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 |
|---|---|---|---|---|---|
Clinical classification of chromosome 18, position 57573344, gene FECH (ferrochelatase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic | GTACATATGAAGCATTTAGCATCTACTACTCTTTTGAATTTCATAACTACTTCGAAAGAACTAATCTAGTTACATGTTAATGAAGAAACACCATACCTGTGTTGGGGGACAATTCATCCAGCAGCTTCACCATGCCCTCTCCCTGCTTGGAAGTCCATATCTTGATGGGGGATCCGCCTCCAATCCTGCGGTACTGCTCTTGAATCTTGGGGGTTCGGCGTTTGGCGATGAATGGTGCCAGCTTACTAAATCATTTAACATACAGGTAAGTGGATTTTATTCCAGCTTAGCAACCTGAGAAATGTTTTCTACTCAATAAA... | GTACATATGAAGCATTTAGCATCTACTACTCTTTTGAATTTCATAACTACTTCGAAAGAACTAATCTAGTTACATGTTAATGAAGAAACACCATACCTGTGTTGGGGGACAATTCATCCAGCAGCTTCACCATGCCCTCTCCCTGCTTGGAAGTCCATATCTTGATGGGGGATCCGCCTCCAATCCTGCGGTACTGCTCTTGAATCTTGGGGGTTCGGCGTTTGGCGATGAATGGTGCCAGCTTACTAAATCATTTAACATACAGGTAAGTGGATTTTATTCCAGCTTAGCAACCTGAGAAATGTTTTCTACTCAATAAA... | pathogenic | 291,298 |
Gene FECH (ferrochelatase) variant at chromosome position 57573354 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Protoporphyria,_erythropoietic,_1'] | AGCATTTAGCATCTACTACTCTTTTGAATTTCATAACTACTTCGAAAGAACTAATCTAGTTACATGTTAATGAAGAAACACCATACCTGTGTTGGGGGACAATTCATCCAGCAGCTTCACCATGCCCTCTCCCTGCTTGGAAGTCCATATCTTGATGGGGGATCCGCCTCCAATCCTGCGGTACTGCTCTTGAATCTTGGGGGTTCGGCGTTTGGCGATGAATGGTGCCAGCTTACTAAATCATTTAACATACAGGTAAGTGGATTTTATTCCAGCTTAGCAACCTGAGAAATGTTTTCTACTCAATAAAAAAGAAAAAA... | AGCATTTAGCATCTACTACTCTTTTGAATTTCATAACTACTTCGAAAGAACTAATCTAGTTACATGTTAATGAAGAAACACCATACCTGTGTTGGGGGACAATTCATCCAGCAGCTTCACCATGCCCTCTCCCTGCTTGGAAGTCCATATCTTGATGGGGGATCCGCCTCCAATCCTGCGGTACTGCTCTTGAATCTTGGGGGTTCGGCGTTTGGCGATGAATGGTGCCAGCTTACTAAATCATTTAACATACAGGTAAGTGGATTTTATTCCAGCTTAGCAACCTGAGAAATGTTTTCTACTCAATAAAAAAGAAAAAA... | pathogenic | 291,299 |
Is the genetic change at chromosome 18, position 57586580, within gene FECH benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Protoporphyria,_erythropoietic,_1'] | TGGATCCTTGTGGGCGAGGCAGAAGAGGGTGGGGGGCGAGATACACAAGTATTGAAATCTATAATGGCACTTTTCTATCACATAGGAGATGAGGATTACTTCAAAAGTACTTATAAAATATGCACCGTTTTTAAAATTAACAAAAGAAATAAGGTTCTATATTATAACTATTAATAAACATAGTGGGTGCTTCAAAATATTGGTTAGTTGCTGATATGGAGCCAAAATGTTCTAATGTCTCTTATGTAAACCCTACAACTCTTTTATTATCCTAGAATTGTTTTTCTAATTACATAAGACAATATATGCTCAGTGAAAAA... | TGGATCCTTGTGGGCGAGGCAGAAGAGGGTGGGGGGCGAGATACACAAGTATTGAAATCTATAATGGCACTTTTCTATCACATAGGAGATGAGGATTACTTCAAAAGTACTTATAAAATATGCACCGTTTTTAAAATTAACAAAAGAAATAAGGTTCTATATTATAACTATTAATAAACATAGTGGGTGCTTCAAAATATTGGTTAGTTGCTGATATGGAGCCAAAATGTTCTAATGTCTCTTATGTAAACCCTACAACTCTTTTATTATCCTAGAATTGTTTTTCTAATTACATAAGACAATATATGCTCAGTGAAAAA... | pathogenic | 291,306 |
Gene ATP8B1 variant at chromosome position 57655280 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_1', 'Progressive_familial_intrahepatic_cholestasis'] | TATTGTGGAGACATATTGGACTCTCGGGTGCCTTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCACTTTGTTGCCCAGCCCGGAGTGCAGTGGCACAAACACAACTCACTGCAGCTTCAACCTTCCAGGCTCAAGCGATCCTCCCACCTCATCCTGCCAAGTAGCTGGGACTTCACAGGTGTGCACTACCATGCCCACAATTTTTAAATTTTTCTGTAGAGATGGGGTCTCCCTATGTTGCCAGGGCTGGTCTCAAACTCCTGACCTGAAGCAATTTGCCTGCCTCAGCCTCCTAAAGTG... | TATTGTGGAGACATATTGGACTCTCGGGTGCCTTTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCACTTTGTTGCCCAGCCCGGAGTGCAGTGGCACAAACACAACTCACTGCAGCTTCAACCTTCCAGGCTCAAGCGATCCTCCCACCTCATCCTGCCAAGTAGCTGGGACTTCACAGGTGTGCACTACCATGCCCACAATTTTTAAATTTTTCTGTAGAGATGGGGTCTCCCTATGTTGCCAGGGCTGGTCTCAAACTCCTGACCTGAAGCAATTTGCCTGCCTCAGCCTCCTAAAGTG... | pathogenic | 291,348 |
Is the variant located on chromosome 18 at position 57668554, gene ATP8B1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | benign | 291,367 |
Evaluate the clinical significance of the mutation at chromosome 18, position 57668554 in gene ATP8B1: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | benign | 291,368 |
Is the genetic change at chromosome 18, position 57668554, within gene ATP8B1 benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | benign | 291,369 |
