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 |
|---|---|---|---|---|---|
Mutation found at chromosome 1 position 218346895, gene TGFB2 (transforming growth factor beta 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Loeys-Dietz_syndrome_4'] | TTCTGGGATGGCAACCTGCTAAGGTATCCCAGAAAATAAGAGGTAGGACATGAATTTAAAAGATTGGAAGGTATGTCTTCAGTACTGGCCTGGCCCTGAGTAGACTAGTGCTCCCTCCCATAGGGGTGCGTGTGCACACATAATACAGGAGGGAAGCCTTCCCTTCTAGAGCAAGTGATTCAGCTTGGGAGGCTGTGACTGAGCTACACTAAGTAAAAACGGGAGACTTGATTGTCCTTCCTTCAACAGACCTGTCCAAAATGACTGGAAAGTAAATACCGTAAATCACTGTTGTCAGGGCGCACATTCCACCTCCTTCC... | TTCTGGGATGGCAACCTGCTAAGGTATCCCAGAAAATAAGAGGTAGGACATGAATTTAAAAGATTGGAAGGTATGTCTTCAGTACTGGCCTGGCCCTGAGTAGACTAGTGCTCCCTCCCATAGGGGTGCGTGTGCACACATAATACAGGAGGGAAGCCTTCCCTTCTAGAGCAAGTGATTCAGCTTGGGAGGCTGTGACTGAGCTACACTAAGTAAAAACGGGAGACTTGATTGTCCTTCCTTCAACAGACCTGTCCAAAATGACTGGAAAGTAAATACCGTAAATCACTGTTGTCAGGGCGCACATTCCACCTCCTTCC... | pathogenic | 22,855 |
Determine whether the variant at chromosome 1, position 218405175, in gene TGFB2 (transforming growth factor beta 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic | AGTGGTGATGCGGCGGATCATCACCATGTCTGCATGAATACTTTTTTTCTTTGAAACCTGGATACTTTGGATTTTTTGGGGTTTTTTTGTTTGTTTGTTTGTTTCTGAGACTTCTGACTCCTGGGTTATAAAGCCTCAATTCACACAGTCATTTTCTGAACCAGTATGGAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCA... | AGTGGTGATGCGGCGGATCATCACCATGTCTGCATGAATACTTTTTTTCTTTGAAACCTGGATACTTTGGATTTTTTGGGGTTTTTTTGTTTGTTTGTTTGTTTCTGAGACTTCTGACTCCTGGGTTATAAAGCCTCAATTCACACAGTCATTTTCTGAACCAGTATGGAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCA... | pathogenic | 22,870 |
A genetic alteration at chromosome 1, position 218405269, in gene TGFB2 (transforming growth factor beta 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Loeys-Dietz_syndrome_4'] | TTGTTTGTTTCTGAGACTTCTGACTCCTGGGTTATAAAGCCTCAATTCACACAGTCATTTTCTGAACCAGTATGGAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCATCTTTTTTTCTTCAGTGTAATCGTCAGGGCATGGATTTCCCAATAAATCACGGAAGGTATTTATTTCTATTTTAAGATCGGCAAGATGGCTCAT... | TTGTTTGTTTCTGAGACTTCTGACTCCTGGGTTATAAAGCCTCAATTCACACAGTCATTTTCTGAACCAGTATGGAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCATCTTTTTTTCTTCAGTGTAATCGTCAGGGCATGGATTTCCCAATAAATCACGGAAGGTATTTATTTCTATTTTAAGATCGGCAAGATGGCTCAT... | pathogenic | 22,875 |
Variant on chromosome 1, at position 218405343, affecting TGFB2 (transforming growth factor beta 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCATCTTTTTTTCTTCAGTGTAATCGTCAGGGCATGGATTTCCCAATAAATCACGGAAGGTATTTATTTCTATTTTAAGATCGGCAAGATGGCTCATTTATTTAATAAGAAGTTAGTGTTGCCAACAGTCAGATGCCTGAGTCTTTCAAGAGACTCCTGTTGATGACCAAC... | GAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCATCTTTTTTTCTTCAGTGTAATCGTCAGGGCATGGATTTCCCAATAAATCACGGAAGGTATTTATTTCTATTTTAAGATCGGCAAGATGGCTCATTTATTTAATAAGAAGTTAGTGTTGCCAACAGTCAGATGCCTGAGTCTTTCAAGAGACTCCTGTTGATGACCAAC... | benign | 22,878 |
Chromosome 1, position 218405343, gene TGFB2 (transforming growth factor beta 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCATCTTTTTTTCTTCAGTGTAATCGTCAGGGCATGGATTTCCCAATAAATCACGGAAGGTATTTATTTCTATTTTAAGATCGGCAAGATGGCTCATTTATTTAATAAGAAGTTAGTGTTGCCAACAGTCAGATGCCTGAGTCTTTCAAGAGACTCCTGTTGATGACCAAC... | GAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCATCTTTTTTTCTTCAGTGTAATCGTCAGGGCATGGATTTCCCAATAAATCACGGAAGGTATTTATTTCTATTTTAAGATCGGCAAGATGGCTCATTTATTTAATAAGAAGTTAGTGTTGCCAACAGTCAGATGCCTGAGTCTTTCAAGAGACTCCTGTTGATGACCAAC... | benign | 22,879 |
Is the genetic mutation found on chromosome 1 at position 218405343, within the gene TGFB2 (transforming growth factor beta 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCATCTTTTTTTCTTCAGTGTAATCGTCAGGGCATGGATTTCCCAATAAATCACGGAAGGTATTTATTTCTATTTTAAGATCGGCAAGATGGCTCATTTATTTAATAAGAAGTTAGTGTTGCCAACAGTCAGATGCCTGAGTCTTTCAAGAGACTCCTGTTGATGACCAAC... | GAGGAGACTGGTGTAGAAATTCCCCGCTTCTCCGTGGGCCTGTGTGCTGAGAGTCACACATATATAGGGGAAGGAGATGGGTTGGGAGAAAGTTCCTATGAAGGAAAAAATTCAGGCTCTTAAGATGAGAAAATGTTGGTGTGTTCCTAGCATCTTTTTTTCTTCAGTGTAATCGTCAGGGCATGGATTTCCCAATAAATCACGGAAGGTATTTATTTCTATTTTAAGATCGGCAAGATGGCTCATTTATTTAATAAGAAGTTAGTGTTGCCAACAGTCAGATGCCTGAGTCTTTCAAGAGACTCCTGTTGATGACCAAC... | benign | 22,880 |
Variant at chromosome position 218434146, chromosome 1, gene TGFB2 (transforming growth factor beta 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Loeys-Dietz_syndrome_4'] | ACTGAAGTGGGAAAATGACTCGGGATTGAGTTGGATCATCTCTTCACACTTGTTCACTGGGAGGCATTGGGCAAGTTAGTTAACCTCCTTGAGTTTGCTTCCTTAATCTACCCTACAGGAACATTTTGAGGATTAAATAAAATAAAATAATGCATGCCAAGCCCAGAGCGTAGTGTACCCAGCCCTCAAGTCATGTTTATCTGCTTTCTTTAATTCGCAAAGAACATTTCTTACCTATCATAGAGCCATTGTTGCCTCCACATTCTCTTCTTTTAGTGGAGGTTTTGGACCACAGGGGCAGATCTGTAGAATAAGTCTTG... | ACTGAAGTGGGAAAATGACTCGGGATTGAGTTGGATCATCTCTTCACACTTGTTCACTGGGAGGCATTGGGCAAGTTAGTTAACCTCCTTGAGTTTGCTTCCTTAATCTACCCTACAGGAACATTTTGAGGATTAAATAAAATAAAATAATGCATGCCAAGCCCAGAGCGTAGTGTACCCAGCCCTCAAGTCATGTTTATCTGCTTTCTTTAATTCGCAAAGAACATTTCTTACCTATCATAGAGCCATTGTTGCCTCCACATTCTCTTCTTTTAGTGGAGGTTTTGGACCACAGGGGCAGATCTGTAGAATAAGTCTTG... | pathogenic | 22,884 |
Benign or pathogenic: chromosome 1, position 218434454, gene TGFB2 (transforming growth factor beta 2) variant? Disease(s) if pathogenic? | benign | GAATAAGTCTTGTGTAAAATTCATGAGGGCACCCAAGGGTCTAATTGTATGAATCTCCTTCCTTTTCTATATTTACTTAATCCAGAAAAAAGTCTACCATTATGGCAAGTATTTTAGGAAGCGTCTGTTGCCAAATTACCTGAAACAAATCATGTACACACATGGAAGGAAAGTACATTTTCAGATGAGTGGAAAGATGATGCATTTTTGTTTTACAAGGTTTAAAGGATAGTTAATAAATCTTCTAGATACTGAAATAAACATTTAATAGATATTGATTCAATTGAGTGCTATGGTTTGAAACGATATCAAATTGAAGA... | GAATAAGTCTTGTGTAAAATTCATGAGGGCACCCAAGGGTCTAATTGTATGAATCTCCTTCCTTTTCTATATTTACTTAATCCAGAAAAAAGTCTACCATTATGGCAAGTATTTTAGGAAGCGTCTGTTGCCAAATTACCTGAAACAAATCATGTACACACATGGAAGGAAAGTACATTTTCAGATGAGTGGAAAGATGATGCATTTTTGTTTTACAAGGTTTAAAGGATAGTTAATAAATCTTCTAGATACTGAAATAAACATTTAATAGATATTGATTCAATTGAGTGCTATGGTTTGAAACGATATCAAATTGAAGA... | benign | 22,894 |
Variant in gene TGFB2 (transforming growth factor beta 2), located at chromosome 1 position 218436028: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Loeys-Dietz_syndrome_4', 'likely other unspecified diseases'] | GCTAAATTTAGGTAATGAATTAGAACACTGTTAATAGTTTTGGTTTAGTCATGCTGTCAGAATGCCAACTCAGCCTTTTCTCTTGCTCTTTTTCCCCTCCAGATTCTCAAGTCCAAAGATTTAACATCTCCAACCCAGCGCTACATCGACAGCAAAGTTGTGAAAACAAGAGCAGAAGGCGAATGGCTCTCCTTCGATGTAACTGATGCTGTTCATGAATGGCTTCACCATAAAGGTTACAAGCCACTCTCTCTTTTCCTCCCAAGATGTTCAGTATCCCTAAGTTACTTTAAATTGATTGCAGATTTAAGGGTATAGAC... | GCTAAATTTAGGTAATGAATTAGAACACTGTTAATAGTTTTGGTTTAGTCATGCTGTCAGAATGCCAACTCAGCCTTTTCTCTTGCTCTTTTTCCCCTCCAGATTCTCAAGTCCAAAGATTTAACATCTCCAACCCAGCGCTACATCGACAGCAAAGTTGTGAAAACAAGAGCAGAAGGCGAATGGCTCTCCTTCGATGTAACTGATGCTGTTCATGAATGGCTTCACCATAAAGGTTACAAGCCACTCTCTCTTTTCCTCCCAAGATGTTCAGTATCCCTAAGTTACTTTAAATTGATTGCAGATTTAAGGGTATAGAC... | pathogenic | 22,897 |
Clinically, how would you classify the variant at chromosome 1, position 218436028, gene TGFB2 (transforming growth factor beta 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Loeys-Dietz_syndrome_4'] | GCTAAATTTAGGTAATGAATTAGAACACTGTTAATAGTTTTGGTTTAGTCATGCTGTCAGAATGCCAACTCAGCCTTTTCTCTTGCTCTTTTTCCCCTCCAGATTCTCAAGTCCAAAGATTTAACATCTCCAACCCAGCGCTACATCGACAGCAAAGTTGTGAAAACAAGAGCAGAAGGCGAATGGCTCTCCTTCGATGTAACTGATGCTGTTCATGAATGGCTTCACCATAAAGGTTACAAGCCACTCTCTCTTTTCCTCCCAAGATGTTCAGTATCCCTAAGTTACTTTAAATTGATTGCAGATTTAAGGGTATAGAC... | GCTAAATTTAGGTAATGAATTAGAACACTGTTAATAGTTTTGGTTTAGTCATGCTGTCAGAATGCCAACTCAGCCTTTTCTCTTGCTCTTTTTCCCCTCCAGATTCTCAAGTCCAAAGATTTAACATCTCCAACCCAGCGCTACATCGACAGCAAAGTTGTGAAAACAAGAGCAGAAGGCGAATGGCTCTCCTTCGATGTAACTGATGCTGTTCATGAATGGCTTCACCATAAAGGTTACAAGCCACTCTCTCTTTTCCTCCCAAGATGTTCAGTATCCCTAAGTTACTTTAAATTGATTGCAGATTTAAGGGTATAGAC... | pathogenic | 22,898 |
Considering the genetic mutation at chromosome 1, position 218437320, impacting TGFB2 (transforming growth factor beta 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GATTTATTTCAGTCTCTAACCTAGTCATGATTCTCTGGAGTGTGGAGATTAAATGCTTAAACTGGCAGTCTCTTGAGCATGCTTTGGGGAGCTCAAGTTTCTAAATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCA... | GATTTATTTCAGTCTCTAACCTAGTCATGATTCTCTGGAGTGTGGAGATTAAATGCTTAAACTGGCAGTCTCTTGAGCATGCTTTGGGGAGCTCAAGTTTCTAAATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCA... | benign | 22,904 |
Clinical classification of chromosome 1, position 218437320, gene TGFB2 (transforming growth factor beta 2): benign or pathogenic? Disease(s) if pathogenic? | benign | GATTTATTTCAGTCTCTAACCTAGTCATGATTCTCTGGAGTGTGGAGATTAAATGCTTAAACTGGCAGTCTCTTGAGCATGCTTTGGGGAGCTCAAGTTTCTAAATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCA... | GATTTATTTCAGTCTCTAACCTAGTCATGATTCTCTGGAGTGTGGAGATTAAATGCTTAAACTGGCAGTCTCTTGAGCATGCTTTGGGGAGCTCAAGTTTCTAAATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCA... | benign | 22,905 |
Variant in gene TGFB2 (transforming growth factor beta 2), located at chromosome 1 position 218437320: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GATTTATTTCAGTCTCTAACCTAGTCATGATTCTCTGGAGTGTGGAGATTAAATGCTTAAACTGGCAGTCTCTTGAGCATGCTTTGGGGAGCTCAAGTTTCTAAATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCA... | GATTTATTTCAGTCTCTAACCTAGTCATGATTCTCTGGAGTGTGGAGATTAAATGCTTAAACTGGCAGTCTCTTGAGCATGCTTTGGGGAGCTCAAGTTTCTAAATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCA... | benign | 22,906 |
