATGGGTCATAACTGTTTAAAAGCAGAATACAGTTGGTACATAAAGATGTTATGATTGCTGATTAAACTGAAGAGTCATCTGAAAAGCAAAAGCAGTGAGTACCAAGTTGACCAGTTGTATCCTCAAATCAGC... | GCTTTGTAACTTGCTTTGATTCTCTTGGCAAAAATATATTGCAGACTTCTATCCTTGTTGATACCTTTAGTTTTACCTGAGAAACATTTATTATGGATTATCTGGGGTTAAAGAGATCTGTAGACCAGTAGAAGTTTCAAACTTACATTTGGGAAGTTTAGCCAGCATATTTAGGGCAAGAAAGATTTATGGGTCATAACTGTTTAAAAGCAGAATACAGTTGGTACATAAAGATGTTATGATTGCTGATTAAACTGAAGAGTCATCTGAAAAGCAAAAGCAGTGAGTACCAAGTTGACCAGTTGTATCCTCAAATCAGC... | pathogenic | 290,763 |
The genetic variant at chromosome 18, position 51055012, affecting gene SMAD4 (SMAD family member 4): benign or pathogenic? Disease name(s) if pathogenic? | benign | AGTTTTACCTGAGAAACATTTATTATGGATTATCTGGGGTTAAAGAGATCTGTAGACCAGTAGAAGTTTCAAACTTACATTTGGGAAGTTTAGCCAGCATATTTAGGGCAAGAAAGATTTATGGGTCATAACTGTTTAAAAGCAGAATACAGTTGGTACATAAAGATGTTATGATTGCTGATTAAACTGAAGAGTCATCTGAAAAGCAAAAGCAGTGAGTACCAAGTTGACCAGTTGTATCCTCAAATCAGCTAGCAAAACCAGTAAGTTGGTAAAAAGATCCCAGTCATTATAACAACAAAAAAAACCTAAGATGTCCA... | AGTTTTACCTGAGAAACATTTATTATGGATTATCTGGGGTTAAAGAGATCTGTAGACCAGTAGAAGTTTCAAACTTACATTTGGGAAGTTTAGCCAGCATATTTAGGGCAAGAAAGATTTATGGGTCATAACTGTTTAAAAGCAGAATACAGTTGGTACATAAAGATGTTATGATTGCTGATTAAACTGAAGAGTCATCTGAAAAGCAAAAGCAGTGAGTACCAAGTTGACCAGTTGTATCCTCAAATCAGCTAGCAAAACCAGTAAGTTGGTAAAAAGATCCCAGTCATTATAACAACAAAAAAAACCTAAGATGTCCA... | benign | 290,777 |
Variant at chromosome position 51058143, chromosome 18, gene SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_of_stomach', 'Juvenile_polyposis_syndrome'] | CCCAGTTCCTTAATCACTTGGTGCTTCTATTATCTGTCTACTTTTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTA... | CCCAGTTCCTTAATCACTTGGTGCTTCTATTATCTGTCTACTTTTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTA... | pathogenic | 290,787 |
Variant on chromosome 18, at position 51058143, affecting SMAD4 (SMAD family member 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome'] | CCCAGTTCCTTAATCACTTGGTGCTTCTATTATCTGTCTACTTTTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTA... | CCCAGTTCCTTAATCACTTGGTGCTTCTATTATCTGTCTACTTTTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTA... | pathogenic | 290,788 |
Variant on chromosome 18, at position 51058155, affecting SMAD4 (SMAD family member 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | ATCACTTGGTGCTTCTATTATCTGTCTACTTTTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAAT... | ATCACTTGGTGCTTCTATTATCTGTCTACTTTTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAAT... | pathogenic | 290,795 |
Mutation at chromosome 18, position 51058180, within SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Juvenile_polyposis_syndrome'] | CTACTTTTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTT... | CTACTTTTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTT... | pathogenic | 290,802 |
Variant at chromosome 18, position 51058186, gene SMAD4 (SMAD family member 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | TTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAAC... | TTTATTTACCAAATTAGGAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAAC... | pathogenic | 290,804 |
Assess the variant on chromosome 18, position 51058203, impacting SMAD4 (SMAD family member 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCC... | GAATATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCC... | benign | 290,807 |
The chromosome 18, position 51058207 genetic variant in gene SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | ATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTA... | ATGGTTGACAAACAGTGGGTAGTGATAGAAAATAAAAGAAGGTACATTATAGCCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTA... | pathogenic | 290,810 |
Evaluate if the mutation on chromosome 18 at position 51058259 in SMAD4 (SMAD family member 4) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGA... | CCACTTGAACGTAGATTAGTGCTAGAGCACAGCTACCTACTTCTGTTTATATTATCTGGAGATTGAATTTCTGTGCCTTTGTCAATGCTTACTAAAGTGACTTCATTTTGACTGTGTTGTTTCCTGAGGTTGAATCCTATTCAAAGATTAGAAAAAGTGATAGAAATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGA... | benign | 290,820 |