Variant in gene ATP8B1, located at chromosome 18 position 57668554: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | benign | 291,370 |
A mutation at chromosome position 57668554 on chromosome 18 in gene ATP8B1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | TTACGGAATTTTTAGTAGGTGAACCGAGTTTTTTTTTTTTTTTTAATGAGACAGAGTTTCACTCTTGTCACCTAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATAACAGGCACCGGGCACCACACCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTAGAACTCCTGACTTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACT... | benign | 291,371 |
Is the genetic change at chromosome 18, position 57684076, within gene ATP8B1 (ATPase phospholipid transporting 8B1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_1', 'Cholestasis,_intrahepatic,_of_pregnancy,_1', 'Progressive_familial_intrahepatic_cholestasis', 'Progressive_familial_intrahepatic_cholestasis_type_1'] | GGAGTCTTGCACTGTTGCCCAGGCTGTAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTGCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACATGCCACCATGCTTGGCTAATGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGCGCCCAGCCCTGCTGGAAGGAACTTTGTACATCCAACCTTCTTACTACAACAC... | GGAGTCTTGCACTGTTGCCCAGGCTGTAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTGCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACATGCCACCATGCTTGGCTAATGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGCGCCCAGCCCTGCTGGAAGGAACTTTGTACATCCAACCTTCTTACTACAACAC... | pathogenic | 291,391 |
Considering the genetic mutation at chromosome 18, position 57685238, impacting ATP8B1 (ATPase phospholipid transporting 8B1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CATTAAGGTTGAGAAAAGAGAGGGACTTATGTATGCCGCACTGACTGAAGTAAAAAGTGGAAGATGTAGTGAAGTGGATGAAGTGAGGGAATGAAGTGAAGGCAGACTACGCTTTATTACAGAAACACCAAAAGAACTCCTTTTGCTCTTTCTATAAAGTGCATGTGTGTCTATATAATTTATCATTATGTCCATTTGTGATAAAATGACTAGCTTTCCTTGATACAGGACAAACTTGCTGTGACAAAGCTGGCACAAACTGCATCGAAGGATTCTGCAAAGGAACCTACAAGCCATTCTGGCTTGTTCCCATGAAATTC... | CATTAAGGTTGAGAAAAGAGAGGGACTTATGTATGCCGCACTGACTGAAGTAAAAAGTGGAAGATGTAGTGAAGTGGATGAAGTGAGGGAATGAAGTGAAGGCAGACTACGCTTTATTACAGAAACACCAAAAGAACTCCTTTTGCTCTTTCTATAAAGTGCATGTGTGTCTATATAATTTATCATTATGTCCATTTGTGATAAAATGACTAGCTTTCCTTGATACAGGACAAACTTGCTGTGACAAAGCTGGCACAAACTGCATCGAAGGATTCTGCAAAGGAACCTACAAGCCATTCTGGCTTGTTCCCATGAAATTC... | benign | 291,396 |
Gene ATP8B1 (ATPase phospholipid transporting 8B1) variant at chromosome position 57688480 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_1'] | GCTCAGGTGATCCTACCTCAGCCTCTCAAGTAACTGGAACTACAGGCACACACAATTTTGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTAGAGGCATCCACCACCACGCCCAGGTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTCGAACTCCTGAGCTTGTGATCCACCCACGTAGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCAGAGATGGGGTTTTGTCATGTTGCCCAGGCTGG... | GCTCAGGTGATCCTACCTCAGCCTCTCAAGTAACTGGAACTACAGGCACACACAATTTTGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTAGAGGCATCCACCACCACGCCCAGGTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTCGAACTCCTGAGCTTGTGATCCACCCACGTAGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCAGAGATGGGGTTTTGTCATGTTGCCCAGGCTGG... | pathogenic | 291,402 |
The mutation in gene ATP8B1 (ATPase phospholipid transporting 8B1) at chromosome 18, position 57691813—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_1', 'Progressive_familial_intrahepatic_cholestasis'] | TCCAACACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTGGCATGTACTTGTAATTCCAGCCACTAAGGAGGCTGAGGCAGGGGACTCACTTGAACCCAGCAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCGACTGCACTCCAGCCTGGGAAACAGAGCAAGACTCTGTCTCAAAACAAAACAAACAAACAACAAACAAACAAACAAAAATCAAAGCAAAGCAAGGTAAGGAGATATGAAG... | TCCAACACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTGGCATGTACTTGTAATTCCAGCCACTAAGGAGGCTGAGGCAGGGGACTCACTTGAACCCAGCAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCGACTGCACTCCAGCCTGGGAAACAGAGCAAGACTCTGTCTCAAAACAAAACAAACAAACAACAAACAAACAAACAAAAATCAAAGCAAAGCAAGGTAAGGAGATATGAAG... | pathogenic | 291,405 |
