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 |
|---|---|---|---|---|---|
Classify the chromosome 7 variant at position 41965619 affecting gene GLI3 (GLI family zinc finger 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['GLI3-related_disorder', 'Greig_cephalopolysyndactyly_syndrome', 'Pallister-Hall_syndrome'] | AAATGTGATAACTGAGAATCGACCATACAGACATAGCCTCCCCCAAAGCACACTTACAGACATGAAGAGCTGAAAACCAAAACTGTGAGCGCCCATTTCATTTATAAGAGCCCCACGTTCCCATTTCTGTTTAACTGTGGAATGCCCTGAACTGAATTGGAGATGGGGGGAACATCAATATTCTGTCATCTATGCTACAGTGCACCCACAAAAGTTTCTTAAACTAGCTATCCATATTCTGATTCTTGTGCCCAATGTGGGAATTAAAATAAAAAACAGAAACCAAAACACAAAACAAAACACTGAGCACATGTAAAGGA... | AAATGTGATAACTGAGAATCGACCATACAGACATAGCCTCCCCCAAAGCACACTTACAGACATGAAGAGCTGAAAACCAAAACTGTGAGCGCCCATTTCATTTATAAGAGCCCCACGTTCCCATTTCTGTTTAACTGTGGAATGCCCTGAACTGAATTGGAGATGGGGGGAACATCAATATTCTGTCATCTATGCTACAGTGCACCCACAAAAGTTTCTTAAACTAGCTATCCATATTCTGATTCTTGTGCCCAATGTGGGAATTAAAATAAAAAACAGAAACCAAAACACAAAACAAAACACTGAGCACATGTAAAGGA... | pathogenic | 118,010 |
Clinical significance of chromosome 7, position 41965989, gene GLI3 (GLI family zinc finger 3): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTATTTCCTTTGAGCAACAGCAAAACATGTCAAATCCTTTAATTTGACTGCTCTTCTAAAAGAAAGAAGAATATGCACATCACAAATTTACATCGGTTTACTAAAAAGGGGGCGGGGCTTACAGTTTTTTTTTTTTTTTTTAAAAAGAGGGTGGTTTGAGTGTAACAATACTGATTCAAAACTGAAATGGAAGACAGTTTCTCCCTAGAATACTTTAGGGTTTTTCAGAGTCCTTTTCCATAAAAGGAATATAATTGAAACACATCTCAGTTAGGTGAGATGAGATTGCTAAAATACATACAGAACTAAAAAAACAGCCA... | CTATTTCCTTTGAGCAACAGCAAAACATGTCAAATCCTTTAATTTGACTGCTCTTCTAAAAGAAAGAAGAATATGCACATCACAAATTTACATCGGTTTACTAAAAAGGGGGCGGGGCTTACAGTTTTTTTTTTTTTTTTTAAAAAGAGGGTGGTTTGAGTGTAACAATACTGATTCAAAACTGAAATGGAAGACAGTTTCTCCCTAGAATACTTTAGGGTTTTTCAGAGTCCTTTTCCATAAAAGGAATATAATTGAAACACATCTCAGTTAGGTGAGATGAGATTGCTAAAATACATACAGAACTAAAAAAACAGCCA... | benign | 118,021 |
A genetic variant at chromosome 7, position 41972558, affecting gene GLI3 (GLI family zinc finger 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Greig_cephalopolysyndactyly_syndrome', 'Pallister-Hall_syndrome', 'Polydactyly,_postaxial,_type_A1', 'Polysyndactyly_4'] | GTGGGTTTTGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACG... | GTGGGTTTTGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACG... | pathogenic | 118,049 |
A genetic variant on chromosome 7, position 42026427, affects the gene GLI3 (GLI family zinc finger 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGCAAGGTTGTTGCTGTCTGGCGATATGCAAGAGGAAAGATCCATTTCAGAGCCCGTGACACAATTTACTCCAGCCTCCACGTTCTTGCTGAAAAGGAAATTTGGGCAAGCAGTCTGAGGTTTGGGCTGAAGCAGCCTGATGACAGCAAGGTCCAGATTCTGTGGACATCTGGACTCTTGTCCAATCTCTATGGTGGGGAATTAGCATTCATAGAGCTCCTTCCTGCATCAGGCTGAGAGCCCTATGAGATGATATTATGGGTATAACCTACACATCCTTAAACTGAGGCCCAGAGAATTTAAGTGACTAGAGGCGGAGT... | AGCAAGGTTGTTGCTGTCTGGCGATATGCAAGAGGAAAGATCCATTTCAGAGCCCGTGACACAATTTACTCCAGCCTCCACGTTCTTGCTGAAAAGGAAATTTGGGCAAGCAGTCTGAGGTTTGGGCTGAAGCAGCCTGATGACAGCAAGGTCCAGATTCTGTGGACATCTGGACTCTTGTCCAATCTCTATGGTGGGGAATTAGCATTCATAGAGCTCCTTCCTGCATCAGGCTGAGAGCCCTATGAGATGATATTATGGGTATAACCTACACATCCTTAAACTGAGGCCCAGAGAATTTAAGTGACTAGAGGCGGAGT... | benign | 118,075 |
Chromosome 7, position 42040252, gene GLI3 (GLI family zinc finger 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGGAGCAGCCAGGCCAGGGTTCTGAGACTGGCATGCTTCCTCGGGGCCAGACTGGGATGGAGAGCAGTGTAGCATAGACAGCCATCACAGGATGGCTCCTCTCCTGGATGAACCATCCCAGCTCAGCTCCCCCTGAAACTTCACCCCAGGTAGGAATCTCATCCTGCCATTGCAGATCCACACCAGCTTTAGTAAAATGTGCATTCTTCCTGTATAGAGGGTGTCTTATCTGTAGTTTACAGATGTGAAGACTAAACTTCAAAGAGCTGAGAGGTAAGTTAGGTTTGTATAGCTGGTTGGTGGCAAAGCTGGAATCTGAC... | AGGAGCAGCCAGGCCAGGGTTCTGAGACTGGCATGCTTCCTCGGGGCCAGACTGGGATGGAGAGCAGTGTAGCATAGACAGCCATCACAGGATGGCTCCTCTCCTGGATGAACCATCCCAGCTCAGCTCCCCCTGAAACTTCACCCCAGGTAGGAATCTCATCCTGCCATTGCAGATCCACACCAGCTTTAGTAAAATGTGCATTCTTCCTGTATAGAGGGTGTCTTATCTGTAGTTTACAGATGTGAAGACTAAACTTCAAAGAGCTGAGAGGTAAGTTAGGTTTGTATAGCTGGTTGGTGGCAAAGCTGGAATCTGAC... | benign | 118,085 |
Clinical significance of chromosome 7, position 42148135, gene GLI3 (GLI family zinc finger 3): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGAGTACATTGGGATGGTAGGTCAAAATTGTATTTGCCATTTGGTTACAGAGAACTTATACAGTTTATAAGTTATCACATAATTTTAACACTGATTTGGACAATATTGTGGGAGAATGTAACGAATAATCCACTATGAATGCTGTAACCTCAAAACAGAGTGATGATGAATGAATTCAGATCCCCCTAAGAGCTCTCCCGTGCCCATCATTAGTTAATAGGACATTGGAGGTCCAGGAGATGGGTCCCACTTGCACCGCTGAAGGAAGACAAGGGTCCCAGGTGTAGAGAGCTCCCAGCCCCTCAGAGGACGGGAAGATT... | GGAGTACATTGGGATGGTAGGTCAAAATTGTATTTGCCATTTGGTTACAGAGAACTTATACAGTTTATAAGTTATCACATAATTTTAACACTGATTTGGACAATATTGTGGGAGAATGTAACGAATAATCCACTATGAATGCTGTAACCTCAAAACAGAGTGATGATGAATGAATTCAGATCCCCCTAAGAGCTCTCCCGTGCCCATCATTAGTTAATAGGACATTGGAGGTCCAGGAGATGGGTCCCACTTGCACCGCTGAAGGAAGACAAGGGTCCCAGGTGTAGAGAGCTCCCAGCCCCTCAGAGGACGGGAAGATT... | benign | 118,103 |