A genetic alteration at chromosome 18, position 51058424, in gene SMAD4 (SMAD family member 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Myhre_syndrome'] | ATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTA... | ATGAAATGCAGCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTA... | pathogenic | 290,836 |
Considering the genetic mutation at chromosome 18, position 51058434, impacting SMAD4 (SMAD family member 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome'] | GCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGA... | GCTAATTTTATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGA... | pathogenic | 290,837 |
Evaluate if the mutation on chromosome 18 at position 51058443 in SMAD4 (SMAD family member 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Juvenile_polyposis_syndrome'] | ATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGATTTGAAAGG... | ATCCTGGTATTTATTGGGTAGATTTTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGATTTGAAAGG... | pathogenic | 290,841 |
Classify the chromosome 18 variant at position 51058467 affecting gene SMAD4 (SMAD family member 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGATTTGAAAGGCTATTTTACGTGAGCTGATTTAGT... | TTAATAATCGAATACCGTAAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGATTTGAAAGGCTATTTTACGTGAGCTGATTTAGT... | benign | 290,845 |
A genetic alteration at chromosome 18, position 51058485, in gene SMAD4 (SMAD family member 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGATTTGAAAGGCTATTTTACGTGAGCTGATTTAGTCGTATTGTTTAACTTTAT... | AAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGATTTGAAAGGCTATTTTACGTGAGCTGATTTAGTCGTATTGTTTAACTTTAT... | benign | 290,847 |
The genetic variant at chromosome 18, position 51058485, affecting gene SMAD4 (SMAD family member 4): benign or pathogenic? Disease name(s) if pathogenic? | benign | AAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGATTTGAAAGGCTATTTTACGTGAGCTGATTTAGTCGTATTGTTTAACTTTAT... | AAATACTGTAAGTTTTAGAACTTGTGTCAAAATGTTCCCTTATGTGGTGGCATGCGCCTGTAGTCCCAGCTGCTCCGGGGGCTGAGGCAGGAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCGAGTCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGGGTTCCCTTAGGTCTCAAAAAGTATATTGATGAAAAGAAGTTGAACTAAAATAGAAGATTTGAAAGGCTATTTTACGTGAGCTGATTTAGTCGTATTGTTTAACTTTAT... | benign | 290,848 |
Is chromosome 18, position 51059844, gene SMAD4 (SMAD family member 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GATGAACTGACATACCTCTGAAGAAGTTAATATGATAGGCCAGACGTACAGTGGTGTTTTGCTGGCATTTGAAATATGTTTGTGAAGAAATAAGCCACTACAATTAGTTAGACATTACCTAAAATGGAATAATTTTGAGCTTCCTCAAGTTAAAGTTTGCCTTTATAGATGACTGTAGGTTTTTTACCTGATAGGCCATGGGTGAGTTACACTTTTTGCCCATCTTTATAGTTGTGCATTATCAGATAAAATTGGTCCTTCATTTAGTATATGAAATCATAAGATGACATCTATGAATGTACCATGTTAATGTCTTCTTG... | GATGAACTGACATACCTCTGAAGAAGTTAATATGATAGGCCAGACGTACAGTGGTGTTTTGCTGGCATTTGAAATATGTTTGTGAAGAAATAAGCCACTACAATTAGTTAGACATTACCTAAAATGGAATAATTTTGAGCTTCCTCAAGTTAAAGTTTGCCTTTATAGATGACTGTAGGTTTTTTACCTGATAGGCCATGGGTGAGTTACACTTTTTGCCCATCTTTATAGTTGTGCATTATCAGATAAAATTGGTCCTTCATTTAGTATATGAAATCATAAGATGACATCTATGAATGTACCATGTTAATGTCTTCTTG... | benign | 290,850 |
Gene mutation in SMAD4 (SMAD family member 4) at chromosome 18, position 51059897—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GTGTTTTGCTGGCATTTGAAATATGTTTGTGAAGAAATAAGCCACTACAATTAGTTAGACATTACCTAAAATGGAATAATTTTGAGCTTCCTCAAGTTAAAGTTTGCCTTTATAGATGACTGTAGGTTTTTTACCTGATAGGCCATGGGTGAGTTACACTTTTTGCCCATCTTTATAGTTGTGCATTATCAGATAAAATTGGTCCTTCATTTAGTATATGAAATCATAAGATGACATCTATGAATGTACCATGTTAATGTCTTCTTGTTCCTCTAGGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTG... | GTGTTTTGCTGGCATTTGAAATATGTTTGTGAAGAAATAAGCCACTACAATTAGTTAGACATTACCTAAAATGGAATAATTTTGAGCTTCCTCAAGTTAAAGTTTGCCTTTATAGATGACTGTAGGTTTTTTACCTGATAGGCCATGGGTGAGTTACACTTTTTGCCCATCTTTATAGTTGTGCATTATCAGATAAAATTGGTCCTTCATTTAGTATATGAAATCATAAGATGACATCTATGAATGTACCATGTTAATGTCTTCTTGTTCCTCTAGGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTG... | pathogenic | 290,863 |