A mutation at chromosome position 57697807 on chromosome 18 in gene ATP8B1 (ATPase phospholipid transporting 8B1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_1'] | TGTTGTGAAGGTTAGGACAGAGGTACCCACAAACATCCTTCTCATTAACTTTAACTTTACCATCAGCTAGGACTACCAAAGTGCTGTTTGAAAATGTAGTGTCTAATATTTAATCACATTAAAATGATTCTATAACACATATTTGTTACAGAAATTCTGTTTCGCCTCTGTCAAATTCTTTTCCAGAGTGAATAACTGGATCACATGTTTTTGAAAGACAATTTTATTTGGAAAAGGAAGTCTTAGCTTTACTCCCAACTGCCCCACCATAGTGCAAGGTAAGGTCGTGGGTGGGCACAAGGGCAGGCCGGGGCAGGTGC... | TGTTGTGAAGGTTAGGACAGAGGTACCCACAAACATCCTTCTCATTAACTTTAACTTTACCATCAGCTAGGACTACCAAAGTGCTGTTTGAAAATGTAGTGTCTAATATTTAATCACATTAAAATGATTCTATAACACATATTTGTTACAGAAATTCTGTTTCGCCTCTGTCAAATTCTTTTCCAGAGTGAATAACTGGATCACATGTTTTTGAAAGACAATTTTATTTGGAAAAGGAAGTCTTAGCTTTACTCCCAACTGCCCCACCATAGTGCAAGGTAAGGTCGTGGGTGGGCACAAGGGCAGGCCGGGGCAGGTGC... | pathogenic | 291,424 |
Clinically, how would you classify the variant at chromosome 18, position 57697830, gene ATP8B1 (ATPase phospholipid transporting 8B1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_1', 'Familial_intrahepatic_cholestasis_type_1', 'Progressive_familial_intrahepatic_cholestasis_type_1'] | TACCCACAAACATCCTTCTCATTAACTTTAACTTTACCATCAGCTAGGACTACCAAAGTGCTGTTTGAAAATGTAGTGTCTAATATTTAATCACATTAAAATGATTCTATAACACATATTTGTTACAGAAATTCTGTTTCGCCTCTGTCAAATTCTTTTCCAGAGTGAATAACTGGATCACATGTTTTTGAAAGACAATTTTATTTGGAAAAGGAAGTCTTAGCTTTACTCCCAACTGCCCCACCATAGTGCAAGGTAAGGTCGTGGGTGGGCACAAGGGCAGGCCGGGGCAGGTGCTCTCAAGGGTGAGGCTGCCGTCT... | TACCCACAAACATCCTTCTCATTAACTTTAACTTTACCATCAGCTAGGACTACCAAAGTGCTGTTTGAAAATGTAGTGTCTAATATTTAATCACATTAAAATGATTCTATAACACATATTTGTTACAGAAATTCTGTTTCGCCTCTGTCAAATTCTTTTCCAGAGTGAATAACTGGATCACATGTTTTTGAAAGACAATTTTATTTGGAAAAGGAAGTCTTAGCTTTACTCCCAACTGCCCCACCATAGTGCAAGGTAAGGTCGTGGGTGGGCACAAGGGCAGGCCGGGGCAGGTGCTCTCAAGGGTGAGGCTGCCGTCT... | pathogenic | 291,425 |
For chromosome 18, position 57706556, gene ATP8B1 (ATPase phospholipid transporting 8B1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['ATP8B1-related_disorder', 'Benign_recurrent_intrahepatic_cholestasis_type_1'] | TCGAGTCACTATAATTCAAACAGATTTAAGATAGCAAAGGGCATTACCTGTAAGATAAGAAGAGCCAGGAAATATAAATTGGCTGCTCTCTTAAACTGCTCAAACAGATTCATTGGTATAAAGGTAAATGCGTTGTACTTGTATGTTTTAATTGCATTATTCTGTTGGAAAAAATAAGAGTCATTCTAAATGATGCTGTATTTATCACAATGTATACACATCTGCAAAAGTCACAAGTCCCACAGCTTACAGTGACAAAGGAACATCATCTGTCAGAAAGATATTGAGGATTTTGTCTGGGTGCGGTGGCTTATGCCTGC... | TCGAGTCACTATAATTCAAACAGATTTAAGATAGCAAAGGGCATTACCTGTAAGATAAGAAGAGCCAGGAAATATAAATTGGCTGCTCTCTTAAACTGCTCAAACAGATTCATTGGTATAAAGGTAAATGCGTTGTACTTGTATGTTTTAATTGCATTATTCTGTTGGAAAAAATAAGAGTCATTCTAAATGATGCTGTATTTATCACAATGTATACACATCTGCAAAAGTCACAAGTCCCACAGCTTACAGTGACAAAGGAACATCATCTGTCAGAAAGATATTGAGGATTTTGTCTGGGTGCGGTGGCTTATGCCTGC... | pathogenic | 291,433 |
Does the chromosome 18 mutation at position 58329090 within gene NEDD4L (NEDD4 like E3 ubiquitin protein ligase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ACTAAAACAAAAGGTATAACTTGCTGGCTCTTCACTAGTCTAGAGCAACAAGGGAAAAATGCAGTTCTTTTTCTGTTGTTGTTTGAGACAGAGTCTCACTCTGTCACCCACAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCGCCATGCCCAGCTAATGTTTGTATTTTTGTGAAGATGGGGTTTCACTGGCTTGGTCAAGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGT... | ACTAAAACAAAAGGTATAACTTGCTGGCTCTTCACTAGTCTAGAGCAACAAGGGAAAAATGCAGTTCTTTTTCTGTTGTTGTTTGAGACAGAGTCTCACTCTGTCACCCACAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCGCCATGCCCAGCTAATGTTTGTATTTTTGTGAAGATGGGGTTTCACTGGCTTGGTCAAGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGT... | benign | 291,492 |
Clinical significance of chromosome 18, position 58387418, gene NEDD4L (NEDD4 like E3 ubiquitin protein ligase): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGAAGCCATGAATAAACTAAACAGTGGGGGCACAGAGGAGACCCTCCCCTCTGCTCTGCTGTCGTGGATGGAGGAGAAGCACTCCCTGTTGCGGAGAAAGCAGTGAGCACTAGTGATGATGGAGGTGGTTCAATATTGTCCTCTTTTCTCCTGCAGCTTAGTCATCCAGTGGAGATTTGTGAACAGGGTCCAGAAGCAGATGAACGCCTTCTTGGAGGTAAGCCATGCTGGCCAGGGTTCTCTGCCATGTGCCTCTGGTCCCGGGTCGATGGGGGATCGCGCTTCTCCTTTAGCTAGTGTGGTGGAGCTGATCAGAGACA... | AGAAGCCATGAATAAACTAAACAGTGGGGGCACAGAGGAGACCCTCCCCTCTGCTCTGCTGTCGTGGATGGAGGAGAAGCACTCCCTGTTGCGGAGAAAGCAGTGAGCACTAGTGATGATGGAGGTGGTTCAATATTGTCCTCTTTTCTCCTGCAGCTTAGTCATCCAGTGGAGATTTGTGAACAGGGTCCAGAAGCAGATGAACGCCTTCTTGGAGGTAAGCCATGCTGGCCAGGGTTCTCTGCCATGTGCCTCTGGTCCCGGGTCGATGGGGGATCGCGCTTCTCCTTTAGCTAGTGTGGTGGAGCTGATCAGAGACA... | benign | 291,538 |
