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 at chromosome 15, position 89317487, gene POLG (DNA polymerase gamma, catalytic subunit): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | GCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGG... | GCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGG... | pathogenic | 238,224 |
The mutation in gene POLG (DNA polymerase gamma, catalytic subunit) at chromosome 15, position 89317487—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | GCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGG... | GCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGG... | pathogenic | 238,225 |
Is chromosome 15, position 89317509, gene POLG (DNA polymerase gamma, catalytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | CAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATT... | CAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATT... | pathogenic | 238,227 |
The mutation in gene POLG (DNA polymerase gamma, catalytic subunit) at chromosome 15, position 89317521—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['POLG-related_disorder', 'Progressive_sclerosing_poliodystrophy'] | AGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTC... | AGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTC... | pathogenic | 238,228 |
Clinically, how would you classify the variant at chromosome 15, position 89318589, gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | TCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCAC... | TCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCAC... | pathogenic | 238,236 |
Evaluate the clinical significance of the mutation at chromosome 15, position 89318598 in gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | ATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAAC... | ATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAAC... | pathogenic | 238,238 |
Clinical significance of chromosome 15, position 89318613, gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Progressive_sclerosing_poliodystrophy', 'likely other unspecified diseases'] | TTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTC... | TTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTC... | pathogenic | 238,240 |
Does the variant impacting POLG (DNA polymerase gamma, catalytic subunit) on chromosome 15, position 89318661, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | TTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAG... | TTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAG... | pathogenic | 238,244 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 89318947, gene POLG (DNA polymerase gamma, catalytic subunit): what disease(s) if pathogenic? | pathogenic; ['Mitochondrial_disease', 'Progressive_sclerosing_poliodystrophy'] | GAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCAC... | GAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCAC... | pathogenic | 238,257 |
Variant chromosome 15, position 89318974, gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? Disease(s)? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | GTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTG... | GTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTG... | pathogenic | 238,259 |
Is the genetic variant on chromosome 15, position 89319044, gene POLG (DNA polymerase gamma, catalytic subunit), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | AAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGA... | AAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGA... | pathogenic | 238,263 |
Clinically, how would you classify the variant at chromosome 15, position 89319113, gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAA... | AGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAA... | benign | 238,269 |
Chromosome 15, position 89319222, gene POLG (DNA polymerase gamma, catalytic subunit): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | TGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGA... | TGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGA... | pathogenic | 238,272 |
Does the genetic variant at chromosome 15, position 89319274, impacting gene POLG (DNA polymerase gamma, catalytic subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sens... | ACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAG... | ACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAG... | pathogenic | 238,277 |
Gene POLG (DNA polymerase gamma, catalytic subunit) variant at chromosome position 89320862 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | AAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCT... | AAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCT... | pathogenic | 238,287 |
Is the chromosome 15, position 89321085 variant in POLG (DNA polymerase gamma, catalytic subunit) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGG... | TCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGG... | benign | 238,303 |
