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 |
|---|---|---|---|---|---|
Does the chromosome 13 mutation at position 51968501 within gene ATP7B (ATPase copper transporting beta) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Wilson_disease'] | ATGTTGTGTATCCTGACATGGGAAAGGGAAGTCTTAAGTGTGACGTGCTATTCCTGGGATATGTATTAGGCAAATATGAAGCAAACAGACAATTCACTCTTCTGAGTATCAGTGGTCAGCACTTCCTAGAAGACTAGTTAAATGCAGAAATTCACATAAAATCTGAATATGTGATGACAATGCAACTATTGATACAGCATGGTTTTTTTAAAAAAAGAACACTACAGACACAGCATGCTGCCATGCCGACGTAGACCCTGCTCTGCACGCCAGCCCGCCCGCACCCACCATGGCCACAGTTCAGCAGCTGGAAGGAAGAT... | ATGTTGTGTATCCTGACATGGGAAAGGGAAGTCTTAAGTGTGACGTGCTATTCCTGGGATATGTATTAGGCAAATATGAAGCAAACAGACAATTCACTCTTCTGAGTATCAGTGGTCAGCACTTCCTAGAAGACTAGTTAAATGCAGAAATTCACATAAAATCTGAATATGTGATGACAATGCAACTATTGATACAGCATGGTTTTTTTAAAAAAAGAACACTACAGACACAGCATGCTGCCATGCCGACGTAGACCCTGCTCTGCACGCCAGCCCGCCCGCACCCACCATGGCCACAGTTCAGCAGCTGGAAGGAAGAT... | pathogenic | 215,874 |
A mutation at chromosome position 51970511 on chromosome 13 in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Wilson_disease'] | TCGGAGCCTGCGTAGTCCTCCATGACTGCTGCCTCAAAACCCAGGTCCTGGATGAACTGAGCTATCTCGAGGGGCTGGATGACCTCTGGGTCATACTTGATCTCTGCCTTTCCTGCCATCAAGGCAACCAACACGGAGAGAACACCTGGAACCATCAGGTCATGGCTGTAACACTCTGGGTGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAA... | TCGGAGCCTGCGTAGTCCTCCATGACTGCTGCCTCAAAACCCAGGTCCTGGATGAACTGAGCTATCTCGAGGGGCTGGATGACCTCTGGGTCATACTTGATCTCTGCCTTTCCTGCCATCAAGGCAACCAACACGGAGAGAACACCTGGAACCATCAGGTCATGGCTGTAACACTCTGGGTGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAA... | pathogenic | 215,891 |
Mutation at chromosome 13, position 51970522, within ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Wilson_disease'] | GTAGTCCTCCATGACTGCTGCCTCAAAACCCAGGTCCTGGATGAACTGAGCTATCTCGAGGGGCTGGATGACCTCTGGGTCATACTTGATCTCTGCCTTTCCTGCCATCAAGGCAACCAACACGGAGAGAACACCTGGAACCATCAGGTCATGGCTGTAACACTCTGGGTGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCT... | GTAGTCCTCCATGACTGCTGCCTCAAAACCCAGGTCCTGGATGAACTGAGCTATCTCGAGGGGCTGGATGACCTCTGGGTCATACTTGATCTCTGCCTTTCCTGCCATCAAGGCAACCAACACGGAGAGAACACCTGGAACCATCAGGTCATGGCTGTAACACTCTGGGTGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCT... | pathogenic | 215,892 |
Variant in ATP7B (ATPase copper transporting beta), chromosome 13, position 51970598—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Wilson_disease'] | GGGTCATACTTGATCTCTGCCTTTCCTGCCATCAAGGCAACCAACACGGAGAGAACACCTGGAACCATCAGGTCATGGCTGTAACACTCTGGGTGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCTGGTCTCTTACCCAGACCAACCAAATCAGAGTATCCCAGGGTAGGTGGCAGGCATCTTTTTTTCTTTTTTCTTTTTT... | GGGTCATACTTGATCTCTGCCTTTCCTGCCATCAAGGCAACCAACACGGAGAGAACACCTGGAACCATCAGGTCATGGCTGTAACACTCTGGGTGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCTGGTCTCTTACCCAGACCAACCAAATCAGAGTATCCCAGGGTAGGTGGCAGGCATCTTTTTTTCTTTTTTCTTTTTT... | pathogenic | 215,896 |
Evaluate if the mutation on chromosome 13 at position 51970657 in ATP7B (ATPase copper transporting beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Wilson_disease'] | TGGAACCATCAGGTCATGGCTGTAACACTCTGGGTGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCTGGTCTCTTACCCAGACCAACCAAATCAGAGTATCCCAGGGTAGGTGGCAGGCATCTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTGCCCAGGCTGGGTACAGTAGCATGATCT... | TGGAACCATCAGGTCATGGCTGTAACACTCTGGGTGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCTGGTCTCTTACCCAGACCAACCAAATCAGAGTATCCCAGGGTAGGTGGCAGGCATCTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTGCCCAGGCTGGGTACAGTAGCATGATCT... | pathogenic | 215,899 |
Is the genetic mutation found on chromosome 13 at position 51970691, within the gene ATP7B (ATPase copper transporting beta), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Wilson_disease'] | TGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCTGGTCTCTTACCCAGACCAACCAAATCAGAGTATCCCAGGGTAGGTGGCAGGCATCTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTGCCCAGGCTGGGTACAGTAGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAG... | TGGGCAGGGCCTCTAGGTTGACACAGTCAATATAACCGAACAAAGAAACACATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCTGGTCTCTTACCCAGACCAACCAAATCAGAGTATCCCAGGGTAGGTGGCAGGCATCTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTGCCCAGGCTGGGTACAGTAGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAG... | pathogenic | 215,905 |
Determine if the mutation at chromosome 13, position 51970741 in gene ATP7B (ATPase copper transporting beta) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Wilson_disease'] | CATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCTGGTCTCTTACCCAGACCAACCAAATCAGAGTATCCCAGGGTAGGTGGCAGGCATCTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTGCCCAGGCTGGGTACAGTAGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAGGTGCGTGCC... | CATCTTCCCAGAATCCTCTAGAACAGCAGTTTTCAAACACTGTTTGAAAATGAGGCTGCACATGAGGCTTGCTTGGAAAGCCTTCGACAATCACGATGTCTGGTCTCTTACCCAGACCAACCAAATCAGAGTATCCCAGGGTAGGTGGCAGGCATCTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTGCCCAGGCTGGGTACAGTAGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAGGTGCGTGCC... | pathogenic | 215,907 |
The chromosome 13, position 51973976 genetic variant in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Wilson_disease'] | CTCTTCTTAGTGTTGGGCCCGCTGCTCCCTACAGTACCGAGCTCCAGCCAAAAGGCTGAGGAAGCCAGCCATGTCCTGGTCCAGTCCACAGAGACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCC... | CTCTTCTTAGTGTTGGGCCCGCTGCTCCCTACAGTACCGAGCTCCAGCCAAAAGGCTGAGGAAGCCAGCCATGTCCTGGTCCAGTCCACAGAGACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCC... | pathogenic | 215,914 |
Variant in ATP7B (ATPase copper transporting beta), chromosome 13, position 51974014—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Wilson_disease'] | GAGCTCCAGCCAAAAGGCTGAGGAAGCCAGCCATGTCCTGGTCCAGTCCACAGAGACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGA... | GAGCTCCAGCCAAAAGGCTGAGGAAGCCAGCCATGTCCTGGTCCAGTCCACAGAGACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGA... | pathogenic | 215,916 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 51974047, gene ATP7B (ATPase copper transporting beta): what disease(s) if pathogenic? | pathogenic; ['Wilson_disease'] | TGTCCTGGTCCAGTCCACAGAGACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCAT... | TGTCCTGGTCCAGTCCACAGAGACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCAT... | pathogenic | 215,920 |
Is the genetic change at chromosome 13, position 51974060, within gene ATP7B (ATPase copper transporting beta) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | TCCACAGAGACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTG... | TCCACAGAGACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTG... | pathogenic | 215,922 |