Variant at chromosome position 58387419, chromosome 18, gene NEDD4L (NEDD4 like E3 ubiquitin protein ligase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GAAGCCATGAATAAACTAAACAGTGGGGGCACAGAGGAGACCCTCCCCTCTGCTCTGCTGTCGTGGATGGAGGAGAAGCACTCCCTGTTGCGGAGAAAGCAGTGAGCACTAGTGATGATGGAGGTGGTTCAATATTGTCCTCTTTTCTCCTGCAGCTTAGTCATCCAGTGGAGATTTGTGAACAGGGTCCAGAAGCAGATGAACGCCTTCTTGGAGGTAAGCCATGCTGGCCAGGGTTCTCTGCCATGTGCCTCTGGTCCCGGGTCGATGGGGGATCGCGCTTCTCCTTTAGCTAGTGTGGTGGAGCTGATCAGAGACAG... | GAAGCCATGAATAAACTAAACAGTGGGGGCACAGAGGAGACCCTCCCCTCTGCTCTGCTGTCGTGGATGGAGGAGAAGCACTCCCTGTTGCGGAGAAAGCAGTGAGCACTAGTGATGATGGAGGTGGTTCAATATTGTCCTCTTTTCTCCTGCAGCTTAGTCATCCAGTGGAGATTTGTGAACAGGGTCCAGAAGCAGATGAACGCCTTCTTGGAGGTAAGCCATGCTGGCCAGGGTTCTCTGCCATGTGCCTCTGGTCCCGGGTCGATGGGGGATCGCGCTTCTCCTTTAGCTAGTGTGGTGGAGCTGATCAGAGACAG... | benign | 291,539 |
Classify the chromosome 18 variant at position 58387419 affecting gene NEDD4L (NEDD4 like E3 ubiquitin protein ligase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GAAGCCATGAATAAACTAAACAGTGGGGGCACAGAGGAGACCCTCCCCTCTGCTCTGCTGTCGTGGATGGAGGAGAAGCACTCCCTGTTGCGGAGAAAGCAGTGAGCACTAGTGATGATGGAGGTGGTTCAATATTGTCCTCTTTTCTCCTGCAGCTTAGTCATCCAGTGGAGATTTGTGAACAGGGTCCAGAAGCAGATGAACGCCTTCTTGGAGGTAAGCCATGCTGGCCAGGGTTCTCTGCCATGTGCCTCTGGTCCCGGGTCGATGGGGGATCGCGCTTCTCCTTTAGCTAGTGTGGTGGAGCTGATCAGAGACAG... | GAAGCCATGAATAAACTAAACAGTGGGGGCACAGAGGAGACCCTCCCCTCTGCTCTGCTGTCGTGGATGGAGGAGAAGCACTCCCTGTTGCGGAGAAAGCAGTGAGCACTAGTGATGATGGAGGTGGTTCAATATTGTCCTCTTTTCTCCTGCAGCTTAGTCATCCAGTGGAGATTTGTGAACAGGGTCCAGAAGCAGATGAACGCCTTCTTGGAGGTAAGCCATGCTGGCCAGGGTTCTCTGCCATGTGCCTCTGGTCCCGGGTCGATGGGGGATCGCGCTTCTCCTTTAGCTAGTGTGGTGGAGCTGATCAGAGACAG... | benign | 291,540 |
The mutation impacting NEDD4L (NEDD4 like E3 ubiquitin protein ligase) on chromosome 18 at position 58387419: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GAAGCCATGAATAAACTAAACAGTGGGGGCACAGAGGAGACCCTCCCCTCTGCTCTGCTGTCGTGGATGGAGGAGAAGCACTCCCTGTTGCGGAGAAAGCAGTGAGCACTAGTGATGATGGAGGTGGTTCAATATTGTCCTCTTTTCTCCTGCAGCTTAGTCATCCAGTGGAGATTTGTGAACAGGGTCCAGAAGCAGATGAACGCCTTCTTGGAGGTAAGCCATGCTGGCCAGGGTTCTCTGCCATGTGCCTCTGGTCCCGGGTCGATGGGGGATCGCGCTTCTCCTTTAGCTAGTGTGGTGGAGCTGATCAGAGACAG... | GAAGCCATGAATAAACTAAACAGTGGGGGCACAGAGGAGACCCTCCCCTCTGCTCTGCTGTCGTGGATGGAGGAGAAGCACTCCCTGTTGCGGAGAAAGCAGTGAGCACTAGTGATGATGGAGGTGGTTCAATATTGTCCTCTTTTCTCCTGCAGCTTAGTCATCCAGTGGAGATTTGTGAACAGGGTCCAGAAGCAGATGAACGCCTTCTTGGAGGTAAGCCATGCTGGCCAGGGTTCTCTGCCATGTGCCTCTGGTCCCGGGTCGATGGGGGATCGCGCTTCTCCTTTAGCTAGTGTGGTGGAGCTGATCAGAGACAG... | benign | 291,541 |
Evaluate the clinical significance of the mutation at chromosome 18, position 59354506 in gene LMAN1 (lectin, mannose binding 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GGTTAAACTACAGGAAGCTGTGCAAGGCCTGTTACTGCCCTTTCAACCTCACTGCTCACTGATCTCTTCTATCTCCCAGCCACACCAAACTACATGCCTTTCCAAAATATTTCAAGCTCTCTCAAGGGCCTATGCCTGCTTTCTGTGCTTGGAGTACACCCACTCACTCGCACACACACACACCCTCTTCCCCCAACTCCCAGGAACTTCCTGATCTCCCTGTAGGGCACAGCTCAACTCTGAGAAAATGTTCCTGCCCTTCCCCACCTCCACCTGGCAGTTACAGGATTCTAACCACAGGACCGCTTGATAGTGTCTGC... | GGTTAAACTACAGGAAGCTGTGCAAGGCCTGTTACTGCCCTTTCAACCTCACTGCTCACTGATCTCTTCTATCTCCCAGCCACACCAAACTACATGCCTTTCCAAAATATTTCAAGCTCTCTCAAGGGCCTATGCCTGCTTTCTGTGCTTGGAGTACACCCACTCACTCGCACACACACACACCCTCTTCCCCCAACTCCCAGGAACTTCCTGATCTCCCTGTAGGGCACAGCTCAACTCTGAGAAAATGTTCCTGCCCTTCCCCACCTCCACCTGGCAGTTACAGGATTCTAACCACAGGACCGCTTGATAGTGTCTGC... | benign | 291,622 |
