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 |
|---|---|---|---|---|---|
Determine if the mutation at chromosome 10, position 71615524 in gene CDH23 (cadherin related 23) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | CCACTGTCTGCAGCTTCTGCCTGGCCTTGCCCAGCCCATACAGTGGACTGGGAGGACAGGTGAGAGTGGCCACTAGCCACTAACTTGGGTAGAAGTAAGCTGCCTTGCTGACCAGCACAGGCAGGTGACTCAGCATGGGTTGGCTGAGAATAGCTTCTGTCCCAAAGTCTAAAGTTAGAAGAGGAAATTGCCCCACCCTTGACTTTTTCCCTAGTTAATCCAAGAGAGGCTATGAGCCTCTGCTACATGCAGATCCCTTTAGAGTTGGGGAAGGGGAAGACCTGGGAGCTACAGCCACTTCCACGGTGATTCTGGTGTTC... | CCACTGTCTGCAGCTTCTGCCTGGCCTTGCCCAGCCCATACAGTGGACTGGGAGGACAGGTGAGAGTGGCCACTAGCCACTAACTTGGGTAGAAGTAAGCTGCCTTGCTGACCAGCACAGGCAGGTGACTCAGCATGGGTTGGCTGAGAATAGCTTCTGTCCCAAAGTCTAAAGTTAGAAGAGGAAATTGCCCCACCCTTGACTTTTTCCCTAGTTAATCCAAGAGAGGCTATGAGCCTCTGCTACATGCAGATCCCTTTAGAGTTGGGGAAGGGGAAGACCTGGGAGCTACAGCCACTTCCACGGTGATTCTGGTGTTC... | pathogenic | 162,133 |
Variant at chromosome 10, position 71615579, gene CDH23 (cadherin related 23): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Pituitary_adenoma_5,_multiple_types', 'Retinal_dystrophy', 'Usher_syndrome'] | ACAGGTGAGAGTGGCCACTAGCCACTAACTTGGGTAGAAGTAAGCTGCCTTGCTGACCAGCACAGGCAGGTGACTCAGCATGGGTTGGCTGAGAATAGCTTCTGTCCCAAAGTCTAAAGTTAGAAGAGGAAATTGCCCCACCCTTGACTTTTTCCCTAGTTAATCCAAGAGAGGCTATGAGCCTCTGCTACATGCAGATCCCTTTAGAGTTGGGGAAGGGGAAGACCTGGGAGCTACAGCCACTTCCACGGTGATTCTGGTGTTCACCTGCGTGTGTTGAAGGCTTGGGTATTAATTCTCTAACGTGGAATCGGTGTCCA... | ACAGGTGAGAGTGGCCACTAGCCACTAACTTGGGTAGAAGTAAGCTGCCTTGCTGACCAGCACAGGCAGGTGACTCAGCATGGGTTGGCTGAGAATAGCTTCTGTCCCAAAGTCTAAAGTTAGAAGAGGAAATTGCCCCACCCTTGACTTTTTCCCTAGTTAATCCAAGAGAGGCTATGAGCCTCTGCTACATGCAGATCCCTTTAGAGTTGGGGAAGGGGAAGACCTGGGAGCTACAGCCACTTCCACGGTGATTCTGGTGTTCACCTGCGTGTGTTGAAGGCTTGGGTATTAATTCTCTAACGTGGAATCGGTGTCCA... | pathogenic | 162,137 |
Variant in gene CDH23 (cadherin related 23), located at chromosome 10 position 71617344: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | TCCTTCTGGGACCCGTTGCTGTCTGCCGGCTGCTCCATGGACTCCAGGGCTCTTTCTATTACTCTTGAACCAGCATTCATTTCAAGTAACTGATGAGTCTTTAATGCCCAGAGAGGAGCCCTGGCCCCAGCTCCATGCCCCCCTGCCCCCAGCTCCATGCCCCCCTGCCCTGTGCCTGGTCACACCTGAATGCTTCTCTCTCTTGCAGGGAATACCAACAGCATCTTTGCCCTGGACTACATCAGCGGAGTGCTGACCTTGAATGGCCTGCTGGACCGGGAGAACCCCCTGTACAGCCATGGCTTCATCCTGACTGTGAA... | TCCTTCTGGGACCCGTTGCTGTCTGCCGGCTGCTCCATGGACTCCAGGGCTCTTTCTATTACTCTTGAACCAGCATTCATTTCAAGTAACTGATGAGTCTTTAATGCCCAGAGAGGAGCCCTGGCCCCAGCTCCATGCCCCCCTGCCCCCAGCTCCATGCCCCCCTGCCCTGTGCCTGGTCACACCTGAATGCTTCTCTCTCTTGCAGGGAATACCAACAGCATCTTTGCCCTGGACTACATCAGCGGAGTGCTGACCTTGAATGGCCTGCTGGACCGGGAGAACCCCCTGTACAGCCATGGCTTCATCCTGACTGTGAA... | pathogenic | 162,147 |
Regarding the variant found on chromosome 10 at position 71645829 in gene CDH23 (cadherin related 23): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | GGTTCCTTCCTCCTCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTC... | GGTTCCTTCCTCCTCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTC... | pathogenic | 162,160 |
Benign or pathogenic: chromosome 10, position 71645829, gene CDH23 (cadherin related 23) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | GGTTCCTTCCTCCTCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTC... | GGTTCCTTCCTCCTCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTC... | pathogenic | 162,161 |
Gene CDH23 (cadherin related 23) variant at chromosome position 71646547 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | CACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACC... | CACTGGGGGTATCACTTCCTGATCATTCCCCCTCTGCCCTGAGCGGGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACC... | pathogenic | 162,170 |
Regarding the variant found on chromosome 10 at position 71646592 in gene CDH23 (cadherin related 23): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | GGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATC... | GGATGGGAACCAGCCTTGCAGGGACTATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATC... | pathogenic | 162,175 |
Assess the variant on chromosome 10, position 71682465, impacting CDH23 (cadherin related 23): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Usher_syndrome'] | CCCACAGTTAGTTCAGTTCAGAGAAATGCCACTGTAGAAATTGCAGTTCTGACCAGCGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGACCGGCGGATCAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGATACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGGGAGCCCAGGTTGCACCACTGCACTCCAGCCTGGTGACAGAGTGAC... | CCCACAGTTAGTTCAGTTCAGAGAAATGCCACTGTAGAAATTGCAGTTCTGACCAGCGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGACCGGCGGATCAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGATACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGGGAGCCCAGGTTGCACCACTGCACTCCAGCCTGGTGACAGAGTGAC... | pathogenic | 162,203 |
Assess the variant on chromosome 10, position 71682529, impacting CDH23 (cadherin related 23): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Rare_genetic_deafness', 'Usher_syndrome', 'Usher_syndrome_type_1D'] | CTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGACCGGCGGATCAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGATACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGGGAGCCCAGGTTGCACCACTGCACTCCAGCCTGGTGACAGAGTGACACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAATTGCATTCTCTATGAAATCTACATCCC... | CTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGACCGGCGGATCAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGATACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGGGAGCCCAGGTTGCACCACTGCACTCCAGCCTGGTGACAGAGTGACACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAATTGCATTCTCTATGAAATCTACATCCC... | pathogenic | 162,206 |
Variant chromosome 10, position 71695455, gene CDH23 (cadherin related 23): benign or pathogenic? Disease(s)? | pathogenic | TTTAATTGTTCAGATTTAGCACACTAAAACAACTCGAGGCAATGTAATTATGCTCTTCACAATGTAATTAGGAAATTATTTTATAACTATTAATTATCAATGCACGATAAGGTTGGATAGGTTGAACTGTCCAGTAATGAGTCACAAGTTAGACGCATGTGAACACCCGGTGTTTTTATTTCCTGTCATTGTATTTCTGTGACTGTATAAATAAACAGTGCCTGGCACTGTTCTAAGATTTCCATGATCTTAATTAAATTAACCCCACAATAGCCCTATGAGGTAGTTCCTATTATGGTTCCCTTTGGACCCTATGAGGA... | TTTAATTGTTCAGATTTAGCACACTAAAACAACTCGAGGCAATGTAATTATGCTCTTCACAATGTAATTAGGAAATTATTTTATAACTATTAATTATCAATGCACGATAAGGTTGGATAGGTTGAACTGTCCAGTAATGAGTCACAAGTTAGACGCATGTGAACACCCGGTGTTTTTATTTCCTGTCATTGTATTTCTGTGACTGTATAAATAAACAGTGCCTGGCACTGTTCTAAGATTTCCATGATCTTAATTAAATTAACCCCACAATAGCCCTATGAGGTAGTTCCTATTATGGTTCCCTTTGGACCCTATGAGGA... | pathogenic | 162,228 |
Is the chromosome 10, position 71702098 variant in CDH23 (cadherin related 23) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | TCCTCAGTTTCCCCATCCAGAAAAATAAAATAGGGAGAAAATCATCTCTCCCCCAGGCTGGGTGCGGTCGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAAGAGTTTGAGACCAACCTGGCCAACATGGTAAAACCTTGTCTCTATTAAAAATACAAAAATTAGCCAGGCGTGATGGCTTTTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCCAGAAGTGGAGATTACAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGATG... | TCCTCAGTTTCCCCATCCAGAAAAATAAAATAGGGAGAAAATCATCTCTCCCCCAGGCTGGGTGCGGTCGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAAGAGTTTGAGACCAACCTGGCCAACATGGTAAAACCTTGTCTCTATTAAAAATACAAAAATTAGCCAGGCGTGATGGCTTTTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCCAGAAGTGGAGATTACAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGATG... | pathogenic | 162,236 |
A mutation at chromosome position 71705097 on chromosome 10 in gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | CTCCCATGCCTTCTCATAAGCCCCGGATCAGCTCCCTTTACTACAGTAGAGGGGCCTCTGTCTACTTTGCAGGGCTCTAAAGAGACTTGCCCAAGACCCCTTGGCCAAGCACATGGTCTGATCTTGGGCCTGGCTTCTTTGCCTCCTGTTCCATCATCCTCTGATTAGAGGGATCCTGAAGGTGCTGGTTTAGGGGAGATGACATCCAGGGTTTCAAGTCCTTTCAACACCTCTGCCCTCCGGGGGCCATTCAGAAACACTGGAGACCCTCCTGGTTAAGAGCATGGGCCGTGGAGTCCAACCAACGGGGATGTGAATCC... | CTCCCATGCCTTCTCATAAGCCCCGGATCAGCTCCCTTTACTACAGTAGAGGGGCCTCTGTCTACTTTGCAGGGCTCTAAAGAGACTTGCCCAAGACCCCTTGGCCAAGCACATGGTCTGATCTTGGGCCTGGCTTCTTTGCCTCCTGTTCCATCATCCTCTGATTAGAGGGATCCTGAAGGTGCTGGTTTAGGGGAGATGACATCCAGGGTTTCAAGTCCTTTCAACACCTCTGCCCTCCGGGGGCCATTCAGAAACACTGGAGACCCTCCTGGTTAAGAGCATGGGCCGTGGAGTCCAACCAACGGGGATGTGAATCC... | pathogenic | 162,246 |
