question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant in PYGL (glycogen phosphorylase L), chromosome 14, position 50911726—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_VI', 'PYGL-related_disorder'] | AACTCCTCCATGTGTCTGTACTTTTATTTGCTGGGTTTAATAATATTAATCTGTGGCCAGGAGGCTCTCCTGCCTCATCGTGGGAGATGTTCTGCTGCCACCTCTTATGTGATCCAATTTCAGTGGGATATCGGTGTGGGCAGGAAGCCCTCTGAGGTCACATACCTTCTAGGGGGGAGGGGCAGTCCTGCCTAGCAAAGAGAAGCTATTCTCTTACCCTTTCTTGTCCAAAGCAGCCACATCATCTATCCTCATGCCAAAGATGAACAGGTTCTCTTCCCCAGCTTCTTCTGCCATTTCCACATTGGCCCCATCCATGG... | AACTCCTCCATGTGTCTGTACTTTTATTTGCTGGGTTTAATAATATTAATCTGTGGCCAGGAGGCTCTCCTGCCTCATCGTGGGAGATGTTCTGCTGCCACCTCTTATGTGATCCAATTTCAGTGGGATATCGGTGTGGGCAGGAAGCCCTCTGAGGTCACATACCTTCTAGGGGGGAGGGGCAGTCCTGCCTAGCAAAGAGAAGCTATTCTCTTACCCTTTCTTGTCCAAAGCAGCCACATCATCTATCCTCATGCCAAAGATGAACAGGTTCTCTTCCCCAGCTTCTTCTGCCATTTCCACATTGGCCCCATCCATGG... | pathogenic | 221,424 |
Clinical classification of chromosome 14, position 50911872, gene PYGL (glycogen phosphorylase L): benign or pathogenic? Disease(s) if pathogenic? | benign | GCCCTCTGAGGTCACATACCTTCTAGGGGGGAGGGGCAGTCCTGCCTAGCAAAGAGAAGCTATTCTCTTACCCTTTCTTGTCCAAAGCAGCCACATCATCTATCCTCATGCCAAAGATGAACAGGTTCTCTTCCCCAGCTTCTTCTGCCATTTCCACATTGGCCCCATCCATGGTCCCGATAGTTAGGGCCCCATTTAGCATGAACTTCATATTGCCTGTCCCCGAGGCTTCGGTGCCTGCAGTGGAAATCTGCTCTGACAGATCTGTGGCTGGAATGACTGCAAGAAAGGTAAGTTAAAATTAGTAATTTTGTCTGTCT... | GCCCTCTGAGGTCACATACCTTCTAGGGGGGAGGGGCAGTCCTGCCTAGCAAAGAGAAGCTATTCTCTTACCCTTTCTTGTCCAAAGCAGCCACATCATCTATCCTCATGCCAAAGATGAACAGGTTCTCTTCCCCAGCTTCTTCTGCCATTTCCACATTGGCCCCATCCATGGTCCCGATAGTTAGGGCCCCATTTAGCATGAACTTCATATTGCCTGTCCCCGAGGCTTCGGTGCCTGCAGTGGAAATCTGCTCTGACAGATCTGTGGCTGGAATGACTGCAAGAAAGGTAAGTTAAAATTAGTAATTTTGTCTGTCT... | benign | 221,426 |
Variant at chromosome position 50917046, chromosome 14, gene PYGL (glycogen phosphorylase L): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glycogen_storage_disease,_type_VI'] | AAAGAATTACCAGAAAAATTCCAAATCTAGTCACTTCCATCTGACTTCTTCACACTGACATATATACTACACTTTCAGTAGAATAGTTTTTGGTATTTTGTTTGTTTGTTTGTTTTGGCTCCTATGTCTAGAATTAAGATGGCTCTGAGAGGAAAGCATTCTTTTCTTTCCTTTTCTTTTCTTTTTTTTTTTTAGGCAAGAGTTTTTTGTATAGAAGAAAATACTTTTAAACATTTGAACAAGGCCTTTCCTCATCCCTAAGTGCAACCCTGCATTTAGTAGCATCATTCCATTAATGGATCAGTGTCAGACCCACTGCC... | AAAGAATTACCAGAAAAATTCCAAATCTAGTCACTTCCATCTGACTTCTTCACACTGACATATATACTACACTTTCAGTAGAATAGTTTTTGGTATTTTGTTTGTTTGTTTGTTTTGGCTCCTATGTCTAGAATTAAGATGGCTCTGAGAGGAAAGCATTCTTTTCTTTCCTTTTCTTTTCTTTTTTTTTTTTAGGCAAGAGTTTTTTGTATAGAAGAAAATACTTTTAAACATTTGAACAAGGCCTTTCCTCATCCCTAAGTGCAACCCTGCATTTAGTAGCATCATTCCATTAATGGATCAGTGTCAGACCCACTGCC... | pathogenic | 221,449 |
Regarding the variant at chromosome 14 and position 50944359, affecting gene PYGL (glycogen phosphorylase L): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_VI'] | AGAACCAGGAAAACCATAAAGCACTGCATAAGCCACTGAAGGAAAAACATACAAGATTCTCTGGTGCTCTATGATGCTAAATGCTACAGAGGCGTGAGTGTGTGTTTCTAATATATGCTCAGTGTCCCACCCTTCCGCTTAAAATTGTTAAAAATAATTTTTAATGAGAGGCGCAGTATGGTGTACTTAGTAGCATTCCCTTTGTGTAAATAAATTTTTAAAAGATAGTGGCCGAGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCATTTGAGGCCAGGAGTTTGAGAGCAGCCT... | AGAACCAGGAAAACCATAAAGCACTGCATAAGCCACTGAAGGAAAAACATACAAGATTCTCTGGTGCTCTATGATGCTAAATGCTACAGAGGCGTGAGTGTGTGTTTCTAATATATGCTCAGTGTCCCACCCTTCCGCTTAAAATTGTTAAAAATAATTTTTAATGAGAGGCGCAGTATGGTGTACTTAGTAGCATTCCCTTTGTGTAAATAAATTTTTAAAAGATAGTGGCCGAGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCATTTGAGGCCAGGAGTTTGAGAGCAGCCT... | pathogenic | 221,466 |
The genetic variant at chromosome 14, position 53046760, affecting gene DDHD1 (DDHD domain containing 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | CATGGAGCCTTGGAATTTTTTTTAAACATTAAAAAGAAGTGCTTTATGTTGTTGTGCAAATTCAGCAAAAGGCCAAAACAGCCAACAGTACTGAAGCACTAAGTAAAACCTACAAGTAAGCCACAGATTCTACTATCTTATGAAGAAAGGAGGAGGTGAGAGATACAGCTGACCAACTTTGCTCCCAGTTTGACAATGATTATTGGGAAGCTAAGCAATTCCTTGCAAGTTAAGAAAAGACAGCACCTTAAGTGGAACCTAGTGGAAACCACTCAGAAGTGAGGGTTGTGTGCAACAGGGATGGCTACTGATCCCCTCTA... | CATGGAGCCTTGGAATTTTTTTTAAACATTAAAAAGAAGTGCTTTATGTTGTTGTGCAAATTCAGCAAAAGGCCAAAACAGCCAACAGTACTGAAGCACTAAGTAAAACCTACAAGTAAGCCACAGATTCTACTATCTTATGAAGAAAGGAGGAGGTGAGAGATACAGCTGACCAACTTTGCTCCCAGTTTGACAATGATTATTGGGAAGCTAAGCAATTCCTTGCAAGTTAAGAAAAGACAGCACCTTAAGTGGAACCTAGTGGAAACCACTCAGAAGTGAGGGTTGTGTGCAACAGGGATGGCTACTGATCCCCTCTA... | benign | 221,491 |
The mutation impacting DDHD1 (DDHD domain containing 1) on chromosome 14 at position 53051833: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAAATGAGAAAAGAAACTGTGTTTTTAAACAATCATCAACTCTTTGCTTACACTGTTTTAAAACACGGATTATTTTCTTTCTGGGGTGTCACATACATAGGCATATTTCTTTCCCTCTTCCCCAAAGTAGAGTATCTGCTACATTCCATGTGGAAGTGCTTGACAATCAAGGAATCTCCATAGTGTGAAGGTCAAGTGTCATCAGTAGCGTGCTTTCATCAGAGAATTCTTTTGTGCACAAGGCTTGTCAACAGACATATAATAAGTAATTATAATATATGGTAGAATGTGATGAACCACAAAACAGAGGTACAGTAAAG... | AAAATGAGAAAAGAAACTGTGTTTTTAAACAATCATCAACTCTTTGCTTACACTGTTTTAAAACACGGATTATTTTCTTTCTGGGGTGTCACATACATAGGCATATTTCTTTCCCTCTTCCCCAAAGTAGAGTATCTGCTACATTCCATGTGGAAGTGCTTGACAATCAAGGAATCTCCATAGTGTGAAGGTCAAGTGTCATCAGTAGCGTGCTTTCATCAGAGAATTCTTTTGTGCACAAGGCTTGTCAACAGACATATAATAAGTAATTATAATATATGGTAGAATGTGATGAACCACAAAACAGAGGTACAGTAAAG... | benign | 221,493 |
The mutation impacting DDHD1 (DDHD domain containing 1) on chromosome 14 at position 53055920: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAGCTTAAAGATCCATATAATGCTAAGTCCAACATAACTATCCATTTATTTACTCATTTTTTCAATATCTGCTTTACACTAGGTAGCTGGGATAGAATTGGAAGCCATTCAGCAGATCCAATAAAATTTCTAAGCTTTGAATAGAAGTAGGATGACTTTGGTATAGCAGTTTTTAAAGTCTCAAGACCAGATACAGCATAGATCTAAAGCAATAATTACACGATTTTTGAGACTGAGAAGATCACATTAGTAAAAATCTACTTTATAAACTTCAGGGGGTACTTACCCTAAAGAGATTTGTTTTATGCTTGATGGTTAAG... | AAGCTTAAAGATCCATATAATGCTAAGTCCAACATAACTATCCATTTATTTACTCATTTTTTCAATATCTGCTTTACACTAGGTAGCTGGGATAGAATTGGAAGCCATTCAGCAGATCCAATAAAATTTCTAAGCTTTGAATAGAAGTAGGATGACTTTGGTATAGCAGTTTTTAAAGTCTCAAGACCAGATACAGCATAGATCTAAAGCAATAATTACACGATTTTTGAGACTGAGAAGATCACATTAGTAAAAATCTACTTTATAAACTTCAGGGGGTACTTACCCTAAAGAGATTTGTTTTATGCTTGATGGTTAAG... | benign | 221,497 |
Is the genetic mutation found on chromosome 14 at position 53062954, within the gene DDHD1 (DDHD domain containing 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_28'] | CAATAATACTGTGCCATATAACCTGAGGACTGGGGAACTGACTTGTCTATTCTTTTCTTTGTACAACCAGAAATGGCAGTGTCCAACATATAGTATATGTTGAATAAATATTTATTTTGAAAGAACAATAAACTTTCATTTGAATCCTAAAGGCATATTTCACATGACGTTAAAAAAAATACTGAGATCAATGTTGAAGAACACATTGCTCTTTCCTTACCTTAAATTTTAAGGCAGGTGTTTGTGTCATAGATGATGCTTTCAATCCGTGAAGCCGTTCTTCTATTTCCTTCAGCCTAAGAAGGGGTATGAGATTATAT... | CAATAATACTGTGCCATATAACCTGAGGACTGGGGAACTGACTTGTCTATTCTTTTCTTTGTACAACCAGAAATGGCAGTGTCCAACATATAGTATATGTTGAATAAATATTTATTTTGAAAGAACAATAAACTTTCATTTGAATCCTAAAGGCATATTTCACATGACGTTAAAAAAAATACTGAGATCAATGTTGAAGAACACATTGCTCTTTCCTTACCTTAAATTTTAAGGCAGGTGTTTGTGTCATAGATGATGCTTTCAATCCGTGAAGCCGTTCTTCTATTTCCTTCAGCCTAAGAAGGGGTATGAGATTATAT... | pathogenic | 221,510 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 53072707, gene DDHD1 (DDHD domain containing 1). What disease(s) is it linked to if pathogenic? | benign | AAATGAAAATGTGTCAAAATGTGCTCAGAAAATATTTGGCAAATTAAATTTATAAGTTAATACATACAAAATAAACCTGTTAACTCTGAAATGCTTTACATGTCTATTATAAAAATAGTTACAGGTTATGAAACCTTAAGAAATCTGAGATCTTTGTACAGAAAACATATACACTGAATCCATTCCATACTTAGTTTTTCAAAGCTTAGTTAGGAATATTTTTAGATTAAAAACACTGATGAAAGAAAGCTCCCAGAGAAAACATCGAACCCTTCTTTCTCTTATGAAAGCAGAGGGATCTACAGGCAGCAACACATCTG... | AAATGAAAATGTGTCAAAATGTGCTCAGAAAATATTTGGCAAATTAAATTTATAAGTTAATACATACAAAATAAACCTGTTAACTCTGAAATGCTTTACATGTCTATTATAAAAATAGTTACAGGTTATGAAACCTTAAGAAATCTGAGATCTTTGTACAGAAAACATATACACTGAATCCATTCCATACTTAGTTTTTCAAAGCTTAGTTAGGAATATTTTTAGATTAAAAACACTGATGAAAGAAAGCTCCCAGAGAAAACATCGAACCCTTCTTTCTCTTATGAAAGCAGAGGGATCTACAGGCAGCAACACATCTG... | benign | 221,513 |
Is chromosome 14, position 53152703, gene DDHD1 (DDHD domain containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_spastic_paraplegia_28'] | ACTTTCTGACTCCACTAAGTCTTGGTACTTCTATCTTCAGGAAAAAAAATCTATGATTATGTTTAAGTCATTTGAAGGAAACACCGAGTGGGAAGCTCTGAAAGGGTAAGGATTTTCCTTTTCCCCATCTTTCTTAATGCCTTCACAAGAGTACCGTTATGCACATATAAATATTCTGAATATGAAAGAACTGAATGAATATAAACATACCCTGCCTTTAGTGAGTATATAATCTAAAAAAGTGAATGATGTAACAGATCTCACTAAATCTGACCTTATAAAAATGGTAATGAATGCCTTTAGTATCATCTTAATGTGCA... | ACTTTCTGACTCCACTAAGTCTTGGTACTTCTATCTTCAGGAAAAAAAATCTATGATTATGTTTAAGTCATTTGAAGGAAACACCGAGTGGGAAGCTCTGAAAGGGTAAGGATTTTCCTTTTCCCCATCTTTCTTAATGCCTTCACAAGAGTACCGTTATGCACATATAAATATTCTGAATATGAAAGAACTGAATGAATATAAACATACCCTGCCTTTAGTGAGTATATAATCTAAAAAAGTGAATGATGTAACAGATCTCACTAAATCTGACCTTATAAAAATGGTAATGAATGCCTTTAGTATCATCTTAATGTGCA... | pathogenic | 221,529 |
Evaluate if the mutation on chromosome 14 at position 53152762 in DDHD1 (DDHD domain containing 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGTTTAAGTCATTTGAAGGAAACACCGAGTGGGAAGCTCTGAAAGGGTAAGGATTTTCCTTTTCCCCATCTTTCTTAATGCCTTCACAAGAGTACCGTTATGCACATATAAATATTCTGAATATGAAAGAACTGAATGAATATAAACATACCCTGCCTTTAGTGAGTATATAATCTAAAAAAGTGAATGATGTAACAGATCTCACTAAATCTGACCTTATAAAAATGGTAATGAATGCCTTTAGTATCATCTTAATGTGCAGTAAGAAATTAAATTTCCTGCTATTATTTTATTTGGTGATTTGACACATGTTGGAATTG... | TGTTTAAGTCATTTGAAGGAAACACCGAGTGGGAAGCTCTGAAAGGGTAAGGATTTTCCTTTTCCCCATCTTTCTTAATGCCTTCACAAGAGTACCGTTATGCACATATAAATATTCTGAATATGAAAGAACTGAATGAATATAAACATACCCTGCCTTTAGTGAGTATATAATCTAAAAAAGTGAATGATGTAACAGATCTCACTAAATCTGACCTTATAAAAATGGTAATGAATGCCTTTAGTATCATCTTAATGTGCAGTAAGAAATTAAATTTCCTGCTATTATTTTATTTGGTGATTTGACACATGTTGGAATTG... | benign | 221,531 |
