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 |
|---|---|---|---|---|---|
Is chromosome 16, position 56865269, gene SLC12A3 (solute carrier family 12 member 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | AGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCC... | AGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCC... | pathogenic | 252,165 |
Determine if the mutation at chromosome 16, position 56865276 in gene SLC12A3 (solute carrier family 12 member 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | ATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTT... | ATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTT... | pathogenic | 252,166 |
A genetic alteration at chromosome 16, position 56865288, in gene SLC12A3 (solute carrier family 12 member 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_hypokalemia-hypomagnesemia', 'Inborn_genetic_diseases'] | GCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTG... | GCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTG... | pathogenic | 252,167 |
Evaluate this variant at chromosome 16, position 56865307, gene SLC12A3 (solute carrier family 12 member 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | GGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATT... | GGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATT... | pathogenic | 252,168 |
The mutation impacting SLC12A3 (solute carrier family 12 member 3) on chromosome 16 at position 56865391: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | TCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGA... | TCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGA... | pathogenic | 252,171 |
Variant in SLC12A3 (solute carrier family 12 member 3), chromosome 16, position 56865469—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | AGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCA... | AGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCA... | pathogenic | 252,174 |
Classify the chromosome 16 variant at position 56867069 affecting gene SLC12A3 (solute carrier family 12 member 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCT... | GGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCT... | pathogenic | 252,180 |
Evaluate this variant at chromosome 16, position 56867115, gene SLC12A3 (solute carrier family 12 member 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | CTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCT... | CTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCT... | pathogenic | 252,182 |
Does the variant on chromosome 16 at location 56867164 affecting gene SLC12A3 (solute carrier family 12 member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | TCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATA... | TCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATA... | pathogenic | 252,186 |
A mutation at chromosome position 56867210 on chromosome 16 in gene SLC12A3 (solute carrier family 12 member 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTC... | GTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTC... | pathogenic | 252,187 |
Is the genetic mutation found on chromosome 16 at position 56867212, within the gene SLC12A3 (solute carrier family 12 member 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCG... | GCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCG... | pathogenic | 252,188 |
Located at chromosome 16 position 56869768, the variant affecting gene SLC12A3 (solute carrier family 12 member 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | TTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGC... | TTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGC... | pathogenic | 252,199 |
Is chromosome 16, position 56870164, gene SLC12A3 (solute carrier family 12 member 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCC... | GGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCC... | pathogenic | 252,207 |
Variant in gene SLC12A3 (solute carrier family 12 member 3), located at chromosome 16 position 56870631: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGG... | GGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGG... | pathogenic | 252,213 |
Clinically, how would you classify the variant at chromosome 16, position 56870699, gene SLC12A3 (solute carrier family 12 member 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | CAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCAT... | CAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCAT... | pathogenic | 252,218 |
Evaluate this variant at chromosome 16, position 56870725, gene SLC12A3 (solute carrier family 12 member 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | CTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAG... | CTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAG... | pathogenic | 252,219 |
Variant at chromosome position 56872655, chromosome 16, gene SLC12A3 (solute carrier family 12 member 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCC... | GCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCC... | pathogenic | 252,229 |
Is the chromosome 16, position 56879084 variant in SLC12A3 (solute carrier family 12 member 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GAGAAAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCC... | GAGAAAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCC... | pathogenic | 252,242 |
Does the chromosome 16 mutation at position 56879146 within gene SLC12A3 (solute carrier family 12 member 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAAT... | GAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAAT... | pathogenic | 252,246 |