Evaluate the clinical significance of the mutation at chromosome 10, position 71706925 in gene CDH23 (cadherin related 23): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic | TCCCCACCCTCATGCTGCCCCTCCTTGCCCTCAGGTGGTGGCCATCGACCTCGATGAGGGCCTGAACGGCCTGGTGTCCTACCGCATGCCGGTGGGCATGCCCCGCATGGACTTCCTCATCAACAGCAGCAGCGGCGTGGTGGTCACCACCACCGAGCTGGACCGCGAGCGCATCGCGGAGTACCAGCTGCGGGTGGTGGCCAGTGATGCAGGCACGCCCACCAAGAGCTCCACCAGCACGCTCACCATCCATGGTGAGGGGGCGCAGGGGCTTCTGCTGTGTGCTCAGTGTGTGGGCACAGGCCTGGGTCAGGGGCAGG... | TCCCCACCCTCATGCTGCCCCTCCTTGCCCTCAGGTGGTGGCCATCGACCTCGATGAGGGCCTGAACGGCCTGGTGTCCTACCGCATGCCGGTGGGCATGCCCCGCATGGACTTCCTCATCAACAGCAGCAGCGGCGTGGTGGTCACCACCACCGAGCTGGACCGCGAGCGCATCGCGGAGTACCAGCTGCGGGTGGTGGCCAGTGATGCAGGCACGCCCACCAAGAGCTCCACCAGCACGCTCACCATCCATGGTGAGGGGGCGCAGGGGCTTCTGCTGTGTGCTCAGTGTGTGGGCACAGGCCTGGGTCAGGGGCAGG... | pathogenic | 162,251 |
Classify the chromosome 10 variant at position 71707017 affecting gene CDH23 (cadherin related 23) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12'] | TGGGCATGCCCCGCATGGACTTCCTCATCAACAGCAGCAGCGGCGTGGTGGTCACCACCACCGAGCTGGACCGCGAGCGCATCGCGGAGTACCAGCTGCGGGTGGTGGCCAGTGATGCAGGCACGCCCACCAAGAGCTCCACCAGCACGCTCACCATCCATGGTGAGGGGGCGCAGGGGCTTCTGCTGTGTGCTCAGTGTGTGGGCACAGGCCTGGGTCAGGGGCAGGGGTAGAGGGGAGCCCATGTCCCCCACTGCTGTCTATTGGACTTGTAGGCACAGGCTCCCTTGTTAATGAGGTGCCCTCCCCAGCTGGAGCCA... | TGGGCATGCCCCGCATGGACTTCCTCATCAACAGCAGCAGCGGCGTGGTGGTCACCACCACCGAGCTGGACCGCGAGCGCATCGCGGAGTACCAGCTGCGGGTGGTGGCCAGTGATGCAGGCACGCCCACCAAGAGCTCCACCAGCACGCTCACCATCCATGGTGAGGGGGCGCAGGGGCTTCTGCTGTGTGCTCAGTGTGTGGGCACAGGCCTGGGTCAGGGGCAGGGGTAGAGGGGAGCCCATGTCCCCCACTGCTGTCTATTGGACTTGTAGGCACAGGCTCCCTTGTTAATGAGGTGCCCTCCCCAGCTGGAGCCA... | pathogenic | 162,255 |
For chromosome 10, position 71734236, gene CDH23: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | AGCTGGACGAGGCCGTGCAGTTCTCCAATGCCTCATACGAGGCTGCCATCCTGGAGAATCTGGCACTGGGTACTGAGATTGTGCGGGTCCAGGCCTACTCCATCGACAACCTCAACCAAATCACGTACCGCTTCAACGCCTACACCAGCACCCAGGCCAAAGCCCTCTTCAAGATAGACGCCATCACGGTGAGGGGCTGGGGGCAGGGAGCACCATTTCTTCCAATCTAACCAACATTGGTTGAGCTCCTTCTGTGTGCACAGCACTCTCCTCTTTGTCATAAAATGTCCTTGAGATGGCCAAGTGTGGTGTTAGGTACC... | AGCTGGACGAGGCCGTGCAGTTCTCCAATGCCTCATACGAGGCTGCCATCCTGGAGAATCTGGCACTGGGTACTGAGATTGTGCGGGTCCAGGCCTACTCCATCGACAACCTCAACCAAATCACGTACCGCTTCAACGCCTACACCAGCACCCAGGCCAAAGCCCTCTTCAAGATAGACGCCATCACGGTGAGGGGCTGGGGGCAGGGAGCACCATTTCTTCCAATCTAACCAACATTGGTTGAGCTCCTTCTGTGTGCACAGCACTCTCCTCTTTGTCATAAAATGTCCTTGAGATGGCCAAGTGTGGTGTTAGGTACC... | pathogenic | 162,301 |
Clinical classification of chromosome 10, position 71741831, gene CDH23 (cadherin related 23): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1'] | GCCTCCCTTGGACTGAGAGACCACTGGCTAAGTGCCTAGACCGGTCACTACTCTCCATCCAGGAGAGAGCCTGTCCATCAGCACACTCTGGTGGTCAGTGCCCCTGCTGTCACCAAGTAACATGGGGCCAGCTGCACCCATCGGGGCCAAGAGCACAGTGAGGCTGACCCAGGATAGGGAAACCTGGGAGGGACCTTAGATACCCAGGAGGAGGTAGTTGAGGTGTCTTCCCCTGCTGTAAGAGCCAGGAGGATGAGGGAGAGCCTGGTGGAGCTGGGAGAGCCCCAGCTCTTCTACAAATACAGTGTGGCCTTGGACAG... | GCCTCCCTTGGACTGAGAGACCACTGGCTAAGTGCCTAGACCGGTCACTACTCTCCATCCAGGAGAGAGCCTGTCCATCAGCACACTCTGGTGGTCAGTGCCCCTGCTGTCACCAAGTAACATGGGGCCAGCTGCACCCATCGGGGCCAAGAGCACAGTGAGGCTGACCCAGGATAGGGAAACCTGGGAGGGACCTTAGATACCCAGGAGGAGGTAGTTGAGGTGTCTTCCCCTGCTGTAAGAGCCAGGAGGATGAGGGAGAGCCTGGTGGAGCTGGGAGAGCCCCAGCTCTTCTACAAATACAGTGTGGCCTTGGACAG... | pathogenic | 162,345 |
Gene CDH23 (cadherin related 23) variant at chromosome position 71778243 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | AGCAAACACCCAATGCCCTCCACCCCCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGG... | AGCAAACACCCAATGCCCTCCACCCCCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGG... | pathogenic | 162,370 |
Is the chromosome 10, position 71779332 variant in CDH23 (cadherin related 23) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | TAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCC... | TAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCC... | pathogenic | 162,383 |
Variant at chromosome position 71779377, chromosome 10, gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome', 'Usher_syndrome_type_1D'] | GGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCT... | GGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACATGGAGTGAGTTCAGCCCAGGAGAACAGCCATCTGGATCCACCTTGGTCCCTCTGGCCACCT... | pathogenic | 162,384 |
Mutation at chromosome 10, position 71790294, within CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Pituitary_adenoma_5,_multiple_types', 'Retinal_dystrophy'] | CACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAAGTGATCCGCCCACCTCAGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCATGTTGTTTTTTGACTTTTTAATAATAGCCGTTCTGACTGGTGTGAGAGGGTACCTCACTGTGGCTTATTGCATTTCTCTGATGATTAGCAACACTAAGCATTTTTTCTTTTTTTCTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCTGGGCTGGAGTGCAGTGGCGTGATATCCGCTCGCTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTC... | CACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAAGTGATCCGCCCACCTCAGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCATGTTGTTTTTTGACTTTTTAATAATAGCCGTTCTGACTGGTGTGAGAGGGTACCTCACTGTGGCTTATTGCATTTCTCTGATGATTAGCAACACTAAGCATTTTTTCTTTTTTTCTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCTGGGCTGGAGTGCAGTGGCGTGATATCCGCTCGCTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTC... | pathogenic | 162,414 |
Does the chromosome 10 mutation at position 71793271 within gene CDH23 (cadherin related 23) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | GCTGCTCAACAGCACGGCCCACCTGCTCATCACCATCCTGGATGACAATGACAACCGGCCCACCTTTAGCCCTGCCACCCTCACTGTCCATCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAA... | GCTGCTCAACAGCACGGCCCACCTGCTCATCACCATCCTGGATGACAATGACAACCGGCCCACCTTTAGCCCTGCCACCCTCACTGTCCATCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAA... | pathogenic | 162,433 |
Gene CDH23 (cadherin related 23) variant at chromosome 10, position 71793319—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Retinal_dystrophy', 'Usher_syndrome_type_1D'] | TGACAACCGGCCCACCTTTAGCCCTGCCACCCTCACTGTCCATCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTT... | TGACAACCGGCCCACCTTTAGCCCTGCCACCCTCACTGTCCATCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTT... | pathogenic | 162,434 |
Variant chromosome 10, position 71793327, gene CDH23 (cadherin related 23): benign or pathogenic? Disease(s)? | pathogenic | GGCCCACCTTTAGCCCTGCCACCCTCACTGTCCATCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACG... | GGCCCACCTTTAGCCCTGCCACCCTCACTGTCCATCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACG... | pathogenic | 162,435 |
Located at chromosome 10 position 71793361, the variant affecting gene CDH23 (cadherin related 23)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | TCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAA... | TCTGCTAGAGAACTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAA... | pathogenic | 162,436 |
Mutation found at chromosome 10 position 71793373, gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Usher_syndrome_type_1'] | CTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTC... | CTGCCCGCCTGGTAAGCAGGGGACAGGCCCCAGCACCCCACAACCAGGGGCCGGTTGGTGGTCACAGGGGACTGGAGCCTCAGGTTGGACACGGAGTTTGCCTCCAGTGGGGAGAAAGATGGGCAGCAGGGTGAGTGTAGAACACACTGGAGAGGGAGTCAGGAGACCTGGGCCCCTGCTTCCCTCCTCTGAGCTTCTGTATCTTGCCTGCAAAACAAGATTCTTTTTTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTC... | pathogenic | 162,438 |
Does the variant on chromosome 10 at location 71793600 affecting gene CDH23 (cadherin related 23) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | TTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCT... | TTCCTTTCTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCT... | pathogenic | 162,446 |