Regarding the variant found on chromosome 14 at position 53152762 in gene DDHD1 (DDHD domain containing 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGTTTAAGTCATTTGAAGGAAACACCGAGTGGGAAGCTCTGAAAGGGTAAGGATTTTCCTTTTCCCCATCTTTCTTAATGCCTTCACAAGAGTACCGTTATGCACATATAAATATTCTGAATATGAAAGAACTGAATGAATATAAACATACCCTGCCTTTAGTGAGTATATAATCTAAAAAAGTGAATGATGTAACAGATCTCACTAAATCTGACCTTATAAAAATGGTAATGAATGCCTTTAGTATCATCTTAATGTGCAGTAAGAAATTAAATTTCCTGCTATTATTTTATTTGGTGATTTGACACATGTTGGAATTG... | TGTTTAAGTCATTTGAAGGAAACACCGAGTGGGAAGCTCTGAAAGGGTAAGGATTTTCCTTTTCCCCATCTTTCTTAATGCCTTCACAAGAGTACCGTTATGCACATATAAATATTCTGAATATGAAAGAACTGAATGAATATAAACATACCCTGCCTTTAGTGAGTATATAATCTAAAAAAGTGAATGATGTAACAGATCTCACTAAATCTGACCTTATAAAAATGGTAATGAATGCCTTTAGTATCATCTTAATGTGCAGTAAGAAATTAAATTTCCTGCTATTATTTTATTTGGTGATTTGACACATGTTGGAATTG... | benign | 221,532 |
Regarding the variant found on chromosome 14 at position 53152762 in gene DDHD1 (DDHD domain containing 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGTTTAAGTCATTTGAAGGAAACACCGAGTGGGAAGCTCTGAAAGGGTAAGGATTTTCCTTTTCCCCATCTTTCTTAATGCCTTCACAAGAGTACCGTTATGCACATATAAATATTCTGAATATGAAAGAACTGAATGAATATAAACATACCCTGCCTTTAGTGAGTATATAATCTAAAAAAGTGAATGATGTAACAGATCTCACTAAATCTGACCTTATAAAAATGGTAATGAATGCCTTTAGTATCATCTTAATGTGCAGTAAGAAATTAAATTTCCTGCTATTATTTTATTTGGTGATTTGACACATGTTGGAATTG... | TGTTTAAGTCATTTGAAGGAAACACCGAGTGGGAAGCTCTGAAAGGGTAAGGATTTTCCTTTTCCCCATCTTTCTTAATGCCTTCACAAGAGTACCGTTATGCACATATAAATATTCTGAATATGAAAGAACTGAATGAATATAAACATACCCTGCCTTTAGTGAGTATATAATCTAAAAAAGTGAATGATGTAACAGATCTCACTAAATCTGACCTTATAAAAATGGTAATGAATGCCTTTAGTATCATCTTAATGTGCAGTAAGAAATTAAATTTCCTGCTATTATTTTATTTGGTGATTTGACACATGTTGGAATTG... | benign | 221,533 |
Gene GCH1 (GTP cyclohydrolase 1) variant at chromosome 14, position 54842960—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGCAATAATCTGGTCAGATGGGTATAGAGGAAAACAAGATGGCGCCATTGAGTTGAGACTTCTTGAAGCTGGGTGATTAGTACACAGGGGTTCATGTGCTCATCTCTCTACTGATGTGCATGTTTCATTTTCTGTAACAAAAATTAAAAGAAGGCAAGGGCCTCTGGGAGGGTGAGGAGTCAGGTACTCACACTTCCCCTTGATCTCTTGAGACTTCTTCTTCTCTCCATCAGCAGGAGGACCCATGCCTGTGATGATGAATCCAGGTGCTCTGTTTTGACAGAAAGGCTTCTTGAAAACCTTTCATGTCTGCAACTGCT... | TGCAATAATCTGGTCAGATGGGTATAGAGGAAAACAAGATGGCGCCATTGAGTTGAGACTTCTTGAAGCTGGGTGATTAGTACACAGGGGTTCATGTGCTCATCTCTCTACTGATGTGCATGTTTCATTTTCTGTAACAAAAATTAAAAGAAGGCAAGGGCCTCTGGGAGGGTGAGGAGTCAGGTACTCACACTTCCCCTTGATCTCTTGAGACTTCTTCTTCTCTCCATCAGCAGGAGGACCCATGCCTGTGATGATGAATCCAGGTGCTCTGTTTTGACAGAAAGGCTTCTTGAAAACCTTTCATGTCTGCAACTGCT... | benign | 221,568 |
Evaluate if the mutation on chromosome 14 at position 54843122 in GCH1 (GTP cyclohydrolase 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TCTGGGAGGGTGAGGAGTCAGGTACTCACACTTCCCCTTGATCTCTTGAGACTTCTTCTTCTCTCCATCAGCAGGAGGACCCATGCCTGTGATGATGAATCCAGGTGCTCTGTTTTGACAGAAAGGCTTCTTGAAAACCTTTCATGTCTGCAACTGCTCTTCCACTAAGTGAAAAGGAACTTGGCCAATCAATCTTCGGTGACAAAACTCAGAAGCAGCAACTCGGGCTTAGCTGAGCAGCTCATCGTTTTATTGACACCTATGAGTGGTGGTTCTAGGAATGTTTTATGCCAGTAAGCATTCCTACTTTGATAAGATTT... | TCTGGGAGGGTGAGGAGTCAGGTACTCACACTTCCCCTTGATCTCTTGAGACTTCTTCTTCTCTCCATCAGCAGGAGGACCCATGCCTGTGATGATGAATCCAGGTGCTCTGTTTTGACAGAAAGGCTTCTTGAAAACCTTTCATGTCTGCAACTGCTCTTCCACTAAGTGAAAAGGAACTTGGCCAATCAATCTTCGGTGACAAAACTCAGAAGCAGCAACTCGGGCTTAGCTGAGCAGCTCATCGTTTTATTGACACCTATGAGTGGTGGTTCTAGGAATGTTTTATGCCAGTAAGCATTCCTACTTTGATAAGATTT... | benign | 221,569 |
Variant in GCH1 (GTP cyclohydrolase 1), chromosome 14, position 54844137—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Dystonia_5', 'GTP_cyclohydrolase_I_deficiency', 'Inborn_genetic_diseases'] | AATTTAATTTTGAACAGTGTATTGAAATACATCAAATTCTTAAAAATCCCCCAAATGGACTCAAGATCATGGATATGAAAAGGTAATTTTGAAGTACTAAAGACTAGAGTAAAACAGACAAAGTCATTACTTTGCATTTACTAATAAGACAACAGCCTGTGGATACATTAGACCTTTATAAGAACACTTCTAGGAAATGTTAGAACAACGAGTCATTAAAAAGGAATATAAATGAGTTCATAAAGATAAATGTATAGCTGACAATTTCTTTGGTCCTCGAAGTCACACTTGTTTTTACTTTAAAATGCCAAACATGAGTT... | AATTTAATTTTGAACAGTGTATTGAAATACATCAAATTCTTAAAAATCCCCCAAATGGACTCAAGATCATGGATATGAAAAGGTAATTTTGAAGTACTAAAGACTAGAGTAAAACAGACAAAGTCATTACTTTGCATTTACTAATAAGACAACAGCCTGTGGATACATTAGACCTTTATAAGAACACTTCTAGGAAATGTTAGAACAACGAGTCATTAAAAAGGAATATAAATGAGTTCATAAAGATAAATGTATAGCTGACAATTTCTTTGGTCCTCGAAGTCACACTTGTTTTTACTTTAAAATGCCAAACATGAGTT... | pathogenic | 221,575 |
For chromosome 14, position 54845765, gene GCH1 (GTP cyclohydrolase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Dystonia_5', 'GTP_cyclohydrolase_I_deficiency'] | CACTAATTCTTCTCCCTTCCCAGGCCCCTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCA... | CACTAATTCTTCTCCCTTCCCAGGCCCCTCTGGTTATCTGGCAGTGGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCA... | pathogenic | 221,576 |
The mutation impacting GCH1 (GTP cyclohydrolase 1) on chromosome 14 at position 54845810: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dystonia_5', 'GTP_cyclohydrolase_I_deficiency'] | GGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAACACACCCAACA... | GGTTTTGTGCACGTACTTACACTATTAGCAGTTCACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAACACACCCAACA... | pathogenic | 221,582 |
Classify the chromosome 14 variant at position 54902415 affecting gene GCH1 (GTP cyclohydrolase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Dystonia_5', 'GTP_cyclohydrolase_I_deficiency'] | ACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCAAGTAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAAT... | ACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCAAGTAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAAT... | pathogenic | 221,595 |
Located at chromosome 14 position 56801394, the variant affecting gene OTX2 (orthodenticle homeobox 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GGAATTCATTTCTACTTCGCCTTTGATTCAAAGGGATTTAACTGCGTGGTCTTAGTTAAGAGAAGTTGTGCAGAGGTGATGGAAAAATTAGTTTCAGAGGGTGCTCAGTGCCTCTTCTTTCTGACCTTTTTTTTAAAGTTTCAGGAGAGAAACTGCCAACTGCGTTATTTGCTGAGTAGCCCAATGTTTATCGTCATTATTGTTTTTAAAGAAGGGGTAATCTTTCCCTGCCCCTTGCGGGACATCCTGAAAACTGAAGGCAATGGTAGAAAATGGTTATTTTGATTCTGCATTACTGTTGCAGAAGAAAAGCTGGGAGA... | GGAATTCATTTCTACTTCGCCTTTGATTCAAAGGGATTTAACTGCGTGGTCTTAGTTAAGAGAAGTTGTGCAGAGGTGATGGAAAAATTAGTTTCAGAGGGTGCTCAGTGCCTCTTCTTTCTGACCTTTTTTTTAAAGTTTCAGGAGAGAAACTGCCAACTGCGTTATTTGCTGAGTAGCCCAATGTTTATCGTCATTATTGTTTTTAAAGAAGGGGTAATCTTTCCCTGCCCCTTGCGGGACATCCTGAAAACTGAAGGCAATGGTAGAAAATGGTTATTTTGATTCTGCATTACTGTTGCAGAAGAAAAGCTGGGAGA... | benign | 221,642 |
The genetic variant at chromosome 14, position 56802202, affecting gene OTX2 (orthodenticle homeobox 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Anophthalmia-microphthalmia_syndrome', 'Syndromic_microphthalmia_type_5'] | ATGTTCAACTACTGAAATTATAGGTTTTAAAACTTTTCTGAAACTCTTTTGTTCAGGAATCATTTCTGCCTGAATTACTTTCAGATTCTGATTACACTCCCTCTCATGTTTACCTCAGTTTTTGGAAGTTAAAAAAAAAAAATCCCCTTAATCAAATAAGAGAATAGTAACAAGAAATTCTTGTCATTCTCATGTTTTCAGAGATACTCCAATTCTCCTCCTCCCTCTTAAAAACTTGATATATTTTAAAACATTCTAATAAAGTGCCTAAGAAATCGTTCAGGTTTGAAGTAGGGAGGGAAAAGCAAGGAAAACAAGAT... | ATGTTCAACTACTGAAATTATAGGTTTTAAAACTTTTCTGAAACTCTTTTGTTCAGGAATCATTTCTGCCTGAATTACTTTCAGATTCTGATTACACTCCCTCTCATGTTTACCTCAGTTTTTGGAAGTTAAAAAAAAAAAATCCCCTTAATCAAATAAGAGAATAGTAACAAGAAATTCTTGTCATTCTCATGTTTTCAGAGATACTCCAATTCTCCTCCTCCCTCTTAAAAACTTGATATATTTTAAAACATTCTAATAAAGTGCCTAAGAAATCGTTCAGGTTTGAAGTAGGGAGGGAAAAGCAAGGAAAACAAGAT... | pathogenic | 221,648 |
Evaluate this variant at chromosome 14, position 58428294, gene KIAA0586 (KIAA0586): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Inborn_genetic_diseases', 'Joubert_syndrome_23', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | CTCAGGCTGGAGCACAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTGCCGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGTTAATTTTTTGTATTTTCAGTAGAGGCGGGGTTTCACCTTGCTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCAGACTTTAAAGTCCATTTTAAGTCTAGACTTCTATGAAGGTAGACTGCCGAGATGTAAAAGAAAT... | CTCAGGCTGGAGCACAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTGCCGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGTTAATTTTTTGTATTTTCAGTAGAGGCGGGGTTTCACCTTGCTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCAGACTTTAAAGTCCATTTTAAGTCTAGACTTCTATGAAGGTAGACTGCCGAGATGTAAAAGAAAT... | pathogenic | 221,665 |
The mutation impacting KIAA0586 (KIAA0586) on chromosome 14 at position 58428357: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Joubert_syndrome_23', 'Joubert_syndrome_and_related_disorders', 'KIAA0586-related_disorder', 'Neurodevelopmental_disorder', 'Retinal_dystrophy', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | AATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGTTAATTTTTTGTATTTTCAGTAGAGGCGGGGTTTCACCTTGCTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCAGACTTTAAAGTCCATTTTAAGTCTAGACTTCTATGAAGGTAGACTGCCGAGATGTAAAAGAAATAAAATTAGTTATTTAGCTTTTAGATCGGATTACATTTTCTGCTTTGATTATTCTAAAGCCTCC... | AATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGTTAATTTTTTGTATTTTCAGTAGAGGCGGGGTTTCACCTTGCTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCAGACTTTAAAGTCCATTTTAAGTCTAGACTTCTATGAAGGTAGACTGCCGAGATGTAAAAGAAATAAAATTAGTTATTTAGCTTTTAGATCGGATTACATTTTCTGCTTTGATTATTCTAAAGCCTCC... | pathogenic | 221,667 |
Regarding the variant found on chromosome 14 at position 58428414 in gene KIAA0586 (KIAA0586): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Joubert_syndrome_23'] | CAGTTAATTTTTTGTATTTTCAGTAGAGGCGGGGTTTCACCTTGCTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCAGACTTTAAAGTCCATTTTAAGTCTAGACTTCTATGAAGGTAGACTGCCGAGATGTAAAAGAAATAAAATTAGTTATTTAGCTTTTAGATCGGATTACATTTTCTGCTTTGATTATTCTAAAGCCTCCAGTAAGGCGTAAAGGGAAAGCTCTAAGTAGCGCATCCTGGGAAATGAGCAGATCAGG... | CAGTTAATTTTTTGTATTTTCAGTAGAGGCGGGGTTTCACCTTGCTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCAGACTTTAAAGTCCATTTTAAGTCTAGACTTCTATGAAGGTAGACTGCCGAGATGTAAAAGAAATAAAATTAGTTATTTAGCTTTTAGATCGGATTACATTTTCTGCTTTGATTATTCTAAAGCCTCCAGTAAGGCGTAAAGGGAAAGCTCTAAGTAGCGCATCCTGGGAAATGAGCAGATCAGG... | pathogenic | 221,669 |
