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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 3, position 46705816, gene TMIE (transmembrane inner ear) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_6', 'Sensorineural_hearing_loss_disorder'] | CACTAGATGAAGAAGCGCCTGGCTCATGACAGATGCCTAATCCATGTTTACGGACCTGGGGGAAGAAGGGCTGGATGGTCGAACTACAGGTTGCCTTTCTTCTCAGAGAACCAGAAGGGACTTCTCGTGTCTGTCCTTATTTAGTAATCAGTGCACAACATCTCGCTCATATGCCCCAGGGTTCTCTCTCCCTCAGAGGACAGACCCCTCTCCCTGTCCCTCAGCCACACTAAGTGACAGACATGGGGTCATATCCATCTCTGGTCAGGGACAGATCTTACTCAAATTCTACAGTGTGGGTCCATGTCCCTTCAGACCTA... | CACTAGATGAAGAAGCGCCTGGCTCATGACAGATGCCTAATCCATGTTTACGGACCTGGGGGAAGAAGGGCTGGATGGTCGAACTACAGGTTGCCTTTCTTCTCAGAGAACCAGAAGGGACTTCTCGTGTCTGTCCTTATTTAGTAATCAGTGCACAACATCTCGCTCATATGCCCCAGGGTTCTCTCTCCCTCAGAGGACAGACCCCTCTCCCTGTCCCTCAGCCACACTAAGTGACAGACATGGGGTCATATCCATCTCTGGTCAGGGACAGATCTTACTCAAATTCTACAGTGTGGGTCCATGTCCCTTCAGACCTA... | pathogenic | 67,475 |
Clinically, how would you classify the variant at chromosome 3, position 46709583, gene TMIE (transmembrane inner ear): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CCCCAAAGCCCTGCAGGAAAAGGGGCTGGGGCTAGATGGGGTGCCCCTGGAGGTCTCCTCCAGCCCCAGGGACTTATATCCCAAGCCCCTGCCTGGGCCCTGGAACTTGACCCAAAGCTCTTTGCATCTCCCCTTCTTTGAAGAGAAGCAAACAGGCCAGGCTGTGCGGGGCAGGCCTGAAGTGAGGGGTGGTGTTTGAGCCCGGCTCTGGCTGCCGTCAGTGGCCCACTGAGCTCCTTAGGAAGCCCCAGCCTCCCGGGGCCTGGGACCAGCCTGCATGGAGCCTGAGTGGGCATAGTCCCAAGGAGGTTCCTGGTGGG... | CCCCAAAGCCCTGCAGGAAAAGGGGCTGGGGCTAGATGGGGTGCCCCTGGAGGTCTCCTCCAGCCCCAGGGACTTATATCCCAAGCCCCTGCCTGGGCCCTGGAACTTGACCCAAAGCTCTTTGCATCTCCCCTTCTTTGAAGAGAAGCAAACAGGCCAGGCTGTGCGGGGCAGGCCTGAAGTGAGGGGTGGTGTTTGAGCCCGGCTCTGGCTGCCGTCAGTGGCCCACTGAGCTCCTTAGGAAGCCCCAGCCTCCCGGGGCCTGGGACCAGCCTGCATGGAGCCTGAGTGGGCATAGTCCCAAGGAGGTTCCTGGTGGG... | benign | 67,481 |
Mutation found at chromosome 3 position 46709583, gene TMIE (transmembrane inner ear): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCCCAAAGCCCTGCAGGAAAAGGGGCTGGGGCTAGATGGGGTGCCCCTGGAGGTCTCCTCCAGCCCCAGGGACTTATATCCCAAGCCCCTGCCTGGGCCCTGGAACTTGACCCAAAGCTCTTTGCATCTCCCCTTCTTTGAAGAGAAGCAAACAGGCCAGGCTGTGCGGGGCAGGCCTGAAGTGAGGGGTGGTGTTTGAGCCCGGCTCTGGCTGCCGTCAGTGGCCCACTGAGCTCCTTAGGAAGCCCCAGCCTCCCGGGGCCTGGGACCAGCCTGCATGGAGCCTGAGTGGGCATAGTCCCAAGGAGGTTCCTGGTGGG... | CCCCAAAGCCCTGCAGGAAAAGGGGCTGGGGCTAGATGGGGTGCCCCTGGAGGTCTCCTCCAGCCCCAGGGACTTATATCCCAAGCCCCTGCCTGGGCCCTGGAACTTGACCCAAAGCTCTTTGCATCTCCCCTTCTTTGAAGAGAAGCAAACAGGCCAGGCTGTGCGGGGCAGGCCTGAAGTGAGGGGTGGTGTTTGAGCCCGGCTCTGGCTGCCGTCAGTGGCCCACTGAGCTCCTTAGGAAGCCCCAGCCTCCCGGGGCCTGGGACCAGCCTGCATGGAGCCTGAGTGGGCATAGTCCCAAGGAGGTTCCTGGTGGG... | benign | 67,482 |
Chromosome 3, position 46709583, gene TMIE (transmembrane inner ear): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCCAAAGCCCTGCAGGAAAAGGGGCTGGGGCTAGATGGGGTGCCCCTGGAGGTCTCCTCCAGCCCCAGGGACTTATATCCCAAGCCCCTGCCTGGGCCCTGGAACTTGACCCAAAGCTCTTTGCATCTCCCCTTCTTTGAAGAGAAGCAAACAGGCCAGGCTGTGCGGGGCAGGCCTGAAGTGAGGGGTGGTGTTTGAGCCCGGCTCTGGCTGCCGTCAGTGGCCCACTGAGCTCCTTAGGAAGCCCCAGCCTCCCGGGGCCTGGGACCAGCCTGCATGGAGCCTGAGTGGGCATAGTCCCAAGGAGGTTCCTGGTGGG... | CCCCAAAGCCCTGCAGGAAAAGGGGCTGGGGCTAGATGGGGTGCCCCTGGAGGTCTCCTCCAGCCCCAGGGACTTATATCCCAAGCCCCTGCCTGGGCCCTGGAACTTGACCCAAAGCTCTTTGCATCTCCCCTTCTTTGAAGAGAAGCAAACAGGCCAGGCTGTGCGGGGCAGGCCTGAAGTGAGGGGTGGTGTTTGAGCCCGGCTCTGGCTGCCGTCAGTGGCCCACTGAGCTCCTTAGGAAGCCCCAGCCTCCCGGGGCCTGGGACCAGCCTGCATGGAGCCTGAGTGGGCATAGTCCCAAGGAGGTTCCTGGTGGG... | benign | 67,483 |
Is the genetic change at chromosome 3, position 46858287, within gene MYL3 (myosin light chain 3) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCTTTAAATCTTTGCTCAACTATTTCCTGCCCAGATAATCCTTGACCTCATTATTTAACATGTCACCCACCTCCCGGCTTACACACACACATGCACACACACACCACAGCCCTCCCTGCTTTCAGTCCTTCTCTGCCTTTAGCACCATTCGATACTCCACTGTCAGGATTTGTCTGGTTTGTGTGAGTTCTACACAAAGGGCAGAGGTTTCCACTGCCTTCTCCACTGCAGTGTTCCCAGCACCTAGAACAGAGCCTGACACACAGTCGGTGCTCAGTAAATGCTGAGAGAATGAAAGGAGGATGCAACAGACTCCTGCG... | CCTTTAAATCTTTGCTCAACTATTTCCTGCCCAGATAATCCTTGACCTCATTATTTAACATGTCACCCACCTCCCGGCTTACACACACACATGCACACACACACCACAGCCCTCCCTGCTTTCAGTCCTTCTCTGCCTTTAGCACCATTCGATACTCCACTGTCAGGATTTGTCTGGTTTGTGTGAGTTCTACACAAAGGGCAGAGGTTTCCACTGCCTTCTCCACTGCAGTGTTCCCAGCACCTAGAACAGAGCCTGACACACAGTCGGTGCTCAGTAAATGCTGAGAGAATGAAAGGAGGATGCAACAGACTCCTGCG... | benign | 67,491 |
Classify the chromosome 3 variant at position 46903773 affecting gene PTH1R (parathyroid hormone 1 receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCAC... | CTAGGGTGCAGCCTCCAGACGCAGCCCCCTCACTCCCACAGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGTGAGCCCACCATGCCTGCCATGCCCTGGCTCCTCAGGGGTCCCTGAGTCCTGGTACCATGTACCCCAGGAAAGACAGTGGCCCCATGAATGATCCTGGGGCAAGGGAAAGGACCCAGCGTCTGACTCCCTGGCTGTCCTCACCCACCTGGCCTGCCCAGCAGTGATGGGAGGCCCTAGGGCAC... | benign | 67,588 |
For chromosome 3, position 47062158, gene SETD2 (SET domain containing 2, histone lysine methyltransferase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CCGGGCATCGTGGCACTTCCTTGTAGTCCCATCTACTGGATGGGTGCTGAAGTGGGAGGACTGCCTGAGCTGGTGCAGGTAAAGCAAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCTTGGGCAACAGAGTAAGACCCTGTCTCAACAGAGACCTCATTAGACAGAGATAAGCATACTCAAAATTGTATCAATGTCAAGTCGCTACAGAATCATCTCTTTGGTGGGTAGGGTTCTAAGGAAGCAGATTTTAAAGAAGAGTAAAAGTCTGAGAAAAGACAAGATTTCCCAGAGGAAAACCAAGAAGGCAGTAG... | CCGGGCATCGTGGCACTTCCTTGTAGTCCCATCTACTGGATGGGTGCTGAAGTGGGAGGACTGCCTGAGCTGGTGCAGGTAAAGCAAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCTTGGGCAACAGAGTAAGACCCTGTCTCAACAGAGACCTCATTAGACAGAGATAAGCATACTCAAAATTGTATCAATGTCAAGTCGCTACAGAATCATCTCTTTGGTGGGTAGGGTTCTAAGGAAGCAGATTTTAAAGAAGAGTAAAAGTCTGAGAAAAGACAAGATTTCCCAGAGGAAAACCAAGAAGGCAGTAG... | benign | 67,662 |