A mutation at chromosome position 220100639 on chromosome 1 in gene IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Leigh_syndrome'] | AGAAAAATTCTTGACATACAGTAGGCATTCAGATATTTATCCCTCAAACAAAGCAATGCATGAATATTAGAAAAATGAAAGGAACAGAGATAAATGACTCTTAAAAGTATGGAGGAACTTTTTTTGGGGAGAAGGAGGGTGGTGTTTGATACTGAGGAGTTAGTAAAATATTCCTATGATATTGCTACTATTCTTTTCACTAGAGGCTTCATATATTATATTTTATTATTACATTTAAGAATCCTTATTAGGTACACTGTTAATTATTAGTTCCAGTGATTGATTTCATCCTGTTCATATGACTGAAAGCAACACTATTC... | AGAAAAATTCTTGACATACAGTAGGCATTCAGATATTTATCCCTCAAACAAAGCAATGCATGAATATTAGAAAAATGAAAGGAACAGAGATAAATGACTCTTAAAAGTATGGAGGAACTTTTTTTGGGGAGAAGGAGGGTGGTGTTTGATACTGAGGAGTTAGTAAAATATTCCTATGATATTGCTACTATTCTTTTCACTAGAGGCTTCATATATTATATTTTATTATTACATTTAAGAATCCTTATTAGGTACACTGTTAATTATTAGTTCCAGTGATTGATTTCATCCTGTTCATATGACTGAAAGCAACACTATTC... | pathogenic | 22,997 |
Regarding the variant at chromosome 1 and position 220102118, affecting gene IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATTTTTTAAAAGGCTCTGCTGCCCTCTGGTATCTAAAATGAATTTAAAAAGGTAAATTGGTTCTAGAACTATACCTAATGAAGAGGTCTACTGTTTTAGTAAGGGTTTGTCAATGACAGAGTTAACCACAATATTCCATTCTCTGAGTACACTGTAAGTTCTGCAATGGTTTGATGATATTTCTTAGCTCAATATAAATAATATTAGACTATTTGTGTCAATAGTTTTTTTATGAGTTAATTTATACGTTTCCTTTCAAATTGCAGTTTTAAAAATGGTATTAAGTTTAAAAAAAAGAACATAAATTGTAGGCCAAATAT... | ATTTTTTAAAAGGCTCTGCTGCCCTCTGGTATCTAAAATGAATTTAAAAAGGTAAATTGGTTCTAGAACTATACCTAATGAAGAGGTCTACTGTTTTAGTAAGGGTTTGTCAATGACAGAGTTAACCACAATATTCCATTCTCTGAGTACACTGTAAGTTCTGCAATGGTTTGATGATATTTCTTAGCTCAATATAAATAATATTAGACTATTTGTGTCAATAGTTTTTTTATGAGTTAATTTATACGTTTCCTTTCAAATTGCAGTTTTAAAAATGGTATTAAGTTTAAAAAAAAGAACATAAATTGTAGGCCAAATAT... | benign | 22,999 |
Regarding the variant found on chromosome 1 at position 220102288 in gene IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGATGATATTTCTTAGCTCAATATAAATAATATTAGACTATTTGTGTCAATAGTTTTTTTATGAGTTAATTTATACGTTTCCTTTCAAATTGCAGTTTTAAAAATGGTATTAAGTTTAAAAAAAAGAACATAAATTGTAGGCCAAATATTTTATGTATGAATGCTAATTATCATTTTATCTTTGCAGATTTTGAAATACATGGCCAAATATTTTATGTATGAATGATAATTATCATTTTATCTTTGCAGATTTTGAAAGACATAGCCAATCGATTCCATATGATGAATGGCTCCAAAATACATTTTGTGCCCGGCTGGG... | TTGATGATATTTCTTAGCTCAATATAAATAATATTAGACTATTTGTGTCAATAGTTTTTTTATGAGTTAATTTATACGTTTCCTTTCAAATTGCAGTTTTAAAAATGGTATTAAGTTTAAAAAAAAGAACATAAATTGTAGGCCAAATATTTTATGTATGAATGCTAATTATCATTTTATCTTTGCAGATTTTGAAATACATGGCCAAATATTTTATGTATGAATGATAATTATCATTTTATCTTTGCAGATTTTGAAAGACATAGCCAATCGATTCCATATGATGAATGGCTCCAAAATACATTTTGTGCCCGGCTGGG... | benign | 23,001 |
Variant at chromosome 1, position 220110770, gene IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTGGCCAGGCTGGTCTCAAACTCCCAGCCCCAAGTGATCCACCTGCCTAGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACCGTACCCAGCCACCTTCTTTAGGTCTTAAATGTCTCTCTGTGAATCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTATTGGAGGGACTGGTTCTTTATTTCAAAAAGACACTTGTCAATATTCAGTATCAAAGCAGGTGGACTATTGATTTCTGTTTCTCCCAATCGGCCCCAAAGAGACTATATCAAAGGACAGTACGTTTTAAGCCAGTATGCTGCAGGATGTACACCTGACA... | TTGGCCAGGCTGGTCTCAAACTCCCAGCCCCAAGTGATCCACCTGCCTAGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACCGTACCCAGCCACCTTCTTTAGGTCTTAAATGTCTCTCTGTGAATCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTATTGGAGGGACTGGTTCTTTATTTCAAAAAGACACTTGTCAATATTCAGTATCAAAGCAGGTGGACTATTGATTTCTGTTTCTCCCAATCGGCCCCAAAGAGACTATATCAAAGGACAGTACGTTTTAAGCCAGTATGCTGCAGGATGTACACCTGACA... | benign | 23,009 |
Does the chromosome 1 mutation at position 220147481 within gene IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATAGTGTTTCTTTTTATAACCTCAGTTTATGGTACAAATTTAACATAAACTGTAACTTTCACATGCTTCCTTCCAGATGCTGCAGTCTGAAGAGACTTCCAGCACCTCTCAGTTGAATGAATTAATGATGGCTTCTGAGTCAACTTTACTGGCTCAGGAACCACGAGAGATGACTGCAGATGTAATCGAGCTTAAAGGGAAATTCCTCATCAACTTAGAAGGTAAGAAGGAGATGAAAGTAACAAGTAACATCTGGAGAATTGAATAATTATAGGTCATCTCCAACTTTCCAGTGGACTGGGTTTATTCTAAAGGTAGAT... | ATAGTGTTTCTTTTTATAACCTCAGTTTATGGTACAAATTTAACATAAACTGTAACTTTCACATGCTTCCTTCCAGATGCTGCAGTCTGAAGAGACTTCCAGCACCTCTCAGTTGAATGAATTAATGATGGCTTCTGAGTCAACTTTACTGGCTCAGGAACCACGAGAGATGACTGCAGATGTAATCGAGCTTAAAGGGAAATTCCTCATCAACTTAGAAGGTAAGAAGGAGATGAAAGTAACAAGTAACATCTGGAGAATTGAATAATTATAGGTCATCTCCAACTTTCCAGTGGACTGGGTTTATTCTAAAGGTAGAT... | benign | 23,029 |
Clinical classification of chromosome 1, position 220196403, gene RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2): benign or pathogenic? Disease(s) if pathogenic? | benign | GTCTGTTTAAAGAGTGCCTGAATACAGGACTCCTGCTTTTACTTTTTTTTTTTGAGATGGAGTTTTTCGCTCTTGTCCCCCACTCTGGAGTGCAACAGTGCAATATCGGCTCACTGCAACCTCTGCCTCCCGGGTTTGAGCAATTCTCCTGCCTCAGCCACCGGAGTAGCTGGGATTACAGGCACATGCCATCATGCCTGACTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGAGCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATCCGCCTACCTAGGCCTCCCAAAGTGCTAGGATTACAGGCGT... | GTCTGTTTAAAGAGTGCCTGAATACAGGACTCCTGCTTTTACTTTTTTTTTTTGAGATGGAGTTTTTCGCTCTTGTCCCCCACTCTGGAGTGCAACAGTGCAATATCGGCTCACTGCAACCTCTGCCTCCCGGGTTTGAGCAATTCTCCTGCCTCAGCCACCGGAGTAGCTGGGATTACAGGCACATGCCATCATGCCTGACTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGAGCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATCCGCCTACCTAGGCCTCCCAAAGTGCTAGGATTACAGGCGT... | benign | 23,074 |
Clinical classification of chromosome 1, position 220196403, gene RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2): benign or pathogenic? Disease(s) if pathogenic? | benign | GTCTGTTTAAAGAGTGCCTGAATACAGGACTCCTGCTTTTACTTTTTTTTTTTGAGATGGAGTTTTTCGCTCTTGTCCCCCACTCTGGAGTGCAACAGTGCAATATCGGCTCACTGCAACCTCTGCCTCCCGGGTTTGAGCAATTCTCCTGCCTCAGCCACCGGAGTAGCTGGGATTACAGGCACATGCCATCATGCCTGACTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGAGCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATCCGCCTACCTAGGCCTCCCAAAGTGCTAGGATTACAGGCGT... | GTCTGTTTAAAGAGTGCCTGAATACAGGACTCCTGCTTTTACTTTTTTTTTTTGAGATGGAGTTTTTCGCTCTTGTCCCCCACTCTGGAGTGCAACAGTGCAATATCGGCTCACTGCAACCTCTGCCTCCCGGGTTTGAGCAATTCTCCTGCCTCAGCCACCGGAGTAGCTGGGATTACAGGCACATGCCATCATGCCTGACTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGAGCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATCCGCCTACCTAGGCCTCCCAAAGTGCTAGGATTACAGGCGT... | benign | 23,075 |
Variant on chromosome 1, at position 224190243, affecting DEGS1 (delta 4-desaturase, sphingolipid 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | CTGTAGTGAGCTATGATGGCATCACTGTACTTCAGCCTGAGTGACAGAGGTAGACCCTGTCTCTAAATATTTTAAGGTTCATTAAAATAATATATTTTCAATAAAATAATATTTCAATAAAATAATATTTTAAGGTTCATTCATGTTATAGCATATGTCAGTGTATGATTCCTTTTTCTGGCTGAATAATATTCCTTTGTATGGATATACCAGGTGTTTAACATTTTGAGGAACTGCTGTACAGTTTTCCAAAGCAGCTGCACCATTTTATATTCCCACTAGCAAAGTATGAGGGTTCTAATTTCTCCACATCCTTGTTT... | CTGTAGTGAGCTATGATGGCATCACTGTACTTCAGCCTGAGTGACAGAGGTAGACCCTGTCTCTAAATATTTTAAGGTTCATTAAAATAATATATTTTCAATAAAATAATATTTCAATAAAATAATATTTTAAGGTTCATTCATGTTATAGCATATGTCAGTGTATGATTCCTTTTTCTGGCTGAATAATATTCCTTTGTATGGATATACCAGGTGTTTAACATTTTGAGGAACTGCTGTACAGTTTTCCAAAGCAGCTGCACCATTTTATATTCCCACTAGCAAAGTATGAGGGTTCTAATTTCTCCACATCCTTGTTT... | pathogenic | 23,160 |
The genetic variant at chromosome 1, position 224192357, affecting gene DEGS1 (delta 4-desaturase, sphingolipid 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Leukodystrophy,_hypomyelinating,_18'] | GTCTTCCACTGGTAAGTAAAGGATTTGATACATATTCTAATTTTGTTTTTTCATTTGTTTGTTTTTTGAGACGGTGTCTCACTCAGTCGCCCAGGCTGGCGGGCAGTGGCACGATCTCGGCTCACTGTAACCTCCACCTCCCGGGTTCAAACGATTCTCATGCCTCAGTCTCCCAAGTAGTTGGGATTACAGGCGCATGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTAGTATTTTGTCAGTCCAAGCAGTTCATTAAAAAAAAAAAAAACAAAAAGAGCAAGAA... | GTCTTCCACTGGTAAGTAAAGGATTTGATACATATTCTAATTTTGTTTTTTCATTTGTTTGTTTTTTGAGACGGTGTCTCACTCAGTCGCCCAGGCTGGCGGGCAGTGGCACGATCTCGGCTCACTGTAACCTCCACCTCCCGGGTTCAAACGATTCTCATGCCTCAGTCTCCCAAGTAGTTGGGATTACAGGCGCATGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTAGTATTTTGTCAGTCCAAGCAGTTCATTAAAAAAAAAAAAAACAAAAAGAGCAAGAA... | pathogenic | 23,164 |
The mutation in gene WDR26 (WD repeat domain 26) at chromosome 1, position 224434067—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGCCATTTAATGCCTCAATTTAATGCATAAAGTATAAAATTTCTAAAAATGTGCTGTAACCAACTAGTCAAATAAATGAAAAACCAGAATCAACATACTACGTTACATTTTGAAAGATAAAAATTATTAGCTTCACACAAGGTTAACAGAGATGACCGTATCAGTTAAGAGCTTATATATCCAGGTATTATATTGCATAGAAATTCTACTAGGTCAATCTTTAAAATTAAAACAAATCCAGCATCAAAAATCATTCCCTTTCTCTCTATACTAAAAATAGCAAATTTACTATGGTGTAGGTTCCAAACAGTCACGAGTTA... | TGCCATTTAATGCCTCAATTTAATGCATAAAGTATAAAATTTCTAAAAATGTGCTGTAACCAACTAGTCAAATAAATGAAAAACCAGAATCAACATACTACGTTACATTTTGAAAGATAAAAATTATTAGCTTCACACAAGGTTAACAGAGATGACCGTATCAGTTAAGAGCTTATATATCCAGGTATTATATTGCATAGAAATTCTACTAGGTCAATCTTTAAAATTAAAACAAATCCAGCATCAAAAATCATTCCCTTTCTCTCTATACTAAAAATAGCAAATTTACTATGGTGTAGGTTCCAAACAGTCACGAGTTA... | benign | 23,175 |
