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 |
|---|---|---|---|---|---|
The mutation in gene SLC17A8 (solute carrier family 17 member 8) at chromosome 12, position 100418011—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAATAAACATAGATGTCAGGGAAGACTGACTGGCACAATTTAGGAGCTGATTATAGACAAGACTGCTGAGATAGATGAAGTTAAAAATAGGCAAGAGATGAGTGATGCCTGTTTTGGGAAATGTCCTATACAGAAGATAGATTCTCTCAGTTTATGTGTAATTTTTTTATCTGCTATAAAAATCTATCAATATCTCAATTTCTCAGTGATTTTCCCCCCTCCCCAAATGTCAGGATTGTGCAGCTAGAAACCTAAATGGCTTTTCCCACATTATCTTTAGCTGAATGCAGATGCCCAGGCTTTGTATCAGAGCATAATAC... | GAATAAACATAGATGTCAGGGAAGACTGACTGGCACAATTTAGGAGCTGATTATAGACAAGACTGCTGAGATAGATGAAGTTAAAAATAGGCAAGAGATGAGTGATGCCTGTTTTGGGAAATGTCCTATACAGAAGATAGATTCTCTCAGTTTATGTGTAATTTTTTTATCTGCTATAAAAATCTATCAATATCTCAATTTCTCAGTGATTTTCCCCCCTCCCCAAATGTCAGGATTGTGCAGCTAGAAACCTAAATGGCTTTTCCCACATTATCTTTAGCTGAATGCAGATGCCCAGGCTTTGTATCAGAGCATAATAC... | benign | 201,085 |
Does the variant on chromosome 12 at location 101629407 affecting gene MYBPC1 (myosin binding protein C1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCAAGCTGGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGACTGGTCTCGAACACCTGACCTCAAGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCGCCCCCAGCTGGGATTTTTTAATTTTTCTATCATTTTAAAATAAGACACACACTTTTATAGATGCTTTCATACTTGGAGCTCTACTGATTTTCCATCCAAGCCAACTTGTAGGGTTTTTTCCTTCCTATCACCAGAGGAGACAGGG... | CAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCAAGCTGGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGACTGGTCTCGAACACCTGACCTCAAGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCGCCCCCAGCTGGGATTTTTTAATTTTTCTATCATTTTAAAATAAGACACACACTTTTATAGATGCTTTCATACTTGGAGCTCTACTGATTTTCCATCCAAGCCAACTTGTAGGGTTTTTTCCTTCCTATCACCAGAGGAGACAGGG... | benign | 201,146 |
Variant on chromosome 12, at position 101653096, affecting MYBPC1 (myosin binding protein C1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAGGAATGAAATTGTACAGAATCAAATGTGAAATTATCCTCTAATATATTAATTGCATTGGTACAGCTTCTCACTTTCAAAACAAACATTGTAGTAGAGCTCACTATACCATTGTGAAATGCCACCATCTTGGCCTGTTGGGAGTTTGGGCTTGGCATTTGTGATGGTCTATCATTTCTACAGTGAAACCTCTGAAGATTTTGACACCTCTGACTGATCAGACTGTAAATCTTGGAAAAGAAATCTGCCTGAAGTGTGAAATCTCTGAAAACATACCAGGAAAATGGACTAAAAATGGCCTACCTGTTCAGGAGAGTGAC... | AAGGAATGAAATTGTACAGAATCAAATGTGAAATTATCCTCTAATATATTAATTGCATTGGTACAGCTTCTCACTTTCAAAACAAACATTGTAGTAGAGCTCACTATACCATTGTGAAATGCCACCATCTTGGCCTGTTGGGAGTTTGGGCTTGGCATTTGTGATGGTCTATCATTTCTACAGTGAAACCTCTGAAGATTTTGACACCTCTGACTGATCAGACTGTAAATCTTGGAAAAGAAATCTGCCTGAAGTGTGAAATCTCTGAAAACATACCAGGAAAATGGACTAAAAATGGCCTACCTGTTCAGGAGAGTGAC... | benign | 201,181 |
Does the variant on chromosome 12 at location 101731674 affecting gene SYCP3 (synaptonemal complex protein 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATAAAAATTATGTCTTACGTCTTTATTATTCATTCAACAAACAGTTAATCTGGTGCCTACTATGTAAAAGGTGTGTATTAAGTGCTGTAGAGAAATTAAAAAACAATAATACATGATTGCTTCCTGATGGCAATGAGAAAAAAACATAGGAACAAAACAAAAATTTTATAATAGGAATGGAAGCACAACTTGCTGTGGTGATATAGTGGAAAATGGGGATTAATTCCAATTTAGTGGGCAAAATACTAAGATTTCAATAGATAAAGAAAAAGGAGTTAAATATATTCTAGGGGAAGGGCATAAGCAGAAGCATGGAAGTA... | ATAAAAATTATGTCTTACGTCTTTATTATTCATTCAACAAACAGTTAATCTGGTGCCTACTATGTAAAAGGTGTGTATTAAGTGCTGTAGAGAAATTAAAAAACAATAATACATGATTGCTTCCTGATGGCAATGAGAAAAAAACATAGGAACAAAACAAAAATTTTATAATAGGAATGGAAGCACAACTTGCTGTGGTGATATAGTGGAAAATGGGGATTAATTCCAATTTAGTGGGCAAAATACTAAGATTTCAATAGATAAAGAAAAAGGAGTTAAATATATTCTAGGGGAAGGGCATAAGCAGAAGCATGGAAGTA... | benign | 201,224 |
Gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) variant at chromosome 12, position 101753412—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | CACAATTTGCCTGGTATCTGTCTCCCTGGATAGACTGTGAGCATCTCAAGGCCTGGTACCACATGCCTTTCATCTTAGTATTCCTAGCACCTGGCACAGAGAGGCAAGCAAAGGGTCAAAAATCTTCCTAAACTGAAAGATAAAATTATCTTTATAATTAAATGTTGGCAATGGCAGTAGAATGAAAGATGAAGAAAACTTATAAAGCAGCTTTGGAATATAGTGGAATGTGCAGAGGACTGGGAGTCAGGCTGGATCAGCCACTTGCCAGCTACTTCAGCTGGAGCAAGTTACTCAACTCACATTACTATGTTCTCATC... | CACAATTTGCCTGGTATCTGTCTCCCTGGATAGACTGTGAGCATCTCAAGGCCTGGTACCACATGCCTTTCATCTTAGTATTCCTAGCACCTGGCACAGAGAGGCAAGCAAAGGGTCAAAAATCTTCCTAAACTGAAAGATAAAATTATCTTTATAATTAAATGTTGGCAATGGCAGTAGAATGAAAGATGAAGAAAACTTATAAAGCAGCTTTGGAATATAGTGGAATGTGCAGAGGACTGGGAGTCAGGCTGGATCAGCCACTTGCCAGCTACTTCAGCTGGAGCAAGTTACTCAACTCACATTACTATGTTCTCATC... | pathogenic | 201,241 |
Gene mutation in GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) at chromosome 12, position 101753469—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['GNPTAB-related_disorder', 'Inborn_genetic_diseases', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | ACCACATGCCTTTCATCTTAGTATTCCTAGCACCTGGCACAGAGAGGCAAGCAAAGGGTCAAAAATCTTCCTAAACTGAAAGATAAAATTATCTTTATAATTAAATGTTGGCAATGGCAGTAGAATGAAAGATGAAGAAAACTTATAAAGCAGCTTTGGAATATAGTGGAATGTGCAGAGGACTGGGAGTCAGGCTGGATCAGCCACTTGCCAGCTACTTCAGCTGGAGCAAGTTACTCAACTCACATTACTATGTTCTCATCTGCAACATGGCAATAACAATACTTTTAATTGTAGAGAGTAAATATCTTGCCCAGTAC... | ACCACATGCCTTTCATCTTAGTATTCCTAGCACCTGGCACAGAGAGGCAAGCAAAGGGTCAAAAATCTTCCTAAACTGAAAGATAAAATTATCTTTATAATTAAATGTTGGCAATGGCAGTAGAATGAAAGATGAAGAAAACTTATAAAGCAGCTTTGGAATATAGTGGAATGTGCAGAGGACTGGGAGTCAGGCTGGATCAGCCACTTGCCAGCTACTTCAGCTGGAGCAAGTTACTCAACTCACATTACTATGTTCTCATCTGCAACATGGCAATAACAATACTTTTAATTGTAGAGAGTAAATATCTTGCCCAGTAC... | pathogenic | 201,243 |
Is the chromosome 12, position 101753527 variant in GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TCAAAAATCTTCCTAAACTGAAAGATAAAATTATCTTTATAATTAAATGTTGGCAATGGCAGTAGAATGAAAGATGAAGAAAACTTATAAAGCAGCTTTGGAATATAGTGGAATGTGCAGAGGACTGGGAGTCAGGCTGGATCAGCCACTTGCCAGCTACTTCAGCTGGAGCAAGTTACTCAACTCACATTACTATGTTCTCATCTGCAACATGGCAATAACAATACTTTTAATTGTAGAGAGTAAATATCTTGCCCAGTACAGTGTTTGGCGTACAACAGGTTCTCAAGAAAAAGGGTAGCTACTCTGACGGCAGTGAT... | TCAAAAATCTTCCTAAACTGAAAGATAAAATTATCTTTATAATTAAATGTTGGCAATGGCAGTAGAATGAAAGATGAAGAAAACTTATAAAGCAGCTTTGGAATATAGTGGAATGTGCAGAGGACTGGGAGTCAGGCTGGATCAGCCACTTGCCAGCTACTTCAGCTGGAGCAAGTTACTCAACTCACATTACTATGTTCTCATCTGCAACATGGCAATAACAATACTTTTAATTGTAGAGAGTAAATATCTTGCCCAGTACAGTGTTTGGCGTACAACAGGTTCTCAAGAAAAAGGGTAGCTACTCTGACGGCAGTGAT... | pathogenic | 201,244 |