Is the variant located on chromosome 3 at position 47062371, gene SETD2 (SET domain containing 2, histone lysine methyltransferase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CAGAATCATCTCTTTGGTGGGTAGGGTTCTAAGGAAGCAGATTTTAAAGAAGAGTAAAAGTCTGAGAAAAGACAAGATTTCCCAGAGGAAAACCAAGAAGGCAGTAGTGATTTGCTACCAAGACCTAATAGAAGCTACAGTCATCATGAGCCCCAGAAAGAGATCTTCCCATATATGAAAATTTGTGGGAGAGAGGCACCACTGCAGACAAGTGAAAAGGATGGGTTTTCAAGTAAATGGTGCTGGGACAATTGGGTATTAAATAAAACTGAATCCCTCCCTTATAATATATACAAAAATTAATTGCAAATGGATTAAGG... | CAGAATCATCTCTTTGGTGGGTAGGGTTCTAAGGAAGCAGATTTTAAAGAAGAGTAAAAGTCTGAGAAAAGACAAGATTTCCCAGAGGAAAACCAAGAAGGCAGTAGTGATTTGCTACCAAGACCTAATAGAAGCTACAGTCATCATGAGCCCCAGAAAGAGATCTTCCCATATATGAAAATTTGTGGGAGAGAGGCACCACTGCAGACAAGTGAAAAGGATGGGTTTTCAAGTAAATGGTGCTGGGACAATTGGGTATTAAATAAAACTGAATCCCTCCCTTATAATATATACAAAAATTAATTGCAAATGGATTAAGG... | benign | 67,664 |
Variant at chromosome 3, position 47101417, gene SETD2 (SET domain containing 2, histone lysine methyltransferase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTAAATTTTCCAATATTTTAATTGTACTGGTTTCTTAATAATCAGAAAGTATCTTGCATAGGTCACTGGTCCTAAAGACCCAAAGAAGATAGACTGTTTCACGGGTAATGTTGTGTTCTTTCATTATGAGGCACACATTAGTTGTCTTTTTCTGATATTAGCGGCCACTAATGACCACTGTTTAGGACCCATACCTTACTAAGTGTTGCAAAATGGTGATATTTTTACTACTTAATTTAGTTTTATCTTTTTGTTTTCTGAGACAGGGTCTTGTGCTATGGCCCAGGCTGGACTGTAGTAGCAAGGTCATGCCTCCCTGC... | TTAAATTTTCCAATATTTTAATTGTACTGGTTTCTTAATAATCAGAAAGTATCTTGCATAGGTCACTGGTCCTAAAGACCCAAAGAAGATAGACTGTTTCACGGGTAATGTTGTGTTCTTTCATTATGAGGCACACATTAGTTGTCTTTTTCTGATATTAGCGGCCACTAATGACCACTGTTTAGGACCCATACCTTACTAAGTGTTGCAAAATGGTGATATTTTTACTACTTAATTTAGTTTTATCTTTTTGTTTTCTGAGACAGGGTCTTGTGCTATGGCCCAGGCTGGACTGTAGTAGCAAGGTCATGCCTCCCTGC... | benign | 67,677 |
Evaluate the clinical significance of the mutation at chromosome 3, position 47101597 in gene SETD2 (SET domain containing 2, histone lysine methyltransferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTTAGGACCCATACCTTACTAAGTGTTGCAAAATGGTGATATTTTTACTACTTAATTTAGTTTTATCTTTTTGTTTTCTGAGACAGGGTCTTGTGCTATGGCCCAGGCTGGACTGTAGTAGCAAGGTCATGCCTCCCTGCAGCCTCAATGTCCTAGGCTCAAGTGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTATAAGCATGCACCACTCACCTACTACTACATTTATTAACTGGAAGACTTGTACAAAGAAAAACTTCTTCTCATCAACTATTTGGTTTAACCTAAAGCAGAAGTCACTTGAGAAAGGCAGA... | TTTAGGACCCATACCTTACTAAGTGTTGCAAAATGGTGATATTTTTACTACTTAATTTAGTTTTATCTTTTTGTTTTCTGAGACAGGGTCTTGTGCTATGGCCCAGGCTGGACTGTAGTAGCAAGGTCATGCCTCCCTGCAGCCTCAATGTCCTAGGCTCAAGTGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTATAAGCATGCACCACTCACCTACTACTACATTTATTAACTGGAAGACTTGTACAAAGAAAAACTTCTTCTCATCAACTATTTGGTTTAACCTAAAGCAGAAGTCACTTGAGAAAGGCAGA... | benign | 67,680 |
Is the genetic mutation found on chromosome 3 at position 47116748, within the gene SETD2 (SET domain containing 2, histone lysine methyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GAAATCCTGTCTCTCTGAAAAATACAAAAATTAGCCGGGCATGATGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAGGAGGCAGAGGTTGTAGTGAGTCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGGGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGACCACTGGAAATTACCAATCATTTTGAATATATTATTATTTATTGCCCACCCAGCAGCAAATAACATTTTTAGCAATGGTCAAAGGATGAAGGATTTGCTCTAGAGTGAGGCAGTATAAA... | GAAATCCTGTCTCTCTGAAAAATACAAAAATTAGCCGGGCATGATGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAGGAGGCAGAGGTTGTAGTGAGTCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGGGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGACCACTGGAAATTACCAATCATTTTGAATATATTATTATTTATTGCCCACCCAGCAGCAAATAACATTTTTAGCAATGGTCAAAGGATGAAGGATTTGCTCTAGAGTGAGGCAGTATAAA... | pathogenic | 67,682 |
Determine if the mutation at chromosome 3, position 47123345 in gene SETD2 (SET domain containing 2, histone lysine methyltransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Luscan-Lumish_syndrome'] | ATACAAATGTCTCCTTGACTCCAATCTCTCATCTTCCCAATGGTCAGAATAGTGTCTATAACTTTGACTGCTCCGAGAAGAACAAGGACTTGTTTCTTCCATGGGCAAAGTAGAATTCTTTGGCACAACCACAACAGACTGGAGACGGTTTCTTGGAATACTGCTATCATCCGAATCTGTATCTTCTGAATCACTTTCATCATTTGAACTTTCAGAAGAGCCAGAATAATCTTCATGAACTGTAGACACAATTTCTGGGGCATGACCACTACTGTCACACTTTAATGCATAAGTTACACCATCACTGTCTTCCATGGTTA... | ATACAAATGTCTCCTTGACTCCAATCTCTCATCTTCCCAATGGTCAGAATAGTGTCTATAACTTTGACTGCTCCGAGAAGAACAAGGACTTGTTTCTTCCATGGGCAAAGTAGAATTCTTTGGCACAACCACAACAGACTGGAGACGGTTTCTTGGAATACTGCTATCATCCGAATCTGTATCTTCTGAATCACTTTCATCATTTGAACTTTCAGAAGAGCCAGAATAATCTTCATGAACTGTAGACACAATTTCTGGGGCATGACCACTACTGTCACACTTTAATGCATAAGTTACACCATCACTGTCTTCCATGGTTA... | pathogenic | 67,723 |
Variant in SETD2 (SET domain containing 2, histone lysine methyltransferase), chromosome 3, position 47123722—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Luscan-Lumish_syndrome', 'SETD2-related_disorder'] | CTCCTTCTCCTCTTTCATCTAAAGAGATTTCTGGTCTTCCTCTTCTTTCAGGCAATATGGAATTCCCTTCTTCTTGAGCCTCTTGCAAACATTTCCCAGATAACCCATTATTACGCCTGTTCTCCCTGGAAGCAAATCCCTTTCCTGAATCAGGAAGGTCACTACCTACTTCTACTATTGTTTCTTTCCCTGCATGCTTTAAAAACTCTGAACTTTTTTTACTCTTTAGCACTGCATCCAGAACTGGAGATGTGTTCTCTCCGCATTTCAAGAGAGTTAGACTGTCCACCTTTATTCCTGGTGGAAGACTCTGAAGAGAT... | CTCCTTCTCCTCTTTCATCTAAAGAGATTTCTGGTCTTCCTCTTCTTTCAGGCAATATGGAATTCCCTTCTTCTTGAGCCTCTTGCAAACATTTCCCAGATAACCCATTATTACGCCTGTTCTCCCTGGAAGCAAATCCCTTTCCTGAATCAGGAAGGTCACTACCTACTTCTACTATTGTTTCTTTCCCTGCATGCTTTAAAAACTCTGAACTTTTTTTACTCTTTAGCACTGCATCCAGAACTGGAGATGTGTTCTCTCCGCATTTCAAGAGAGTTAGACTGTCCACCTTTATTCCTGGTGGAAGACTCTGAAGAGAT... | pathogenic | 67,727 |