Regarding the variant at chromosome 14 and position 58432438, affecting gene KIAA0586 (KIAA0586): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_cerebellar_hypoplasia', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Joubert_syndrome_23', 'Joubert_syndrome_and_related_disorders', 'KIAA0586-_Related_disorders', 'KIAA0586-related_disorder', 'Retinal_dystrophy', 'Rod-cone_dystrophy', 'Short-rib_thor... | CTGAATCTCAGTGCTACATTTGCTTGCTGGTTCATTTACTCATTCATTCACTTGTCTGATAGTGTATTACTCACCCATTCAACAAATCTTTGAGTAGCTTTAAGGTACATCAGAATTGCATGATGATGGAAATGAAGAATATGAAATACACAGTCCTGCCCTCCCAGAACACAGTAGTCACATAGCTAGTAAACGGTTCTTGATAAATAATAAATCATGAAGTTTATTTAGCCTATTTCTTCCTTTCATATCCCAAAGGATTTTTCTAAAGACGTTGCAGTGCAAGTGTTGCCTTTGGATAAAATAGAAGAGAACAACAA... | CTGAATCTCAGTGCTACATTTGCTTGCTGGTTCATTTACTCATTCATTCACTTGTCTGATAGTGTATTACTCACCCATTCAACAAATCTTTGAGTAGCTTTAAGGTACATCAGAATTGCATGATGATGGAAATGAAGAATATGAAATACACAGTCCTGCCCTCCCAGAACACAGTAGTCACATAGCTAGTAAACGGTTCTTGATAAATAATAAATCATGAAGTTTATTTAGCCTATTTCTTCCTTTCATATCCCAAAGGATTTTTCTAAAGACGTTGCAGTGCAAGTGTTGCCTTTGGATAAAATAGAAGAGAACAACAA... | pathogenic | 221,672 |
The genetic variant at chromosome 14, position 58444071, affecting gene KIAA0586 (KIAA0586): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Congenital_cerebellar_hypoplasia', 'Intellectual_disability', 'Joubert_syndrome_23', 'Neurodevelopmental_disorder', 'Rod-cone_dystrophy', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | AGTGTTTCTTGGGTTGTCTGCCTTTAGGAGTAAAGCTTGGTACTTTAATTCTTGGAGCTTTTTCTGAGTAGTTTTTTTTGTTTGTTTGTTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCTGGCTCACTGCAACCTTCGCCTCCTGGGTTCTAGTAATTCTCCTGCCTCAGCCTCCTGAGTGGCTAGGACTACAGGCGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCACGTTAGCCAGGCTGGCCTCTAACTCCTGACCT... | AGTGTTTCTTGGGTTGTCTGCCTTTAGGAGTAAAGCTTGGTACTTTAATTCTTGGAGCTTTTTCTGAGTAGTTTTTTTTGTTTGTTTGTTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCTGGCTCACTGCAACCTTCGCCTCCTGGGTTCTAGTAATTCTCCTGCCTCAGCCTCCTGAGTGGCTAGGACTACAGGCGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCACGTTAGCCAGGCTGGCCTCTAACTCCTGACCT... | pathogenic | 221,679 |
Variant at chromosome position 58444155, chromosome 14, gene KIAA0586 (KIAA0586): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Joubert_syndrome_23', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | TTTGTTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCTGGCTCACTGCAACCTTCGCCTCCTGGGTTCTAGTAATTCTCCTGCCTCAGCCTCCTGAGTGGCTAGGACTACAGGCGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCACGTTAGCCAGGCTGGCCTCTAACTCCTGACCTGGTGATCCACCTGCCTTGGCCTCCCAAATTGGGATTACAGGCATAATCCCACCGTGCCACCTTGTGAGTGTTTTAAATTTGTAC... | TTTGTTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCTGGCTCACTGCAACCTTCGCCTCCTGGGTTCTAGTAATTCTCCTGCCTCAGCCTCCTGAGTGGCTAGGACTACAGGCGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCACGTTAGCCAGGCTGGCCTCTAACTCCTGACCTGGTGATCCACCTGCCTTGGCCTCCCAAATTGGGATTACAGGCATAATCCCACCGTGCCACCTTGTGAGTGTTTTAAATTTGTAC... | pathogenic | 221,681 |
Benign or pathogenic: chromosome 14, position 58450756, gene KIAA0586 (KIAA0586) variant? Disease(s) if pathogenic? | benign | TTTGCGTCAAGTAATTTTTAGTTTATTTTGAAATTTTTTAAATTATGGATTATGTTCTTAACTGATTTTAATTAATCTCATAAATTATCAGAAGCACTTATAAATTTAGAAAAAATTTACTTATTTACTACAAAAATGCTTGTAAATAAATCAGTTCTCCTGTTCTCTGACAAACTGCATATTTGCTCTTTCTTGATTCTGTCAGAGCAACTACCTGAGTACATTTTTAAACCATTTCTAAATATTTTCAGAATTAGTAATGCAAGTCTGCTTATCTTGATTGAATTTTAAAACTCTATAATAACAAAGGAATACATGGC... | TTTGCGTCAAGTAATTTTTAGTTTATTTTGAAATTTTTTAAATTATGGATTATGTTCTTAACTGATTTTAATTAATCTCATAAATTATCAGAAGCACTTATAAATTTAGAAAAAATTTACTTATTTACTACAAAAATGCTTGTAAATAAATCAGTTCTCCTGTTCTCTGACAAACTGCATATTTGCTCTTTCTTGATTCTGTCAGAGCAACTACCTGAGTACATTTTTAAACCATTTCTAAATATTTTCAGAATTAGTAATGCAAGTCTGCTTATCTTGATTGAATTTTAAAACTCTATAATAACAAAGGAATACATGGC... | benign | 221,689 |
Variant on chromosome 14, at position 58470673, affecting KIAA0586 (KIAA0586): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Joubert_syndrome_23', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | ACAAACATCTACCCTTCGGCCTGGGATCCAGCTGTAGAAGCTGAGGTCTTCACTAGGTCTGGACAAAGGTGAACATGAGTATTTACATGCGACTTTCTATTGACCAGTCAGGAGGCAACTGTAGGAAAGCATTCATGAACTGTGGTAAACTTTTTGGCTGATTTACTCCAACTCCTGTATTCGTCTTACCATCCTTGCTTACTTACAAATAATTAGAACACTCCAGTCCTTAGACTGCTCCAAGGTTCCTCTTTTGATTGAGCCAGGACAAATGAGTTTTCTTGGGCAACTTAGTATGCCCTCTGGGAAGAGAGAAGACT... | ACAAACATCTACCCTTCGGCCTGGGATCCAGCTGTAGAAGCTGAGGTCTTCACTAGGTCTGGACAAAGGTGAACATGAGTATTTACATGCGACTTTCTATTGACCAGTCAGGAGGCAACTGTAGGAAAGCATTCATGAACTGTGGTAAACTTTTTGGCTGATTTACTCCAACTCCTGTATTCGTCTTACCATCCTTGCTTACTTACAAATAATTAGAACACTCCAGTCCTTAGACTGCTCCAAGGTTCCTCTTTTGATTGAGCCAGGACAAATGAGTTTTCTTGGGCAACTTAGTATGCCCTCTGGGAAGAGAGAAGACT... | pathogenic | 221,712 |
Gene KIAA0586 (KIAA0586) variant at chromosome position 58477151 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_23'] | TATGGTTTGCTGCTAGGCCAGGGCCACGAACCAGTACCAGTCTGTGGCCTGTTAGGAACCAGGGAACTAAGCTGCACAGCAGGAGGTGAGCAGCGGGTGAGTGAGCATTACTGCCTGAGCTCCACCTCCTGTCAGATCAGCTGTGGCATTAGATTTCATAGAAGCACAAACCCTATTGTAAACTGTGCATGTGAGGGATCTAGGTTGCACGCTCCCTATGAGAATCTAATGCTTGATGATCTGAGGTGAAACAGTTTCCTCCCGAATCTATCCCCCCACCCCCTACCCCACCACCCCTGCCCTGGTCTGTGGAAAAATTG... | TATGGTTTGCTGCTAGGCCAGGGCCACGAACCAGTACCAGTCTGTGGCCTGTTAGGAACCAGGGAACTAAGCTGCACAGCAGGAGGTGAGCAGCGGGTGAGTGAGCATTACTGCCTGAGCTCCACCTCCTGTCAGATCAGCTGTGGCATTAGATTTCATAGAAGCACAAACCCTATTGTAAACTGTGCATGTGAGGGATCTAGGTTGCACGCTCCCTATGAGAATCTAATGCTTGATGATCTGAGGTGAAACAGTTTCCTCCCGAATCTATCCCCCCACCCCCTACCCCACCACCCCTGCCCTGGTCTGTGGAAAAATTG... | pathogenic | 221,719 |
Is the chromosome 14, position 58482664 variant in KIAA0586 (KIAA0586) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Joubert_syndrome_23', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | GAGATCACAGTTCTCCCAGCACCCAATCTCTAAAGCCTTGGAGTTATTATTTGTTCTATTTTCTTTGCTTTGCTCTTCTTCATTCCCCACTCAGCCATACCCTATATCCCAGCTTCATAGAGTTTATTGTTGCATTTGGCTAATTTGTCCTATTTAGCATAGCTCACATGCCTCCTTCTGTTGTTACTATCCCAGTTTTCTCTCGTCATCTCATCTTTGAAGGGAGGACAAAAATAAACAACAAATTTATGAGAAAATTTTTTTCCTGGTGAAAATCTGACATTTTACAAATTGGGTATTTAGATCCTGTTTTCTTCCCT... | GAGATCACAGTTCTCCCAGCACCCAATCTCTAAAGCCTTGGAGTTATTATTTGTTCTATTTTCTTTGCTTTGCTCTTCTTCATTCCCCACTCAGCCATACCCTATATCCCAGCTTCATAGAGTTTATTGTTGCATTTGGCTAATTTGTCCTATTTAGCATAGCTCACATGCCTCCTTCTGTTGTTACTATCCCAGTTTTCTCTCGTCATCTCATCTTTGAAGGGAGGACAAAAATAAACAACAAATTTATGAGAAAATTTTTTTCCTGGTGAAAATCTGACATTTTACAAATTGGGTATTTAGATCCTGTTTTCTTCCCT... | pathogenic | 221,721 |
Evaluate if the mutation on chromosome 14 at position 58482707 in KIAA0586 (KIAA0586) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Joubert_syndrome_23', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | TTATTATTTGTTCTATTTTCTTTGCTTTGCTCTTCTTCATTCCCCACTCAGCCATACCCTATATCCCAGCTTCATAGAGTTTATTGTTGCATTTGGCTAATTTGTCCTATTTAGCATAGCTCACATGCCTCCTTCTGTTGTTACTATCCCAGTTTTCTCTCGTCATCTCATCTTTGAAGGGAGGACAAAAATAAACAACAAATTTATGAGAAAATTTTTTTCCTGGTGAAAATCTGACATTTTACAAATTGGGTATTTAGATCCTGTTTTCTTCCCTGTCAAAGATTTGTGTTTGCTTTTGTTTTGCCAGTGTCTGGGTA... | TTATTATTTGTTCTATTTTCTTTGCTTTGCTCTTCTTCATTCCCCACTCAGCCATACCCTATATCCCAGCTTCATAGAGTTTATTGTTGCATTTGGCTAATTTGTCCTATTTAGCATAGCTCACATGCCTCCTTCTGTTGTTACTATCCCAGTTTTCTCTCGTCATCTCATCTTTGAAGGGAGGACAAAAATAAACAACAAATTTATGAGAAAATTTTTTTCCTGGTGAAAATCTGACATTTTACAAATTGGGTATTTAGATCCTGTTTTCTTCCCTGTCAAAGATTTGTGTTTGCTTTTGTTTTGCCAGTGTCTGGGTA... | pathogenic | 221,723 |
Considering the genetic mutation at chromosome 14, position 58487870, impacting KIAA0586 (KIAA0586): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATACTCAGTTTGTGTGTGTGTGCAAAAAGGCTGATTTTTTGGTATGTTGTCAATCACTTAAAATGCTTCCTTTCTGTTCTATGCCTTTCCTTCATGTCTGTAACTGGGTTTGATCATCAGCTTTATCTATTTAATCTTTCAGTCTTCTTTATTTTTAAAATTTCAGCTTTTATTTAGGTATAGGGGGTACATGTGTGGGATTGTTATATGGATATACTGGACCCAGGTAGTAAGTGTAGTACCCAAAAGTAGTTTTTCAACTCATTCCCCTTTCTTCCCTCCTGCCCCCTGCCATCATAGTCCACAGTGTCTGTTTTTCT... | ATACTCAGTTTGTGTGTGTGTGCAAAAAGGCTGATTTTTTGGTATGTTGTCAATCACTTAAAATGCTTCCTTTCTGTTCTATGCCTTTCCTTCATGTCTGTAACTGGGTTTGATCATCAGCTTTATCTATTTAATCTTTCAGTCTTCTTTATTTTTAAAATTTCAGCTTTTATTTAGGTATAGGGGGTACATGTGTGGGATTGTTATATGGATATACTGGACCCAGGTAGTAAGTGTAGTACCCAAAAGTAGTTTTTCAACTCATTCCCCTTTCTTCCCTCCTGCCCCCTGCCATCATAGTCCACAGTGTCTGTTTTTCT... | benign | 221,729 |
Does the variant impacting KIAA0586 (KIAA0586) on chromosome 14, position 58490174, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Joubert_syndrome_23', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | TCACTAGTAACTGTACATTTCAACTTATGTTTGACTTATGTGATCCATTGAAAACATAGAAATATTATACAAAGCTTTATAAACCACAGACTACCTTATACTTTGAAAGAAAGAACTTTCATAAGTGTTGAGTTTTGAAAAATTATCAAATTATACCTTCACCTTTTTTCTTAAAAGGTTTGAAATAGCTAGAAATAAAGGTATCTATTATATTGTTAATAAAATAGAAAACAATTTCTCCCTATTGTGGATCATTATTTACTATGATCAGTTAACTTTTATATTATTTTATATCTCTCTGTATGGAAGAGCTTTCAAGA... | TCACTAGTAACTGTACATTTCAACTTATGTTTGACTTATGTGATCCATTGAAAACATAGAAATATTATACAAAGCTTTATAAACCACAGACTACCTTATACTTTGAAAGAAAGAACTTTCATAAGTGTTGAGTTTTGAAAAATTATCAAATTATACCTTCACCTTTTTTCTTAAAAGGTTTGAAATAGCTAGAAATAAAGGTATCTATTATATTGTTAATAAAATAGAAAACAATTTCTCCCTATTGTGGATCATTATTTACTATGATCAGTTAACTTTTATATTATTTTATATCTCTCTGTATGGAAGAGCTTTCAAGA... | pathogenic | 221,735 |