Does the variant on chromosome 12 at location 101757580 affecting gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | ACCAATGTTAAAGTTCTAGAATGTGTTAATGGTCTGTGGCCTGATGATGAAGCCATCACAAGCAGAGCTAAGAAATTCAGAGAAAAACAAAGCCTGGAGATTGTCTATCCCAGACTCCCTGTTAACGGGATAAACATGTCCTTAAAGCTGAAGTCAGTCTGAAGTCTAGTTTTCCATGCCTGACTTAAAATAAGCCTTCGTCGAAATAAAACAAAACAACATAAACAAGGGTTAATGATAAAATCTGTTCAGGTACACAAGAGGCAGCTGGGCCTGGCAAACTGTGGAAAAAGCCTGGCTTGCCATGTGTCTTTTTACTA... | ACCAATGTTAAAGTTCTAGAATGTGTTAATGGTCTGTGGCCTGATGATGAAGCCATCACAAGCAGAGCTAAGAAATTCAGAGAAAAACAAAGCCTGGAGATTGTCTATCCCAGACTCCCTGTTAACGGGATAAACATGTCCTTAAAGCTGAAGTCAGTCTGAAGTCTAGTTTTCCATGCCTGACTTAAAATAAGCCTTCGTCGAAATAAAACAAAACAACATAAACAAGGGTTAATGATAAAATCTGTTCAGGTACACAAGAGGCAGCTGGGCCTGGCAAACTGTGGAAAAAGCCTGGCTTGCCATGTGTCTTTTTACTA... | pathogenic | 201,252 |
Is the genetic change at chromosome 12, position 101761167, within gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TTTGGGATGCTAAGGCAGGCGTATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCGGCCTGGGTGAAAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGATTACTTTGTGAAAAAGAGCCCTGAAAATAAAGCTTAAAAAAAAAAAAAAAGAAT... | TTTGGGATGCTAAGGCAGGCGTATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCGGCCTGGGTGAAAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGATTACTTTGTGAAAAAGAGCCCTGAAAATAAAGCTTAAAAAAAAAAAAAAAGAAT... | pathogenic | 201,257 |
Chromosome 12, position 101761554, gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mucolipidosis_type_II'] | CAATTCTATGATTTTCTTCACATTATAACCTCTCTGAAACTAAAATGTCTCTTATAATCTATACTCTTTCAATTATTTCAGCCAAATGACATTCCAATGCAGTCGTGTGTTAATCACCCACTGCCCCTACTGGTAAAATGGAGTAAGTGCCAGCATTAAAGCAATTCAGCTTTGATGAACGATGATATTCCATGTGATGAATATTTCCTTGATGGTTAAACCTCAGGATTGTTCTCTCTGGCCAATGAGAATACTCTGGGGCTATTTTCTGTCACCCTTAGTAAACAGGACATCCGCTTATGGAATATAAGCAACAAATC... | CAATTCTATGATTTTCTTCACATTATAACCTCTCTGAAACTAAAATGTCTCTTATAATCTATACTCTTTCAATTATTTCAGCCAAATGACATTCCAATGCAGTCGTGTGTTAATCACCCACTGCCCCTACTGGTAAAATGGAGTAAGTGCCAGCATTAAAGCAATTCAGCTTTGATGAACGATGATATTCCATGTGATGAATATTTCCTTGATGGTTAAACCTCAGGATTGTTCTCTCTGGCCAATGAGAATACTCTGGGGCTATTTTCTGTCACCCTTAGTAAACAGGACATCCGCTTATGGAATATAAGCAACAAATC... | pathogenic | 201,263 |
Is the genetic change at chromosome 12, position 101761609, within gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | AATCTATACTCTTTCAATTATTTCAGCCAAATGACATTCCAATGCAGTCGTGTGTTAATCACCCACTGCCCCTACTGGTAAAATGGAGTAAGTGCCAGCATTAAAGCAATTCAGCTTTGATGAACGATGATATTCCATGTGATGAATATTTCCTTGATGGTTAAACCTCAGGATTGTTCTCTCTGGCCAATGAGAATACTCTGGGGCTATTTTCTGTCACCCTTAGTAAACAGGACATCCGCTTATGGAATATAAGCAACAAATCCAAATTACGCATCTATGGGGTGAACAGTAAGATTCCAAAGCAAGCTATGAATGAT... | AATCTATACTCTTTCAATTATTTCAGCCAAATGACATTCCAATGCAGTCGTGTGTTAATCACCCACTGCCCCTACTGGTAAAATGGAGTAAGTGCCAGCATTAAAGCAATTCAGCTTTGATGAACGATGATATTCCATGTGATGAATATTTCCTTGATGGTTAAACCTCAGGATTGTTCTCTCTGGCCAATGAGAATACTCTGGGGCTATTTTCTGTCACCCTTAGTAAACAGGACATCCGCTTATGGAATATAAGCAACAAATCCAAATTACGCATCTATGGGGTGAACAGTAAGATTCCAAAGCAAGCTATGAATGAT... | pathogenic | 201,265 |
Determine if the mutation at chromosome 12, position 101761720 in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | CAGCTTTGATGAACGATGATATTCCATGTGATGAATATTTCCTTGATGGTTAAACCTCAGGATTGTTCTCTCTGGCCAATGAGAATACTCTGGGGCTATTTTCTGTCACCCTTAGTAAACAGGACATCCGCTTATGGAATATAAGCAACAAATCCAAATTACGCATCTATGGGGTGAACAGTAAGATTCCAAAGCAAGCTATGAATGATTCGGATTACCTGTGCTACTGTTTTGCAACAAAGACATATAAAACCATAGAGCCTGCTGCTAGTTCTGAAGTGCTATACAGAAATGCTGTAAGTAACACTTGATAAGGATGT... | CAGCTTTGATGAACGATGATATTCCATGTGATGAATATTTCCTTGATGGTTAAACCTCAGGATTGTTCTCTCTGGCCAATGAGAATACTCTGGGGCTATTTTCTGTCACCCTTAGTAAACAGGACATCCGCTTATGGAATATAAGCAACAAATCCAAATTACGCATCTATGGGGTGAACAGTAAGATTCCAAAGCAAGCTATGAATGATTCGGATTACCTGTGCTACTGTTTTGCAACAAAGACATATAAAACCATAGAGCCTGCTGCTAGTTCTGAAGTGCTATACAGAAATGCTGTAAGTAACACTTGATAAGGATGT... | pathogenic | 201,266 |
Variant on chromosome 12, at position 101764223, affecting GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TAAGCGCAAGGACTAGAAACAAATTTGGTTTCATCTTATAATAGTTTTAATATTATAAAATCAAAACCAGTCAGTGGCAGAACTAAATAGGCAAAGAAAATTGGCAAAGCATTCAAACACTTTACAGAAATATTTTTGCTTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAAC... | TAAGCGCAAGGACTAGAAACAAATTTGGTTTCATCTTATAATAGTTTTAATATTATAAAATCAAAACCAGTCAGTGGCAGAACTAAATAGGCAAAGAAAATTGGCAAAGCATTCAAACACTTTACAGAAATATTTTTGCTTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAAC... | pathogenic | 201,269 |
Mutation found at chromosome 12 position 101764223, gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TAAGCGCAAGGACTAGAAACAAATTTGGTTTCATCTTATAATAGTTTTAATATTATAAAATCAAAACCAGTCAGTGGCAGAACTAAATAGGCAAAGAAAATTGGCAAAGCATTCAAACACTTTACAGAAATATTTTTGCTTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAAC... | TAAGCGCAAGGACTAGAAACAAATTTGGTTTCATCTTATAATAGTTTTAATATTATAAAATCAAAACCAGTCAGTGGCAGAACTAAATAGGCAAAGAAAATTGGCAAAGCATTCAAACACTTTACAGAAATATTTTTGCTTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAAC... | pathogenic | 201,270 |
Variant in GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), chromosome 12, position 101764299—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | GCAGAACTAAATAGGCAAAGAAAATTGGCAAAGCATTCAAACACTTTACAGAAATATTTTTGCTTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAACTCACTGAAATGTAAGATATATGTACAAGAGAATTCACTGCAACACTATTTGTAATCACAAAACATTGGAAATAACT... | GCAGAACTAAATAGGCAAAGAAAATTGGCAAAGCATTCAAACACTTTACAGAAATATTTTTGCTTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAACTCACTGAAATGTAAGATATATGTACAAGAGAATTCACTGCAACACTATTTGTAATCACAAAACATTGGAAATAACT... | pathogenic | 201,273 |
Is the variant located on chromosome 12 at position 101764341, gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | ACTTTACAGAAATATTTTTGCTTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAACTCACTGAAATGTAAGATATATGTACAAGAGAATTCACTGCAACACTATTTGTAATCACAAAACATTGGAAATAACTAACCTGCAGCCATTAAAAAGAATAATGGCACTGGCATGGGTA... | ACTTTACAGAAATATTTTTGCTTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAACTCACTGAAATGTAAGATATATGTACAAGAGAATTCACTGCAACACTATTTGTAATCACAAAACATTGGAAATAACTAACCTGCAGCCATTAAAAAGAATAATGGCACTGGCATGGGTA... | pathogenic | 201,276 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 101764362, gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): what disease(s) if pathogenic? | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAACTCACTGAAATGTAAGATATATGTACAAGAGAATTCACTGCAACACTATTTGTAATCACAAAACATTGGAAATAACTAACCTGCAGCCATTAAAAAGAATAATGGCACTGGCATGGGTATAAATAAATAAATAAATAATG... | TTCTCAAACTGATAAAAATAAAAATGTAAGGAGACTGATATTAACTGGTGTTGGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAACTCACTGAAATGTAAGATATATGTACAAGAGAATTCACTGCAACACTATTTGTAATCACAAAACATTGGAAATAACTAACCTGCAGCCATTAAAAAGAATAATGGCACTGGCATGGGTATAAATAAATAAATAAATAATG... | pathogenic | 201,277 |
Gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) variant at chromosome position 101764414 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | GGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAACTCACTGAAATGTAAGATATATGTACAAGAGAATTCACTGCAACACTATTTGTAATCACAAAACATTGGAAATAACTAACCTGCAGCCATTAAAAAGAATAATGGCACTGGCATGGGTATAAATAAATAAATAAATAATGGCATTTGCCCACATCCTACTACATCAAAAGGCAACTGCAGGGAAATATATGT... | GGTTAGACTGCAGTGAAACAAGCACTGTTGTATACTGTTTGTGGAAATATGAAGTGGTGCAACATTTCAGAAAGACATATTTAAAGTTTATACCTGCTAAGCTAGTAATTCTACCTGCAGAACTAAAACTCACTGAAATGTAAGATATATGTACAAGAGAATTCACTGCAACACTATTTGTAATCACAAAACATTGGAAATAACTAACCTGCAGCCATTAAAAAGAATAATGGCACTGGCATGGGTATAAATAAATAAATAAATAATGGCATTTGCCCACATCCTACTACATCAAAAGGCAACTGCAGGGAAATATATGT... | pathogenic | 201,278 |
The mutation impacting GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) on chromosome 12 at position 101764844: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | ATTATCTCCGGGAAGGAGACTGAAGAAGGAAGAACTTTCCTTTATTTACTGTATATTTTTGAATTGTTTGCAATTTTTACTACTAGCCTATAATGCTTTTGTAAATTTAAAAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCA... | ATTATCTCCGGGAAGGAGACTGAAGAAGGAAGAACTTTCCTTTATTTACTGTATATTTTTGAATTGTTTGCAATTTTTACTACTAGCCTATAATGCTTTTGTAAATTTAAAAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCA... | pathogenic | 201,283 |
Variant chromosome 12, position 101764859, gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): benign or pathogenic? Disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'Mucolipidosis_type_II', 'Mucopolysaccharidosis,_MPS-III-A', 'Pseudo-Hurler_polydystrophy'] | GAGACTGAAGAAGGAAGAACTTTCCTTTATTTACTGTATATTTTTGAATTGTTTGCAATTTTTACTACTAGCCTATAATGCTTTTGTAAATTTAAAAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGG... | GAGACTGAAGAAGGAAGAACTTTCCTTTATTTACTGTATATTTTTGAATTGTTTGCAATTTTTACTACTAGCCTATAATGCTTTTGTAAATTTAAAAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGG... | pathogenic | 201,284 |
Regarding the variant found on chromosome 12 at position 101764880 in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TTCCTTTATTTACTGTATATTTTTGAATTGTTTGCAATTTTTACTACTAGCCTATAATGCTTTTGTAAATTTAAAAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAG... | TTCCTTTATTTACTGTATATTTTTGAATTGTTTGCAATTTTTACTACTAGCCTATAATGCTTTTGTAAATTTAAAAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAG... | pathogenic | 201,285 |
Variant in GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), chromosome 12, position 101764954—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Abnormality_of_metabolism/homeostasis', 'GNPTAB-related_disorder', 'Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | AAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAAAGAGCGAAACTCCATCTCAAAA... | AAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAAAGAGCGAAACTCCATCTCAAAA... | pathogenic | 201,288 |
Located at chromosome 12 position 101764956, the variant affecting gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | AAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAAAGAGCGAAACTCCATCTCAAAAAA... | AAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAAAGAGCGAAACTCCATCTCAAAAAA... | pathogenic | 201,289 |
A genetic alteration at chromosome 12, position 101764985, in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAGGAAAGGAAAGAAAA... | GAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAGGAAAGGAAAGAAAA... | benign | 201,291 |
Considering the variant on chromosome 12, location 101765010, involving gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAGGAAAGGAAAGAAAATGGGGGAAACTGAGGAAATAAACAT... | TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAGGAAAGGAAAGAAAATGGGGGAAACTGAGGAAATAAACAT... | pathogenic | 201,294 |
A mutation at chromosome position 101766121 on chromosome 12 in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TGTAAGAAAAGCATTTAGTTCCATGGCCGGCACAGGGAAGTGCTGAATAAATGGTAGCTATAATGATATTATCATGAGATTATTTACTCTTCCTGAGCATGAGAAAGAATGAGGCTGGATGTTACTTACGTCGAGAAGATCTTGGAAATACTTTTTTTTCTCCCATGGCAAAAAGCCCAAGTAACTATCTGTGTAATGCTGCAGCTTTCTTCCAAGTAACACTTCAGTAACGCCTATGTGATTTTCAGCATTTTCCTCCATTCTACTGTTCTCTTTTTCTTTCCCTGTGATTTTCTTTTCTTTTGTCATCTGGCTTTCCA... | TGTAAGAAAAGCATTTAGTTCCATGGCCGGCACAGGGAAGTGCTGAATAAATGGTAGCTATAATGATATTATCATGAGATTATTTACTCTTCCTGAGCATGAGAAAGAATGAGGCTGGATGTTACTTACGTCGAGAAGATCTTGGAAATACTTTTTTTTCTCCCATGGCAAAAAGCCCAAGTAACTATCTGTGTAATGCTGCAGCTTTCTTCCAAGTAACACTTCAGTAACGCCTATGTGATTTTCAGCATTTTCCTCCATTCTACTGTTCTCTTTTTCTTTCCCTGTGATTTTCTTTTCTTTTGTCATCTGGCTTTCCA... | pathogenic | 201,300 |
A genetic variant at chromosome 12, position 101768045, affecting gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TCATTATTTTAAATAACAAAAGCCATTCAAAACTCTCTCTACCTGTCAAGGATGTTTTATGCTCCCATTCTTATTTGTTTGGCAGTAAACATACCTTGCCCACAGTCGCCAGCATCAAACCCACAGGACAAGACATTGCATGCTTGGTCACAGAACTTATCAGCGAGCCAGGAATTCGCACATCCCTGATTACAGTAAGAGACACTGTTTATTCCTCCACCAAACTGCCAGGGCTGTCCAACTCCAATACTCCCAGTACCTCCACCTCCTGCAATATAGCGACTCCCTCCACTGTTTCCTGTAGATCGGAGGAAGAAGAG... | TCATTATTTTAAATAACAAAAGCCATTCAAAACTCTCTCTACCTGTCAAGGATGTTTTATGCTCCCATTCTTATTTGTTTGGCAGTAAACATACCTTGCCCACAGTCGCCAGCATCAAACCCACAGGACAAGACATTGCATGCTTGGTCACAGAACTTATCAGCGAGCCAGGAATTCGCACATCCCTGATTACAGTAAGAGACACTGTTTATTCCTCCACCAAACTGCCAGGGCTGTCCAACTCCAATACTCCCAGTACCTCCACCTCCTGCAATATAGCGACTCCCTCCACTGTTTCCTGTAGATCGGAGGAAGAAGAG... | pathogenic | 201,309 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 101768113, gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II'] | TCTTATTTGTTTGGCAGTAAACATACCTTGCCCACAGTCGCCAGCATCAAACCCACAGGACAAGACATTGCATGCTTGGTCACAGAACTTATCAGCGAGCCAGGAATTCGCACATCCCTGATTACAGTAAGAGACACTGTTTATTCCTCCACCAAACTGCCAGGGCTGTCCAACTCCAATACTCCCAGTACCTCCACCTCCTGCAATATAGCGACTCCCTCCACTGTTTCCTGTAGATCGGAGGAAGAAGAGGGATTCTTGCTGTAATTACAATTTTGAAAGACAGTTCTGGACTGGGTGTGGTGGCTGACGCCTGTAAT... | TCTTATTTGTTTGGCAGTAAACATACCTTGCCCACAGTCGCCAGCATCAAACCCACAGGACAAGACATTGCATGCTTGGTCACAGAACTTATCAGCGAGCCAGGAATTCGCACATCCCTGATTACAGTAAGAGACACTGTTTATTCCTCCACCAAACTGCCAGGGCTGTCCAACTCCAATACTCCCAGTACCTCCACCTCCTGCAATATAGCGACTCCCTCCACTGTTTCCTGTAGATCGGAGGAAGAAGAGGGATTCTTGCTGTAATTACAATTTTGAAAGACAGTTCTGGACTGGGTGTGGTGGCTGACGCCTGTAAT... | pathogenic | 201,310 |