Variant on chromosome 3, at position 47407773, affecting PTPN23 (protein tyrosine phosphatase non-receptor type 23): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | TAACACTGTCCCCTCCCTCCCCAGGAGCGCTGCACTCCATGCTGGGGGCCATGGACAAGCGGGTGTCTGAGGAGGTGAGGAGAGGGGCAGTAGTGGAACATGTGGACATACCAGGGAGGGGCAGCCTCCCAAGTATGGATGAATCCTGACCCATGGAGTGGACACAGGCCATCCTCCCACTCCCTCCCAGGGCATGAAGGTCTCCTGTACCCATTTCCAGTGCGCAGCCGGCGCCTTCGCCTACCTACGGGAGCACTTCCCTCAAGCCTACAGCGTCGACATGAGCCGCCAGATCCTTACGCTCAACGTCAACCTCATGC... | TAACACTGTCCCCTCCCTCCCCAGGAGCGCTGCACTCCATGCTGGGGGCCATGGACAAGCGGGTGTCTGAGGAGGTGAGGAGAGGGGCAGTAGTGGAACATGTGGACATACCAGGGAGGGGCAGCCTCCCAAGTATGGATGAATCCTGACCCATGGAGTGGACACAGGCCATCCTCCCACTCCCTCCCAGGGCATGAAGGTCTCCTGTACCCATTTCCAGTGCGCAGCCGGCGCCTTCGCCTACCTACGGGAGCACTTCCCTCAAGCCTACAGCGTCGACATGAGCCGCCAGATCCTTACGCTCAACGTCAACCTCATGC... | pathogenic | 67,757 |
Regarding the variant at chromosome 3 and position 47410831, affecting gene PTPN23 (protein tyrosine phosphatase non-receptor type 23): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | AGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCCGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGA... | AGGTGTGTTCACGGATGTGGAGGCTTCCCTGAAGGACATCAGAGATCTGTTGGAGGAGGATGAGCTGCTAGAGCAGAAGTTTCAGGAGGCGGTGGGCCAGGCAGGGGCCATCTCCATCACCTCCAAGGCTGAGCTGGCAGAGGTGAGGCGAGAATGGGCCAAGTACATGGAAGTCCATGAGAAGGCCTCCTTCACCAACAGTGAGCTGCACCGTGCCATGAACCTGCACGTCGGCAACCTGCGCCTGCTCAGCGGGCCGCTTGACCAGGTCCGGGCTGCCCTGCCCACACCGGCCCTCTCCCCAGGTGAGCCCCACCAGA... | pathogenic | 67,785 |
Classify the chromosome 3 variant at position 48466711 affecting gene TREX1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'TREX1-related_disorder'] | GTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCT... | GTGAGTGGGTAGGGGCCAACAGCTGGCAGCTCTGGTGGTAAGGGGGCCCCGTGCAAGGACTGTAGGCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCT... | pathogenic | 67,908 |
Is the chromosome 3, position 48466776 variant in TREX1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations'] | GCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGC... | GCCCCACTGCAAACCCCCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGC... | pathogenic | 67,910 |
Variant in gene TREX1, located at chromosome 3 position 48466792: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus', 'TREX1-related_disorder'] | CCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCC... | CCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCC... | pathogenic | 67,911 |
Gene TREX1 variant at chromosome position 48466792 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'TREX1-related_disorder'] | CCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCC... | CCTCACGTGAGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCC... | pathogenic | 67,912 |
Clinical significance of chromosome 3, position 48466801, gene TREX1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations'] | AGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGAC... | AGGTGGCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGAC... | pathogenic | 67,913 |
Assess the variant on chromosome 3, position 48466806, impacting TREX1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus'] | GCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACT... | GCTAGGCTGAGCGGATTGTTAGGGTGCAGGCCATGGTGGCACCAGGCCTCAGTCTGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACT... | pathogenic | 67,914 |
Does the chromosome 3 mutation at position 48466860 within gene TREX1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations'] | TGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAG... | TGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAG... | pathogenic | 67,916 |
Regarding the variant at chromosome 3 and position 48466860, affecting gene TREX1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations'] | TGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAG... | TGCACCCCCCCTCTCTCAGGTGGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAG... | pathogenic | 67,917 |
Evaluate the clinical significance of the mutation at chromosome 3, position 48466881 in gene TREX1: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus', 'TREX1-related_disorder'] | GGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGAT... | GGTCAGAGCGCTCACGGTGATGTTGCACAGACAGTGGCTGACAGTGCGGAGGGCAGGGGGACCCCCAAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGAT... | pathogenic | 67,918 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 48466947, gene TREX1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus'] | AAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTT... | AAGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTT... | pathogenic | 67,920 |
Considering the variant on chromosome 3, location 48466948, involving gene TREX1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus'] | AGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTT... | AGGACCGACCAGCAGAGGCGGACAGTGCGCTGTCTGCGGGACACGGTGCTGCTGCTGCACGGCCTATCGCAGAAGGACAAGCTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTT... | pathogenic | 67,921 |