Assess the variant on chromosome 16, position 56879226, impacting SLC12A3 (solute carrier family 12 member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATC... | GGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATC... | pathogenic | 252,253 |
Does the chromosome 16 mutation at position 56879572 within gene SLC12A3 (solute carrier family 12 member 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | ATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGAC... | ATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGAC... | pathogenic | 252,257 |
Chromosome 16, position 56884121, gene SLC12A3 (solute carrier family 12 member 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | TTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCG... | TTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCG... | pathogenic | 252,287 |
Clinically, how would you classify the variant at chromosome 16, position 56886363, gene SLC12A3 (solute carrier family 12 member 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGG... | GGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGG... | pathogenic | 252,308 |
Variant at chromosome 16, position 56887003, gene SLC12A3 (solute carrier family 12 member 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | CAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTG... | CAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTG... | pathogenic | 252,322 |
Mutation found at chromosome 16 position 56894540, gene SLC12A3 (solute carrier family 12 member 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_hypokalemia-hypomagnesemia', 'Inborn_genetic_diseases'] | CAGGGTCACGGCATCATGGGGACCCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTG... | CAGGGTCACGGCATCATGGGGACCCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTG... | pathogenic | 252,360 |
A genetic alteration at chromosome 16, position 56899612, in gene SLC12A3 (solute carrier family 12 member 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GGAAAGTGTTGCTTGGGAAAAGCAGCATCTGCCTTCTCTGTGATCTCCAAAAAGTAAATAAGATACGAGATTGCTCTGCAGTCTCTGCTCCCTGTCCTGGCTCTGAATGGAAGCTGGGTTCAGTAGGTTTGGTATAGCTCAAGGCTATGGAAGCCTGGGCTAACAGCATGTCCTTGGTGGGAAGGTTAGGTAACCCTTCCTCTGCCTCCCTCTGTCCCTTGGTGGGCCGCATCCTCTGCTCTCTACATAATCCTGGGGCAAGTCTATGCTGCCCTTGCCTAGGCACTGCCCAGGCCTGCCAGCCTCCGCTGCTACTGCAC... | GGAAAGTGTTGCTTGGGAAAAGCAGCATCTGCCTTCTCTGTGATCTCCAAAAAGTAAATAAGATACGAGATTGCTCTGCAGTCTCTGCTCCCTGTCCTGGCTCTGAATGGAAGCTGGGTTCAGTAGGTTTGGTATAGCTCAAGGCTATGGAAGCCTGGGCTAACAGCATGTCCTTGGTGGGAAGGTTAGGTAACCCTTCCTCTGCCTCCCTCTGTCCCTTGGTGGGCCGCATCCTCTGCTCTCTACATAATCCTGGGGCAAGTCTATGCTGCCCTTGCCTAGGCACTGCCCAGGCCTGCCAGCCTCCGCTGCTACTGCAC... | pathogenic | 252,377 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 56902466, gene SLC12A3 (solute carrier family 12 member 3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | CCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGG... | CCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGG... | pathogenic | 252,384 |
Does the chromosome 16 mutation at position 56902499 within gene SLC12A3 (solute carrier family 12 member 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | AGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGA... | AGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGA... | pathogenic | 252,387 |
Located at chromosome 16 position 56913298, the variant affecting gene SLC12A3—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_hypokalemia-hypomagnesemia'] | GACTATAGCTTAATGAAATGGCCTTGGTCCAACCCACCTTCCCTAATTTTTGAGACCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGC... | GACTATAGCTTAATGAAATGGCCTTGGTCCAACCCACCTTCCCTAATTTTTGAGACCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGC... | pathogenic | 252,410 |
Variant chromosome 16, position 57639373, gene ADGRG1 (adhesion G protein-coupled receptor G1): benign or pathogenic? Disease(s)? | pathogenic; ['Polymicrogyria,_bilateral_perisylvian,_autosomal_recessive'] | AGTTATTTTTATTATTACTATGAGTGGGATGTTTAGGGACTATGGGTGGGGCTGGGGAAGCTGTGCCTCTGTTTCTCCGGGTTGCTGTTGTAAGTGAGTGCCAAGTGTATGTAAAAGGCGTGGTGTGCCTCGTCTGTACCTCCCCCCAGGTCCCCTGAACCACAGCCCCTTGCCAGCTCCCTTTAAGCACAGGATCCTTTGATGCAACAGAGGCCGCCTTCTCCGGCCAGCAAGCCTTGTGAGCCTTTCCGGGAGAAGGTTTCACCAGAGAACAGCAAGTCCTTTCTTTGCTTTCTTTTCCTCTTCCTCCGGGGGCCAAA... | AGTTATTTTTATTATTACTATGAGTGGGATGTTTAGGGACTATGGGTGGGGCTGGGGAAGCTGTGCCTCTGTTTCTCCGGGTTGCTGTTGTAAGTGAGTGCCAAGTGTATGTAAAAGGCGTGGTGTGCCTCGTCTGTACCTCCCCCCAGGTCCCCTGAACCACAGCCCCTTGCCAGCTCCCTTTAAGCACAGGATCCTTTGATGCAACAGAGGCCGCCTTCTCCGGCCAGCAAGCCTTGTGAGCCTTTCCGGGAGAAGGTTTCACCAGAGAACAGCAAGTCCTTTCTTTGCTTTCTTTTCCTCTTCCTCCGGGGGCCAAA... | pathogenic | 252,561 |
The mutation impacting ADGRG1 (adhesion G protein-coupled receptor G1) on chromosome 16 at position 57651347: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bilateral_frontoparietal_polymicrogyria', 'Polymicrogyria,_bilateral_perisylvian,_autosomal_recessive'] | TCCAGCAACCTCTGTACAGCCAGGGCCTGCCCACAGAGATGGATCAGGTGCTCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTA... | TCCAGCAACCTCTGTACAGCCAGGGCCTGCCCACAGAGATGGATCAGGTGCTCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTA... | pathogenic | 252,572 |
Is the genetic variant on chromosome 16, position 57654035, gene ADGRG1 (adhesion G protein-coupled receptor G1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bilateral_frontoparietal_polymicrogyria', 'Polymicrogyria,_bilateral_perisylvian,_autosomal_recessive'] | GGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTG... | GGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTG... | pathogenic | 252,593 |
Is the variant located on chromosome 16 at position 57654102, gene ADGRG1 (adhesion G protein-coupled receptor G1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bilateral_frontoparietal_polymicrogyria', 'Polymicrogyria,_bilateral_perisylvian,_autosomal_recessive'] | CAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGG... | CAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGG... | pathogenic | 252,596 |