For chromosome 18, position 51059932, gene SMAD4 (SMAD family member 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATAAGCCACTACAATTAGTTAGACATTACCTAAAATGGAATAATTTTGAGCTTCCTCAAGTTAAAGTTTGCCTTTATAGATGACTGTAGGTTTTTTACCTGATAGGCCATGGGTGAGTTACACTTTTTGCCCATCTTTATAGTTGTGCATTATCAGATAAAATTGGTCCTTCATTTAGTATATGAAATCATAAGATGACATCTATGAATGTACCATGTTAATGTCTTCTTGTTCCTCTAGGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGCATCAGGGCCTCAGCCAGGACAGCA... | AATAAGCCACTACAATTAGTTAGACATTACCTAAAATGGAATAATTTTGAGCTTCCTCAAGTTAAAGTTTGCCTTTATAGATGACTGTAGGTTTTTTACCTGATAGGCCATGGGTGAGTTACACTTTTTGCCCATCTTTATAGTTGTGCATTATCAGATAAAATTGGTCCTTCATTTAGTATATGAAATCATAAGATGACATCTATGAATGTACCATGTTAATGTCTTCTTGTTCCTCTAGGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGCATCAGGGCCTCAGCCAGGACAGCA... | benign | 290,870 |
Clinically, how would you classify the variant at chromosome 18, position 51065488, gene SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | TCTCACTCTGTGGCCTGGGCTGGAGTGCAGTGGCACTCTCATGGCCCACTGCAGCCCTGACCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACAC... | TCTCACTCTGTGGCCTGGGCTGGAGTGCAGTGGCACTCTCATGGCCCACTGCAGCCCTGACCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACAC... | pathogenic | 290,885 |
Is the genetic change at chromosome 18, position 51065511, within gene SMAD4 (SMAD family member 4) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome'] | AGTGCAGTGGCACTCTCATGGCCCACTGCAGCCCTGACCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATC... | AGTGCAGTGGCACTCTCATGGCCCACTGCAGCCCTGACCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATC... | pathogenic | 290,887 |
Does the variant impacting SMAD4 (SMAD family member 4) on chromosome 18, position 51065531, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | GCCCACTGCAGCCCTGACCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAG... | GCCCACTGCAGCCCTGACCTCCCAGACTTAGGTGATTCTCCCATCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAG... | pathogenic | 290,894 |
The genetic variant at chromosome 18, position 51065595, affecting gene SMAD4 (SMAD family member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | GGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTAAACAAATATTTATCTTTGTGACAAGTTCATTAGAGTGACATGGCAA... | GGACTACAGGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTAAACAAATATTTATCTTTGTGACAAGTTCATTAGAGTGACATGGCAA... | pathogenic | 290,909 |
Variant in gene SMAD4 (SMAD family member 4), located at chromosome 18 position 51065603: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTAAACAAATATTTATCTTTGTGACAAGTTCATTAGAGTGACATGGCAAAACATTTG... | GGTGGACACAACCACGCCCAGCCAATTTTTCTATTTTTCGTAGAGACGCGGTTTCACCATGTTGCCCAGGCTGGCCTTGACCTCCTGGGCTCAAGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCCGGCTGAAAATAATTTCATAAATACTTCAAAACTGGCTTTTTAAGAAGACACTCAGTGAAGACACTTAGTGTATCACTGGTTTTTATGTTCTAAGCATAATGAAATATATGTAAACAAATATTTATCTTTGTGACAAGTTCATTAGAGTGACATGGCAAAACATTTG... | pathogenic | 290,910 |
Variant in SMAD4 (SMAD family member 4), chromosome 18, position 51066981—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ATGAGTCGATGTTATTCAAGGACAGTTCCCTGGAATACATCTTAGGGTCAGTGTGTTTTTAAAAAATAAAAGTTGAGACTACATAGAGAATATGTGTAGTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAAT... | ATGAGTCGATGTTATTCAAGGACAGTTCCCTGGAATACATCTTAGGGTCAGTGTGTTTTTAAAAAATAAAAGTTGAGACTACATAGAGAATATGTGTAGTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAAT... | benign | 290,917 |
Is the chromosome 18, position 51067003 variant in SMAD4 (SMAD family member 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CAGTTCCCTGGAATACATCTTAGGGTCAGTGTGTTTTTAAAAAATAAAAGTTGAGACTACATAGAGAATATGTGTAGTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATG... | CAGTTCCCTGGAATACATCTTAGGGTCAGTGTGTTTTTAAAAAATAAAAGTTGAGACTACATAGAGAATATGTGTAGTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATG... | benign | 290,921 |