Is the genetic change at chromosome 12, position 101770466, within gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TCATGGATTAGTCTCTCATAACATGCTTTGATAATCTACTATGAAATAAAGTAGCACCATGCCAGACTTGACTGCAAGTACCAAAGCATGTCAAAGCTGGTGGGAAGTATGCACAGTCACTGCTTTTCTGTAACTATCAGTAGCTCATTAGTGTATTTGTGCATAATCTTGTCTCAAGGCTGAGAGACAATATCCTCTCTCTTCAAGCTTAAGGCCCTGTGATAAATTAACTGGCATAGCATTCTGAGCTGTGCATTCACCTGCTCTCAGAATTAGTGATGGGGTACATGGTTTTTCAAATTTAAAATCATTGAAAAAAA... | TCATGGATTAGTCTCTCATAACATGCTTTGATAATCTACTATGAAATAAAGTAGCACCATGCCAGACTTGACTGCAAGTACCAAAGCATGTCAAAGCTGGTGGGAAGTATGCACAGTCACTGCTTTTCTGTAACTATCAGTAGCTCATTAGTGTATTTGTGCATAATCTTGTCTCAAGGCTGAGAGACAATATCCTCTCTCTTCAAGCTTAAGGCCCTGTGATAAATTAACTGGCATAGCATTCTGAGCTGTGCATTCACCTGCTCTCAGAATTAGTGATGGGGTACATGGTTTTTCAAATTTAAAATCATTGAAAAAAA... | pathogenic | 201,318 |
Evaluate if the mutation on chromosome 12 at position 101770498 in GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | AATCTACTATGAAATAAAGTAGCACCATGCCAGACTTGACTGCAAGTACCAAAGCATGTCAAAGCTGGTGGGAAGTATGCACAGTCACTGCTTTTCTGTAACTATCAGTAGCTCATTAGTGTATTTGTGCATAATCTTGTCTCAAGGCTGAGAGACAATATCCTCTCTCTTCAAGCTTAAGGCCCTGTGATAAATTAACTGGCATAGCATTCTGAGCTGTGCATTCACCTGCTCTCAGAATTAGTGATGGGGTACATGGTTTTTCAAATTTAAAATCATTGAAAAAAAATACACTCCTCTTTAAAAATCTCTGTGCCTTT... | AATCTACTATGAAATAAAGTAGCACCATGCCAGACTTGACTGCAAGTACCAAAGCATGTCAAAGCTGGTGGGAAGTATGCACAGTCACTGCTTTTCTGTAACTATCAGTAGCTCATTAGTGTATTTGTGCATAATCTTGTCTCAAGGCTGAGAGACAATATCCTCTCTCTTCAAGCTTAAGGCCCTGTGATAAATTAACTGGCATAGCATTCTGAGCTGTGCATTCACCTGCTCTCAGAATTAGTGATGGGGTACATGGTTTTTCAAATTTAAAATCATTGAAAAAAAATACACTCCTCTTTAAAAATCTCTGTGCCTTT... | pathogenic | 201,320 |
Is chromosome 12, position 101780173, gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TAGTTTGCTGAATTGTCAACCATGACTCGGGACTGGCATTCTCTGGCAGCACACACCCATCCACCAGTAGACGCATGAGAGCAGTCCGCACTGGTGGGCAGCTGCAGCAGGCCAAGTGATGTGGGATATTCAAACAGAGTGGAGTATGGAGAAGTGGAATGAACCTTCTTTCTTTTCAGCATTTATTTTATTGAAATTATATAAATAGAATCAAGAATGCCATTCTGTCTACATAAGCAAGTTGAACTGGTGGTCAAAAGTACAGATATACATGTGTCTATAATTCTAGAACTAATAACCAGGAAGCCAAGAAGTCAAAT... | TAGTTTGCTGAATTGTCAACCATGACTCGGGACTGGCATTCTCTGGCAGCACACACCCATCCACCAGTAGACGCATGAGAGCAGTCCGCACTGGTGGGCAGCTGCAGCAGGCCAAGTGATGTGGGATATTCAAACAGAGTGGAGTATGGAGAAGTGGAATGAACCTTCTTTCTTTTCAGCATTTATTTTATTGAAATTATATAAATAGAATCAAGAATGCCATTCTGTCTACATAAGCAAGTTGAACTGGTGGTCAAAAGTACAGATATACATGTGTCTATAATTCTAGAACTAATAACCAGGAAGCCAAGAAGTCAAAT... | pathogenic | 201,334 |
Considering the variant on chromosome 12, location 101780189, involving gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | CAACCATGACTCGGGACTGGCATTCTCTGGCAGCACACACCCATCCACCAGTAGACGCATGAGAGCAGTCCGCACTGGTGGGCAGCTGCAGCAGGCCAAGTGATGTGGGATATTCAAACAGAGTGGAGTATGGAGAAGTGGAATGAACCTTCTTTCTTTTCAGCATTTATTTTATTGAAATTATATAAATAGAATCAAGAATGCCATTCTGTCTACATAAGCAAGTTGAACTGGTGGTCAAAAGTACAGATATACATGTGTCTATAATTCTAGAACTAATAACCAGGAAGCCAAGAAGTCAAATAAACATTGGCTGAAAT... | CAACCATGACTCGGGACTGGCATTCTCTGGCAGCACACACCCATCCACCAGTAGACGCATGAGAGCAGTCCGCACTGGTGGGCAGCTGCAGCAGGCCAAGTGATGTGGGATATTCAAACAGAGTGGAGTATGGAGAAGTGGAATGAACCTTCTTTCTTTTCAGCATTTATTTTATTGAAATTATATAAATAGAATCAAGAATGCCATTCTGTCTACATAAGCAAGTTGAACTGGTGGTCAAAAGTACAGATATACATGTGTCTATAATTCTAGAACTAATAACCAGGAAGCCAAGAAGTCAAATAAACATTGGCTGAAAT... | pathogenic | 201,335 |
A genetic variant on chromosome 12, position 101780271, affects the gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | CAGCTGCAGCAGGCCAAGTGATGTGGGATATTCAAACAGAGTGGAGTATGGAGAAGTGGAATGAACCTTCTTTCTTTTCAGCATTTATTTTATTGAAATTATATAAATAGAATCAAGAATGCCATTCTGTCTACATAAGCAAGTTGAACTGGTGGTCAAAAGTACAGATATACATGTGTCTATAATTCTAGAACTAATAACCAGGAAGCCAAGAAGTCAAATAAACATTGGCTGAAATGAAAGTTAATCTATGGTTTTATCTGTCCAAATCAGTACTAAAAATAACTCAGAGGAAGGAGAGATGTATTATCTATTCTAAA... | CAGCTGCAGCAGGCCAAGTGATGTGGGATATTCAAACAGAGTGGAGTATGGAGAAGTGGAATGAACCTTCTTTCTTTTCAGCATTTATTTTATTGAAATTATATAAATAGAATCAAGAATGCCATTCTGTCTACATAAGCAAGTTGAACTGGTGGTCAAAAGTACAGATATACATGTGTCTATAATTCTAGAACTAATAACCAGGAAGCCAAGAAGTCAAATAAACATTGGCTGAAATGAAAGTTAATCTATGGTTTTATCTGTCCAAATCAGTACTAAAAATAACTCAGAGGAAGGAGAGATGTATTATCTATTCTAAA... | pathogenic | 201,336 |
Considering the variant on chromosome 12, location 101780573, involving gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['GNPTAB-related_disorder', 'Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TGTATTATCTATTCTAAAATAACTGCATTTAAGAACAAATTCAACTCTAATATAGCCAGGCATTACAGTATTTCAAAGTACAATAAAGAAAGTCATGAAGGGCAAGGAGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGGGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACACGGCGAAACCCCCTCTCTACTTAAAATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTATTTGGAGGCTGAGGCAGGAGAATCATTTGAACCCGGGAGGCAGAGGTT... | TGTATTATCTATTCTAAAATAACTGCATTTAAGAACAAATTCAACTCTAATATAGCCAGGCATTACAGTATTTCAAAGTACAATAAAGAAAGTCATGAAGGGCAAGGAGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGGGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACACGGCGAAACCCCCTCTCTACTTAAAATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTATTTGGAGGCTGAGGCAGGAGAATCATTTGAACCCGGGAGGCAGAGGTT... | pathogenic | 201,339 |
A genetic variant on chromosome 12, position 101786141, affects the gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | GGTAAGTTTTCTGTTCAATAAAAAAATTCCATGAGAAAAACCATAAACTCCTGTGCAATCAAAACCTAAAGTCATGAGTTAGATTATAAGTATTACAGAAATACAGAAAAGTAAAAATAAAATCATTGTGAATATATTAGTCCAGGAGCTTCATGAAGGAGAGAGGACTTGAAGTGGGGCTGGACGAAGCAGGGGATGTACTGAGAGGGAAGGGGAAGGGGACAGGCAGTGGGACACAAGGCCTAGCACCACATGTGTGAAGACACTGACAGCTGCAATGTGATGCAGGGAGGGCAGGGATGTGGGGATCAACTGACAAA... | GGTAAGTTTTCTGTTCAATAAAAAAATTCCATGAGAAAAACCATAAACTCCTGTGCAATCAAAACCTAAAGTCATGAGTTAGATTATAAGTATTACAGAAATACAGAAAAGTAAAAATAAAATCATTGTGAATATATTAGTCCAGGAGCTTCATGAAGGAGAGAGGACTTGAAGTGGGGCTGGACGAAGCAGGGGATGTACTGAGAGGGAAGGGGAAGGGGACAGGCAGTGGGACACAAGGCCTAGCACCACATGTGTGAAGACACTGACAGCTGCAATGTGATGCAGGGAGGGCAGGGATGTGGGGATCAACTGACAAA... | pathogenic | 201,344 |