Gene mutation in ATP7B (ATPase copper transporting beta) at chromosome 13, position 51974068—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Wilson_disease'] | GACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAG... | GACACGCACGGGCAGGGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAG... | pathogenic | 215,923 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 51974083, gene ATP7B (ATPase copper transporting beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Wilson_disease'] | GGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCC... | GGCCCATGTCTGGGACCTAATCGGTTACAACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCC... | pathogenic | 215,926 |
Chromosome 13, position 51974111, gene ATP7B (ATPase copper transporting beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Wilson_disease'] | AACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACT... | AACACACCACCCACACAGCTGCCCCTCACAACATGTGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACT... | pathogenic | 215,927 |
Chromosome 13, position 51974146, gene ATP7B (ATPase copper transporting beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Wilson_disease'] | TGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCA... | TGCCCCTTCCCTCCTTATCTTCAGCATTTCTCTCAACCATCTCCACTCACCTATCATCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCA... | pathogenic | 215,930 |
Gene mutation in ATP7B (ATPase copper transporting beta) at chromosome 13, position 51974202—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Wilson_disease'] | TCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCC... | TCCTCTTTATCCCTAATCTAAGCTACTAGTGGTCTCCACCCTTACCAGCAGCCAAGCTGGGCTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCC... | pathogenic | 215,934 |
Is the genetic variant on chromosome 13, position 51974263, gene ATP7B (ATPase copper transporting beta), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Wilson_disease'] | CTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACAC... | CTCCCACCTTCCCAGGGTCCTGAAGCAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACAC... | pathogenic | 215,940 |
Determine if the mutation at chromosome 13, position 51974288 in gene ATP7B (ATPase copper transporting beta) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Wilson_disease'] | CAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTG... | CAGCTGCCGAGGCCTCCAATGGCCTCCCCTAGTTAACCCGCGAAGATACGATTCAGACCTTGGCCTCTGCGGCTCGCATTATGTCCAGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTG... | pathogenic | 215,942 |
Regarding the variant found on chromosome 13 at position 51974374 in gene ATP7B (ATPase copper transporting beta): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Wilson_disease'] | AGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGT... | AGGGTGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGT... | pathogenic | 215,949 |
Evaluate this variant at chromosome 13, position 51974378, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Wilson_disease'] | TGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTG... | TGACTAGGAGACCCCTCCTCCTCCCTCTAATTCTTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTG... | pathogenic | 215,950 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 51974411, gene ATP7B (ATPase copper transporting beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Wilson_disease'] | TTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTG... | TTTCCCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTG... | pathogenic | 215,953 |
Is the chromosome 13, position 51974415 variant in ATP7B (ATPase copper transporting beta) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Wilson_disease'] | CCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTT... | CCATCTCACAATCACTCTTTCTAGGTCTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTT... | pathogenic | 215,954 |
The mutation impacting ATP7B (ATPase copper transporting beta) on chromosome 13 at position 51974441: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | CTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATG... | CTCTGTCATCTTCCCACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATG... | pathogenic | 215,955 |
Regarding the variant at chromosome 13 and position 51974456, affecting gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Wilson_disease'] | ACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCAT... | ACACTCTGCATTTCCGGCCCCACACTCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCAT... | pathogenic | 215,957 |
Mutation at chromosome 13, position 51974481, within ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Wilson_disease'] | TCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGC... | TCTCCCTCAAAATTCAAGGCCCTTCTATCCCACTGTCCTCCAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGC... | pathogenic | 215,961 |
Variant chromosome 13, position 51974521, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease(s)? | pathogenic; ['Wilson_disease'] | CAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAG... | CAGCATCTCAGCTAAAGGCTCATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAG... | pathogenic | 215,962 |
Clinically, how would you classify the variant at chromosome 13, position 51974542, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Wilson_disease'] | ATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAA... | ATCCCAGTTACCCCTTTCCTCCATGGCCCTCCCCATCACACACCCCTCTTGGTGACCCCAAGCTTGGTGGAGCTGCCCTCCTGAATGTCTTTCAAACCCACCTCTTTCTCACCCGGCCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAA... | pathogenic | 215,963 |
Is chromosome 13, position 51974658, gene ATP7B (ATPase copper transporting beta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Wilson_disease'] | CCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCC... | CCTCCTACGTGGTCTCATTGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCC... | pathogenic | 215,967 |
Clinical classification of chromosome 13, position 51974676, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Wilson_disease'] | TGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCA... | TGCCTCCATGGACACTGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCA... | pathogenic | 215,969 |