Is chromosome 15, position 89321184, gene POLG (DNA polymerase gamma, catalytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | CAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGA... | CAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGA... | pathogenic | 238,306 |
Does the genetic variant at chromosome 15, position 89321818, impacting gene POLG (DNA polymerase gamma, catalytic subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis'] | AGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCC... | AGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCC... | pathogenic | 238,326 |
Determine whether the variant at chromosome 15, position 89322772, in gene POLG (DNA polymerase gamma, catalytic subunit) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | TCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGC... | TCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGC... | pathogenic | 238,348 |
Does the variant impacting POLG (DNA polymerase gamma, catalytic subunit) on chromosome 15, position 89323438, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['POLG-Related_Spectrum_Disorders', 'Progressive_sclerosing_poliodystrophy'] | TTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAG... | TTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAG... | pathogenic | 238,359 |
Mutation found at chromosome 15 position 89324187, gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | CTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTC... | CTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTC... | pathogenic | 238,379 |
Variant chromosome 15, position 89325580, gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? Disease(s)? | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | TATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAG... | TATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAG... | pathogenic | 238,396 |
Gene mutation in POLG (DNA polymerase gamma, catalytic subunit) at chromosome 15, position 89325582—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_sclerosing_poliodystrophy'] | TCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTT... | TCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTT... | pathogenic | 238,397 |
Is the genetic variant on chromosome 15, position 89326537, gene POLG (DNA polymerase gamma, catalytic subunit), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCAC... | AGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCAC... | benign | 238,411 |
Considering the variant on chromosome 15, location 89326677, involving gene POLG (DNA polymerase gamma, catalytic subunit), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1'] | CTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTC... | CTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTC... | pathogenic | 238,414 |
A genetic alteration at chromosome 15, position 89326742, in gene POLG—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCA... | GCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCA... | benign | 238,420 |
Regarding the variant found on chromosome 15 at position 89326918 in gene POLG (DNA polymerase gamma, catalytic subunit): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | TGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGA... | TGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGA... | pathogenic | 238,424 |
Variant in gene POLG (DNA polymerase gamma, catalytic subunit), located at chromosome 15 position 89327080: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAG... | CCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAG... | benign | 238,431 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 89327328, gene POLG (DNA polymerase gamma, catalytic subunit): what disease(s) if pathogenic? | pathogenic; ['Generalized_epilepsy', 'Global_developmental_delay', 'Obesity', 'Progressive_sclerosing_poliodystrophy'] | GAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTA... | GAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTA... | pathogenic | 238,444 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 89328666, gene POLG (DNA polymerase gamma, catalytic subunit). What disease(s) is it linked to if pathogenic? | benign | TGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGG... | TGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGG... | benign | 238,454 |
The mutation in gene POLG (DNA polymerase gamma, catalytic subunit) at chromosome 15, position 89329112—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGA... | CTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGA... | benign | 238,476 |
Mutation at chromosome 15, position 89330255, within POLG: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | GGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTG... | GGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTG... | pathogenic | 238,486 |