The genetic variant at chromosome 12, position 101786201, affecting gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | AAAACCTAAAGTCATGAGTTAGATTATAAGTATTACAGAAATACAGAAAAGTAAAAATAAAATCATTGTGAATATATTAGTCCAGGAGCTTCATGAAGGAGAGAGGACTTGAAGTGGGGCTGGACGAAGCAGGGGATGTACTGAGAGGGAAGGGGAAGGGGACAGGCAGTGGGACACAAGGCCTAGCACCACATGTGTGAAGACACTGACAGCTGCAATGTGATGCAGGGAGGGCAGGGATGTGGGGATCAACTGACAAAATCAAGGCAATTAGAGCTGAATCCCAAACACCAGGAAGAGAAGTTTGTATCCATGTGAAA... | AAAACCTAAAGTCATGAGTTAGATTATAAGTATTACAGAAATACAGAAAAGTAAAAATAAAATCATTGTGAATATATTAGTCCAGGAGCTTCATGAAGGAGAGAGGACTTGAAGTGGGGCTGGACGAAGCAGGGGATGTACTGAGAGGGAAGGGGAAGGGGACAGGCAGTGGGACACAAGGCCTAGCACCACATGTGTGAAGACACTGACAGCTGCAATGTGATGCAGGGAGGGCAGGGATGTGGGGATCAACTGACAAAATCAAGGCAATTAGAGCTGAATCCCAAACACCAGGAAGAGAAGTTTGTATCCATGTGAAA... | pathogenic | 201,345 |
The mutation in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) at chromosome 12, position 101788567—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mucolipidosis', 'Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | ATTATTCATAATTCCAATAAAGCCCATTATTGGACAGATTAGGAAGGAGGCAGATTCTGGTTAATAGAGTGTCATGTTACCAGATACAAGTTACCAATTCCAGTTAGAAAACAACTAAATACATTGGATGTGACACTACACTGATGTAAACAAAAGCAACTGTGACATGGTTCTAAAATAAATTTATATGAGATATTTCTATCTGATTATAAGAAATATCTACAATAAACATATTACCTGAATAAACAAATGGATGGGCAAAGGACACGGCTAGAAAATTCACAAAGTAGGACCTATAACCAGTTAAACAGTATAAAAAA... | ATTATTCATAATTCCAATAAAGCCCATTATTGGACAGATTAGGAAGGAGGCAGATTCTGGTTAATAGAGTGTCATGTTACCAGATACAAGTTACCAATTCCAGTTAGAAAACAACTAAATACATTGGATGTGACACTACACTGATGTAAACAAAAGCAACTGTGACATGGTTCTAAAATAAATTTATATGAGATATTTCTATCTGATTATAAGAAATATCTACAATAAACATATTACCTGAATAAACAAATGGATGGGCAAAGGACACGGCTAGAAAATTCACAAAGTAGGACCTATAACCAGTTAAACAGTATAAAAAA... | pathogenic | 201,348 |
Regarding the variant at chromosome 12 and position 101789917, affecting gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CGCCACTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGGCACTTCTGGATCTTGAAATTCTCAGGATCTTCTCTATCAATAAGTGTTTTTAAAAGTCTGATGGTTAAGTGGGGAGGTGACAATTAACAGAGATTGCTTGTCAGTGAGACAGTCTTGTTTTAAGGACCTATCAGAGTCAGGAATGACTCAAGTCGAGATAGGTGTATTTGGTTCTTGTTGTTGGGCTAAATCTCCTTCCCAGGTTCTTAAACATAAAATATACAGCTTCACAGCTTTTAAAGATAAGGATGTATAT... | CGCCACTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGGCACTTCTGGATCTTGAAATTCTCAGGATCTTCTCTATCAATAAGTGTTTTTAAAAGTCTGATGGTTAAGTGGGGAGGTGACAATTAACAGAGATTGCTTGTCAGTGAGACAGTCTTGTTTTAAGGACCTATCAGAGTCAGGAATGACTCAAGTCGAGATAGGTGTATTTGGTTCTTGTTGTTGGGCTAAATCTCCTTCCCAGGTTCTTAAACATAAAATATACAGCTTCACAGCTTTTAAAGATAAGGATGTATAT... | benign | 201,351 |
Regarding the variant found on chromosome 12 at position 101796719 in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | TTAATGCAACCTTCTAAACTTCTTTAGAAAGAGAACAAGAGTGTTTGATTAAAACTGCTGACCTCAAAATCTGCATTTTCTAATAAGCTAGTTTTCTTTCTAAAAGTTTAAAGCAGCTGGGCATGGTGACTCATCCCTTTAATCTCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTAAGACCTCATCTCTAAAAATAAATAATTAATTAATTTTTAAAATCAATTTAAAAATTTTTAAAAACGTTTGAAGCTTCTTCGGGGCAGGGATCTATGCATCTG... | TTAATGCAACCTTCTAAACTTCTTTAGAAAGAGAACAAGAGTGTTTGATTAAAACTGCTGACCTCAAAATCTGCATTTTCTAATAAGCTAGTTTTCTTTCTAAAAGTTTAAAGCAGCTGGGCATGGTGACTCATCCCTTTAATCTCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTAAGACCTCATCTCTAAAAATAAATAATTAATTAATTTTTAAAATCAATTTAAAAATTTTTAAAAACGTTTGAAGCTTCTTCGGGGCAGGGATCTATGCATCTG... | pathogenic | 201,354 |
Variant in GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), chromosome 12, position 101830576—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Mucolipidosis_type_II', 'Pseudo-Hurler_polydystrophy'] | ACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACATGAGAATCACGTGAACCCAGGAGGCGAGACATGAGAATCACGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTG... | ACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACATGAGAATCACGTGAACCCAGGAGGCGAGACATGAGAATCACGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTG... | pathogenic | 201,362 |
The chromosome 12, position 101830713 genetic variant in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATCAACTGGAGTCAGCAATCAAGGCCAAATCTGCCTAATCATG... | GGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATCAACTGGAGTCAGCAATCAAGGCCAAATCTGCCTAATCATG... | benign | 201,366 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 102839172, gene PAH (phenylalanine hydroxylase): what disease(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | AAAAACACTTACATATTGGAAATTTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTT... | AAAAACACTTACATATTGGAAATTTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTT... | pathogenic | 201,392 |
Gene mutation in PAH (phenylalanine hydroxylase) at chromosome 12, position 102839178—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Phenylketonuria'] | ACTTACATATTGGAAATTTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTTGGTGTT... | ACTTACATATTGGAAATTTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTTGGTGTT... | pathogenic | 201,393 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 102840395, gene PAH (phenylalanine hydroxylase): what disease(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | CTAATACAAATAAAAATTTCACATTTATACAGATTTGCTTTTCAATAATGTATTTACTTATTTATTCAGTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTC... | CTAATACAAATAAAAATTTCACATTTATACAGATTTGCTTTTCAATAATGTATTTACTTATTTATTCAGTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTC... | pathogenic | 201,407 |
Evaluate the clinical significance of the mutation at chromosome 12, position 102840408 in gene PAH (phenylalanine hydroxylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Phenylketonuria'] | AAATTTCACATTTATACAGATTTGCTTTTCAATAATGTATTTACTTATTTATTCAGTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAA... | AAATTTCACATTTATACAGATTTGCTTTTCAATAATGTATTTACTTATTTATTCAGTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAA... | pathogenic | 201,412 |