Gene ATP7B (ATPase copper transporting beta) variant at chromosome position 51974691 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Wilson_disease'] | TGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCAT... | TGTACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCAT... | pathogenic | 215,971 |
Evaluate this variant at chromosome 13, position 51974694, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Wilson_disease'] | ACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTC... | ACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTC... | pathogenic | 215,972 |
Chromosome 13, position 51974694, gene ATP7B (ATPase copper transporting beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['ATP7B-related_disorder', 'Wilson_disease'] | ACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTC... | ACTGTGACACCACACCAGTCTTCTAAAATATAATCTGACTTCGTGCTTCCTCTGATTAAAACCCATGATGGTGGCTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTC... | pathogenic | 215,973 |
Does the chromosome 13 mutation at position 51974768 within gene ATP7B (ATPase copper transporting beta) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Wilson_disease'] | CTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATA... | CTGAGCATAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATA... | pathogenic | 215,978 |
Considering the genetic mutation at chromosome 13, position 51974830, impacting ATP7B (ATPase copper transporting beta): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | TAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAA... | TAGAGGCCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAA... | pathogenic | 215,983 |
Variant at chromosome 13, position 51974836, gene ATP7B (ATPase copper transporting beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Wilson_disease'] | CCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCA... | CCAAGAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCA... | pathogenic | 215,984 |
A mutation at chromosome position 51974840 on chromosome 13 in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Wilson_disease'] | GAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTA... | GAGTTCAAGACCAGCCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTA... | pathogenic | 215,985 |
Does the chromosome 13 mutation at position 51974854 within gene ATP7B (ATPase copper transporting beta) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Wilson_disease'] | CCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTT... | CCTGGGAAACACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTT... | pathogenic | 215,986 |
Regarding the variant at chromosome 13 and position 51974863, affecting gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Wilson_disease'] | CACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCAT... | CACAGCAACACTCCGTCTCTACAAAAAAATAAAAATAAAAAATGAGCCCGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCAT... | pathogenic | 215,988 |
Variant chromosome 13, position 51974928, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease(s)? | pathogenic; ['Wilson_disease'] | CCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGA... | CCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGCGAGGATCACCTGAGCCCAAAGGTTCAAGGATGCAGTGACCTATGATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGA... | pathogenic | 215,993 |
Variant at chromosome position 51975005, chromosome 13, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wilson_disease'] | GATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAG... | GATCATGTCACTATCCTCCATCTTGGACAACAGGGCAAGACCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAG... | pathogenic | 215,996 |
Considering the genetic mutation at chromosome 13, position 51975045, impacting ATP7B (ATPase copper transporting beta): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | CCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCG... | CCGTGTCCCTAAAAAAATTAAAAAATTTTTTAATTAAAAAATATAAAAGCCTGGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCG... | pathogenic | 215,999 |
Chromosome 13, position 51975097, gene ATP7B (ATPase copper transporting beta): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Wilson_disease'] | GGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCGCATTCAAGTCAGCCATGGTTTGACTGTGTCCCCCAAATTTCATGTGTTGGAA... | GGTGGCTCCCTCACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCGCATTCAAGTCAGCCATGGTTTGACTGTGTCCCCCAAATTTCATGTGTTGGAA... | pathogenic | 216,001 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 51975108, gene ATP7B (ATPase copper transporting beta): what disease(s) if pathogenic? | pathogenic; ['Wilson_disease'] | CACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCGCATTCAAGTCAGCCATGGTTTGACTGTGTCCCCCAAATTTCATGTGTTGGAAACATAATCCCC... | CACCTTTACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCGCATTCAAGTCAGCCATGGTTTGACTGTGTCCCCCAAATTTCATGTGTTGGAAACATAATCCCC... | pathogenic | 216,003 |
Clinical significance of chromosome 13, position 51975115, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | ACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCGCATTCAAGTCAGCCATGGTTTGACTGTGTCCCCCAAATTTCATGTGTTGGAAACATAATCCCCAATGTGG... | ACCTCTTCTCTTATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCGCATTCAAGTCAGCCATGGTTTGACTGTGTCCCCCAAATTTCATGTGTTGGAAACATAATCCCCAATGTGG... | pathogenic | 216,004 |
Is the chromosome 13, position 51975127 variant in ATP7B (ATPase copper transporting beta) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Wilson_disease'] | ATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCGCATTCAAGTCAGCCATGGTTTGACTGTGTCCCCCAAATTTCATGTGTTGGAAACATAATCCCCAATGTGGCAGTGTTAAAAG... | ATATTCATCAAACAGGGAGAAAAAAATCATTTATAAATCCTTTCCTTAACTCTCATTTTTACCAGCATGGTCTCTAGGTGATGAGACTAAGGTTCTGTTGTTTAGCAGTAAAATCTTTTGAGAAGGTGATAATAGTTCTCTTGGTAAGAAAAGGGCCTGGATGGTCCCACAGTGCTCTATTTCAGGATACAGAATCAGAATTCTCTCCAGAAAAGAAGCCCAAATCCAAGGAGGTTCGCATTCAAGTCAGCCATGGTTTGACTGTGTCCCCCAAATTTCATGTGTTGGAAACATAATCCCCAATGTGGCAGTGTTAAAAG... | pathogenic | 216,007 |
Variant at chromosome position 52011286, chromosome 13, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wilson_disease'] | ACAAAAGTAGTCCTACTGTGAGGGAGATGAGCATCTGTTGAGAACCTCCATTGACGCAGCCAGTTTTTCTCAGAGGGCCCTTCCTTGTCTGGATCTGGGTGAGATTAGCTGAATTTGGCACCTTCAAGGTCTGAAACATTTCTTCTCCCTGAGGGCTGCTACCTGTGAGGTTTCATCTACATAAGACCACCTTTGCTAGCCAGGTCTCCTCTTCTCTCCCTCCTATAACCTGATTTACAACCATAACCTGTTTTTGGCCAAGCTTAGAGCCCCCACACTTTCTGTAACCTCAGGATAGTATAATTGTGGCAACCACCTTG... | ACAAAAGTAGTCCTACTGTGAGGGAGATGAGCATCTGTTGAGAACCTCCATTGACGCAGCCAGTTTTTCTCAGAGGGCCCTTCCTTGTCTGGATCTGGGTGAGATTAGCTGAATTTGGCACCTTCAAGGTCTGAAACATTTCTTCTCCCTGAGGGCTGCTACCTGTGAGGTTTCATCTACATAAGACCACCTTTGCTAGCCAGGTCTCCTCTTCTCTCCCTCCTATAACCTGATTTACAACCATAACCTGTTTTTGGCCAAGCTTAGAGCCCCCACACTTTCTGTAACCTCAGGATAGTATAATTGTGGCAACCACCTTG... | pathogenic | 216,013 |
