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 |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 1 at position 152304831 in gene FLG: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ichthyosis_vulgaris'] | CCTTATTAATATACGTTGCATAATACCTTGGATGATCTTTACCAAACGCACTTGCTTTACAGATATCAGATCTTTCCTTGAAAACAACAGGATTGGAATTGTAACTAACACTTCCGTGCTGAGAGTGTCTAAACCCGGATTCACCATAATCATAATCTGCACTACCATAGCTGCCATGTCTCCAAACTAAACCTGATTGACCTTTTTGCCTTTCAGTGCCCTCAGATTGATAATGATAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCA... | CCTTATTAATATACGTTGCATAATACCTTGGATGATCTTTACCAAACGCACTTGCTTTACAGATATCAGATCTTTCCTTGAAAACAACAGGATTGGAATTGTAACTAACACTTCCGTGCTGAGAGTGTCTAAACCCGGATTCACCATAATCATAATCTGCACTACCATAGCTGCCATGTCTCCAAACTAAACCTGATTGACCTTTTTGCCTTTCAGTGCCCTCAGATTGATAATGATAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCA... | pathogenic | 14,747 |
Variant at chromosome position 152305067, chromosome 1, gene FLG: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ichthyosis_vulgaris'] | TAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGA... | TAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGA... | pathogenic | 14,752 |
Variant in gene FLG, located at chromosome 1 position 152306940: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris'] | GTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCT... | GTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCT... | pathogenic | 14,787 |
Is chromosome 1, position 152307398, gene FLG variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ichthyosis_vulgaris'] | ACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTC... | ACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTC... | pathogenic | 14,798 |
Is the variant located on chromosome 1 at position 152307617, gene FLG, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ichthyosis_vulgaris'] | CCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGA... | CCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGA... | pathogenic | 14,804 |
Evaluate this variant at chromosome 1, position 152307928, gene FLG: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris'] | TGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGT... | TGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGT... | pathogenic | 14,813 |
The chromosome 1, position 152308017 genetic variant in gene FLG: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ichthyosis_vulgaris'] | TTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATG... | TTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATG... | pathogenic | 14,815 |
The mutation impacting FLG on chromosome 1 at position 152308047: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris'] | CCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGC... | CCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGC... | pathogenic | 14,816 |
Gene FLG variant at chromosome 1, position 152308939—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | GGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTG... | GGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTG... | pathogenic | 14,848 |
Regarding the variant at chromosome 1 and position 152309086, affecting gene FLG: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ichthyosis_vulgaris'] | ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGG... | ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGG... | pathogenic | 14,854 |
Considering the genetic mutation at chromosome 1, position 152310073, impacting FLG: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ichthyosis_vulgaris'] | TTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCAC... | TTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCAC... | pathogenic | 14,871 |
Gene FLG variant at chromosome position 152310097 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ichthyosis_vulgaris'] | GGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGG... | GGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGG... | pathogenic | 14,872 |
A mutation at chromosome position 152310613 on chromosome 1 in gene FLG: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ichthyosis_vulgaris'] | AGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTG... | AGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTG... | pathogenic | 14,883 |
Benign or pathogenic: chromosome 1, position 152311183, gene FLG variant? Disease(s) if pathogenic? | pathogenic; ['Ichthyosis_vulgaris'] | ACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGT... | ACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGT... | pathogenic | 14,891 |
Evaluate this variant at chromosome 1, position 152311461, gene FLG: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ichthyosis_vulgaris'] | GCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCC... | GCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCC... | pathogenic | 14,897 |
Does the variant impacting FLG on chromosome 1, position 152311564, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Dermatitis,_atopic,_2', 'Dermatitis,_atopic,_2,_susceptibility_to', 'Ichthyosis_vulgaris'] | TTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGC... | TTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGC... | pathogenic | 14,900 |
Mutation at chromosome 1, position 152311660, within FLG: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris'] | CCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATT... | CCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATT... | pathogenic | 14,901 |