Regarding the variant at chromosome 18 and position 51067052, affecting gene SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GTTGAGACTACATAGAGAATATGTGTAGTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCC... | GTTGAGACTACATAGAGAATATGTGTAGTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCC... | pathogenic | 290,927 |
Determine whether the variant at chromosome 18, position 51067076, in gene SMAD4 (SMAD family member 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GTAGTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAA... | GTAGTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAA... | pathogenic | 290,929 |
The mutation in gene SMAD4 (SMAD family member 4) at chromosome 18, position 51067079—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTG... | GTCAAATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTG... | pathogenic | 290,931 |
Located at chromosome 18 position 51067083, the variant affecting gene SMAD4 (SMAD family member 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | AATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTT... | AATGAAATACCATGGTAAAATAATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTT... | pathogenic | 290,932 |
Evaluate the clinical significance of the mutation at chromosome 18, position 51067105 in gene SMAD4 (SMAD family member 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | ATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTT... | ATTTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTT... | pathogenic | 290,937 |
Is the chromosome 18, position 51067107 variant in SMAD4 (SMAD family member 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | TTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTAT... | TTATTTTAGATTCTGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTAT... | pathogenic | 290,938 |
Variant in gene SMAD4 (SMAD family member 4), located at chromosome 18 position 51067120: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Carcinoma_of_pancreas', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Generalized_juvenile_polyposis/juvenile_polyposis_coli', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome', ... | TGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTATATCTTTCTCATGG... | TGATTATTTCTGTTCTTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTATATCTTTCTCATGG... | pathogenic | 290,944 |
Variant at chromosome 18, position 51067135, gene SMAD4 (SMAD family member 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTATATCTTTCTCATGGGAGGATGTTCTTTCC... | TTTAAATTCTCAGTTGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTATATCTTTCTCATGGGAGGATGTTCTTTCC... | pathogenic | 290,946 |
Is the genetic mutation found on chromosome 18 at position 51067149, within the gene SMAD4 (SMAD family member 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Generalized_juvenile_polyposis/juvenile_polyposis_coli', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTATATCTTTCTCATGGGAGGATGTTCTTTCCCATTTATTTCCTAT... | TGACCTGGTCCTTTGAGGTAAGAACCAAATTCCAGATTTTAAAAAATGACTTTTAGAACTTGAGGATAAGTGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTATATCTTTCTCATGGGAGGATGTTCTTTCCCATTTATTTCCTAT... | pathogenic | 290,949 |
The mutation impacting SMAD4 (SMAD family member 4) on chromosome 18 at position 51067219: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTATATCTTTCTCATGGGAGGATGTTCTTTCCCATTTATTTCCTATAGCTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAGGTAGGAGAGACATTTAAGGTT... | TGGTAATTGGAAATTAAAAAAAAAAATTAGTGTTTTAAGAACAGTGCTAAGTACTGAGCTAGAAAATAGAAGACATGGAAATTCCTACCTTTTAATGCATTATGTTATTTTAATCCAGTTGTTTTGGGTGCATTACATTTCCATCTCCCCTCCCTTTACCCTTTCTTTTAGGAAAAACTGTGTTGTGGAGTGCAAGTGAAAGCCTTATATCTTTCTCATGGGAGGATGTTCTTTCCCATTTATTTCCTATAGCTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAGGTAGGAGAGACATTTAAGGTT... | benign | 290,958 |
Is the variant located on chromosome 18 at position 51076632, gene SMAD4 (SMAD family member 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GCGGAAGGTTGGGTGTGGGGACAGGGACTCTGTACTTTCTGCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTT... | GCGGAAGGTTGGGTGTGGGGACAGGGACTCTGTACTTTCTGCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTT... | benign | 290,960 |