A mutation at chromosome position 52011455 on chromosome 13 in gene ATP7B: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GTTTCATCTACATAAGACCACCTTTGCTAGCCAGGTCTCCTCTTCTCTCCCTCCTATAACCTGATTTACAACCATAACCTGTTTTTGGCCAAGCTTAGAGCCCCCACACTTTCTGTAACCTCAGGATAGTATAATTGTGGCAACCACCTTGCCTTCCTTTGAGATCTTATGTTGTAAGACTCTCACGGCACGTTAGTAAATGTGTATGCCTTCTCTCCTATTAATCTGCCATTTGTCAGTTGATTTTTCAGTGACGCTTCACGGGGCACAAAAGTTTTCCCTTAACTCCTACGCTATACATTTGTTTATCCCTTTTTTTT... | GTTTCATCTACATAAGACCACCTTTGCTAGCCAGGTCTCCTCTTCTCTCCCTCCTATAACCTGATTTACAACCATAACCTGTTTTTGGCCAAGCTTAGAGCCCCCACACTTTCTGTAACCTCAGGATAGTATAATTGTGGCAACCACCTTGCCTTCCTTTGAGATCTTATGTTGTAAGACTCTCACGGCACGTTAGTAAATGTGTATGCCTTCTCTCCTATTAATCTGCCATTTGTCAGTTGATTTTTCAGTGACGCTTCACGGGGCACAAAAGTTTTCCCTTAACTCCTACGCTATACATTTGTTTATCCCTTTTTTTT... | benign | 216,018 |
Variant on chromosome 13, at position 52011758, affecting ATP7B: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Wilson_disease'] | GTTTATCCCTTTTTTTTTCCTATCTCCAACTAGGATGTAAATTCATGAGGGCAAGGTCTCGGTCCTACCTAAATCCCCAGTGTCTAAAACTTTGAGTACTATGTGTTTGAGCACATAGTACACACAAAAAAATTTGTTGAATAAATGTTGATAACAAGATATAATACCTACATCAAAGGGTTTTTGTGAGGATTAAACGCGAGAGTGCACATAGAGGGATATGAGTGCCTAACACAATGCCCAGCACACAGTAAGCTCAATAACGCTGGTCAACGCTATTATCAGAGGATTCCAGAAGACAGGTCAACATGGGCAGGAGC... | GTTTATCCCTTTTTTTTTCCTATCTCCAACTAGGATGTAAATTCATGAGGGCAAGGTCTCGGTCCTACCTAAATCCCCAGTGTCTAAAACTTTGAGTACTATGTGTTTGAGCACATAGTACACACAAAAAAATTTGTTGAATAAATGTTGATAACAAGATATAATACCTACATCAAAGGGTTTTTGTGAGGATTAAACGCGAGAGTGCACATAGAGGGATATGAGTGCCTAACACAATGCCCAGCACACAGTAAGCTCAATAACGCTGGTCAACGCTATTATCAGAGGATTCCAGAAGACAGGTCAACATGGGCAGGAGC... | pathogenic | 216,021 |
Chromosome 13, position 52378339, gene THSD1 (thrombospondin type 1 domain containing 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | AGGCCTGGTGGTGAGCACCTGTAGTCCCAGCTTCTCAGGAGGCTGAGGCAGAAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTGCGCTGAGATTGCGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAGCTTAAACTGTAAAAAATTGTAAACTGTAAAAACTATAAAAAATTGTAAACTGTTCTACTTACTTTACATATACCTAATTAATGCATTTTCTGAACAACATGATAAAGTTATGTTTAAGAAAAACATACATGCACCAGTTCTCACGCTGAGGTATC... | AGGCCTGGTGGTGAGCACCTGTAGTCCCAGCTTCTCAGGAGGCTGAGGCAGAAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTGCGCTGAGATTGCGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAGCTTAAACTGTAAAAAATTGTAAACTGTAAAAACTATAAAAAATTGTAAACTGTTCTACTTACTTTACATATACCTAATTAATGCATTTTCTGAACAACATGATAAAGTTATGTTTAAGAAAAACATACATGCACCAGTTCTCACGCTGAGGTATC... | pathogenic | 216,043 |
The mutation impacting PIBF1 (progesterone immunomodulatory binding factor 1) on chromosome 13 at position 72835370: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTGTGATCCTTTGGAGGAAAAGAGGCGTTCTGAGTTTTGGAACTTTCAGCCTTTTTGCACTGGTGTCTCCTCATCTTTGTGGATTTATCTACCTTTGGTCTTTGATGTTGGTGACCTTCAGATGGGGTCTTTGAGTGGACGTGCTATTCCTTTGTGTTTGTTAATTTTCCATCTGACAGGCCCCTTTGCTGCTGGCCTGCTGGAGTTTGCTGGAGGTCCCCTCCCGACCCTGTTTGCCTGGATATCACCAGCGGAGGCTGCAGAACAGCAAAGATTGCTGCCTGATCTTTGCTCTGGAAGCTTCTTCCCAGAGGGGCACC... | TTGTGATCCTTTGGAGGAAAAGAGGCGTTCTGAGTTTTGGAACTTTCAGCCTTTTTGCACTGGTGTCTCCTCATCTTTGTGGATTTATCTACCTTTGGTCTTTGATGTTGGTGACCTTCAGATGGGGTCTTTGAGTGGACGTGCTATTCCTTTGTGTTTGTTAATTTTCCATCTGACAGGCCCCTTTGCTGCTGGCCTGCTGGAGTTTGCTGGAGGTCCCCTCCCGACCCTGTTTGCCTGGATATCACCAGCGGAGGCTGCAGAACAGCAAAGATTGCTGCCTGATCTTTGCTCTGGAAGCTTCTTCCCAGAGGGGCACC... | benign | 216,116 |
Determine whether the variant at chromosome 13, position 72835370, in gene PIBF1 (progesterone immunomodulatory binding factor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTGTGATCCTTTGGAGGAAAAGAGGCGTTCTGAGTTTTGGAACTTTCAGCCTTTTTGCACTGGTGTCTCCTCATCTTTGTGGATTTATCTACCTTTGGTCTTTGATGTTGGTGACCTTCAGATGGGGTCTTTGAGTGGACGTGCTATTCCTTTGTGTTTGTTAATTTTCCATCTGACAGGCCCCTTTGCTGCTGGCCTGCTGGAGTTTGCTGGAGGTCCCCTCCCGACCCTGTTTGCCTGGATATCACCAGCGGAGGCTGCAGAACAGCAAAGATTGCTGCCTGATCTTTGCTCTGGAAGCTTCTTCCCAGAGGGGCACC... | TTGTGATCCTTTGGAGGAAAAGAGGCGTTCTGAGTTTTGGAACTTTCAGCCTTTTTGCACTGGTGTCTCCTCATCTTTGTGGATTTATCTACCTTTGGTCTTTGATGTTGGTGACCTTCAGATGGGGTCTTTGAGTGGACGTGCTATTCCTTTGTGTTTGTTAATTTTCCATCTGACAGGCCCCTTTGCTGCTGGCCTGCTGGAGTTTGCTGGAGGTCCCCTCCCGACCCTGTTTGCCTGGATATCACCAGCGGAGGCTGCAGAACAGCAAAGATTGCTGCCTGATCTTTGCTCTGGAAGCTTCTTCCCAGAGGGGCACC... | benign | 216,117 |
Is the genetic mutation found on chromosome 13 at position 72973577, within the gene PIBF1 (progesterone immunomodulatory binding factor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGTCAGTTTGTTTTTCAGCTGAGCTGCTTACCTTTATTGGCATTTAATTACTGTTTTACTCTGATGCCTATTTTTTTATCTAAATTAGTAACACTGTATAACATTTATATAGTTTTATGAGTTCAACACTTTATATAATCATTCACATAGTCCTTTGACATACATGAGTATTATGTTCTACTTTTACAGATATAAAAACTGAGGTTCAGTGGGGTGGTATGTGTTATGCTTTACAGCACACATTTGAGTCTGAGTCAGTGGCACAGTTGGGAACAGAAGTCAAAATTGCATCTAGTCCGTCTCCTCAGAGGACAAACTAT... | AGTCAGTTTGTTTTTCAGCTGAGCTGCTTACCTTTATTGGCATTTAATTACTGTTTTACTCTGATGCCTATTTTTTTATCTAAATTAGTAACACTGTATAACATTTATATAGTTTTATGAGTTCAACACTTTATATAATCATTCACATAGTCCTTTGACATACATGAGTATTATGTTCTACTTTTACAGATATAAAAACTGAGGTTCAGTGGGGTGGTATGTGTTATGCTTTACAGCACACATTTGAGTCTGAGTCAGTGGCACAGTTGGGAACAGAAGTCAAAATTGCATCTAGTCCGTCTCCTCAGAGGACAAACTAT... | benign | 216,123 |
Gene CLN5 variant at chromosome 13, position 76992208—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | CTCCCTGCACACAGAATGAAGAGACAGATGGCAGAAGCAAGACCAGAGGCCTCCACCACTGAACAAGGTCAACCTGAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAA... | CTCCCTGCACACAGAATGAAGAGACAGATGGCAGAAGCAAGACCAGAGGCCTCCACCACTGAACAAGGTCAACCTGAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAA... | pathogenic | 216,185 |
Does the genetic variant at chromosome 13, position 76992228, impacting gene CLN5, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_5'] | GAGACAGATGGCAGAAGCAAGACCAGAGGCCTCCACCACTGAACAAGGTCAACCTGAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAGATTGTGCT... | GAGACAGATGGCAGAAGCAAGACCAGAGGCCTCCACCACTGAACAAGGTCAACCTGAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAGATTGTGCT... | pathogenic | 216,188 |
Determine if the mutation at chromosome 13, position 76992238 in gene CLN5 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | GCAGAAGCAAGACCAGAGGCCTCCACCACTGAACAAGGTCAACCTGAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAGATTGTGCTTGCAGATGAC... | GCAGAAGCAAGACCAGAGGCCTCCACCACTGAACAAGGTCAACCTGAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAGATTGTGCTTGCAGATGAC... | pathogenic | 216,189 |