A genetic variant at chromosome 1, position 152311908, affecting gene FLG—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Ichthyosis_vulgaris'] | TTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTG... | TTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTG... | pathogenic | 14,904 |
Classify the chromosome 1 variant at position 152313055 affecting gene FLG as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ichthyosis_vulgaris', 'Inborn_genetic_diseases'] | GTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATC... | GTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATC... | pathogenic | 14,925 |
Clinical classification of chromosome 1, position 152313587, gene FLG: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['FLG-related_disorder'] | GACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGC... | GACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGC... | pathogenic | 14,940 |
The mutation in gene FLG at chromosome 1, position 152313637—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris'] | GTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGG... | GTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGG... | pathogenic | 14,942 |
Benign or pathogenic: chromosome 1, position 152314328, gene FLG variant? Disease(s) if pathogenic? | pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris'] | GACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGA... | GACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGA... | pathogenic | 14,947 |
Does the variant impacting FLG on chromosome 1, position 152314408, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris'] | ACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGT... | ACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGT... | pathogenic | 14,949 |
Is the genetic variant on chromosome 1, position 153261515, gene LORICRIN (loricrin cornified envelope precursor protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCTGCCACACTGTTGCATCAGAGAAGGGGCCAGTCACACACCAGGCTGCCCATCTCAAGAATGCCAAAACCTTCATGAATGGGCCATCCTGTGCCTGCAATCACAGGGAGGTGGGGCCGACAGCCACGGGTCACGTAACTGAGGCCAAACACAAGAAGCTGGCCTGGATCAATGAGTCAGGGAGAGCTCTATATATAACCTCAGGAGATCAGTGCTCCTCACATTGCCAGCATCTTCTCTCCTCACTCACCCTTCCTGGTGCTTTGGGTAAGTGTGGTTCTACTGACTCTCTCATTTTCCCAGCTGGTCTTGCCCAGGCC... | CCTGCCACACTGTTGCATCAGAGAAGGGGCCAGTCACACACCAGGCTGCCCATCTCAAGAATGCCAAAACCTTCATGAATGGGCCATCCTGTGCCTGCAATCACAGGGAGGTGGGGCCGACAGCCACGGGTCACGTAACTGAGGCCAAACACAAGAAGCTGGCCTGGATCAATGAGTCAGGGAGAGCTCTATATATAACCTCAGGAGATCAGTGCTCCTCACATTGCCAGCATCTTCTCTCCTCACTCACCCTTCCTGGTGCTTTGGGTAAGTGTGGTTCTACTGACTCTCTCATTTTCCCAGCTGGTCTTGCCCAGGCC... | benign | 14,996 |
Does the genetic variant at chromosome 1, position 153816289, impacting gene GATAD2B (GATA zinc finger domain containing 2B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; [, 'Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome'] | GCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGG... | GCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGG... | pathogenic | 15,028 |
Variant at chromosome position 153816570, chromosome 1, gene GATAD2B (GATA zinc finger domain containing 2B): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome'] | CAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGT... | CAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGT... | pathogenic | 15,033 |
Is chromosome 1, position 153817453, gene GATAD2B (GATA zinc finger domain containing 2B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome'] | AGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAG... | AGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAG... | pathogenic | 15,036 |
Variant in GATAD2B (GATA zinc finger domain containing 2B), chromosome 1, position 153818122—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome'] | ACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTC... | ACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTC... | pathogenic | 15,043 |
Gene GATAD2B (GATA zinc finger domain containing 2B) variant at chromosome 1, position 153818821—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome'] | TGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCA... | TGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCA... | pathogenic | 15,046 |
For chromosome 1, position 153819635, gene GATAD2B (GATA zinc finger domain containing 2B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome'] | TGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGG... | TGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGG... | pathogenic | 15,050 |
Evaluate this variant at chromosome 1, position 154273372, gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Kostmann_syndrome', 'Severe_congenital_neutropenia'] | TTGGAGTGGGGTGAGGGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTT... | TTGGAGTGGGGTGAGGGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTT... | pathogenic | 15,096 |
Chromosome 1, position 154273387, gene HAX1 (HCLS1 associated protein X-1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAG... | GGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAG... | benign | 15,097 |
Benign or pathogenic: chromosome 1, position 154273402, gene HAX1 (HCLS1 associated protein X-1) variant? Disease(s) if pathogenic? | pathogenic; ['Kostmann_syndrome'] | TATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGG... | TATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGG... | pathogenic | 15,099 |
Evaluate if the mutation on chromosome 1 at position 154273412 in HAX1 (HCLS1 associated protein X-1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Kostmann_syndrome'] | AGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTT... | AGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTT... | pathogenic | 15,102 |