Gene KIAA0586 (KIAA0586) variant at chromosome 14, position 58498866—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Joubert_syndrome_23', 'Short-rib_thoracic_dysplasia_14_with_polydactyly'] | TTTGCTTCAGTTCTTAATTAGTAAATTCATTAATTAGAATATCTCAAGTCATAAAATGTACTAGTGATTAGGATATATAATTTTTTAATACAGAAAGAAAATAGGAGTCTTATATTTTTTCATTTGTTCATTTATTTCATAGATTTCATTTAAAACAATTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTTTTGTTGCCCAGGCAGGAATGCAGTGGCGGGATCTCGGCTCACCACAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCTTCAGCCTCTCGAGTAGCTGGGGTTACAGGCATGCACTACCATGCCCGC... | TTTGCTTCAGTTCTTAATTAGTAAATTCATTAATTAGAATATCTCAAGTCATAAAATGTACTAGTGATTAGGATATATAATTTTTTAATACAGAAAGAAAATAGGAGTCTTATATTTTTTCATTTGTTCATTTATTTCATAGATTTCATTTAAAACAATTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTTTTGTTGCCCAGGCAGGAATGCAGTGGCGGGATCTCGGCTCACCACAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCTTCAGCCTCTCGAGTAGCTGGGGTTACAGGCATGCACTACCATGCCCGC... | pathogenic | 221,740 |
Does the variant impacting SIX6 on chromosome 14, position 60509929, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colobomatous_optic_disc-macular_atrophy-chorioretinopathy_syndrome'] | CTACCAGTTATTTTCTTCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAG... | CTACCAGTTATTTTCTTCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAG... | pathogenic | 221,784 |
Does the genetic variant at chromosome 14, position 60646017, impacting gene SIX1 (SIX homeobox 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGCAGGAAGTGGGCCGGGGCGCCCTGCGAGACACAACTTCCACGAGCCTAAAATTATCCCAGGCGGAGCTGGGAGAGTGGAGGGTAGTCACCGGAGTAGGAAGAGACGGCATGTAAGAAATTAAAGTAATTGGCCCTTCCTATTTTCCAGAGAGATTTCCGCAGCGTCCTTTGAAGCCTGTCAGGGTCATTGAAAGCTATCTTTGTGCAGGGTGTTTGTTTTGGGGAGTGAATGTGAAGAATGTGAGGAGATTCCCTGTGAGAGCCCCTCCTGCAGAGGGTGGCATTTCTCCGTGGCCCAAGACAGGGAGAATAAACACC... | AGCAGGAAGTGGGCCGGGGCGCCCTGCGAGACACAACTTCCACGAGCCTAAAATTATCCCAGGCGGAGCTGGGAGAGTGGAGGGTAGTCACCGGAGTAGGAAGAGACGGCATGTAAGAAATTAAAGTAATTGGCCCTTCCTATTTTCCAGAGAGATTTCCGCAGCGTCCTTTGAAGCCTGTCAGGGTCATTGAAAGCTATCTTTGTGCAGGGTGTTTGTTTTGGGGAGTGAATGTGAAGAATGTGAGGAGATTCCCTGTGAGAGCCCCTCCTGCAGAGGGTGGCATTTCTCCGTGGCCCAAGACAGGGAGAATAAACACC... | benign | 221,788 |
Evaluate the clinical significance of the mutation at chromosome 14, position 60646607 in gene SIX1 (SIX homeobox 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GGAAAGAGTAAGAAAGAAATAATATATTAATGGTGACAATTATAGATGGGAAAAAATCAAAATTATGAAACTGTCATGTCAGAAAATAAATAGATTCTCCCTGGGGAACAATATTTTACAAAGCACAAGCAAGCCAATCCTGTTATCCTGAGTAGAATTTTAATAAATAATGCCATTTGTTTCACTAATTTTAAAAGCTAAATACAGAAGATACATCATTTTGCCCCAGGCAAAAATAATATGGAGCCTACATGATTACTGGGATTTTTCTAGACACCATCCGGCAGCACTGCAAAAGAGCTCCTGTCCTGCTGGTCTGC... | GGAAAGAGTAAGAAAGAAATAATATATTAATGGTGACAATTATAGATGGGAAAAAATCAAAATTATGAAACTGTCATGTCAGAAAATAAATAGATTCTCCCTGGGGAACAATATTTTACAAAGCACAAGCAAGCCAATCCTGTTATCCTGAGTAGAATTTTAATAAATAATGCCATTTGTTTCACTAATTTTAAAAGCTAAATACAGAAGATACATCATTTTGCCCCAGGCAAAAATAATATGGAGCCTACATGATTACTGGGATTTTTCTAGACACCATCCGGCAGCACTGCAAAAGAGCTCCTGTCCTGCTGGTCTGC... | benign | 221,794 |
Assess the variant on chromosome 14, position 60648790, impacting SIX1 (SIX homeobox 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_23', 'Branchiootic_syndrome_3'] | CCAAGGGTAATGGGGGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCA... | CCAAGGGTAATGGGGGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCA... | pathogenic | 221,798 |
A genetic variant at chromosome 14, position 63993818, affecting gene SYNE2 (spectrin repeat containing nuclear envelope protein 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ATACTTTTTTTCATTCATATTCAGCATTTAGCACACTTTATTGAACACTTATAATGAGCTGGGCATTTAGGGGAAATAAAGATGCAGGAAGGCATTGCCCCATTCCTGCGCCTACTCTTTATGAAAGGGCGCCCTATAGGAGTCTCTCTTCATTCTCATCACGGCCTCTGTCTGTCTTCTGGGCCTCAACCCTGTTTTGGCCTACTGGATTTGCTAACCACGCTGGGGCCCTGTTGTCAGTCATTTCAGCATTGCTTTTCCTATGACCTTAGTAGCCCTTGTCTGCTTGATCTCACGCCGTTTGAATTTTGCTAGCTGCC... | ATACTTTTTTTCATTCATATTCAGCATTTAGCACACTTTATTGAACACTTATAATGAGCTGGGCATTTAGGGGAAATAAAGATGCAGGAAGGCATTGCCCCATTCCTGCGCCTACTCTTTATGAAAGGGCGCCCTATAGGAGTCTCTCTTCATTCTCATCACGGCCTCTGTCTGTCTTCTGGGCCTCAACCCTGTTTTGGCCTACTGGATTTGCTAACCACGCTGGGGCCCTGTTGTCAGTCATTTCAGCATTGCTTTTCCTATGACCTTAGTAGCCCTTGTCTGCTTGATCTCACGCCGTTTGAATTTTGCTAGCTGCC... | benign | 221,893 |
A genetic alteration at chromosome 14, position 63993818, in gene SYNE2 (spectrin repeat containing nuclear envelope protein 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATACTTTTTTTCATTCATATTCAGCATTTAGCACACTTTATTGAACACTTATAATGAGCTGGGCATTTAGGGGAAATAAAGATGCAGGAAGGCATTGCCCCATTCCTGCGCCTACTCTTTATGAAAGGGCGCCCTATAGGAGTCTCTCTTCATTCTCATCACGGCCTCTGTCTGTCTTCTGGGCCTCAACCCTGTTTTGGCCTACTGGATTTGCTAACCACGCTGGGGCCCTGTTGTCAGTCATTTCAGCATTGCTTTTCCTATGACCTTAGTAGCCCTTGTCTGCTTGATCTCACGCCGTTTGAATTTTGCTAGCTGCC... | ATACTTTTTTTCATTCATATTCAGCATTTAGCACACTTTATTGAACACTTATAATGAGCTGGGCATTTAGGGGAAATAAAGATGCAGGAAGGCATTGCCCCATTCCTGCGCCTACTCTTTATGAAAGGGCGCCCTATAGGAGTCTCTCTTCATTCTCATCACGGCCTCTGTCTGTCTTCTGGGCCTCAACCCTGTTTTGGCCTACTGGATTTGCTAACCACGCTGGGGCCCTGTTGTCAGTCATTTCAGCATTGCTTTTCCTATGACCTTAGTAGCCCTTGTCTGCTTGATCTCACGCCGTTTGAATTTTGCTAGCTGCC... | benign | 221,894 |
Variant chromosome 14, position 64142069, gene SYNE2 (spectrin repeat containing nuclear envelope protein 2): benign or pathogenic? Disease(s)? | benign | TCAATGTGTCTCAGGACTTGGATACAATCAGAAGCAACATCAACAATTTTTTTGTAAGTTGTAATAGCATATGTTCAGTTAATTACTGGTCAGAAATAAATATCAAGGAAAAAGCATCAGGGTTGATGTGATAGTCTTCGTATTTATTTGTGGATAAGGGGTAAGACTTGGGCGAATGGCAGCTGTGTTCTTCAAACCTAGAACTGTTTATACTGTTCATTCGTTTATAATAAAATATGTTTTTAATTGACCCCATAAAATATATCTGAATTTAAAACTTGCGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTT... | TCAATGTGTCTCAGGACTTGGATACAATCAGAAGCAACATCAACAATTTTTTTGTAAGTTGTAATAGCATATGTTCAGTTAATTACTGGTCAGAAATAAATATCAAGGAAAAAGCATCAGGGTTGATGTGATAGTCTTCGTATTTATTTGTGGATAAGGGGTAAGACTTGGGCGAATGGCAGCTGTGTTCTTCAAACCTAGAACTGTTTATACTGTTCATTCGTTTATAATAAAATATGTTTTTAATTGACCCCATAAAATATATCTGAATTTAAAACTTGCGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTT... | benign | 222,098 |
Clinical classification of chromosome 14, position 64411114, gene MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia', 'Neural_tube_defects,_folate-sensitive'] | TTTCTGGAACTGGTTGTAGTTTTAGTGTTTTAGACAAACTCCTTCAGAAATATTCAGGCCGAAAATAGTTACATGTAAAGGAACAACAACAGCGAGAGACTTCAGACTTCTCCTGTGTGACATTAGATGCCAAAGACAACATCTCCGAAGGAAAATGCTGTCACTCCAAATCAGGCAAGGCCAGTCAAGTGCAAGGGACAGCAGAAAAATATTTTCAGTTATACAGACTTAGAAACATGTCCACCTACCTTTCCTGGAAAACTGACTTATAAGTTACATTTCACTTACTTGAAACATGAATGAAGATAAATTCTAGAACA... | TTTCTGGAACTGGTTGTAGTTTTAGTGTTTTAGACAAACTCCTTCAGAAATATTCAGGCCGAAAATAGTTACATGTAAAGGAACAACAACAGCGAGAGACTTCAGACTTCTCCTGTGTGACATTAGATGCCAAAGACAACATCTCCGAAGGAAAATGCTGTCACTCCAAATCAGGCAAGGCCAGTCAAGTGCAAGGGACAGCAGAAAAATATTTTCAGTTATACAGACTTAGAAACATGTCCACCTACCTTTCCTGGAAAACTGACTTATAAGTTACATTTCACTTACTTGAAACATGAATGAAGATAAATTCTAGAACA... | pathogenic | 222,245 |
Is chromosome 14, position 64767761, gene SPTB (spectrin beta, erythrocytic) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | GGGAAAGAATCGCCTACAAGGATGGGCACCCCCACTTCACCACTGAAGATGCCTGTGGTGGGGCAGGTGGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTGTGTATGGGGTGTGGTGTGTGCATGTGGATGGGTGTGGTGTGTGCATATTTGTGTGTGCATATGTGTGTAT... | GGGAAAGAATCGCCTACAAGGATGGGCACCCCCACTTCACCACTGAAGATGCCTGTGGTGGGGCAGGTGGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTGTGTATGGGGTGTGGTGTGTGCATGTGGATGGGTGTGGTGTGTGCATATTTGTGTGTGCATATGTGTGTAT... | pathogenic | 222,287 |
Chromosome 14, position 64769624, gene SPTB (spectrin beta, erythrocytic): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CTAACAACTGGCCTGGAGTCCTTACATGAGACCCCTGGGGGCACAGTTGCCACCCTCCTGAGCCTCCCAGCACTGTTCCCTGCTCACCGTGGTGGGCTTCTCCAGGGCAGCAAAGCGCTCTGCCCAGCTGGCCGTGGACTTCTCAAAAGCCTCATGCCTCTTGATGAGCTTCTCCACACTGTCCACTGTGTGTCCAAAGTCCCCGCTGGCCAGGTAGGGCTCCTGGGCAATCAGCCACGCCTCAGCCACAGAGGCATCCCTCGAGAACTGGCACACCTCCAGCACTGCCAGGGGGAACAGGACACAGACCCCCCACAAGG... | CTAACAACTGGCCTGGAGTCCTTACATGAGACCCCTGGGGGCACAGTTGCCACCCTCCTGAGCCTCCCAGCACTGTTCCCTGCTCACCGTGGTGGGCTTCTCCAGGGCAGCAAAGCGCTCTGCCCAGCTGGCCGTGGACTTCTCAAAAGCCTCATGCCTCTTGATGAGCTTCTCCACACTGTCCACTGTGTGTCCAAAGTCCCCGCTGGCCAGGTAGGGCTCCTGGGCAATCAGCCACGCCTCAGCCACAGAGGCATCCCTCGAGAACTGGCACACCTCCAGCACTGCCAGGGGGAACAGGACACAGACCCCCCACAAGG... | pathogenic | 222,293 |
Considering the variant on chromosome 14, location 64769670, involving gene SPTB (spectrin beta, erythrocytic), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TTGCCACCCTCCTGAGCCTCCCAGCACTGTTCCCTGCTCACCGTGGTGGGCTTCTCCAGGGCAGCAAAGCGCTCTGCCCAGCTGGCCGTGGACTTCTCAAAAGCCTCATGCCTCTTGATGAGCTTCTCCACACTGTCCACTGTGTGTCCAAAGTCCCCGCTGGCCAGGTAGGGCTCCTGGGCAATCAGCCACGCCTCAGCCACAGAGGCATCCCTCGAGAACTGGCACACCTCCAGCACTGCCAGGGGGAACAGGACACAGACCCCCCACAAGGCCCAGGGCCTGTTAGCACCCAATCGTTCACTCCTGATTGGGGCCAG... | TTGCCACCCTCCTGAGCCTCCCAGCACTGTTCCCTGCTCACCGTGGTGGGCTTCTCCAGGGCAGCAAAGCGCTCTGCCCAGCTGGCCGTGGACTTCTCAAAAGCCTCATGCCTCTTGATGAGCTTCTCCACACTGTCCACTGTGTGTCCAAAGTCCCCGCTGGCCAGGTAGGGCTCCTGGGCAATCAGCCACGCCTCAGCCACAGAGGCATCCCTCGAGAACTGGCACACCTCCAGCACTGCCAGGGGGAACAGGACACAGACCCCCCACAAGGCCCAGGGCCTGTTAGCACCCAATCGTTCACTCCTGATTGGGGCCAG... | pathogenic | 222,294 |