Is the genetic mutation found on chromosome 13 at position 76992249, within the gene CLN5, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | ACCAGAGGCCTCCACCACTGAACAAGGTCAACCTGAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAGATTGTGCTTGCAGATGACTGGATTAAACT... | ACCAGAGGCCTCCACCACTGAACAAGGTCAACCTGAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAGATTGTGCTTGCAGATGACTGGATTAAACT... | pathogenic | 216,190 |
The chromosome 13, position 76992283 genetic variant in gene CLN5: benign or pathogenic? If pathogenic, indicate disease(s). | benign | GAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAGATTGTGCTTGCAGATGACTGGATTAAACTGCAAATATCTCATGAAGCTGCTGCCTGCATCACC... | GAATTTGTTTTTGTAGCTCTGGGAAGTCCTGAACTGAATGGGAGGTTCTACTGTGGCCCTCTACTAACAGTAGATGGAACCTGGAACCATCTACTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCTATCTCCCTTCTTTGTATTTGGTGAAAAGATTTGAACTCGAGCCATCTCTGCTAAAGGCATGACTTTAGTCACCCCACTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAGATTGTGCTTGCAGATGACTGGATTAAACTGCAAATATCTCATGAAGCTGCTGCCTGCATCACC... | benign | 216,195 |
Considering the variant on chromosome 13, location 76995074, involving gene CLN5 (CLN5 intracellular trafficking protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TTTCTTTAAACCAAAAGCATCATTGGACATAATTTTAACTTACTAGCATAAGTAATCAACAGCTAAAACTGCACACAACAAACCTGAAAAAAACAGCTATTTTGTATGACAGTATGAGTGGGAAGGAGTTCTGCCTGCTGCGGGTCAAATCTGGCTCTGTCATCACCAGGGATCTTGGGAAAGTTACTCAGAATCTCTGTGCCCACATGCCCTGAGTCAAAAAATAGGAATAGTGGTAGCACGTACCTCATAGGTTTGCTGGAAGGATTAAATCTAGTAAAATGCCAGCTGTTGTCAAACCTAGATAGTGTATTCTGCTC... | TTTCTTTAAACCAAAAGCATCATTGGACATAATTTTAACTTACTAGCATAAGTAATCAACAGCTAAAACTGCACACAACAAACCTGAAAAAAACAGCTATTTTGTATGACAGTATGAGTGGGAAGGAGTTCTGCCTGCTGCGGGTCAAATCTGGCTCTGTCATCACCAGGGATCTTGGGAAAGTTACTCAGAATCTCTGTGCCCACATGCCCTGAGTCAAAAAATAGGAATAGTGGTAGCACGTACCTCATAGGTTTGCTGGAAGGATTAAATCTAGTAAAATGCCAGCTGTTGTCAAACCTAGATAGTGTATTCTGCTC... | pathogenic | 216,203 |
Does the variant impacting CLN5 (CLN5 intracellular trafficking protein) on chromosome 13, position 76995094, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | CATTGGACATAATTTTAACTTACTAGCATAAGTAATCAACAGCTAAAACTGCACACAACAAACCTGAAAAAAACAGCTATTTTGTATGACAGTATGAGTGGGAAGGAGTTCTGCCTGCTGCGGGTCAAATCTGGCTCTGTCATCACCAGGGATCTTGGGAAAGTTACTCAGAATCTCTGTGCCCACATGCCCTGAGTCAAAAAATAGGAATAGTGGTAGCACGTACCTCATAGGTTTGCTGGAAGGATTAAATCTAGTAAAATGCCAGCTGTTGTCAAACCTAGATAGTGTATTCTGCTCACTGAAATGTTTACAACACT... | CATTGGACATAATTTTAACTTACTAGCATAAGTAATCAACAGCTAAAACTGCACACAACAAACCTGAAAAAAACAGCTATTTTGTATGACAGTATGAGTGGGAAGGAGTTCTGCCTGCTGCGGGTCAAATCTGGCTCTGTCATCACCAGGGATCTTGGGAAAGTTACTCAGAATCTCTGTGCCCACATGCCCTGAGTCAAAAAATAGGAATAGTGGTAGCACGTACCTCATAGGTTTGCTGGAAGGATTAAATCTAGTAAAATGCCAGCTGTTGTCAAACCTAGATAGTGTATTCTGCTCACTGAAATGTTTACAACACT... | pathogenic | 216,205 |
Located at chromosome 13 position 76995900, the variant affecting gene CLN5 (CLN5 intracellular trafficking protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | ACAACCTTGGGGATCTAGGATTCTTAGATAGAAGCTGTTGTCGCCACCACTTCTTTCTTTCCCAGTGCCAGATTATAGGTGACCAGTGTGTCTGTTGAGCTGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATT... | ACAACCTTGGGGATCTAGGATTCTTAGATAGAAGCTGTTGTCGCCACCACTTCTTTCTTTCCCAGTGCCAGATTATAGGTGACCAGTGTGTCTGTTGAGCTGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATT... | pathogenic | 216,212 |
Does the variant on chromosome 13 at location 76995991 affecting gene CLN5 (CLN5 intracellular trafficking protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | CTGTTGAGCTGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGA... | CTGTTGAGCTGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGA... | pathogenic | 216,218 |
Does the variant impacting CLN5 (CLN5 intracellular trafficking protein) on chromosome 13, position 76995997, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | AGCTGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCA... | AGCTGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCA... | pathogenic | 216,220 |
The genetic variant at chromosome 13, position 76996000, affecting gene CLN5 (CLN5 intracellular trafficking protein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCAGTC... | TGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCAGTC... | pathogenic | 216,221 |
The mutation in gene CLN5 (CLN5 intracellular trafficking protein) at chromosome 13, position 76996071—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_5'] | GTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCAGTCTTCCGTACCTACCGGAGACCAAATGTGCCAGGCTTGTCTTACAATACTTAACATTTCCTCTGCCTTTCTGT... | GTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCAGTCTTCCGTACCTACCGGAGACCAAATGTGCCAGGCTTGTCTTACAATACTTAACATTTCCTCTGCCTTTCTGT... | pathogenic | 216,223 |
Considering the variant on chromosome 13, location 76996083, involving gene CLN5 (CLN5 intracellular trafficking protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCAGTCTTCCGTACCTACCGGAGACCAAATGTGCCAGGCTTGTCTTACAATACTTAACATTTCCTCTGCCTTTCTGTCTTAACCTTCTA... | TTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCAGTCTTCCGTACCTACCGGAGACCAAATGTGCCAGGCTTGTCTTACAATACTTAACATTTCCTCTGCCTTTCTGTCTTAACCTTCTA... | pathogenic | 216,224 |
Is the chromosome 13, position 76996085 variant in CLN5 (CLN5 intracellular trafficking protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | CTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCAGTCTTCCGTACCTACCGGAGACCAAATGTGCCAGGCTTGTCTTACAATACTTAACATTTCCTCTGCCTTTCTGTCTTAACCTTCTAAT... | CTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAATCCAGTCTTCCGTACCTACCGGAGACCAAATGTGCCAGGCTTGTCTTACAATACTTAACATTTCCTCTGCCTTTCTGTCTTAACCTTCTAAT... | pathogenic | 216,225 |
Evaluate if the mutation on chromosome 13 at position 77000443 in CLN5 (CLN5 intracellular trafficking protein) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGACAATATACCATAGCATTTGAGAAGTAAGGAGCTTGTCCATATGATTTATGAAGCATTACATTATAAATTGCTGTTCCCCAGAACAGTAGAAACATCTGAAATGAAAGCACTGTTGTGACAATAATTATTCAGTGAACCCCAGGACTTGAGGAAGTAATCATGCTTCCTATTTGTATAGCTCTTTACAAATGATTTGGAGGTATGTTAACTCACGGTTCAGTGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTA... | AGACAATATACCATAGCATTTGAGAAGTAAGGAGCTTGTCCATATGATTTATGAAGCATTACATTATAAATTGCTGTTCCCCAGAACAGTAGAAACATCTGAAATGAAAGCACTGTTGTGACAATAATTATTCAGTGAACCCCAGGACTTGAGGAAGTAATCATGCTTCCTATTTGTATAGCTCTTTACAAATGATTTGGAGGTATGTTAACTCACGGTTCAGTGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTA... | benign | 216,232 |