Mutation found at chromosome 12 position 102840432, gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Phenylketonuria'] | CTTTTCAATAATGTATTTACTTATTTATTCAGTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAG... | CTTTTCAATAATGTATTTACTTATTTATTCAGTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAG... | pathogenic | 201,418 |
Assess the variant on chromosome 12, position 102840495, impacting PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Phenylketonuria'] | CTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATATTA... | CTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATATTA... | pathogenic | 201,448 |
Clinical significance of chromosome 12, position 102840505, gene PAH (phenylalanine hydroxylase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Phenylketonuria'] | CATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATATTAAGCCCAATAA... | CATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATATTAAGCCCAATAA... | pathogenic | 201,453 |
Evaluate if the mutation on chromosome 12 at position 102840514 in PAH (phenylalanine hydroxylase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | CATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATATTAAGCCCAATAATTCAATTCT... | CATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATATTAAGCCCAATAATTCAATTCT... | pathogenic | 201,457 |
Variant at chromosome 12, position 102843645, gene PAH (phenylalanine hydroxylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Phenylketonuria'] | CTATGAGTGTTAGTTGCTATCTTTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAA... | CTATGAGTGTTAGTTGCTATCTTTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAA... | pathogenic | 201,473 |
Regarding the variant found on chromosome 12 at position 102843646 in gene PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Phenylketonuria'] | TATGAGTGTTAGTTGCTATCTTTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAA... | TATGAGTGTTAGTTGCTATCTTTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAA... | pathogenic | 201,476 |
Variant in PAH (phenylalanine hydroxylase), chromosome 12, position 102843667—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Phenylketonuria'] | TTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGT... | TTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGT... | pathogenic | 201,487 |
Variant in PAH (phenylalanine hydroxylase), chromosome 12, position 102843668—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Phenylketonuria'] | TCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTT... | TCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTT... | pathogenic | 201,488 |
Variant in PAH (phenylalanine hydroxylase), chromosome 12, position 102843672—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Phenylketonuria'] | GAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTC... | GAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTC... | pathogenic | 201,491 |
The genetic variant at chromosome 12, position 102843678, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | CAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCT... | CAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCT... | pathogenic | 201,495 |
Evaluate this variant at chromosome 12, position 102843680, gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Phenylketonuria'] | AATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGA... | AATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGA... | pathogenic | 201,496 |
Clinical significance of chromosome 12, position 102843715, gene PAH (phenylalanine hydroxylase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Phenylketonuria'] | GAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATT... | GAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATT... | pathogenic | 201,512 |
Does the variant on chromosome 12 at location 102843717 affecting gene PAH (phenylalanine hydroxylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Phenylketonuria'] | AAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCC... | AAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCC... | pathogenic | 201,514 |
Does the variant on chromosome 12 at location 102843726 affecting gene PAH (phenylalanine hydroxylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Phenylketonuria'] | TCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGA... | TCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGA... | pathogenic | 201,516 |
Mutation at chromosome 12, position 102843738, within PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Phenylketonuria'] | TGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTT... | TGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTT... | pathogenic | 201,522 |
Variant at chromosome 12, position 102843745, gene PAH (phenylalanine hydroxylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Phenylketonuria'] | ATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTC... | ATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTC... | pathogenic | 201,525 |
Does the chromosome 12 mutation at position 102843745 within gene PAH (phenylalanine hydroxylase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Phenylketonuria'] | ATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTC... | ATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTC... | pathogenic | 201,526 |
Mutation at chromosome 12, position 102843750, within PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Phenylketonuria'] | CCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTCTCTTT... | CCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTCTCTTT... | pathogenic | 201,528 |
Is the genetic change at chromosome 12, position 102843755, within gene PAH (phenylalanine hydroxylase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Phenylketonuria'] | TGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTCTCTTTGATTC... | TGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTCTCTTTGATTC... | pathogenic | 201,529 |
Gene PAH (phenylalanine hydroxylase) variant at chromosome 12, position 102844343—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Phenylketonuria'] | AGTTTAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGT... | AGTTTAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGT... | pathogenic | 201,558 |