A mutation at chromosome position 154273863 on chromosome 1 in gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Kostmann_syndrome'] | GACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGT... | GACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGT... | pathogenic | 15,114 |
Evaluate the clinical significance of the mutation at chromosome 1, position 154273880 in gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Inborn_genetic_diseases', 'Kostmann_syndrome'] | GAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGG... | GAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGG... | pathogenic | 15,117 |
Variant at chromosome 1, position 154273914, gene HAX1 (HCLS1 associated protein X-1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Kostmann_syndrome'] | CTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCAT... | CTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCAT... | pathogenic | 15,121 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154585296, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic? | pathogenic; ['Aicardi-Goutieres_syndrome_6', 'Symmetrical_dyschromatosis_of_extremities'] | ACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAA... | ACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAA... | pathogenic | 15,246 |
Gene mutation in ADAR (adenosine deaminase RNA specific) at chromosome 1, position 154588267—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGC... | TGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGC... | benign | 15,254 |
Mutation found at chromosome 1 position 154589856, gene ADAR: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Aicardi-Goutieres_syndrome_6'] | TCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGT... | TCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGT... | pathogenic | 15,262 |
Variant at chromosome 1, position 154589860, gene ADAR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Aicardi-Goutieres_syndrome_6', 'Symmetrical_dyschromatosis_of_extremities'] | ATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTC... | ATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTC... | pathogenic | 15,263 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154590245, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic? | pathogenic; ['ADAR-related_type_1_interferonopathy', 'Aicardi-Goutieres_syndrome_6', 'Inborn_genetic_diseases', 'Symmetrical_dyschromatosis_of_extremities'] | TTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAG... | TTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAG... | pathogenic | 15,271 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154598698, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic? | benign | TATTGTCTTCTAAGAGGCCGTGGAGACAGGGCTGGACTTGTTTCCCTCAACTCGCCCCTTCTGTCCTACACAGCTAAAGCACACCCTTGTTTTCCCTGGGTTACAGACCATCCCCAACTGGTGACACATGCATTAGCCAGGACTAGGACACTCACTTGGGCTCGTGAGGAGGTCCGGACTGGTCGACCAACTTGAATTCAGCAGCAAAGCCATGGGAGCGGGCGTACTCCAAAAGGCCACCCACAGGGTTGGTGTTCAGGTATCTCACGAGCTCGCCAATCTTCCTGACCTTGTTGGGCATCATGGATTCCAAGTTATCA... | TATTGTCTTCTAAGAGGCCGTGGAGACAGGGCTGGACTTGTTTCCCTCAACTCGCCCCTTCTGTCCTACACAGCTAAAGCACACCCTTGTTTTCCCTGGGTTACAGACCATCCCCAACTGGTGACACATGCATTAGCCAGGACTAGGACACTCACTTGGGCTCGTGAGGAGGTCCGGACTGGTCGACCAACTTGAATTCAGCAGCAAAGCCATGGGAGCGGGCGTACTCCAAAAGGCCACCCACAGGGTTGGTGTTCAGGTATCTCACGAGCTCGCCAATCTTCCTGACCTTGTTGGGCATCATGGATTCCAAGTTATCA... | benign | 15,287 |
A mutation at chromosome position 154607872 on chromosome 1 in gene ADAR (adenosine deaminase RNA specific): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTCCTATTAGCTCTTTGAGTGACCTTGGGAAAAAAAAATTGTGTTTCAAAGTGGCTAGAGTCAGTTAAAAGCTAAATGTTTTTTAAACTGCTACTCTTGGCCCAAATCTGGAAAATATTTTAATGTCTGTCTATAGAAGAATTAAATTATGAAACATTCATTCTATGGAATAGTACTCACACGGTTATTTTTTTTCTTGTGAGACGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCAGGCTGGAGTGCAGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCGGGTTCAAG... | CTCCTATTAGCTCTTTGAGTGACCTTGGGAAAAAAAAATTGTGTTTCAAAGTGGCTAGAGTCAGTTAAAAGCTAAATGTTTTTTAAACTGCTACTCTTGGCCCAAATCTGGAAAATATTTTAATGTCTGTCTATAGAAGAATTAAATTATGAAACATTCATTCTATGGAATAGTACTCACACGGTTATTTTTTTTCTTGTGAGACGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCAGGCTGGAGTGCAGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCGGGTTCAAG... | benign | 15,303 |
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | benign | 15,311 |
Regarding the variant found on chromosome 1 at position 154869723 in gene KCNN3 (potassium calcium-activated channel subfamily N member 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | benign | 15,314 |
Evaluate if the mutation on chromosome 1 at position 154869723 in KCNN3 (potassium calcium-activated channel subfamily N member 3) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | benign | 15,315 |
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | benign | 15,316 |
Is the genetic mutation found on chromosome 1 at position 154869723, within the gene KCNN3 (potassium calcium-activated channel subfamily N member 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | benign | 15,317 |
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGT... | benign | 15,318 |
A genetic variant on chromosome 1, position 154984085, affects the gene FLAD1 (flavin adenine dinucleotide synthetase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGAGTAAAATTTGGCAAGGTGTGGTTTACCAGTCCTACAAAGAATGAATTCGGCCCGGCGCGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAAAAATGAAAATAAAAAAATTTTTAAAAAAAAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT... | AGAGTAAAATTTGGCAAGGTGTGGTTTACCAGTCCTACAAAGAATGAATTCGGCCCGGCGCGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAAAAATGAAAATAAAAAAATTTTTAAAAAAAAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT... | benign | 15,327 |