Is the variant located on chromosome 14 at position 64772564, gene SPTB (spectrin beta, erythrocytic), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GCCCCCTCACATCCCAGGGCTGGGAGAAGAATGCGCAGTCTTAGACCTGCCCAGCTTTGGATATGTGAGTTGCTTATTTTCACTGACAACCATGGTCACTGTTCCCATTAGAGAACCTGAATGACAGATGTCTCTCTCTCTACACTCAGGACTCTCCTGACTCTGGAGCGATTGGTCCTCCCAGTGGAAGCTGACCCAGGCCATTTCTGCCTCGATCCAGCCTCAGGCCTCAAGTGTCCCCCAGGGATTTTCATGGAACGATAGTCCAGGACTGTCCCTTCACGGAGGAGCCACAGTGCAGCACCCTGGTTGGCCGGGCT... | GCCCCCTCACATCCCAGGGCTGGGAGAAGAATGCGCAGTCTTAGACCTGCCCAGCTTTGGATATGTGAGTTGCTTATTTTCACTGACAACCATGGTCACTGTTCCCATTAGAGAACCTGAATGACAGATGTCTCTCTCTCTACACTCAGGACTCTCCTGACTCTGGAGCGATTGGTCCTCCCAGTGGAAGCTGACCCAGGCCATTTCTGCCTCGATCCAGCCTCAGGCCTCAAGTGTCCCCCAGGGATTTTCATGGAACGATAGTCCAGGACTGTCCCTTCACGGAGGAGCCACAGTGCAGCACCCTGGTTGGCCGGGCT... | benign | 222,297 |
Variant at chromosome 14, position 64773216, gene SPTB (spectrin beta, erythrocytic): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | TGCTCCCTAGGTGCTGTGGGCCTAGGACTGGAAGGGCAGCTACCTCCTCCTGGCCTCCCTGCCCAGGGCACTGCTGGAAGGTAGGATCTTCAGCCTCCACCCAGTGGGTGCTGTAGGAGAAGACTCCTTGCTTTAACACCTCTGCCTACCCAAGATACCTCTTGAACTTTGTGAAGGTTTGGGAGTGAGAGGAAATCCTGCCCTTTGATCTCCTCAACAATACACTAATGAGAGGAACTACATATCAGGCACTGTTCTAAACACTTTCTACTGATGAACTCTCTTCGTCTTTCCAACAAACCCAGGAAGGAGGTACTATT... | TGCTCCCTAGGTGCTGTGGGCCTAGGACTGGAAGGGCAGCTACCTCCTCCTGGCCTCCCTGCCCAGGGCACTGCTGGAAGGTAGGATCTTCAGCCTCCACCCAGTGGGTGCTGTAGGAGAAGACTCCTTGCTTTAACACCTCTGCCTACCCAAGATACCTCTTGAACTTTGTGAAGGTTTGGGAGTGAGAGGAAATCCTGCCCTTTGATCTCCTCAACAATACACTAATGAGAGGAACTACATATCAGGCACTGTTCTAAACACTTTCTACTGATGAACTCTCTTCGTCTTTCCAACAAACCCAGGAAGGAGGTACTATT... | pathogenic | 222,302 |
Clinical impact (benign or pathogenic) of the variant at chromosome 14, location 64791772, gene SPTB (spectrin beta, erythrocytic): what disease(s) if pathogenic? | pathogenic; ['Hereditary_spherocytosis_type_2'] | GGAAAGTCCTTGGGGACAAAAATAATTAGAATGTAAGATAGGATATGAAGCTCAAAACCAGTACAAAGGAGGAAAAGATTGCTTTTCATCTGGAAAACTGGAAAGCAAGCGACTTGGACTGGCTCATGCAGAGACAGGATTTGGAATATGTAGAGGGAGGGAGAATGCACCCTGAGGGAAAGAACCGCAGAGGCATGAGGCGACACTGGGGGTGGAGGTATAGAATGAGCATTGTTCTGAAAAATAATTGAAGAGCTATACACGGAAGAGGAACCAGGGTAAGTGTGATATCTCTCAAGGGCAGAGCCAGAATCAATATG... | GGAAAGTCCTTGGGGACAAAAATAATTAGAATGTAAGATAGGATATGAAGCTCAAAACCAGTACAAAGGAGGAAAAGATTGCTTTTCATCTGGAAAACTGGAAAGCAAGCGACTTGGACTGGCTCATGCAGAGACAGGATTTGGAATATGTAGAGGGAGGGAGAATGCACCCTGAGGGAAAGAACCGCAGAGGCATGAGGCGACACTGGGGGTGGAGGTATAGAATGAGCATTGTTCTGAAAAATAATTGAAGAGCTATACACGGAAGAGGAACCAGGGTAAGTGTGATATCTCTCAAGGGCAGAGCCAGAATCAATATG... | pathogenic | 222,355 |
Gene mutation in SPTB (spectrin beta, erythrocytic) at chromosome 14, position 64797809—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | CAGCTAGTTCTGCCTTACTTTTGCAGCCTGTCTTATCAGACCCAAGTTCCAAAAATTAATGTCTCACAAGAGACTCTAAGAGAAGTTCATGATTTTACTCCCCGTGCCACCCGCGTGGGAGATGCAGCCTGCGTGTTACTAATGGAGCCCCTTGGCAGCCTGCTGGCACTCCCCACATGCCTCGAGTGGACCTGTTGGATTTGGGGCAGGAAGGGGCTGCTTCTCACTCGGAAACCCATGCACCAGCAAACAGATGGTTTATTCACATGCTATCTGGGGTGCGCATACACTCTCCAGTGCTCTCAGAATACTTGTTGCCC... | CAGCTAGTTCTGCCTTACTTTTGCAGCCTGTCTTATCAGACCCAAGTTCCAAAAATTAATGTCTCACAAGAGACTCTAAGAGAAGTTCATGATTTTACTCCCCGTGCCACCCGCGTGGGAGATGCAGCCTGCGTGTTACTAATGGAGCCCCTTGGCAGCCTGCTGGCACTCCCCACATGCCTCGAGTGGACCTGTTGGATTTGGGGCAGGAAGGGGCTGCTTCTCACTCGGAAACCCATGCACCAGCAAACAGATGGTTTATTCACATGCTATCTGGGGTGCGCATACACTCTCCAGTGCTCTCAGAATACTTGTTGCCC... | pathogenic | 222,381 |
Evaluate if the mutation on chromosome 14 at position 65077974 in MAX (MYC associated factor X) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | TTCAATAGGAGCGATACATAGCTTTTTAGAAAAAGGAAAAAAAAAAAACCCTTAAAAAGGAGGAGGGTTCATTCTGATTACTCCAAACCGGTCATCTTCTCAAAGTAGAGCAGTTCAGATTCACAAAGTCTATCAGAGGTGAGGGCGGGCCAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCTGGAGGAGCTGGTAGGGTGGGCAGGACACTATGTGCTCAGAGGTCCGGCCGGCCGTCTGTCCTCCACAGAAAAAGCTGCCAAGTTGGGGTGTTTTGGTTTAAAAATTCCTGTTGGGG... | TTCAATAGGAGCGATACATAGCTTTTTAGAAAAAGGAAAAAAAAAAAACCCTTAAAAAGGAGGAGGGTTCATTCTGATTACTCCAAACCGGTCATCTTCTCAAAGTAGAGCAGTTCAGATTCACAAAGTCTATCAGAGGTGAGGGCGGGCCAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCTGGAGGAGCTGGTAGGGTGGGCAGGACACTATGTGCTCAGAGGTCCGGCCGGCCGTCTGTCCTCCACAGAAAAAGCTGCCAAGTTGGGGTGTTTTGGTTTAAAAATTCCTGTTGGGG... | pathogenic | 222,465 |
The mutation in gene MAX (MYC associated factor X) at chromosome 14, position 65077979—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | TAGGAGCGATACATAGCTTTTTAGAAAAAGGAAAAAAAAAAAACCCTTAAAAAGGAGGAGGGTTCATTCTGATTACTCCAAACCGGTCATCTTCTCAAAGTAGAGCAGTTCAGATTCACAAAGTCTATCAGAGGTGAGGGCGGGCCAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCTGGAGGAGCTGGTAGGGTGGGCAGGACACTATGTGCTCAGAGGTCCGGCCGGCCGTCTGTCCTCCACAGAAAAAGCTGCCAAGTTGGGGTGTTTTGGTTTAAAAATTCCTGTTGGGGACAGG... | TAGGAGCGATACATAGCTTTTTAGAAAAAGGAAAAAAAAAAAACCCTTAAAAAGGAGGAGGGTTCATTCTGATTACTCCAAACCGGTCATCTTCTCAAAGTAGAGCAGTTCAGATTCACAAAGTCTATCAGAGGTGAGGGCGGGCCAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCTGGAGGAGCTGGTAGGGTGGGCAGGACACTATGTGCTCAGAGGTCCGGCCGGCCGTCTGTCCTCCACAGAAAAAGCTGCCAAGTTGGGGTGTTTTGGTTTAAAAATTCCTGTTGGGGACAGG... | pathogenic | 222,466 |
Clinically, how would you classify the variant at chromosome 14, position 65101586, gene MAX (MYC associated factor X): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ACAAACAAACAAACAAACAAACAAAAAAAACACAACTTTCTCTTACTGGGAAGTCAGTATAATTTCAATTCAAAGGATAATTCTGCAAAGGAAGGCTAAACGATCCTTACCCTCCAGCTCTGATCAAGCCCTAGCACAGATTTTACAACTGGAGACTTGCAGGGAAAAAAAAAGTTTTCAACAGACTAGGCCCCAAACATGAAGGATAAAAGTAAATGTGAAAAAGGAATTCAATTTTCAAATATATGCATAAGTATATGAGAATACTTCAAGGATAAATAAAATAAAACAAATTATCTTTAATGACTATTACCCAGGGA... | ACAAACAAACAAACAAACAAACAAAAAAAACACAACTTTCTCTTACTGGGAAGTCAGTATAATTTCAATTCAAAGGATAATTCTGCAAAGGAAGGCTAAACGATCCTTACCCTCCAGCTCTGATCAAGCCCTAGCACAGATTTTACAACTGGAGACTTGCAGGGAAAAAAAAAGTTTTCAACAGACTAGGCCCCAAACATGAAGGATAAAAGTAAATGTGAAAAAGGAATTCAATTTTCAAATATATGCATAAGTATATGAGAATACTTCAAGGATAAATAAAATAAAACAAATTATCTTTAATGACTATTACCCAGGGA... | benign | 222,490 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 66922783, gene GPHN (gephyrin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C'] | ACCCCCCACACTCTTTCCCATAAATTCCCATAAGTCCCCAAAGTTCATTGTGTCATTCCTATGCCTTTGCGTCCTCATAGCTTAGCTCCCACATATCAGTGAAAACATACGATGTTTGGTTTTCCATTTCTGAGTTACTTCACTTAGAATAATAGTCTGTAATCTCATCCAGGTCATTGCAAGTGGTGTTAATTCATTACTTTTTATGGCTGAGTAATATACCATCATATATATATAAAATAGTTTCTTTATCCACTCATTGATTGATGGGCATTTGGGTTGGTTCCACGATTTTGCAATTATGAATTATGCTGCTATAA... | ACCCCCCACACTCTTTCCCATAAATTCCCATAAGTCCCCAAAGTTCATTGTGTCATTCCTATGCCTTTGCGTCCTCATAGCTTAGCTCCCACATATCAGTGAAAACATACGATGTTTGGTTTTCCATTTCTGAGTTACTTCACTTAGAATAATAGTCTGTAATCTCATCCAGGTCATTGCAAGTGGTGTTAATTCATTACTTTTTATGGCTGAGTAATATACCATCATATATATATAAAATAGTTTCTTTATCCACTCATTGATTGATGGGCATTTGGGTTGGTTCCACGATTTTGCAATTATGAATTATGCTGCTATAA... | pathogenic | 222,526 |
Does the chromosome 14 mutation at position 67722698 within gene GPHN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Leber_congenital_amaurosis_13', 'Retinal_dystrophy'] | CTTTCCATTCTGTTCTATTGATTTGTCTGCCTATTCACCTACCTGTACTTAGTAGTATGGTTTAGCATTTTGGTACAACTTATCAATGATATGATGGTGGCCTTTGGATTATAATATTTAACATTTTATTTTAGCAAAGTGTTTGTGTATTTTCATAATTCTAGATGCCTTATGGTCCTTCTAATATCTTCTCTCCAGAGGACTGTATGCTGTTCTTAAGGACTCTCTGCTTCCTGGACAAGCTCAAGCTAAGGTGAGTACCATCTTCTTAAATGCAAGGATCTTAGATTTGAGTCAAGAAGTGTCTGCTGGGAATGATC... | CTTTCCATTCTGTTCTATTGATTTGTCTGCCTATTCACCTACCTGTACTTAGTAGTATGGTTTAGCATTTTGGTACAACTTATCAATGATATGATGGTGGCCTTTGGATTATAATATTTAACATTTTATTTTAGCAAAGTGTTTGTGTATTTTCATAATTCTAGATGCCTTATGGTCCTTCTAATATCTTCTCTCCAGAGGACTGTATGCTGTTCTTAAGGACTCTCTGCTTCCTGGACAAGCTCAAGCTAAGGTGAGTACCATCTTCTTAAATGCAAGGATCTTAGATTTGAGTCAAGAAGTGTCTGCTGGGAATGATC... | pathogenic | 222,568 |
Gene GPHN variant at chromosome position 67725099 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_13'] | GAACTCGGAGACTCTGTCCCTATTCAGGGTGGCCCTGCTGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGA... | GAACTCGGAGACTCTGTCCCTATTCAGGGTGGCCCTGCTGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGA... | pathogenic | 222,583 |
A genetic variant at chromosome 14, position 67725120, affecting gene GPHN—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_13', 'Retinal_dystrophy'] | ATTCAGGGTGGCCCTGCTGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACA... | ATTCAGGGTGGCCCTGCTGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACA... | pathogenic | 222,586 |
Clinical impact (benign or pathogenic) of the variant at chromosome 14, location 67727017, gene GPHN: what disease(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_13'] | TATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAA... | TATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAA... | pathogenic | 222,607 |
A genetic alteration at chromosome 14, position 67727077, in gene GPHN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Leber_congenital_amaurosis_13'] | AGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCAT... | AGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCAT... | pathogenic | 222,612 |
Does the genetic variant at chromosome 14, position 67727111, impacting gene GPHN, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_13'] | TATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAA... | TATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAA... | pathogenic | 222,613 |
A genetic variant at chromosome 14, position 67729222, affecting gene GPHN—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Leber_congenital_amaurosis_13', 'Retinitis_pigmentosa'] | GGCCAAGAGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTT... | GGCCAAGAGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTT... | pathogenic | 222,626 |