Chromosome 13, position 77000593, gene CLN5 (CLN5 intracellular trafficking protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | GAGGAAGTAATCATGCTTCCTATTTGTATAGCTCTTTACAAATGATTTGGAGGTATGTTAACTCACGGTTCAGTGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCT... | GAGGAAGTAATCATGCTTCCTATTTGTATAGCTCTTTACAAATGATTTGGAGGTATGTTAACTCACGGTTCAGTGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCT... | pathogenic | 216,240 |
Gene mutation in CLN5 (CLN5 intracellular trafficking protein) at chromosome 13, position 77000604—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | CATGCTTCCTATTTGTATAGCTCTTTACAAATGATTTGGAGGTATGTTAACTCACGGTTCAGTGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTC... | CATGCTTCCTATTTGTATAGCTCTTTACAAATGATTTGGAGGTATGTTAACTCACGGTTCAGTGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTC... | pathogenic | 216,242 |
Considering the variant on chromosome 13, location 77000662, involving gene CLN5 (CLN5 intracellular trafficking protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TCAGTGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCT... | TCAGTGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCT... | pathogenic | 216,243 |
Is the genetic mutation found on chromosome 13 at position 77000666, within the gene CLN5 (CLN5 intracellular trafficking protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTG... | TGGAGAGGATAAGATACTCATTCTCTGCAAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTG... | pathogenic | 216,244 |
Considering the variant on chromosome 13, location 77000694, involving gene CLN5 (CLN5 intracellular trafficking protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | AAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAG... | AAATAAGGAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAG... | pathogenic | 216,246 |
The mutation impacting CLN5 (CLN5 intracellular trafficking protein) on chromosome 13 at position 77000701: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | GAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCAC... | GAATTGAGGCTCAGCCAGGTAACATGACTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCAC... | pathogenic | 216,247 |
Variant in CLN5 (CLN5 intracellular trafficking protein), chromosome 13, position 77000728—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | CTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATAT... | CTTACTTGCCTCTCAAGGTCAAAGAGCTGGATGTAGCAGAATCAGGAATAAAACTGAGGTCTTTTAAATGTAACAAGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATAT... | pathogenic | 216,248 |
The genetic variant at chromosome 13, position 77000803, affecting gene CLN5 (CLN5 intracellular trafficking protein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | AGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAG... | AGGATCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAG... | pathogenic | 216,251 |
Clinically, how would you classify the variant at chromosome 13, position 77000807, gene CLN5 (CLN5 intracellular trafficking protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATT... | TCTGTTAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATT... | pathogenic | 216,252 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 77000812, gene CLN5 (CLN5 intracellular trafficking protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGT... | TAGCCGAATGCACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGT... | pathogenic | 216,253 |
Is chromosome 13, position 77000823, gene CLN5 (CLN5 intracellular trafficking protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | ACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGAT... | ACCATGTTGTTTTCTAATATTTCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGAT... | pathogenic | 216,254 |
Variant chromosome 13, position 77000844, gene CLN5 (CLN5 intracellular trafficking protein): benign or pathogenic? Disease(s)? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGATAGTGGTGGCATTTGAAAGTTG... | TCCTGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGATAGTGGTGGCATTTGAAAGTTG... | pathogenic | 216,255 |
Determine whether the variant at chromosome 13, position 77000847, in gene CLN5 (CLN5 intracellular trafficking protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGATAGTGGTGGCATTTGAAAGTTGAAG... | TGCTACTTTCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGATAGTGGTGGCATTTGAAAGTTGAAG... | benign | 216,256 |
Does the chromosome 13 mutation at position 77000855 within gene CLN5 (CLN5 intracellular trafficking protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGATAGTGGTGGCATTTGAAAGTTGAAGAATGCTAA... | TCTAATCAATGTGCCTTAAACCATACCAACAATACAAAAGTCCATCATTAGCGGTTCTTTCTTTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGATAGTGGTGGCATTTGAAAGTTGAAGAATGCTAA... | pathogenic | 216,259 |
Gene CLN5 (CLN5 intracellular trafficking protein) variant at chromosome position 77000917 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_5'] | TTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGATAGTGGTGGCATTTGAAAGTTGAAGAATGCTAAGAACAGTATCCCCAGTTCTAATACAACAGGCTTTATTCTGTTCTACAATTTTAATTCCATAA... | TTCATTCCAGGCCAGTTCACACCTTTCCCCATTTCCACCTACATCGTTATCTGAAAATCCTTCCTTCTGACATAAAGTCAATGATCATATGAATAAGTGATCACTATTTTTTGTAAAATAGTTCAAAATATGCCAGTACTTAAATCTTTTAAGTCATTTATTTGCCTTGTGAATAATCCTGTGATTGACAAAATAGTGTTTTGAAGCATTCTTGTCTCATAAGGATAGTGGTGGCATTTGAAAGTTGAAGAATGCTAAGAACAGTATCCCCAGTTCTAATACAACAGGCTTTATTCTGTTCTACAATTTTAATTCCATAA... | pathogenic | 216,263 |
Located at chromosome 13 position 77901130, the variant affecting gene EDNRB—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hearing_impairment'] | ACTGTTTTATGTCTTATAAAATGAGGGTGTTGATCCTGATGGAAGTTCTCTTCCAACTCTAAAATTTGAGTTATGAGTGGGCGAAGAATGTTATAGGCTGCCTTAGTGTTTACGCGGGAGCTACGTTCTTAGCTTTCCAGTAGTGAAATACCATGGACAAATGGATGATTTTCACATTAGGGGAGGGGATATTTTATTTCATGTTAGATTGTTGAAGGAGTGAATGAATAGAAGGATGATAAAATGCAAGCAGCTGAAGAAGGAATTATATGTATTTCACATTGAACAGCACATCACTGTTATACAAAAAAGGAAGAAAG... | ACTGTTTTATGTCTTATAAAATGAGGGTGTTGATCCTGATGGAAGTTCTCTTCCAACTCTAAAATTTGAGTTATGAGTGGGCGAAGAATGTTATAGGCTGCCTTAGTGTTTACGCGGGAGCTACGTTCTTAGCTTTCCAGTAGTGAAATACCATGGACAAATGGATGATTTTCACATTAGGGGAGGGGATATTTTATTTCATGTTAGATTGTTGAAGGAGTGAATGAATAGAAGGATGATAAAATGCAAGCAGCTGAAGAAGGAATTATATGTATTTCACATTGAACAGCACATCACTGTTATACAAAAAAGGAAGAAAG... | pathogenic | 216,292 |
Gene ZIC5 (Zic family member 5) variant at chromosome position 99970413 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACCGTCCGCGAGACGCAGAGCCAAAAACCCAAATGACCGCGGGTCCCCTCGCCGCCTGGGGTCCCCCGCGCCCCCCCCGACCCCACGCACGCGCGCGTGCCCCGGGAAGCCACCGGGGACAGTGCGCAGGGCGTGGCCTGTCCCGCCGGGGGCCCGGATCGGCTTCTGCGCCCGCAGCTCCCGGCAGCCGCCTAGGGAAGGCCGCTCCCCTCGCGAGGCCTGGGCAGGCGGGAAGGGCCCTAGGCCGCGCGCGGCCCCGCGCTTGGGAGTTCCCTTTCGGGGCCGGGCTGGGGAGCGGCTTCACGGTCCCTGGATCCTGC... | ACCGTCCGCGAGACGCAGAGCCAAAAACCCAAATGACCGCGGGTCCCCTCGCCGCCTGGGGTCCCCCGCGCCCCCCCCGACCCCACGCACGCGCGCGTGCCCCGGGAAGCCACCGGGGACAGTGCGCAGGGCGTGGCCTGTCCCGCCGGGGGCCCGGATCGGCTTCTGCGCCCGCAGCTCCCGGCAGCCGCCTAGGGAAGGCCGCTCCCCTCGCGAGGCCTGGGCAGGCGGGAAGGGCCCTAGGCCGCGCGCGGCCCCGCGCTTGGGAGTTCCCTTTCGGGGCCGGGCTGGGGAGCGGCTTCACGGTCCCTGGATCCTGC... | benign | 216,424 |