A genetic variant on chromosome 10, position 71793623, affects the gene CDH23 (cadherin related 23). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Retinal_dystrophy', 'Usher_syndrome_type_1D'] | TTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTACAAGATTCCTAAGTATT... | TTTTCTTTTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTACAAGATTCCTAAGTATT... | pathogenic | 162,447 |
Classify the chromosome 10 variant at position 71798353 affecting gene CDH23 (cadherin related 23) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome', 'Usher_syndrome_type_1D'] | GTCCCCGCCCATGCTTCTGGGGGGTTCCTCTCTGATTTGGGGAGCAGGCAGGGACTCTGGGAGGCAGTGGGTAGAACAGAAGGAAACCCCTTGCTAGGACTGCCATGGAACCAATGCTCCTGTCCCACAATCAGCCCATGTCACTCCCTATTTAATCAAGACAAAGGGATGGGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCA... | GTCCCCGCCCATGCTTCTGGGGGGTTCCTCTCTGATTTGGGGAGCAGGCAGGGACTCTGGGAGGCAGTGGGTAGAACAGAAGGAAACCCCTTGCTAGGACTGCCATGGAACCAATGCTCCTGTCCCACAATCAGCCCATGTCACTCCCTATTTAATCAAGACAAAGGGATGGGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCA... | pathogenic | 162,453 |
Is the genetic mutation found on chromosome 10 at position 71798465, within the gene CDH23 (cadherin related 23), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | AATGCTCCTGTCCCACAATCAGCCCATGTCACTCCCTATTTAATCAAGACAAAGGGATGGGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCATTTTAGCCACTTTTTAATTGTAGAGTCCAGTAGTGTTAAGTACATTTGCATTGTTAAGGAATACAGCAGTTTTTAAACAAGCAGTTACATAGCTTCTGTGTGCCACGCACTG... | AATGCTCCTGTCCCACAATCAGCCCATGTCACTCCCTATTTAATCAAGACAAAGGGATGGGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCATTTTAGCCACTTTTTAATTGTAGAGTCCAGTAGTGTTAAGTACATTTGCATTGTTAAGGAATACAGCAGTTTTTAAACAAGCAGTTACATAGCTTCTGTGTGCCACGCACTG... | pathogenic | 162,458 |
Evaluate this variant at chromosome 10, position 71798466, gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | ATGCTCCTGTCCCACAATCAGCCCATGTCACTCCCTATTTAATCAAGACAAAGGGATGGGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCATTTTAGCCACTTTTTAATTGTAGAGTCCAGTAGTGTTAAGTACATTTGCATTGTTAAGGAATACAGCAGTTTTTAAACAAGCAGTTACATAGCTTCTGTGTGCCACGCACTGT... | ATGCTCCTGTCCCACAATCAGCCCATGTCACTCCCTATTTAATCAAGACAAAGGGATGGGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCATTTTAGCCACTTTTTAATTGTAGAGTCCAGTAGTGTTAAGTACATTTGCATTGTTAAGGAATACAGCAGTTTTTAAACAAGCAGTTACATAGCTTCTGTGTGCCACGCACTGT... | pathogenic | 162,459 |
A genetic variant on chromosome 10, position 71798489, affects the gene CDH23 (cadherin related 23). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Pituitary_adenoma_5,_multiple_types', 'Rare_genetic_deafness', 'Usher_syndrome_type_1'] | CATGTCACTCCCTATTTAATCAAGACAAAGGGATGGGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCATTTTAGCCACTTTTTAATTGTAGAGTCCAGTAGTGTTAAGTACATTTGCATTGTTAAGGAATACAGCAGTTTTTAAACAAGCAGTTACATAGCTTCTGTGTGCCACGCACTGTTCTAAGTACTTTACAAATGGAAA... | CATGTCACTCCCTATTTAATCAAGACAAAGGGATGGGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCATTTTAGCCACTTTTTAATTGTAGAGTCCAGTAGTGTTAAGTACATTTGCATTGTTAAGGAATACAGCAGTTTTTAAACAAGCAGTTACATAGCTTCTGTGTGCCACGCACTGTTCTAAGTACTTTACAAATGGAAA... | pathogenic | 162,460 |
Determine if the mutation at chromosome 10, position 71798524 in gene CDH23 (cadherin related 23) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | GGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCATTTTAGCCACTTTTTAATTGTAGAGTCCAGTAGTGTTAAGTACATTTGCATTGTTAAGGAATACAGCAGTTTTTAAACAAGCAGTTACATAGCTTCTGTGTGCCACGCACTGTTCTAAGTACTTTACAAATGGAAACTCATTTTGTTTTTCTAATCCTCAAAATAGTAGGG... | GGCCTGAAGTATCCAGACGGTCCCACCACTGTCCCCTCCAGGGAACCCCTCAGGGCTTTTCAGCTACCATGACTTTCCTTTAAACTTGATCTCCCTAGAATCTAAGCATTTTTTAAATGGTGATAAAATACACATAACGAAATTTACCATTTTAGCCACTTTTTAATTGTAGAGTCCAGTAGTGTTAAGTACATTTGCATTGTTAAGGAATACAGCAGTTTTTAAACAAGCAGTTACATAGCTTCTGTGTGCCACGCACTGTTCTAAGTACTTTACAAATGGAAACTCATTTTGTTTTTCTAATCCTCAAAATAGTAGGG... | pathogenic | 162,461 |
Chromosome 10, position 71799540, gene CDH23 (cadherin related 23): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | TTGGTAGAGCCTGGAACAGATTGAGAAAAAATGGTTAGACAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGG... | TTGGTAGAGCCTGGAACAGATTGAGAAAAAATGGTTAGACAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGG... | pathogenic | 162,477 |
For chromosome 10, position 71805829, gene CDH23 (cadherin related 23): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | CCAACATAGTGAAACCCGATCTCTACTAAAAATGCAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGC... | CCAACATAGTGAAACCCGATCTCTACTAAAAATGCAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGC... | pathogenic | 162,501 |
Gene mutation in CDH23 at chromosome 10, position 71805919—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Hearing_loss,_autosomal_recessive', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1D'] | GCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATAC... | GCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATAC... | pathogenic | 162,504 |
Assess the variant on chromosome 10, position 71805985, impacting CDH23: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | ATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGA... | ATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGA... | pathogenic | 162,506 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 71806223, gene CDH23 (cadherin related 23). What disease(s) is it linked to if pathogenic? | benign | CCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCA... | CCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCA... | benign | 162,510 |
A genetic alteration at chromosome 10, position 71806248, in gene CDH23 (cadherin related 23)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types'] | AATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTC... | AATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGACAGCCTAGGAGCTGAGGCTGAGCATCAAAATAAGAAATGAGGGGAAGTGGCAAGGTTCTGGAATCTCTCCAGGTCTTCCACTTCTCGGTCTAAATTGCCATATAAAGATAGGGGAAGTATTCCTTTGTCTTCTGCTCTCCCCCTTTCTTCTAAGCACACAGGCCCAAAGTGCTCCGTAGTGGCACCATCAGAATGTCTCCCACTTGTTCTTTGTCCCCCAAACTCCACCCAGGCTCCACATCTCAGAATGTCCATGCTAAGTC... | pathogenic | 162,512 |
Regarding the variant at chromosome 10 and position 71807305, affecting gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Usher_syndrome_type_1D'] | TCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGAGAGAGCAAGACTGATACAGGACGAAGGGTGGCTGTGGCCTCAGCACTTAGATCCCCTCTGTCCCCAAAACCTCAGCATGCAATGAATGGGACTGGAAGGGCGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACT... | TCCAGGCAGGTTAGTAACAGACTAGACCCTGATGGCCAACCCCTATCCTATCCACCATGTCACCCTGCCTGTGTCCCCCCCATTTTCAGGTACCCCATTGGATGGATGGTGTTGTTTGGGGACACCCAGAATTCCTGTGTTTGGGGTAGCAGAGAGAGCAAGACTGATACAGGACGAAGGGTGGCTGTGGCCTCAGCACTTAGATCCCCTCTGTCCCCAAAACCTCAGCATGCAATGAATGGGACTGGAAGGGCGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACT... | pathogenic | 162,520 |
Does the genetic variant at chromosome 10, position 71807558, impacting gene CDH23 (cadherin related 23), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | CGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACTGTCAGTGCAATGGCCTTAGCTTGGGTTGGGGAGGAGAGAAGAGGGACAACAGCTAGCAGAAGCCCAGAATCCAGGAGAATCCAGCCGAGCAGGCAGGCGCTCCTGGCGGGTGCTGTAAGCTGTTGAGGACATTCTGCTACGGCAGGAGAAAGAGCAAGGGCTCCCTCAGGACCTAGGAGCTGAGATTCTTTCAGGGGTCCAGGAGCCTTCCTCCCCATGCTCCCCACAGGAGATCCCGCTGCGCTCCAACGTG... | CGGAGGCAGCTCCTGGGAAGATGGTCACCCTGGGAAGGCTTGAAGCATGTGGTTCTCAGGCTGGACTGTCAGTGCAATGGCCTTAGCTTGGGTTGGGGAGGAGAGAAGAGGGACAACAGCTAGCAGAAGCCCAGAATCCAGGAGAATCCAGCCGAGCAGGCAGGCGCTCCTGGCGGGTGCTGTAAGCTGTTGAGGACATTCTGCTACGGCAGGAGAAAGAGCAAGGGCTCCCTCAGGACCTAGGAGCTGAGATTCTTTCAGGGGTCCAGGAGCCTTCCTCCCCATGCTCCCCACAGGAGATCCCGCTGCGCTCCAACGTG... | pathogenic | 162,527 |
The mutation impacting CDH23 (cadherin related 23) on chromosome 10 at position 71811411: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Pituitary_adenoma_5,_multiple_types', 'Rare_genetic_deafness'] | CAGATGGGGTTTCATCATGTTGGCCAGGCTAGTCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGTTGAGATTCAGGCGTGAGCCACCACACCCGGGCTTATTTGTGGAATTCTGAGGTACATGTGTTTGAAAGAGAGAGGAGAAACAGACAGACACTCAGGGGGCTCAGAAATGGTCCTTCGCACCCTAGCATGGGACAACAGAGTCACAAACTTGTCATCCGCACTCCCCTGTGATGATAACCGGCTGAGACCCGAGCCATTTCCACTTCAGATGGGCATCGTTCCCACTTGCCTGTCACC... | CAGATGGGGTTTCATCATGTTGGCCAGGCTAGTCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGTTGAGATTCAGGCGTGAGCCACCACACCCGGGCTTATTTGTGGAATTCTGAGGTACATGTGTTTGAAAGAGAGAGGAGAAACAGACAGACACTCAGGGGGCTCAGAAATGGTCCTTCGCACCCTAGCATGGGACAACAGAGTCACAAACTTGTCATCCGCACTCCCCTGTGATGATAACCGGCTGAGACCCGAGCCATTTCCACTTCAGATGGGCATCGTTCCCACTTGCCTGTCACC... | pathogenic | 162,552 |