Variant in gene GPHN, located at chromosome 14 position 67729228: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_13'] | GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTG... | GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTG... | pathogenic | 222,627 |
The genetic variant at chromosome 14, position 67729245, affecting gene GPHN: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_13', 'Retinal_dystrophy'] | CTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTC... | CTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTC... | pathogenic | 222,630 |
Gene mutation in GPHN at chromosome 14, position 67729286—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Leber_congenital_amaurosis_13', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | TAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCA... | TAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCA... | pathogenic | 222,634 |
Gene mutation in GPHN at chromosome 14, position 67729307—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Leber_congenital_amaurosis_13', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_53'] | GAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGG... | GAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGG... | pathogenic | 222,635 |
Clinically, how would you classify the variant at chromosome 14, position 67729310, gene GPHN: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Leber_congenital_amaurosis_13'] | GTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTC... | GTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTC... | pathogenic | 222,636 |
Does the variant impacting GPHN on chromosome 14, position 67729311, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Leber_congenital_amaurosis_13'] | TCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCA... | TCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCA... | pathogenic | 222,637 |
Regarding the variant at chromosome 14 and position 67729311, affecting gene GPHN: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_13'] | TCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCA... | TCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCA... | pathogenic | 222,638 |
Chromosome 14, position 67729336, gene GPHN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Abnormality_of_the_eye', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_13', 'RDH12-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | AGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCATCAGCCTCTT... | AGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCATCAGCCTCTT... | pathogenic | 222,640 |
Does the genetic variant at chromosome 14, position 67729343, impacting gene GPHN, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_13'] | TCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCATCAGCCTCTTGAGTAGT... | TCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCATCAGCCTCTTGAGTAGT... | pathogenic | 222,641 |
Benign or pathogenic: chromosome 14, position 67752457, gene ZFYVE26 (zinc finger FYVE-type containing 26) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_15'] | CCCCTCCTGGCCTGGGACCCTTCCTGCAGATGGCAGAAGGATCAATCCAGTGGTCAGCCACAAATGGGGGCATCTGGGAAGATTTTTATTCTGACTGGCACTCCTCCCAAAGGCAACGGGAAGCAAAGGTTCACCATTTTCCCAAACAGGGACGAGTTCTTTGGCCCCTGAGGAGAGGTTCATTCTGGAGACCGAGACATTGTTGGACATTGTTGGTCAAAGTGTGGGGTGGGGATTTTTTTCTTACTGTACCTTTTTCCCTCTAGGATAAAGAGATACCTGCTTACTCTGGGAACCTCAATCCATCAGTCCACCCAAAG... | CCCCTCCTGGCCTGGGACCCTTCCTGCAGATGGCAGAAGGATCAATCCAGTGGTCAGCCACAAATGGGGGCATCTGGGAAGATTTTTATTCTGACTGGCACTCCTCCCAAAGGCAACGGGAAGCAAAGGTTCACCATTTTCCCAAACAGGGACGAGTTCTTTGGCCCCTGAGGAGAGGTTCATTCTGGAGACCGAGACATTGTTGGACATTGTTGGTCAAAGTGTGGGGTGGGGATTTTTTTCTTACTGTACCTTTTTCCCTCTAGGATAAAGAGATACCTGCTTACTCTGGGAACCTCAATCCATCAGTCCACCCAAAG... | pathogenic | 222,660 |
Variant at chromosome 14, position 67753782, gene ZFYVE26 (zinc finger FYVE-type containing 26): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATACTCCAGCCTGGGCGACAGCGCGAGACTCTGTCTCAAAAAAAAAAAAGAACAAGAAAGAAAATTTAACCATAACACTAAGCTTCAGAATTTAGGGAGAAGGAACAGTTCCCAAGAGGCCTGTCCTCGGCCTTCACAAATGGATGTGGCTCTGTTCACTCCACAAAGCCACCATGGGAGGACAATTCCGCAGATAACAGGCTTCAAAGTTCATCTGCTGGCCCACCCT... | GTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATACTCCAGCCTGGGCGACAGCGCGAGACTCTGTCTCAAAAAAAAAAAAGAACAAGAAAGAAAATTTAACCATAACACTAAGCTTCAGAATTTAGGGAGAAGGAACAGTTCCCAAGAGGCCTGTCCTCGGCCTTCACAAATGGATGTGGCTCTGTTCACTCCACAAAGCCACCATGGGAGGACAATTCCGCAGATAACAGGCTTCAAAGTTCATCTGCTGGCCCACCCT... | benign | 222,667 |
Is the genetic variant on chromosome 14, position 67756123, gene ZFYVE26 (zinc finger FYVE-type containing 26), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | CAGGCAACATCCATTTTCATGTGGTTATTTCCAAACAGGGTTGGCAGAGGCAAAGTGGTGATTTGAGAGGTCCCAGCACTTTCGCACCGATGCAAGAACCTGGTCACTTCCATCTGCAGCTGAAGTGTGTTCATGTGCCTGTGGTGACAGAATATGCACAGTCCAGCCTCATGAGGGGCCCCAGGTGACTGAGGCCAGGAGACTGAGAAGTCGAATAATATGGCAATGAAAAAGGGAAAACAAATGATATAGTGGGAAAAGAGACCTCAAGTACCTTGTGAGCAGTTATGACAAGACCAAAAAAATGGTGATCTCGTGTC... | CAGGCAACATCCATTTTCATGTGGTTATTTCCAAACAGGGTTGGCAGAGGCAAAGTGGTGATTTGAGAGGTCCCAGCACTTTCGCACCGATGCAAGAACCTGGTCACTTCCATCTGCAGCTGAAGTGTGTTCATGTGCCTGTGGTGACAGAATATGCACAGTCCAGCCTCATGAGGGGCCCCAGGTGACTGAGGCCAGGAGACTGAGAAGTCGAATAATATGGCAATGAAAAAGGGAAAACAAATGATATAGTGGGAAAAGAGACCTCAAGTACCTTGTGAGCAGTTATGACAAGACCAAAAAAATGGTGATCTCGTGTC... | pathogenic | 222,683 |
Is chromosome 14, position 67761563, gene ZFYVE26 (zinc finger FYVE-type containing 26) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | TCAGGAGTCTGAGGCAGGAGAATCGTTTGAACCTGGGAAGCAGAGGTTGTAGTGAGCTGAGATCTCACCACCGCGCTCCAGCCTGGCAACAGAGCAAGACTCTGGCTCAAAAAAAAAAAAAAAAAGTGCATGGTATATCAGGAAAATTTAAGTAATTTAATGAGTCTGGAATGTAAGGTACACATAGGATTTGTGGTGAAAATAAATTAGAGAAATAAGGAGGCCTGATCCTGGTTAGTTCTGTAGCATGCTAAGGAATCTGAAGTTCTTCCTATGGCCATGGAGATCCTCTGAAAGCCTTTTAGGGAGGGGAATAACAT... | TCAGGAGTCTGAGGCAGGAGAATCGTTTGAACCTGGGAAGCAGAGGTTGTAGTGAGCTGAGATCTCACCACCGCGCTCCAGCCTGGCAACAGAGCAAGACTCTGGCTCAAAAAAAAAAAAAAAAAGTGCATGGTATATCAGGAAAATTTAAGTAATTTAATGAGTCTGGAATGTAAGGTACACATAGGATTTGTGGTGAAAATAAATTAGAGAAATAAGGAGGCCTGATCCTGGTTAGTTCTGTAGCATGCTAAGGAATCTGAAGTTCTTCCTATGGCCATGGAGATCCTCTGAAAGCCTTTTAGGGAGGGGAATAACAT... | pathogenic | 222,692 |
A genetic variant on chromosome 14, position 67762275, affects the gene ZFYVE26 (zinc finger FYVE-type containing 26). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | AAACTGAGGAAAAGGAAAAAAGTTAGCAACTCAACTCCATATAACATGACTTCTACATTATTCTTAAGACCTGGTTAGTAGCTAAGAATAGTCAGTAGCTAAGCACTGGTAAAAACACCCCCCTTCAGTGTCCTGTAGGGGTATAGTCATAATAACTTTGTGAACTGCTGATTTCACTTGGATCAATCTTAGAAAATATGTCTATCTGTACATTTGCATTGGCTGCTGTTTTGAATTAGGGTGGCAGAGTGAAATTAAAGTCTGCCTTGAGCTCCTTCAATTTCCTACAAAATTTGGTACATCTCAGCCAATTTCTCCAA... | AAACTGAGGAAAAGGAAAAAAGTTAGCAACTCAACTCCATATAACATGACTTCTACATTATTCTTAAGACCTGGTTAGTAGCTAAGAATAGTCAGTAGCTAAGCACTGGTAAAAACACCCCCCTTCAGTGTCCTGTAGGGGTATAGTCATAATAACTTTGTGAACTGCTGATTTCACTTGGATCAATCTTAGAAAATATGTCTATCTGTACATTTGCATTGGCTGCTGTTTTGAATTAGGGTGGCAGAGTGAAATTAAAGTCTGCCTTGAGCTCCTTCAATTTCCTACAAAATTTGGTACATCTCAGCCAATTTCTCCAA... | pathogenic | 222,697 |
Determine if the mutation at chromosome 14, position 67767778 in gene ZFYVE26 (zinc finger FYVE-type containing 26) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | CTACCTGGGACACAGGAATAGACCAATTCCCAGAGTGCTTTTTAAAATCTATTATCCAGAATTCACTGAAGTCACAGTTTGAATTTGGTCAGGATTGGAGTAGAGTTTTGTTCAAGGCTAATCACTGGACATTCAAGGAGGACACATTTTCTTTAAAAGCCAGAAAGTCCCACAGAGACTAAAGGTGGTTCCCTACATTGACTTTAATGACAAATCAACTAATGAAAGTCTTTACTCTCTTTCTGACTGGTATAGCTAGAGTAAACTCTGCTTTGAGGGTCTGCTCTGAAAAAGAAAAGGACACAGGGTGTCAGGTAGGA... | CTACCTGGGACACAGGAATAGACCAATTCCCAGAGTGCTTTTTAAAATCTATTATCCAGAATTCACTGAAGTCACAGTTTGAATTTGGTCAGGATTGGAGTAGAGTTTTGTTCAAGGCTAATCACTGGACATTCAAGGAGGACACATTTTCTTTAAAAGCCAGAAAGTCCCACAGAGACTAAAGGTGGTTCCCTACATTGACTTTAATGACAAATCAACTAATGAAAGTCTTTACTCTCTTTCTGACTGGTATAGCTAGAGTAAACTCTGCTTTGAGGGTCTGCTCTGAAAAAGAAAAGGACACAGGGTGTCAGGTAGGA... | pathogenic | 222,709 |
Benign or pathogenic: chromosome 14, position 67769730, gene ZFYVE26 (zinc finger FYVE-type containing 26) variant? Disease(s) if pathogenic? | pathogenic; ['Spastic_paraplegia'] | CATTGCATTTTATTGCTATTACCTGCTCATAGTAAAATTCACTCCGCACCAGCTCATTTTCCTCCTCTTTGAGATCCAAAATCCATTCCACCTCATCTGCTTTGGGGACTCTCACCACAAACGAGTATGGAGGGCTTTCATTCTTGGAGCTGTCTAGAGCTGAGAAGAGAAATGCCATTCATGTGTCATTCACTGGCTGGCAGTTCAGTCTAACCCAGTCCAGTGAGCTGGCATGAGTTGCAGGTAGACACTTGCCTGCTATCTCAGGGCCCCTTTCTCTCTCCTTGGTTCCTTTTGTTTGCTTTAGGACACCCCACTAA... | CATTGCATTTTATTGCTATTACCTGCTCATAGTAAAATTCACTCCGCACCAGCTCATTTTCCTCCTCTTTGAGATCCAAAATCCATTCCACCTCATCTGCTTTGGGGACTCTCACCACAAACGAGTATGGAGGGCTTTCATTCTTGGAGCTGTCTAGAGCTGAGAAGAGAAATGCCATTCATGTGTCATTCACTGGCTGGCAGTTCAGTCTAACCCAGTCCAGTGAGCTGGCATGAGTTGCAGGTAGACACTTGCCTGCTATCTCAGGGCCCCTTTCTCTCTCCTTGGTTCCTTTTGTTTGCTTTAGGACACCCCACTAA... | pathogenic | 222,719 |
Determine whether the variant at chromosome 14, position 67777506, in gene ZFYVE26 (zinc finger FYVE-type containing 26) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTATTTCAGTTTCTTCAATGTAGAAGAGGCTGAGTCAGCTCACATACAAGTGATATCCGATGTGATCCTGGGAATAAGGCATACTCTCAATACCAAATGATGGCACTGAAGAGCCCGCTATATCAAGGCCAGACAGAGACCATTTCCAGCATATTTTGCTTTCCAAACCTTTATGTTATTATGTGCATGCAGTGGTTATCTACCACCTTTTAATTCTGGTCATTATTCTACTTCCTCCAAGACCAAGATCTCTCCTATATAATAAAGAGATAGCTCTTCTGAAGTGTATTCATTCACTCTAGATCAACCCAAAATATTAA... | TTATTTCAGTTTCTTCAATGTAGAAGAGGCTGAGTCAGCTCACATACAAGTGATATCCGATGTGATCCTGGGAATAAGGCATACTCTCAATACCAAATGATGGCACTGAAGAGCCCGCTATATCAAGGCCAGACAGAGACCATTTCCAGCATATTTTGCTTTCCAAACCTTTATGTTATTATGTGCATGCAGTGGTTATCTACCACCTTTTAATTCTGGTCATTATTCTACTTCCTCCAAGACCAAGATCTCTCCTATATAATAAAGAGATAGCTCTTCTGAAGTGTATTCATTCACTCTAGATCAACCCAAAATATTAA... | benign | 222,732 |