Is the variant located on chromosome 7 at position 44107495, gene AEBP1 (AE binding protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | ACTGAAGCATTTAACCCACGGCCTCTTGCATAATCAGTTGTCAGTAAATCTTAGCTGTTTTCATCGTGGCCCTCTGGAAGGTGGCAGAGGGTCTTGTGATCCCTGTCTCCCAGGAGATTCCAAGGCACCATCCAACATTCCTGATGTCAGCAGCCCCTCCCCTGCCACCCCAGCTCTAGATCTTTCCTGGCTGCTTCCCACACCCTGGGCTGCCTGTGCCCCTCCTGCCTCTGGCTCTCCTTCCAGGCTTGCTCTCCTGGCTCTGGGGCACCGCTCTAGCAGCCCTGCGTCCCCTGGCTGTCTGCATTTGGTAGCTTTCC... | ACTGAAGCATTTAACCCACGGCCTCTTGCATAATCAGTTGTCAGTAAATCTTAGCTGTTTTCATCGTGGCCCTCTGGAAGGTGGCAGAGGGTCTTGTGATCCCTGTCTCCCAGGAGATTCCAAGGCACCATCCAACATTCCTGATGTCAGCAGCCCCTCCCCTGCCACCCCAGCTCTAGATCTTTCCTGGCTGCTTCCCACACCCTGGGCTGCCTGTGCCCCTCCTGCCTCTGGCTCTCCTTCCAGGCTTGCTCTCCTGGCTCTGGGGCACCGCTCTAGCAGCCCTGCGTCCCCTGGCTGTCTGCATTTGGTAGCTTTCC... | pathogenic | 118,147 |
Clinical significance of chromosome 7, position 44107690, gene AEBP1 (AE binding protein 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ehlers-Danlos_syndrome,_classic-like,_2'] | TCCCACACCCTGGGCTGCCTGTGCCCCTCCTGCCTCTGGCTCTCCTTCCAGGCTTGCTCTCCTGGCTCTGGGGCACCGCTCTAGCAGCCCTGCGTCCCCTGGCTGTCTGCATTTGGTAGCTTTCCTGTGTTTCTGCCAAACTTCCCTCATGCTCCCCACCTCTCATCAGGTTCTCAACAGCACTTGCAGCTCCTGCTTAGGGTCCTGGGAGGATTCCCATGGGGAATCCTCACAACCAGTCCCTGCTCCCTCTCCCAGACTCTGAAATGAGTGTGCAGCCACAAGCTCCCTACCTGTCTTTTCTGTCCTCTGTGTGATCC... | TCCCACACCCTGGGCTGCCTGTGCCCCTCCTGCCTCTGGCTCTCCTTCCAGGCTTGCTCTCCTGGCTCTGGGGCACCGCTCTAGCAGCCCTGCGTCCCCTGGCTGTCTGCATTTGGTAGCTTTCCTGTGTTTCTGCCAAACTTCCCTCATGCTCCCCACCTCTCATCAGGTTCTCAACAGCACTTGCAGCTCCTGCTTAGGGTCCTGGGAGGATTCCCATGGGGAATCCTCACAACCAGTCCCTGCTCCCTCTCCCAGACTCTGAAATGAGTGTGCAGCCACAAGCTCCCTACCTGTCTTTTCTGTCCTCTGTGTGATCC... | pathogenic | 118,149 |
Does the chromosome 7 mutation at position 44107968 within gene AEBP1 (AE binding protein 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCACAAGCTCCCTACCTGTCTTTTCTGTCCTCTGTGTGATCCCTGAACCCCCCAGGACTCCCTATCCTTCCAATCAATTCCAAACCCCTTACTTCTCGAAAGGAGACCACTTCCTCTTCTTTGGGCTTCAATACTCAACCAAGTGTCCCTTTTCTTTGAAGCTTTTCTTGCCCCGTAGGAGACCAGGGGAAGGTCTTGGGCCCATGTCCCTTCCTTTGTATGGCAGTTGGCAGGGATGACCAGATGCTCCTCCAGGCCTGGATGGCTCAGTCACCTCTCTGCCCCTTCTGTGCCCAGAACAGAATAGTGGAGGAGTGGAT... | CCACAAGCTCCCTACCTGTCTTTTCTGTCCTCTGTGTGATCCCTGAACCCCCCAGGACTCCCTATCCTTCCAATCAATTCCAAACCCCTTACTTCTCGAAAGGAGACCACTTCCTCTTCTTTGGGCTTCAATACTCAACCAAGTGTCCCTTTTCTTTGAAGCTTTTCTTGCCCCGTAGGAGACCAGGGGAAGGTCTTGGGCCCATGTCCCTTCCTTTGTATGGCAGTTGGCAGGGATGACCAGATGCTCCTCCAGGCCTGGATGGCTCAGTCACCTCTCTGCCCCTTCTGTGCCCAGAACAGAATAGTGGAGGAGTGGAT... | benign | 118,152 |
Variant at chromosome 7, position 44112520, gene AEBP1 (AE binding protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGAGGGACTCACCCTGCCCATCCCCACTCCTCAGCCTGGTCAGTCAGCCCCTGTGTCCTGATAGCACATGAGTTTAGGGACAGATCACCTGCCCATGGCTATGTGACGGGCATAGGACCCAGGCTCAACACCTGGGCCGTGCAGCACCACCCTGCTAGCTCTTAAATTCTTGGGGCTCGGAAGAGGGAGGCTCAGGCCACCTGAGGGCCTGGGAGGGGGAAGACCCTTGCTCTGACCACTGTCCACTCCACAGTGACGATTTTGTGACCACCTTCTTCGTGGGCTTCAGCAATGACAGCCAGACATGGGTGATGTACACC... | TGAGGGACTCACCCTGCCCATCCCCACTCCTCAGCCTGGTCAGTCAGCCCCTGTGTCCTGATAGCACATGAGTTTAGGGACAGATCACCTGCCCATGGCTATGTGACGGGCATAGGACCCAGGCTCAACACCTGGGCCGTGCAGCACCACCCTGCTAGCTCTTAAATTCTTGGGGCTCGGAAGAGGGAGGCTCAGGCCACCTGAGGGCCTGGGAGGGGGAAGACCCTTGCTCTGACCACTGTCCACTCCACAGTGACGATTTTGTGACCACCTTCTTCGTGGGCTTCAGCAATGACAGCCAGACATGGGTGATGTACACC... | benign | 118,172 |
Is the chromosome 7, position 44112925 variant in AEBP1 (AE binding protein 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCTGGCAGTACTGCTCTGAGGCCTGCCTCTCCCCAGACCTTTCATGGGAACGTGGACAAGGACACACCCGTGCTGAGTGAGCTCCCAGAGCCGGTGGTGGCTCGTTTCATCCGCATCTACCCACTCACCTGGAATGGCAGCCTGTGCATGCGCCTGGAGGTGCTGGGGTGCTCTGTGGCCCGTGAGTGTGGAGGGCTGGCAGGGGCTCTGAGTGGAGGTGGGGTGCTAGGGTGGGCCAGCCGGCACCCAGCTAAAGACAACCCCGCCTCCCTTGCAGCTGTCTACAGCTACTACGCACAGAATGAGGTGGTGGCCACCGA... | GCTGGCAGTACTGCTCTGAGGCCTGCCTCTCCCCAGACCTTTCATGGGAACGTGGACAAGGACACACCCGTGCTGAGTGAGCTCCCAGAGCCGGTGGTGGCTCGTTTCATCCGCATCTACCCACTCACCTGGAATGGCAGCCTGTGCATGCGCCTGGAGGTGCTGGGGTGCTCTGTGGCCCGTGAGTGTGGAGGGCTGGCAGGGGCTCTGAGTGGAGGTGGGGTGCTAGGGTGGGCCAGCCGGCACCCAGCTAAAGACAACCCCGCCTCCCTTGCAGCTGTCTACAGCTACTACGCACAGAATGAGGTGGTGGCCACCGA... | benign | 118,175 |
Is the genetic mutation found on chromosome 7 at position 44144376, within the gene GCK (glucokinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTAGCTGGCTGGTAGAGTGCAGGAGCTCTTATCTGTCAGACCCAATACCCTTTTTATATAACAAGAGTTTTCTTTTAAATTTCTTAAATTCCCTTTTTTTTTTTTGAGACAGAGTCTCACTCTCGCACAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCCACCTCTGCCTCCCGGGTTCAAGCCATTCTTGTTCCTCAGCCTCCCAAGCAGCTGGGATTATAGGCATGTGCCACCACACCCAGCTAATTTTTATATATATTTTTTATTTTATTTTATTTTTAGTAAAGACGGGGTTTTATCATGTTGGCCAGCCG... | GTAGCTGGCTGGTAGAGTGCAGGAGCTCTTATCTGTCAGACCCAATACCCTTTTTATATAACAAGAGTTTTCTTTTAAATTTCTTAAATTCCCTTTTTTTTTTTTGAGACAGAGTCTCACTCTCGCACAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCCACCTCTGCCTCCCGGGTTCAAGCCATTCTTGTTCCTCAGCCTCCCAAGCAGCTGGGATTATAGGCATGTGCCACCACACCCAGCTAATTTTTATATATATTTTTTATTTTATTTTATTTTTAGTAAAGACGGGGTTTTATCATGTTGGCCAGCCG... | benign | 118,188 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 44145133, gene GCK (glucokinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Monogenic_diabetes'] | CAGGCTGATCTCGAACTCCTGACCTTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACC... | CAGGCTGATCTCGAACTCCTGACCTTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACC... | pathogenic | 118,195 |