A genetic alteration at chromosome 18, position 60371513, in gene MC4R (melanocortin 4 receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['BODY_MASS_INDEX_QUANTITATIVE_TRAIT_LOCUS_20', 'MC4R-related_disorder', 'Obesity', 'Obesity_due_to_melanocortin_4_receptor_deficiency'] | GTACCATGGCATATAGGGGAGGGTGCTGTTATATGGCTCGTTCATGAATTATACACACCCTAACACTGTAAACCACTCCAGGAGAAGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATT... | GTACCATGGCATATAGGGGAGGGTGCTGTTATATGGCTCGTTCATGAATTATACACACCCTAACACTGTAAACCACTCCAGGAGAAGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATT... | pathogenic | 291,696 |
Variant in MC4R (melanocortin 4 receptor), chromosome 18, position 60371598—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['BODY_MASS_INDEX_QUANTITATIVE_TRAIT_LOCUS_20', 'MC4R-related_disorder', 'Obesity', 'Obesity,_autosomal_dominant'] | AGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTT... | AGGTATGAACCTGAAGAAGGAGGAGCCAGGATCTGAGATGGCACTTGGAGGAGAAATAGGATAAACTGGGAAGGGCAGCCACCACAGAAGATGGGGTGTGCTCATAGCTCTCTTTTTCATATCTCTAGTCCCTGGGATTTTTCAGATTCATGAAATGAAAGAATGGACAGGAAACGTAGCAATGAAAAAAACATAACTGTGTCCCTCTACTGCTATAGACTATGATTGTTAGATTAGTGTATATTTAAATCCTCACATTCACTTTTGCTTCAAAATAGAGGAATTGCAGTGGAATTAAAATTTCAGCTTTAGTACCACTT... | pathogenic | 291,699 |
Classify the chromosome 18 variant at position 60371931 affecting gene MC4R (melanocortin 4 receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['MC4R-related_disorder'] | TTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCT... | TTTAACTTCACTATTATCCTTTAAGGTAGTGTTTTCAGATGAATGTTGAAAGTGTTTCTTGGGTCTTATAATCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCT... | pathogenic | 291,707 |
Is the genetic change at chromosome 18, position 60372002, within gene MC4R (melanocortin 4 receptor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Obesity_due_to_melanocortin_4_receptor_deficiency'] | TCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACA... | TCAGTGTAAAACATTTAGATTTGAGTTAAGGAGTACCTTTGCATATGACTTCTGCCCATGAGCATTTGAAGACCCTGTAAATCCTAAGATAGTTTACTGGTAATCCTCAACCTAATATATTCTTTTGCTTTATTTTAAATTACACACAGATTAGAAAGTACAGTACAAATTTTATTGCTCAGTGGCCAAATCTGTAGGATTATTTTGGAGCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGAAGGCTAGTTTATTGCATGACATCCTCTGGGGTTTGGTAGGTGCCTCCCTTCCTGCTTAAAATGTACCAGCATCACA... | pathogenic | 291,708 |
Evaluate this variant at chromosome 18, position 62072729, gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AATTTTGCTTTCTTCTTCTCAAAGAAAAGAAATTTAACAGGTTATGGCAATCATTGAAATTTAAATCACAATAAAAAGGAACCTGACTTTTTGTTCAGATTATACTTTATTTTTAATTAACTAATTAATTAATTTTTTTTTGATATGGGATATCACTCTGTGGCCCAGGCTGGAGTGCAGTGGCCCAGTCATGGCTCACTAAACTCTTTTGACCTCCCAGGCTCAAGCACTTTTTCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGGGCCACTGCACTCGGGTAATTTTTTTTTTGCTTTTTGTAGAAACAGG... | AATTTTGCTTTCTTCTTCTCAAAGAAAAGAAATTTAACAGGTTATGGCAATCATTGAAATTTAAATCACAATAAAAAGGAACCTGACTTTTTGTTCAGATTATACTTTATTTTTAATTAACTAATTAATTAATTTTTTTTTGATATGGGATATCACTCTGTGGCCCAGGCTGGAGTGCAGTGGCCCAGTCATGGCTCACTAAACTCTTTTGACCTCCCAGGCTCAAGCACTTTTTCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGGGCCACTGCACTCGGGTAATTTTTTTTTTGCTTTTTGTAGAAACAGG... | benign | 291,723 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 62072729, gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N): what disease(s) if pathogenic? | benign | AATTTTGCTTTCTTCTTCTCAAAGAAAAGAAATTTAACAGGTTATGGCAATCATTGAAATTTAAATCACAATAAAAAGGAACCTGACTTTTTGTTCAGATTATACTTTATTTTTAATTAACTAATTAATTAATTTTTTTTTGATATGGGATATCACTCTGTGGCCCAGGCTGGAGTGCAGTGGCCCAGTCATGGCTCACTAAACTCTTTTGACCTCCCAGGCTCAAGCACTTTTTCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGGGCCACTGCACTCGGGTAATTTTTTTTTTGCTTTTTGTAGAAACAGG... | AATTTTGCTTTCTTCTTCTCAAAGAAAAGAAATTTAACAGGTTATGGCAATCATTGAAATTTAAATCACAATAAAAAGGAACCTGACTTTTTGTTCAGATTATACTTTATTTTTAATTAACTAATTAATTAATTTTTTTTTGATATGGGATATCACTCTGTGGCCCAGGCTGGAGTGCAGTGGCCCAGTCATGGCTCACTAAACTCTTTTGACCTCCCAGGCTCAAGCACTTTTTCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGGGCCACTGCACTCGGGTAATTTTTTTTTTGCTTTTTGTAGAAACAGG... | benign | 291,724 |