A mutation at chromosome position 154988128 on chromosome 1 in gene FLAD1 (flavin adenine dinucleotide synthetase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency', 'Myopathy_with_abnormal_lipid_metabolism'] | CACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAGGCAATTATCTCACCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACCCGCCACCACGCCTGGCTAATTTTTGTGGGGTTTTTGTTTGTTTGTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGACTGGCTAATTTTTTGTATTTTTAG... | CACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAGGCAATTATCTCACCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACCCGCCACCACGCCTGGCTAATTTTTGTGGGGTTTTTGTTTGTTTGTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGACTGGCTAATTTTTTGTATTTTTAG... | pathogenic | 15,331 |
Gene GBA1 variant at chromosome position 155235749 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset'] | GATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGT... | GATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGT... | pathogenic | 15,378 |
Is the genetic mutation found on chromosome 1 at position 155237425, within the gene GBA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset'] | TCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGT... | TCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGT... | pathogenic | 15,400 |
Gene mutation in GBA1 at chromosome 1, position 155238298—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset', 'likely other unspecified diseases'] | TGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGC... | TGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGC... | pathogenic | 15,420 |
Is the genetic change at chromosome 1, position 155239657, within gene GBA1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | CCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATA... | CCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATA... | pathogenic | 15,427 |
Clinical classification of chromosome 1, position 155239968, gene GBA1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['GBA1-related_disorder', 'Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset'] | AGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATG... | AGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATG... | pathogenic | 15,432 |
Is the genetic variant on chromosome 1, position 155239989, gene GBA1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset', 'likely other unspecified diseases'] | GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTG... | GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTG... | pathogenic | 15,433 |
Is the genetic variant on chromosome 1, position 155239989, gene GBA1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Gaucher_disease'] | GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTG... | GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTG... | pathogenic | 15,434 |
Evaluate the clinical significance of the mutation at chromosome 1, position 155240660 in gene GBA1 (glucosylceramidase beta 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['GBA1-related_disorder', 'Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset'] | AGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGG... | AGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGG... | pathogenic | 15,436 |
The genetic variant at chromosome 1, position 155291831, affecting gene PKLR (pyruvate kinase L/R): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | GTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCA... | GTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCA... | pathogenic | 15,447 |
Is the variant located on chromosome 1 at position 155294259, gene PKLR (pyruvate kinase L/R), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | CAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCG... | CAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCG... | pathogenic | 15,461 |
Does the genetic variant at chromosome 1, position 155295172, impacting gene PKLR (pyruvate kinase L/R), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | CAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATG... | CAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATG... | pathogenic | 15,471 |
Considering the variant on chromosome 1, location 155477966, involving gene ASH1L (ASH1 like histone lysine methyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['ASH1L-related_disorder', 'Intellectual_disability,_autosomal_dominant_52'] | ACCTCCTCTACTATAATCTCCATGACTCAATGAACCTGTGTGCCTCATTCTCTATTATATAACAAGGGCCCACAAAGTAGAATGCCTGGTAAATACCTGATATTCAGTAACTATTACTGATTAAATAAACTATTTGTTGAATGGACCTAAGCATAAGACTTTTTCTCTCTTTACGTTGTTAAAAGCTGGCCGGGTGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAAC... | ACCTCCTCTACTATAATCTCCATGACTCAATGAACCTGTGTGCCTCATTCTCTATTATATAACAAGGGCCCACAAAGTAGAATGCCTGGTAAATACCTGATATTCAGTAACTATTACTGATTAAATAAACTATTTGTTGAATGGACCTAAGCATAAGACTTTTTCTCTCTTTACGTTGTTAAAAGCTGGCCGGGTGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAAC... | pathogenic | 15,494 |
Variant at chromosome 1, position 155478215, gene ASH1L (ASH1 like histone lysine methyltransferase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Intellectual_disability,_autosomal_dominant_52'] | ACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAA... | ACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAA... | pathogenic | 15,497 |