For chromosome 16, position 57655918, gene ADGRG1 (adhesion G protein-coupled receptor G1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bilateral_frontoparietal_polymicrogyria'] | CCTCTGCCTCTGCCTCTTCCCTGTGTCTCTGTCTGAGTCTCTCGTCCTCCTGCCTCAGTCTCCCTGGTGGCCCGGCCCCCTCCCCACCATCACCACCGCTTTCTCCTCCCTGCCAGGCAGTTGCAGAGCCTGGAGTCGAAACTGACCTCTGTGAGATTCATGGGGGACATGGTGTCCTTCGAGGAGGACCGGATCAACGCCACGGTGTGGAAGCTCCAGCCCACAGCCGGCCTCCAGGACCTGCACATCCACTCCCGGCAGGAGGTCAGGGGCAGGCCTGGGCAGGAAGCAGATGCGGGTTGGGCCGGGGCCAGATGGAG... | CCTCTGCCTCTGCCTCTTCCCTGTGTCTCTGTCTGAGTCTCTCGTCCTCCTGCCTCAGTCTCCCTGGTGGCCCGGCCCCCTCCCCACCATCACCACCGCTTTCTCCTCCCTGCCAGGCAGTTGCAGAGCCTGGAGTCGAAACTGACCTCTGTGAGATTCATGGGGGACATGGTGTCCTTCGAGGAGGACCGGATCAACGCCACGGTGTGGAAGCTCCAGCCCACAGCCGGCCTCCAGGACCTGCACATCCACTCCCGGCAGGAGGTCAGGGGCAGGCCTGGGCAGGAAGCAGATGCGGGTTGGGCCGGGGCCAGATGGAG... | pathogenic | 252,602 |
Does the variant on chromosome 16 at location 57657419 affecting gene ADGRG1 (adhesion G protein-coupled receptor G1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bilateral_frontoparietal_polymicrogyria'] | TGGCTGAGCCCTAAAGGGACCTCTGCAGGAGGAGCAGAGCGAGATCATGGAGTACTCGGTGCTGCTGCCTCGAACACTCTTCCAGAGGACGAAAGGCCGGAGCGGGGAGGCTGAGAAGAGACTCCTCCTGGTGGACTTCAGCAGCCAAGCCCTGTTCCAGGTATGGGGTCCTCACCCTCATGCCTCCCAGGAGAAAGCAGTTTTTTTCTGACAGAGGTGGAAAGAAGGCACGCAGATGAGCTCCTTCCTCTGGGAGTCAAAGCCTTTCCTTGTAAAGTTACAAATTGCACTGCAATGTGCAAATCTCCCTGTGAGAGGGC... | TGGCTGAGCCCTAAAGGGACCTCTGCAGGAGGAGCAGAGCGAGATCATGGAGTACTCGGTGCTGCTGCCTCGAACACTCTTCCAGAGGACGAAAGGCCGGAGCGGGGAGGCTGAGAAGAGACTCCTCCTGGTGGACTTCAGCAGCCAAGCCCTGTTCCAGGTATGGGGTCCTCACCCTCATGCCTCCCAGGAGAAAGCAGTTTTTTTCTGACAGAGGTGGAAAGAAGGCACGCAGATGAGCTCCTTCCTCTGGGAGTCAAAGCCTTTCCTTGTAAAGTTACAAATTGCACTGCAATGTGCAAATCTCCCTGTGAGAGGGC... | pathogenic | 252,613 |
Variant at chromosome 16, position 57897488, gene CNGB1 (cyclic nucleotide gated channel subunit beta 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_45'] | AATTGTTTTATAGATAATCAGTAGAATAGACAGAAAAATTTAAGTTGGCATATACATGTATATGTGTGTGTATGTATTTTATATATACATAATATATTATATATGTATTTTTTATATATATATATATATTTGTACTTATACATCTTGGTGTGTATGTGGGTGTGTTTCTTGGTTCTGTCTGCTGCAGAGGCCTAGTAGCACTCCAGTAGCAATGACTGCTCCTAGGACTCAGATCGTGGTTTCTAAAAACCATCCCCCAGTAAAAGGAATCAAGGCTCCTTGGAGAAATGGCCATTTCCAGGATACTGCAAGGGAAGTAC... | AATTGTTTTATAGATAATCAGTAGAATAGACAGAAAAATTTAAGTTGGCATATACATGTATATGTGTGTGTATGTATTTTATATATACATAATATATTATATATGTATTTTTTATATATATATATATATTTGTACTTATACATCTTGGTGTGTATGTGGGTGTGTTTCTTGGTTCTGTCTGCTGCAGAGGCCTAGTAGCACTCCAGTAGCAATGACTGCTCCTAGGACTCAGATCGTGGTTTCTAAAAACCATCCCCCAGTAAAAGGAATCAAGGCTCCTTGGAGAAATGGCCATTTCCAGGATACTGCAAGGGAAGTAC... | pathogenic | 252,732 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 57897489, gene CNGB1 (cyclic nucleotide gated channel subunit beta 1): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_45'] | ATTGTTTTATAGATAATCAGTAGAATAGACAGAAAAATTTAAGTTGGCATATACATGTATATGTGTGTGTATGTATTTTATATATACATAATATATTATATATGTATTTTTTATATATATATATATATTTGTACTTATACATCTTGGTGTGTATGTGGGTGTGTTTCTTGGTTCTGTCTGCTGCAGAGGCCTAGTAGCACTCCAGTAGCAATGACTGCTCCTAGGACTCAGATCGTGGTTTCTAAAAACCATCCCCCAGTAAAAGGAATCAAGGCTCCTTGGAGAAATGGCCATTTCCAGGATACTGCAAGGGAAGTACA... | ATTGTTTTATAGATAATCAGTAGAATAGACAGAAAAATTTAAGTTGGCATATACATGTATATGTGTGTGTATGTATTTTATATATACATAATATATTATATATGTATTTTTTATATATATATATATATTTGTACTTATACATCTTGGTGTGTATGTGGGTGTGTTTCTTGGTTCTGTCTGCTGCAGAGGCCTAGTAGCACTCCAGTAGCAATGACTGCTCCTAGGACTCAGATCGTGGTTTCTAAAAACCATCCCCCAGTAAAAGGAATCAAGGCTCCTTGGAGAAATGGCCATTTCCAGGATACTGCAAGGGAAGTACA... | pathogenic | 252,733 |
Evaluate the clinical significance of the mutation at chromosome 16, position 57897496 in gene CNGB1 (cyclic nucleotide gated channel subunit beta 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_45'] | TATAGATAATCAGTAGAATAGACAGAAAAATTTAAGTTGGCATATACATGTATATGTGTGTGTATGTATTTTATATATACATAATATATTATATATGTATTTTTTATATATATATATATATTTGTACTTATACATCTTGGTGTGTATGTGGGTGTGTTTCTTGGTTCTGTCTGCTGCAGAGGCCTAGTAGCACTCCAGTAGCAATGACTGCTCCTAGGACTCAGATCGTGGTTTCTAAAAACCATCCCCCAGTAAAAGGAATCAAGGCTCCTTGGAGAAATGGCCATTTCCAGGATACTGCAAGGGAAGTACAAGATGAA... | TATAGATAATCAGTAGAATAGACAGAAAAATTTAAGTTGGCATATACATGTATATGTGTGTGTATGTATTTTATATATACATAATATATTATATATGTATTTTTTATATATATATATATATTTGTACTTATACATCTTGGTGTGTATGTGGGTGTGTTTCTTGGTTCTGTCTGCTGCAGAGGCCTAGTAGCACTCCAGTAGCAATGACTGCTCCTAGGACTCAGATCGTGGTTTCTAAAAACCATCCCCCAGTAAAAGGAATCAAGGCTCCTTGGAGAAATGGCCATTTCCAGGATACTGCAAGGGAAGTACAAGATGAA... | pathogenic | 252,734 |
Chromosome 16, position 57901552, gene CNGB1 (cyclic nucleotide gated channel subunit beta 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa'] | GTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGTGAAATGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCACCCTGGGAGAGAGAGTGGGACTTGGTCTCAAATAAACAAACAAACAAACAAATAAATAAATAAGGGGTGGGGGGAGTGACCAAGGACAGTAACTGTCACACTTTTGACTTATTTGACAAAAATTTCCTGTGCATTTCACACATGCATGACCCCCTTAACAAAAAGGTAGAGAGGTTTGCCTCCATGTTTCTGTTTAGTTTGACAAGAGTGAAA... | GTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGTGAAATGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCACCCTGGGAGAGAGAGTGGGACTTGGTCTCAAATAAACAAACAAACAAACAAATAAATAAATAAGGGGTGGGGGGAGTGACCAAGGACAGTAACTGTCACACTTTTGACTTATTTGACAAAAATTTCCTGTGCATTTCACACATGCATGACCCCCTTAACAAAAAGGTAGAGAGGTTTGCCTCCATGTTTCTGTTTAGTTTGACAAGAGTGAAA... | pathogenic | 252,744 |