The genetic variant at chromosome 18, position 62072729, affecting gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N): benign or pathogenic? Disease name(s) if pathogenic? | benign | AATTTTGCTTTCTTCTTCTCAAAGAAAAGAAATTTAACAGGTTATGGCAATCATTGAAATTTAAATCACAATAAAAAGGAACCTGACTTTTTGTTCAGATTATACTTTATTTTTAATTAACTAATTAATTAATTTTTTTTTGATATGGGATATCACTCTGTGGCCCAGGCTGGAGTGCAGTGGCCCAGTCATGGCTCACTAAACTCTTTTGACCTCCCAGGCTCAAGCACTTTTTCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGGGCCACTGCACTCGGGTAATTTTTTTTTTGCTTTTTGTAGAAACAGG... | AATTTTGCTTTCTTCTTCTCAAAGAAAAGAAATTTAACAGGTTATGGCAATCATTGAAATTTAAATCACAATAAAAAGGAACCTGACTTTTTGTTCAGATTATACTTTATTTTTAATTAACTAATTAATTAATTTTTTTTTGATATGGGATATCACTCTGTGGCCCAGGCTGGAGTGCAGTGGCCCAGTCATGGCTCACTAAACTCTTTTGACCTCCCAGGCTCAAGCACTTTTTCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGGGCCACTGCACTCGGGTAATTTTTTTTTTGCTTTTTGTAGAAACAGG... | benign | 291,725 |
Variant at chromosome 18, position 62074825, gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CTAAAAACAAAGCTATTTTAGGACTGTATGTTTCAGATTTCTGACTCTAAGAATCACTATCTGACTGTAATCAACAAGAATATGTCATTTACTGAAACTTTTGCTTGGATTAGAATTAGCAGTAGTCTAAAATCCAGAAATAGAATTATCAATCAAATGAACACAAAAGTGACATTTCTGAATAATTAGAAATAAAGAAGAACAAGCCAACATCAATAAAAAAAACTAGATAATACTAAAGATGTCAGTGGAAAGAAGCCACGTCATCCATCTACCAACAAATATTTACTGTACTGACTACCTACTGTGTGCCGATCACT... | CTAAAAACAAAGCTATTTTAGGACTGTATGTTTCAGATTTCTGACTCTAAGAATCACTATCTGACTGTAATCAACAAGAATATGTCATTTACTGAAACTTTTGCTTGGATTAGAATTAGCAGTAGTCTAAAATCCAGAAATAGAATTATCAATCAAATGAACACAAAAGTGACATTTCTGAATAATTAGAAATAAAGAAGAACAAGCCAACATCAATAAAAAAAACTAGATAATACTAAAGATGTCAGTGGAAAGAAGCCACGTCATCCATCTACCAACAAATATTTACTGTACTGACTACCTACTGTGTGCCGATCACT... | benign | 291,729 |
Clinical classification of chromosome 18, position 62102821, gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | TAAGATCCTCTTCACCCTTATCTCTTTTGGAATCACTTAGTCAAATCTTATGAGATGTTAATAAATACATAGCTTTATTATCAGCTCATAAATATTCTATCAAATTATCTTGTTAACACATGCATGAACATAAAAATTCTCTTTGTTAAATTCCAGCAAGAGATAGAAATAATAGCCAGTTATTATTATTTTCCTGCAATAAAATTATTTCTTTCAATAACAATGATACAGACATAAACAGATCATTTTAAAATAACTAAGTTGATGTCAAATTACCTCACCTGGTTTGAGTGGCCTCTTACCTAATGTTGCCCAGCTAA... | TAAGATCCTCTTCACCCTTATCTCTTTTGGAATCACTTAGTCAAATCTTATGAGATGTTAATAAATACATAGCTTTATTATCAGCTCATAAATATTCTATCAAATTATCTTGTTAACACATGCATGAACATAAAAATTCTCTTTGTTAAATTCCAGCAAGAGATAGAAATAATAGCCAGTTATTATTATTTTCCTGCAATAAAATTATTTCTTTCAATAACAATGATACAGACATAAACAGATCATTTTAAAATAACTAAGTTGATGTCAAATTACCTCACCTGGTTTGAGTGGCCTCTTACCTAATGTTGCCCAGCTAA... | pathogenic | 291,754 |
Variant in gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N), located at chromosome 18 position 62109913: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | CTAAATAACCTTTTCCAAACCCAATTTAAGATGTCACTAATTGTACACTAACGGTAATCAAGTGAACTCATAACCATCAAAAATGTATTACATACTTGAGTACTTTTTACATTTCATCACTAGGAAAAAAAGTTAACATTTGTAGTGCATTATTAAGTAGGTAATTTTAGAAGGTCAGTATCATTTGGTTTATGACCTTTCTCTGACTGAAAGCAACAGCTGCAGAATTTCATCAAAATGAGGAAGGTGCCATGTAGGAAAGAAAAGCTAACACCAGTCAAAAGGGGAATGTTTCTTTTATTCTTAACAATGAATAAGCA... | CTAAATAACCTTTTCCAAACCCAATTTAAGATGTCACTAATTGTACACTAACGGTAATCAAGTGAACTCATAACCATCAAAAATGTATTACATACTTGAGTACTTTTTACATTTCATCACTAGGAAAAAAAGTTAACATTTGTAGTGCATTATTAAGTAGGTAATTTTAGAAGGTCAGTATCATTTGGTTTATGACCTTTCTCTGACTGAAAGCAACAGCTGCAGAATTTCATCAAAATGAGGAAGGTGCCATGTAGGAAAGAAAAGCTAACACCAGTCAAAAGGGGAATGTTTCTTTTATTCTTAACAATGAATAAGCA... | pathogenic | 291,777 |
Considering the genetic mutation at chromosome 18, position 62113133, impacting PIGN (phosphatidylinositol glycan anchor biosynthesis class N): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | GGAAGCATGGCATAGAAAGAGAAAGAATTCAAGTGTCAGAAAATATGGGTTCTGTCATTTAAAACCCATGTGTCCTTGTGGAAAACAGGTAATTTTTCTGAGCCTAAATCCCTCCATCTATATTATGAGAATCATAACCACCAAATTTAGGGTAGTGTTAAGCCTAACTAAATAACTTACATAAAGCACCCAGGGCAGTCCTGGAACAGTGGGGCTCAATACATACTACTATTAACCCAGAAGAACAGTACATCTTCCCAAATCTGCCTCTGTTTACATCATTCAGTTTGCTTTAATTCTCAACCTCTCCCTAGATTCTG... | GGAAGCATGGCATAGAAAGAGAAAGAATTCAAGTGTCAGAAAATATGGGTTCTGTCATTTAAAACCCATGTGTCCTTGTGGAAAACAGGTAATTTTTCTGAGCCTAAATCCCTCCATCTATATTATGAGAATCATAACCACCAAATTTAGGGTAGTGTTAAGCCTAACTAAATAACTTACATAAAGCACCCAGGGCAGTCCTGGAACAGTGGGGCTCAATACATACTACTATTAACCCAGAAGAACAGTACATCTTCCCAAATCTGCCTCTGTTTACATCATTCAGTTTGCTTTAATTCTCAACCTCTCCCTAGATTCTG... | pathogenic | 291,782 |