Does the chromosome 7 mutation at position 44145141 within gene GCK (glucokinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Monogenic_diabetes'] | TCTCGAACTCCTGACCTTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATA... | TCTCGAACTCCTGACCTTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATA... | pathogenic | 118,199 |
Variant at chromosome 7, position 44145142, gene GCK (glucokinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Monogenic_diabetes'] | CTCGAACTCCTGACCTTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAG... | CTCGAACTCCTGACCTTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAG... | pathogenic | 118,200 |
Chromosome 7, position 44145155, gene GCK (glucokinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2'] | CCTTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATT... | CCTTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATT... | pathogenic | 118,202 |
Regarding the variant at chromosome 7 and position 44145157, affecting gene GCK (glucokinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Monogenic_diabetes'] | TTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAA... | TTTTGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAA... | pathogenic | 118,203 |
Evaluate the clinical significance of the mutation at chromosome 7, position 44145160 in gene GCK (glucokinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATAC... | TGATCCACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATAC... | pathogenic | 118,204 |
A mutation at chromosome position 44145165 on chromosome 7 in gene GCK (glucokinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hyperinsulinism_due_to_glucokinase_deficiency', 'Maturity-onset_diabetes_of_the_young_type_2', 'Monogenic_diabetes', 'Permanent_neonatal_diabetes_mellitus_1', 'Type_2_diabetes_mellitus'] | CACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGT... | CACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGT... | pathogenic | 118,205 |
The mutation impacting GCK (glucokinase) on chromosome 7 at position 44145165: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Monogenic_diabetes'] | CACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGT... | CACCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGT... | pathogenic | 118,206 |
Evaluate this variant at chromosome 7, position 44145170, gene GCK (glucokinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Monogenic_diabetes'] | GCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGA... | GCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGA... | pathogenic | 118,208 |
Is the variant located on chromosome 7 at position 44145171, gene GCK (glucokinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Monogenic_diabetes'] | CTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAA... | CTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAA... | pathogenic | 118,209 |
Variant on chromosome 7, at position 44145173, affecting GCK (glucokinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACT... | TTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACT... | pathogenic | 118,212 |
Chromosome 7, position 44145182, gene GCK (glucokinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Monogenic_diabetes'] | CAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAA... | CAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAA... | pathogenic | 118,217 |
Considering the variant on chromosome 7, location 44145185, involving gene GCK (glucokinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Monogenic_diabetes'] | AGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGG... | AGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGG... | pathogenic | 118,218 |
A genetic variant at chromosome 7, position 44145186, affecting gene GCK (glucokinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Monogenic_diabetes'] | GTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGA... | GTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGA... | pathogenic | 118,219 |
The genetic variant at chromosome 7, position 44145188, affecting gene GCK (glucokinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Monogenic_diabetes'] | GCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGA... | GCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGA... | pathogenic | 118,220 |
Mutation found at chromosome 7 position 44145189, gene GCK (glucokinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Monogenic_diabetes'] | CTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAA... | CTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAA... | pathogenic | 118,223 |