Located at chromosome 16 position 57903850, the variant affecting gene CNGB1 (cyclic nucleotide gated channel subunit beta 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['CNGB1-related_retinopathy', 'Retinitis_pigmentosa_45'] | CTCTGCCAGGAGCACCCCTGTGCATTTCCCAAACTCCTACTCATTCTTCAGAACCCAGCACTAATATCACCTCCTCCAGGAAGCCTTCCCTGCCTTCCCTTGACATCCTCCACTCAGCTACTATGTTAGTAGCCCCTGCGCTGTTGCAATTATTGGTCACCTGTGTTCCCACTTCCCTGGAAGGACAACATCAGCAAGAACTAAAGTCTCTGGAGCACTTCTATGAGCCAGGCACCTGTTTTTTTTGTTGTTGTTATTTATGTTTTTGTTGTTGTTGTTGTTGTTGTTTTAGACAGTCTCGCTCTGTCACCCAGGCTGGA... | CTCTGCCAGGAGCACCCCTGTGCATTTCCCAAACTCCTACTCATTCTTCAGAACCCAGCACTAATATCACCTCCTCCAGGAAGCCTTCCCTGCCTTCCCTTGACATCCTCCACTCAGCTACTATGTTAGTAGCCCCTGCGCTGTTGCAATTATTGGTCACCTGTGTTCCCACTTCCCTGGAAGGACAACATCAGCAAGAACTAAAGTCTCTGGAGCACTTCTATGAGCCAGGCACCTGTTTTTTTTGTTGTTGTTATTTATGTTTTTGTTGTTGTTGTTGTTGTTGTTTTAGACAGTCTCGCTCTGTCACCCAGGCTGGA... | pathogenic | 252,748 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 57904823, gene CNGB1 (cyclic nucleotide gated channel subunit beta 1): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_45'] | CTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAA... | CTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAA... | pathogenic | 252,756 |
Located at chromosome 16 position 57904823, the variant affecting gene CNGB1 (cyclic nucleotide gated channel subunit beta 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_45'] | CTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAA... | CTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAA... | pathogenic | 252,757 |
Benign or pathogenic: chromosome 16, position 57904840, gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) variant? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy'] | TTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCG... | TTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCG... | pathogenic | 252,758 |
A genetic alteration at chromosome 16, position 57915327, in gene CNGB1 (cyclic nucleotide gated channel subunit beta 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinal_dystrophy'] | ATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCA... | ATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCA... | pathogenic | 252,768 |
Chromosome 16, position 57920457, gene CNGB1 (cyclic nucleotide gated channel subunit beta 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinitis_pigmentosa_45'] | AGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTC... | AGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTC... | pathogenic | 252,783 |
Variant in CNGB1 (cyclic nucleotide gated channel subunit beta 1), chromosome 16, position 57923259—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GAGGCTCTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTTTCACTCTTGTCGCCCAGCTGGAGTGGCAGTGGTATGACCTCGGCTCAGTCAACATTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCACGCCACCAAGCCTGACTAATTTTTGTAGTTTTAGTAGAGAGGGGGTTTCACCAAGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCACCTGCTTCGGCCTCTGAAAGTGCTGGGATTGCAGGCGTGAGACACCGTGCCCGGCCAAGTGTGGG... | GAGGCTCTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTTTCACTCTTGTCGCCCAGCTGGAGTGGCAGTGGTATGACCTCGGCTCAGTCAACATTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCACGCCACCAAGCCTGACTAATTTTTGTAGTTTTAGTAGAGAGGGGGTTTCACCAAGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCACCTGCTTCGGCCTCTGAAAGTGCTGGGATTGCAGGCGTGAGACACCGTGCCCGGCCAAGTGTGGG... | benign | 252,787 |
Classify the chromosome 16 variant at position 57949350 affecting gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_45'] | GTTTTCCAGCCTGGGTGTTAGGTGTACAAGTTCAGCAAGGCAGCCACTTGTAGCTATACACCCCACACAGAAGCACAGCTCCATAGAAAGCAGAGGGCAAACAAGCTGCTCTAATGAAACCAGGCAGCAGCTAAGTTCCTCATCTTGCTGGGACTGCAGGGTGGCTCAGAAGGCAGAATTAGGACAAGTCAGGAAGGGACAGAAGCCATAGGGAAGCAGGCTTAGTTTTGGTCTAAGAAATAATTTCACAAGTCAGCGGGGCATATGGATGACATGGACAGCCTTTGAGAGGTTGTGAGCTCCCCGTCATTGGAGGTAAG... | GTTTTCCAGCCTGGGTGTTAGGTGTACAAGTTCAGCAAGGCAGCCACTTGTAGCTATACACCCCACACAGAAGCACAGCTCCATAGAAAGCAGAGGGCAAACAAGCTGCTCTAATGAAACCAGGCAGCAGCTAAGTTCCTCATCTTGCTGGGACTGCAGGGTGGCTCAGAAGGCAGAATTAGGACAAGTCAGGAAGGGACAGAAGCCATAGGGAAGCAGGCTTAGTTTTGGTCTAAGAAATAATTTCACAAGTCAGCGGGGCATATGGATGACATGGACAGCCTTTGAGAGGTTGTGAGCTCCCCGTCATTGGAGGTAAG... | pathogenic | 252,807 |
Regarding the variant found on chromosome 16 at position 57967226 in gene CNGB1 (cyclic nucleotide gated channel subunit beta 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa'] | CACATACATATGCATGTATACAATGACACACAAATACCAACATGCATATATACACACACATGCACAGACACAAAAATAAGTGCATGTGCACACACGTACAGGCAAAAACATATGTACATATACATGTGTATGTACATATGCATGCATGCCCCAACACATATATGTGCATACAGTCATATGCAAACGTGCATATACACACATGCATTCATACAGATACATACATGCGTATAACTGCCTGTGTACAGACACACAACATGCACATATGCATAGGTACATTGCAGATGTATACAGGTGCAGAAATATGAGTATACACACATATG... | CACATACATATGCATGTATACAATGACACACAAATACCAACATGCATATATACACACACATGCACAGACACAAAAATAAGTGCATGTGCACACACGTACAGGCAAAAACATATGTACATATACATGTGTATGTACATATGCATGCATGCCCCAACACATATATGTGCATACAGTCATATGCAAACGTGCATATACACACATGCATTCATACAGATACATACATGCGTATAACTGCCTGTGTACAGACACACAACATGCACATATGCATAGGTACATTGCAGATGTATACAGGTGCAGAAATATGAGTATACACACATATG... | pathogenic | 252,835 |
Variant in USB1 (U6 snRNA biogenesis phosphodiesterase 1), chromosome 16, position 58001543—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Poikiloderma_with_neutropenia', 'USB1-related_disorder'] | CTTTGTGGCAGCATGAGGTAATGCCAGCGAGAGGGAGGAACTTTCAGAGTCAGATGCAACCCACTTCCAGGTTCCCAGCTCATCTGCCTCTTACATTTAAAAGTTTGTAAGTTTTCTCCTGAGCAGAGGAAGAAGGAAGGAGAAGCCTTCACAGGACAGTCTGGCCTCTAACTGCTCTGCCAAAGAAATGTAAGAGTCAGGCTAAAAGCTGTCATCCTCAGCATCTTCCGGAAGGGAGGGAGGAGAGGAGCGGCTGCTCTGGGTGGAGGCAGCAGGTTGCTTGAGCAAGCAGGTACCACTCTAAGCCTTCTCGGGACAGA... | CTTTGTGGCAGCATGAGGTAATGCCAGCGAGAGGGAGGAACTTTCAGAGTCAGATGCAACCCACTTCCAGGTTCCCAGCTCATCTGCCTCTTACATTTAAAAGTTTGTAAGTTTTCTCCTGAGCAGAGGAAGAAGGAAGGAGAAGCCTTCACAGGACAGTCTGGCCTCTAACTGCTCTGCCAAAGAAATGTAAGAGTCAGGCTAAAAGCTGTCATCCTCAGCATCTTCCGGAAGGGAGGGAGGAGAGGAGCGGCTGCTCTGGGTGGAGGCAGCAGGTTGCTTGAGCAAGCAGGTACCACTCTAAGCCTTCTCGGGACAGA... | pathogenic | 252,839 |