Variant on chromosome 3, at position 48467029, affecting TREX1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus'] | CTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACG... | CTCTTCATGATGCACTGCGTGGAGGTCCTGCATCAGTTTGACCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACG... | pathogenic | 67,924 |
Chromosome 3, position 48467070, gene TREX1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations'] | CCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCA... | CCAGGTGATGCCGGGGGTCAGCATGCTCATCCGAGGGCTTCCTGATGTGACGGACTGTGAAGGTAAGCCTGCCAGAGGCCATCCTGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCA... | pathogenic | 67,926 |
Mutation at chromosome 3, position 48467154, within TREX1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus'] | TGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGG... | TGCCCAGCCCCCATGGCTTCTTCCAGAGGTTCCCCAACAAGTCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGG... | pathogenic | 67,930 |
The mutation impacting TREX1 on chromosome 3 at position 48467195: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Aicardi-Goutieres_syndrome_1'] | TCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGA... | TCAGATTCCTGGGTGTCCCCTCAGCAGGCCCCCGCCCACTGCAGCCTGTTCCAGCACTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGA... | pathogenic | 67,933 |
Assess the variant on chromosome 3, position 48467251, impacting TREX1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus'] | CTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCG... | CTGGGGCCATTTTCTTTTATCTTCCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCG... | pathogenic | 67,934 |
Assess the variant on chromosome 3, position 48467274, impacting TREX1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations'] | CCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAG... | CCTGCCTCAGTTCTTCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAG... | pathogenic | 67,935 |
Classify the chromosome 3 variant at position 48467288 affecting gene TREX1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'TREX1-related_disorder'] | TCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCC... | TCTCCAAGCATATTGGGATGCCTTTTGCATCTATCTGTTGAGTGTGCCTGGCAGAGCCACGGTTTTTCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCC... | pathogenic | 67,938 |
Evaluate if the mutation on chromosome 3 at position 48467354 in TREX1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations'] | TCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCA... | TCCAGAAATAGCCGTGTCTGAATTGCCTTTGTATCACTTTGTTTGCAGTAGCTGAGGGAGCAGGGCCTGGGTGTGGAAGGGACTGGTTAGTTCCTGCGGACGTTGGGGGAGGAGAGGTGGGACCTGCCCTAGGCCCTGGCACCTTTGGGCCCTCACCAGGAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCA... | pathogenic | 67,939 |
Considering the variant on chromosome 3, location 48467513, involving gene TREX1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Aicardi-Goutieres_syndrome_1', 'Aicardi_Goutieres_syndrome', 'Chilblain_lupus_1', 'Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations', 'Systemic_lupus_erythematosus', 'TREX1-related_disorder'] | GAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGAT... | GAACCTCTCCTTTTTGTCTCAGAGGCAGCCCTGGATGACCTCTGTGCCGCGGAAACCGATGTGGAAGACCCCGAGGTGGAGTGTGGCTGAGGCCCTGAGTGTCCAGCCACATGGTGGCACCAGCACCACTCCTTTCCTTACCACATCAACTGATTAAAGCAGTGACCAGCAGGAACTGCCCAGAGAACTGGCTGGCCTTGTTTCCTGAGTCTGATCTGTTTGGCGGAGTGGGAGGGGTGGAGCAGGACCCGGACCCTGAGTGGCTGGGATCCTTCTTCCTGTCCCTGGCTGTTGCTGAGCCCGTCCCCATGGTAACTGAT... | pathogenic | 67,941 |
Gene COL7A1 (collagen type VII alpha 1 chain) variant at chromosome position 48565090 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAGGTTGGGATAGGGGTCACTGGGACAACCAGGACTCTGCCCAACATCAGGACCATCAGCAACAGCAGAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAG... | AAGGTTGGGATAGGGGTCACTGGGACAACCAGGACTCTGCCCAACATCAGGACCATCAGCAACAGCAGAGCACACCTGGTCATCGTGAGGTCAGGCTGCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAG... | benign | 67,947 |
Determine whether the variant at chromosome 3, position 48565187, in gene COL7A1 (collagen type VII alpha 1 chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa'] | GCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCC... | GCAAGGAGAAAATGGGCTCAGGGCAGGGGCTCTGGTCAACTGGGGTCCATGGACAGAGACAGATGGCAAGGGCAGAGTGACAGAGCGGGGGATGGAGAGAGAGGAAGACACCGAGAAAGGGGTTAGAGAGGCCAGGCCAGGCCAGAGACAGAGAAGGGGAGACAAGAGGAGAGCCAGAATGAGACAAAGAGGCAGAAAGCAAGACAGAAAAAAAGAAACAAAGAAATCCAGAGACAGAGGGACAGCAAGAGAGGGAGATGAAGGAGATGGAGGCAGAGCAAAATGGAGACTAGAAGAAAAAGACAGACAGAAACCATCCC... | pathogenic | 67,949 |
Benign or pathogenic: chromosome 3, position 48566302, gene COL7A1 (collagen type VII alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic | TAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAG... | TAGACCCACGGGACCAAGTCACTGAAATAACGGACGTGCACACGCACGCTCACGTGCACACAAGCCTCTAGCACCAAGGGGAGGGACAGTGGGGTTCTGCTGAGACCCCGACTCCTCCAGGGGATGCTGAATCTCAGCTCATTATCTGGGCCTCAGTCCTGGGCAGTACCTGGTGAGGACAGGTTGGAAACGGTCGTCAGCCATCTGACCTTCCCCGGAGACGCTCAGGCAGAGGCACCGCCAAGGGGAGGGAGCGGAGGCTACAACAGGAAGTGGGGGCTCTGACCTCAGAGGGGTCCATACTTAGGTCTTTAAAGGAG... | pathogenic | 67,955 |
Is chromosome 3, position 48566691, gene COL7A1 (collagen type VII alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | GTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCA... | GTCTGCCCCAGGTCCCCTACTGCGAGGGAGCGTCTCCTCCAGGACCCTGACCTGGAACCCTGGCCCAAGGACTCCTCCCCCAGAACCCGATCCAGGCAGGCTCAGTGCCCAGTTCCCCACGGTGGGGGCTCAGCCCATACCTGTCCCCTGGCTCTGGACCACCCGGGGTGGGCAGCGGCGCTCGCAGGCCTCACGGGTCCCAAAACGGTTGGCATTCCCTCCACAGCCACCATAGACAAAAGGGTGACAGGCCTCTGTGCTGCCTGTCACAGCCCGATGGTACCAGCGCAGGGTGTAGGCAGTGCAGGAGCCCTCATCCA... | pathogenic | 67,962 |