Classify the chromosome 12 variant at position 102844344 affecting gene PAH (phenylalanine hydroxylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Intellectual_disability', 'Phenylketonuria'] | GTTTAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTC... | GTTTAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTC... | pathogenic | 201,559 |
Regarding the variant at chromosome 12 and position 102844345, affecting gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Phenylketonuria'] | TTTAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCT... | TTTAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCT... | pathogenic | 201,560 |
A genetic alteration at chromosome 12, position 102844347, in gene PAH (phenylalanine hydroxylase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Phenylketonuria'] | TAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGG... | TAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGG... | pathogenic | 201,563 |
Does the chromosome 12 mutation at position 102844353 within gene PAH (phenylalanine hydroxylase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Phenylketonuria'] | AGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGA... | AGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGA... | pathogenic | 201,565 |
Variant in PAH (phenylalanine hydroxylase), chromosome 12, position 102844362—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Phenylketonuria'] | AAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTG... | AAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTG... | pathogenic | 201,573 |
Does the genetic variant at chromosome 12, position 102844376, impacting gene PAH (phenylalanine hydroxylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Phenylketonuria'] | AGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAA... | AGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAA... | pathogenic | 201,582 |
Gene PAH (phenylalanine hydroxylase) variant at chromosome 12, position 102844424—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Phenylketonuria'] | ACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAAGGACTAAGATGTATGTTCATTTGTCTTTGACTTTCTCCCTTATGTCTC... | ACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAAGGACTAAGATGTATGTTCATTTGTCTTTGACTTTCTCCCTTATGTCTC... | pathogenic | 201,603 |
Is the genetic change at chromosome 12, position 102846894, within gene PAH (phenylalanine hydroxylase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Phenylketonuria'] | CCATGGTTCTGAGGCTTTTGAACTTTGACTAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCAC... | CCATGGTTCTGAGGCTTTTGAACTTTGACTAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCAC... | pathogenic | 201,616 |
Located at chromosome 12 position 102846922, the variant affecting gene PAH (phenylalanine hydroxylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Phenylketonuria'] | CTAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATC... | CTAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATC... | pathogenic | 201,621 |
Variant at chromosome 12, position 102846923, gene PAH (phenylalanine hydroxylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Phenylketonuria'] | TAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCT... | TAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCT... | pathogenic | 201,623 |
Clinically, how would you classify the variant at chromosome 12, position 102846928, gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Phenylketonuria'] | TACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCA... | TACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCA... | pathogenic | 201,627 |
The chromosome 12, position 102846931 genetic variant in gene PAH (phenylalanine hydroxylase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Phenylketonuria'] | GCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCT... | GCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCT... | pathogenic | 201,630 |
Evaluate the clinical significance of the mutation at chromosome 12, position 102846943 in gene PAH (phenylalanine hydroxylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Phenylketonuria'] | TCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGTGCTGG... | TCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGTGCTGG... | pathogenic | 201,638 |
For chromosome 12, position 102846947, gene PAH (phenylalanine hydroxylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Phenylketonuria'] | GTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGTGCTGGCTGA... | GTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGTGCTGGCTGA... | pathogenic | 201,640 |
Does the variant impacting PAH on chromosome 12, position 102851691, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Phenylketonuria'] | AGAGTGAACCAAATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGT... | AGAGTGAACCAAATTCAAATTCTTAGCCTGGATCTGCTCTCTCAATTCAACTAGAAACCACTGATAAATCCAAGACCAAAATGGCGCCTTGTTCTCTTAGTCACCATTCTTTGTGAGCCTAGAGTTTGCCTACAACAAGGGGGGCCCCACATTCCCTGTGCTCCAGCCCCACTCCATCCTGTACTGTAGTGGGAAGCAAGTCCTGCCTCTGATCAAAAAGGAATGTTCTCAGGAAACTTTCAACATGACTTGCTGCCTTGGAACTGTCCAGATCAAAGTTGGAACCATGTGACACTGATGCCCCAAGAGCTCCTGTTTGT... | pathogenic | 201,653 |
Is the genetic mutation found on chromosome 12 at position 102852817, within the gene PAH (phenylalanine hydroxylase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Phenylketonuria'] | GTAGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTT... | GTAGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTT... | pathogenic | 201,693 |
Does the variant on chromosome 12 at location 102852819 affecting gene PAH (phenylalanine hydroxylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Phenylketonuria'] | AGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAA... | AGCATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAA... | pathogenic | 201,696 |