Chromosome 1, position 225412649, gene LBR (lamin B receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GCTATCATTTCTGTGTTCCTGTCACAGTGGGTAACTTTACCGCAATCAAAGAGAACACTGGAATGACCCAAACTGAGGGACACTTACAAAATAACCAACCAGTACCTTCCAAAAAGTATCAAGGTCATGAGAGACAAGGAAAGCCTAAACAACTATTAGACTAGAGAAGACTAAGAAGGAATAACAACTAAATGTATTGTGGAGTCCTGTCGAGGTTCCTGGAACAGAAAAAGGACAACAGCGGAAAAACTGGTGAACTCGACTGAGGCCTGTGGACTTGGTAACCAATGCTGTCACTATGTTAATCTGCTGTTCTTCAT... | GCTATCATTTCTGTGTTCCTGTCACAGTGGGTAACTTTACCGCAATCAAAGAGAACACTGGAATGACCCAAACTGAGGGACACTTACAAAATAACCAACCAGTACCTTCCAAAAAGTATCAAGGTCATGAGAGACAAGGAAAGCCTAAACAACTATTAGACTAGAGAAGACTAAGAAGGAATAACAACTAAATGTATTGTGGAGTCCTGTCGAGGTTCCTGGAACAGAAAAAGGACAACAGCGGAAAAACTGGTGAACTCGACTGAGGCCTGTGGACTTGGTAACCAATGCTGTCACTATGTTAATCTGCTGTTCTTCAT... | benign | 23,226 |
Regarding the variant at chromosome 1 and position 225412649, affecting gene LBR (lamin B receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GCTATCATTTCTGTGTTCCTGTCACAGTGGGTAACTTTACCGCAATCAAAGAGAACACTGGAATGACCCAAACTGAGGGACACTTACAAAATAACCAACCAGTACCTTCCAAAAAGTATCAAGGTCATGAGAGACAAGGAAAGCCTAAACAACTATTAGACTAGAGAAGACTAAGAAGGAATAACAACTAAATGTATTGTGGAGTCCTGTCGAGGTTCCTGGAACAGAAAAAGGACAACAGCGGAAAAACTGGTGAACTCGACTGAGGCCTGTGGACTTGGTAACCAATGCTGTCACTATGTTAATCTGCTGTTCTTCAT... | GCTATCATTTCTGTGTTCCTGTCACAGTGGGTAACTTTACCGCAATCAAAGAGAACACTGGAATGACCCAAACTGAGGGACACTTACAAAATAACCAACCAGTACCTTCCAAAAAGTATCAAGGTCATGAGAGACAAGGAAAGCCTAAACAACTATTAGACTAGAGAAGACTAAGAAGGAATAACAACTAAATGTATTGTGGAGTCCTGTCGAGGTTCCTGGAACAGAAAAAGGACAACAGCGGAAAAACTGGTGAACTCGACTGAGGCCTGTGGACTTGGTAACCAATGCTGTCACTATGTTAATCTGCTGTTCTTCAT... | benign | 23,227 |
A mutation at chromosome position 225921246 on chromosome 1 in gene PYCR2 (pyrroline-5-carboxylate reductase 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypomyelinating_leukodystrophy_10'] | AAGTTGCTTATCCCTCTAGGCCTCCAGATGGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGTTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA... | AAGTTGCTTATCCCTCTAGGCCTCCAGATGGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGTTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA... | pathogenic | 23,291 |
The genetic variant at chromosome 1, position 225922212, affecting gene PYCR2 (pyrroline-5-carboxylate reductase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypomyelinating_leukodystrophy_10'] | GTCCCAGCCCCAGTCTCCACCAACTGAGCAGCGTACGCAGGGTTGTGTCTGGCTTCCAGCATCTACCACCCCTTCAGAGCAACTTCCAACATGGGACAGGAGAGGAAGCTCGCATTGCTTGGTCTGAACAGATTTAAGGAGGTTTTATCACAAGGACCTGAAAACTTCCTAAGCATGCTTTCTCCTTGCACAGCTGAGGAGGGGCAATGGTGGGAGCGGGGCAGGGGGGTGGCAGGGGCGGCAGGGGCTCTCAACTAAGGGCTCTGAATCACAGAGGGGACAGATGCTGCCTTAGTCCTTCTTGCCTCCCAGGGCCAGGC... | GTCCCAGCCCCAGTCTCCACCAACTGAGCAGCGTACGCAGGGTTGTGTCTGGCTTCCAGCATCTACCACCCCTTCAGAGCAACTTCCAACATGGGACAGGAGAGGAAGCTCGCATTGCTTGGTCTGAACAGATTTAAGGAGGTTTTATCACAAGGACCTGAAAACTTCCTAAGCATGCTTTCTCCTTGCACAGCTGAGGAGGGGCAATGGTGGGAGCGGGGCAGGGGGGTGGCAGGGGCGGCAGGGGCTCTCAACTAAGGGCTCTGAATCACAGAGGGGACAGATGCTGCCTTAGTCCTTCTTGCCTCCCAGGGCCAGGC... | pathogenic | 23,298 |
Assess the variant on chromosome 1, position 225922269, impacting PYCR2 (pyrroline-5-carboxylate reductase 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypomyelinating_leukodystrophy_10'] | AGCATCTACCACCCCTTCAGAGCAACTTCCAACATGGGACAGGAGAGGAAGCTCGCATTGCTTGGTCTGAACAGATTTAAGGAGGTTTTATCACAAGGACCTGAAAACTTCCTAAGCATGCTTTCTCCTTGCACAGCTGAGGAGGGGCAATGGTGGGAGCGGGGCAGGGGGGTGGCAGGGGCGGCAGGGGCTCTCAACTAAGGGCTCTGAATCACAGAGGGGACAGATGCTGCCTTAGTCCTTCTTGCCTCCCAGGGCCAGGCTTCTTGTGAGGAGCTTCCCTGGGCTGGAGGGGGTCAGTGTGGAGACTGTGGGGGATT... | AGCATCTACCACCCCTTCAGAGCAACTTCCAACATGGGACAGGAGAGGAAGCTCGCATTGCTTGGTCTGAACAGATTTAAGGAGGTTTTATCACAAGGACCTGAAAACTTCCTAAGCATGCTTTCTCCTTGCACAGCTGAGGAGGGGCAATGGTGGGAGCGGGGCAGGGGGGTGGCAGGGGCGGCAGGGGCTCTCAACTAAGGGCTCTGAATCACAGAGGGGACAGATGCTGCCTTAGTCCTTCTTGCCTCCCAGGGCCAGGCTTCTTGTGAGGAGCTTCCCTGGGCTGGAGGGGGTCAGTGTGGAGACTGTGGGGGATT... | pathogenic | 23,300 |
Does the variant impacting PYCR2 (pyrroline-5-carboxylate reductase 2) on chromosome 1, position 225922388, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCTTTCTCCTTGCACAGCTGAGGAGGGGCAATGGTGGGAGCGGGGCAGGGGGGTGGCAGGGGCGGCAGGGGCTCTCAACTAAGGGCTCTGAATCACAGAGGGGACAGATGCTGCCTTAGTCCTTCTTGCCTCCCAGGGCCAGGCTTCTTGTGAGGAGCTTCCCTGGGCTGGAGGGGGTCAGTGTGGAGACTGTGGGGGATTCCAGCTTCACTCTGTCTAAGAGGGTCTTCTTAAGGGCAGCTGGGGAGATCTTTTCTTGGTCGGCCATGGACTGTAGCTCTCTGCAGACAAAACCCCAGAAGGATTAAAGGAAGGCAATA... | GCTTTCTCCTTGCACAGCTGAGGAGGGGCAATGGTGGGAGCGGGGCAGGGGGGTGGCAGGGGCGGCAGGGGCTCTCAACTAAGGGCTCTGAATCACAGAGGGGACAGATGCTGCCTTAGTCCTTCTTGCCTCCCAGGGCCAGGCTTCTTGTGAGGAGCTTCCCTGGGCTGGAGGGGGTCAGTGTGGAGACTGTGGGGGATTCCAGCTTCACTCTGTCTAAGAGGGTCTTCTTAAGGGCAGCTGGGGAGATCTTTTCTTGGTCGGCCATGGACTGTAGCTCTCTGCAGACAAAACCCCAGAAGGATTAAAGGAAGGCAATA... | benign | 23,301 |
Is the genetic variant on chromosome 1, position 226961512, gene COQ8A (coenzyme Q8A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | CACTTTGCATGGTAAGGGGAGGTGTGGGTGTGGCCCCTAAACAGTAGGTCAGCGATATTTGTCAAAGGGGGGTGGGTACAGGCTGTGGTTTTGAAATGAGTCTACATGTTAGTCTGCTCACAAATGACAGACTGTGTTTATTAGCAGCATCTGTTTATTAGCAGTCTGTGTTTATTGATTTGAGAAGAACAGGTTTTGCATCCCAGTATGCAGGACCACATATCTATGGGGTATTTCCCCTATTGGGCCCTCCTTCCAGCGGAGTGGGTGCTCACCATCTCTGCTTCCTGGCTCTGGCGCCACTGTCTAGGGTGGGGCTT... | CACTTTGCATGGTAAGGGGAGGTGTGGGTGTGGCCCCTAAACAGTAGGTCAGCGATATTTGTCAAAGGGGGGTGGGTACAGGCTGTGGTTTTGAAATGAGTCTACATGTTAGTCTGCTCACAAATGACAGACTGTGTTTATTAGCAGCATCTGTTTATTAGCAGTCTGTGTTTATTGATTTGAGAAGAACAGGTTTTGCATCCCAGTATGCAGGACCACATATCTATGGGGTATTTCCCCTATTGGGCCCTCCTTCCAGCGGAGTGGGTGCTCACCATCTCTGCTTCCTGGCTCTGGCGCCACTGTCTAGGGTGGGGCTT... | pathogenic | 23,396 |
Assess the variant on chromosome 1, position 226965714, impacting COQ8A (coenzyme Q8A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency'] | GCAATCTCTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCTTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACTGGCATAAATACAACTTGTTTCTACTCTGAGAGTAGTGCCACAGCCAGCAGGGCCAGCCTGGGTGTTGGATCCCGGCTCTGTCATTT... | GCAATCTCTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCTTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACTGGCATAAATACAACTTGTTTCTACTCTGAGAGTAGTGCCACAGCCAGCAGGGCCAGCCTGGGTGTTGGATCCCGGCTCTGTCATTT... | pathogenic | 23,410 |
Variant at chromosome 1, position 226983883, gene COQ8A (coenzyme Q8A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CGTAGGGCCTGGGCATGTGGCTCACACAGGCTTGGGGAGGTGGACATGGAACAGTAGTTAGTTATGTTGCTGGTTTTATGGACGCCTGGGAGGAAGGACATTGTCTGAGCCTCCGTCTGTATCAGGTGGGGCTTGCCATCCCACTCCCAGACCCCCCCGAGTGCCGTGGTGACCCCTCTTGCCCGCCCACAGGGAAGAAGGCCGTGCTGGGTTCCAGTCCTTTCCTGTCCGAGGCCAATGCAGAGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAGCTGGGCCAGATGCTGAGCATCCAGGGTGAG... | CGTAGGGCCTGGGCATGTGGCTCACACAGGCTTGGGGAGGTGGACATGGAACAGTAGTTAGTTATGTTGCTGGTTTTATGGACGCCTGGGAGGAAGGACATTGTCTGAGCCTCCGTCTGTATCAGGTGGGGCTTGCCATCCCACTCCCAGACCCCCCCGAGTGCCGTGGTGACCCCTCTTGCCCGCCCACAGGGAAGAAGGCCGTGCTGGGTTCCAGTCCTTTCCTGTCCGAGGCCAATGCAGAGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAGCTGGGCCAGATGCTGAGCATCCAGGGTGAG... | benign | 23,460 |
Considering the genetic mutation at chromosome 1, position 226984168, impacting COQ8A (coenzyme Q8A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency'] | TCAAGCTGGGCCAGATGCTGAGCATCCAGGGTGAGTGGGCGCGGGGGCTGCTGCCCCGGGACTGCGTGGGCTGCTGGGGGGGTCAACTTCCAGGGCCGGGAGCAGTGGCCCCACCAAAGCTCAGTGGGCAAGATGTGAGCAGGCTGGGGAGAGATCTTAGAAGATAATAGGCCTGGTCTCCAGACGGGTGGCTCTGGGTCCAAAGAAACACATGGAATAAAGAGCAGAGAGGAAAAATTGCTCTCTACAGGTGGTCAGAACACAGGTCATTTCAACATTTTACTATGTTTTATTTTCCAAATTTCTTTTGTAATTATGAA... | TCAAGCTGGGCCAGATGCTGAGCATCCAGGGTGAGTGGGCGCGGGGGCTGCTGCCCCGGGACTGCGTGGGCTGCTGGGGGGGTCAACTTCCAGGGCCGGGAGCAGTGGCCCCACCAAAGCTCAGTGGGCAAGATGTGAGCAGGCTGGGGAGAGATCTTAGAAGATAATAGGCCTGGTCTCCAGACGGGTGGCTCTGGGTCCAAAGAAACACATGGAATAAAGAGCAGAGAGGAAAAATTGCTCTCTACAGGTGGTCAGAACACAGGTCATTTCAACATTTTACTATGTTTTATTTTCCAAATTTCTTTTGTAATTATGAA... | pathogenic | 23,468 |
Is the variant located on chromosome 1 at position 226984194, gene COQ8A (coenzyme Q8A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency'] | CAGGGTGAGTGGGCGCGGGGGCTGCTGCCCCGGGACTGCGTGGGCTGCTGGGGGGGTCAACTTCCAGGGCCGGGAGCAGTGGCCCCACCAAAGCTCAGTGGGCAAGATGTGAGCAGGCTGGGGAGAGATCTTAGAAGATAATAGGCCTGGTCTCCAGACGGGTGGCTCTGGGTCCAAAGAAACACATGGAATAAAGAGCAGAGAGGAAAAATTGCTCTCTACAGGTGGTCAGAACACAGGTCATTTCAACATTTTACTATGTTTTATTTTCCAAATTTCTTTTGTAATTATGAAAAACTCTGCATGTTGAGTGTAAAAAG... | CAGGGTGAGTGGGCGCGGGGGCTGCTGCCCCGGGACTGCGTGGGCTGCTGGGGGGGTCAACTTCCAGGGCCGGGAGCAGTGGCCCCACCAAAGCTCAGTGGGCAAGATGTGAGCAGGCTGGGGAGAGATCTTAGAAGATAATAGGCCTGGTCTCCAGACGGGTGGCTCTGGGTCCAAAGAAACACATGGAATAAAGAGCAGAGAGGAAAAATTGCTCTCTACAGGTGGTCAGAACACAGGTCATTTCAACATTTTACTATGTTTTATTTTCCAAATTTCTTTTGTAATTATGAAAAACTCTGCATGTTGAGTGTAAAAAG... | pathogenic | 23,470 |
Chromosome 1, position 226984232, gene COQ8A (coenzyme Q8A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency'] | CGTGGGCTGCTGGGGGGGTCAACTTCCAGGGCCGGGAGCAGTGGCCCCACCAAAGCTCAGTGGGCAAGATGTGAGCAGGCTGGGGAGAGATCTTAGAAGATAATAGGCCTGGTCTCCAGACGGGTGGCTCTGGGTCCAAAGAAACACATGGAATAAAGAGCAGAGAGGAAAAATTGCTCTCTACAGGTGGTCAGAACACAGGTCATTTCAACATTTTACTATGTTTTATTTTCCAAATTTCTTTTGTAATTATGAAAAACTCTGCATGTTGAGTGTAAAAAGCCCACCTTCTCAGGTCACTGGGCGGAGGCTGGGGCTCC... | CGTGGGCTGCTGGGGGGGTCAACTTCCAGGGCCGGGAGCAGTGGCCCCACCAAAGCTCAGTGGGCAAGATGTGAGCAGGCTGGGGAGAGATCTTAGAAGATAATAGGCCTGGTCTCCAGACGGGTGGCTCTGGGTCCAAAGAAACACATGGAATAAAGAGCAGAGAGGAAAAATTGCTCTCTACAGGTGGTCAGAACACAGGTCATTTCAACATTTTACTATGTTTTATTTTCCAAATTTCTTTTGTAATTATGAAAAACTCTGCATGTTGAGTGTAAAAAGCCCACCTTCTCAGGTCACTGGGCGGAGGCTGGGGCTCC... | pathogenic | 23,471 |