The mutation in gene POLG at chromosome 15, position 89333158—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | AGCTGCGAAGGAGCTCCTTGCAACCTTTATGGAAGGGAAAAAGGGAGTATCTGCCTCAACAGATTCAACACACATAAAACTAACTTCTTTCAAAGAGAAAGCAAAAAGAGGTTCCTAGTTTTAAACCTGACAAAATCGAACTCATACTCCAAATGGTGAAAATAAGCCAAGGGACTGAAAGAAATCCCCACCCCCCCACATTTTAATTCAGCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGT... | AGCTGCGAAGGAGCTCCTTGCAACCTTTATGGAAGGGAAAAAGGGAGTATCTGCCTCAACAGATTCAACACACATAAAACTAACTTCTTTCAAAGAGAAAGCAAAAAGAGGTTCCTAGTTTTAAACCTGACAAAATCGAACTCATACTCCAAATGGTGAAAATAAGCCAAGGGACTGAAAGAAATCCCCACCCCCCCACATTTTAATTCAGCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGT... | pathogenic | 238,496 |
Assess the variant on chromosome 15, position 89333368, impacting POLG: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | GCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGTCAAGATGCAGCTCTGCAGCTGTGCATGAAGCCATATTATAAACTAGTGATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGG... | GCATGTCAAAGCCCTTAAAACAACGCAGACAAAAAGGCTAAAGAATGCCAAATCTTTGAGGCCATGGTGGTAACAGGAACTTTGGTTACAGTAAAAAGCCACACTGGTGTCAAGATGCAGCTCTGCAGCTGTGCATGAAGCCATATTATAAACTAGTGATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGG... | pathogenic | 238,502 |
Clinical classification of chromosome 15, position 89333588, gene POLG: benign or pathogenic? Disease(s) if pathogenic? | benign | CTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTA... | CTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTA... | benign | 238,514 |
Variant in POLG, chromosome 15, position 89333593—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAA... | AATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAA... | benign | 238,516 |
Determine if the mutation at chromosome 15, position 89333596 in gene POLG is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,519 |
Does the chromosome 15 mutation at position 89333596 within gene POLG classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,520 |
Located at chromosome 15 position 89333596, the variant affecting gene POLG—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,521 |
Does the variant on chromosome 15 at location 89333596 affecting gene POLG have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,522 |
The chromosome 15, position 89333596 genetic variant in gene POLG: benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,523 |
Is the genetic change at chromosome 15, position 89333596, within gene POLG benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,524 |
The chromosome 15, position 89333596 genetic variant in gene POLG: benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,525 |
A genetic variant at chromosome 15, position 89333596, affecting gene POLG—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,526 |
A genetic variant at chromosome 15, position 89333596, affecting gene POLG—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | CTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGC... | benign | 238,527 |
Mutation found at chromosome 15 position 89333666, gene POLG: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy'] | TGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGA... | TGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGA... | pathogenic | 238,534 |
Classify the chromosome 15 variant at position 89334712 affecting gene POLG as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCG... | CCTATACTGCCTGGGACAGTCCCACAAAAGGGAGCTTTCTACCGCCCAAAATAATTAATAGCTCCCCAAATAGAAACACTGTTCAAATGACTTTTCAGACTAACTTCTCATGACGCTATTAGGAGAGGGGGTAAAGGCACCAAATCACCGTGATCTTAAGTGGCCTCCCGAAGGTCTCATGTACAGCGCTCTACTGTGATTCTCTGCGTGGCCTTTACTGCCTGACATTTACTTGGGTATTTGCTTACTGCCTGTGATCTTCCCACCAGAAAGTGAGTCCCACATAAACAGGGGTCTAGTCCTAATTCAACACATCAGCG... | benign | 238,541 |
Evaluate this variant at chromosome 15, position 89630503, gene KIF7 (kinesin family member 7): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCTGGCTCGTCGCAGTTCCCGCCGGGGCTTGGACAAAGGCCCAAAGTTCCAGGGCAGGCCTGCCTCACCCACAGGAAGCACCCGCCCCACCAGGGGCTCAGCCGCCTCCCGCTGCCTCAGTTCCTCGGGGGACCCCTGCTCCTCACCACACAGGCTCGAGCGTTTCCAGGTCAAGGGTAACGGAGCGTGGACCAAGTCCCGCGTCTCCTCCCGGGTGCGGGGGGCCCCCTCAGTGAGGGGGGACAGCCAGAGAAGCTCGGGTGCCAGGTGGAGCTCATCTTCATTTCCAGGAGCCTGTCTGCCCTCCGAGCACAGGCTCC... | GCTGGCTCGTCGCAGTTCCCGCCGGGGCTTGGACAAAGGCCCAAAGTTCCAGGGCAGGCCTGCCTCACCCACAGGAAGCACCCGCCCCACCAGGGGCTCAGCCGCCTCCCGCTGCCTCAGTTCCTCGGGGGACCCCTGCTCCTCACCACACAGGCTCGAGCGTTTCCAGGTCAAGGGTAACGGAGCGTGGACCAAGTCCCGCGTCTCCTCCCGGGTGCGGGGGGCCCCCTCAGTGAGGGGGGACAGCCAGAGAAGCTCGGGTGCCAGGTGGAGCTCATCTTCATTTCCAGGAGCCTGTCTGCCCTCCGAGCACAGGCTCC... | benign | 238,583 |
Assess the variant on chromosome 15, position 89631708, impacting KIF7 (kinesin family member 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Acrocallosal_syndrome', 'Hydrolethalus_syndrome_2', 'Multiple_epiphyseal_dysplasia,_Al-Gazali_type'] | CTTGCCACCACGGCACTAAGAAATCACCAGGGTCTTCCCTGCTGAGCCAAGACTCAGCCTCAGACACCTCAGCAGTGCTCTAGTTATCTTCCAACGATCAGAGCTGGCTCTCACCTTATCTGCTATCTCTGCCACAAACCCTTTCCTAGCCACACACTATGGAGCTGGGCAGAGCGTCAAGTTGTGGGATTTCATCTAGACCAACCTCAGCACTATGGACATCTGGGACCAGATAATTCTTGGTTGTGGGGGCCTGTCCTGTGTGTTATAGGATGTTTAGTAACATCCCTGGCCTCCACCCCCACCACTGTGACAACCAA... | CTTGCCACCACGGCACTAAGAAATCACCAGGGTCTTCCCTGCTGAGCCAAGACTCAGCCTCAGACACCTCAGCAGTGCTCTAGTTATCTTCCAACGATCAGAGCTGGCTCTCACCTTATCTGCTATCTCTGCCACAAACCCTTTCCTAGCCACACACTATGGAGCTGGGCAGAGCGTCAAGTTGTGGGATTTCATCTAGACCAACCTCAGCACTATGGACATCTGGGACCAGATAATTCTTGGTTGTGGGGGCCTGTCCTGTGTGTTATAGGATGTTTAGTAACATCCCTGGCCTCCACCCCCACCACTGTGACAACCAA... | pathogenic | 238,596 |