Variant at chromosome 18, position 51076668, gene SMAD4 (SMAD family member 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TTCTGCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGG... | TTCTGCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGG... | pathogenic | 290,969 |
Gene SMAD4 (SMAD family member 4) variant at chromosome 18, position 51076668—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TTCTGCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGG... | TTCTGCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGG... | pathogenic | 290,970 |
Mutation found at chromosome 18 position 51076669, gene SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Juvenile_polyposis_syndrome'] | TCTGCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGGG... | TCTGCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGGG... | pathogenic | 290,971 |
Variant in SMAD4 (SMAD family member 4), chromosome 18, position 51076672—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | GCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGGGCTC... | GCTTAATTGTGCTGTGAACCTAAAACTGCTCTAAAAAAGTAAAGTTTATTAATTTACTTCTTTAAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGGGCTC... | pathogenic | 290,972 |
Mutation at chromosome 18, position 51076735, within SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | AAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATCTGCCACCATGCCCC... | AAAAAAGTGGTTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATCTGCCACCATGCCCC... | pathogenic | 290,985 |
Chromosome 18, position 51076745, gene SMAD4 (SMAD family member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome'] | TTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATCTGCCACCATGCCCCTGTCATTGCT... | TTGTAGAGCTATTTACCTTTTCAAATGTTTGAGTCCCTGCTTTGTTCTGTACTGGGTAATGCCTTCCAAATGTCATAGCCTAGAAGTTCTGAAACGAATGGACTGTGAGAAATTTGAGGAAGTAGTGGTTTCACTTCTGGGTGTTGTGGGCTTTCTGATTTCTAGAACCTGACTTTGTCATGCTTTCTTTTAAATTTAAATTTTTTTGTGGAGTTGGGGTCTTGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATCTGCCACCATGCCCCTGTCATTGCT... | pathogenic | 290,987 |
Gene mutation in SMAD4 (SMAD family member 4) at chromosome 18, position 51078329—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | AGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGTTTTTAATGTATGGAATTTTTCT... | AGGAAAATTCAGCAATTTGATTATGAAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGTTTTTAATGTATGGAATTTTTCT... | pathogenic | 291,019 |
Clinically, how would you classify the variant at chromosome 18, position 51078354, gene SMAD4 (SMAD family member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Generalized_juvenile_polyposis/juvenile_polyposis_coli', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | AAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGTTTTTAATGTATGGAATTTTTCTTTATGAACTCATAGTATGAAATGTT... | AAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGTTTTTAATGTATGGAATTTTTCTTTATGAACTCATAGTATGAAATGTT... | pathogenic | 291,023 |
Variant on chromosome 18, at position 51078354, affecting SMAD4 (SMAD family member 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome', 'Juvenile_polyposis_syndrome'] | AAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGTTTTTAATGTATGGAATTTTTCTTTATGAACTCATAGTATGAAATGTT... | AAAGGGGGAGGGGGACTTCTTAATTGTACATTTTACACAGATTTCCACAAGGACAGTAATAGCTGACCCACTTCGAACTAGATAAAAGATACAGAGGCGTGTGGCAGCCAAAGCCATCATGATGTTGACATGATCTTCTTGGTGAGCTCCAAGCCACCTTTCCTAACTAGTTTTAGACCAATCACAATGTACATAAAAGTTTACATGTTTTAATTAATTCTTTTCATGTGAGAGGTATAATGAAACTGAGTTTTAAATAAGTCAGGCATTGGTTTTTAATGTATGGAATTTTTCTTTATGAACTCATAGTATGAAATGTT... | pathogenic | 291,025 |