Variant chromosome 3, position 48567143, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Disease(s)? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | CCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCC... | CCCCCCATTCTCACCATCACTATCCCAAGGAGCTTCAGGGTCCTGGTACTCCTCCACAGAATACTCGGAGTATTCAGAGTACTCATCATCCTCAGGGGGTACCCGCTCTGCAGGTAGGGCAGGGTGTGCTGGGAGCAGTGGCTGCTGGCCCCGGGGCAAGGTGGGCAGCACTGATTTCCACTGTGTGCACACAGTGCCCATGCGTGTGCCCTGCATGCAGACCCTACGTGCTTGGCGTGTGCCCTGCATTCATGGACACCCATGTGCGTGTCTCGGCCCCACCCATAGCTGCCCCACGGGTTCAGCTGTCCTCACCTTCC... | pathogenic | 67,973 |
Mutation at chromosome 3, position 48567642, within COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACAC... | GGCCTGGGGTGAAGAAAGTTCTGGGAGTAGAAAACTACTCACGTGATCCAGATGCGATGAACTGGCCCTGGCAGGCTAGAGGGGGCAGAGAGGGATAGAGAGACAATGACAGAGAGAAGGATGGGAAGATGGAGAGACAGACAGAGACACACAGGCAGAGGGGTAGAGATACACAAAGAGATAGCAGGAGAGGGTAACAGGAGAGAGAGGAAGAGAGAGGGTGGGAGGTAGATAGAGAGATGGAAAAAGAGAAGAAGGCAGAGGAGAGGGAAGTTGGGAACAGGCCAACAAAAGGCAAGAGACAGAAGCAGGCCAGACAC... | benign | 67,979 |
Is the chromosome 3, position 48568505 variant in COL7A1 (collagen type VII alpha 1 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['COL7A1-related_disorder', 'Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_dystrophica', 'Epidermolysis_bullosa_pruriginosa', 'Epidermolysis_bullosa_pruriginosa,_autosomal_recessive', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_... | AGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCA... | AGCCCACCCAGGCCCACCCAGGCCCTCCCAGGCCCATCCAGGCCCACACTCACCGTCAGTGCAGCTTCTCCCTTCTCGCCTCGAGGACCGGCAGGCCCTGGCCGCCCCTATGTGCAACAGATGGGACCAGGCTGTGACCTCTGACCTCAGGGACAACAGAAGTCACCCCGATCTCTGACCCAAGCCTTGGAATCCCTACTCACCTGCTCCCCTCTCTCGCCAGGAGCTCCAGGGACCCCAGGAGCCCCCACCACTCTCTCTCCGGGGGGACCTCGCTCACCCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCA... | pathogenic | 67,985 |
Variant in gene COL7A1 (collagen type VII alpha 1 chain), located at chromosome 3 position 48568785: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Epidermolysis_bullosa_dystrophica'] | CCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGA... | CCTGTCAGACACAGGGACCAAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGA... | pathogenic | 67,987 |
For chromosome 3, position 48568833, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa'] | CAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCA... | CAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCA... | pathogenic | 67,992 |
Variant at chromosome position 48569734, chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa'] | CATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGT... | CATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGTGATTCCCAGACACCTCACTCTGTGACCCCCTTCACCCTGAAACTAACTCTCCAAACAGGCCTCAGCTACTCCAACCTCTGACCCAGT... | pathogenic | 68,000 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 48570495, gene COL7A1 (collagen type VII alpha 1 chain). What disease(s) is it linked to if pathogenic? | pathogenic | GACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGG... | GACGGGGGCCCTCTGGGGACAGGGGGCCCCTGTGGGAGCAGGGGCATCTTACCGGGTCACCAGGGATCCCTGCTGCACCAGGTTGACCCTGTGAGAAACACAGATGGGGGAGCCCTTCAGTGGGACTGTCCCCAACACTGGCCCATCCGCTGCATGTGTGGCCACTCAGATGCTCAGCGGCCAGGGCCCAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGG... | pathogenic | 68,012 |
Assess the variant on chromosome 3, position 48570888, impacting COL7A1 (collagen type VII alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa'] | GCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTC... | GCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTC... | pathogenic | 68,019 |
Does the genetic variant at chromosome 3, position 48571110, impacting gene COL7A1 (collagen type VII alpha 1 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | TGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCA... | TGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCA... | pathogenic | 68,024 |
Is the genetic change at chromosome 3, position 48572942, within gene COL7A1 (collagen type VII alpha 1 chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa', 'Transient_bullous_dermolysis_of_the_newborn'] | TCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACC... | TCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACC... | pathogenic | 68,040 |
The mutation impacting COL7A1 (collagen type VII alpha 1 chain) on chromosome 3 at position 48573191: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | CCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAG... | CCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAG... | pathogenic | 68,044 |
Does the variant impacting COL7A1 (collagen type VII alpha 1 chain) on chromosome 3, position 48573191, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | CCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAG... | CCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAG... | pathogenic | 68,045 |
A genetic alteration at chromosome 3, position 48573231, in gene COL7A1 (collagen type VII alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['COL7A1-related_disorder'] | ATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGT... | ATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTGGGAGT... | pathogenic | 68,047 |