Chromosome 16, position 58020561, gene USB1 (U6 snRNA biogenesis phosphodiesterase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGCACCCGGCCAAGCGTGGTCGGTTTCTGGTGAGGGTTCTTCCTGGCATATAGATGGCCGCCTTCACATGGCGGGGCAGGGGTTGGGGGCTACAGAGAGAGAGAGCAGTGCCCAAGCTCTCTGTGATTAAAGGGCACTAATCATGAGGGTCCTGCCCTCATGACCTCATCTAACCCTAATTACCCCTCAAAGGCCCCATCTTTACATACTATCACATTGGGGGTTAGGGCTACATGAATTTGGGGGAGGTGACACGATTCAGTCCATAGCAAGGACCAGTCCTGTGCTGTTTTGTCTGTCTGTGGAGGGTGCTTGGGATC... | TGCACCCGGCCAAGCGTGGTCGGTTTCTGGTGAGGGTTCTTCCTGGCATATAGATGGCCGCCTTCACATGGCGGGGCAGGGGTTGGGGGCTACAGAGAGAGAGAGCAGTGCCCAAGCTCTCTGTGATTAAAGGGCACTAATCATGAGGGTCCTGCCCTCATGACCTCATCTAACCCTAATTACCCCTCAAAGGCCCCATCTTTACATACTATCACATTGGGGGTTAGGGCTACATGAATTTGGGGGAGGTGACACGATTCAGTCCATAGCAAGGACCAGTCCTGTGCTGTTTTGTCTGTCTGTGGAGGGTGCTTGGGATC... | benign | 252,879 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 58543411, gene CNOT1 (CCR4-NOT transcription complex subunit 1): what disease(s) if pathogenic? | benign | TACCTACAACTCAAAAACTATAGGTGTTTTTTCCCCTGTAAATTATTCTCCCAGGAAGCAAGTCAAAAACATATATTAAATGTCAAAAACATTTAAATTAATTGGCAAAACACTCAATTTAATCTAAAACACATTTACCTTCATGGGCTGGGCTAAAAATCCCGTGGGCTGACTTAAGTCATTTGTAGGTAAGAAGCCAGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAA... | TACCTACAACTCAAAAACTATAGGTGTTTTTTCCCCTGTAAATTATTCTCCCAGGAAGCAAGTCAAAAACATATATTAAATGTCAAAAACATTTAAATTAATTGGCAAAACACTCAATTTAATCTAAAACACATTTACCTTCATGGGCTGGGCTAAAAATCCCGTGGGCTGACTTAAGTCATTTGTAGGTAAGAAGCCAGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAA... | benign | 252,943 |
Regarding the variant at chromosome 16 and position 58543411, affecting gene CNOT1 (CCR4-NOT transcription complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TACCTACAACTCAAAAACTATAGGTGTTTTTTCCCCTGTAAATTATTCTCCCAGGAAGCAAGTCAAAAACATATATTAAATGTCAAAAACATTTAAATTAATTGGCAAAACACTCAATTTAATCTAAAACACATTTACCTTCATGGGCTGGGCTAAAAATCCCGTGGGCTGACTTAAGTCATTTGTAGGTAAGAAGCCAGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAA... | TACCTACAACTCAAAAACTATAGGTGTTTTTTCCCCTGTAAATTATTCTCCCAGGAAGCAAGTCAAAAACATATATTAAATGTCAAAAACATTTAAATTAATTGGCAAAACACTCAATTTAATCTAAAACACATTTACCTTCATGGGCTGGGCTAAAAATCCCGTGGGCTGACTTAAGTCATTTGTAGGTAAGAAGCCAGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAA... | benign | 252,944 |
Is the genetic mutation found on chromosome 16 at position 66513741, within the gene TK2 (thymidine kinase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GCGACTCAGCAGCACAAAGCCATGGGAGAGGCACCGGGGGAATGTGAGGCTGCGAACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCG... | GCGACTCAGCAGCACAAAGCCATGGGAGAGGCACCGGGGGAATGTGAGGCTGCGAACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCG... | pathogenic | 253,028 |
Gene TK2 (thymidine kinase 2) variant at chromosome position 66517147 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_DNA_depletion_syndrome', 'Mitochondrial_DNA_depletion_syndrome,_myopathic_form', 'Mitochondrial_disease'] | CTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCC... | CTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCC... | pathogenic | 253,034 |
Is the genetic change at chromosome 16, position 66517209, within gene TK2 (thymidine kinase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mitochondrial_DNA_depletion_syndrome,_myopathic_form', 'Mitochondrial_disease', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_3'] | ATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATA... | ATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATA... | pathogenic | 253,040 |
Mutation found at chromosome 16 position 66517857, gene TK2 (thymidine kinase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Mitochondrial_disease'] | AGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTAT... | AGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTAT... | pathogenic | 253,044 |
Evaluate the clinical significance of the mutation at chromosome 16, position 66529001 in gene TK2 (thymidine kinase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome,_myopathic_form', 'Mitochondrial_disease', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_3'] | TCGGCTCATTGCAACCTCCGCCTCGGGTTACAGTTCTAATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTG... | TCGGCTCATTGCAACCTCCGCCTCGGGTTACAGTTCTAATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTG... | pathogenic | 253,047 |
The chromosome 16, position 66531382 genetic variant in gene TK2 (thymidine kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome,_myopathic_form', 'Mitochondrial_disease', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_3'] | AGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCC... | AGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCC... | pathogenic | 253,054 |
Is the chromosome 16, position 66531394 variant in TK2 (thymidine kinase 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome', 'Mitochondrial_DNA_depletion_syndrome,_myopathic_form', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_3'] | CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTG... | CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTG... | pathogenic | 253,056 |
A genetic alteration at chromosome 16, position 66548983, in gene TK2 (thymidine kinase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Mitochondrial_disease'] | TAGAAACAGCATTTTGCCATGTTGCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCAATCCTCCCACCTTTGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCATTAGGTATGGCCCTGTTGGATGTTAAGTTCTGTCCAGTTATTTTATTAAAAAACTTTGTTGTGATACTCAATTATCTAATATTGTAAACTGTGCCATGTAATGGCTGCACCATCCACCCAGACACCTTTAACACTCTGGACATCTCTCCTCACCCACCAACACCAGTCAACCAACCAGCAACTCCCCTGGGCCCTGCTTTCCCACTCAGCTGCG... | TAGAAACAGCATTTTGCCATGTTGCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCAATCCTCCCACCTTTGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCATTAGGTATGGCCCTGTTGGATGTTAAGTTCTGTCCAGTTATTTTATTAAAAAACTTTGTTGTGATACTCAATTATCTAATATTGTAAACTGTGCCATGTAATGGCTGCACCATCCACCCAGACACCTTTAACACTCTGGACATCTCTCCTCACCCACCAACACCAGTCAACCAACCAGCAACTCCCCTGGGCCCTGCTTTCCCACTCAGCTGCG... | pathogenic | 253,076 |