Considering the variant on chromosome 18, location 51081434, involving gene SMAD4 (SMAD family member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTTAAACTAAATAATGAATAAACTGAATATTTTGGAAACTGCTAAATTCTATGTTAAATACTGTGCAGAATAATGGAAACATTACAGTTCATAATAGGTAGTTTGGATATTTTTGTACTTGATTTGATGTGACTTTTTTTGGTATAATGTTTAAATCATGTATGTTATGATATTGTTTAAAATTCAGTTTTTGTATCTTGGGGCAAGACTGCAAACTTTTTTATATCTTTTGGTTATTCTAAGCCCTTTGCCATCAATGATCATATCAATTGGCAGTGACTTTGTATAGAGAATTTAAGTAGAAAAGTTGCAGATGTATT... | CTTAAACTAAATAATGAATAAACTGAATATTTTGGAAACTGCTAAATTCTATGTTAAATACTGTGCAGAATAATGGAAACATTACAGTTCATAATAGGTAGTTTGGATATTTTTGTACTTGATTTGATGTGACTTTTTTTGGTATAATGTTTAAATCATGTATGTTATGATATTGTTTAAAATTCAGTTTTTGTATCTTGGGGCAAGACTGCAAACTTTTTTATATCTTTTGGTTATTCTAAGCCCTTTGCCATCAATGATCATATCAATTGGCAGTGACTTTGTATAGAGAATTTAAGTAGAAAAGTTGCAGATGTATT... | benign | 291,047 |
Classify the chromosome 18 variant at position 52906062 affecting gene DCC (DCC netrin 1 receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | AGTTCTAACTGAAAAAGAATAAAATTAGCCAAGTGGCTGGCGCCCCCTGTAGGCAATCTGTAGTGTTTATCCAGGCATCCCCATGGATCCAGATTTCAGAGCCTTAGTTTAAGAATCAGATGAGTAATTTTAGAATATATATGTGAGGGATAAATTAATATTTGCATCAATATTAAGGTTTTTGCATGGTATAGCATTAATCTTTCTTACAAAGAACAATCTTAATATTGCATCTCTAGGATTGCAGGTCTATTTCTGTGGATGTAGCTATAATGAGTGATATCCTTCAGCAGCTTGTACCTAACCCACATATAATTTTG... | AGTTCTAACTGAAAAAGAATAAAATTAGCCAAGTGGCTGGCGCCCCCTGTAGGCAATCTGTAGTGTTTATCCAGGCATCCCCATGGATCCAGATTTCAGAGCCTTAGTTTAAGAATCAGATGAGTAATTTTAGAATATATATGTGAGGGATAAATTAATATTTGCATCAATATTAAGGTTTTTGCATGGTATAGCATTAATCTTTCTTACAAAGAACAATCTTAATATTGCATCTCTAGGATTGCAGGTCTATTTCTGTGGATGTAGCTATAATGAGTGATATCCTTCAGCAGCTTGTACCTAACCCACATATAATTTTG... | pathogenic | 291,057 |
Regarding the variant at chromosome 18 and position 55228229, affecting gene TCF4 (transcription factor 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Pitt-Hopkins_syndrome'] | AAAACAGGAGAACAGATGGAACATTTAGACCATTTCAATGGATTTATGGCATTTACTCAGTGCTGATAGGTGGAAAAACTACTTGAACAGGGATTTTTTTTTTTCTTAATACATGCCAAGAATTGTGTGGCTGTAAAAATAGAAACAAGTTAGAGACAAAAGGATGCTGACAAATACTTAACTAGGAGCACTATTTGTTTACTGCACTATACACCAAAGTCAATCATTATAAAGATTCACGATGGAAGTTGGTTCAATTGTGCCCAGACGTCAAAGCTAGCTATCTGATGAGTCGCTGTGCCATAGCTTGATCTATGTTT... | AAAACAGGAGAACAGATGGAACATTTAGACCATTTCAATGGATTTATGGCATTTACTCAGTGCTGATAGGTGGAAAAACTACTTGAACAGGGATTTTTTTTTTTCTTAATACATGCCAAGAATTGTGTGGCTGTAAAAATAGAAACAAGTTAGAGACAAAAGGATGCTGACAAATACTTAACTAGGAGCACTATTTGTTTACTGCACTATACACCAAAGTCAATCATTATAAAGATTCACGATGGAAGTTGGTTCAATTGTGCCCAGACGTCAAAGCTAGCTATCTGATGAGTCGCTGTGCCATAGCTTGATCTATGTTT... | pathogenic | 291,085 |
Variant on chromosome 18, at position 55228275, affecting TCF4 (transcription factor 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pitt-Hopkins_syndrome'] | TGGCATTTACTCAGTGCTGATAGGTGGAAAAACTACTTGAACAGGGATTTTTTTTTTTCTTAATACATGCCAAGAATTGTGTGGCTGTAAAAATAGAAACAAGTTAGAGACAAAAGGATGCTGACAAATACTTAACTAGGAGCACTATTTGTTTACTGCACTATACACCAAAGTCAATCATTATAAAGATTCACGATGGAAGTTGGTTCAATTGTGCCCAGACGTCAAAGCTAGCTATCTGATGAGTCGCTGTGCCATAGCTTGATCTATGTTTCTATCAAATATGGTAAGTATAAACTTCATTCATACTGGCCAGAGAA... | TGGCATTTACTCAGTGCTGATAGGTGGAAAAACTACTTGAACAGGGATTTTTTTTTTTCTTAATACATGCCAAGAATTGTGTGGCTGTAAAAATAGAAACAAGTTAGAGACAAAAGGATGCTGACAAATACTTAACTAGGAGCACTATTTGTTTACTGCACTATACACCAAAGTCAATCATTATAAAGATTCACGATGGAAGTTGGTTCAATTGTGCCCAGACGTCAAAGCTAGCTATCTGATGAGTCGCTGTGCCATAGCTTGATCTATGTTTCTATCAAATATGGTAAGTATAAACTTCATTCATACTGGCCAGAGAA... | pathogenic | 291,089 |
Determine if the mutation at chromosome 18, position 55228323 in gene TCF4 (transcription factor 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Pitt-Hopkins_syndrome'] | TTTTTTTTTTCTTAATACATGCCAAGAATTGTGTGGCTGTAAAAATAGAAACAAGTTAGAGACAAAAGGATGCTGACAAATACTTAACTAGGAGCACTATTTGTTTACTGCACTATACACCAAAGTCAATCATTATAAAGATTCACGATGGAAGTTGGTTCAATTGTGCCCAGACGTCAAAGCTAGCTATCTGATGAGTCGCTGTGCCATAGCTTGATCTATGTTTCTATCAAATATGGTAAGTATAAACTTCATTCATACTGGCCAGAGAAATACTGCACTACCCCTCCTCAAAAAAGTGCAACTTAATGCTTTAGGAC... | TTTTTTTTTTCTTAATACATGCCAAGAATTGTGTGGCTGTAAAAATAGAAACAAGTTAGAGACAAAAGGATGCTGACAAATACTTAACTAGGAGCACTATTTGTTTACTGCACTATACACCAAAGTCAATCATTATAAAGATTCACGATGGAAGTTGGTTCAATTGTGCCCAGACGTCAAAGCTAGCTATCTGATGAGTCGCTGTGCCATAGCTTGATCTATGTTTCTATCAAATATGGTAAGTATAAACTTCATTCATACTGGCCAGAGAAATACTGCACTACCCCTCCTCAAAAAAGTGCAACTTAATGCTTTAGGAC... | pathogenic | 291,093 |