Variant in COQ8A (coenzyme Q8A), chromosome 1, position 226985304—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency'] | GCTTGATTTGGGGTGGGCAAGGACAGGGGACAAGTGATTGCTTTTTGGGGCCAGAGCTGGTGGGAGGGTGGCCGTGAGCTGTTCCCAGGGGTGAGGTGAGGCAGGAGTAGGTGGACAACGAGGCTGTGATGGGGTCCAGGTCACGGCAGCATGGCTGGGTCTTAGCTCTGGTTCTCCAGGGTGTGGGCTGGGGCCAGGACACAGCTGGGAAGCCAGTTGGGGGTTGGGGGAGTGCCCCAGGCAGGGCCCACCCGTCTCCCTGGGCTAACTCCCCTGCCTCACCCATACCCCCACAGTACCCTGGCGTGGCCCAGAGCATC... | GCTTGATTTGGGGTGGGCAAGGACAGGGGACAAGTGATTGCTTTTTGGGGCCAGAGCTGGTGGGAGGGTGGCCGTGAGCTGTTCCCAGGGGTGAGGTGAGGCAGGAGTAGGTGGACAACGAGGCTGTGATGGGGTCCAGGTCACGGCAGCATGGCTGGGTCTTAGCTCTGGTTCTCCAGGGTGTGGGCTGGGGCCAGGACACAGCTGGGAAGCCAGTTGGGGGTTGGGGGAGTGCCCCAGGCAGGGCCCACCCGTCTCCCTGGGCTAACTCCCCTGCCTCACCCATACCCCCACAGTACCCTGGCGTGGCCCAGAGCATC... | pathogenic | 23,481 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 226986534, gene COQ8A (coenzyme Q8A). What disease(s) is it linked to if pathogenic? | pathogenic | AGTCTCCCAGGGCACCAGGCAGTGTGGTGCTGCCTGACACAGACCCTTCGCGCTGTCCACAGATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCC... | AGTCTCCCAGGGCACCAGGCAGTGTGGTGCTGCCTGACACAGACCCTTCGCGCTGTCCACAGATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCC... | pathogenic | 23,489 |
Variant at chromosome 1, position 226986538, gene COQ8A (coenzyme Q8A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency'] | TCCCAGGGCACCAGGCAGTGTGGTGCTGCCTGACACAGACCCTTCGCGCTGTCCACAGATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCCCCTT... | TCCCAGGGCACCAGGCAGTGTGGTGCTGCCTGACACAGACCCTTCGCGCTGTCCACAGATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCCCCTT... | pathogenic | 23,490 |
Determine whether the variant at chromosome 1, position 226986583, in gene COQ8A (coenzyme Q8A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic | GCGCTGTCCACAGATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCCCCTTCCCGGCCCCACACACCCGCACCATGGAGCACCAGGGCCAAACTTC... | GCGCTGTCCACAGATCTGCTACAACATCCTGGTTCTGTGCCTGAGGGAGCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCCCCTTCCCGGCCCCACACACCCGCACCATGGAGCACCAGGGCCAAACTTC... | pathogenic | 23,491 |
A mutation at chromosome position 226986631 on chromosome 1 in gene COQ8A (coenzyme Q8A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency'] | GCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCCCCTTCCCGGCCCCACACACCCGCACCATGGAGCACCAGGGCCAAACTTCTCCTGGTGTCTCTGTCCCCAGGTGGCTCTTTTGGATTTTGGGGCAACG... | GCTGTTCGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCCCCTTCCCGGCCCCACACACCCGCACCATGGAGCACCAGGGCCAAACTTCTCCTGGTGTCTCTGTCCCCAGGTGGCTCTTTTGGATTTTGGGGCAACG... | pathogenic | 23,495 |
The mutation impacting COQ8A (coenzyme Q8A) on chromosome 1 at position 226987544: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCATGCTGCCCTGCTGAGCGTGAGATTTTCCGAGTGGGCCAGTGAGTTGGGGACTTGTCGTGAAGCTCTTGTTTCTGCCTCTCACTCTTGCCCACTTAGGGCTTGGGGTTGGGCCTCGATTGAGCCAACGTGCAGAGCAAGTGGGAAGGGAAGCCCCAGCCCTCCCCTCATCGAGCCTCCCTGGGGGGAGTTGGAAGAAACCTTAGAAGCCTTTTAAATAAAGGGGAACGGTCTGTGCTGGTGCCGCCTGAAGCCACCCACAAAGTGGCATTTTCCGCTTGCTGCTTGACAGTGGGGAAGGAGTTAAAGAAATCCAGGTC... | CCATGCTGCCCTGCTGAGCGTGAGATTTTCCGAGTGGGCCAGTGAGTTGGGGACTTGTCGTGAAGCTCTTGTTTCTGCCTCTCACTCTTGCCCACTTAGGGCTTGGGGTTGGGCCTCGATTGAGCCAACGTGCAGAGCAAGTGGGAAGGGAAGCCCCAGCCCTCCCCTCATCGAGCCTCCCTGGGGGGAGTTGGAAGAAACCTTAGAAGCCTTTTAAATAAAGGGGAACGGTCTGTGCTGGTGCCGCCTGAAGCCACCCACAAAGTGGCATTTTCCGCTTGCTGCTTGACAGTGGGGAAGGAGTTAAAGAAATCCAGGTC... | benign | 23,503 |
A genetic variant on chromosome 1, position 228158065, affects the gene GJC2 (gap junction protein gamma 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypomyelinating_leukodystrophy_2'] | GTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGCATCTGCATGTGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTAACCCT... | GTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGCATCTGCATGTGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTAACCCT... | pathogenic | 23,535 |
Gene mutation in GJC2 (gap junction protein gamma 2) at chromosome 1, position 228158127—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hypomyelinating_leukodystrophy_2'] | CAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGCATCTGCATGTGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTAACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATGGGTATCT... | CAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGCATCTGCATGTGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTAACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATGGGTATCT... | pathogenic | 23,536 |
Considering the genetic mutation at chromosome 1, position 228158145, impacting GJC2 (gap junction protein gamma 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Spastic_paraplegia'] | GGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGCATCTGCATGTGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTAACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATGGGTATCTGCATATGCATGTGCGTGT... | GGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGCATCTGCATGTGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTAACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATGGGTATCTGCATATGCATGTGCGTGT... | pathogenic | 23,537 |
The genetic variant at chromosome 1, position 228158329, affecting gene GJC2 (gap junction protein gamma 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypomyelinating_leukodystrophy_2'] | TGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTAACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATGGGTATCTGCATATGCATGTGCGTGTTCATGCATGTGCACGTGTGTGCATGTGTACACATGTGAATCTGTGGGTATGTATCTGAGTGTGTGTGCACATGTGAATGTGTGTGGCTCTGAGGGGTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGC... | TGAGTGCAAAGAAGCATGCCTGTGGATGTACACATACATCTGTTTGCATTAACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATGGGTATCTGCATATGCATGTGCGTGTTCATGCATGTGCACGTGTGTGCATGTGTACACATGTGAATCTGTGGGTATGTATCTGAGTGTGTGTGCACATGTGAATGTGTGTGGCTCTGAGGGGTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGC... | pathogenic | 23,539 |
Is the genetic change at chromosome 1, position 228158347, within gene GJC2 (gap junction protein gamma 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Pelizaeus-Merzbacher_disease', 'Spastic_paraplegia'] | CCTGTGGATGTACACATACATCTGTTTGCATTAACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATGGGTATCTGCATATGCATGTGCGTGTTCATGCATGTGCACGTGTGTGCATGTGTACACATGTGAATCTGTGGGTATGTATCTGAGTGTGTGTGCACATGTGAATGTGTGTGGCTCTGAGGGGTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCC... | CCTGTGGATGTACACATACATCTGTTTGCATTAACCCTGTTTGCATGTGTGTCTGAGCATGCACGTGTACATGTGTATGCATGTGTGTGCATGGGTATCTGCATATGCATGTGCGTGTTCATGCATGTGCACGTGTGTGCATGTGTACACATGTGAATCTGTGGGTATGTATCTGAGTGTGTGTGCACATGTGAATGTGTGTGGCTCTGAGGGGTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCC... | pathogenic | 23,540 |
For chromosome 1, position 228158727, gene GJC2 (gap junction protein gamma 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Abnormality_of_the_nervous_system', 'Hypomyelinating_leukodystrophy_2'] | GAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGGCCCTGCTGCACAGCCCTTTCCTGGGCACTTGCCCACCTTGGGCTTGGCTGGTCTGCGGCATAGCTGTCTCTGAGGGTCGCAGGTGCTGAGTGTGGCCTCACATCACTGGGTCTATAACCTCGCTGGACACCGTCCCTCCTGGACGGACGACTGGCTTCATCCTGACCCCAGCTAGAGATGGTCTGGG... | GAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGGCCCTGCTGCACAGCCCTTTCCTGGGCACTTGCCCACCTTGGGCTTGGCTGGTCTGCGGCATAGCTGTCTCTGAGGGTCGCAGGTGCTGAGTGTGGCCTCACATCACTGGGTCTATAACCTCGCTGGACACCGTCCCTCCTGGACGGACGACTGGCTTCATCCTGACCCCAGCTAGAGATGGTCTGGG... | pathogenic | 23,545 |
For chromosome 1, position 228158882, gene GJC2 (gap junction protein gamma 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['GJC2-related_disorder', 'Hereditary_spastic_paraplegia_44', 'Hypomyelinating_leukodystrophy_2', 'Spastic_paraplegia'] | GGGCACTTGCCCACCTTGGGCTTGGCTGGTCTGCGGCATAGCTGTCTCTGAGGGTCGCAGGTGCTGAGTGTGGCCTCACATCACTGGGTCTATAACCTCGCTGGACACCGTCCCTCCTGGACGGACGACTGGCTTCATCCTGACCCCAGCTAGAGATGGTCTGGGTTGAGACCATGGAGGACCAGGAACCTAGACTGGGCGGGCGGAGCCCTGGGACCCTGGGCACCTGAGAAGGGCAGCGGGACCAGCCGGGGGCTGGAGGGAGGATGGAGGATTTTGTGGAGGTGGAGGGACCCCGACGCCCCTGTCCAGGGTGTGGA... | GGGCACTTGCCCACCTTGGGCTTGGCTGGTCTGCGGCATAGCTGTCTCTGAGGGTCGCAGGTGCTGAGTGTGGCCTCACATCACTGGGTCTATAACCTCGCTGGACACCGTCCCTCCTGGACGGACGACTGGCTTCATCCTGACCCCAGCTAGAGATGGTCTGGGTTGAGACCATGGAGGACCAGGAACCTAGACTGGGCGGGCGGAGCCCTGGGACCCTGGGCACCTGAGAAGGGCAGCGGGACCAGCCGGGGGCTGGAGGGAGGATGGAGGATTTTGTGGAGGTGGAGGGACCCCGACGCCCCTGTCCAGGGTGTGGA... | pathogenic | 23,547 |