Gene mutation in KIF7 (kinesin family member 7) at chromosome 15, position 89633008—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | benign | 238,603 |
Chromosome 15, position 89633008, gene KIF7 (kinesin family member 7): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | benign | 238,604 |
Does the variant on chromosome 15 at location 89633008 affecting gene KIF7 (kinesin family member 7) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | benign | 238,605 |
The chromosome 15, position 89633008 genetic variant in gene KIF7 (kinesin family member 7): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | benign | 238,606 |
Clinical classification of chromosome 15, position 89633008, gene KIF7 (kinesin family member 7): benign or pathogenic? Disease(s) if pathogenic? | benign | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | benign | 238,607 |
Variant on chromosome 15, at position 89633008, affecting KIF7 (kinesin family member 7): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | TACTGAATACTGTAGGCAGTTGTTAACCATGGTGAGTATTTGTGTATCTAAACATAGAAAACGCACAGTAAAAATGCGGTGTTATAATTTTCTGGGAGCACCATTGTTGTATGAGCTGTCATTCACTGAAATGTCACACAGCACATGACTATAGTCACATAGGCTTTCTCTCTGCTCAGGGAACACAGATGTGTGGGCATGAGGTGCACTGAGTATGCGCCTGACACTCCACACACGAAGCCGAGACGTGTGGGCAGGTACTCGAATGCAGCACAGAACAGGAGTCCAGGCTCCAGCCAGAAGAGAGCTGAGAGGTCAGC... | benign | 238,608 |
Determine if the mutation at chromosome 15, position 89633707 in gene KIF7 (kinesin family member 7) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Acrocallosal_syndrome', 'Hydrolethalus_syndrome_2', 'KIF7-related_disorder', 'Multiple_epiphyseal_dysplasia,_Al-Gazali_type'] | TCTCCAGGTGCTCCAGCCGGCTGGACACTCGCACGATGTCCTCGTTGAGGGCCTGGGGGCAGAATCACCAGGGATTAGAGAAGGAACAGGCACTGTCCTCACAGGGGGGACAGAAAGGGCCGGATGTTAAGGAGGACTTGCGTCCTTCCCTCAAGAAACCAACACTCCAAATGTTCTGCTCAGCAGGGAGACCAGACTTAGTTCACAGAGACTCCAGGAGGCGGGGCTAAAGGGACCAGAGCATTTGCAGAGGGGCACTCAGAGATGGCGAGAGGAGGATAAGGACCAGAGGGACGTGGCCCTCCTGGCAAGAACAGGCA... | TCTCCAGGTGCTCCAGCCGGCTGGACACTCGCACGATGTCCTCGTTGAGGGCCTGGGGGCAGAATCACCAGGGATTAGAGAAGGAACAGGCACTGTCCTCACAGGGGGGACAGAAAGGGCCGGATGTTAAGGAGGACTTGCGTCCTTCCCTCAAGAAACCAACACTCCAAATGTTCTGCTCAGCAGGGAGACCAGACTTAGTTCACAGAGACTCCAGGAGGCGGGGCTAAAGGGACCAGAGCATTTGCAGAGGGGCACTCAGAGATGGCGAGAGGAGGATAAGGACCAGAGGGACGTGGCCCTCCTGGCAAGAACAGGCA... | pathogenic | 238,615 |
Gene KIF7 (kinesin family member 7) variant at chromosome 15, position 89648449—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Acrocallosal_syndrome', 'Hydrolethalus_syndrome_2', 'Multiple_epiphyseal_dysplasia,_Al-Gazali_type'] | AGGACCCAGAACTTTCAGGCAGGAGTAACCTTTGTCCAAACAAGGTTCCCCACGTGGAAAAGTGAACTTGCAAAGAGAGCCATCCAAAGACAGAGGGGGTGGTCTGAAAGGTGATGAGCTCTCCGTATGCAGAAGTGTGCAAGGTTTCCACCCGATGCCGGAAGCCTGAACCCCCTCTGTAACCTCCTCATTCCAAGCGATCTTCAGCTACCCCAGGGATGCCCGATGGCACTGCACCCTTCTGAGAGGCCCAGAGTCATTCAAATCTTGGCTCTTCCTCTGGGGACAGCTGAAAGCAGCCTCTCGCATCTCACAGCCAG... | AGGACCCAGAACTTTCAGGCAGGAGTAACCTTTGTCCAAACAAGGTTCCCCACGTGGAAAAGTGAACTTGCAAAGAGAGCCATCCAAAGACAGAGGGGGTGGTCTGAAAGGTGATGAGCTCTCCGTATGCAGAAGTGTGCAAGGTTTCCACCCGATGCCGGAAGCCTGAACCCCCTCTGTAACCTCCTCATTCCAAGCGATCTTCAGCTACCCCAGGGATGCCCGATGGCACTGCACCCTTCTGAGAGGCCCAGAGTCATTCAAATCTTGGCTCTTCCTCTGGGGACAGCTGAAAGCAGCCTCTCGCATCTCACAGCCAG... | pathogenic | 238,648 |
Does the genetic variant at chromosome 15, position 89648548, impacting gene KIF7 (kinesin family member 7), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Acrocallosal_syndrome', 'Hydrolethalus_syndrome_2', 'Multiple_epiphyseal_dysplasia,_Al-Gazali_type'] | TGGTCTGAAAGGTGATGAGCTCTCCGTATGCAGAAGTGTGCAAGGTTTCCACCCGATGCCGGAAGCCTGAACCCCCTCTGTAACCTCCTCATTCCAAGCGATCTTCAGCTACCCCAGGGATGCCCGATGGCACTGCACCCTTCTGAGAGGCCCAGAGTCATTCAAATCTTGGCTCTTCCTCTGGGGACAGCTGAAAGCAGCCTCTCGCATCTCACAGCCAGTCCCATGAAAGCATGAGTGGGGGACACGTGCCCCAGTGCCCCCTTCCCCTGCCCCGAACTTGACCAGTCCAGCAGGGCCCACAGACACCCAGCCTCACC... | TGGTCTGAAAGGTGATGAGCTCTCCGTATGCAGAAGTGTGCAAGGTTTCCACCCGATGCCGGAAGCCTGAACCCCCTCTGTAACCTCCTCATTCCAAGCGATCTTCAGCTACCCCAGGGATGCCCGATGGCACTGCACCCTTCTGAGAGGCCCAGAGTCATTCAAATCTTGGCTCTTCCTCTGGGGACAGCTGAAAGCAGCCTCTCGCATCTCACAGCCAGTCCCATGAAAGCATGAGTGGGGGACACGTGCCCCAGTGCCCCCTTCCCCTGCCCCGAACTTGACCAGTCCAGCAGGGCCCACAGACACCCAGCCTCACC... | pathogenic | 238,651 |
Gene KIF7 (kinesin family member 7) variant at chromosome position 89648591 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Acrocallosal_syndrome'] | GGTTTCCACCCGATGCCGGAAGCCTGAACCCCCTCTGTAACCTCCTCATTCCAAGCGATCTTCAGCTACCCCAGGGATGCCCGATGGCACTGCACCCTTCTGAGAGGCCCAGAGTCATTCAAATCTTGGCTCTTCCTCTGGGGACAGCTGAAAGCAGCCTCTCGCATCTCACAGCCAGTCCCATGAAAGCATGAGTGGGGGACACGTGCCCCAGTGCCCCCTTCCCCTGCCCCGAACTTGACCAGTCCAGCAGGGCCCACAGACACCCAGCCTCACCCTCTTCTCACCTCTCCCCTCTGCTCAGAGCCAACTTCATCTCC... | GGTTTCCACCCGATGCCGGAAGCCTGAACCCCCTCTGTAACCTCCTCATTCCAAGCGATCTTCAGCTACCCCAGGGATGCCCGATGGCACTGCACCCTTCTGAGAGGCCCAGAGTCATTCAAATCTTGGCTCTTCCTCTGGGGACAGCTGAAAGCAGCCTCTCGCATCTCACAGCCAGTCCCATGAAAGCATGAGTGGGGGACACGTGCCCCAGTGCCCCCTTCCCCTGCCCCGAACTTGACCAGTCCAGCAGGGCCCACAGACACCCAGCCTCACCCTCTTCTCACCTCTCCCCTCTGCTCAGAGCCAACTTCATCTCC... | pathogenic | 238,652 |