The mutation impacting COL7A1 (collagen type VII alpha 1 chain) on chromosome 3 at position 48573864: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['COL7A1-related_disorder', 'Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_dystrophica', 'Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Inborn_genetic_d... | CAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCC... | CAGAGCTCAGAGTGTGGAAGCCGACAGTGTGTGGCTCCCTGTGATCCAGAGAGCAGGCTCCTGGATGTTGGGACATGCAGCCCGACTCAGGGGCTCAGACATGTGCCCCGGCCCAAGAGTGGCCCCTTATGCCCGCCATCACACTCCTCAGGCCAGGCTCGCCCTTGCCTAGGCCCCGGACTCACATCTTCCCCAGGGTCTCCGGGCTCCCCTGCACGGCCAGCTTCACCCTGCACAGAATGGCAGGTGAGGGGTGTCTGGACTGAGCCTTCTCTGCTCAGTAGTCAGGCCCCAGGGCCAACCCACCTCACCTTCTCGCC... | pathogenic | 68,050 |
Does the variant impacting COL7A1 (collagen type VII alpha 1 chain) on chromosome 3, position 48574722, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | TCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGA... | TCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGCTGGGCACCACACCCTAGCGAGCTGCCCCCAGAACACATACTGGCACACCAGGGCTCCCTCTGTCTCCATCTTTTCCACTGGCACCATCTCGACCTGGGGCTCCCGGCTTCCCTGTCTCCCCCTGAGAGGGAAGAGCTCTGTCAGGGCTGCCTGTCGACCCTTGACCCCTGGA... | pathogenic | 68,056 |
Is the genetic mutation found on chromosome 3 at position 48575073, within the gene COL7A1 (collagen type VII alpha 1 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormality_of_the_skin', 'Recessive_dystrophic_epidermolysis_bullosa'] | TGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCT... | TGTCCAGGCAAACCTGGAGACCCCTGTGGACCCTGACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCT... | pathogenic | 68,059 |
Considering the variant on chromosome 3, location 48575437, involving gene COL7A1 (collagen type VII alpha 1 chain), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Epidermolysis_bullosa_dystrophica', 'Nonsyndromic_congenital_nail_disorder_8', 'Recessive_dystrophic_epidermolysis_bullosa'] | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | pathogenic | 68,077 |
Clinically, how would you classify the variant at chromosome 3, position 48575437, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Epidermolysis_bullosa_dystrophica'] | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | pathogenic | 68,079 |
Considering the genetic mutation at chromosome 3, position 48576404, impacting COL7A1 (collagen type VII alpha 1 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | CCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCA... | CCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCA... | pathogenic | 68,096 |
The mutation in gene COL7A1 (collagen type VII alpha 1 chain) at chromosome 3, position 48576537—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | GGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTT... | GGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTT... | pathogenic | 68,098 |
Classify the chromosome 3 variant at position 48576709 affecting gene COL7A1 (collagen type VII alpha 1 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | TGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCAC... | TGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCAC... | pathogenic | 68,100 |
Is the chromosome 3, position 48576910 variant in COL7A1 (collagen type VII alpha 1 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Epidermolysis_bullosa_dystrophica'] | ACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTG... | ACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTG... | pathogenic | 68,103 |
Gene mutation in COL7A1 (collagen type VII alpha 1 chain) at chromosome 3, position 48579367—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | CTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTT... | CTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTT... | pathogenic | 68,116 |
Determine if the mutation at chromosome 3, position 48579489 in gene COL7A1 (collagen type VII alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_dystrophica', 'Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', '... | AGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCA... | AGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCA... | pathogenic | 68,120 |
The genetic variant at chromosome 3, position 48579806, affecting gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Epidermolysis_bullosa_dystrophica', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa'] | TCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAAT... | TCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAAT... | pathogenic | 68,125 |
Is the genetic mutation found on chromosome 3 at position 48580581, within the gene COL7A1 (collagen type VII alpha 1 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | TAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACT... | TAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACT... | pathogenic | 68,131 |
Variant chromosome 3, position 48580617, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Disease(s)? | pathogenic | ACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCC... | ACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCC... | pathogenic | 68,134 |
Variant on chromosome 3, at position 48581137, affecting COL7A1 (collagen type VII alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Generalized_dominant_dystrophic_epidermolysis_bullosa'] | CGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGG... | CGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGG... | pathogenic | 68,138 |