A mutation at chromosome position 228158894 on chromosome 1 in gene GJC2 (gap junction protein gamma 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_spastic_paraplegia_44', 'Spastic_paraplegia'] | ACCTTGGGCTTGGCTGGTCTGCGGCATAGCTGTCTCTGAGGGTCGCAGGTGCTGAGTGTGGCCTCACATCACTGGGTCTATAACCTCGCTGGACACCGTCCCTCCTGGACGGACGACTGGCTTCATCCTGACCCCAGCTAGAGATGGTCTGGGTTGAGACCATGGAGGACCAGGAACCTAGACTGGGCGGGCGGAGCCCTGGGACCCTGGGCACCTGAGAAGGGCAGCGGGACCAGCCGGGGGCTGGAGGGAGGATGGAGGATTTTGTGGAGGTGGAGGGACCCCGACGCCCCTGTCCAGGGTGTGGAGGGACCCCGACG... | ACCTTGGGCTTGGCTGGTCTGCGGCATAGCTGTCTCTGAGGGTCGCAGGTGCTGAGTGTGGCCTCACATCACTGGGTCTATAACCTCGCTGGACACCGTCCCTCCTGGACGGACGACTGGCTTCATCCTGACCCCAGCTAGAGATGGTCTGGGTTGAGACCATGGAGGACCAGGAACCTAGACTGGGCGGGCGGAGCCCTGGGACCCTGGGCACCTGAGAAGGGCAGCGGGACCAGCCGGGGGCTGGAGGGAGGATGGAGGATTTTGTGGAGGTGGAGGGACCCCGACGCCCCTGTCCAGGGTGTGGAGGGACCCCGACG... | pathogenic | 23,548 |
Variant chromosome 1, position 228166073, gene IBA57 (iron-sulfur cluster assembly factor IBA57): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_74', 'Multiple_mitochondrial_dysfunctions_syndrome_3'] | GTGTTGGGGTTGAGCTCCATCTCCCCCAAGGCCGCCAGGCAGGGCCCCACACCACATGATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGT... | GTGTTGGGGTTGAGCTCCATCTCCCCCAAGGCCGCCAGGCAGGGCCCCACACCACATGATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGT... | pathogenic | 23,558 |
Gene IBA57 (iron-sulfur cluster assembly factor IBA57) variant at chromosome 1, position 228166131—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_spastic_paraplegia_74', 'IBA57-related_disorder', 'Inborn_genetic_diseases', 'Multiple_mitochondrial_dysfunctions_syndrome_3'] | ATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGTAGATGTGTCACCTACTACCAGGGAAAGTGGCCACTGTACAGGGCTGCTCAGCAGGGGG... | ATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGTAGATGTGTCACCTACTACCAGGGAAAGTGGCCACTGTACAGGGCTGCTCAGCAGGGGG... | pathogenic | 23,563 |
Gene IBA57 (iron-sulfur cluster assembly factor IBA57) variant at chromosome position 228174971 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | CCCACGTGTGTAAATGACATATGTTCCCCTCCCTTGTGGGTGTTGTTTTTGATGTCCTGTGACCGCTGTCCTGGAGTGTGGGCCAGATTCACTGGCTGTCACAGCTGGCTATGCCCACCCTCCCTGCGGCAGGGTCCTCAGTGAGACCTGTGCCTACTGGTTCTGGGTGATGAGCGTGAACGTTCTCCGTGGCTGCTGGCACGTGGGCATGACCACAGGGTAGAGTGAGACTGCAGAGATGAGGGCAGCAGGCCCCTGCTTGGCACCTGAAGCCCTGGGCAACTGGCAAGGACTGAGCCCTCTCCTGGCTGGAAGGGGCT... | CCCACGTGTGTAAATGACATATGTTCCCCTCCCTTGTGGGTGTTGTTTTTGATGTCCTGTGACCGCTGTCCTGGAGTGTGGGCCAGATTCACTGGCTGTCACAGCTGGCTATGCCCACCCTCCCTGCGGCAGGGTCCTCAGTGAGACCTGTGCCTACTGGTTCTGGGTGATGAGCGTGAACGTTCTCCGTGGCTGCTGGCACGTGGGCATGACCACAGGGTAGAGTGAGACTGCAGAGATGAGGGCAGCAGGCCCCTGCTTGGCACCTGAAGCCCTGGGCAACTGGCAAGGACTGAGCCCTCTCCTGGCTGGAAGGGGCT... | pathogenic | 23,574 |
A genetic variant at chromosome 1, position 229431540, affecting gene ACTA1 (actin alpha 1, skeletal muscle)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Alpha-actinopathy'] | CACACCACCATGACTAGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCC... | CACACCACCATGACTAGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCC... | pathogenic | 23,894 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 229431913, gene ACTA1 (actin alpha 1, skeletal muscle). What disease(s) is it linked to if pathogenic? | benign | ATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCA... | ATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCA... | benign | 23,909 |
A genetic variant at chromosome 1, position 229431916, affecting gene ACTA1 (actin alpha 1, skeletal muscle)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAG... | GTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAG... | benign | 23,910 |
Gene ACTA1 (actin alpha 1, skeletal muscle) variant at chromosome 1, position 229431916—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAG... | GTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAG... | benign | 23,912 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 229431936, gene ACTA1 (actin alpha 1, skeletal muscle). What disease(s) is it linked to if pathogenic? | benign | TAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAA... | TAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAA... | benign | 23,913 |
Is the variant located on chromosome 1 at position 229432344, gene ACTA1 (actin alpha 1, skeletal muscle), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['ACTA1-related_disorder', 'Actin_accumulation_myopathy', 'Alpha-actinopathy', 'Congenital_myopathy_2b,_severe_infantile,_autosomal_recessive'] | CCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATA... | CCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATA... | pathogenic | 23,928 |
The mutation impacting ACTA1 (actin alpha 1, skeletal muscle) on chromosome 1 at position 229432573: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Actin_accumulation_myopathy', 'Congenital_myopathy_2b,_severe_infantile,_autosomal_recessive'] | GAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCT... | GAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCT... | pathogenic | 23,940 |
A genetic variant on chromosome 1, position 229432792, affects the gene ACTA1 (actin alpha 1, skeletal muscle). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Actin_accumulation_myopathy', 'Alpha-actinopathy'] | CCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCC... | CCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCC... | pathogenic | 23,956 |
Is chromosome 1, position 229433031, gene ACTA1 (actin alpha 1, skeletal muscle) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Actin_accumulation_myopathy'] | CAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCAC... | CAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCAC... | pathogenic | 23,974 |
Variant on chromosome 1, at position 231265296, affecting GNPAT (glyceronephosphate O-acyltransferase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Rhizomelic_chondrodysplasia_punctata_type_2'] | AATATAGTTCAGTGGCATTAAGTACATTTACATTGTTGTGCTGCTATCAACACCATCCATCTCCAGAACTCTTCATCTTGCAAAACTGAAATGGTACCCATTCAACACACTCCCCGTTCTACCCTCCCCCTGACCCTGGGCAATCAGCATTCTACTTTCTGTCTCTGTGAACTACTCTAGATGCTTGATATAGGTGGAATCATACAGTACTTGTCCTTTTGTGACTGGCATATTTCACTTAACAGAATGCCCTCAAGGTTCATCCATGTTGCAGCATGTGTCAGAATTTCCTTCCTTTTTGAAGTTGGAAATGCATCTGC... | AATATAGTTCAGTGGCATTAAGTACATTTACATTGTTGTGCTGCTATCAACACCATCCATCTCCAGAACTCTTCATCTTGCAAAACTGAAATGGTACCCATTCAACACACTCCCCGTTCTACCCTCCCCCTGACCCTGGGCAATCAGCATTCTACTTTCTGTCTCTGTGAACTACTCTAGATGCTTGATATAGGTGGAATCATACAGTACTTGTCCTTTTGTGACTGGCATATTTCACTTAACAGAATGCCCTCAAGGTTCATCCATGTTGCAGCATGTGTCAGAATTTCCTTCCTTTTTGAAGTTGGAAATGCATCTGC... | pathogenic | 24,113 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 231266089, gene GNPAT (glyceronephosphate O-acyltransferase): what disease(s) if pathogenic? | pathogenic; ['Rhizomelic_chondrodysplasia_punctata_type_2'] | CTTTTCACTCTGTTGATTGTGTTATTTGATGCATGGAAGTTTTTAATTGATGTAGTCCAATTGATCTATTTGTTTCTTTGGTTCCCTGGTTCCCTGTGCTTTTGGTATCAGATCGAAGAAATCATTGCCAAATCCGAGGTCATGAAGCTTTTCCCTTATGTTTTATCCTAAGAGTTTTATGGTTTCAGGTCTTACATTAAGATCTTTGGTTTTTTGAGTTAATTTTTGTATATGGTGTAAGTTAAGGGTCCAACTTCATGTCTAACATTAATTTTAATAGCCATATAATATTCAGCAGTGTGGATATTTCATAATTTAGT... | CTTTTCACTCTGTTGATTGTGTTATTTGATGCATGGAAGTTTTTAATTGATGTAGTCCAATTGATCTATTTGTTTCTTTGGTTCCCTGGTTCCCTGTGCTTTTGGTATCAGATCGAAGAAATCATTGCCAAATCCGAGGTCATGAAGCTTTTCCCTTATGTTTTATCCTAAGAGTTTTATGGTTTCAGGTCTTACATTAAGATCTTTGGTTTTTTGAGTTAATTTTTGTATATGGTGTAAGTTAAGGGTCCAACTTCATGTCTAACATTAATTTTAATAGCCATATAATATTCAGCAGTGTGGATATTTCATAATTTAGT... | pathogenic | 24,119 |
Is the genetic change at chromosome 1, position 231266259, within gene GNPAT (glyceronephosphate O-acyltransferase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGAGTTTTATGGTTTCAGGTCTTACATTAAGATCTTTGGTTTTTTGAGTTAATTTTTGTATATGGTGTAAGTTAAGGGTCCAACTTCATGTCTAACATTAATTTTAATAGCCATATAATATTCAGCAGTGTGGATATTTCATAATTTAGTAGTTTTGCTGTTATAAACAATGTCATAATACATTTTTATATTGGTGCTTTTATTCCTGTAAGATCGATTCCTAAAAGTGGGATTGCTAAGGCATATAAGTTGTTTATCCACTCCCTTTTAGGGTAGCCAGGAAAGCCAGGATTCAAGTATACACGTTTGTTAATAAATGC... | AGAGTTTTATGGTTTCAGGTCTTACATTAAGATCTTTGGTTTTTTGAGTTAATTTTTGTATATGGTGTAAGTTAAGGGTCCAACTTCATGTCTAACATTAATTTTAATAGCCATATAATATTCAGCAGTGTGGATATTTCATAATTTAGTAGTTTTGCTGTTATAAACAATGTCATAATACATTTTTATATTGGTGCTTTTATTCCTGTAAGATCGATTCCTAAAAGTGGGATTGCTAAGGCATATAAGTTGTTTATCCACTCCCTTTTAGGGTAGCCAGGAAAGCCAGGATTCAAGTATACACGTTTGTTAATAAATGC... | benign | 24,124 |
A genetic variant on chromosome 1, position 231270906, affects the gene GNPAT (glyceronephosphate O-acyltransferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Rhizomelic_chondrodysplasia_punctata_type_2'] | ATTGCGCCACTGCACTCCAGCCTGGGTGATAGAGCGAGATTCCGTCTCAAAAAAAAAAAAAAATTGTACAGGCTACAGTTGGAAATGCGTTTTTTTTTAAAGACCAGATAATTATTTGAAGTCAAGTACCTACTGTTCTTTGATCAACCCAATACTGAATACCTCCTCTGTGCTGGGTACTACCAGGGATATGAAGATGAACAAGATGCCATCCCCATCCTGGACGTTCCCCTGGGTTGCAGAGGGCAGGGTGGGTGGGTAATGTGTAAACAAGTTGTGAGGGTTCAGTGAACAGAGACAAGGAGCAACATGCATGCTGC... | ATTGCGCCACTGCACTCCAGCCTGGGTGATAGAGCGAGATTCCGTCTCAAAAAAAAAAAAAAATTGTACAGGCTACAGTTGGAAATGCGTTTTTTTTTAAAGACCAGATAATTATTTGAAGTCAAGTACCTACTGTTCTTTGATCAACCCAATACTGAATACCTCCTCTGTGCTGGGTACTACCAGGGATATGAAGATGAACAAGATGCCATCCCCATCCTGGACGTTCCCCTGGGTTGCAGAGGGCAGGGTGGGTGGGTAATGTGTAAACAAGTTGTGAGGGTTCAGTGAACAGAGACAAGGAGCAACATGCATGCTGC... | pathogenic | 24,135 |