Does the chromosome 18 mutation at position 55228999 within gene TCF4 (transcription factor 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Pitt-Hopkins_syndrome'] | GTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCCATATTT... | GTAACATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCCATATTT... | pathogenic | 291,116 |
Considering the genetic mutation at chromosome 18, position 55229003, impacting TCF4 (transcription factor 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cerebral_hypoplasia', 'Global_developmental_delay', 'Pitt-Hopkins_syndrome'] | CATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCCATATTTACAG... | CATTGTAGCATTCTAACCTTGTACCTCTGAAAATCCCAGAATAGGTTCACAAACGCAACATTACAATTCAGACAAACTCTTTTTGCCATGTCTTGGTAATGCTGCTTGTAATATCTACACATGATGTGACTTTTAAGTCCTGTGTTCCCAAAAGACTGGAGAAACAACTTTCTACTTATTTATGAATGAGAAGCAACATCAGGGTCAGCATTTCATCCTGCACTACCCCTCTGGAAGCAGAGTTGGCACTACAGGTTACGATAACAAACCAGGGAAAGGGACAGAAATAAGACCAAAAAAAAAAAAATCCATATTTACAG... | pathogenic | 291,118 |
Regarding the variant found on chromosome 18 at position 55232630 in gene TCF4 (transcription factor 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Pitt-Hopkins_syndrome'] | TCCATGGAAGTGACTAACAATTAACCTAAAGGGTAATTTCACACATTGGAAATGTTCACAGAATAAAGATGATTAATCACAACATTTCGGAGTTGGAAGATGTGGGAAATTATCTACTCAATTAAATGTATATTTAATGAATGCTGGTTTAAAATATATGACTCTGATGTTCCATTTTGGAGAATCTCTGGGTAACTTCCAAGTGGCAATAAGGACCAATTACACTTGAGAAGCTCCAATCAATCAAAAGTGGGAGTGGTATTCTTCGGTTGCAAGTATACGTTACACATAAAGATAATGCACGTAAGTCAAGAACACTT... | TCCATGGAAGTGACTAACAATTAACCTAAAGGGTAATTTCACACATTGGAAATGTTCACAGAATAAAGATGATTAATCACAACATTTCGGAGTTGGAAGATGTGGGAAATTATCTACTCAATTAAATGTATATTTAATGAATGCTGGTTTAAAATATATGACTCTGATGTTCCATTTTGGAGAATCTCTGGGTAACTTCCAAGTGGCAATAAGGACCAATTACACTTGAGAAGCTCCAATCAATCAAAAGTGGGAGTGGTATTCTTCGGTTGCAAGTATACGTTACACATAAAGATAATGCACGTAAGTCAAGAACACTT... | pathogenic | 291,134 |
Classify the chromosome 18 variant at position 55254677 affecting gene TCF4 (transcription factor 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Pitt-Hopkins_syndrome'] | CTACATATGGTATTTAAGAAAAACTTTACATATTTATGGAAAAAATAGTCTCTGAAGCAATGCCCTGGGTGCATGTTACATCCGTTTAACATATGCAAAATGAACACAGCTACAGAAATTAAACTATTTTTCTGTTGATTGAGAGCAGATATACAGAAATGGTTATAAGTCACAGATCTGGCTTTTAATAAAGCCAGATTTCTTAATTAAAAGCAGTATGTTTAAACATTGTAGTTAGAAAAAAAAGAGCTGTACAAACGAAAATCTCATATTATATGCATCCCAAGTGTATTTAACACATTACCTGAGGCCAAGCTAAA... | CTACATATGGTATTTAAGAAAAACTTTACATATTTATGGAAAAAATAGTCTCTGAAGCAATGCCCTGGGTGCATGTTACATCCGTTTAACATATGCAAAATGAACACAGCTACAGAAATTAAACTATTTTTCTGTTGATTGAGAGCAGATATACAGAAATGGTTATAAGTCACAGATCTGGCTTTTAATAAAGCCAGATTTCTTAATTAAAAGCAGTATGTTTAAACATTGTAGTTAGAAAAAAAAGAGCTGTACAAACGAAAATCTCATATTATATGCATCCCAAGTGTATTTAACACATTACCTGAGGCCAAGCTAAA... | pathogenic | 291,154 |
Is the chromosome 18, position 55350390 variant in TCF4 (transcription factor 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Intellectual_disability', 'Neurodevelopmental_disorder', 'Pitt-Hopkins_syndrome'] | ATTTCAGAAAAAAGGCTATTCATCAAAATGTTTCATAAGGACCATGAAAACATTTAGTCAAGATAAATCTTCTAAGAAGAGTAAATCCTAAACTGACCACTAAAAACAGAAAATTAAATAGAATAAAACTAAATTCCTAATTCCCAAGTTTTGTTTATTGGGAAAGAAAGGAAAATTATTTTTATATTTCTGAATGTATCACGACATAGCAGCAACACCTAAATTGTCTTAACAGCAAAGAAAACACTGTACCAGTAAAATTTTCTAAAGGGGCCAGTTAGCTATAGGGAAATACTTAAACATTTACAACGAATTATGAA... | ATTTCAGAAAAAAGGCTATTCATCAAAATGTTTCATAAGGACCATGAAAACATTTAGTCAAGATAAATCTTCTAAGAAGAGTAAATCCTAAACTGACCACTAAAAACAGAAAATTAAATAGAATAAAACTAAATTCCTAATTCCCAAGTTTTGTTTATTGGGAAAGAAAGGAAAATTATTTTTATATTTCTGAATGTATCACGACATAGCAGCAACACCTAAATTGTCTTAACAGCAAAGAAAACACTGTACCAGTAAAATTTTCTAAAGGGGCCAGTTAGCTATAGGGAAATACTTAAACATTTACAACGAATTATGAA... | pathogenic | 291,211 |
The genetic variant at chromosome 18, position 55350903, affecting gene TCF4 (transcription factor 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Pitt-Hopkins_syndrome'] | AACATTCAAAGGTCCACCAAATGCATTTAATATTGTCCATATTAAGTTCAGGCATGTTTAAAATGTAAACAGCTGTTAGGACTGTATCATTTGAAGTTGTCATAAAACCTATTAAAAGCTAAAGTTTCATCAACATTAAATCCACCCCTAACTTCAAGCTTAAAATATGCTTATAAAATCCTTTGGGCATATTAGTCAATTTCAATACAACACAGAAATTCAAACAATAAACAACTGAGTACAATTTTAAGTGACTTATTGCTAGTTGAAAGTGACTATACACCATTGGCAATCTTATTTACACAATATTTTTCTATATT... | AACATTCAAAGGTCCACCAAATGCATTTAATATTGTCCATATTAAGTTCAGGCATGTTTAAAATGTAAACAGCTGTTAGGACTGTATCATTTGAAGTTGTCATAAAACCTATTAAAAGCTAAAGTTTCATCAACATTAAATCCACCCCTAACTTCAAGCTTAAAATATGCTTATAAAATCCTTTGGGCATATTAGTCAATTTCAATACAACACAGAAATTCAAACAATAAACAACTGAGTACAATTTTAAGTGACTTATTGCTAGTTGAAAGTGACTATACACCATTGGCAATCTTATTTACACAATATTTTTCTATATT... | pathogenic | 291,216 |