Is the genetic mutation found on chromosome 18 at position 62113309, within the gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | TTACATAAAGCACCCAGGGCAGTCCTGGAACAGTGGGGCTCAATACATACTACTATTAACCCAGAAGAACAGTACATCTTCCCAAATCTGCCTCTGTTTACATCATTCAGTTTGCTTTAATTCTCAACCTCTCCCTAGATTCTGACTGTTAAACTCCCACCAAGACTTACTTTTTCCTGTTATCGTCACCCTAAAGTCAGCTCTCATATTTAAAATATGATAGTCTTTTTATTATCCCAAACACTTTACATATCTTAAAGTTTTCTTTTGTAGTCGAGTGTAGATATAGTGACTTATGCCTGGTAAGGTGGTTGGTTATA... | TTACATAAAGCACCCAGGGCAGTCCTGGAACAGTGGGGCTCAATACATACTACTATTAACCCAGAAGAACAGTACATCTTCCCAAATCTGCCTCTGTTTACATCATTCAGTTTGCTTTAATTCTCAACCTCTCCCTAGATTCTGACTGTTAAACTCCCACCAAGACTTACTTTTTCCTGTTATCGTCACCCTAAAGTCAGCTCTCATATTTAAAATATGATAGTCTTTTTATTATCCCAAACACTTTACATATCTTAAAGTTTTCTTTTGTAGTCGAGTGTAGATATAGTGACTTATGCCTGGTAAGGTGGTTGGTTATA... | pathogenic | 291,788 |
Benign or pathogenic: chromosome 18, position 62114560, gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N) variant? Disease(s) if pathogenic? | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | TTATATTGTCTCAGCAATATGAAGTATCATTAAAGAGATTTTTTTAATTTTTATTTTTTCACTGAAAGCATAGTAAAGTAGGAACAAATTCTTAAAATAAGAATACTTGGAGAGGTCTAGAAATCTGCATTTTGAGAAACTTCAAAAAGTTAAAAGAAGGTAAGTAATTAAAAAATGTATACATCATTTAAGAAGAAACATTATGAGCAAATAATTTTATTGTTCTCTAGCTCCCAAACTTTTAATATCAAATAAAATTAAACATATTGTTTTGAAGTAGTTTTCTGACCAGTTGTACTAGAAAGATATGGAATACTTAT... | TTATATTGTCTCAGCAATATGAAGTATCATTAAAGAGATTTTTTTAATTTTTATTTTTTCACTGAAAGCATAGTAAAGTAGGAACAAATTCTTAAAATAAGAATACTTGGAGAGGTCTAGAAATCTGCATTTTGAGAAACTTCAAAAAGTTAAAAGAAGGTAAGTAATTAAAAAATGTATACATCATTTAAGAAGAAACATTATGAGCAAATAATTTTATTGTTCTCTAGCTCCCAAACTTTTAATATCAAATAAAATTAAACATATTGTTTTGAAGTAGTTTTCTGACCAGTTGTACTAGAAAGATATGGAATACTTAT... | pathogenic | 291,793 |
Chromosome 18, position 62140461, gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | GGAATTTTATGTTACTATATTGTTTCATAAATATTTAAAGAAAAATTTAACATTTTCTTACTATCTCAATAAGCTGAGAATTAAACATATCAATCTTGCAAAGTAACATACTGTAATTAAAACTGTACTTCCTTAACTCTGAAAATAAAACAAGCCAAACCGCTTATTCTTAAAAGCATTAAGAATAACAGAAGGTTTTAGTCAAAGGGTCACCTCTTTAAATTCTTAAGGAATCTCATAACATACATGGAATGACAAGAAATGTTGCAATCTCTAATATGATTTCTATGGGGCAAATTCTAATAGTTAAAGAATTGACT... | GGAATTTTATGTTACTATATTGTTTCATAAATATTTAAAGAAAAATTTAACATTTTCTTACTATCTCAATAAGCTGAGAATTAAACATATCAATCTTGCAAAGTAACATACTGTAATTAAAACTGTACTTCCTTAACTCTGAAAATAAAACAAGCCAAACCGCTTATTCTTAAAAGCATTAAGAATAACAGAAGGTTTTAGTCAAAGGGTCACCTCTTTAAATTCTTAAGGAATCTCATAACATACATGGAATGACAAGAAATGTTGCAATCTCTAATATGATTTCTATGGGGCAAATTCTAATAGTTAAAGAATTGACT... | pathogenic | 291,805 |
Is the chromosome 18, position 62146022 variant in PIGN (phosphatidylinositol glycan anchor biosynthesis class N) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | CACTGCCAAAAGAGTTATAAGATATTTGTATAATAAAATTTCATTCAATAAGCTAATTAAAGTTTAAAAATACGTTTCTGACTCTACCAAAAATTCACACTAATCAGTTGATGAAAAAATGCCCATTCCTTTTCTCTAAAATGTATGATATTTAATATTCATATGAGAAAAAATACATTTCTGATGATTCTTGAAATCATGTGATTCTAAAACGTCAATTCAACATGAAATCAAATGCCAAAATAAAGTTAAATCTCATAAATACAAACATACTATTTACCCTACTTTCTATTTTGATCCAATCTAATCCATTTACCACA... | CACTGCCAAAAGAGTTATAAGATATTTGTATAATAAAATTTCATTCAATAAGCTAATTAAAGTTTAAAAATACGTTTCTGACTCTACCAAAAATTCACACTAATCAGTTGATGAAAAAATGCCCATTCCTTTTCTCTAAAATGTATGATATTTAATATTCATATGAGAAAAAATACATTTCTGATGATTCTTGAAATCATGTGATTCTAAAACGTCAATTCAACATGAAATCAAATGCCAAAATAAAGTTAAATCTCATAAATACAAACATACTATTTACCCTACTTTCTATTTTGATCCAATCTAATCCATTTACCACA... | pathogenic | 291,817 |
Does the chromosome 18 mutation at position 62148286 within gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | AAACAAAAAACCAGACTGCCTGCTGAGTAACTATGGTTGAAAGAATAGAAATAATAACAATAAGACATGGAAGAAATGTTGCTGCTGCCAGAGCAGCACTGCAGACAGAAAGAACAGAGAGCTCCCTTGGGCAGTAACCACCCAAGCTTGGGGCAAGCAGTAGAGACTAAGTCTTTCTGGAGAAGATGGCAAGGTCTCTGGGTCCTTTTCTTCCAGGCCACTCTGGCAGGTAGAGCCAAAAGAAGTCCTTTATAAAGTGGAACTCAAATCACTAGAAATCCATATTGTGATTTGGGGACAAATCTCATCTTTGCTTTATT... | AAACAAAAAACCAGACTGCCTGCTGAGTAACTATGGTTGAAAGAATAGAAATAATAACAATAAGACATGGAAGAAATGTTGCTGCTGCCAGAGCAGCACTGCAGACAGAAAGAACAGAGAGCTCCCTTGGGCAGTAACCACCCAAGCTTGGGGCAAGCAGTAGAGACTAAGTCTTTCTGGAGAAGATGGCAAGGTCTCTGGGTCCTTTTCTTCCAGGCCACTCTGGCAGGTAGAGCCAAAAGAAGTCCTTTATAAAGTGGAACTCAAATCACTAGAAATCCATATTGTGATTTGGGGACAAATCTCATCTTTGCTTTATT... | pathogenic | 291,832 |