Classify the chromosome 1 variant at position 231270960 affecting gene GNPAT (glyceronephosphate O-acyltransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Rhizomelic_chondrodysplasia_punctata_type_2'] | AAAAAAAAATTGTACAGGCTACAGTTGGAAATGCGTTTTTTTTTAAAGACCAGATAATTATTTGAAGTCAAGTACCTACTGTTCTTTGATCAACCCAATACTGAATACCTCCTCTGTGCTGGGTACTACCAGGGATATGAAGATGAACAAGATGCCATCCCCATCCTGGACGTTCCCCTGGGTTGCAGAGGGCAGGGTGGGTGGGTAATGTGTAAACAAGTTGTGAGGGTTCAGTGAACAGAGACAAGGAGCAACATGCATGCTGCAGAGGGTTCCTGAGAGTGCTGCAGAGGAAAGGGACCATACTCAGGAAGACTTCA... | AAAAAAAAATTGTACAGGCTACAGTTGGAAATGCGTTTTTTTTTAAAGACCAGATAATTATTTGAAGTCAAGTACCTACTGTTCTTTGATCAACCCAATACTGAATACCTCCTCTGTGCTGGGTACTACCAGGGATATGAAGATGAACAAGATGCCATCCCCATCCTGGACGTTCCCCTGGGTTGCAGAGGGCAGGGTGGGTGGGTAATGTGTAAACAAGTTGTGAGGGTTCAGTGAACAGAGACAAGGAGCAACATGCATGCTGCAGAGGGTTCCTGAGAGTGCTGCAGAGGAAAGGGACCATACTCAGGAAGACTTCA... | pathogenic | 24,138 |
Regarding the variant found on chromosome 1 at position 231272366 in gene GNPAT (glyceronephosphate O-acyltransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Rhizomelic_chondrodysplasia_punctata'] | GTGTGTGTGTGTTGTATGTTTTAATGTATTCATACACTAATCATGGGCCTTTTTCTTAGTATTCTTACATTCCCGTGCATGTGACTTTCCAGTTATGTAACTTGCTGTTAGAAAACTTTAGATTCCCTTGGTTCCTGAAGTACACAGAAGTGGTGTTCATTTTCAGAGTAGAAACTGATGTGCCTTTCAGAATGGCTGACAAATTTTGGGGGTAAGAAAGTATGTTACATGTCCTTAGAGAGAGAGAAAGAATTGATTTATGAAATAGTACTTTTAAATTTTTCTTCAGATTTGGTATCATTACCGTAATTGGTAGACAG... | GTGTGTGTGTGTTGTATGTTTTAATGTATTCATACACTAATCATGGGCCTTTTTCTTAGTATTCTTACATTCCCGTGCATGTGACTTTCCAGTTATGTAACTTGCTGTTAGAAAACTTTAGATTCCCTTGGTTCCTGAAGTACACAGAAGTGGTGTTCATTTTCAGAGTAGAAACTGATGTGCCTTTCAGAATGGCTGACAAATTTTGGGGGTAAGAAAGTATGTTACATGTCCTTAGAGAGAGAGAAAGAATTGATTTATGAAATAGTACTTTTAAATTTTTCTTCAGATTTGGTATCATTACCGTAATTGGTAGACAG... | pathogenic | 24,142 |
Gene EGLN1 (egl-9 family hypoxia inducible factor 1) variant at chromosome 1, position 231366484—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGTAGAGATGTGATGTTATCATCTGGAAGGAAGGGGAGGAAGTAGAACAAAACTGAATATGGGCGAGGAAAAAACAATAAACTATCACTTTCTCCTGCAAATTCTCCTAAGTGAGATCACTATACTGAACATTCAATCCCATCCTAAGTCCACTGTTGGCTTCACTACACAATTTTTTTCCATGTTTTACATGAATAGCAATGGCAATCTTTTAATAAAAATTACTGAGCTTCCCATAGAAAAGGTCTCAAATTGAATACAAACTATACAGATGCTAAAAATGTCTTAAGTTGAAATATACAGAAAATTTCTGTATACTC... | TGTAGAGATGTGATGTTATCATCTGGAAGGAAGGGGAGGAAGTAGAACAAAACTGAATATGGGCGAGGAAAAAACAATAAACTATCACTTTCTCCTGCAAATTCTCCTAAGTGAGATCACTATACTGAACATTCAATCCCATCCTAAGTCCACTGTTGGCTTCACTACACAATTTTTTTCCATGTTTTACATGAATAGCAATGGCAATCTTTTAATAAAAATTACTGAGCTTCCCATAGAAAAGGTCTCAAATTGAATACAAACTATACAGATGCTAAAAATGTCTTAAGTTGAAATATACAGAAAATTTCTGTATACTC... | benign | 24,165 |
Is the genetic change at chromosome 1, position 231425029, within gene EGLN1 (egl-9 family hypoxia inducible factor 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTTAAAAAAAATCAAAAACTCATTTTTAAAACCTTTGAAATCCCGCCGAGTTCAAAACCCCATGAAGAAATTTTGGGCTACCAAGTTAAATGTAATCAATGCTCATTCCAATATCCAATTTAAACTGATGGGATTATTCCTGAAAAGTGAATTTTGATGGTAAATGAGCAGTACTACATTAACGACTCTCACATTTATTTTTAATAGAATCTGTGCTGCGCGGATGAATACAATTCTTTGTTTTACAGAGCATAAAAACCTTACCAGAAATAAGCCAAAGATGTTTCTTTCTGCTGCTATTTGTCTTAAGAATTAAAAG... | TTTTAAAAAAAATCAAAAACTCATTTTTAAAACCTTTGAAATCCCGCCGAGTTCAAAACCCCATGAAGAAATTTTGGGCTACCAAGTTAAATGTAATCAATGCTCATTCCAATATCCAATTTAAACTGATGGGATTATTCCTGAAAAGTGAATTTTGATGGTAAATGAGCAGTACTACATTAACGACTCTCACATTTATTTTTAATAGAATCTGTGCTGCGCGGATGAATACAATTCTTTGTTTTACAGAGCATAAAAACCTTACCAGAAATAAGCCAAAGATGTTTCTTTCTGCTGCTATTTGTCTTAAGAATTAAAAG... | benign | 24,297 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 234383706, gene COA6 (cytochrome c oxidase assembly factor 6): what disease(s) if pathogenic? | benign | AAATAGAGAAGCCAGTGAAAGAGCTGTTACAGCAACCCAAGTGAGAAATGATGAGGGTTTGTGCTGTGGCAGTGAAGAAGGGAAAAGAGATGTAAGTGTCTAGGTAGATGTGATGCGTTCATTGAAATAGGTATTAGAGGAGAAACATGTTTGGAGAGGAGCAAAGTTCTGGACAAGTTGGGACTGCAACATCAGTAGGACCTCTAAATGGAGTTGTCTTAGGCAGTTGGAGATGTGACAGGACATGCAAACATCTATTAATTTGTCACAAAAATGTTAAGGGCAATGTCCACTTCTTCCTTTGGTATCCTTATATAACA... | AAATAGAGAAGCCAGTGAAAGAGCTGTTACAGCAACCCAAGTGAGAAATGATGAGGGTTTGTGCTGTGGCAGTGAAGAAGGGAAAAGAGATGTAAGTGTCTAGGTAGATGTGATGCGTTCATTGAAATAGGTATTAGAGGAGAAACATGTTTGGAGAGGAGCAAAGTTCTGGACAAGTTGGGACTGCAACATCAGTAGGACCTCTAAATGGAGTTGTCTTAGGCAGTTGGAGATGTGACAGGACATGCAAACATCTATTAATTTGTCACAAAAATGTTAAGGGCAATGTCCACTTCTTCCTTTGGTATCCTTATATAACA... | benign | 24,339 |
Clinical classification of chromosome 1, position 235380161, gene TBCE (tubulin folding cofactor E): benign or pathogenic? Disease(s) if pathogenic? | benign | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | benign | 24,370 |
Is the genetic mutation found on chromosome 1 at position 235380161, within the gene TBCE (tubulin folding cofactor E), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | benign | 24,371 |
Considering the genetic mutation at chromosome 1, position 235380161, impacting TBCE (tubulin folding cofactor E): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | benign | 24,372 |
Variant on chromosome 1, at position 235380161, affecting TBCE (tubulin folding cofactor E): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | benign | 24,373 |
Is the chromosome 1, position 235380161 variant in TBCE (tubulin folding cofactor E) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | CATATTATATATGATAATATTAAAATAGAAAAATACTTTGTTCAATAGTTATGTAACTTGTCGTTTAAAAATCCTTGTACTTCAACACTGTTATCTTTTATTTGTGTTTTTTTGTTTGTTTGTTTTGAGACAGGCTCTAGCTCTGTTGCCTAGGCTGGAGCAGAGTGGCATGATCTTGGCTTACTGCAGCCTCAGTCTTCTGGGCTCACATGATCCTCCCACTTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACAATGCCTGGCTAATTTTTGTATTTTTTTTTGGTAGAGATAAGTTTCACTATGTTGCCC... | benign | 24,374 |
Considering the genetic mutation at chromosome 1, position 235401544, impacting TBCE (tubulin folding cofactor E): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_Kenny-Caffey_syndrome', 'Encephalopathy,_progressive,_with_amyotrophy_and_optic_atrophy', 'Hypoparathyroidism-retardation-dysmorphism_syndrome', 'TBCE-related_disorder'] | CCGGAGAGGCTCCCACCCCTCTACACTAGAGGCAGGAATGCTAATGTCTTTGAACTTCTAGATAGCTGAATCTGTGAAGGTTCTTGCATCCATGGAGGGCTTGGAAGCTCCACAGCCCTTCCCCTGTACCTCGCCTTAGCACACCTCTTCATCTAGATTCTTTGCAATATTTTTTATAATAAACCTGTAAATGTAAGTAAGTGTTTTCCTGAGTTCTGTGAGCCGCTCCAGCAAATTAATCAAATACAAAGAGGGGGCTGTTGGAACCCCAGCTGTTTGAAGCTGGTCGGTCAGAAGTTCCAGACGCCCAGGCTAGTGGC... | CCGGAGAGGCTCCCACCCCTCTACACTAGAGGCAGGAATGCTAATGTCTTTGAACTTCTAGATAGCTGAATCTGTGAAGGTTCTTGCATCCATGGAGGGCTTGGAAGCTCCACAGCCCTTCCCCTGTACCTCGCCTTAGCACACCTCTTCATCTAGATTCTTTGCAATATTTTTTATAATAAACCTGTAAATGTAAGTAAGTGTTTTCCTGAGTTCTGTGAGCCGCTCCAGCAAATTAATCAAATACAAAGAGGGGGCTGTTGGAACCCCAGCTGTTTGAAGCTGGTCGGTCAGAAGTTCCAGACGCCCAGGCTAGTGGC... | pathogenic | 24,377 |
For chromosome 1, position 235401552, gene TBCE (tubulin folding cofactor E): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_Kenny-Caffey_syndrome', 'Encephalopathy,_progressive,_with_amyotrophy_and_optic_atrophy', 'Hypoparathyroidism-retardation-dysmorphism_syndrome', 'TBCE-related_disorder'] | GCTCCCACCCCTCTACACTAGAGGCAGGAATGCTAATGTCTTTGAACTTCTAGATAGCTGAATCTGTGAAGGTTCTTGCATCCATGGAGGGCTTGGAAGCTCCACAGCCCTTCCCCTGTACCTCGCCTTAGCACACCTCTTCATCTAGATTCTTTGCAATATTTTTTATAATAAACCTGTAAATGTAAGTAAGTGTTTTCCTGAGTTCTGTGAGCCGCTCCAGCAAATTAATCAAATACAAAGAGGGGGCTGTTGGAACCCCAGCTGTTTGAAGCTGGTCGGTCAGAAGTTCCAGACGCCCAGGCTAGTGGCTGGTGGTC... | GCTCCCACCCCTCTACACTAGAGGCAGGAATGCTAATGTCTTTGAACTTCTAGATAGCTGAATCTGTGAAGGTTCTTGCATCCATGGAGGGCTTGGAAGCTCCACAGCCCTTCCCCTGTACCTCGCCTTAGCACACCTCTTCATCTAGATTCTTTGCAATATTTTTTATAATAAACCTGTAAATGTAAGTAAGTGTTTTCCTGAGTTCTGTGAGCCGCTCCAGCAAATTAATCAAATACAAAGAGGGGGCTGTTGGAACCCCAGCTGTTTGAAGCTGGTCGGTCAGAAGTTCCAGACGCCCAGGCTAGTGGCTGGTGGTC... | pathogenic | 24,378 |
Regarding the variant found on chromosome 1 at position 235430775 in gene TBCE (tubulin folding cofactor E): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; [] | TCTGCCTCCCGGGTTTGAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGAGCCACCACGCCCAACTAATTTTTGTGTTTTTACTAGAGACGGGGTTTCACTATGTTGGCTAGGATAGTCTCAATCTCTTGACCTTGTGATCCGCCCACATCAGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACTGTGCCCAGCCTTATGTATGTATGTATATATGTATGTGTGTATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAAT... | TCTGCCTCCCGGGTTTGAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGAGCCACCACGCCCAACTAATTTTTGTGTTTTTACTAGAGACGGGGTTTCACTATGTTGGCTAGGATAGTCTCAATCTCTTGACCTTGTGATCCGCCCACATCAGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACTGTGCCCAGCCTTATGTATGTATGTATATATGTATGTGTGTATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAAT... | pathogenic | 24,393 |