Regarding the variant at chromosome 14 and position 67781446, affecting gene ZFYVE26 (zinc finger FYVE-type containing 26): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia', 'Spastic_paraplegia'] | ATTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCTGCCTGTAATCCAAGCTACTTGGGAGCCTGAGGCAGGAGAATCATCTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGAAATAGCAAGACTCCATCTCAAAAATAATAATAAAAATAAAGATAAATAAAAAGGTGACATGGTTATGGAATAATGGGAACTGCGAGTGGGAGTGTAACTGGGGTGAGTGTTTTGAAGTGTGAGTTGGTAATATTCTAGCAAAGGTGAGGACACTCATGACCAATGACCCAGCAAT... | ATTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCTGCCTGTAATCCAAGCTACTTGGGAGCCTGAGGCAGGAGAATCATCTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGAAATAGCAAGACTCCATCTCAAAAATAATAATAAAAATAAAGATAAATAAAAAGGTGACATGGTTATGGAATAATGGGAACTGCGAGTGGGAGTGTAACTGGGGTGAGTGTTTTGAAGTGTGAGTTGGTAATATTCTAGCAAAGGTGAGGACACTCATGACCAATGACCCAGCAAT... | pathogenic | 222,745 |
Evaluate if the mutation on chromosome 14 at position 67783037 in ZFYVE26 (zinc finger FYVE-type containing 26) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | TGAAATTTAAAACAAACTTTATAGAAGACACAATATACAAAAATATACACAAAGCTCAAAAAGACATGTGAAAAAGCCTTTTTGGACTGTAATACACCATTCCAATGTTAATTTTGTTATTTTTACCCTCACTTCATGCAAATGTATTTAAAATTATAGGAATAAGTAACACAGCAACCAGCTAGGAGGCCTCCCTGCTGTTCACCTAAGAACTGAAGCCAGATGCAAAGCAAAACCCAGACCTATATTTTCTCTTTCTTAAAGTCCCCCATCATATAAGATAGGTTGGGGTTGATCATAGAGTGAGAAGCCCGTTCCCT... | TGAAATTTAAAACAAACTTTATAGAAGACACAATATACAAAAATATACACAAAGCTCAAAAAGACATGTGAAAAAGCCTTTTTGGACTGTAATACACCATTCCAATGTTAATTTTGTTATTTTTACCCTCACTTCATGCAAATGTATTTAAAATTATAGGAATAAGTAACACAGCAACCAGCTAGGAGGCCTCCCTGCTGTTCACCTAAGAACTGAAGCCAGATGCAAAGCAAAACCCAGACCTATATTTTCTCTTTCTTAAAGTCCCCCATCATATAAGATAGGTTGGGGTTGATCATAGAGTGAGAAGCCCGTTCCCT... | pathogenic | 222,753 |
Is the genetic mutation found on chromosome 14 at position 67783052, within the gene ZFYVE26 (zinc finger FYVE-type containing 26), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | ACTTTATAGAAGACACAATATACAAAAATATACACAAAGCTCAAAAAGACATGTGAAAAAGCCTTTTTGGACTGTAATACACCATTCCAATGTTAATTTTGTTATTTTTACCCTCACTTCATGCAAATGTATTTAAAATTATAGGAATAAGTAACACAGCAACCAGCTAGGAGGCCTCCCTGCTGTTCACCTAAGAACTGAAGCCAGATGCAAAGCAAAACCCAGACCTATATTTTCTCTTTCTTAAAGTCCCCCATCATATAAGATAGGTTGGGGTTGATCATAGAGTGAGAAGCCCGTTCCCTTTCTCTTGATGCGAG... | ACTTTATAGAAGACACAATATACAAAAATATACACAAAGCTCAAAAAGACATGTGAAAAAGCCTTTTTGGACTGTAATACACCATTCCAATGTTAATTTTGTTATTTTTACCCTCACTTCATGCAAATGTATTTAAAATTATAGGAATAAGTAACACAGCAACCAGCTAGGAGGCCTCCCTGCTGTTCACCTAAGAACTGAAGCCAGATGCAAAGCAAAACCCAGACCTATATTTTCTCTTTCTTAAAGTCCCCCATCATATAAGATAGGTTGGGGTTGATCATAGAGTGAGAAGCCCGTTCCCTTTCTCTTGATGCGAG... | pathogenic | 222,754 |
Variant at chromosome 14, position 67783509, gene ZFYVE26 (zinc finger FYVE-type containing 26): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | ACTGTAGGGCCAGCCGACTTCTCAGAGATGCATCCTTCACGGGAAACAGGTATTGCCAACCTTCTTTGTCTATAAGACAAAAAAGATGCTCAGAGGCAGCAAGCGTGGGACCAGAAGAGTTCAAGAGTCCAGGTTACTTCTTGAGAAAGGGCTTTCTTCAATCTCGTAAAAGAGGAGCTTGGAGGATCCTTAAGATGGATGTGATCTTAACTAGTTTTTACACTTGGAACCATTATATGACAAGGAAAATGCTGTATCTCTACCCTATGTGTATCTTTAGGTAAACCTGATAATAGCCATGAGACTTTCAGAAGGAAGAG... | ACTGTAGGGCCAGCCGACTTCTCAGAGATGCATCCTTCACGGGAAACAGGTATTGCCAACCTTCTTTGTCTATAAGACAAAAAAGATGCTCAGAGGCAGCAAGCGTGGGACCAGAAGAGTTCAAGAGTCCAGGTTACTTCTTGAGAAAGGGCTTTCTTCAATCTCGTAAAAGAGGAGCTTGGAGGATCCTTAAGATGGATGTGATCTTAACTAGTTTTTACACTTGGAACCATTATATGACAAGGAAAATGCTGTATCTCTACCCTATGTGTATCTTTAGGTAAACCTGATAATAGCCATGAGACTTTCAGAAGGAAGAG... | pathogenic | 222,761 |
For chromosome 14, position 67785115, gene ZFYVE26 (zinc finger FYVE-type containing 26): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | TGTTCCAGAAGGCGCTCACACTCCCGGGCTACCTGCTCTGCAGCCAGAGGCACCTCCCTGCGGCCACGAAGTTCCTTCCATGACAAGCTGGGTTTGCTGACCTTTAACCTCGGGGAAGCCCCCAGGCAGGCCACCGTAGCTAGGAGCTTTGAGCGTGACTTAAGAAAGGCCAAGGCAGAGGAGGTGAGGGCTGGGAGTGATGAGTCCCTTGGGGAGGAGTAGGGCTTTCTTTCCAATGTAGGGTTCTCAGTTGTCCTCGGGGAGCTCGGTGTAGAAAGTGGGAGGTCATCCAGGCAGTGAGAGGCGTGTAGCTGGGCCAG... | TGTTCCAGAAGGCGCTCACACTCCCGGGCTACCTGCTCTGCAGCCAGAGGCACCTCCCTGCGGCCACGAAGTTCCTTCCATGACAAGCTGGGTTTGCTGACCTTTAACCTCGGGGAAGCCCCCAGGCAGGCCACCGTAGCTAGGAGCTTTGAGCGTGACTTAAGAAAGGCCAAGGCAGAGGAGGTGAGGGCTGGGAGTGATGAGTCCCTTGGGGAGGAGTAGGGCTTTCTTTCCAATGTAGGGTTCTCAGTTGTCCTCGGGGAGCTCGGTGTAGAAAGTGGGAGGTCATCCAGGCAGTGAGAGGCGTGTAGCTGGGCCAG... | pathogenic | 222,768 |
Gene mutation in ZFYVE26 (zinc finger FYVE-type containing 26) at chromosome 14, position 67785208—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Spastic_paraplegia'] | TTGCTGACCTTTAACCTCGGGGAAGCCCCCAGGCAGGCCACCGTAGCTAGGAGCTTTGAGCGTGACTTAAGAAAGGCCAAGGCAGAGGAGGTGAGGGCTGGGAGTGATGAGTCCCTTGGGGAGGAGTAGGGCTTTCTTTCCAATGTAGGGTTCTCAGTTGTCCTCGGGGAGCTCGGTGTAGAAAGTGGGAGGTCATCCAGGCAGTGAGAGGCGTGTAGCTGGGCCAGAGTACCCAGACGAGTCAGGAGGGAGGAGGTCTGCTGGCTTTGCCGGGATGAGCAAAGAGCAAGGGGCTCACAGCAGCAGCTGACGATGACCTG... | TTGCTGACCTTTAACCTCGGGGAAGCCCCCAGGCAGGCCACCGTAGCTAGGAGCTTTGAGCGTGACTTAAGAAAGGCCAAGGCAGAGGAGGTGAGGGCTGGGAGTGATGAGTCCCTTGGGGAGGAGTAGGGCTTTCTTTCCAATGTAGGGTTCTCAGTTGTCCTCGGGGAGCTCGGTGTAGAAAGTGGGAGGTCATCCAGGCAGTGAGAGGCGTGTAGCTGGGCCAGAGTACCCAGACGAGTCAGGAGGGAGGAGGTCTGCTGGCTTTGCCGGGATGAGCAAAGAGCAAGGGGCTCACAGCAGCAGCTGACGATGACCTG... | pathogenic | 222,770 |
The chromosome 14, position 67790701 genetic variant in gene ZFYVE26 (zinc finger FYVE-type containing 26): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | TTCTTGAGAGTTCTCCTAGAGAATCACTGAACCTGGGGGTGGACTTGGGGACCCCAGACACATGGGGCTACTCATATCATAACCTATTCACCACTCCTCCCTCTATATTACTAAGGCAGAACAGGTTCCTTTCTCCTCCACTGCTCAGTCCTTCCAATGTTTGGTGCAAGTAGCAAGGACAGGTGTGGGGAGTAGAACGTTGCCTAATTCTACCTTCATATACTGATGCCTTCACATACCTGATTTCTCTAAGAATTCTGTATGCACATTCTGCACTGTTATTCACCTCAAGGTATGATCATCCCTCCAACTGTGACTCA... | TTCTTGAGAGTTCTCCTAGAGAATCACTGAACCTGGGGGTGGACTTGGGGACCCCAGACACATGGGGCTACTCATATCATAACCTATTCACCACTCCTCCCTCTATATTACTAAGGCAGAACAGGTTCCTTTCTCCTCCACTGCTCAGTCCTTCCAATGTTTGGTGCAAGTAGCAAGGACAGGTGTGGGGAGTAGAACGTTGCCTAATTCTACCTTCATATACTGATGCCTTCACATACCTGATTTCTCTAAGAATTCTGTATGCACATTCTGCACTGTTATTCACCTCAAGGTATGATCATCCCTCCAACTGTGACTCA... | pathogenic | 222,794 |
Mutation found at chromosome 14 position 67793710, gene ZFYVE26 (zinc finger FYVE-type containing 26): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | AAAAAAAAAGACCACGGCTCAAGAAAAGGAGGAGAAGTGGAGGACATTTAGGGGTAAAATATCATGGGACTCCTAGCTAAATTCCTCTGGATTTGAGTATTAGAAAGGCTGGGGAGGGGCTGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTCAGGAGGCCAAGGAGGGTGGATCATTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATATAAAAATTAGCCAGGAGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAT... | AAAAAAAAAGACCACGGCTCAAGAAAAGGAGGAGAAGTGGAGGACATTTAGGGGTAAAATATCATGGGACTCCTAGCTAAATTCCTCTGGATTTGAGTATTAGAAAGGCTGGGGAGGGGCTGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTCAGGAGGCCAAGGAGGGTGGATCATTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATATAAAAATTAGCCAGGAGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAT... | pathogenic | 222,800 |
Gene ZFYVE26 (zinc finger FYVE-type containing 26) variant at chromosome position 67797664 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATCCTCATGAATTCCTTTTAATTTTTAAAAGATCAACACCAAAAGCCATAATGAAAACTTGATTCTCTAAAAATTTAATACTCCTGCATAATGCGCCTATATTAACTTCTCTAAGAAAAGCCTATAAGTGGAATCAAAAGGCAAAATAGAGAAAAAAATAATAGCACATGATGAGAAAATATTTTCTGTAATGTATAAAGAGCTTTCTAAAATTGAAGATAAAAGAGATTCCTAAGAGAAAAATGGACCTTAGACATTAGGCAGTTTACAGAAAAATATAAACAGTCAATAAATATGTGAAAAGATATTCAATCTCAAA... | AATCCTCATGAATTCCTTTTAATTTTTAAAAGATCAACACCAAAAGCCATAATGAAAACTTGATTCTCTAAAAATTTAATACTCCTGCATAATGCGCCTATATTAACTTCTCTAAGAAAAGCCTATAAGTGGAATCAAAAGGCAAAATAGAGAAAAAAATAATAGCACATGATGAGAAAATATTTTCTGTAATGTATAAAGAGCTTTCTAAAATTGAAGATAAAAGAGATTCCTAAGAGAAAAATGGACCTTAGACATTAGGCAGTTTACAGAAAAATATAAACAGTCAATAAATATGTGAAAAGATATTCAATCTCAAA... | benign | 222,805 |
Does the chromosome 14 mutation at position 67798147 within gene ZFYVE26 (zinc finger FYVE-type containing 26) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | GTGATTAATGAATATAAAATCAGAGCTGGATGGAGGGATCAGTTCTGCTGTTCTGTAGCACTGCAGGATGAATATGGTTAACTATAATCTATTATATATTCTCAAAAAGCTAGAAGAAAGGATTTTTTTTTTTTTTGAGATGGATTCTCACTCTGTCACCCAGGCTAGAGTCCAGTGGCACAATCTCAGCTCACCCCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGGCTCCCGAGCTGGGCACCCACCACTACACCGAGCTAACTTTCATATTTTTAGTAGAGACAGGGTTTTACTATGTTAGCCAGGC... | GTGATTAATGAATATAAAATCAGAGCTGGATGGAGGGATCAGTTCTGCTGTTCTGTAGCACTGCAGGATGAATATGGTTAACTATAATCTATTATATATTCTCAAAAAGCTAGAAGAAAGGATTTTTTTTTTTTTTGAGATGGATTCTCACTCTGTCACCCAGGCTAGAGTCCAGTGGCACAATCTCAGCTCACCCCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGGCTCCCGAGCTGGGCACCCACCACTACACCGAGCTAACTTTCATATTTTTAGTAGAGACAGGGTTTTACTATGTTAGCCAGGC... | pathogenic | 222,810 |
Does the variant on chromosome 14 at location 67798231 affecting gene ZFYVE26 (zinc finger FYVE-type containing 26) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_15'] | TAATCTATTATATATTCTCAAAAAGCTAGAAGAAAGGATTTTTTTTTTTTTTGAGATGGATTCTCACTCTGTCACCCAGGCTAGAGTCCAGTGGCACAATCTCAGCTCACCCCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGGCTCCCGAGCTGGGCACCCACCACTACACCGAGCTAACTTTCATATTTTTAGTAGAGACAGGGTTTTACTATGTTAGCCAGGCTGGTCTTGAACTCCTTACCTCAAGTGATCCATCTGCCTCAGCCTCCCAGAATGCTGGGATTACAGGTGTGAGCCACCGTGCCAG... | TAATCTATTATATATTCTCAAAAAGCTAGAAGAAAGGATTTTTTTTTTTTTTGAGATGGATTCTCACTCTGTCACCCAGGCTAGAGTCCAGTGGCACAATCTCAGCTCACCCCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGGCTCCCGAGCTGGGCACCCACCACTACACCGAGCTAACTTTCATATTTTTAGTAGAGACAGGGTTTTACTATGTTAGCCAGGCTGGTCTTGAACTCCTTACCTCAAGTGATCCATCTGCCTCAGCCTCCCAGAATGCTGGGATTACAGGTGTGAGCCACCGTGCCAG... | pathogenic | 222,813 |