Gene ZIC5 (Zic family member 5) variant at chromosome 13, position 99970413—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | ACCGTCCGCGAGACGCAGAGCCAAAAACCCAAATGACCGCGGGTCCCCTCGCCGCCTGGGGTCCCCCGCGCCCCCCCCGACCCCACGCACGCGCGCGTGCCCCGGGAAGCCACCGGGGACAGTGCGCAGGGCGTGGCCTGTCCCGCCGGGGGCCCGGATCGGCTTCTGCGCCCGCAGCTCCCGGCAGCCGCCTAGGGAAGGCCGCTCCCCTCGCGAGGCCTGGGCAGGCGGGAAGGGCCCTAGGCCGCGCGCGGCCCCGCGCTTGGGAGTTCCCTTTCGGGGCCGGGCTGGGGAGCGGCTTCACGGTCCCTGGATCCTGC... | ACCGTCCGCGAGACGCAGAGCCAAAAACCCAAATGACCGCGGGTCCCCTCGCCGCCTGGGGTCCCCCGCGCCCCCCCCGACCCCACGCACGCGCGCGTGCCCCGGGAAGCCACCGGGGACAGTGCGCAGGGCGTGGCCTGTCCCGCCGGGGGCCCGGATCGGCTTCTGCGCCCGCAGCTCCCGGCAGCCGCCTAGGGAAGGCCGCTCCCCTCGCGAGGCCTGGGCAGGCGGGAAGGGCCCTAGGCCGCGCGCGGCCCCGCGCTTGGGAGTTCCCTTTCGGGGCCGGGCTGGGGAGCGGCTTCACGGTCCCTGGATCCTGC... | benign | 216,425 |
Variant chromosome 13, position 99982753, gene ZIC2 (Zic family member 2): benign or pathogenic? Disease(s)? | benign | CGGGAGCCGCCGTTAAAGGGGCGGTTTGACCGGGGGGGCCCGGCCTCGAGCTGGAGGGAGGGAGGGAGGCCGGGGCGGGAGACTAGGGGGTGCGGGGGGAGGGGAGAGGAAAAGGAGGAGACAAAAAATAAAAAATAAAAGGCTGCCGCTGCAGCGTTGGCGGCGCCCATCGAAATCAACGGAGGCGGTGGCGAACGCAGCCCACCGCAGCCGAGACCTGGGAGCCCGCCTGGGCCTCACACTCCCTCGGGTCGCGGACTGCGCTGGGTCCACGCGGCGCGGTCACTAGTTCCGGGCCCAGCGCCCAGGCCCGACCGGCG... | CGGGAGCCGCCGTTAAAGGGGCGGTTTGACCGGGGGGGCCCGGCCTCGAGCTGGAGGGAGGGAGGGAGGCCGGGGCGGGAGACTAGGGGGTGCGGGGGGAGGGGAGAGGAAAAGGAGGAGACAAAAAATAAAAAATAAAAGGCTGCCGCTGCAGCGTTGGCGGCGCCCATCGAAATCAACGGAGGCGGTGGCGAACGCAGCCCACCGCAGCCGAGACCTGGGAGCCCGCCTGGGCCTCACACTCCCTCGGGTCGCGGACTGCGCTGGGTCCACGCGGCGCGGTCACTAGTTCCGGGCCCAGCGCCCAGGCCCGACCGGCG... | benign | 216,437 |
Classify the chromosome 13 variant at position 99984961 affecting gene ZIC2 (Zic family member 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Holoprosencephaly_5'] | GGTGACACACGTCTCGGTGGAGCACGTCGGCGGCCCGGAGCAGAGCAACCACGTCTGCTTCTGGGAGGAGTGTCCGCGCGAGGGCAAGCCCTTCAAGGCCAAATACAAACTGGTCAACCACATCCGCGTGCACACAGGCGAGAAACCCTTCCCCTGCCCCTTCCCGGGCTGTGGCAAAGTCTTCGCGCGCTCCGAGAACCTCAAGATCCACAAAAGGACCCACACAGGTAACCGCGGGCTGGGACAGGGACCAGGCGCGGAGGGGAGACACGCACAGGCTGAGACTCAGGCTGTGGGTGCCGACGCTGGGCGCAGACCGC... | GGTGACACACGTCTCGGTGGAGCACGTCGGCGGCCCGGAGCAGAGCAACCACGTCTGCTTCTGGGAGGAGTGTCCGCGCGAGGGCAAGCCCTTCAAGGCCAAATACAAACTGGTCAACCACATCCGCGTGCACACAGGCGAGAAACCCTTCCCCTGCCCCTTCCCGGGCTGTGGCAAAGTCTTCGCGCGCTCCGAGAACCTCAAGATCCACAAAAGGACCCACACAGGTAACCGCGGGCTGGGACAGGGACCAGGCGCGGAGGGGAGACACGCACAGGCTGAGACTCAGGCTGTGGGTGCCGACGCTGGGCGCAGACCGC... | pathogenic | 216,441 |
Is the genetic mutation found on chromosome 13 at position 99985083, within the gene ZIC2 (Zic family member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Holoprosencephaly_5'] | TCCGCGTGCACACAGGCGAGAAACCCTTCCCCTGCCCCTTCCCGGGCTGTGGCAAAGTCTTCGCGCGCTCCGAGAACCTCAAGATCCACAAAAGGACCCACACAGGTAACCGCGGGCTGGGACAGGGACCAGGCGCGGAGGGGAGACACGCACAGGCTGAGACTCAGGCTGTGGGTGCCGACGCTGGGCGCAGACCGCCAGCCGGGGACCTGGGATGGGAGGTGTTTTTGCGTGTACGAAAGAGCCAGCAGCTTGTTTCTGTTGGACGATGACAATATTATTGGGCTAGGTTTTTCCATGTGCGGAAATCGAGTTTTGAA... | TCCGCGTGCACACAGGCGAGAAACCCTTCCCCTGCCCCTTCCCGGGCTGTGGCAAAGTCTTCGCGCGCTCCGAGAACCTCAAGATCCACAAAAGGACCCACACAGGTAACCGCGGGCTGGGACAGGGACCAGGCGCGGAGGGGAGACACGCACAGGCTGAGACTCAGGCTGTGGGTGCCGACGCTGGGCGCAGACCGCCAGCCGGGGACCTGGGATGGGAGGTGTTTTTGCGTGTACGAAAGAGCCAGCAGCTTGTTTCTGTTGGACGATGACAATATTATTGGGCTAGGTTTTTCCATGTGCGGAAATCGAGTTTTGAA... | pathogenic | 216,442 |
Mutation found at chromosome 13 position 99985396, gene ZIC2 (Zic family member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Holoprosencephaly_5'] | TTTTGAATGATTAGCCTCACATCAAATGTATGCTTGGGTCATGCAATTGCTTCGTTTGCTCAGCCCCGGTTAATAATTTCCGTTTTAAGTAGAAAGCACAAAATAAAACTGCTCGCTAATTCGGTGCCCGGGAAGCGAGCCTAGAGAGGATTTTGCCAGCTTGTCTGAATGTGCTTTTCTGCTCGGAGTGTATGTCTGTCTGAGTGGTTTGTGTGTTTTCCCACTTCTTTTACTCGGGGTCCAAACGCCCTTCCCGGGACTGTTTCCCATGAAATGAGTCTGGTGTGAGCCGAAGCTGTAATGCGTTTCTCATTTTTAAA... | TTTTGAATGATTAGCCTCACATCAAATGTATGCTTGGGTCATGCAATTGCTTCGTTTGCTCAGCCCCGGTTAATAATTTCCGTTTTAAGTAGAAAGCACAAAATAAAACTGCTCGCTAATTCGGTGCCCGGGAAGCGAGCCTAGAGAGGATTTTGCCAGCTTGTCTGAATGTGCTTTTCTGCTCGGAGTGTATGTCTGTCTGAGTGGTTTGTGTGTTTTCCCACTTCTTTTACTCGGGGTCCAAACGCCCTTCCCGGGACTGTTTCCCATGAAATGAGTCTGGTGTGAGCCGAAGCTGTAATGCGTTTCTCATTTTTAAA... | pathogenic | 216,446 |
Evaluate this variant at chromosome 13, position 99985448, gene ZIC2: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Holoprosencephaly_5'] | CGTTTGCTCAGCCCCGGTTAATAATTTCCGTTTTAAGTAGAAAGCACAAAATAAAACTGCTCGCTAATTCGGTGCCCGGGAAGCGAGCCTAGAGAGGATTTTGCCAGCTTGTCTGAATGTGCTTTTCTGCTCGGAGTGTATGTCTGTCTGAGTGGTTTGTGTGTTTTCCCACTTCTTTTACTCGGGGTCCAAACGCCCTTCCCGGGACTGTTTCCCATGAAATGAGTCTGGTGTGAGCCGAAGCTGTAATGCGTTTCTCATTTTTAAAGTGTTTTTAAAGCCCGTCTCGGGGTGGGTCGCGGGGGCTTTACTGTGGTTTC... | CGTTTGCTCAGCCCCGGTTAATAATTTCCGTTTTAAGTAGAAAGCACAAAATAAAACTGCTCGCTAATTCGGTGCCCGGGAAGCGAGCCTAGAGAGGATTTTGCCAGCTTGTCTGAATGTGCTTTTCTGCTCGGAGTGTATGTCTGTCTGAGTGGTTTGTGTGTTTTCCCACTTCTTTTACTCGGGGTCCAAACGCCCTTCCCGGGACTGTTTCCCATGAAATGAGTCTGGTGTGAGCCGAAGCTGTAATGCGTTTCTCATTTTTAAAGTGTTTTTAAAGCCCGTCTCGGGGTGGGTCGCGGGGGCTTTACTGTGGTTTC... | pathogenic | 216,448 |
Is chromosome 13, position 100089133, gene PCCA (propionyl-CoA carboxylase subunit alpha) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Propionic_acidemia'] | TTGTCTATGTCACTTGTGCTTATGTCCCATTGGCCAAAACTTAGTAACCAAATCTTGGTAAGCACCCTTGCTGCAGTGGGAGTTGGGAAATGTAGATCTTTGTTTAGGTAAGAAAGAAGAGGGCATGGAGGGCACAGTCCTTACATTCCAGACCTTAGTCATGGCGCTACACCTCGTTGTAAGGGAGGCTAGCTATTGCAGCCTTTCGCTGGGTGGCCATGTACCCAGCTAGATCTCAGGGGCACTCTTACTAAAGTAATGCATGGAGAATGGATAGCATGAGAAGCAGTTTCTGCTACAAGTGCCTTTCATAAAAAGAA... | TTGTCTATGTCACTTGTGCTTATGTCCCATTGGCCAAAACTTAGTAACCAAATCTTGGTAAGCACCCTTGCTGCAGTGGGAGTTGGGAAATGTAGATCTTTGTTTAGGTAAGAAAGAAGAGGGCATGGAGGGCACAGTCCTTACATTCCAGACCTTAGTCATGGCGCTACACCTCGTTGTAAGGGAGGCTAGCTATTGCAGCCTTTCGCTGGGTGGCCATGTACCCAGCTAGATCTCAGGGGCACTCTTACTAAAGTAATGCATGGAGAATGGATAGCATGAGAAGCAGTTTCTGCTACAAGTGCCTTTCATAAAAAGAA... | pathogenic | 216,456 |