Does the genetic variant at chromosome 10, position 71811555, impacting gene CDH23 (cadherin related 23), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Usher_syndrome_type_1D'] | TTGAAAGAGAGAGGAGAAACAGACAGACACTCAGGGGGCTCAGAAATGGTCCTTCGCACCCTAGCATGGGACAACAGAGTCACAAACTTGTCATCCGCACTCCCCTGTGATGATAACCGGCTGAGACCCGAGCCATTTCCACTTCAGATGGGCATCGTTCCCACTTGCCTGTCACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCAT... | TTGAAAGAGAGAGGAGAAACAGACAGACACTCAGGGGGCTCAGAAATGGTCCTTCGCACCCTAGCATGGGACAACAGAGTCACAAACTTGTCATCCGCACTCCCCTGTGATGATAACCGGCTGAGACCCGAGCCATTTCCACTTCAGATGGGCATCGTTCCCACTTGCCTGTCACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCAT... | pathogenic | 162,558 |
Clinical significance of chromosome 10, position 71811565, gene CDH23 (cadherin related 23): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | GAGGAGAAACAGACAGACACTCAGGGGGCTCAGAAATGGTCCTTCGCACCCTAGCATGGGACAACAGAGTCACAAACTTGTCATCCGCACTCCCCTGTGATGATAACCGGCTGAGACCCGAGCCATTTCCACTTCAGATGGGCATCGTTCCCACTTGCCTGTCACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCATGGACGGCATT... | GAGGAGAAACAGACAGACACTCAGGGGGCTCAGAAATGGTCCTTCGCACCCTAGCATGGGACAACAGAGTCACAAACTTGTCATCCGCACTCCCCTGTGATGATAACCGGCTGAGACCCGAGCCATTTCCACTTCAGATGGGCATCGTTCCCACTTGCCTGTCACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCATGGACGGCATT... | pathogenic | 162,559 |
Variant at chromosome position 71811710, chromosome 10, gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12', 'Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1D'] | CGTTCCCACTTGCCTGTCACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCATGGACGGCATTCTGCGCACCTTCGACCTCTTCATGGCCTACAGCCCCGGCTACTTCGTGGTGGACATTGTGGCCCGAGACCTGGCAGGCCACAACGACACGGCCATCATCGGCATCTACATCCTGAGGGACGACCAGCGCGTCAAGATCGTCATTA... | CGTTCCCACTTGCCTGTCACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCATGGACGGCATTCTGCGCACCTTCGACCTCTTCATGGCCTACAGCCCCGGCTACTTCGTGGTGGACATTGTGGCCCGAGACCTGGCAGGCCACAACGACACGGCCATCATCGGCATCTACATCCTGAGGGACGACCAGCGCGTCAAGATCGTCATTA... | pathogenic | 162,562 |
Mutation found at chromosome 10 position 71811716, gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Pituitary_adenoma_5,_multiple_types', 'Usher_syndrome_type_1'] | CACTTGCCTGTCACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCATGGACGGCATTCTGCGCACCTTCGACCTCTTCATGGCCTACAGCCCCGGCTACTTCGTGGTGGACATTGTGGCCCGAGACCTGGCAGGCCACAACGACACGGCCATCATCGGCATCTACATCCTGAGGGACGACCAGCGCGTCAAGATCGTCATTAACGAGA... | CACTTGCCTGTCACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCATGGACGGCATTCTGCGCACCTTCGACCTCTTCATGGCCTACAGCCCCGGCTACTTCGTGGTGGACATTGTGGCCCGAGACCTGGCAGGCCACAACGACACGGCCATCATCGGCATCTACATCCTGAGGGACGACCAGCGCGTCAAGATCGTCATTAACGAGA... | pathogenic | 162,563 |
Regarding the variant at chromosome 10 and position 71811728, affecting gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | ACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCATGGACGGCATTCTGCGCACCTTCGACCTCTTCATGGCCTACAGCCCCGGCTACTTCGTGGTGGACATTGTGGCCCGAGACCTGGCAGGCCACAACGACACGGCCATCATCGGCATCTACATCCTGAGGGACGACCAGCGCGTCAAGATCGTCATTAACGAGATCCCCGACCGTG... | ACCTTTGCTCCCTGCTGTGCCCTGTGGGCATTTGTGCCGCCTCCCCTAGATGTGCCCACCTACCCCAGGGCTCATGCCCCTTCCTGGGGATTCGGGGCACTGAGTCTCTGAGCCGTACCCCGCCTTTGGGCTTCCTGCAGGGAGCATGGACGGCATTCTGCGCACCTTCGACCTCTTCATGGCCTACAGCCCCGGCTACTTCGTGGTGGACATTGTGGCCCGAGACCTGGCAGGCCACAACGACACGGCCATCATCGGCATCTACATCCTGAGGGACGACCAGCGCGTCAAGATCGTCATTAACGAGATCCCCGACCGTG... | pathogenic | 162,564 |
The chromosome 10, position 71812007 genetic variant in gene CDH23 (cadherin related 23): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | CCAGCGCGTCAAGATCGTCATTAACGAGATCCCCGACCGTGTGCGCGGCTTCGAGGAGGAGTTCATCCACCTGCTCTCCAACATCACTGGGGCCATTGTCAATACTGACAATGTGCAGGTGCCTCATGGGCCCACCCGGGGCCGGGGCAGTGGAGGGAGAAGGAAGGGGAGGCCAGGCCACAAGGAGAGACAGGGCATTGTGCAAAGGCCAGGGCGTGAAAGGCAGTATAGTCCCTACTTAGTCATTTCCTATCAGTGCAGCTTTGATAAAGTTCTCCCAGGTCTCTGGGCCTCAGTTTCCTCTTCCATAAAATGGGGCC... | CCAGCGCGTCAAGATCGTCATTAACGAGATCCCCGACCGTGTGCGCGGCTTCGAGGAGGAGTTCATCCACCTGCTCTCCAACATCACTGGGGCCATTGTCAATACTGACAATGTGCAGGTGCCTCATGGGCCCACCCGGGGCCGGGGCAGTGGAGGGAGAAGGAAGGGGAGGCCAGGCCACAAGGAGAGACAGGGCATTGTGCAAAGGCCAGGGCGTGAAAGGCAGTATAGTCCCTACTTAGTCATTTCCTATCAGTGCAGCTTTGATAAAGTTCTCCCAGGTCTCTGGGCCTCAGTTTCCTCTTCCATAAAATGGGGCC... | pathogenic | 162,570 |
A genetic variant on chromosome 10, position 71812487, affects the gene CDH23 (cadherin related 23). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_12'] | TGGCCACACCCTACAATACCCCTTCTCATCTAGTTCCATGTGGACAAGAAGGGCCGGGTGAACTTTGCGCAGACAGAACTGCTTATCCACGTGGTGAACCGCGATACCAACCGCATCCTGGACGTGGACCGGTGAGTCGGGGCCTGTGTTTGGACTGTCAGCCTGTCTGTCTGCCTGCCTCCCTGCCCTGGAGTAGGGGAGGGGACACACCAAAGGAGACACAGACCACACCATCAGGCCCACTGTGTGGGGCCATCTCCCAGACTGGGGCAGGGCTAGGAGAGAGAGCAGAGTTTGGGGGTATGAGCAACTCTGTCCCT... | TGGCCACACCCTACAATACCCCTTCTCATCTAGTTCCATGTGGACAAGAAGGGCCGGGTGAACTTTGCGCAGACAGAACTGCTTATCCACGTGGTGAACCGCGATACCAACCGCATCCTGGACGTGGACCGGTGAGTCGGGGCCTGTGTTTGGACTGTCAGCCTGTCTGTCTGCCTGCCTCCCTGCCCTGGAGTAGGGGAGGGGACACACCAAAGGAGACACAGACCACACCATCAGGCCCACTGTGTGGGGCCATCTCCCAGACTGGGGCAGGGCTAGGAGAGAGAGCAGAGTTTGGGGGTATGAGCAACTCTGTCCCT... | pathogenic | 162,575 |
Determine if the mutation at chromosome 10, position 71812565 in gene CDH23 (cadherin related 23) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Pituitary_adenoma_5,_multiple_types'] | CTGCTTATCCACGTGGTGAACCGCGATACCAACCGCATCCTGGACGTGGACCGGTGAGTCGGGGCCTGTGTTTGGACTGTCAGCCTGTCTGTCTGCCTGCCTCCCTGCCCTGGAGTAGGGGAGGGGACACACCAAAGGAGACACAGACCACACCATCAGGCCCACTGTGTGGGGCCATCTCCCAGACTGGGGCAGGGCTAGGAGAGAGAGCAGAGTTTGGGGGTATGAGCAACTCTGTCCCTCTGAGCCTCCCTCTCCCCATCTGTAACATGGGAGTATTCAGGCCATGCGCAGTGGCTCACACCTGTAATCCCAGCACT... | CTGCTTATCCACGTGGTGAACCGCGATACCAACCGCATCCTGGACGTGGACCGGTGAGTCGGGGCCTGTGTTTGGACTGTCAGCCTGTCTGTCTGCCTGCCTCCCTGCCCTGGAGTAGGGGAGGGGACACACCAAAGGAGACACAGACCACACCATCAGGCCCACTGTGTGGGGCCATCTCCCAGACTGGGGCAGGGCTAGGAGAGAGAGCAGAGTTTGGGGGTATGAGCAACTCTGTCCCTCTGAGCCTCCCTCTCCCCATCTGTAACATGGGAGTATTCAGGCCATGCGCAGTGGCTCACACCTGTAATCCCAGCACT... | pathogenic | 162,577 |
Is the genetic variant on chromosome 10, position 71812882, gene CDH23 (cadherin related 23), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Pituitary_adenoma_5,_multiple_types', 'Rare_genetic_deafness', 'Usher_syndrome_type_1'] | ACTTTGGGAGGCCAAGCCAGGTGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAATATTAGTTGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGTGGAGTTTGCAGTGGGCTGAGATCATGCCACACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGGAGTATTCCATCCACTGTAAGGATGGAACAGGATCCTACATGAAGGTT... | ACTTTGGGAGGCCAAGCCAGGTGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAATATTAGTTGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGTGGAGTTTGCAGTGGGCTGAGATCATGCCACACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGGAGTATTCCATCCACTGTAAGGATGGAACAGGATCCTACATGAAGGTT... | pathogenic | 162,583 |
Gene PSAP (prosaposin) variant at chromosome 10, position 71821955—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Combined_PSAP_deficiency', 'Gaucher_disease_due_to_saposin_C_deficiency', 'Krabbe_disease_due_to_saposin_A_deficiency', 'Parkinson_disease_24,_autosomal_dominant,_susceptibility_to', 'Sphingolipid_activator_protein_1_deficiency'] | CACACGAGAGGATCGTGTGAGAAGACGGGAGGCCGGACAAGGGTTGGGGGACATTCTGAAAATACTAACATGGCCAGGAAATGAGTCAATGGTGGGTGCCGTTTCCACCCACAAAAAACTACCAAACTACAAAGCAGGGCAATGGTGTCCACCTCCCCGGACCCCCGCCAGCCTAGAGGTCCCACTGGTGAGGATTGCCTTCCACGAGATGGGGACATGGCTGTACACATGTCAAGGCTGGGCCAAGCCCTCTCTCCTGTGGGACTTTCCCACTGGGACATTCAGGCTCGGGGGGGCAGGAGAGGCCCTCCCTCTGCCAG... | CACACGAGAGGATCGTGTGAGAAGACGGGAGGCCGGACAAGGGTTGGGGGACATTCTGAAAATACTAACATGGCCAGGAAATGAGTCAATGGTGGGTGCCGTTTCCACCCACAAAAAACTACCAAACTACAAAGCAGGGCAATGGTGTCCACCTCCCCGGACCCCCGCCAGCCTAGAGGTCCCACTGGTGAGGATTGCCTTCCACGAGATGGGGACATGGCTGTACACATGTCAAGGCTGGGCCAAGCCCTCTCTCCTGTGGGACTTTCCCACTGGGACATTCAGGCTCGGGGGGGCAGGAGAGGCCCTCCCTCTGCCAG... | pathogenic | 162,624 |