A genetic variant at chromosome 7, position 44145190, affecting gene GCK (glucokinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Monogenic_diabetes'] | TGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAA... | TGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAA... | pathogenic | 118,224 |
Considering the genetic mutation at chromosome 7, position 44145194, impacting GCK (glucokinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Monogenic_diabetes'] | ATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGA... | ATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGA... | pathogenic | 118,225 |
Variant at chromosome position 44145194, chromosome 7, gene GCK (glucokinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Monogenic_diabetes'] | ATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGA... | ATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGA... | pathogenic | 118,228 |
Does the chromosome 7 mutation at position 44145201 within gene GCK (glucokinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | GCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAAT... | GCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAAT... | pathogenic | 118,230 |
Located at chromosome 7 position 44145202, the variant affecting gene GCK (glucokinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Monogenic_diabetes'] | CATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATT... | CATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATT... | pathogenic | 118,231 |
Is the chromosome 7, position 44145210 variant in GCK (glucokinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Monogenic_diabetes'] | ACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAA... | ACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAA... | pathogenic | 118,233 |
Clinically, how would you classify the variant at chromosome 7, position 44145214, gene GCK (glucokinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2'] | CGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATG... | CGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATG... | pathogenic | 118,236 |
A genetic variant at chromosome 7, position 44145223, affecting gene GCK (glucokinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2'] | GTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACT... | GTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACT... | pathogenic | 118,239 |
Clinical classification of chromosome 7, position 44145224, gene GCK (glucokinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Monogenic_diabetes', 'likely other unspecified diseases'] | TGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTC... | TGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTC... | pathogenic | 118,241 |
A mutation at chromosome position 44145227 on chromosome 7 in gene GCK (glucokinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2'] | CCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGT... | CCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGT... | pathogenic | 118,242 |
Mutation found at chromosome 7 position 44145228, gene GCK (glucokinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2'] | CCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTG... | CCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTG... | pathogenic | 118,245 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 44145233, gene GCK (glucokinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2'] | GCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGC... | GCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGC... | pathogenic | 118,247 |
Evaluate this variant at chromosome 7, position 44145237, gene GCK (glucokinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | CACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGA... | CACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGA... | pathogenic | 118,248 |
Does the variant on chromosome 7 at location 44145249 affecting gene GCK (glucokinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAA... | TTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAA... | pathogenic | 118,250 |
Classify the chromosome 7 variant at position 44145250 affecting gene GCK (glucokinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | TTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAAT... | TTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAAT... | pathogenic | 118,251 |
Chromosome 7, position 44145254, gene GCK (glucokinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Monogenic_diabetes'] | GAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATA... | GAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATA... | pathogenic | 118,252 |
Variant at chromosome position 44145261, chromosome 7, gene GCK (glucokinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Monogenic_diabetes'] | GGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAAT... | GGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAAT... | pathogenic | 118,253 |