Chromosome 16, position 66548988, gene TK2 (thymidine kinase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome,_myopathic_form', 'Mitochondrial_disease', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_3'] | ACAGCATTTTGCCATGTTGCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCAATCCTCCCACCTTTGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCATTAGGTATGGCCCTGTTGGATGTTAAGTTCTGTCCAGTTATTTTATTAAAAAACTTTGTTGTGATACTCAATTATCTAATATTGTAAACTGTGCCATGTAATGGCTGCACCATCCACCCAGACACCTTTAACACTCTGGACATCTCTCCTCACCCACCAACACCAGTCAACCAACCAGCAACTCCCCTGGGCCCTGCTTTCCCACTCAGCTGCGGGCTC... | ACAGCATTTTGCCATGTTGCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCAATCCTCCCACCTTTGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCATTAGGTATGGCCCTGTTGGATGTTAAGTTCTGTCCAGTTATTTTATTAAAAAACTTTGTTGTGATACTCAATTATCTAATATTGTAAACTGTGCCATGTAATGGCTGCACCATCCACCCAGACACCTTTAACACTCTGGACATCTCTCCTCACCCACCAACACCAGTCAACCAACCAGCAACTCCCCTGGGCCCTGCTTTCCCACTCAGCTGCGGGCTC... | pathogenic | 253,077 |
Is the genetic mutation found on chromosome 16 at position 66549001, within the gene TK2 (thymidine kinase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome,_myopathic_form', 'Mitochondrial_disease'] | ATGTTGCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCAATCCTCCCACCTTTGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCATTAGGTATGGCCCTGTTGGATGTTAAGTTCTGTCCAGTTATTTTATTAAAAAACTTTGTTGTGATACTCAATTATCTAATATTGTAAACTGTGCCATGTAATGGCTGCACCATCCACCCAGACACCTTTAACACTCTGGACATCTCTCCTCACCCACCAACACCAGTCAACCAACCAGCAACTCCCCTGGGCCCTGCTTTCCCACTCAGCTGCGGGCTCTGTGCCATCTCTA... | ATGTTGCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCAATCCTCCCACCTTTGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCATTAGGTATGGCCCTGTTGGATGTTAAGTTCTGTCCAGTTATTTTATTAAAAAACTTTGTTGTGATACTCAATTATCTAATATTGTAAACTGTGCCATGTAATGGCTGCACCATCCACCCAGACACCTTTAACACTCTGGACATCTCTCCTCACCCACCAACACCAGTCAACCAACCAGCAACTCCCCTGGGCCCTGCTTTCCCACTCAGCTGCGGGCTCTGTGCCATCTCTA... | pathogenic | 253,080 |
Variant chromosome 16, position 66549006, gene TK2 (thymidine kinase 2): benign or pathogenic? Disease(s)? | pathogenic | GCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCAATCCTCCCACCTTTGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCATTAGGTATGGCCCTGTTGGATGTTAAGTTCTGTCCAGTTATTTTATTAAAAAACTTTGTTGTGATACTCAATTATCTAATATTGTAAACTGTGCCATGTAATGGCTGCACCATCCACCCAGACACCTTTAACACTCTGGACATCTCTCCTCACCCACCAACACCAGTCAACCAACCAGCAACTCCCCTGGGCCCTGCTTTCCCACTCAGCTGCGGGCTCTGTGCCATCTCTAGTTTA... | GCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCAATCCTCCCACCTTTGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCATTAGGTATGGCCCTGTTGGATGTTAAGTTCTGTCCAGTTATTTTATTAAAAAACTTTGTTGTGATACTCAATTATCTAATATTGTAAACTGTGCCATGTAATGGCTGCACCATCCACCCAGACACCTTTAACACTCTGGACATCTCTCCTCACCCACCAACACCAGTCAACCAACCAGCAACTCCCCTGGGCCCTGCTTTCCCACTCAGCTGCGGGCTCTGTGCCATCTCTAGTTTA... | pathogenic | 253,081 |
A genetic variant on chromosome 16, position 67167823, affects the gene HSF4 (heat shock transcription factor 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cataract_5_multiple_types'] | GACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAG... | GACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAG... | pathogenic | 253,114 |
Is the genetic mutation found on chromosome 16 at position 67611443, within the gene CTCF (CCCTC-binding factor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Intellectual_disability-feeding_difficulties-developmental_delay-microcephaly_syndrome'] | ACATGTGTAAGATTTAAATTAGTTTTGTTAGTAATTCTTTAATATCATCAGATATCCAGAGTTGAAATTTCTAATTGTCTTGTGTCACATCTTTTTCACCATTTATTGGTTTGAATCAGGATCCAAAGAAGATTCATGCATTGTGATTGATTACTGTCTCTTTAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTC... | ACATGTGTAAGATTTAAATTAGTTTTGTTAGTAATTCTTTAATATCATCAGATATCCAGAGTTGAAATTTCTAATTGTCTTGTGTCACATCTTTTTCACCATTTATTGGTTTGAATCAGGATCCAAAGAAGATTCATGCATTGTGATTGATTACTGTCTCTTTAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTC... | pathogenic | 253,152 |
Evaluate the clinical significance of the mutation at chromosome 16, position 67611605 in gene CTCF (CCCTC-binding factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Intellectual_disability-feeding_difficulties-developmental_delay-microcephaly_syndrome'] | TAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCGGTAATCTGCCCGCCT... | TAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCGGTAATCTGCCCGCCT... | pathogenic | 253,154 |
The chromosome 16, position 67612109 genetic variant in gene CTCF (CCCTC-binding factor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | TGTTCCTAGAGGCAAAGTCACCCCAGGCTGAGAACTACTGATCTACTGGTTCTCCCTCCAATCAGTCTTCCCTTGTATTCTTCTTGTTATCTATTTGCAGAAGAACCTGAGTATAATCTTGCAGTGTTTCCCTCGGTATGGATTTCACTGATTTAATCCCTGTAGTATAATTTAACATCCTGAGTCACCAATTTCCTGTTAATTGGGTTGGATCTAGAGACTTGATTGGTTTCAGAGTTTTGGAGTTTGTTTGACAAAATTGCATTATAGGTAGTGGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGT... | TGTTCCTAGAGGCAAAGTCACCCCAGGCTGAGAACTACTGATCTACTGGTTCTCCCTCCAATCAGTCTTCCCTTGTATTCTTCTTGTTATCTATTTGCAGAAGAACCTGAGTATAATCTTGCAGTGTTTCCCTCGGTATGGATTTCACTGATTTAATCCCTGTAGTATAATTTAACATCCTGAGTCACCAATTTCCTGTTAATTGGGTTGGATCTAGAGACTTGATTGGTTTCAGAGTTTTGGAGTTTGTTTGACAAAATTGCATTATAGGTAGTGGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGT... | pathogenic | 253,157 |
For chromosome 16, position 67628517, gene CTCF (CCCTC-binding factor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | AAAAAGAATCGAGAAATGTATTAGTAACTTGTTAAAATGCTTGTTTGTGTTTTCACATTACCCTGGGCTTTTTACTGTGCTTTCAGGTGTCCACTTGCGAAAGCAGCATTCCTATATTGAGCAAGGCAAGAAATGCCGTTACTGTGATGCTGTGTTTCATGAGCGCTATGCCCTCATCCAGCATCAGAAGTCACACAAGAATGAGAAGCGCTTTAAGTGTGACCAGTGTGATTACGCTTGTAGACAGGTAGGAACCTTCATTGAAAGTTGTTGGTGCTTTCTCGGTGTCTGGTGTTATCAGAGGGCATTTACATATCTAG... | AAAAAGAATCGAGAAATGTATTAGTAACTTGTTAAAATGCTTGTTTGTGTTTTCACATTACCCTGGGCTTTTTACTGTGCTTTCAGGTGTCCACTTGCGAAAGCAGCATTCCTATATTGAGCAAGGCAAGAAATGCCGTTACTGTGATGCTGTGTTTCATGAGCGCTATGCCCTCATCCAGCATCAGAAGTCACACAAGAATGAGAAGCGCTTTAAGTGTGACCAGTGTGATTACGCTTGTAGACAGGTAGGAACCTTCATTGAAAGTTGTTGGTGCTTTCTCGGTGTCTGGTGTTATCAGAGGGCATTTACATATCTAG... | pathogenic | 253,170 |