Is the chromosome 1, position 235436567 variant in TBCE (tubulin folding cofactor E) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Encephalopathy,_progressive,_with_amyotrophy_and_optic_atrophy', 'TBCE-related_disorder'] | ATTAACTTGCTGTTTCTTTTTTTTCTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGATCTTGGCTCACTGTAACCTCCGCCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCATGCCCGGCTAATTTTCTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTTTACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGAGCCACTGTGCCTGGCCAACTTGCTGTTTCTAAATGGAAGTTCT... | ATTAACTTGCTGTTTCTTTTTTTTCTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGATCTTGGCTCACTGTAACCTCCGCCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCATGCCCGGCTAATTTTCTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTTTACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGAGCCACTGTGCCTGGCCAACTTGCTGTTTCTAAATGGAAGTTCT... | pathogenic | 24,404 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 235437393, gene TBCE (tubulin folding cofactor E): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_Kenny-Caffey_syndrome', 'Encephalopathy,_progressive,_with_amyotrophy_and_optic_atrophy', 'Hypoparathyroidism-retardation-dysmorphism_syndrome'] | CCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGCAGGTTTTTTAAATTAAATTTTTTTATTTTGAGATAATCATATATTCACATGAAGTTTTATAAGAAATGATACACAGAGATCACTTGTACCCATGACCCAGGTTCCCCCATTGGTAACAAGTTGCAAAACTATGATATAGGATCACAGGCTAGGTGTGACACTGATACCGGCAGGAATATGTGCATCACCACAGGGACCACTCAGGTTGCCCCTTTACAGTCATATTTACTTGCTTCTTATCCCCAGCCCTCCATCGCACCA... | CCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGCAGGTTTTTTAAATTAAATTTTTTTATTTTGAGATAATCATATATTCACATGAAGTTTTATAAGAAATGATACACAGAGATCACTTGTACCCATGACCCAGGTTCCCCCATTGGTAACAAGTTGCAAAACTATGATATAGGATCACAGGCTAGGTGTGACACTGATACCGGCAGGAATATGTGCATCACCACAGGGACCACTCAGGTTGCCCCTTTACAGTCATATTTACTTGCTTCTTATCCCCAGCCCTCCATCGCACCA... | pathogenic | 24,409 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 235465651, gene B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['B3GALNT2-related_disorder', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_11'] | CTGTCACCCAGGATGAAATGCAGTGGCAATCTCAGCTCAATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGCCCGACACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCAGCCTCCCAATTTCAAATCTTACTAAAAAGCTACATAATCAAGACAGTGTAGTACTGGTT... | CTGTCACCCAGGATGAAATGCAGTGGCAATCTCAGCTCAATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGCCCGACACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCAGCCTCCCAATTTCAAATCTTACTAAAAAGCTACATAATCAAGACAGTGTAGTACTGGTT... | pathogenic | 24,438 |
Evaluate this variant at chromosome 1, position 235465706, gene B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_11'] | CCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGCCCGACACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCAGCCTCCCAATTTCAAATCTTACTAAAAAGCTACATAATCAAGACAGTGTAGTACTGGTTAAAGACGCAGACACATAGATCAATGGAATAGAATTGAGAGTCCTCAAGTAAATCC... | CCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGCCCGACACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCAGCCTCCCAATTTCAAATCTTACTAAAAAGCTACATAATCAAGACAGTGTAGTACTGGTTAAAGACGCAGACACATAGATCAATGGAATAGAATTGAGAGTCCTCAAGTAAATCC... | pathogenic | 24,439 |
Determine if the mutation at chromosome 1, position 235470832 in gene B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AATTTTGGCATATGCTGGGTATTTTAAAGTTTCATAAATAGAAAAGGAGGCAAGATAATAAGGAAAGATATAATTCCATAAAACTTTCTATTTTCAGTAAAAAATTTTTCATAAGACTTAAAATGAACTTTAGTAAACAAGTGGTGTGTGTGTTTACTAAAGTAAACACCATCTTTATTGTCCTCCATTTACTTTATGAAATTTACCTGTCATAATAAATCCTAAATCCTAAACATGAATGAAATCCTAAACATGGCCTACAAATCTAAATGTATAACTACATATGAATCTATGGGTCTATTTGTTTAATGTCTTTCTTC... | AATTTTGGCATATGCTGGGTATTTTAAAGTTTCATAAATAGAAAAGGAGGCAAGATAATAAGGAAAGATATAATTCCATAAAACTTTCTATTTTCAGTAAAAAATTTTTCATAAGACTTAAAATGAACTTTAGTAAACAAGTGGTGTGTGTGTTTACTAAAGTAAACACCATCTTTATTGTCCTCCATTTACTTTATGAAATTTACCTGTCATAATAAATCCTAAATCCTAAACATGAATGAAATCCTAAACATGGCCTACAAATCTAAATGTATAACTACATATGAATCTATGGGTCTATTTGTTTAATGTCTTTCTTC... | benign | 24,440 |
Evaluate this variant at chromosome 1, position 235663082, gene LYST (lysosomal trafficking regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TTACATCTATTTTTATGAAATTTATTTCCAAATTGAAGAGGCAGTGTATATAAAGGTAACAGAGCTTGTGATAATTTACAGAAATGTTTGCTACAACATGCACATTATGAAGTATTTCAAACATATACATATTAGGTTTCATGCTGAATAAATAATCCCCCCAAATTAATTTTTATTTTTACATAAAAATATAATATTGCACTCTTAACAAGACCAGTTATTCTGCATATTTTCTCTTTAGATAAATGATGAAATTCGGTTTTTAAAAAAAGATGAGTAGCAACCCTATTCTAATAGGGGACTAATTTAAAGTTCTCAGT... | TTACATCTATTTTTATGAAATTTATTTCCAAATTGAAGAGGCAGTGTATATAAAGGTAACAGAGCTTGTGATAATTTACAGAAATGTTTGCTACAACATGCACATTATGAAGTATTTCAAACATATACATATTAGGTTTCATGCTGAATAAATAATCCCCCCAAATTAATTTTTATTTTTACATAAAAATATAATATTGCACTCTTAACAAGACCAGTTATTCTGCATATTTTCTCTTTAGATAAATGATGAAATTCGGTTTTTAAAAAAAGATGAGTAGCAACCCTATTCTAATAGGGGACTAATTTAAAGTTCTCAGT... | benign | 24,466 |
Variant at chromosome 1, position 235663082, gene LYST (lysosomal trafficking regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTACATCTATTTTTATGAAATTTATTTCCAAATTGAAGAGGCAGTGTATATAAAGGTAACAGAGCTTGTGATAATTTACAGAAATGTTTGCTACAACATGCACATTATGAAGTATTTCAAACATATACATATTAGGTTTCATGCTGAATAAATAATCCCCCCAAATTAATTTTTATTTTTACATAAAAATATAATATTGCACTCTTAACAAGACCAGTTATTCTGCATATTTTCTCTTTAGATAAATGATGAAATTCGGTTTTTAAAAAAAGATGAGTAGCAACCCTATTCTAATAGGGGACTAATTTAAAGTTCTCAGT... | TTACATCTATTTTTATGAAATTTATTTCCAAATTGAAGAGGCAGTGTATATAAAGGTAACAGAGCTTGTGATAATTTACAGAAATGTTTGCTACAACATGCACATTATGAAGTATTTCAAACATATACATATTAGGTTTCATGCTGAATAAATAATCCCCCCAAATTAATTTTTATTTTTACATAAAAATATAATATTGCACTCTTAACAAGACCAGTTATTCTGCATATTTTCTCTTTAGATAAATGATGAAATTCGGTTTTTAAAAAAAGATGAGTAGCAACCCTATTCTAATAGGGGACTAATTTAAAGTTCTCAGT... | benign | 24,467 |
Considering the variant on chromosome 1, location 235677536, involving gene LYST (lysosomal trafficking regulator), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Chédiak-Higashi_syndrome'] | TTTCTGCAGAAGTAAATGTGCCTTCCTGAGAAATCTTCTAAGTGCTAGTTTTTCTTTACGGCACCAAGCACTTGTTTCTAACAACTGTGTGCCAGAACATGGTGCACCCTAACTCCACAACCCTGACTCCAGGAGGACAGACACTCCAGCACTCAGGGCACTTCCAGACCTGGTCCTGTGCCTCTTCAGCCGCTGTTCATTTCTATCCTTTATAATAAATGATAGTTGTTAAGTATAAATAGTGTTTTACTGAGTTCTGTGAGTCATTCTAGCAAATTATTGAACCTGAGGGTGGGGCTCATGGCAGCCTCCAAATTTGC... | TTTCTGCAGAAGTAAATGTGCCTTCCTGAGAAATCTTCTAAGTGCTAGTTTTTCTTTACGGCACCAAGCACTTGTTTCTAACAACTGTGTGCCAGAACATGGTGCACCCTAACTCCACAACCCTGACTCCAGGAGGACAGACACTCCAGCACTCAGGGCACTTCCAGACCTGGTCCTGTGCCTCTTCAGCCGCTGTTCATTTCTATCCTTTATAATAAATGATAGTTGTTAAGTATAAATAGTGTTTTACTGAGTTCTGTGAGTCATTCTAGCAAATTATTGAACCTGAGGGTGGGGCTCATGGCAGCCTCCAAATTTGC... | pathogenic | 24,478 |
Determine whether the variant at chromosome 1, position 235709170, in gene LYST is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Chédiak-Higashi_syndrome', 'Inborn_genetic_diseases'] | TCCTTTCAGCGGCCTCATTTGGACTCTACTACTACATCCAGGCAGGCCCATCTACCTTGGAGAGGAAAGTTGGCTTTCCTCCTAACCCCCTTCACCCTATTTGAGTCTTATTTACTTTTGCATCCCCAGCACCTAGCAAAATAAATGTTTCCTGAAGAGGTAAGATTTTTTTTTTCTAAAGTTAGTCTAGCCAACAACATCAAAAAGTATACTTGAAAATGTAGGCCAGACATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACGAGGTCAGGAGTTTGAGACCAGTCTGGCCAAGAT... | TCCTTTCAGCGGCCTCATTTGGACTCTACTACTACATCCAGGCAGGCCCATCTACCTTGGAGAGGAAAGTTGGCTTTCCTCCTAACCCCCTTCACCCTATTTGAGTCTTATTTACTTTTGCATCCCCAGCACCTAGCAAAATAAATGTTTCCTGAAGAGGTAAGATTTTTTTTTTCTAAAGTTAGTCTAGCCAACAACATCAAAAAGTATACTTGAAAATGTAGGCCAGACATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACGAGGTCAGGAGTTTGAGACCAGTCTGGCCAAGAT... | pathogenic | 24,489 |
Regarding the variant found on chromosome 1 at position 235709245 in gene LYST: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Chédiak-Higashi_syndrome'] | TTCCTCCTAACCCCCTTCACCCTATTTGAGTCTTATTTACTTTTGCATCCCCAGCACCTAGCAAAATAAATGTTTCCTGAAGAGGTAAGATTTTTTTTTTCTAAAGTTAGTCTAGCCAACAACATCAAAAAGTATACTTGAAAATGTAGGCCAGACATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACGAGGTCAGGAGTTTGAGACCAGTCTGGCCAAGATGGTGAAACCCTGTCTCACTAAAAATACAAAAATTAGCCAGGTGCGGTGGTGGGCGCCTGTAATCCCAACTCCTTG... | TTCCTCCTAACCCCCTTCACCCTATTTGAGTCTTATTTACTTTTGCATCCCCAGCACCTAGCAAAATAAATGTTTCCTGAAGAGGTAAGATTTTTTTTTTCTAAAGTTAGTCTAGCCAACAACATCAAAAAGTATACTTGAAAATGTAGGCCAGACATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACGAGGTCAGGAGTTTGAGACCAGTCTGGCCAAGATGGTGAAACCCTGTCTCACTAAAAATACAAAAATTAGCCAGGTGCGGTGGTGGGCGCCTGTAATCCCAACTCCTTG... | pathogenic | 24,491 |
Chromosome 1, position 235712088, gene LYST (lysosomal trafficking regulator): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Chédiak-Higashi_syndrome'] | GCTTTTTGTGCTACATTTTCTAGTTTGCTGAACACCATAACAAAAATTAAAAATGACCTTTTAAAAGCTGATTAAGTTCCATGTAAAATTAAGTTGCTGTCTGTCTACTTTTTGATCTTGTAAAAACAGTTAGAAGGATCTTCACCAAAATACTTGGGAAGTATTTTGAAATGATATGATATGGAATATAAATCAAGGGTTTATATAAATTCACATGGGATGGGGATGTGAGCATCTCAGAAAGCTCAGCAGTCATCGTACAGAGCAGCTGCATGGTTGATTTAGGATGGACTGGCTGAGCACCTGCAGAACTCCATGTG... | GCTTTTTGTGCTACATTTTCTAGTTTGCTGAACACCATAACAAAAATTAAAAATGACCTTTTAAAAGCTGATTAAGTTCCATGTAAAATTAAGTTGCTGTCTGTCTACTTTTTGATCTTGTAAAAACAGTTAGAAGGATCTTCACCAAAATACTTGGGAAGTATTTTGAAATGATATGATATGGAATATAAATCAAGGGTTTATATAAATTCACATGGGATGGGGATGTGAGCATCTCAGAAAGCTCAGCAGTCATCGTACAGAGCAGCTGCATGGTTGATTTAGGATGGACTGGCTGAGCACCTGCAGAACTCCATGTG... | pathogenic | 24,494 |