Variant at chromosome position 89648678, chromosome 15, gene KIF7 (kinesin family member 7): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Acrocallosal_syndrome', 'Hydrolethalus_syndrome_2', 'Multiple_epiphyseal_dysplasia,_Al-Gazali_type'] | CACTGCACCCTTCTGAGAGGCCCAGAGTCATTCAAATCTTGGCTCTTCCTCTGGGGACAGCTGAAAGCAGCCTCTCGCATCTCACAGCCAGTCCCATGAAAGCATGAGTGGGGGACACGTGCCCCAGTGCCCCCTTCCCCTGCCCCGAACTTGACCAGTCCAGCAGGGCCCACAGACACCCAGCCTCACCCTCTTCTCACCTCTCCCCTCTGCTCAGAGCCAACTTCATCTCCAGGGAGGCAGGCAGGCGGCACCATGCCCAGCACATGGGCGTGGGCACCCCCCAGGGGGGCTGTATGAGGTCGAGGCACAAAGGACCC... | CACTGCACCCTTCTGAGAGGCCCAGAGTCATTCAAATCTTGGCTCTTCCTCTGGGGACAGCTGAAAGCAGCCTCTCGCATCTCACAGCCAGTCCCATGAAAGCATGAGTGGGGGACACGTGCCCCAGTGCCCCCTTCCCCTGCCCCGAACTTGACCAGTCCAGCAGGGCCCACAGACACCCAGCCTCACCCTCTTCTCACCTCTCCCCTCTGCTCAGAGCCAACTTCATCTCCAGGGAGGCAGGCAGGCGGCACCATGCCCAGCACATGGGCGTGGGCACCCCCCAGGGGGGCTGTATGAGGTCGAGGCACAAAGGACCC... | pathogenic | 238,654 |
Variant in KIF7 (kinesin family member 7), chromosome 15, position 89649176—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Acrocallosal_syndrome'] | ACAGGTCTGAGGCCACTCCACCGTCTCTGGGCTGAAAATGAGGAGTGTCAAATACTCCTCTCCTCCCCAACAACTCTGTAGGAGTTCAGACTCAAACTCACCCCACAGATCCCATCACACTCCTATCCTGCCAGACCGCCACCTCCAACCGCCGCCACCAGAGGGCGCCAGGAGCAATGCTGACCTGGTGACGCCCGGCTCCAAGGTCCCCCGCTGCTGCCCCTCCTGTCCCCTCTCCCGTCCAAGCTCACACCACCCAGCAAAGCTGCCCTGCCTGGCGGTCCTGCACACCCACCTGCGCTGTTGTGATGCTCACCTCC... | ACAGGTCTGAGGCCACTCCACCGTCTCTGGGCTGAAAATGAGGAGTGTCAAATACTCCTCTCCTCCCCAACAACTCTGTAGGAGTTCAGACTCAAACTCACCCCACAGATCCCATCACACTCCTATCCTGCCAGACCGCCACCTCCAACCGCCGCCACCAGAGGGCGCCAGGAGCAATGCTGACCTGGTGACGCCCGGCTCCAAGGTCCCCCGCTGCTGCCCCTCCTGTCCCCTCTCCCGTCCAAGCTCACACCACCCAGCAAAGCTGCCCTGCCTGGCGGTCCTGCACACCCACCTGCGCTGTTGTGATGCTCACCTCC... | pathogenic | 238,658 |
The mutation in gene KIF7 (kinesin family member 7) at chromosome 15, position 89649916—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Acrocallosal_syndrome', 'Hydrolethalus_syndrome_2', 'Multiple_epiphyseal_dysplasia,_Al-Gazali_type'] | AGCTGGCCTGGGTGCCCTCTGCAAGCCATTTGGGTCATCTCTTGTAATTATCCATCGTATTTGTATTAATAATATCACCACTATTATTAGGAACAATTTACTGCGTCTTCACCGGCATGCTAGGCACATGTGACACCCTCAGCCCTTACAACATCCCCACTAAGAGATGGGGTAAGTCCTACGGTTATCCCTATTTTACAGCTGGAGACCTGAGACTCGGTGAAGTTAAGGAAGTGACCACGGTAATCAGCAGAAGTGACCGAATCCCGAACGTGCCCTGCTAATGGGCAGGAGGCAGGGGCGCAGCTGCTGTCTGAAGA... | AGCTGGCCTGGGTGCCCTCTGCAAGCCATTTGGGTCATCTCTTGTAATTATCCATCGTATTTGTATTAATAATATCACCACTATTATTAGGAACAATTTACTGCGTCTTCACCGGCATGCTAGGCACATGTGACACCCTCAGCCCTTACAACATCCCCACTAAGAGATGGGGTAAGTCCTACGGTTATCCCTATTTTACAGCTGGAGACCTGAGACTCGGTGAAGTTAAGGAAGTGACCACGGTAATCAGCAGAAGTGACCGAATCCCGAACGTGCCCTGCTAATGGGCAGGAGGCAGGGGCGCAGCTGCTGTCTGAAGA... | pathogenic | 238,666 |
Chromosome 15, position 89776601, gene MESP2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Spondylocostal_dysostosis_2,_autosomal_recessive'] | TATCCCTTACACAATCCCATGTAGATACTATCATTATTCCTGTTTTACTGAGCAGAAGCTCAAGCTCAAACAGGTTAAGGGCTCTGCCTAAGGGCATACAGCTACTGTCATACAATGGCCTGTTCACTTTTCTTTCCCACAAGACTGAAATCTCATTAGAGCAGAGACCATGACTAGCTCATTCACCCTGTGTGCTCGACATTTACTGGTTGCTAAATATGAATTCGGCCAGGCGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTAAGACCAGCCTGGC... | TATCCCTTACACAATCCCATGTAGATACTATCATTATTCCTGTTTTACTGAGCAGAAGCTCAAGCTCAAACAGGTTAAGGGCTCTGCCTAAGGGCATACAGCTACTGTCATACAATGGCCTGTTCACTTTTCTTTCCCACAAGACTGAAATCTCATTAGAGCAGAGACCATGACTAGCTCATTCACCCTGTGTGCTCGACATTTACTGGTTGCTAAATATGAATTCGGCCAGGCGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTAAGACCAGCCTGGC... | pathogenic | 238,732 |
Does the genetic variant at chromosome 15, position 89776612, impacting gene MESP2, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Spondylocostal_dysostosis_2,_autosomal_recessive'] | CAATCCCATGTAGATACTATCATTATTCCTGTTTTACTGAGCAGAAGCTCAAGCTCAAACAGGTTAAGGGCTCTGCCTAAGGGCATACAGCTACTGTCATACAATGGCCTGTTCACTTTTCTTTCCCACAAGACTGAAATCTCATTAGAGCAGAGACCATGACTAGCTCATTCACCCTGTGTGCTCGACATTTACTGGTTGCTAAATATGAATTCGGCCAGGCGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAA... | CAATCCCATGTAGATACTATCATTATTCCTGTTTTACTGAGCAGAAGCTCAAGCTCAAACAGGTTAAGGGCTCTGCCTAAGGGCATACAGCTACTGTCATACAATGGCCTGTTCACTTTTCTTTCCCACAAGACTGAAATCTCATTAGAGCAGAGACCATGACTAGCTCATTCACCCTGTGTGCTCGACATTTACTGGTTGCTAAATATGAATTCGGCCAGGCGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAA... | pathogenic | 238,733 |
Variant at chromosome 15, position 89776889, gene MESP2 (mesoderm posterior bHLH transcription factor 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ACTGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGACGATAGACCAAGTCTGTTTCAAAAACAAAAAAAAGAGAATAAATAAATAAATATGAATTAAATGAATAAAGTCCATTAGTGCCTTGAAATCTAAGTACTTTCCTTTTATTTTATTTATTTAT... | ACTGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGACGATAGACCAAGTCTGTTTCAAAAACAAAAAAAAGAGAATAAATAAATAAATATGAATTAAATGAATAAAGTCCATTAGTGCCTTGAAATCTAAGTACTTTCCTTTTATTTTATTTATTTAT... | benign | 238,741 |