Variant at chromosome 14, position 67798328, gene ZFYVE26 (zinc finger FYVE-type containing 26): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Spastic_paraplegia'] | AATCTCAGCTCACCCCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGGCTCCCGAGCTGGGCACCCACCACTACACCGAGCTAACTTTCATATTTTTAGTAGAGACAGGGTTTTACTATGTTAGCCAGGCTGGTCTTGAACTCCTTACCTCAAGTGATCCATCTGCCTCAGCCTCCCAGAATGCTGGGATTACAGGTGTGAGCCACCGTGCCAGGCCGAAGAAAGGATTTTGAATGTTCACAACACAAAGAAATGACAAATGTTTGAGGTGATAGATATTACTCCAATTTGGTCATTACACATTTTATAAA... | AATCTCAGCTCACCCCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGGCTCCCGAGCTGGGCACCCACCACTACACCGAGCTAACTTTCATATTTTTAGTAGAGACAGGGTTTTACTATGTTAGCCAGGCTGGTCTTGAACTCCTTACCTCAAGTGATCCATCTGCCTCAGCCTCCCAGAATGCTGGGATTACAGGTGTGAGCCACCGTGCCAGGCCGAAGAAAGGATTTTGAATGTTCACAACACAAAGAAATGACAAATGTTTGAGGTGATAGATATTACTCCAATTTGGTCATTACACATTTTATAAA... | pathogenic | 222,815 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 67798469, gene ZFYVE26 (zinc finger FYVE-type containing 26). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | GTCTTGAACTCCTTACCTCAAGTGATCCATCTGCCTCAGCCTCCCAGAATGCTGGGATTACAGGTGTGAGCCACCGTGCCAGGCCGAAGAAAGGATTTTGAATGTTCACAACACAAAGAAATGACAAATGTTTGAGGTGATAGATATTACTCCAATTTGGTCATTACACATTTTATAAACATATTGAAATATCACTGTGTATCCCTTAAATATGTACAATTATTATATGCCAACTAAAAATAAAAGGGAGGCCGGGCCCGGTGACTCACGCCTGTAATTCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACTTCAGGT... | GTCTTGAACTCCTTACCTCAAGTGATCCATCTGCCTCAGCCTCCCAGAATGCTGGGATTACAGGTGTGAGCCACCGTGCCAGGCCGAAGAAAGGATTTTGAATGTTCACAACACAAAGAAATGACAAATGTTTGAGGTGATAGATATTACTCCAATTTGGTCATTACACATTTTATAAACATATTGAAATATCACTGTGTATCCCTTAAATATGTACAATTATTATATGCCAACTAAAAATAAAAGGGAGGCCGGGCCCGGTGACTCACGCCTGTAATTCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACTTCAGGT... | pathogenic | 222,818 |
Is the variant located on chromosome 14 at position 67804191, gene ZFYVE26 (zinc finger FYVE-type containing 26), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Spastic_paraplegia'] | TTTGCAGTCCTGGCACTGGGAGTGCTGGTGTGAGTTTACACAGAGGGCATAGATGGCATACTTCATGGCACAGAAGCCCTGGTAGAGTGTCAGGTTCTGACACTGGCTCAGGTGCTCAGGGACTGGAGCATCAACTGCATCTGAATTACAAAGAGAAACAGGCTGAACTTGAGAGTTAATTAATTCAGGATGCAAGTATGGGTGAAGCAAAGAGATGCTGTGCCATACTTAGAGGTCCACTTGTAGGTTCTTACCCTCTCTCCTTTCTGTCGGTCTGATCTGTGTCACTTCTAGGGCTTTTCCTCAAGTCAGTATCAACT... | TTTGCAGTCCTGGCACTGGGAGTGCTGGTGTGAGTTTACACAGAGGGCATAGATGGCATACTTCATGGCACAGAAGCCCTGGTAGAGTGTCAGGTTCTGACACTGGCTCAGGTGCTCAGGGACTGGAGCATCAACTGCATCTGAATTACAAAGAGAAACAGGCTGAACTTGAGAGTTAATTAATTCAGGATGCAAGTATGGGTGAAGCAAAGAGATGCTGTGCCATACTTAGAGGTCCACTTGTAGGTTCTTACCCTCTCTCCTTTCTGTCGGTCTGATCTGTGTCACTTCTAGGGCTTTTCCTCAAGTCAGTATCAACT... | pathogenic | 222,825 |
Evaluate if the mutation on chromosome 14 at position 67805542 in ZFYVE26 (zinc finger FYVE-type containing 26) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_15', 'Spastic_paraplegia'] | ACCACACCCGGCTAATTTTTTATATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGCGCCCAGCCCAGGCAAGTCTTTCTTCTAAATCTCCTGATCTGTTATATGGAGTATGAAGTGGACATGGGAGAAAAGGCACAAAACATGCTATCAGAAAGCTTATAAAACATGAAGCCACTCACTAAGAATTTGCATAAACACTGACTAACAATGCTGTGTATTCAGAGGGCAATTTCTAA... | ACCACACCCGGCTAATTTTTTATATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGCGCCCAGCCCAGGCAAGTCTTTCTTCTAAATCTCCTGATCTGTTATATGGAGTATGAAGTGGACATGGGAGAAAAGGCACAAAACATGCTATCAGAAAGCTTATAAAACATGAAGCCACTCACTAAGAATTTGCATAAACACTGACTAACAATGCTGTGTATTCAGAGGGCAATTTCTAA... | pathogenic | 222,829 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 67806695, gene ZFYVE26 (zinc finger FYVE-type containing 26). What disease(s) is it linked to if pathogenic? | benign | TGCTGGTGAAGTGAGTGAAGAACAAGATAGAAACCTAAGTCCAGGCTAAGTTACCAGAGAAACACAGGGCCTCATGCACAGTTCAGTAAGCATTTGTTGAATAAAAGTGTGATCCAGGATAACGTAAGACTAAGAATGTGGATGACATTGTGAGCTGTGTGACTTTGGACAAGTTATTTTATACCTGTGGGCTTCAGTTGCCTGACTTTTATAATGAAGATAATATTGGTATCTACCCATAGGATTATTGTGAGGCTTAATTGAAATCATCCATGTAAAGGGCTTAGAACAATGCCTAGCTTATGGTAAGTGCACTGGAA... | TGCTGGTGAAGTGAGTGAAGAACAAGATAGAAACCTAAGTCCAGGCTAAGTTACCAGAGAAACACAGGGCCTCATGCACAGTTCAGTAAGCATTTGTTGAATAAAAGTGTGATCCAGGATAACGTAAGACTAAGAATGTGGATGACATTGTGAGCTGTGTGACTTTGGACAAGTTATTTTATACCTGTGGGCTTCAGTTGCCTGACTTTTATAATGAAGATAATATTGGTATCTACCCATAGGATTATTGTGAGGCTTAATTGAAATCATCCATGTAAAGGGCTTAGAACAATGCCTAGCTTATGGTAAGTGCACTGGAA... | benign | 222,833 |
The mutation impacting RAD51B (RAD51 paralog B) on chromosome 14 at position 67864961: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TAGTAAAATAGTATGTTCATAATAAATATGCATATATTGGAGGGCTGTACTAAATTTTGTTTTGATTGCTTTTTTTGGCTGGTTTGTTGGGGTATGTGGTCAAATAAGTTTGGAGAACTCTCTTTACTGATCTCTCATAATCTGGCAAGCTATTATTGACAGGAGTAATTATTTATTCTTAAAGTCTAAATGATCATTGTAAAGATTATAAACCAGCATATAGTTTTAAATATGGGAATTTTTTTTTTTTTTTTTTTTTTTTGAGACATGGTCTTGCTTTGTTGCTCTGGCTGGTCTAGAACTCCTGGGCTCAAGTGATT... | TAGTAAAATAGTATGTTCATAATAAATATGCATATATTGGAGGGCTGTACTAAATTTTGTTTTGATTGCTTTTTTTGGCTGGTTTGTTGGGGTATGTGGTCAAATAAGTTTGGAGAACTCTCTTTACTGATCTCTCATAATCTGGCAAGCTATTATTGACAGGAGTAATTATTTATTCTTAAAGTCTAAATGATCATTGTAAAGATTATAAACCAGCATATAGTTTTAAATATGGGAATTTTTTTTTTTTTTTTTTTTTTTTGAGACATGGTCTTGCTTTGTTGCTCTGGCTGGTCTAGAACTCCTGGGCTCAAGTGATT... | benign | 222,860 |
Classify the chromosome 14 variant at position 68893642 affecting gene ACTN1 (actinin alpha 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGTATTTTGCTTATTTGTATCTTTGAAATATACTACCCAAAAAAACCCACAAAACTATTACTTCAATAATAATATTTTTTAACTACTTAAGATTCCATGGAAGTAGAAATCAACTTGACTGCGATTCAATTATGCCCTGTTTGGTTCAGGGTGTCAAAAGCATTGTGTTCATAGGGATGATTTTTTGTGAGAGGGAGGTCTGGAGTAGATGCTCAGGGGTCTGGAAGGGCAAGCCTGACCCAGAATGGTCTGGGCAGAGGGGGCTGCCCCACATGGCCGAGTTTGGGATTGAGCCTGGGTGGTAACTGGAAGGGGGAAGT... | TGTATTTTGCTTATTTGTATCTTTGAAATATACTACCCAAAAAAACCCACAAAACTATTACTTCAATAATAATATTTTTTAACTACTTAAGATTCCATGGAAGTAGAAATCAACTTGACTGCGATTCAATTATGCCCTGTTTGGTTCAGGGTGTCAAAAGCATTGTGTTCATAGGGATGATTTTTTGTGAGAGGGAGGTCTGGAGTAGATGCTCAGGGGTCTGGAAGGGCAAGCCTGACCCAGAATGGTCTGGGCAGAGGGGGCTGCCCCACATGGCCGAGTTTGGGATTGAGCCTGGGTGGTAACTGGAAGGGGGAAGT... | benign | 222,907 |
The genetic variant at chromosome 14, position 73671555, affecting gene DNAL1 (dynein axonemal light chain 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_16'] | CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCTAAATTTTTTATTTTTTATTTTTTATTTTTATTTCTGTAAAGGCAGAGTCTTTCTATGTTGCCCAGGCTGGTCTCGAACTTCTGGCATCAAATGATACTCCCACTTCACCTTCTCAAAGTGCTGGGATAATTGGCATAAGCTACAATGCCTGGCCCAATTACCTCTTTACAGGCTCTGTCTCCAAATGCAGTCCTATTCTGATACTAGGGATTAGGATTTAAAGATATGAATTTTCCGGGGGACACAGTTCA... | CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCTAAATTTTTTATTTTTTATTTTTTATTTTTATTTCTGTAAAGGCAGAGTCTTTCTATGTTGCCCAGGCTGGTCTCGAACTTCTGGCATCAAATGATACTCCCACTTCACCTTCTCAAAGTGCTGGGATAATTGGCATAAGCTACAATGCCTGGCCCAATTACCTCTTTACAGGCTCTGTCTCCAAATGCAGTCCTATTCTGATACTAGGGATTAGGATTTAAAGATATGAATTTTCCGGGGGACACAGTTCA... | pathogenic | 223,127 |
Does the variant impacting ENTPD5 on chromosome 14, position 73961512, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | CAGCAGAGCTAGTTAGCATGGATGAGGAAAAATTTGTGGATGCCGTTAACTCTGCCTTTGTGAGTATCAATTTACCCAGCTGATGATGTGCTGCAGGGGGAGATACAGAAAGGTGTTGTTTTTTTTTTTTTGAAACGGATCCTTGCCAGGCTGGAGCGCAGTGGCGCGATCTTGGCTCACTGTGCAATCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTCTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCT... | CAGCAGAGCTAGTTAGCATGGATGAGGAAAAATTTGTGGATGCCGTTAACTCTGCCTTTGTGAGTATCAATTTACCCAGCTGATGATGTGCTGCAGGGGGAGATACAGAAAGGTGTTGTTTTTTTTTTTTTGAAACGGATCCTTGCCAGGCTGGAGCGCAGTGGCGCGATCTTGGCTCACTGTGCAATCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTCTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCT... | pathogenic | 223,190 |
The mutation in gene ALDH6A1 at chromosome 14, position 74067571—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCAAGTGTATTCCGTCTTCCAAGTTACCAATCATATAAACAACTTGGAATTCCTATCAACAATAACCACACTTCCTTTAAGGGACTGTATCTTTAGTTCATGACCCATCATCAGCTGCCTTTTTAATACCTGAACGACTAGTTTCATCCAATTGTTATCAAAAAGTTACATGAAAATTTATTTTTTATAAATCCAATCTATAGTAAATATACCAGGATAATTTTTCTCTTTACAGAAACCCCATGCTGTTTTCTGTAACATAAATAATCCATTCTTATTCACTCCTTTGCCTCCCAAATATGTCTGTATGTTTATATTTT... | TCAAGTGTATTCCGTCTTCCAAGTTACCAATCATATAAACAACTTGGAATTCCTATCAACAATAACCACACTTCCTTTAAGGGACTGTATCTTTAGTTCATGACCCATCATCAGCTGCCTTTTTAATACCTGAACGACTAGTTTCATCCAATTGTTATCAAAAAGTTACATGAAAATTTATTTTTTATAAATCCAATCTATAGTAAATATACCAGGATAATTTTTCTCTTTACAGAAACCCCATGCTGTTTTCTGTAACATAAATAATCCATTCTTATTCACTCCTTTGCCTCCCAAATATGTCTGTATGTTTATATTTT... | benign | 223,223 |
Mutation at chromosome 14, position 74072618, within ALDH6A1: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CAGACACTATTGTGTTCTCATGTAAGAGGTAATATAGTGTAGTTTTTAAAAGCAAAAATCAGAGTCAGCCTTCCTGGATGGGTATACACATCCTGGCTTTTTCTAGCACTGTGACTTTGGGCTAATTAATTTCACTATGTCTCATTTTTCTCTTCTGCAAAATGGAAAAATAATACCTACCTCAAAGGGTGATTATAAAGATTAATAGATAAAAAGCACTAGGAACGGTGCCTGAAACACAGAAGCACTATTTAAGTATTAGCTATTATTACATGAATTAGAAGGCCTTCAGTATCTCTGAGATCTGCAAATTCTCTGAA... | CAGACACTATTGTGTTCTCATGTAAGAGGTAATATAGTGTAGTTTTTAAAAGCAAAAATCAGAGTCAGCCTTCCTGGATGGGTATACACATCCTGGCTTTTTCTAGCACTGTGACTTTGGGCTAATTAATTTCACTATGTCTCATTTTTCTCTTCTGCAAAATGGAAAAATAATACCTACCTCAAAGGGTGATTATAAAGATTAATAGATAAAAAGCACTAGGAACGGTGCCTGAAACACAGAAGCACTATTTAAGTATTAGCTATTATTACATGAATTAGAAGGCCTTCAGTATCTCTGAGATCTGCAAATTCTCTGAA... | benign | 223,231 |
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