Determine whether the variant at chromosome 10, position 71828008, in gene PSAP (prosaposin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Sphingolipid_activator_protein_1_deficiency'] | AACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATT... | AACCCCCCAGCATTTCCAACAGTGTCAACTGGTGACTATCAAGCAAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATT... | pathogenic | 162,630 |
Gene PSAP (prosaposin) variant at chromosome position 71828052 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Combined_PSAP_deficiency', 'Gaucher_disease_due_to_saposin_C_deficiency', 'Krabbe_disease_due_to_saposin_A_deficiency', 'Metachromatic_leukodystrophy', 'PSAP-related_disorder', 'Parkinson_disease_24,_autosomal_dominant,_susceptibility_to', 'Sphingolipid_activator_protein_1_deficiency'] | AAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGT... | AAGTTTCTAAAGTAGAATTTTATGAATGTCTGCTCTGGGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGT... | pathogenic | 162,631 |
Mutation at chromosome 10, position 72007196, within CHST3 (carbohydrate sulfotransferase 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | CAATTAGTGGGTAGAGGCCAAGACTGCTGTCAAACATTCTATAATTCACAGGACAGTCCCCACTTACCTGGTGGAAAATGTCAACAGTGCTGAGGTTGGGAAGCCCCGTCCTGCATAAGCACAGGGTCTGCACCTTTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTTCTCATGTATTTTCTGGATCATTCACATTTATACATCCACCTCATTATTCTTTGTGGCCACATAAAAATCCATTACCTGGATGCTCCACCATTTTCATTTAGGTGTTTGCACTCTTTTTGCTATTATAAACATTTATGCTACAAA... | CAATTAGTGGGTAGAGGCCAAGACTGCTGTCAAACATTCTATAATTCACAGGACAGTCCCCACTTACCTGGTGGAAAATGTCAACAGTGCTGAGGTTGGGAAGCCCCGTCCTGCATAAGCACAGGGTCTGCACCTTTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTTCTCATGTATTTTCTGGATCATTCACATTTATACATCCACCTCATTATTCTTTGTGGCCACATAAAAATCCATTACCTGGATGCTCCACCATTTTCATTTAGGTGTTTGCACTCTTTTTGCTATTATAAACATTTATGCTACAAA... | pathogenic | 162,671 |
Does the chromosome 10 mutation at position 72007558 within gene CHST3 (carbohydrate sulfotransferase 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations'] | AGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGC... | AGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGC... | pathogenic | 162,673 |
Does the variant on chromosome 10 at location 72008321 affecting gene CHST3 (carbohydrate sulfotransferase 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations'] | TTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTT... | TTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGGCCTTGCATTAGCAGCACATCCCCTATAGAAGTCTTGATGTCACTGAGCCCATGGAAAGGCAAGGTCCTAGTATGGATACTCTGATGGGCAAGGCTGCCAATGTGCAGCTGCCAAGTTGTGTACTGCTCAACTCCAGGGGCATGTCCCTCAAATAGGCTAATCTGGGAACGCCCCTT... | pathogenic | 162,679 |
Clinical classification of chromosome 10, position 72210786, gene ASCC1 (activating signal cointegrator 1 complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['ASCC1-related_disorder', 'Spinal_muscular_atrophy_with_congenital_bone_fractures_2'] | TGACAGAGTAAGACTCCATCTCAAAAAAAATGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTAGAGACCAATAAGCAGGCTATTTTAAGTAATCCACAGAAAAGGCAGAGAGGTAGCAGTGAAGATACAGACAGCTGGTAGATTCAAAAGATATTTAACACACTTGTAATGCCAGCCCACTGGGAGGCCAAGGCGGGTGGACTGCTTGAGTTCCAGAGTTCAAGACCGGCCTGGGCAATATGGAGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCCAGCTATTT... | TGACAGAGTAAGACTCCATCTCAAAAAAAATGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTAGAGACCAATAAGCAGGCTATTTTAAGTAATCCACAGAAAAGGCAGAGAGGTAGCAGTGAAGATACAGACAGCTGGTAGATTCAAAAGATATTTAACACACTTGTAATGCCAGCCCACTGGGAGGCCAAGGCGGGTGGACTGCTTGAGTTCCAGAGTTCAAGACCGGCCTGGGCAATATGGAGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCCAGCTATTT... | pathogenic | 162,738 |
Chromosome 10, position 72375875, gene MICU1 (mitochondrial calcium uptake 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CAAAAATCTGGAGAAAGTTAATATATGTCTACAGCACTGCTGTGCATTAGAACTCTCTGCGATGTGGGAAATGTTTTATATTTGTGCTATTCAATACAGTAGCCACTAGCTAGTTTAAATTTAAATGTAGCTAATAGCCACATGTGCCTTGGTGGTATCATACTGTGGACAGGGCAGCTCTAGAGAATAAACCCACCCCTACCTGAGAGTGAGGCCATCTCTTTAACCTAGCCCTAGGGCTTCCTTTGAGTTCAACCTTGGTTTTGTAGGTATAGGCTGGAGATTTATTTTATTTATTTAATTGTACTTTTTGAGACAGG... | CAAAAATCTGGAGAAAGTTAATATATGTCTACAGCACTGCTGTGCATTAGAACTCTCTGCGATGTGGGAAATGTTTTATATTTGTGCTATTCAATACAGTAGCCACTAGCTAGTTTAAATTTAAATGTAGCTAATAGCCACATGTGCCTTGGTGGTATCATACTGTGGACAGGGCAGCTCTAGAGAATAAACCCACCCCTACCTGAGAGTGAGGCCATCTCTTTAACCTAGCCCTAGGGCTTCCTTTGAGTTCAACCTTGGTTTTGTAGGTATAGGCTGGAGATTTATTTTATTTATTTAATTGTACTTTTTGAGACAGG... | benign | 162,749 |
Is the genetic variant on chromosome 10, position 72508167, gene MICU1 (mitochondrial calcium uptake 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | CACATTCAAACTAGGAGTTGAGCACCATAAAGTAAATGTGCTGGGAATGGCAGAGCTACTTGGAGGGGTTTCTAGAACCCAAGGGTCATTGTGACTTTTTAAAAACAAGCTTTTAAGTGGTTAAGGGAGCTATGCGATGTACCAGGTACTCTGAAGGTTCTGTTCTGTGTTCCTTCTGACATTTGGAAAGATATGAAGTTAACAGGACTAAGCAGTGGACACAAGTTCAAAGCTTATTTCAGCTCAACAAACATTTGCTACAACTACTTACAAGTATACATTTTATACCAATGCAGGTCTCTTCATTTAATGCCATAGTC... | CACATTCAAACTAGGAGTTGAGCACCATAAAGTAAATGTGCTGGGAATGGCAGAGCTACTTGGAGGGGTTTCTAGAACCCAAGGGTCATTGTGACTTTTTAAAAACAAGCTTTTAAGTGGTTAAGGGAGCTATGCGATGTACCAGGTACTCTGAAGGTTCTGTTCTGTGTTCCTTCTGACATTTGGAAAGATATGAAGTTAACAGGACTAAGCAGTGGACACAAGTTCAAAGCTTATTTCAGCTCAACAAACATTTGCTACAACTACTTACAAGTATACATTTTATACCAATGCAGGTCTCTTCATTTAATGCCATAGTC... | pathogenic | 162,768 |
Benign or pathogenic: chromosome 10, position 72566753, gene MICU1 (mitochondrial calcium uptake 1) variant? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_disorder', 'Proximal_myopathy_with_extrapyramidal_signs'] | CTGGAATTGGTGAGGCAGAGGACTCAAAAGGAAAAAGTCACACAGAGAAAGAGCTCCAAAAATGTACACAGAACACTCTCGAGTATTGAGTCAACACTCAGCAGTGCATTCTTAGGATGAAACTACACAAAGTAGTTGCCAAGGAGCCACAGGCCAGTCAATTTCCAGAGCTCACAAGCAGGAAACAATCAAGCTCTACCAAGTCAGACTAGAGGAACCTCACTGAACACCCAAGGCATTTAGTAACATCCCAGAAAGATCATGCTATATTAATAGGGCTAAGATAGCTCTAGAGGCTGGGCATGGTGGCTCATGCCTGT... | CTGGAATTGGTGAGGCAGAGGACTCAAAAGGAAAAAGTCACACAGAGAAAGAGCTCCAAAAATGTACACAGAACACTCTCGAGTATTGAGTCAACACTCAGCAGTGCATTCTTAGGATGAAACTACACAAAGTAGTTGCCAAGGAGCCACAGGCCAGTCAATTTCCAGAGCTCACAAGCAGGAAACAATCAAGCTCTACCAAGTCAGACTAGAGGAACCTCACTGAACACCCAAGGCATTTAGTAACATCCCAGAAAGATCATGCTATATTAATAGGGCTAAGATAGCTCTAGAGGCTGGGCATGGTGGCTCATGCCTGT... | pathogenic | 162,784 |
Is chromosome 10, position 74043064, gene VCL (vinculin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCGACTAATTTTGTGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCCCAAACTCCTGGTTTCAAGTAATTCTCTCACCTTGGTCTCCCAAAGTGCTGGGAATGATAAGTGTGCACCACTGTGCCAGCCAGGATTTTTCTTACTCCATTTTTTTTTCCTTTAAACTCAATCAAAAGTTAAATGGTTAAATAGTAGGACTGACATATTTTCCATTCTGGGTTTTTTTAATTTCACAGATTTCTACATTAAAATATGGTTTATAAATATGATTTAGTACTCTTAGGTGGCTTTATATTGTTAAAATGGGTGAATTTCA... | CCGACTAATTTTGTGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCCCAAACTCCTGGTTTCAAGTAATTCTCTCACCTTGGTCTCCCAAAGTGCTGGGAATGATAAGTGTGCACCACTGTGCCAGCCAGGATTTTTCTTACTCCATTTTTTTTTCCTTTAAACTCAATCAAAAGTTAAATGGTTAAATAGTAGGACTGACATATTTTCCATTCTGGGTTTTTTTAATTTCACAGATTTCTACATTAAAATATGGTTTATAAATATGATTTAGTACTCTTAGGTGGCTTTATATTGTTAAAATGGGTGAATTTCA... | benign | 162,839 |
Chromosome 10, position 74589262, gene ADK (adenosine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTTTTCCTATTCCTTGATATCACCGCCAGCAAATGTTACTGACTATGTGATGTACAAAGTTCTAACCTTGCTTGCACAAATTGACCAGTTGTCAAGATCAATATTTATTTGCTTATTTTTGTCTACATGAACTAAGGGTAACTTGGTCAGGCTTATGTTTCTCTAGTAAATAGCGTAAGGAGTTGTACTTTCAACTTAACACTTCCTGTTGACTTCAGTGTTTAGCTGTAATCATACATTTTGACCTTTCTAAATCCTCAAAATGGTTCTCTAACCTATATGTTATTAGTACATTGGACCATAGGTGCATACATGTATTT... | CTTTTCCTATTCCTTGATATCACCGCCAGCAAATGTTACTGACTATGTGATGTACAAAGTTCTAACCTTGCTTGCACAAATTGACCAGTTGTCAAGATCAATATTTATTTGCTTATTTTTGTCTACATGAACTAAGGGTAACTTGGTCAGGCTTATGTTTCTCTAGTAAATAGCGTAAGGAGTTGTACTTTCAACTTAACACTTCCTGTTGACTTCAGTGTTTAGCTGTAATCATACATTTTGACCTTTCTAAATCCTCAAAATGGTTCTCTAACCTATATGTTATTAGTACATTGGACCATAGGTGCATACATGTATTT... | benign | 163,008 |