Regarding the variant found on chromosome 7 at position 44145269 in gene GCK (glucokinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGAT... | TATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGAT... | pathogenic | 118,256 |
Regarding the variant at chromosome 7 and position 44145272, affecting gene GCK (glucokinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Monogenic_diabetes'] | GTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCT... | GTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCT... | pathogenic | 118,257 |
Does the variant on chromosome 7 at location 44145276 affecting gene GCK (glucokinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Monogenic_diabetes'] | CCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCA... | CCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCA... | pathogenic | 118,259 |
Evaluate this variant at chromosome 7, position 44145277, gene GCK (glucokinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2'] | CCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCAC... | CCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCAC... | pathogenic | 118,260 |
Gene mutation in GCK (glucokinase) at chromosome 7, position 44145562—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | ACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGC... | ACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGC... | pathogenic | 118,285 |
Does the variant on chromosome 7 at location 44145578 affecting gene GCK (glucokinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Monogenic_diabetes'] | AATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAG... | AATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAG... | pathogenic | 118,290 |
Does the variant on chromosome 7 at location 44145580 affecting gene GCK (glucokinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Monogenic_diabetes'] | TAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCA... | TAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCA... | pathogenic | 118,291 |
Variant in GCK (glucokinase), chromosome 7, position 44145586—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGA... | GATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGA... | pathogenic | 118,293 |
Evaluate if the mutation on chromosome 7 at position 44145593 in GCK (glucokinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCT... | GCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCT... | pathogenic | 118,300 |
Chromosome 7, position 44145594, gene GCK (glucokinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Monogenic_diabetes'] | CACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTT... | CACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTT... | pathogenic | 118,302 |
For chromosome 7, position 44145594, gene GCK (glucokinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hyperinsulinism_due_to_glucokinase_deficiency', 'Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young', 'Permanent_neonatal_diabetes_mellitus_1', 'Type_2_diabetes_mellitus'] | CACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTT... | CACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTT... | pathogenic | 118,303 |
Does the genetic variant at chromosome 7, position 44145600, impacting gene GCK (glucokinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | CTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAAT... | CTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAAT... | pathogenic | 118,304 |
Classify the chromosome 7 variant at position 44145601 affecting gene GCK (glucokinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATC... | TTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATC... | pathogenic | 118,305 |
Evaluate if the mutation on chromosome 7 at position 44145605 in GCK (glucokinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Monogenic_diabetes'] | AAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAAC... | AAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAAC... | pathogenic | 118,313 |
Variant at chromosome 7, position 44145607, gene GCK (glucokinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACAT... | GGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACAT... | pathogenic | 118,316 |
Benign or pathogenic: chromosome 7, position 44145616, gene GCK (glucokinase) variant? Disease(s) if pathogenic? | pathogenic; ['Monogenic_diabetes'] | TAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGG... | TAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGG... | pathogenic | 118,325 |
Determine whether the variant at chromosome 7, position 44145666, in gene GCK (glucokinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Monogenic_diabetes'] | CAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCT... | CAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCT... | pathogenic | 118,347 |
Considering the genetic mutation at chromosome 7, position 44145695, impacting GCK (glucokinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | GACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCA... | GACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCA... | pathogenic | 118,350 |