Evaluate if the mutation on chromosome 15 at position 89776891 in MESP2 (mesoderm posterior bHLH transcription factor 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGACGATAGACCAAGTCTGTTTCAAAAACAAAAAAAAGAGAATAAATAAATAAATATGAATTAAATGAATAAAGTCCATTAGTGCCTTGAAATCTAAGTACTTTCCTTTTATTTTATTTATTTATTT... | TGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGACGATAGACCAAGTCTGTTTCAAAAACAAAAAAAAGAGAATAAATAAATAAATATGAATTAAATGAATAAAGTCCATTAGTGCCTTGAAATCTAAGTACTTTCCTTTTATTTTATTTATTTATTT... | benign | 238,742 |
Located at chromosome 15 position 89776903, the variant affecting gene MESP2 (mesoderm posterior bHLH transcription factor 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGACGATAGACCAAGTCTGTTTCAAAAACAAAAAAAAGAGAATAAATAAATAAATATGAATTAAATGAATAAAGTCCATTAGTGCCTTGAAATCTAAGTACTTTCCTTTTATTTTATTTATTTATTTATTTATTTACTT... | GTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGACGATAGACCAAGTCTGTTTCAAAAACAAAAAAAAGAGAATAAATAAATAAATATGAATTAAATGAATAAAGTCCATTAGTGCCTTGAAATCTAAGTACTTTCCTTTTATTTTATTTATTTATTTATTTATTTACTT... | benign | 238,743 |
Regarding the variant found on chromosome 15 at position 90231215 in gene CIB1 (calcium and integrin binding 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CCAGTCAGCCGAGGATGTAGTTGTTGCTGCCGTCGTCCCACCACCTCAGGGACCAGAGGGCTAGGTTGGCACTGCGGCCCTCACCAGGTCCTGGGCTCGGACCCAACTCCTGGACCTTTCCAGCCTGTATCAGGCTGTGGCCACACGAGAGGACAGCGCGAGCTCAGGAGAGATTTCGTGACAATGTACGCCTTTCCCTCAGAATTCAGGGAAGAGACTGTCGCCTGCCTTCCTCCGTTGTTGCGTGAGAACCCGTGTGCCCCTTCCCACCATATCCACCCTCGCTCCATCTTTGAACTCAAACACGAGGAACTAACTGC... | CCAGTCAGCCGAGGATGTAGTTGTTGCTGCCGTCGTCCCACCACCTCAGGGACCAGAGGGCTAGGTTGGCACTGCGGCCCTCACCAGGTCCTGGGCTCGGACCCAACTCCTGGACCTTTCCAGCCTGTATCAGGCTGTGGCCACACGAGAGGACAGCGCGAGCTCAGGAGAGATTTCGTGACAATGTACGCCTTTCCCTCAGAATTCAGGGAAGAGACTGTCGCCTGCCTTCCTCCGTTGTTGCGTGAGAACCCGTGTGCCCCTTCCCACCATATCCACCCTCGCTCCATCTTTGAACTCAAACACGAGGAACTAACTGC... | benign | 238,790 |
Determine whether the variant at chromosome 15, position 90747465, in gene BLM (BLM RecQ like helicase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bloom_syndrome'] | TGTTGTTTTTTGAAACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATATCTGCCTCCTAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCAGGGACCACAGGCCCGCACCACCATGCCAGGCTAATTTTTTTATAGTTCTTTAGAGACAGGGTTTTGCCATGTTGCCCAGCCTGGTCTCAAACTCCTGGGCTCAAGCGATCCGCTCACCTCAGCCTCCTAAAGTGCTGGGTCTATGGGCATGAGCCACTGCTGCCAGCCACGTGAATATACTGTATAGTAGTGAA... | TGTTGTTTTTTGAAACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATATCTGCCTCCTAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCAGGGACCACAGGCCCGCACCACCATGCCAGGCTAATTTTTTTATAGTTCTTTAGAGACAGGGTTTTGCCATGTTGCCCAGCCTGGTCTCAAACTCCTGGGCTCAAGCGATCCGCTCACCTCAGCCTCCTAAAGTGCTGGGTCTATGGGCATGAGCCACTGCTGCCAGCCACGTGAATATACTGTATAGTAGTGAA... | pathogenic | 238,805 |
Gene BLM (BLM RecQ like helicase) variant at chromosome 15, position 90749355—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAAGTCCTTCCTCCCCTCAAAAAACATTGTGATTAATGCAAAGTACCTAACTCCACTGATTTCTTTTTCCCTCACTTTTTAGGATTATGGCTGCTGTTCCTCAAAATAATCTACAGGAGCAACTAGAACGTCACTCAGCCAGAACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCGTAAGTGTTTTGACTGGTTTGCTGTCACATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTG... | CAAGTCCTTCCTCCCCTCAAAAAACATTGTGATTAATGCAAAGTACCTAACTCCACTGATTTCTTTTTCCCTCACTTTTTAGGATTATGGCTGCTGTTCCTCAAAATAATCTACAGGAGCAACTAGAACGTCACTCAGCCAGAACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCGTAAGTGTTTTGACTGGTTTGCTGTCACATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTG... | pathogenic | 238,816 |
Variant in BLM (BLM RecQ like helicase), chromosome 15, position 90749478—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGAACGTCACTCAGCCAGAACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCGTAAGTGTTTTGACTGGTTTGCTGTCACATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGT... | TAGAACGTCACTCAGCCAGAACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCGTAAGTGTTTTGACTGGTTTGCTGTCACATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGT... | pathogenic | 238,831 |
Chromosome 15, position 90749497, gene BLM (BLM RecQ like helicase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCGTAAGTGTTTTGACTGGTTTGCTGTCACATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTG... | AACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCGTAAGTGTTTTGACTGGTTTGCTGTCACATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTG... | pathogenic | 238,832 |
Variant at chromosome 15, position 90749562, gene BLM (BLM RecQ like helicase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTCACATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGA... | GTCACATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGA... | pathogenic | 238,843 |
Determine if the mutation at chromosome 15, position 90749566 in gene BLM (BLM RecQ like helicase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bloom_syndrome'] | CATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCT... | CATAGGCACTAACTTACCACATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCT... | pathogenic | 238,844 |