The chromosome 3, position 48581587 genetic variant in gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Epidermolysis_bullosa'] | CAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGA... | CAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGA... | pathogenic | 68,143 |
Chromosome 3, position 48581911, gene COL7A1 (collagen type VII alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa'] | GAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCA... | GAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCA... | pathogenic | 68,147 |
Variant at chromosome position 48581912, chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | AGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCAT... | AGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCAT... | pathogenic | 68,148 |
Variant at chromosome position 48582508, chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | GTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCC... | GTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCC... | pathogenic | 68,154 |
Does the variant impacting COL7A1 (collagen type VII alpha 1 chain) on chromosome 3, position 48582617, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Epidermolysis_bullosa_dystrophica'] | GCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGG... | GCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGG... | pathogenic | 68,156 |
Evaluate the clinical significance of the mutation at chromosome 3, position 48582654 in gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | CCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCAC... | CCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCAC... | pathogenic | 68,157 |
Variant in COL7A1 (collagen type VII alpha 1 chain), chromosome 3, position 48583014—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | AGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTC... | AGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTC... | pathogenic | 68,159 |
Determine if the mutation at chromosome 3, position 48583944 in gene COL7A1 (collagen type VII alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Epidermolysis_bullosa_dystrophica'] | CCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCC... | CCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCC... | pathogenic | 68,167 |
Determine if the mutation at chromosome 3, position 48584366 in gene COL7A1 (collagen type VII alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Epidermolysis_bullosa_dystrophica'] | CTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAG... | CTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAG... | pathogenic | 68,171 |
Classify the chromosome 3 variant at position 48585039 affecting gene COL7A1 (collagen type VII alpha 1 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | GCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATC... | GCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATC... | pathogenic | 68,183 |
Chromosome 3, position 48585610, gene COL7A1 (collagen type VII alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bu... | ACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAG... | ACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAG... | pathogenic | 68,188 |
Located at chromosome 3 position 48585617, the variant affecting gene COL7A1 (collagen type VII alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | GACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCA... | GACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCA... | pathogenic | 68,189 |
Determine if the mutation at chromosome 3, position 48585690 in gene COL7A1 (collagen type VII alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | GACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGA... | GACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGA... | pathogenic | 68,191 |
Benign or pathogenic: chromosome 3, position 48586160, gene COL7A1 (collagen type VII alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | AGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCC... | AGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCC... | pathogenic | 68,196 |
A genetic variant on chromosome 3, position 48586161, affects the gene COL7A1 (collagen type VII alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | GATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCT... | GATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCT... | pathogenic | 68,197 |
Is the variant located on chromosome 3 at position 48587099, gene COL7A1 (collagen type VII alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Epidermolysis_bullosa_dystrophica'] | TCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGG... | TCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGG... | pathogenic | 68,203 |
A genetic variant on chromosome 3, position 48587845, affects the gene COL7A1 (collagen type VII alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic | CATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCA... | CATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCA... | pathogenic | 68,215 |