Assess the variant on chromosome 7, position 44145710, impacting GCK (glucokinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Monogenic_diabetes'] | CAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCC... | CAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCC... | pathogenic | 118,352 |
Gene GCK (glucokinase) variant at chromosome position 44145715 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | TTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGC... | TTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGC... | pathogenic | 118,353 |
Does the chromosome 7 mutation at position 44146187 within gene GCK (glucokinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCC... | GCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCC... | benign | 118,359 |
Variant at chromosome position 44146478, chromosome 7, gene GCK (glucokinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | GGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGA... | GGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGA... | pathogenic | 118,369 |
Does the variant impacting GCK (glucokinase) on chromosome 7, position 44147634, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCT... | GCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCT... | benign | 118,394 |
Evaluate the clinical significance of the mutation at chromosome 7, position 44149757 in gene GCK (glucokinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | CTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTC... | CTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTC... | pathogenic | 118,447 |
Variant at chromosome 7, position 44149758, gene GCK (glucokinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | TCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCC... | TCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCC... | pathogenic | 118,448 |
Is the chromosome 7, position 44149772 variant in GCK (glucokinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | pathogenic | 118,455 |
Clinical classification of chromosome 7, position 44149797, gene GCK (glucokinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | GTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGT... | GTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGT... | pathogenic | 118,465 |
Located at chromosome 7 position 44149801, the variant affecting gene GCK (glucokinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | TGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACC... | TGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACC... | pathogenic | 118,466 |
A mutation at chromosome position 44149811 on chromosome 7 in gene GCK (glucokinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Monogenic_diabetes'] | GCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTG... | GCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTG... | pathogenic | 118,472 |
A genetic variant at chromosome 7, position 44149964, affecting gene GCK (glucokinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGA... | TCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGA... | pathogenic | 118,487 |
Clinically, how would you classify the variant at chromosome 7, position 44149980, gene GCK (glucokinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Monogenic_diabetes'] | CTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGG... | CTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGG... | pathogenic | 118,491 |
Clinical classification of chromosome 7, position 44150030, gene GCK (glucokinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Monogenic_diabetes'] | GAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAAT... | GAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAAT... | pathogenic | 118,506 |
Gene GCK (glucokinase) variant at chromosome 7, position 44150062—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGAC... | GCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGAC... | pathogenic | 118,512 |
Is chromosome 7, position 44150939, gene GCK (glucokinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | GGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTG... | GGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTG... | pathogenic | 118,516 |
Clinical significance of chromosome 7, position 44150984, gene GCK (glucokinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Monogenic_diabetes'] | GTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAA... | GTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAA... | pathogenic | 118,529 |
Regarding the variant at chromosome 7 and position 44150987, affecting gene GCK (glucokinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | GATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGC... | GATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGC... | pathogenic | 118,532 |