Clinically, how would you classify the variant at chromosome 10, position 74969644, gene KAT6B (lysine acetyltransferase 6B): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CTCTTGAGCTAAATAAAGGTAAGATTGCTGCCTAAAGGAAAGATAGGCTGAAGATTTTAGAATTTGATAGGGTAGCTTAAATAGTAGTAGTTGAGATACAGTATTGCTTAAAGTGAGAGAAACCATTAAGAGAAAGAATATTCCTTGCCCCTGATTGAAAATGGCTGAAATCCACTAATTTTCAAACTGCATAATTATTAAAAAGTCTGTCTTTCATAAGATACCTGTGAGAATAAATAGTAAGCTGTAATATGATGTGAATTACCTTAGTTACTGAATATTAAGTCACAAAGTACAAAAGCAGATTTGAATGTAGAGAA... | CTCTTGAGCTAAATAAAGGTAAGATTGCTGCCTAAAGGAAAGATAGGCTGAAGATTTTAGAATTTGATAGGGTAGCTTAAATAGTAGTAGTTGAGATACAGTATTGCTTAAAGTGAGAGAAACCATTAAGAGAAAGAATATTCCTTGCCCCTGATTGAAAATGGCTGAAATCCACTAATTTTCAAACTGCATAATTATTAAAAAGTCTGTCTTTCATAAGATACCTGTGAGAATAAATAGTAAGCTGTAATATGATGTGAATTACCTTAGTTACTGAATATTAAGTCACAAAGTACAAAAGCAGATTTGAATGTAGAGAA... | benign | 163,030 |
Evaluate if the mutation on chromosome 10 at position 75022093 in KAT6B (lysine acetyltransferase 6B) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ACAAAGCTTCAGATCAACCTGCTAGTTAAATGTAACAAGCAATATAGACTCTGAGTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGC... | ACAAAGCTTCAGATCAACCTGCTAGTTAAATGTAACAAGCAATATAGACTCTGAGTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGC... | benign | 163,079 |
Is the genetic variant on chromosome 10, position 75022105, gene KAT6B (lysine acetyltransferase 6B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ATCAACCTGCTAGTTAAATGTAACAAGCAATATAGACTCTGAGTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTT... | ATCAACCTGCTAGTTAAATGTAACAAGCAATATAGACTCTGAGTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTT... | benign | 163,081 |
Located at chromosome 10 position 75022110, the variant affecting gene KAT6B (lysine acetyltransferase 6B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type'] | CCTGCTAGTTAAATGTAACAAGCAATATAGACTCTGAGTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGT... | CCTGCTAGTTAAATGTAACAAGCAATATAGACTCTGAGTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGT... | pathogenic | 163,082 |
Evaluate the clinical significance of the mutation at chromosome 10, position 75022147 in gene KAT6B (lysine acetyltransferase 6B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGTGCCACTGTCAAAGATTCAGGAGCGTAAACTTCACGGA... | GTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGTGCCACTGTCAAAGATTCAGGAGCGTAAACTTCACGGA... | benign | 163,086 |
Clinically, how would you classify the variant at chromosome 10, position 75022147, gene KAT6B (lysine acetyltransferase 6B): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGTGCCACTGTCAAAGATTCAGGAGCGTAAACTTCACGGA... | GTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGTGCCACTGTCAAAGATTCAGGAGCGTAAACTTCACGGA... | benign | 163,087 |
Is the genetic mutation found on chromosome 10 at position 75022147, within the gene KAT6B (lysine acetyltransferase 6B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGTGCCACTGTCAAAGATTCAGGAGCGTAAACTTCACGGA... | GTCAACAGAGGTCCTTCTCTTTTTATTAAGACCCAGCTGTCAAAGGGTCATTAGGTCCTTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGTGCCACTGTCAAAGATTCAGGAGCGTAAACTTCACGGA... | benign | 163,088 |
Considering the variant on chromosome 10, location 75022205, involving gene KAT6B (lysine acetyltransferase 6B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type', 'Neurodevelopmental_disorder'] | TTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGTGCCACTGTCAAAGATTCAGGAGCGTAAACTTCACGGAGATCAAATCACTATAACTGGGAAGAGGCTACATTCCTAAAGCGAATGCACTTCTCTGT... | TTCCTGTGGAAAACAACTTGCCCATTAATGTTGGGGGTGGTCCCTCGACAGGATTTCTGAGTAAGTGCCTGACATTTCGTTTTTGAAAGAATCTAAAGCTGTGGGAGACTTAGATGTTGAGACTTAGCAGGAGTAATGTCTTCAACCATAGCTTTTAGTCTTTGTTAAATATGTCACAATATGTGTTTGGAATGCTGCTGCTAGCTGCGTGAATTGACTTAGAGTGCCACTGTCAAAGATTCAGGAGCGTAAACTTCACGGAGATCAAATCACTATAACTGGGAAGAGGCTACATTCCTAAAGCGAATGCACTTCTCTGT... | pathogenic | 163,091 |
Does the variant on chromosome 10 at location 75025165 affecting gene KAT6B (lysine acetyltransferase 6B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Genitopatellar_syndrome', 'KAT6B-realted_disoder', 'KAT6B-related_disorder'] | ATCTCCAATGGTACAGAAAGTAAAGAATTGACTTTGTTTTTAGGTAACTGCTCACCCAGATCTGATATCTTTGTCTTCAGTATCTATCTGGGACATAGAGGAGAGCCAAGACTGATAGAGATATCACAATACAAGCTAAGGCTCCGCCCCAAGGCCATCTGATGTGGCATCTGTTAGGGAACTTGCTGTTCTAACTCCCAGCTCAGCGCTCTTCTAGGCCTGGCAGTCTTCTGGAAGGGTCTCCATGGGGAGGTGGTAGAAAGGAGCATCCCACAAAGTAGACTTCAGGCTTAAGAATAATGTTTCCATTTCTTAGGAGG... | ATCTCCAATGGTACAGAAAGTAAAGAATTGACTTTGTTTTTAGGTAACTGCTCACCCAGATCTGATATCTTTGTCTTCAGTATCTATCTGGGACATAGAGGAGAGCCAAGACTGATAGAGATATCACAATACAAGCTAAGGCTCCGCCCCAAGGCCATCTGATGTGGCATCTGTTAGGGAACTTGCTGTTCTAACTCCCAGCTCAGCGCTCTTCTAGGCCTGGCAGTCTTCTGGAAGGGTCTCCATGGGGAGGTGGTAGAAAGGAGCATCCCACAAAGTAGACTTCAGGCTTAAGAATAATGTTTCCATTTCTTAGGAGG... | pathogenic | 163,097 |
The mutation in gene KAT6B (lysine acetyltransferase 6B) at chromosome 10, position 75028588—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Genitopatellar_syndrome', 'Inborn_genetic_diseases'] | TCACAGAAATGCTATTCCTGCATACAGTATTTTGCTGAAGGAATGACTTCTTACCCTGGGTATAGAGAAACCAAGCCTTATTCTTTGGGTTTTTTTTTTTTAAACAAATAACAAACTGCAGTGAGCGATCATTTTGTGTGTGAAAATGAGGTTTATTTCCCCTTCTTGGCTGTCTTCTCATATTATGCCTGATTCCTTTCAGGATGTCCTTCTTTCTTAAAAATAATTGTCAGAAAGCTCATCTTCTGATTTTGGGAGGTGTTCCAACAAAAGCCGGTAGGTCCAGTAGCACGTAGAATAAGAATGCAGAATCCAGCCAG... | TCACAGAAATGCTATTCCTGCATACAGTATTTTGCTGAAGGAATGACTTCTTACCCTGGGTATAGAGAAACCAAGCCTTATTCTTTGGGTTTTTTTTTTTTAAACAAATAACAAACTGCAGTGAGCGATCATTTTGTGTGTGAAAATGAGGTTTATTTCCCCTTCTTGGCTGTCTTCTCATATTATGCCTGATTCCTTTCAGGATGTCCTTCTTTCTTAAAAATAATTGTCAGAAAGCTCATCTTCTGATTTTGGGAGGTGTTCCAACAAAAGCCGGTAGGTCCAGTAGCACGTAGAATAAGAATGCAGAATCCAGCCAG... | pathogenic | 163,106 |
Variant on chromosome 10, at position 75028610, affecting KAT6B (lysine acetyltransferase 6B): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Genitopatellar_syndrome', 'Inborn_genetic_diseases', 'KAT6B-related_disorder'] | TACAGTATTTTGCTGAAGGAATGACTTCTTACCCTGGGTATAGAGAAACCAAGCCTTATTCTTTGGGTTTTTTTTTTTTAAACAAATAACAAACTGCAGTGAGCGATCATTTTGTGTGTGAAAATGAGGTTTATTTCCCCTTCTTGGCTGTCTTCTCATATTATGCCTGATTCCTTTCAGGATGTCCTTCTTTCTTAAAAATAATTGTCAGAAAGCTCATCTTCTGATTTTGGGAGGTGTTCCAACAAAAGCCGGTAGGTCCAGTAGCACGTAGAATAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAA... | TACAGTATTTTGCTGAAGGAATGACTTCTTACCCTGGGTATAGAGAAACCAAGCCTTATTCTTTGGGTTTTTTTTTTTTAAACAAATAACAAACTGCAGTGAGCGATCATTTTGTGTGTGAAAATGAGGTTTATTTCCCCTTCTTGGCTGTCTTCTCATATTATGCCTGATTCCTTTCAGGATGTCCTTCTTTCTTAAAAATAATTGTCAGAAAGCTCATCTTCTGATTTTGGGAGGTGTTCCAACAAAAGCCGGTAGGTCCAGTAGCACGTAGAATAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAA... | pathogenic | 163,107 |
Clinically, how would you classify the variant at chromosome 10, position 75028785, gene KAT6B (lysine acetyltransferase 6B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type'] | TTCAGGATGTCCTTCTTTCTTAAAAATAATTGTCAGAAAGCTCATCTTCTGATTTTGGGAGGTGTTCCAACAAAAGCCGGTAGGTCCAGTAGCACGTAGAATAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCT... | TTCAGGATGTCCTTCTTTCTTAAAAATAATTGTCAGAAAGCTCATCTTCTGATTTTGGGAGGTGTTCCAACAAAAGCCGGTAGGTCCAGTAGCACGTAGAATAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCT... | pathogenic | 163,111 |
Mutation at chromosome 10, position 75028821, within KAT6B (lysine acetyltransferase 6B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type', 'Genitopatellar_syndrome'] | AAAGCTCATCTTCTGATTTTGGGAGGTGTTCCAACAAAAGCCGGTAGGTCCAGTAGCACGTAGAATAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGAT... | AAAGCTCATCTTCTGATTTTGGGAGGTGTTCCAACAAAAGCCGGTAGGTCCAGTAGCACGTAGAATAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGAT... | pathogenic | 163,112 |
Gene KAT6B (lysine acetyltransferase 6B) variant at chromosome 10, position 75028886—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGG... | TAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGG... | benign | 163,114 |