Evaluate the clinical significance of the mutation at chromosome 15, position 90749586 in gene BLM (BLM RecQ like helicase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bloom_syndrome', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGG... | ATTGTACACATGAGATATCTTCTCTTTAAACTCCCCCATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGG... | pathogenic | 238,847 |
Considering the genetic mutation at chromosome 15, position 90749623, impacting BLM (BLM RecQ like helicase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bloom_syndrome'] | ATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCG... | ATTGTACAGATGAGGAAATGAAGCTGAGAGATTCATTGATTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCG... | pathogenic | 238,853 |
Variant in gene BLM (BLM RecQ like helicase), located at chromosome 15 position 90749662: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG... | TTTTCCCACTTTGCCAATTAATGGTAGAGTATGTTTTAGCAGCACCAGGTGAGATTGTGTCTCATCTTTGCATGGTTCCTGGCACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG... | pathogenic | 238,857 |
Mutation found at chromosome 15 position 90749745, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCC... | ACATAATATTTGCTCAATAAAGATTTGTTGAGTAAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCC... | pathogenic | 238,873 |
Variant in BLM (BLM RecQ like helicase), chromosome 15, position 90749778—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA... | AAATGAATAATTGATCTTGTAAATTTGGGCAAATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA... | pathogenic | 238,878 |
Is the chromosome 15, position 90749810 variant in BLM (BLM RecQ like helicase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bloom_syndrome'] | ATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC... | ATAAGTGTTTTTTAAGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC... | pathogenic | 238,880 |
Considering the genetic mutation at chromosome 15, position 90749824, impacting BLM (BLM RecQ like helicase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bloom_syndrome'] | AGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACC... | AGTTTTGGGGGGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACC... | pathogenic | 238,883 |
Evaluate the clinical significance of the mutation at chromosome 15, position 90749836 in gene BLM (BLM RecQ like helicase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTT... | TTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTT... | pathogenic | 238,887 |
Is the variant located on chromosome 15 at position 90749844, gene BLM (BLM RecQ like helicase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTT... | TTTGTTTTGTTTTGTTTTGTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTT... | pathogenic | 238,888 |
Does the variant impacting BLM (BLM RecQ like helicase) on chromosome 15, position 90749867, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTC... | TTCTTTTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTC... | pathogenic | 238,889 |
Classify the chromosome 15 variant at position 90749872 affecting gene BLM (BLM RecQ like helicase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bloom_syndrome'] | TTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCT... | TTGAGACGGAGTCTCGCTCTGTCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCT... | pathogenic | 238,891 |
Variant in BLM (BLM RecQ like helicase), chromosome 15, position 90749893—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCC... | TCGCACAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCC... | pathogenic | 238,894 |
Determine whether the variant at chromosome 15, position 90749967, in gene BLM (BLM RecQ like helicase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCCATGGCACAATCTTAGCTCACCGCAACCTCCGTCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA... | TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCCATGGCACAATCTTAGCTCACCGCAACCTCCGTCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA... | pathogenic | 238,905 |
Considering the genetic mutation at chromosome 15, position 90749974, impacting BLM (BLM RecQ like helicase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCCATGGCACAATCTTAGCTCACCGCAACCTCCGTCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA... | GCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCCATGGCACAATCTTAGCTCACCGCAACCTCCGTCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA... | pathogenic | 238,907 |
Variant on chromosome 15, at position 90749995, affecting BLM (BLM RecQ like helicase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bloom_syndrome'] | ACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCCATGGCACAATCTTAGCTCACCGCAACCTCCGTCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATG... | ACAGGCACCTGCCACCACGCCTGGCTAATTTTTTTTTGTATTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCCATGGCACAATCTTAGCTCACCGCAACCTCCGTCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATG... | pathogenic | 238,912 |