Is the genetic mutation found on chromosome 7 at position 44150998, within the gene GCK (glucokinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATG... | GATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATG... | pathogenic | 118,537 |
Gene GCK (glucokinase) variant at chromosome position 44151007 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGA... | GGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGA... | pathogenic | 118,540 |
Classify the chromosome 7 variant at position 44151045 affecting gene GCK (glucokinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | TATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCT... | TATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCT... | pathogenic | 118,542 |
Is the genetic variant on chromosome 7, position 44152274, gene GCK (glucokinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Permanent_neonatal_diabetes_mellitus_1'] | GATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTG... | GATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTG... | pathogenic | 118,560 |
Clinical significance of chromosome 7, position 44152275, gene GCK (glucokinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | ATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGT... | ATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGT... | pathogenic | 118,561 |
Classify the chromosome 7 variant at position 44152300 affecting gene GCK (glucokinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTA... | TGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTA... | pathogenic | 118,566 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 44152338, gene GCK (glucokinase): what disease(s) if pathogenic? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2', 'Maturity_onset_diabetes_mellitus_in_young'] | TGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGA... | TGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGA... | pathogenic | 118,574 |
A genetic variant at chromosome 7, position 44152342, affecting gene GCK (glucokinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | CAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCT... | CAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCT... | pathogenic | 118,575 |
Regarding the variant found on chromosome 7 at position 44153360 in gene GCK (glucokinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATT... | GCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATT... | pathogenic | 118,604 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 44153368, gene GCK (glucokinase): what disease(s) if pathogenic? | pathogenic | GTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCA... | GTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCA... | pathogenic | 118,608 |
Clinically, how would you classify the variant at chromosome 7, position 44153412, gene GCK (glucokinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_2'] | AACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTA... | AACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTA... | pathogenic | 118,628 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 44159345, gene GCK (glucokinase): what disease(s) if pathogenic? | benign | CCTCATGCTGGGTGTCTGTGCAAACTTACAGGGCTTTCCCAAGCAGTGTAGGAAATGTGGTGGTACCTGGGGAGCCCTGAGAGCCTGGCGCCCCAGGTGTAGCCTCGGAAGAAGAGCACAGACAGAGCCTGTCCCTCCCCCTGGCAGCCTCTGGGAGGCAGCCCCAGCCAGCTTGCAGAGGTTTCTCTTGCTGACCTCACCCAAGAGGTCACAGGACACATAATCAGGGCCCACAGCCAAACGTACAACTTTTCTTGCCTGAGGACGCCCCCACACTCCCTGCAGGGCATCTGACCCTCATCTCTTCAGCAGATGCTCAC... | CCTCATGCTGGGTGTCTGTGCAAACTTACAGGGCTTTCCCAAGCAGTGTAGGAAATGTGGTGGTACCTGGGGAGCCCTGAGAGCCTGGCGCCCCAGGTGTAGCCTCGGAAGAAGAGCACAGACAGAGCCTGTCCCTCCCCCTGGCAGCCTCTGGGAGGCAGCCCCAGCCAGCTTGCAGAGGTTTCTCTTGCTGACCTCACCCAAGAGGTCACAGGACACATAATCAGGGCCCACAGCCAAACGTACAACTTTTCTTGCCTGAGGACGCCCCCACACTCCCTGCAGGGCATCTGACCCTCATCTCTTCAGCAGATGCTCAC... | benign | 118,647 |
The mutation in gene CCM2 at chromosome 7, position 45000368—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CCM2-related_disorder', 'Cerebral_cavernous_malformation_2'] | TGGAGGCTTCCCTTTTTTCACTATAAAGCTTACCCACTCCTCTGCCTGACATTGAGTCTCATCCAAATACAAATGATGGTGGCTGACTCCCTTGTTATAGCAAGCTAACAGCCTTTTTGCTTTTCTCATTTTATTGTCTTTATTCCCAGTTATCACCATCTGATCATTAGCCAGTGGACTTTTGCTTGAAGCATGAACCTGTGTATGCAAAGACAGGGCAAAGGTATTCTGATGGATAAGAACAGCCTGAGGAAGTCAGCACATCCAGAGTTAGGCTAAGAGAAGTTTTAGTAGTGTTGTTTACTGTATTATGGAGTGAT... | TGGAGGCTTCCCTTTTTTCACTATAAAGCTTACCCACTCCTCTGCCTGACATTGAGTCTCATCCAAATACAAATGATGGTGGCTGACTCCCTTGTTATAGCAAGCTAACAGCCTTTTTGCTTTTCTCATTTTATTGTCTTTATTCCCAGTTATCACCATCTGATCATTAGCCAGTGGACTTTTGCTTGAAGCATGAACCTGTGTATGCAAAGACAGGGCAAAGGTATTCTGATGGATAAGAACAGCCTGAGGAAGTCAGCACATCCAGAGTTAGGCTAAGAGAAGTTTTAGTAGTGTTGTTTACTGTATTATGGAGTGAT... | pathogenic | 118,734 |