Benign or pathogenic: chromosome 16, position 67647689, gene CARMIL2 (capping protein regulator and myosin 1 linker 2) variant? Disease(s) if pathogenic? | pathogenic | AGGGGACAGAGCCGGGGAGGCGGCTGTGGCCCCACAGAAAGAGCCTCTTGCTCTGCCCAGGATATCAGACTGTCTTTCCCCAGGCACTGCTACGATGGAGAGCCTACCTGCTGCACACCACCTGCCTCCCGCTGAGGGTGAGTCCCAGGGCCTGGCCACACCCCCGCCCGCCAGCAGCTACCTTGGCAGGGGGCTGCATCTGCAGAGTGGTCCTTCTTGGCCTTGTGGGCCCTGACTTTGCACCAGCACTGGGCTCTGGGCAGCCGACAGGAGGGGAGTCCAGGCAGATCTGGCTCTGCCCCAGGCTGCCCAAAGGACTG... | AGGGGACAGAGCCGGGGAGGCGGCTGTGGCCCCACAGAAAGAGCCTCTTGCTCTGCCCAGGATATCAGACTGTCTTTCCCCAGGCACTGCTACGATGGAGAGCCTACCTGCTGCACACCACCTGCCTCCCGCTGAGGGTGAGTCCCAGGGCCTGGCCACACCCCCGCCCGCCAGCAGCTACCTTGGCAGGGGGCTGCATCTGCAGAGTGGTCCTTCTTGGCCTTGTGGGCCCTGACTTTGCACCAGCACTGGGCTCTGGGCAGCCGACAGGAGGGGAGTCCAGGCAGATCTGGCTCTGCCCCAGGCTGCCCAAAGGACTG... | pathogenic | 253,194 |
A genetic alteration at chromosome 16, position 67940388, in gene LCAT (lecithin-cholesterol acyltransferase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fish-eye_disease', 'Norum_disease'] | CAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAA... | CAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAA... | pathogenic | 253,415 |
Does the genetic variant at chromosome 16, position 67944000, impacting gene LCAT, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'LCAT_deficiency'] | CCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGA... | CCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGA... | pathogenic | 253,435 |
Does the variant on chromosome 16 at location 68337535 affecting gene PRMT7 (protein arginine methyltransferase 7) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases'] | TCTCGGGAGGGTGGTCTCTGTGGCAGAAGACAGAAGTTTCTTCTTAAGCTCCTCCACGTGATACTGTCATGGAGCACAGGTGAGCTTCATAGGAAGTGTGCTTTTTTTTTTTTATCTTCATCATCCCGACCACCACCACATGAGACAGAGCCCATTCACCCGTTTTACTGATGAGGCAACTGATGGTCAGAACGGAGGGCTCAGGGATAGGAAGTGAGATCCAGGCCAGGCTCCAGCCTCGAGCTCGAGGTTCACGCTGTCTCTGTTGTGCTCTTCTATCAGCTGCTCTCTTTCTTTTTTTTTTTTTTTTGAAATGGAGT... | TCTCGGGAGGGTGGTCTCTGTGGCAGAAGACAGAAGTTTCTTCTTAAGCTCCTCCACGTGATACTGTCATGGAGCACAGGTGAGCTTCATAGGAAGTGTGCTTTTTTTTTTTTATCTTCATCATCCCGACCACCACCACATGAGACAGAGCCCATTCACCCGTTTTACTGATGAGGCAACTGATGGTCAGAACGGAGGGCTCAGGGATAGGAAGTGAGATCCAGGCCAGGCTCCAGCCTCGAGCTCGAGGTTCACGCTGTCTCTGTTGTGCTCTTCTATCAGCTGCTCTCTTTCTTTTTTTTTTTTTTTTGAAATGGAGT... | pathogenic | 253,451 |
The chromosome 16, position 68347257 genetic variant in gene PRMT7 (protein arginine methyltransferase 7): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Short_stature-brachydactyly-obesity-global_developmental_delay_syndrome'] | TTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGT... | TTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGT... | pathogenic | 253,464 |
A genetic variant at chromosome 16, position 68679935, affecting gene CDH3 (cadherin 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Congenital_hypotrichosis_with_juvenile_macular_dystrophy', 'EEM_syndrome', 'Macular_dystrophy'] | TCCCTTGCAATAGGCTCATCTAGGTCTCCTCACCCTTAACTTTTTTTTTTTTTTAATTTAACTTAGGGTCTCGCTATCTTGCCCAGGCTGCTCTGGAACTCCTGGGCTCAAGTGACCCTCCCAAAGTACTGGGATTATAGGCGTGAGCTACCATGCCCAGCCACCCTTTTAACTCTTATAGGTGAGAGGATGTTGAGCATGTCCCAGCTATTTGCACATCTGGGTTAAGGAGTTTCTCTCCTTGCAGGAAAGAAGGTCACTGAAGGAAAGGAATCCATTGAAGATCTTCCCATCCAAACGTATCTTACGAAGACACAAGA... | TCCCTTGCAATAGGCTCATCTAGGTCTCCTCACCCTTAACTTTTTTTTTTTTTTAATTTAACTTAGGGTCTCGCTATCTTGCCCAGGCTGCTCTGGAACTCCTGGGCTCAAGTGACCCTCCCAAAGTACTGGGATTATAGGCGTGAGCTACCATGCCCAGCCACCCTTTTAACTCTTATAGGTGAGAGGATGTTGAGCATGTCCCAGCTATTTGCACATCTGGGTTAAGGAGTTTCTCTCCTTGCAGGAAAGAAGGTCACTGAAGGAAAGGAATCCATTGAAGATCTTCCCATCCAAACGTATCTTACGAAGACACAAGA... | pathogenic | 253,493 |
Classify the chromosome 16 variant at position 68737439 affecting gene CDH1 (cadherin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGC... | GTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGC... | pathogenic | 253,556 |
Clinically, how would you classify the variant at chromosome 16, position 68737444, gene CDH1 (cadherin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGAT... | TACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGAT... | benign | 253,561 |
Regarding the variant found on chromosome 16 at position 68737444 in gene CDH1 (cadherin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGAT... | TACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGAT... | benign | 253,562 |
Mutation at chromosome 16, position 68737445, within CDH1 (cadherin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | ACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATC... | ACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATC... | pathogenic | 253,564 |
Variant at chromosome position 68737456, chromosome 16, gene CDH1 (cadherin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | AAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTG... | AAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTG... | pathogenic | 253,568 |
Is the genetic change at chromosome 16, position 68737469, within gene CDH1 (cadherin 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTC... | TCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTC... | benign | 253,577 |
Clinical significance of chromosome 16, position 68737477, gene CDH1 (cadherin 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTC... | GCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTC... | benign | 253,583 |
Assess the variant on chromosome 16, position 68737515, impacting CDH1 (cadherin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA... | GAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA... | benign | 253,586 |