Gene ASH1L (ASH1 like histone lysine methyltransferase) variant at chromosome 1, position 155480735—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Intellectual_disability,_autosomal_dominant_52'] | GAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCA... | GAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCA... | pathogenic | 15,503 |
Does the chromosome 1 mutation at position 155612490 within gene MSTO1 (misato mitochondrial distribution and morphology regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_myopathy-cerebellar_ataxia-pigmentary_retinopathy_syndrome'] | AGCGACCGATTCCAAGGAGCCCCCGGGAGAGCTGTGCCCCGACGTCCTGTATCGTACGGGCCGGACGCTGCACGGCCAGGAGACCTACACGCCGCGACTCATCCTCATGGATCTGAAGGGTGAGGTGGTGGCAGAGTTAGCCGATGCCCCTTATTTCCCTTCCGCGTGCCTAGTCCTTGCGCTGCCGTTATCTTCAAGACCCTCCCACCTTACCGAGCTCCAGGACCGGAGATGAGGAGCTGAGCACAACATGCCAACACTCGAGGGGCCCACGACAGTTGCTCAAGAGCCATTTCGGGAATAGGCTGCTAGGCCCTGGA... | AGCGACCGATTCCAAGGAGCCCCCGGGAGAGCTGTGCCCCGACGTCCTGTATCGTACGGGCCGGACGCTGCACGGCCAGGAGACCTACACGCCGCGACTCATCCTCATGGATCTGAAGGGTGAGGTGGTGGCAGAGTTAGCCGATGCCCCTTATTTCCCTTCCGCGTGCCTAGTCCTTGCGCTGCCGTTATCTTCAAGACCCTCCCACCTTACCGAGCTCCAGGACCGGAGATGAGGAGCTGAGCACAACATGCCAACACTCGAGGGGCCCACGACAGTTGCTCAAGAGCCATTTCGGGAATAGGCTGCTAGGCCCTGGA... | pathogenic | 15,523 |
Mutation at chromosome 1, position 155613205, within MSTO1 (misato mitochondrial distribution and morphology regulator 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Mitochondrial_myopathy-cerebellar_ataxia-pigmentary_retinopathy_syndrome'] | AACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAAC... | AACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAAC... | pathogenic | 15,525 |
Regarding the variant found on chromosome 1 at position 155904718 in gene RIT1 (Ras like without CAAX 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCC... | CGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCC... | benign | 15,589 |
Does the variant on chromosome 1 at location 156114922 affecting gene LMNA (lamin A/C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Charcot-Marie-Tooth_disease_type_2B1', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation', 'Dilated_cardiomyopathy-hypergonadotropic_hypogonadism_syndrome', 'Dilated_cardiomyopathy_1A', 'Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant', 'Emery-Dreifuss_muscu... | GGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTA... | GGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTA... | pathogenic | 15,640 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156114968, gene LMNA: what disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | TCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAG... | TCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAG... | pathogenic | 15,647 |
Is the chromosome 1, position 156115009 variant in LMNA clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation'] | GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGG... | GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGG... | pathogenic | 15,656 |
The mutation impacting LMNA (lamin A/C) on chromosome 1 at position 156115079: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | ACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAG... | ACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAG... | pathogenic | 15,673 |
Variant in gene LMNA (lamin A/C), located at chromosome 1 position 156115211: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | GCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGAT... | GCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGAT... | pathogenic | 15,686 |
Clinical classification of chromosome 1, position 156115251, gene LMNA (lamin A/C): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | CTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGC... | CTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGC... | pathogenic | 15,690 |
Regarding the variant at chromosome 1 and position 156115254, affecting gene LMNA (lamin A/C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | AGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGC... | AGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGC... | pathogenic | 15,691 |
Variant on chromosome 1, at position 156115265, affecting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | TCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCT... | TCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCT... | pathogenic | 15,693 |
Variant at chromosome 1, position 156130623, gene LMNA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | CTGGCTTCTCCATTCTCTCTGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGA... | CTGGCTTCTCCATTCTCTCTGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGA... | pathogenic | 15,707 |
The mutation impacting LMNA on chromosome 1 at position 156130642: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | TGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCC... | TGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCC... | pathogenic | 15,713 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156134394, gene LMNA (lamin A/C): what disease(s) if pathogenic? | benign | TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGA... | TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGA... | benign | 15,728 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156134410, gene LMNA (lamin A/C): what disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACC... | TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACC... | pathogenic | 15,729 |
Variant on chromosome 1, at position 156134499, affecting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | CAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGA... | CAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGA... | pathogenic | 15,743 |