Gene mutation in CCM2 (CCM2 scaffold protein) at chromosome 7, position 45038291—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cerebral_cavernous_malformation_2'] | TTTTTGTTTTCGTTTTTATTGAAAGAGCTTCCTGATTCCATGTCTGTTTTAGTGGGTGAATGGAATAAAAACCCAGCTATGAAAGGGTGAAATAAATAAAGGTAAGAAGGAAGCTGAGGAGCAGAAAGCTCAGCCTTGGCTGTCAGGAGGCAGCAGGGTCAGGAAAAATGTTGGGTTTTGCTCTTTGAGGATTTGTTTTATTTGGGGTGGCTTTTGTTTGCTTATTTACTTTTCCCGCTAATGCTGGAGAGCTGAGCATGATGGTGGTGGTGGGGAGGGGCTCATACAGGGCAGGGTCCAACCCCAGCCTCATTAGGGAG... | TTTTTGTTTTCGTTTTTATTGAAAGAGCTTCCTGATTCCATGTCTGTTTTAGTGGGTGAATGGAATAAAAACCCAGCTATGAAAGGGTGAAATAAATAAAGGTAAGAAGGAAGCTGAGGAGCAGAAAGCTCAGCCTTGGCTGTCAGGAGGCAGCAGGGTCAGGAAAAATGTTGGGTTTTGCTCTTTGAGGATTTGTTTTATTTGGGGTGGCTTTTGTTTGCTTATTTACTTTTCCCGCTAATGCTGGAGAGCTGAGCATGATGGTGGTGGTGGGGAGGGGCTCATACAGGGCAGGGTCCAACCCCAGCCTCATTAGGGAG... | pathogenic | 118,738 |
The chromosome 7, position 45038353 genetic variant in gene CCM2 (CCM2 scaffold protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | GAATAAAAACCCAGCTATGAAAGGGTGAAATAAATAAAGGTAAGAAGGAAGCTGAGGAGCAGAAAGCTCAGCCTTGGCTGTCAGGAGGCAGCAGGGTCAGGAAAAATGTTGGGTTTTGCTCTTTGAGGATTTGTTTTATTTGGGGTGGCTTTTGTTTGCTTATTTACTTTTCCCGCTAATGCTGGAGAGCTGAGCATGATGGTGGTGGTGGGGAGGGGCTCATACAGGGCAGGGTCCAACCCCAGCCTCATTAGGGAGGCAGCTGCAGGGCCTGCTGGGAGCCACTGGACGACCAATTTCTGCTTTTTTCAGGAGTGGTT... | GAATAAAAACCCAGCTATGAAAGGGTGAAATAAATAAAGGTAAGAAGGAAGCTGAGGAGCAGAAAGCTCAGCCTTGGCTGTCAGGAGGCAGCAGGGTCAGGAAAAATGTTGGGTTTTGCTCTTTGAGGATTTGTTTTATTTGGGGTGGCTTTTGTTTGCTTATTTACTTTTCCCGCTAATGCTGGAGAGCTGAGCATGATGGTGGTGGTGGGGAGGGGCTCATACAGGGCAGGGTCCAACCCCAGCCTCATTAGGGAGGCAGCTGCAGGGCCTGCTGGGAGCCACTGGACGACCAATTTCTGCTTTTTTCAGGAGTGGTT... | pathogenic | 118,740 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 45038385, gene CCM2 (CCM2 scaffold protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cerebral_cavernous_malformation_2'] | AATAAAGGTAAGAAGGAAGCTGAGGAGCAGAAAGCTCAGCCTTGGCTGTCAGGAGGCAGCAGGGTCAGGAAAAATGTTGGGTTTTGCTCTTTGAGGATTTGTTTTATTTGGGGTGGCTTTTGTTTGCTTATTTACTTTTCCCGCTAATGCTGGAGAGCTGAGCATGATGGTGGTGGTGGGGAGGGGCTCATACAGGGCAGGGTCCAACCCCAGCCTCATTAGGGAGGCAGCTGCAGGGCCTGCTGGGAGCCACTGGACGACCAATTTCTGCTTTTTTCAGGAGTGGTTACTGAATAGTGTAGTCCTTGGCTGCAATTGTC... | AATAAAGGTAAGAAGGAAGCTGAGGAGCAGAAAGCTCAGCCTTGGCTGTCAGGAGGCAGCAGGGTCAGGAAAAATGTTGGGTTTTGCTCTTTGAGGATTTGTTTTATTTGGGGTGGCTTTTGTTTGCTTATTTACTTTTCCCGCTAATGCTGGAGAGCTGAGCATGATGGTGGTGGTGGGGAGGGGCTCATACAGGGCAGGGTCCAACCCCAGCCTCATTAGGGAGGCAGCTGCAGGGCCTGCTGGGAGCCACTGGACGACCAATTTCTGCTTTTTTCAGGAGTGGTTACTGAATAGTGTAGTCCTTGGCTGCAATTGTC... | pathogenic | 118,742 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 45072768, gene CCM2 (CCM2 scaffold protein): what disease(s) if pathogenic? | pathogenic; ['Cerebral_cavernous_malformation_2'] | GGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAAATACCAAGAAAAAAAAAAAGGCTGTTGGAAACAGTGCGGCTTGTTGAGTACAATTTCTTCTTTTTACGGAGATAAGTCCCAGCCCTCTGCCCTTTCCCCAGTAACTCGCACATCTCAGTGAAGAGAGTAAATGGTGGAGAAGCCTGTGCTGGTGTGAGGGCTGCTCCTCAGTGCCTCCTTCTTCCCTTTCTTGCTGCTGGTGCCAGAGCCCTTTGTGGGCACTACACGCCTTGTGTTGGCCCAGCAGC... | GGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAAATACCAAGAAAAAAAAAAAGGCTGTTGGAAACAGTGCGGCTTGTTGAGTACAATTTCTTCTTTTTACGGAGATAAGTCCCAGCCCTCTGCCCTTTCCCCAGTAACTCGCACATCTCAGTGAAGAGAGTAAATGGTGGAGAAGCCTGTGCTGGTGTGAGGGCTGCTCCTCAGTGCCTCCTTCTTCCCTTTCTTGCTGCTGGTGCCAGAGCCCTTTGTGGGCACTACACGCCTTGTGTTGGCCCAGCAGC... | pathogenic | 118,767 |
A genetic alteration at chromosome 7, position 45073447, in gene CCM2 (CCM2 scaffold protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGGGCTTCTTCCCCTGCCAGCCTTTCCCAAGACCTCCCCGTGGGATCCACACACAGATGTGCACACGTTACGCACATGCATGCATTCTCTGCTTATTTCTGCCTTGGAGTTTTGCTTGCTGTGTTCTCTCTACTACAGCTATGCCAAAACATAGCAGCATAAACAGCAGAAATATATTCTCTTATAATTCTATACGTTAAGAGTCCATTGTGGGTCCCACTGGGCTAAAGTTGAGGTGTCCACAGGGCTGGTTCCTTCTGGAGGCTCCAGAGAAGAAGCCATTTCCTTGTCTTTCCAGCTCCTAAAGGCGGCTGCATGCC... | TGGGCTTCTTCCCCTGCCAGCCTTTCCCAAGACCTCCCCGTGGGATCCACACACAGATGTGCACACGTTACGCACATGCATGCATTCTCTGCTTATTTCTGCCTTGGAGTTTTGCTTGCTGTGTTCTCTCTACTACAGCTATGCCAAAACATAGCAGCATAAACAGCAGAAATATATTCTCTTATAATTCTATACGTTAAGAGTCCATTGTGGGTCCCACTGGGCTAAAGTTGAGGTGTCCACAGGGCTGGTTCCTTCTGGAGGCTCCAGAGAAGAAGCCATTTCCTTGTCTTTCCAGCTCCTAAAGGCGGCTGCATGCC... | benign | 118,768 |
Considering the genetic mutation at chromosome 7, position 45075954, impacting CCM2 (CCM2 scaffold protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cerebral_cavernous_malformation_2'] | TTGCAAACTCAAGTCTTCCTGATTTGCCTGTGTGCCTGTGTGTAGCCTAAGGGCACAGGCATTGGCCCCGGGCCAGGTTGCCAACTTCCACCCTGCCCTGCTGGCTCCTGTCCCTCCCATGCACTCTGTGTTCCAGCTCAGGAGAGTGGAGCTGCCCGGGTGCCTTGGTCTCCTCTGGGTGGCCCCGTGCCAGGTCTGGTAGGATGGGGACACATTGTGGTCATTCTGATGCCCCAGCCTGTGCAGAGGTGAAGCCAGAGACAGCTGGTGCTCTGGCTGGGGTTAGTGGCTGTGGCAAGGTGGGCCCGACTGCCGACTCT... | TTGCAAACTCAAGTCTTCCTGATTTGCCTGTGTGCCTGTGTGTAGCCTAAGGGCACAGGCATTGGCCCCGGGCCAGGTTGCCAACTTCCACCCTGCCCTGCTGGCTCCTGTCCCTCCCATGCACTCTGTGTTCCAGCTCAGGAGAGTGGAGCTGCCCGGGTGCCTTGGTCTCCTCTGGGTGGCCCCGTGCCAGGTCTGGTAGGATGGGGACACATTGTGGTCATTCTGATGCCCCAGCCTGTGCAGAGGTGAAGCCAGAGACAGCTGGTGCTCTGGCTGGGGTTAGTGGCTGTGGCAAGGTGGGCCCGACTGCCGACTCT... | pathogenic | 118,782 |
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