Variant in gene LYST (lysosomal trafficking regulator), located at chromosome 1 position 235715131: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TAGTTGCTCTGCTGAGCAACATCTTCTGTCACTTGTATTACTTTCTCATCTATTCTGTTGAGTCAATTGGCATTGGCTGGCCACTAAAAAAAATCTGGGAAGAAATAAGGTTTAGAAACATTTACTTTTTCTCAGAAAGTAAGGAGGGCCACTTAAAGAAATACCTACTAACTTAGTAGAAAAAGTTATCAATCAAAATGGAATTCAGAAAAATTAAGGTAATTCTCAAAAACAAACAAAAAAACTAAAAGAAAAATTAAGGTAATTTTGTAAGGCTATGGTGAGGTCAAAGTATCTGGAGCTAAGACTAAGGAAATACG... | TAGTTGCTCTGCTGAGCAACATCTTCTGTCACTTGTATTACTTTCTCATCTATTCTGTTGAGTCAATTGGCATTGGCTGGCCACTAAAAAAAATCTGGGAAGAAATAAGGTTTAGAAACATTTACTTTTTCTCAGAAAGTAAGGAGGGCCACTTAAAGAAATACCTACTAACTTAGTAGAAAAAGTTATCAATCAAAATGGAATTCAGAAAAATTAAGGTAATTCTCAAAAACAAACAAAAAAACTAAAAGAAAAATTAAGGTAATTTTGTAAGGCTATGGTGAGGTCAAAGTATCTGGAGCTAAGACTAAGGAAATACG... | benign | 24,498 |
Evaluate this variant at chromosome 1, position 235720831, gene LYST (lysosomal trafficking regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Chédiak-Higashi_syndrome'] | ATTCTGTTCCTTTAATTGCCAAATTTCAAAGTAAGGAATTGGTGCCCTATTACCTCTAATGGGACCAATGAATTTTGTTTCACTGTGTTTCCTTGGCCTTTTAAAAAGTATCACTATGACCTTACGTTTCTTTTTATTTCCATGTGTTTCAACTAATTGCAGTCATTATTCTTTTTATTCTCAGACTATCCTATCTTTGGCAGCGAGAGGCACTTCAAGTTGGCTTCTGAGTCCTTTTCTATTTTTATTTTTTGAGACGGAGTTTCACTCTTGTTATCCAGGCTGGGGTGCAGTGGTGCAATCTCGGCTCATCGCAACCT... | ATTCTGTTCCTTTAATTGCCAAATTTCAAAGTAAGGAATTGGTGCCCTATTACCTCTAATGGGACCAATGAATTTTGTTTCACTGTGTTTCCTTGGCCTTTTAAAAAGTATCACTATGACCTTACGTTTCTTTTTATTTCCATGTGTTTCAACTAATTGCAGTCATTATTCTTTTTATTCTCAGACTATCCTATCTTTGGCAGCGAGAGGCACTTCAAGTTGGCTTCTGAGTCCTTTTCTATTTTTATTTTTTGAGACGGAGTTTCACTCTTGTTATCCAGGCTGGGGTGCAGTGGTGCAATCTCGGCTCATCGCAACCT... | pathogenic | 24,504 |
Assess the variant on chromosome 1, position 235724097, impacting LYST (lysosomal trafficking regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Chédiak-Higashi_syndrome'] | ACTTGAAAAAGTGACAAAGCAAATCATTAGGATTTCTAAGGAGAAAAACATTCCAGGCAACAATGAATGCAAAGTCCCCGAGGCACTGGTGTGCCTGACATTCAAGGCATGGATGGAGTAGACAGAGCGAGGGAGAGAACAGCAGACAATGACGTCAGAGAGGTAACAAGGTACGAGATTATCCAGGGCTTTATCAGGTTATTGGAAGGACTTTGCCTTTAACTGAATGTGACATGAAAGTGATTGAAGGATTCTGAGCAGAGAAAAGATATGATCCAACATACTTTAGCTGCTGTGTTGAGAATAATCTGAAGGGGGGC... | ACTTGAAAAAGTGACAAAGCAAATCATTAGGATTTCTAAGGAGAAAAACATTCCAGGCAACAATGAATGCAAAGTCCCCGAGGCACTGGTGTGCCTGACATTCAAGGCATGGATGGAGTAGACAGAGCGAGGGAGAGAACAGCAGACAATGACGTCAGAGAGGTAACAAGGTACGAGATTATCCAGGGCTTTATCAGGTTATTGGAAGGACTTTGCCTTTAACTGAATGTGACATGAAAGTGATTGAAGGATTCTGAGCAGAGAAAAGATATGATCCAACATACTTTAGCTGCTGTGTTGAGAATAATCTGAAGGGGGGC... | pathogenic | 24,507 |
Chromosome 1, position 235724120, gene LYST (lysosomal trafficking regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Chédiak-Higashi_syndrome'] | TCATTAGGATTTCTAAGGAGAAAAACATTCCAGGCAACAATGAATGCAAAGTCCCCGAGGCACTGGTGTGCCTGACATTCAAGGCATGGATGGAGTAGACAGAGCGAGGGAGAGAACAGCAGACAATGACGTCAGAGAGGTAACAAGGTACGAGATTATCCAGGGCTTTATCAGGTTATTGGAAGGACTTTGCCTTTAACTGAATGTGACATGAAAGTGATTGAAGGATTCTGAGCAGAGAAAAGATATGATCCAACATACTTTAGCTGCTGTGTTGAGAATAATCTGAAGGGGGGCTAAGGGGCTTTCTATAGAGGAGA... | TCATTAGGATTTCTAAGGAGAAAAACATTCCAGGCAACAATGAATGCAAAGTCCCCGAGGCACTGGTGTGCCTGACATTCAAGGCATGGATGGAGTAGACAGAGCGAGGGAGAGAACAGCAGACAATGACGTCAGAGAGGTAACAAGGTACGAGATTATCCAGGGCTTTATCAGGTTATTGGAAGGACTTTGCCTTTAACTGAATGTGACATGAAAGTGATTGAAGGATTCTGAGCAGAGAAAAGATATGATCCAACATACTTTAGCTGCTGTGTTGAGAATAATCTGAAGGGGGGCTAAGGGGCTTTCTATAGAGGAGA... | pathogenic | 24,508 |
For chromosome 1, position 235734592, gene LYST (lysosomal trafficking regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Chédiak-Higashi_syndrome'] | TTAGGATGATTAATACATATTGTCAAAATGTACAATGCCACCAAAGTTCTGAGTAAGGACAGCTAATATCCTGCGGTGAATATTAGCAGCCAAAATTTTTGTTAACATAAAAAGTAAAATGTGGTATCTAGAGGTTCTAGAAAACCAAATTAGCCTCTAGCAATATTGAATATTTTCCCGTGTGTTTGGTAATTCATTTGTCTTATGTGAGGAATGTGTTCATGCCTTTTGCTCATTCAAACTTCTGGGATCATAATATTTTACTTTAGAATCTGTGTAAGTTTTTCAAACAATAAAAATAACTTTATTTGCTGAAAATA... | TTAGGATGATTAATACATATTGTCAAAATGTACAATGCCACCAAAGTTCTGAGTAAGGACAGCTAATATCCTGCGGTGAATATTAGCAGCCAAAATTTTTGTTAACATAAAAAGTAAAATGTGGTATCTAGAGGTTCTAGAAAACCAAATTAGCCTCTAGCAATATTGAATATTTTCCCGTGTGTTTGGTAATTCATTTGTCTTATGTGAGGAATGTGTTCATGCCTTTTGCTCATTCAAACTTCTGGGATCATAATATTTTACTTTAGAATCTGTGTAAGTTTTTCAAACAATAAAAATAACTTTATTTGCTGAAAATA... | pathogenic | 24,522 |
Variant in gene LYST (lysosomal trafficking regulator), located at chromosome 1 position 235752179: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGGCATGCAGGAAGCTGAGCACTAATGCTAGAACTGATAAAGAATCTGTTTCTACTCAGGACAAAAGAGATGTACAACTGGGAGGGCAGCTCAAGAAGAGACAGTGCATTCAGATATTAAATAAGGAAGAATGTAGAGGGCAGTAAGTTTAGTTACATAGATGTTTTAGAAGTTTTATTTATATAAGTTTGATTTAGCATAATTTAAACATACTACTGCAAAACAATGGGTACTTGGTAGCTTTTCTTTACAAGTGAGTTTTTCACATGGTTTAAAATTTTTGCATAGCATTGAACACAGAAGTAGCTTAACACGGGTGA... | TGGCATGCAGGAAGCTGAGCACTAATGCTAGAACTGATAAAGAATCTGTTTCTACTCAGGACAAAAGAGATGTACAACTGGGAGGGCAGCTCAAGAAGAGACAGTGCATTCAGATATTAAATAAGGAAGAATGTAGAGGGCAGTAAGTTTAGTTACATAGATGTTTTAGAAGTTTTATTTATATAAGTTTGATTTAGCATAATTTAAACATACTACTGCAAAACAATGGGTACTTGGTAGCTTTTCTTTACAAGTGAGTTTTTCACATGGTTTAAAATTTTTGCATAGCATTGAACACAGAAGTAGCTTAACACGGGTGA... | benign | 24,533 |
Does the variant on chromosome 1 at location 235755388 affecting gene LYST (lysosomal trafficking regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ACTATGGGTCATCTTGCTAACTTGATTTTGAAGTCATAAAAACAAGTTGGGGGAGTAAGGATTCTTAACCTGTTTTTAAAATGACAGAGTCCCTCCAATAATAGGGTAAAAGCTGTTGCTAGAAGTCCATCCCAAGATAAATACACAAACATTCAAGTGAAATATGCATACAATTTCTTGGTTTTAACTGATTTATTTTAATTCATCCATGAGCCCTTTATGTCCAAAGAAACTATGTTTGGGGGCTTCAAGTGCACAGGAAAATTATTATTATTATTTTACATAGTATTTGAGAGACAGTGAGCTAGTAAAAAGAGGTC... | ACTATGGGTCATCTTGCTAACTTGATTTTGAAGTCATAAAAACAAGTTGGGGGAGTAAGGATTCTTAACCTGTTTTTAAAATGACAGAGTCCCTCCAATAATAGGGTAAAAGCTGTTGCTAGAAGTCCATCCCAAGATAAATACACAAACATTCAAGTGAAATATGCATACAATTTCTTGGTTTTAACTGATTTATTTTAATTCATCCATGAGCCCTTTATGTCCAAAGAAACTATGTTTGGGGGCTTCAAGTGCACAGGAAAATTATTATTATTATTTTACATAGTATTTGAGAGACAGTGAGCTAGTAAAAAGAGGTC... | benign | 24,534 |
Evaluate if the mutation on chromosome 1 at position 235755571 in LYST (lysosomal trafficking regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Chédiak-Higashi_syndrome'] | TTAACTGATTTATTTTAATTCATCCATGAGCCCTTTATGTCCAAAGAAACTATGTTTGGGGGCTTCAAGTGCACAGGAAAATTATTATTATTATTTTACATAGTATTTGAGAGACAGTGAGCTAGTAAAAAGAGGTCTAGCAAAAGGGAATGATTCTCGAGTTCTTATCCCAATACAACTTGCCTCTGGGATGGAATGAAATTAGCTAAGTATTTTGTGCCTCATTTTCCTTATCTGTCAAAAATATGTGGTGATATATGTCCTCTTTTCTTCTCAAGGCTATTGTGAGAATCAAATAAAGTAATGCACAATTGTTTCGT... | TTAACTGATTTATTTTAATTCATCCATGAGCCCTTTATGTCCAAAGAAACTATGTTTGGGGGCTTCAAGTGCACAGGAAAATTATTATTATTATTTTACATAGTATTTGAGAGACAGTGAGCTAGTAAAAAGAGGTCTAGCAAAAGGGAATGATTCTCGAGTTCTTATCCCAATACAACTTGCCTCTGGGATGGAATGAAATTAGCTAAGTATTTTGTGCCTCATTTTCCTTATCTGTCAAAAATATGTGGTGATATATGTCCTCTTTTCTTCTCAAGGCTATTGTGAGAATCAAATAAAGTAATGCACAATTGTTTCGT... | pathogenic | 24,537 |
Is the genetic variant on chromosome 1, position 235762863, gene LYST (lysosomal trafficking regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TCTGGATTTGGGCTAGAGGGCTAAAGTTGCCAAAAGATTCTCTTCAAAAGATCTGGAAAAAATGGGGGTATGATTGTATTTGAAAATGTTTCAACATGACAGATGATTTAAAAAACAAATATGTCCTGTAAAATTCCAAATAAAACTAATTCAAAAAGGCCAGGTGCAGTGGCTTGAGCCTGTAATCTCAGCACTTTGGGAGGCAGAGGTGGGTGGCTCACTTGAGCCCAAGAGTTCAAGACCAGCCTGGGCAAAAAGGCAAAACCCTATCTCATTTATTTAAAAAAAATTTTTTTTAAAAAGAAAAGGAAAACTAATAA... | TCTGGATTTGGGCTAGAGGGCTAAAGTTGCCAAAAGATTCTCTTCAAAAGATCTGGAAAAAATGGGGGTATGATTGTATTTGAAAATGTTTCAACATGACAGATGATTTAAAAAACAAATATGTCCTGTAAAATTCCAAATAAAACTAATTCAAAAAGGCCAGGTGCAGTGGCTTGAGCCTGTAATCTCAGCACTTTGGGAGGCAGAGGTGGGTGGCTCACTTGAGCCCAAGAGTTCAAGACCAGCCTGGGCAAAAAGGCAAAACCCTATCTCATTTATTTAAAAAAAATTTTTTTTAAAAAGAAAAGGAAAACTAATAA... | benign | 24,552 |
For chromosome 1, position 235775088, gene LYST (lysosomal trafficking regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGGGTGGTGGCTCATGCCTATAATCCCAGCATCTTGGGAAGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACATGTGTGAAACCCTGTCTACACCCAAAATACTAAAACTTAGCCAGGCATGGTGGCACACATCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGTATCATCTGAGCCTGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAAAAGAGTAAAACTCCATTTCAAAAAAAAAACAAAAACAAAAGCAAACAAACAAAAAAACGAG... | GGGGTGGTGGCTCATGCCTATAATCCCAGCATCTTGGGAAGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACATGTGTGAAACCCTGTCTACACCCAAAATACTAAAACTTAGCCAGGCATGGTGGCACACATCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGTATCATCTGAGCCTGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAAAAGAGTAAAACTCCATTTCAAAAAAAAAACAAAAACAAAAGCAAACAAACAAAAAAACGAG... | benign | 24,563 |
A mutation at chromosome position 235775088 on chromosome 1 in gene LYST (lysosomal trafficking regulator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GGGGTGGTGGCTCATGCCTATAATCCCAGCATCTTGGGAAGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACATGTGTGAAACCCTGTCTACACCCAAAATACTAAAACTTAGCCAGGCATGGTGGCACACATCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGTATCATCTGAGCCTGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAAAAGAGTAAAACTCCATTTCAAAAAAAAAACAAAAACAAAAGCAAACAAACAAAAAAACGAG... | GGGGTGGTGGCTCATGCCTATAATCCCAGCATCTTGGGAAGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACATGTGTGAAACCCTGTCTACACCCAAAATACTAAAACTTAGCCAGGCATGGTGGCACACATCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGTATCATCTGAGCCTGGGGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAAAAGAGTAAAACTCCATTTCAAAAAAAAAACAAAAACAAAAGCAAACAAACAAAAAAACGAG... | benign | 24,564 |
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