Evaluate the clinical significance of the mutation at chromosome 10, position 75028886 in gene KAT6B (lysine acetyltransferase 6B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGG... | TAAGAATGCAGAATCCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGG... | benign | 163,115 |
Evaluate the clinical significance of the mutation at chromosome 10, position 75028901 in gene KAT6B (lysine acetyltransferase 6B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTG... | CAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTG... | benign | 163,117 |
Classify the chromosome 10 variant at position 75028901 affecting gene KAT6B (lysine acetyltransferase 6B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTG... | CAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTG... | benign | 163,118 |
Gene KAT6B (lysine acetyltransferase 6B) variant at chromosome 10, position 75028931—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTGGCATGGCTATTACCTGCCATTGTGAATAGA... | CCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTGGCATGGCTATTACCTGCCATTGTGAATAGA... | benign | 163,120 |
Is the genetic variant on chromosome 10, position 75028931, gene KAT6B (lysine acetyltransferase 6B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTGGCATGGCTATTACCTGCCATTGTGAATAGA... | CCCAGCACTTTGGGCGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACCAAAAGTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTGGCATGGCTATTACCTGCCATTGTGAATAGA... | benign | 163,121 |
Chromosome 10, position 75029026, gene KAT6B (lysine acetyltransferase 6B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type', 'Epilepsy,_familial_temporal_lobe,_1', 'Genitopatellar_syndrome', 'Inborn_genetic_diseases'] | GTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTGGCATGGCTATTACCTGCCATTGTGAATAGAAATGTCCTGAGATGACTCTTAACTCGGGCATGGTACTCGGCACTTCTCAAGGAAACATTCTACATCACATATGTGTTCTTTTCAGCTGGTCGGTT... | GTACAAAAAAATTAGCTGGGTGTGGTGATGCATGCCTGTAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAAAAAGAATGTGGAATCCGGGGGCACTGGCATGGCTATTACCTGCCATTGTGAATAGAAATGTCCTGAGATGACTCTTAACTCGGGCATGGTACTCGGCACTTCTCAAGGAAACATTCTACATCACATATGTGTTCTTTTCAGCTGGTCGGTT... | pathogenic | 163,123 |
Clinical classification of chromosome 10, position 75029723, gene KAT6B (lysine acetyltransferase 6B): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type'] | AGTAAAAAGCTCACCTGAACTGAAATGAACTTCACAATTATGGTTTGTTTCTAAGTGTCTTTAATATGCAAACCTTACATCAGCAACATATTGATCCAGAATTCAGTGTGGACAGAATTAGTGTTAAAAAGAATACCTGTATTTTAAATGTTCAGGAATTTGCTAGTAATTACATTGTAGTTTGTATCATGCAAAAATGATGATCCTAAAAATGATGATTACAAATGCATTTGTTTTGGGTATTTAGTTATTTACTGATTTGTTTCAGAGGTACACAGCTTATTTTTATGCCAGAGAGAACATTCAAATCAAAGTAAATA... | AGTAAAAAGCTCACCTGAACTGAAATGAACTTCACAATTATGGTTTGTTTCTAAGTGTCTTTAATATGCAAACCTTACATCAGCAACATATTGATCCAGAATTCAGTGTGGACAGAATTAGTGTTAAAAAGAATACCTGTATTTTAAATGTTCAGGAATTTGCTAGTAATTACATTGTAGTTTGTATCATGCAAAAATGATGATCCTAAAAATGATGATTACAAATGCATTTGTTTTGGGTATTTAGTTATTTACTGATTTGTTTCAGAGGTACACAGCTTATTTTTATGCCAGAGAGAACATTCAAATCAAAGTAAATA... | pathogenic | 163,149 |
Located at chromosome 10 position 75030015, the variant affecting gene KAT6B (lysine acetyltransferase 6B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type'] | AGAGAGAACATTCAAATCAAAGTAAATAAATCATGTCTTCCAAGATCATTTACATCCTATAAATGTCCACAAACAGAGGTTTACTTTCTCTAGGTAGATATGAGAGTTAAGGCTTCTAGTCATTTTTCCAGGACAGTAATGATTTGTATATAAGCTAGCATTAATTCCTTTCCCCTATATTTCCTAATTTGTAAATGTTCAAATTGATTTTTTTTTTTACACTGTGGAACTCTGGGCTTTTGCATCAGAGAATGTCTTGTTCATTAAATTCAAATAAGCACATTAGCATTGCCTATATCCATGTGTTCCCAATATGTTAC... | AGAGAGAACATTCAAATCAAAGTAAATAAATCATGTCTTCCAAGATCATTTACATCCTATAAATGTCCACAAACAGAGGTTTACTTTCTCTAGGTAGATATGAGAGTTAAGGCTTCTAGTCATTTTTCCAGGACAGTAATGATTTGTATATAAGCTAGCATTAATTCCTTTCCCCTATATTTCCTAATTTGTAAATGTTCAAATTGATTTTTTTTTTTACACTGTGGAACTCTGGGCTTTTGCATCAGAGAATGTCTTGTTCATTAAATTCAAATAAGCACATTAGCATTGCCTATATCCATGTGTTCCCAATATGTTAC... | pathogenic | 163,151 |
Regarding the variant at chromosome 10 and position 75030464, affecting gene KAT6B (lysine acetyltransferase 6B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type', 'KAT6B-related_disorder'] | TGAATTCAAGTTGCCCATGGTTATGCTTTCTAAGACTGTTTTTTTTCCTTCCCGTTTTTGTCTCTTCACTAAGACAATATGAATGATGATTCAAGTAACTTGAAAGAAGGCAGTAAAGACAATCCCGAACCTCTAAAGTGCAAACAAGTGTGGCCAAAAGGAACAAAGCGCGGTCTATCTAAGTGGAGGCAAAACAAAGAGAGGAAGACCGGATTTAAACTGAATTTGTACACCCCGCCAGAAACACCCATGGAGCCTGACGAGCAGGTAACAGTGGAAGAACAGAAGGAGACTTCAGAAGGAAAAACCAGCCCCAGTCC... | TGAATTCAAGTTGCCCATGGTTATGCTTTCTAAGACTGTTTTTTTTCCTTCCCGTTTTTGTCTCTTCACTAAGACAATATGAATGATGATTCAAGTAACTTGAAAGAAGGCAGTAAAGACAATCCCGAACCTCTAAAGTGCAAACAAGTGTGGCCAAAAGGAACAAAGCGCGGTCTATCTAAGTGGAGGCAAAACAAAGAGAGGAAGACCGGATTTAAACTGAATTTGTACACCCCGCCAGAAACACCCATGGAGCCTGACGAGCAGGTAACAGTGGAAGAACAGAAGGAGACTTCAGAAGGAAAAACCAGCCCCAGTCC... | pathogenic | 163,161 |
Does the variant impacting KAT6B (lysine acetyltransferase 6B) on chromosome 10, position 75031177, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTCTGCCGAAGTGGAGAAGGAAGAGCTGCCCAGAGAAAGCTTCAAAGAAGTACTGGAAAACCAGGAGACTTTTTTAGACCTTAATGTGCAGCCTGGTCACTCGAACCCAGAGGTCTTAATGGACTGTGGCGTCGACCTGACAGCTTCTTGTAACAGTGAGCCCAAGGAGCTTGCTGGGGACCCTGAAGCTGTACCCGAATCTGACGAGGAGCCACCCCCAGGAGAACAGGCACAGAAGCAGGACCAAAAGAACAGCAAGGAAGTCGATACAGAGTTCAAAGAGGGAAACCCAGCAACCATGGAAATCGACTCTGAGACTG... | GTCTGCCGAAGTGGAGAAGGAAGAGCTGCCCAGAGAAAGCTTCAAAGAAGTACTGGAAAACCAGGAGACTTTTTTAGACCTTAATGTGCAGCCTGGTCACTCGAACCCAGAGGTCTTAATGGACTGTGGCGTCGACCTGACAGCTTCTTGTAACAGTGAGCCCAAGGAGCTTGCTGGGGACCCTGAAGCTGTACCCGAATCTGACGAGGAGCCACCCCCAGGAGAACAGGCACAGAAGCAGGACCAAAAGAACAGCAAGGAAGTCGATACAGAGTTCAAAGAGGGAAACCCAGCAACCATGGAAATCGACTCTGAGACTG... | benign | 163,172 |
Determine whether the variant at chromosome 10, position 76036025, in gene LRMDA is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['LRMDA-related_disorder', 'Oculocutaneous_albinism_type_7'] | GGAAAAGAAAAAAAAAACAGCGTATGCTAGTAACCAGTTAGCCGTCCTTCACTTATTCTCGACAAGATCCTATGAGCTGGAAGGAACACAGAACAGGAGAGTTCAGATGGGCTATTGACAGGCCCAAATTCACACAACAGGAAATAGAGGAGCGGAGGCAAAGTCCCAAACCTTCCTGCCTAGATGTGCGTACATTGTGGGTTTTTAAATTTTTTTTTTGTTTGTATTTTTTGTGGGTACATAAGAGGTGTAGATATTTATGGGTCACATGACATATTTTGATACAGGCAGGCAATGTGTAATCATCACATCAGGATAAA... | GGAAAAGAAAAAAAAAACAGCGTATGCTAGTAACCAGTTAGCCGTCCTTCACTTATTCTCGACAAGATCCTATGAGCTGGAAGGAACACAGAACAGGAGAGTTCAGATGGGCTATTGACAGGCCCAAATTCACACAACAGGAAATAGAGGAGCGGAGGCAAAGTCCCAAACCTTCCTGCCTAGATGTGCGTACATTGTGGGTTTTTAAATTTTTTTTTTGTTTGTATTTTTTGTGGGTACATAAGAGGTGTAGATATTTATGGGTCACATGACATATTTTGATACAGGCAGGCAATGTGTAATCATCACATCAGGATAAA... | pathogenic | 163,174 |
The mutation in gene KCNMA1 at chromosome 10, position 76944983—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGGGCACATTTGAGTTGCCTGGGGATCTTGTTGGAATGCAGATTCTGACCCAGCAGGTCTGGGATGGCCCATGAGGTTCTGTAACTCTAACAGCCTCCCCCAACAGACACCCATACTGGGGCAGGGCAGAGAGGACACATATTGAAAGTCAAGGGCTTAAAGGCAGGAACCAAATGCCGGCTTGCCTCTTTCAACTCCTAGAAGGTCAGCTTACTGTCTTCTCACATCCTTTCTCGCCTGTGCTACCCGGGCAGGCCGCACAGGATGCGGGCTCTACCTCTTCAGGATGCAGCTGGGAGTAAGCTCAGAGCCTCTCCTAG... | AGGGCACATTTGAGTTGCCTGGGGATCTTGTTGGAATGCAGATTCTGACCCAGCAGGTCTGGGATGGCCCATGAGGTTCTGTAACTCTAACAGCCTCCCCCAACAGACACCCATACTGGGGCAGGGCAGAGAGGACACATATTGAAAGTCAAGGGCTTAAAGGCAGGAACCAAATGCCGGCTTGCCTCTTTCAACTCCTAGAAGGTCAGCTTACTGTCTTCTCACATCCTTTCTCGCCTGTGCTACCCGGGCAGGCCGCACAGGATGCGGGCTCTACCTCTTCAGGATGCAGCTGGGAGTAAGCTCAGAGCCTCTCCTAG... | benign | 163,211 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 77637478, gene KCNMA1 (potassium calcium-activated channel subfamily M alpha 1): what disease(s) if pathogenic? | benign | CTATCTAGGGAACATTTCAGAGGCACACAACTATGAGCTATCTTTCCCCTAAAGACAGTCGCTGAATCTCAGTAAACCGGGGAACAAAATTCCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGC... | CTATCTAGGGAACATTTCAGAGGCACACAACTATGAGCTATCTTTCCCCTAAAGACAGTCGCTGAATCTCAGTAAACCGGGGAACAAAATTCCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGC... | benign | 163,282 |
Benign or pathogenic: chromosome 10, position 77637496, gene KCNMA1 (potassium calcium-activated channel subfamily M alpha 1) variant? Disease(s) if pathogenic? | benign | AGAGGCACACAACTATGAGCTATCTTTCCCCTAAAGACAGTCGCTGAATCTCAGTAAACCGGGGAACAAAATTCCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAG... | AGAGGCACACAACTATGAGCTATCTTTCCCCTAAAGACAGTCGCTGAATCTCAGTAAACCGGGGAACAAAATTCCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAG... | benign | 163,283 |