Gene CDH1 (cadherin 1) variant at chromosome position 68738281 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACT... | ATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACT... | benign | 253,590 |
Mutation at chromosome 16, position 68738284, within CDH1 (cadherin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCA... | TGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCA... | benign | 253,593 |
Determine if the mutation at chromosome 16, position 68738284 in gene CDH1 (cadherin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCA... | TGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCA... | benign | 253,594 |
Determine whether the variant at chromosome 16, position 68738372, in gene CDH1 (cadherin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | ACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCAT... | ACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCAT... | pathogenic | 253,636 |
Clinical significance of chromosome 16, position 68738390, gene CDH1 (cadherin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma', 'Ovarian_cancer'] | TTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCC... | TTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCC... | pathogenic | 253,640 |
Chromosome 16, position 68738395, gene CDH1 (cadherin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | GAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCA... | GAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCA... | pathogenic | 253,641 |
Mutation found at chromosome 16 position 68738413, gene CDH1 (cadherin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCA... | TCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCA... | benign | 253,652 |
Is the genetic variant on chromosome 16, position 68801650, gene CDH1 (cadherin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCTGGAATTCAGGTTGGGGCTCCCTCTCATACTGTCACTTCTCAAAGGGTAGGGCTTTGAATAGATAGATTATAGGTATAATCTATCTATAAACTAATATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGA... | CCTGGAATTCAGGTTGGGGCTCCCTCTCATACTGTCACTTCTCAAAGGGTAGGGCTTTGAATAGATAGATTATAGGTATAATCTATCTATAAACTAATATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGA... | benign | 253,665 |
Does the variant on chromosome 16 at location 68801688 affecting gene CDH1 (cadherin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTCTCAAAGGGTAGGGCTTTGAATAGATAGATTATAGGTATAATCTATCTATAAACTAATATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCG... | TTCTCAAAGGGTAGGGCTTTGAATAGATAGATTATAGGTATAATCTATCTATAAACTAATATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCG... | pathogenic | 253,679 |
Mutation at chromosome 16, position 68801707, within CDH1 (cadherin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | TGAATAGATAGATTATAGGTATAATCTATCTATAAACTAATATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTC... | TGAATAGATAGATTATAGGTATAATCTATCTATAAACTAATATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTC... | pathogenic | 253,689 |
Variant at chromosome 16, position 68801709, gene CDH1 (cadherin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | AATAGATAGATTATAGGTATAATCTATCTATAAACTAATATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCA... | AATAGATAGATTATAGGTATAATCTATCTATAAACTAATATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCA... | pathogenic | 253,690 |
Considering the variant on chromosome 16, location 68801748, involving gene CDH1 (cadherin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | ATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAA... | ATAATCTTCCTTTTAAAAATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAA... | pathogenic | 253,706 |
Is the genetic variant on chromosome 16, position 68801765, gene CDH1 (cadherin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | AATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAA... | AATAACCAAGGTTGGGGCCGGGTGTGGTGGCTCATTCATGTAATCCCAGCACTTTGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAA... | pathogenic | 253,714 |
Is the genetic change at chromosome 16, position 68801819, within gene CDH1 (cadherin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | TGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTA... | TGGGAGGCGAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTA... | pathogenic | 253,734 |
Variant in CDH1 (cadherin 1), chromosome 16, position 68801827—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTAGCACTTTG... | GAGGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTAGCACTTTG... | pathogenic | 253,738 |
Clinical classification of chromosome 16, position 68801829, gene CDH1 (cadherin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | GGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTAGCACTTTGGA... | GGTGGATGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTAGCACTTTGGA... | pathogenic | 253,739 |
Gene CDH1 (cadherin 1) variant at chromosome position 68801862 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | ACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTAGCACTTTGGAAGGCCGAGGCAGGAAGACTGGTTGAGTCCAGGA... | ACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTAGCACTTTGGAAGGCCGAGGCAGGAAGACTGGTTGAGTCCAGGA... | pathogenic | 253,751 |
Is the genetic variant on chromosome 16, position 68801862, gene CDH1 (cadherin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | ACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTAGCACTTTGGAAGGCCGAGGCAGGAAGACTGGTTGAGTCCAGGA... | ACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATTACATAAATTATTCAGGTGTGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTGTCTCAAAAAAAATTAATAGTAATAATAATTAAAAAAAAAAAAAAAACCAAGGTTGGCTGGGCACACTGGCTTATGCCTGTCATCCTAGCACTTTGGAAGGCCGAGGCAGGAAGACTGGTTGAGTCCAGGA... | pathogenic | 253,752 |
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