Variant at chromosome 3, position 48587866, gene COL7A1 (collagen type VII alpha 1 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Epidermolysis_bullosa_dystrophica', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa'] | AGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTT... | AGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTT... | pathogenic | 68,218 |
Clinical significance of chromosome 3, position 48588283, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa'] | CCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCA... | CCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCA... | pathogenic | 68,224 |
The mutation impacting COL7A1 (collagen type VII alpha 1 chain) on chromosome 3 at position 48588383: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | AAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGT... | AAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGT... | pathogenic | 68,227 |
Considering the variant on chromosome 3, location 48588757, involving gene COL7A1 (collagen type VII alpha 1 chain), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['COL7A1-related_disorder', 'Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_dystrophica', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bull... | AGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCT... | AGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCT... | pathogenic | 68,231 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 48588765, gene COL7A1 (collagen type VII alpha 1 chain): what disease(s) if pathogenic? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | AGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAG... | AGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAG... | pathogenic | 68,233 |
For chromosome 3, position 48588988, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | AGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTA... | AGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTA... | pathogenic | 68,237 |
Clinical significance of chromosome 3, position 48589327, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Epidermolysis_bullosa_dystrophica', 'Recessive_dystrophic_epidermolysis_bullosa'] | CCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGA... | CCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGA... | pathogenic | 68,239 |
A genetic alteration at chromosome 3, position 48590694, in gene COL7A1 (collagen type VII alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Epidermolysis_bullosa_dystrophica', 'Transient_bullous_dermolysis_of_the_newborn'] | AGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCA... | AGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCA... | pathogenic | 68,253 |
Benign or pathogenic: chromosome 3, position 48591510, gene COL7A1 (collagen type VII alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | TCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATA... | TCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATA... | pathogenic | 68,258 |
Clinical significance of chromosome 3, position 48591726, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa'] | GGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGA... | GGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGA... | pathogenic | 68,262 |
The genetic variant at chromosome 3, position 48592658, affecting gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Epidermolysis_bullosa_dystrophica', 'Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive'] | AGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTG... | AGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTG... | pathogenic | 68,271 |
Clinical significance of chromosome 3, position 48593373, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | TTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCAC... | TTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCAC... | pathogenic | 68,285 |
The genetic variant at chromosome 3, position 48593378, affecting gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['COL7A1-related_disorder', 'Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_dystrophica', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bull... | AAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACT... | AAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACT... | pathogenic | 68,286 |
Evaluate the clinical significance of the mutation at chromosome 3, position 48593399 in gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Recessive_dystrophic_epidermolysis_bullosa'] | GGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTC... | GGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTC... | pathogenic | 68,287 |
Does the genetic variant at chromosome 3, position 48593601, impacting gene COL7A1 (collagen type VII alpha 1 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_b... | GCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCC... | GCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCC... | pathogenic | 68,291 |
Evaluate this variant at chromosome 3, position 48593637, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Epidermolysis_bullosa_dystrophica', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_bullous_dermolysis_of_the_newborn'] | GGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGC... | GGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGC... | pathogenic | 68,292 |
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