The mutation in gene TCF4 (transcription factor 4) at chromosome 18, position 55350957—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Pitt-Hopkins_syndrome'] | TGTTTAAAATGTAAACAGCTGTTAGGACTGTATCATTTGAAGTTGTCATAAAACCTATTAAAAGCTAAAGTTTCATCAACATTAAATCCACCCCTAACTTCAAGCTTAAAATATGCTTATAAAATCCTTTGGGCATATTAGTCAATTTCAATACAACACAGAAATTCAAACAATAAACAACTGAGTACAATTTTAAGTGACTTATTGCTAGTTGAAAGTGACTATACACCATTGGCAATCTTATTTACACAATATTTTTCTATATTTATGAATAATTTTGTGATGCTTCTTCAACATCACCAACTCTATGATAATCAGCA... | TGTTTAAAATGTAAACAGCTGTTAGGACTGTATCATTTGAAGTTGTCATAAAACCTATTAAAAGCTAAAGTTTCATCAACATTAAATCCACCCCTAACTTCAAGCTTAAAATATGCTTATAAAATCCTTTGGGCATATTAGTCAATTTCAATACAACACAGAAATTCAAACAATAAACAACTGAGTACAATTTTAAGTGACTTATTGCTAGTTGAAAGTGACTATACACCATTGGCAATCTTATTTACACAATATTTTTCTATATTTATGAATAATTTTGTGATGCTTCTTCAACATCACCAACTCTATGATAATCAGCA... | pathogenic | 291,219 |
Chromosome 18, position 57551315, gene FECH (ferrochelatase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['FECH-related_disorder', 'Protoporphyria,_erythropoietic,_1'] | ACATTTAATAATTCTGATTTAGATCAGTTTTGATTTAACAGACAGCATGAATCAAACTTAGCTAAAACCTTAATGATGTTGTAATATTTATTAACATAGCCAATTCTCAATATAGAAGATTTATGAATCTCCTAATACTTCCACTTTATAAACTGGCTAAAAAAAAAAAAAAAAAGAAACGCTCTTTTGAAGAACAAAGTTTCAGGGCTTGGAGGAAAGAGAAAGTGATCTTTACAAATTCTTCATGGAACCACCGGGGATCTTTTAATCCATTTAAATACAAACATAGAAGATCAGACTCTGATCTGACATTATTTCTA... | ACATTTAATAATTCTGATTTAGATCAGTTTTGATTTAACAGACAGCATGAATCAAACTTAGCTAAAACCTTAATGATGTTGTAATATTTATTAACATAGCCAATTCTCAATATAGAAGATTTATGAATCTCCTAATACTTCCACTTTATAAACTGGCTAAAAAAAAAAAAAAAAAGAAACGCTCTTTTGAAGAACAAAGTTTCAGGGCTTGGAGGAAAGAGAAAGTGATCTTTACAAATTCTTCATGGAACCACCGGGGATCTTTTAATCCATTTAAATACAAACATAGAAGATCAGACTCTGATCTGACATTATTTCTA... | pathogenic | 291,272 |
Evaluate this variant at chromosome 18, position 57554382, gene FECH (ferrochelatase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | TTCCCTTTTCTTTTGATAGCTTTTCAATTACTTGATCTTTTATTTTTTATTTATTTTATTTTATTTATTTATTTATTTATTTTTTGAGAGGCAGTCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTAGTGCGATCTCAACTCATTGCAACCTCCACCTCCCAGATTCAAGTGATTTTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACGCTTAGCTAAGTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGACTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGG... | TTCCCTTTTCTTTTGATAGCTTTTCAATTACTTGATCTTTTATTTTTTATTTATTTTATTTTATTTATTTATTTATTTATTTTTTGAGAGGCAGTCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTAGTGCGATCTCAACTCATTGCAACCTCCACCTCCCAGATTCAAGTGATTTTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACGCTTAGCTAAGTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGACTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGG... | pathogenic | 291,275 |
Evaluate if the mutation on chromosome 18 at position 57554854 in FECH (ferrochelatase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['FECH-related_disorder', 'Protoporphyria,_erythropoietic,_1'] | AAACTTCATATAAAAGTCAGTTACAACAGAATAACCAGCGTTGGTAAAGGGCATTCTCCAACAATGTTGATGGGAGAGTCAGCGATACACTGACTAGAAAAATATATACCAACACTGAAATTCCATGTGCACCTGTAGTCCCAGCTACTCAGGTAGCTGAGGAGAGGATCACCTGAGCCTGGGATTTTGAGGCTAAAGGGAGCTATGATTGTGCCACTGCACCCCAGCCTGGTTGACAGAGCCAGATTTCATCTCTAAGCAAATTTATAAAATCATAATAAATTTAAAATAAAAAAATTGATTTCCAAACATATTGGTAT... | AAACTTCATATAAAAGTCAGTTACAACAGAATAACCAGCGTTGGTAAAGGGCATTCTCCAACAATGTTGATGGGAGAGTCAGCGATACACTGACTAGAAAAATATATACCAACACTGAAATTCCATGTGCACCTGTAGTCCCAGCTACTCAGGTAGCTGAGGAGAGGATCACCTGAGCCTGGGATTTTGAGGCTAAAGGGAGCTATGATTGTGCCACTGCACCCCAGCCTGGTTGACAGAGCCAGATTTCATCTCTAAGCAAATTTATAAAATCATAATAAATTTAAAATAAAAAAATTGATTTCCAAACATATTGGTAT... | pathogenic | 291,284 |
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