Located at chromosome 10 position 77637505, the variant affecting gene KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CAACTATGAGCTATCTTTCCCCTAAAGACAGTCGCTGAATCTCAGTAAACCGGGGAACAAAATTCCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAGAAGCCAGAG... | CAACTATGAGCTATCTTTCCCCTAAAGACAGTCGCTGAATCTCAGTAAACCGGGGAACAAAATTCCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAGAAGCCAGAG... | benign | 163,285 |
The mutation in gene KCNMA1 (potassium calcium-activated channel subfamily M alpha 1) at chromosome 10, position 77637505—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CAACTATGAGCTATCTTTCCCCTAAAGACAGTCGCTGAATCTCAGTAAACCGGGGAACAAAATTCCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAGAAGCCAGAG... | CAACTATGAGCTATCTTTCCCCTAAAGACAGTCGCTGAATCTCAGTAAACCGGGGAACAAAATTCCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAGAAGCCAGAG... | benign | 163,286 |
Is the variant located on chromosome 10 at position 77637569, gene KCNMA1 (potassium calcium-activated channel subfamily M alpha 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Generalized_epilepsy-paroxysmal_dyskinesia_syndrome'] | CCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAGAAGCCAGAGAATGACGAAGAGAATGATGGTTTTCATATTTCTCCCTTTGTTCCAATACACCAGTATTTTCCAA... | CCCGAGACTGTTGGGGGAGGTGGAGGAGAAGGATGGAGAGAGGGAATGTGGGAATTTGAAGGCTCCAGGAATAAGCTGTTCTCAGCAGGAAGGCTAGTCAGGGATCTGGTGTATAGGGCTTTGCTTAACCTGAGGGCTTCTCTGGAAGGTGGGAGGTTTGCCTCCTTAACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAGAAGCCAGAGAATGACGAAGAGAATGATGGTTTTCATATTTCTCCCTTTGTTCCAATACACCAGTATTTTCCAA... | pathogenic | 163,288 |
The chromosome 10, position 77637737 genetic variant in gene KCNMA1 (potassium calcium-activated channel subfamily M alpha 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAGAAGCCAGAGAATGACGAAGAGAATGATGGTTTTCATATTTCTCCCTTTGTTCCAATACACCAGTATTTTCCAAAACACAAATGTGCTGCCACAAAACACAGCTGAGCTCCAGCACCCAACAGGATGTATAATTAATGATCAGGAGAGACAGGCTCCTTCCCCCCTGGTGTTTTCATAGCCAGCCTTCACCCATAGCCCCAGGCTTCCCTACTTCTCTCAGCCGCCAAGGAGGCTGCTACAA... | ACAAATAAGAAGAAACCTCTACGGCTGAGAAGGTAATTCCAAAGAAAACTCTCCGACCAGCACCTGCAGGCCTCCGGAGAAGCCAGAGAATGACGAAGAGAATGATGGTTTTCATATTTCTCCCTTTGTTCCAATACACCAGTATTTTCCAAAACACAAATGTGCTGCCACAAAACACAGCTGAGCTCCAGCACCCAACAGGATGTATAATTAATGATCAGGAGAGACAGGCTCCTTCCCCCCTGGTGTTTTCATAGCCAGCCTTCACCCATAGCCCCAGGCTTCCCTACTTCTCTCAGCCGCCAAGGAGGCTGCTACAA... | benign | 163,291 |
Considering the genetic mutation at chromosome 10, position 77980219, impacting POLR3A (RNA polymerase III subunit A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leukodystrophy', 'Leukoencephalopathy,_ataxia,_hypodontia,_hypomyelination_syndrome'] | CCCAGAAGGCAGGGCACCTATAGAGTTACAGGATCAAGGGGGTGGTGCAGATTCTTTCTCCAAGCCCCATGTCAACCTGGCATAAGGCTTGAGTCTACGATGAGCAAGCAAATGGCTACTGTGTTGTAGACTTTGTGCTACCAAGGAACCGGAGAGGCAAACAACTAAATTAAAGACCAACATGCAATGAGGGCGAACACTGGGTTACAATGTGCTGAAGGACCAGGAGGAGGGGAAAACTTCAAATTGGGGGTGGGGTGGCAGTGCCAGGCAGTCAAGGAGACTGGTGGTGGAGAAAGGTGCTGGTGTATGGGGCCGCA... | CCCAGAAGGCAGGGCACCTATAGAGTTACAGGATCAAGGGGGTGGTGCAGATTCTTTCTCCAAGCCCCATGTCAACCTGGCATAAGGCTTGAGTCTACGATGAGCAAGCAAATGGCTACTGTGTTGTAGACTTTGTGCTACCAAGGAACCGGAGAGGCAAACAACTAAATTAAAGACCAACATGCAATGAGGGCGAACACTGGGTTACAATGTGCTGAAGGACCAGGAGGAGGGGAAAACTTCAAATTGGGGGTGGGGTGGCAGTGCCAGGCAGTCAAGGAGACTGGTGGTGGAGAAAGGTGCTGGTGTATGGGGCCGCA... | pathogenic | 163,321 |
Benign or pathogenic: chromosome 10, position 77981479, gene POLR3A (RNA polymerase III subunit A) variant? Disease(s) if pathogenic? | pathogenic; ['Neonatal_pseudo-hydrocephalic_progeroid_syndrome'] | AGGCTCGAGCAAAGCTCAGCAGTCAGTGCTGGTCTCACGGAAGAGGCAGGGAAGCCAGACACTGGGGAGAGTTCCCCTCGTGCTCCCTCTCCCCCAGGCCAGCACAGCCCCATAAAGCCATGTTTTGTCGAGTGGCGGGGATGAGGCATGGTGCAGAGCAAGGCTCTGCTGGTGGACTCGACAGCAAGCGAGGTCACCTTGGTCTTCTGACTTGTCAAAGGGCTTAATATCCACACCCCACGGGTGGGTAGAGATACTTGACACATATGATGCCTGGCACAGGGGCTCAGCAGGCATTGATGGCCACCTCCCAAGGACAG... | AGGCTCGAGCAAAGCTCAGCAGTCAGTGCTGGTCTCACGGAAGAGGCAGGGAAGCCAGACACTGGGGAGAGTTCCCCTCGTGCTCCCTCTCCCCCAGGCCAGCACAGCCCCATAAAGCCATGTTTTGTCGAGTGGCGGGGATGAGGCATGGTGCAGAGCAAGGCTCTGCTGGTGGACTCGACAGCAAGCGAGGTCACCTTGGTCTTCTGACTTGTCAAAGGGCTTAATATCCACACCCCACGGGTGGGTAGAGATACTTGACACATATGATGCCTGGCACAGGGGCTCAGCAGGCATTGATGGCCACCTCCCAAGGACAG... | pathogenic | 163,326 |
Gene POLR3A (RNA polymerase III subunit A) variant at chromosome 10, position 77982221—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Leukodystrophy'] | GCGTCAAAGAGATGGTCAGCCGTCTTCTCAAAGGAGGCCAGCATCAGCACACTCTCCTTCATCTTGGCCAGGCCAAACCTAGTGATGCCCAGGACTTCACCCTGCGTCAAGGGAGAAAGAGTCACGGTGGTACTCACACCAATGGCAAAAGCTCGAAACCAAAGCACGGTGCACCTTCAATACAATCAACAAAAATCCTCCAAGACCCAACGTCAGGTGTGAAAGGCCCTGAGGAGCTATGGGTCCGCCCTCTGTGTCCCATTGAGGTGGTCAATCGTCGGCAACATGAAACTTCACACTCGCATCCAGACGCCATCAGA... | GCGTCAAAGAGATGGTCAGCCGTCTTCTCAAAGGAGGCCAGCATCAGCACACTCTCCTTCATCTTGGCCAGGCCAAACCTAGTGATGCCCAGGACTTCACCCTGCGTCAAGGGAGAAAGAGTCACGGTGGTACTCACACCAATGGCAAAAGCTCGAAACCAAAGCACGGTGCACCTTCAATACAATCAACAAAAATCCTCCAAGACCCAACGTCAGGTGTGAAAGGCCCTGAGGAGCTATGGGTCCGCCCTCTGTGTCCCATTGAGGTGGTCAATCGTCGGCAACATGAAACTTCACACTCGCATCCAGACGCCATCAGA... | pathogenic | 163,331 |
Considering the genetic mutation at chromosome 10, position 77982663, impacting POLR3A (RNA polymerase III subunit A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leukoencephalopathy,_ataxia,_hypodontia,_hypomyelination_syndrome', 'POLR3A-related_disorder'] | AGAATTAATTAAATTTAGGTAATTCTACTCAAAGGAATATTGTGCCATAATTTAAAAAGTATATTTATTAAAACCATGAAACAAGATGGAAAACATTTGTGATGTTAAACAAAAAGTCACAACAAAAACTGCATGCACACAGTTTCCTGCGACTAAAGCAAAAGATGCATAAAGAATAGGACTTCACAGAAGACATCGAACCGACAGCCTCAGGGTGGTAGGAAATGGGCCATTTCCCTCACCTGGTTTCTAAATAGTCTGTAATACTCTATCGACTTGTTTGGGGAAGCCTTATGAAAACCTGCTGCCCTAAGGCACAG... | AGAATTAATTAAATTTAGGTAATTCTACTCAAAGGAATATTGTGCCATAATTTAAAAAGTATATTTATTAAAACCATGAAACAAGATGGAAAACATTTGTGATGTTAAACAAAAAGTCACAACAAAAACTGCATGCACACAGTTTCCTGCGACTAAAGCAAAAGATGCATAAAGAATAGGACTTCACAGAAGACATCGAACCGACAGCCTCAGGGTGGTAGGAAATGGGCCATTTCCCTCACCTGGTTTCTAAATAGTCTGTAATACTCTATCGACTTGTTTGGGGAAGCCTTATGAAAACCTGCTGCCCTAAGGCACAG... | pathogenic | 163,339 |
Evaluate if the mutation on chromosome 10 at position 78002226 in POLR3A (RNA polymerase III subunit A) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Leukoencephalopathy,_ataxia,_hypodontia,_hypomyelination_syndrome'] | AAATCCACTCAAATCAGAAAATGCCCCACCTTGAGACTATAAATACCTGGCCAGTATATTCTCACTAAATGGCAGGCTTTCTTTGCCCTTTCCTTATGGAGAAATACTTTATACCAGGGACAAGGAGAATGAGGGCCCAGCCAGGGCTGGTGCTGGTGCCAGTGGCAGGCAAGTGGCCCAAGAGAGGGAAACCTAAGATCTGGATGCTCTCCTTAAAATAGGCAAGCAGTCAAGGACCTCAGAGGACACCCTGTGGATGGAGGCTGCCTGCCCATTCCCTGGGAAATGACACCTTCAAGATATCCTTCCTGTGGGCCAGA... | AAATCCACTCAAATCAGAAAATGCCCCACCTTGAGACTATAAATACCTGGCCAGTATATTCTCACTAAATGGCAGGCTTTCTTTGCCCTTTCCTTATGGAGAAATACTTTATACCAGGGACAAGGAGAATGAGGGCCCAGCCAGGGCTGGTGCTGGTGCCAGTGGCAGGCAAGTGGCCCAAGAGAGGGAAACCTAAGATCTGGATGCTCTCCTTAAAATAGGCAAGCAGTCAAGGACCTCAGAGGACACCCTGTGGATGGAGGCTGCCTGCCCATTCCCTGGGAAATGACACCTTCAAGATATCCTTCCTGTGGGCCAGA... | pathogenic | 163,378 |
Considering the variant on chromosome 10, location 78009548, involving gene POLR3A (RNA polymerase III subunit A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | AATTCAAATCTGTTGTGAAACTATTCAGTACTGAGTTAATTTAATTAATAACAGCACACATGATTTAGCCTGGAATGAGTATCTTTTTCTGTATGTATATGTGTGGTGGGGATGAAATGGCAGTAAAAGAACAAAATAACGTAAACCCTTAAGACTCTAACAATTGCAGCTTTAACTAAAAGAAGGATGCTGAGATACTTACACAGGTAGACAGGAGCCAGCCTGGCGAGCCGTGACATGGCATCTGCAGCTTCATTCTGTCCCCAGTCTCGCAGCAAAATGTAAAAAATATTGTTCTTGGATCCTGACCCTAGGGTTCC... | AATTCAAATCTGTTGTGAAACTATTCAGTACTGAGTTAATTTAATTAATAACAGCACACATGATTTAGCCTGGAATGAGTATCTTTTTCTGTATGTATATGTGTGGTGGGGATGAAATGGCAGTAAAAGAACAAAATAACGTAAACCCTTAAGACTCTAACAATTGCAGCTTTAACTAAAAGAAGGATGCTGAGATACTTACACAGGTAGACAGGAGCCAGCCTGGCGAGCCGTGACATGGCATCTGCAGCTTCATTCTGTCCCCAGTCTCGCAGCAAAATGTAAAAAATATTGTTCTTGGATCCTGACCCTAGGGTTCC... | pathogenic | 163,393 |
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