Gene PCCA (propionyl-CoA carboxylase subunit alpha) variant at chromosome position 100089158 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Propionic_acidemia'] | CCCATTGGCCAAAACTTAGTAACCAAATCTTGGTAAGCACCCTTGCTGCAGTGGGAGTTGGGAAATGTAGATCTTTGTTTAGGTAAGAAAGAAGAGGGCATGGAGGGCACAGTCCTTACATTCCAGACCTTAGTCATGGCGCTACACCTCGTTGTAAGGGAGGCTAGCTATTGCAGCCTTTCGCTGGGTGGCCATGTACCCAGCTAGATCTCAGGGGCACTCTTACTAAAGTAATGCATGGAGAATGGATAGCATGAGAAGCAGTTTCTGCTACAAGTGCCTTTCATAAAAAGAACTCCTATAAGAAAAACAAACAGGGC... | CCCATTGGCCAAAACTTAGTAACCAAATCTTGGTAAGCACCCTTGCTGCAGTGGGAGTTGGGAAATGTAGATCTTTGTTTAGGTAAGAAAGAAGAGGGCATGGAGGGCACAGTCCTTACATTCCAGACCTTAGTCATGGCGCTACACCTCGTTGTAAGGGAGGCTAGCTATTGCAGCCTTTCGCTGGGTGGCCATGTACCCAGCTAGATCTCAGGGGCACTCTTACTAAAGTAATGCATGGAGAATGGATAGCATGAGAAGCAGTTTCTGCTACAAGTGCCTTTCATAAAAAGAACTCCTATAAGAAAAACAAACAGGGC... | pathogenic | 216,458 |
Mutation at chromosome 13, position 100089188, within PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Propionic_acidemia'] | TGGTAAGCACCCTTGCTGCAGTGGGAGTTGGGAAATGTAGATCTTTGTTTAGGTAAGAAAGAAGAGGGCATGGAGGGCACAGTCCTTACATTCCAGACCTTAGTCATGGCGCTACACCTCGTTGTAAGGGAGGCTAGCTATTGCAGCCTTTCGCTGGGTGGCCATGTACCCAGCTAGATCTCAGGGGCACTCTTACTAAAGTAATGCATGGAGAATGGATAGCATGAGAAGCAGTTTCTGCTACAAGTGCCTTTCATAAAAAGAACTCCTATAAGAAAAACAAACAGGGCCTAAGGAAAACTAATCCAAAGGGTAAAACA... | TGGTAAGCACCCTTGCTGCAGTGGGAGTTGGGAAATGTAGATCTTTGTTTAGGTAAGAAAGAAGAGGGCATGGAGGGCACAGTCCTTACATTCCAGACCTTAGTCATGGCGCTACACCTCGTTGTAAGGGAGGCTAGCTATTGCAGCCTTTCGCTGGGTGGCCATGTACCCAGCTAGATCTCAGGGGCACTCTTACTAAAGTAATGCATGGAGAATGGATAGCATGAGAAGCAGTTTCTGCTACAAGTGCCTTTCATAAAAAGAACTCCTATAAGAAAAACAAACAGGGCCTAAGGAAAACTAATCCAAAGGGTAAAACA... | pathogenic | 216,459 |
Variant at chromosome position 100102955, chromosome 13, gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Propionic_acidemia'] | GATTCTCCTGCCTCAGCCATCCGAGTAGCTGGGATTACGGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCGAGTTCTACTTCTAGTTACTGGGTAACCGGGAGGCATCTATGCTTTTTACAGCTTTAGGCCACATTATTACAAGTTCACATGTGTGCAAGCTCTGTGGAACAATATCATATCTTTGAGTAGAT... | GATTCTCCTGCCTCAGCCATCCGAGTAGCTGGGATTACGGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCGAGTTCTACTTCTAGTTACTGGGTAACCGGGAGGCATCTATGCTTTTTACAGCTTTAGGCCACATTATTACAAGTTCACATGTGTGCAAGCTCTGTGGAACAATATCATATCTTTGAGTAGAT... | pathogenic | 216,465 |
Considering the genetic mutation at chromosome 13, position 100111820, impacting PCCA (propionyl-CoA carboxylase subunit alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGGTTAAACCAAGACCTAGCAAGCTTTTTTCACTTCTGAGATTCTGGACTTTTTCCTGTATGTTAAAATACTGCTCTAGGCCGGGTGTGGTGGCTCAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAAGTCAGGAGTTCGAGGCCGGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAGAAATTAGCCGGGCTTGGTGGTGCGCACCTGTAATCCCAGCTATTAGGAGGCTGAGGCAGGAGAATATGTTGAACCTGGGAGACGGAGGTTACTGTGAGCTGAGATCGTAC... | AGGTTAAACCAAGACCTAGCAAGCTTTTTTCACTTCTGAGATTCTGGACTTTTTCCTGTATGTTAAAATACTGCTCTAGGCCGGGTGTGGTGGCTCAGGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAAGTCAGGAGTTCGAGGCCGGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAGAAATTAGCCGGGCTTGGTGGTGCGCACCTGTAATCCCAGCTATTAGGAGGCTGAGGCAGGAGAATATGTTGAACCTGGGAGACGGAGGTTACTGTGAGCTGAGATCGTAC... | benign | 216,468 |
The mutation in gene PCCA (propionyl-CoA carboxylase subunit alpha) at chromosome 13, position 100111929—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAAGTCAGGAGTTCGAGGCCGGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAGAAATTAGCCGGGCTTGGTGGTGCGCACCTGTAATCCCAGCTATTAGGAGGCTGAGGCAGGAGAATATGTTGAACCTGGGAGACGGAGGTTACTGTGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACTGCTCTAGGTTATATAAGAGTACTTTTTAAAAGGTCATTTATAAC... | CAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAAGTCAGGAGTTCGAGGCCGGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAGAAATTAGCCGGGCTTGGTGGTGCGCACCTGTAATCCCAGCTATTAGGAGGCTGAGGCAGGAGAATATGTTGAACCTGGGAGACGGAGGTTACTGTGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACTGCTCTAGGTTATATAAGAGTACTTTTTAAAAGGTCATTTATAAC... | benign | 216,474 |
Considering the variant on chromosome 13, location 100112044, involving gene PCCA (propionyl-CoA carboxylase subunit alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Propionic_acidemia'] | TGGTGGTGCGCACCTGTAATCCCAGCTATTAGGAGGCTGAGGCAGGAGAATATGTTGAACCTGGGAGACGGAGGTTACTGTGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACTGCTCTAGGTTATATAAGAGTACTTTTTAAAAGGTCATTTATAACTCTAACTCTTCTTTTAGAAATATAACTGACACTTTTTTTCTGTAGTTCCGTTGAACTTAAAAATAATTCACAAATACAGAAATTACCGTGTGCTAATGTGTATTACATCCAAATT... | TGGTGGTGCGCACCTGTAATCCCAGCTATTAGGAGGCTGAGGCAGGAGAATATGTTGAACCTGGGAGACGGAGGTTACTGTGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACTGCTCTAGGTTATATAAGAGTACTTTTTAAAAGGTCATTTATAACTCTAACTCTTCTTTTAGAAATATAACTGACACTTTTTTTCTGTAGTTCCGTTGAACTTAAAAATAATTCACAAATACAGAAATTACCGTGTGCTAATGTGTATTACATCCAAATT... | pathogenic | 216,477 |
Is the genetic mutation found on chromosome 13 at position 100157311, within the gene PCCA (propionyl-CoA carboxylase subunit alpha), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Propionic_acidemia'] | TGTAGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTCATAATTTACAAGGA... | TGTAGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTCATAATTTACAAGGA... | pathogenic | 216,490 |
Variant in PCCA (propionyl-CoA carboxylase subunit alpha), chromosome 13, position 100157314—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Propionic_acidemia'] | AGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTCATAATTTACAAGGATAA... | AGCATCTGGCAGTGTTGGTTGCTGATCCTGCAGGTGGCTGCTGGATTCAGCTTTCACACCAGGGAGCAGTTTCAGTTCATTTCCAAATTTGCTAGGAAAAAAGAAATCCCAATTAGTTTTGAGTATTAACCCTTTCCGTGTAATAAGAGCATTTTAAAAAATTCTGTGTTATAAACAGGATCCAAAGACTGTGTTCAAATTCCATTTTAATAATTTAAAAATTACTTATACCTAGTACACTTCCAGAAATAAAAACAGCACATTTGGTAATTATTTTAGTTTGTTAATGTCAGTAGAATGCTCATAATTTACAAGGATAA... | pathogenic | 216,491 |
Regarding the variant at chromosome 13 and position 100209358, affecting gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Propionic_acidemia'] | CATACCTCTTGAATTTAAAGACATTGGCTTTTCTACTCATTTTCTCTGAATGATTTCATTCACAACTTTTATTTTTGTATTTATTTTTTTGAGATGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGTAGTGGCTCCATCTCGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAGTTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCAGCTAATTTTTGGTAGTTTTAGTAGAGACGGGCTTTCACTGTGTTGGTCAGGATGGTCTCGATCTCCTGACCTCAAGATCTGCCCTCC... | CATACCTCTTGAATTTAAAGACATTGGCTTTTCTACTCATTTTCTCTGAATGATTTCATTCACAACTTTTATTTTTGTATTTATTTTTTTGAGATGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGTAGTGGCTCCATCTCGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAGTTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCAGCTAATTTTTGGTAGTTTTAGTAGAGACGGGCTTTCACTGTGTTGGTCAGGATGGTCTCGATCTCCTGACCTCAAGATCTGCCCTCC... | pathogenic | 216,499 |
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