Assess the variant on chromosome 1, position 156134523, impacting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | AACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGT... | AACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGT... | pathogenic | 15,749 |
A genetic alteration at chromosome 1, position 156134876, in gene LMNA (lamin A/C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | TCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGT... | TCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGT... | pathogenic | 15,767 |
Determine whether the variant at chromosome 1, position 156134926, in gene LMNA (lamin A/C) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | CACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCT... | CACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCT... | pathogenic | 15,774 |
Chromosome 1, position 156134942, gene LMNA (lamin A/C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | CAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCC... | CAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCC... | pathogenic | 15,780 |
The mutation impacting LMNA (lamin A/C) on chromosome 1 at position 156135196: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Charcot-Marie-Tooth_disease_type_2B1', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation', 'Dilated_cardiomyopathy-hypergonadotropic_hypogonadism_syndrome', 'Dilated_cardiomyopathy_1A', 'Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant', 'Emery-Dreifuss_muscu... | TCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGA... | TCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGA... | pathogenic | 15,793 |
Gene mutation in LMNA (lamin A/C) at chromosome 1, position 156135230—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Primary_dilated_cardiomyopathy'] | TGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGG... | TGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGG... | pathogenic | 15,800 |
Chromosome 1, position 156135262, gene LMNA (lamin A/C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | CAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACT... | CAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACT... | pathogenic | 15,806 |
Clinically, how would you classify the variant at chromosome 1, position 156135279, gene LMNA (lamin A/C): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Dilated_cardiomyopathy_1A', 'Dilated_cardiomyopathy_1S'] | AGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTG... | AGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTG... | pathogenic | 15,809 |
A genetic variant on chromosome 1, position 156135921, affects the gene LMNA (lamin A/C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | CTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTT... | CTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTT... | pathogenic | 15,828 |
Is the chromosome 1, position 156135940 variant in LMNA (lamin A/C) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | AGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTC... | AGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTC... | pathogenic | 15,831 |
Considering the genetic mutation at chromosome 1, position 156135953, impacting LMNA (lamin A/C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Charcot-Marie-Tooth_disease_type_2'] | TACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAG... | TACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAG... | pathogenic | 15,832 |
Assess the variant on chromosome 1, position 156135965, impacting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | ACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGA... | ACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGA... | pathogenic | 15,835 |
The genetic variant at chromosome 1, position 156136074, affecting gene LMNA (lamin A/C): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | TTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTC... | TTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTC... | pathogenic | 15,851 |
Does the variant impacting LMNA (lamin A/C) on chromosome 1, position 156136103, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | CACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTT... | CACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTT... | pathogenic | 15,858 |
Does the genetic variant at chromosome 1, position 156136289, impacting gene LMNA (lamin A/C), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | GTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTG... | GTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTG... | pathogenic | 15,884 |
For chromosome 1, position 156136317, gene LMNA (lamin A/C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | ATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGG... | ATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGG... | pathogenic | 15,889 |
The mutation in gene LMNA (lamin A/C) at chromosome 1, position 156136328—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | TCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGA... | TCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGA... | pathogenic | 15,891 |
Located at chromosome 1 position 156136351, the variant affecting gene LMNA (lamin A/C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiomyopathy', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | ATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCT... | ATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCT... | pathogenic | 15,893 |
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