The mutation in gene BLM (BLM RecQ like helicase) at chromosome 15, position 90750035—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCCATGGCACAATCTTAGCTCACCGCAACCTCCGTCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGATTTGTC... | TTTTTTAGAGACGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCGTGCCCAGCCTTTTTTTTTTTTTCTTTTTTGAGACGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCCATGGCACAATCTTAGCTCACCGCAACCTCCGTCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGATTTGTC... | pathogenic | 238,915 |
Is the chromosome 15, position 90751823 variant in BLM (BLM RecQ like helicase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTACACCACCCCAAAGTCACTTTGTAAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGGTAACAATTATTTTATCTTCATTTTAG... | TGTTACACCACCCCAAAGTCACTTTGTAAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGGTAACAATTATTTTATCTTCATTTTAG... | pathogenic | 238,925 |
Gene BLM (BLM RecQ like helicase) variant at chromosome position 90751839 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bloom_syndrome'] | AGTCACTTTGTAAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGGTAACAATTATTTTATCTTCATTTTAGTATGTTCATTGTACTT... | AGTCACTTTGTAAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGGTAACAATTATTTTATCTTCATTTTAGTATGTTCATTGTACTT... | pathogenic | 238,927 |
A mutation at chromosome position 90751850 on chromosome 15 in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bloom_syndrome'] | AAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGGTAACAATTATTTTATCTTCATTTTAGTATGTTCATTGTACTTTTTTATTCAAA... | AAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGGTAACAATTATTTTATCTTCATTTTAGTATGTTCATTGTACTTTTTTATTCAAA... | pathogenic | 238,930 |
Clinical significance of chromosome 15, position 90751927, gene BLM (BLM RecQ like helicase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGGTAACAATTATTTTATCTTCATTTTAGTATGTTCATTGTACTTTTTTATTCAAAGCTAGCCATTGGGAATAGTCATGAATATATAGAGCTTTTGTCCTTAAGGTTGTTAGGGTCTTTAGTGGTGCTTTTTG... | TAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGGTAACAATTATTTTATCTTCATTTTAGTATGTTCATTGTACTTTTTTATTCAAAGCTAGCCATTGGGAATAGTCATGAATATATAGAGCTTTTGTCCTTAAGGTTGTTAGGGTCTTTAGTGGTGCTTTTTG... | pathogenic | 238,941 |
Regarding the variant found on chromosome 15 at position 90754834 in gene BLM (BLM RecQ like helicase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTTGAGTGGTAGAGTATAGTATATACTAAACTGAGCAAAAGTTTATATAGAGTCTCAATTCTAAACCAGCATTCTCATTTACCAGGTGAAACAGCTGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAG... | CAGTTGAGTGGTAGAGTATAGTATATACTAAACTGAGCAAAAGTTTATATAGAGTCTCAATTCTAAACCAGCATTCTCATTTACCAGGTGAAACAGCTGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAG... | pathogenic | 238,951 |
Variant in gene BLM (BLM RecQ like helicase), located at chromosome 15 position 90754838: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGTGGTAGAGTATAGTATATACTAAACTGAGCAAAAGTTTATATAGAGTCTCAATTCTAAACCAGCATTCTCATTTACCAGGTGAAACAGCTGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAGTGGC... | TGAGTGGTAGAGTATAGTATATACTAAACTGAGCAAAAGTTTATATAGAGTCTCAATTCTAAACCAGCATTCTCATTTACCAGGTGAAACAGCTGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAGTGGC... | pathogenic | 238,952 |
Variant at chromosome 15, position 90754853, gene BLM (BLM RecQ like helicase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bloom_syndrome'] | AGTATATACTAAACTGAGCAAAAGTTTATATAGAGTCTCAATTCTAAACCAGCATTCTCATTTACCAGGTGAAACAGCTGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAGTGGCCTGTAGTCCCATCTA... | AGTATATACTAAACTGAGCAAAAGTTTATATAGAGTCTCAATTCTAAACCAGCATTCTCATTTACCAGGTGAAACAGCTGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAGTGGCCTGTAGTCCCATCTA... | pathogenic | 238,955 |
Is the genetic change at chromosome 15, position 90754893, within gene BLM (BLM RecQ like helicase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bloom_syndrome'] | ATTCTAAACCAGCATTCTCATTTACCAGGTGAAACAGCTGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAGTGGCCTGTAGTCCCATCTACTCAGGAGGCTGAGGCAGGAGGATCCCTTAAGCCCAGGAG... | ATTCTAAACCAGCATTCTCATTTACCAGGTGAAACAGCTGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAGTGGCCTGTAGTCCCATCTACTCAGGAGGCTGAGGCAGGAGGATCCCTTAAGCCCAGGAG... | pathogenic | 238,961 |
Determine whether the variant at chromosome 15, position 90754931, in gene BLM (BLM RecQ like helicase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAGTGGCCTGTAGTCCCATCTACTCAGGAGGCTGAGGCAGGAGGATCCCTTAAGCCCAGGAGTTCAAGGCTGTAGTATGCTGTGATTATGCCTGTGAGTA... | TGAGGCCCAGGGAGGAGCAAGGAATTGCCCAGGTTGATACAATGAATGACAAATGGACTCAGATCCAGTGTAGTGCCTTCCCTGGTGTCATACTGATTCCTTGTTGAATGCCTGGCTTTTTTCTTTACTCATTAAAAATGTGTGTTACGCAAATAATATAATCATTTTAACAAGGATTCTAAATAAGAAGGAAGGAGCACTGCTGGGTGCGGTGGCATGGTAGTGGCCTGTAGTCCCATCTACTCAGGAGGCTGAGGCAGGAGGATCCCTTAAGCCCAGGAGTTCAAGGCTGTAGTATGCTGTGATTATGCCTGTGAGTA... | pathogenic | 238,965 |
Located at chromosome 15 position 90760186, the variant affecting gene BLM (BLM RecQ like helicase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCAGGCGCAGCTGAGGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCA... | CCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACCCAGGCGCAGCTGAGGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCA... | pathogenic | 238,974 |
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