Does the genetic variant at chromosome 12, position 102852821, impacting gene PAH (phenylalanine hydroxylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Phenylketonuria'] | CATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAA... | CATTATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAA... | pathogenic | 201,699 |
Does the variant impacting PAH (phenylalanine hydroxylase) on chromosome 12, position 102852824, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Phenylketonuria'] | TATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAA... | TATTTTACTCAGCCCAAAACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAA... | pathogenic | 201,704 |
Is the genetic mutation found on chromosome 12 at position 102852842, within the gene PAH (phenylalanine hydroxylase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Phenylketonuria'] | ACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAA... | ACTTTCTTTTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAA... | pathogenic | 201,717 |
Classify the chromosome 12 variant at position 102852850 affecting gene PAH (phenylalanine hydroxylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Phenylketonuria'] | TTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGA... | TTTTGGCCAGGTGTGGTGGCTCTTGCCTGTAATCTTAGCACTTTGGGAGGGTGAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGA... | pathogenic | 201,722 |
Chromosome 12, position 102852902, gene PAH (phenylalanine hydroxylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Phenylketonuria'] | GAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGG... | GAGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGG... | pathogenic | 201,750 |
Classify the chromosome 12 variant at position 102852903 affecting gene PAH (phenylalanine hydroxylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Phenylketonuria'] | AGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGT... | AGATGGGAGGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGT... | pathogenic | 201,753 |
Chromosome 12, position 102852911, gene PAH (phenylalanine hydroxylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Phenylketonuria'] | GGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGT... | GGATTGAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGT... | pathogenic | 201,755 |
Benign or pathogenic: chromosome 12, position 102852916, gene PAH (phenylalanine hydroxylase) variant? Disease(s) if pathogenic? | pathogenic; ['Phenylketonuria'] | GAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAG... | GAGGCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAG... | pathogenic | 201,757 |
Classify the chromosome 12 variant at position 102852919 affecting gene PAH (phenylalanine hydroxylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Phenylketonuria'] | GCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTT... | GCCAAGAGTTTGAGGTCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTT... | pathogenic | 201,761 |
Considering the variant on chromosome 12, location 102852934, involving gene PAH (phenylalanine hydroxylase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Phenylketonuria'] | TCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAA... | TCAGCCTCAGCAATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAA... | pathogenic | 201,773 |
Is the chromosome 12, position 102852945 variant in PAH (phenylalanine hydroxylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Phenylketonuria'] | AATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAGATATTCAGCT... | AATGTAGTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAGATATTCAGCT... | pathogenic | 201,782 |
Classify the chromosome 12 variant at position 102852951 affecting gene PAH (phenylalanine hydroxylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Phenylketonuria'] | GTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAGATATTCAGCTCATTTT... | GTGAGACTCTGTCTCCACAAAAATTAAAACATTCAGCCAGGCATGAAAGTATGTGCTTGTAGTCCCAGCCACTCAGGAGGCTGAGGTGGGAGGATTGTTTGAGCCCAGAAGTCTGAGGCTGCAGTGAACCGTGATTATACCACTGCACTCCAGTCCAGCCTGGGTGACAGAGTGAGACCTTGCCTTAAAAGAAAAAAAAAAGAAAGAAAAAGAAAAAGAAAGCTTTTTTTTGAGCTTGTTAACCACTGTGAAAGATGAATGAAATTCTAGGTTGCAGGGTTGCAGCTTTGATGATGGTGATAAGATATTCAGCTCATTTT... | pathogenic | 201,785 |
Located at chromosome 12 position 102855151, the variant affecting gene PAH (phenylalanine hydroxylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Phenylketonuria'] | TTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCC... | TTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCC... | pathogenic | 201,799 |
Chromosome 12, position 102855155, gene PAH (phenylalanine hydroxylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Phenylketonuria'] | TAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAA... | TAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAA... | pathogenic | 201,803 |
Assess the variant on chromosome 12, position 102855167, impacting PAH (phenylalanine hydroxylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Phenylketonuria'] | CTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACC... | CTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACC... | pathogenic | 201,811 |
For chromosome 12, position 102855172, gene PAH (phenylalanine hydroxylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Phenylketonuria'] | TCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCT... | TCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCT... | pathogenic | 201,817 |
Variant chromosome 12, position 102855176, gene PAH (phenylalanine hydroxylase): benign or pathogenic? Disease(s)? | pathogenic; ['Phenylketonuria'] | GTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACT... | GTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACT... | pathogenic | 201,819 |
Is the genetic variant on chromosome 12, position 102855209, gene PAH (phenylalanine hydroxylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Phenylketonuria'] | TCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCA... | TCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCA... | pathogenic | 201,831 |
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