Is the genetic variant on chromosome 18, position 62154538, gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Multiple_congenital_anomalies-hypotonia-seizures_syndrome', 'Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | TGGGGGGTTGGGGGAGAGGTGCTTAGAATTTTATTTTTGGTTTACACTACCTTCAACATGCTCAGAACATTTACATTAGTCTACAGTTGGGCAAAATCATCTAACATAAAGCCTATTTTTTAATAAAGTGTTGATAATGTGAAATAAGTGAGATAATAATTACAATCTCATGTAATTTTTGAATACTATACTGAAAGTAAAAAACAAAATGGTTGTATGGATACTCAATGTCCGGTTTATACTAAATATGTATTGCTTTTGCACTGGTGGAAAGTCAAAAGAATCGTAAGTTAAACCATTGTTAAGCTGGGGACTGTCTG... | TGGGGGGTTGGGGGAGAGGTGCTTAGAATTTTATTTTTGGTTTACACTACCTTCAACATGCTCAGAACATTTACATTAGTCTACAGTTGGGCAAAATCATCTAACATAAAGCCTATTTTTTAATAAAGTGTTGATAATGTGAAATAAGTGAGATAATAATTACAATCTCATGTAATTTTTGAATACTATACTGAAAGTAAAAAACAAAATGGTTGTATGGATACTCAATGTCCGGTTTATACTAAATATGTATTGCTTTTGCACTGGTGGAAAGTCAAAAGAATCGTAAGTTAAACCATTGTTAAGCTGGGGACTGTCTG... | pathogenic | 291,836 |
A genetic alteration at chromosome 18, position 62154601, in gene PIGN (phosphatidylinositol glycan anchor biosynthesis class N)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1'] | AGAACATTTACATTAGTCTACAGTTGGGCAAAATCATCTAACATAAAGCCTATTTTTTAATAAAGTGTTGATAATGTGAAATAAGTGAGATAATAATTACAATCTCATGTAATTTTTGAATACTATACTGAAAGTAAAAAACAAAATGGTTGTATGGATACTCAATGTCCGGTTTATACTAAATATGTATTGCTTTTGCACTGGTGGAAAGTCAAAAGAATCGTAAGTTAAACCATTGTTAAGCTGGGGACTGTCTGCAAACACTTAAAATGCTTAAGACAGTAAATTCTGTATTTTGCATATATATATATATATATTTT... | AGAACATTTACATTAGTCTACAGTTGGGCAAAATCATCTAACATAAAGCCTATTTTTTAATAAAGTGTTGATAATGTGAAATAAGTGAGATAATAATTACAATCTCATGTAATTTTTGAATACTATACTGAAAGTAAAAAACAAAATGGTTGTATGGATACTCAATGTCCGGTTTATACTAAATATGTATTGCTTTTGCACTGGTGGAAAGTCAAAAGAATCGTAAGTTAAACCATTGTTAAGCTGGGGACTGTCTGCAAACACTTAAAATGCTTAAGACAGTAAATTCTGTATTTTGCATATATATATATATATATTTT... | pathogenic | 291,838 |
The genetic variant at chromosome 18, position 62325387, affecting gene TNFRSF11A: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_expansile_osteolysis', 'Paget_disease_of_bone_2,_early-onset'] | GGGACAAGTATCTTCATATAAACAGTTACCTTATGATATGGTTTGGCTCTGTCCCCACCCCAAATCTCATCTTCAATTCCCACGTGTTGTGGCAGGGACCTGGTGGGAGGTAATTGAATCATGGCTGCAGGTCTTTCCCGTGCTGTTCTTGTGAAGTGAGTAAGTCTCATGAGATCTGATGGTTTTAAAAATGGGAGTTTCCTTGCACAAGCTCTCTCTTTGCCTGCTGCCATCCAGGAAAGATGTGACTTGCTCCTCCTTGCCTTTCACCATGATTGTGAGACCTCCCCAGCCACATGGAACTGTAAGTCCGTTAAACC... | GGGACAAGTATCTTCATATAAACAGTTACCTTATGATATGGTTTGGCTCTGTCCCCACCCCAAATCTCATCTTCAATTCCCACGTGTTGTGGCAGGGACCTGGTGGGAGGTAATTGAATCATGGCTGCAGGTCTTTCCCGTGCTGTTCTTGTGAAGTGAGTAAGTCTCATGAGATCTGATGGTTTTAAAAATGGGAGTTTCCTTGCACAAGCTCTCTCTTTGCCTGCTGCCATCCAGGAAAGATGTGACTTGCTCCTCCTTGCCTTTCACCATGATTGTGAGACCTCCCCAGCCACATGGAACTGTAAGTCCGTTAAACC... | pathogenic | 291,865 |
Considering the variant on chromosome 18, location 63798670, involving gene SERPINB7 (serpin family B member 7), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Palmoplantar_keratoderma,_Nagashima_type'] | GCAAAACCCTGCAGGACAAACATATTATTGTGACCACTTCATATATGAATAACAAGCTGAGTTAATTTGATAAATTAACCTCAATATCTCACCCTCGTTAGTGAACAAAAACTAAGAGTTATTATTTTCTTATTACTTTCAATGACCACATTATTATTTTCAATGACCACAGCATAACATTTCATTTAATAATCAACCTATTTTTTAAAGATAGGGCTGATTTTCATACTTTATAATTGCTTTATGGACTGAATCTTATTAAAGCTATAACATTCTACTGTCAAAGAAATGTATTTTCATGATATTGCTTTTTCCAAGGA... | GCAAAACCCTGCAGGACAAACATATTATTGTGACCACTTCATATATGAATAACAAGCTGAGTTAATTTGATAAATTAACCTCAATATCTCACCCTCGTTAGTGAACAAAAACTAAGAGTTATTATTTTCTTATTACTTTCAATGACCACATTATTATTTTCAATGACCACAGCATAACATTTCATTTAATAATCAACCTATTTTTTAAAGATAGGGCTGATTTTCATACTTTATAATTGCTTTATGGACTGAATCTTATTAAAGCTATAACATTCTACTGTCAAAGAAATGTATTTTCATGATATTGCTTTTTCCAAGGA... | pathogenic | 291,913 |
A genetic alteration at chromosome 18, position 63800914, in gene SERPINB7 (serpin family B member 7)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Palmoplantar_keratoderma,_Nagashima_type'] | ATTACCAATATCATATGGTCAGTTGCTTTATAAAGCAAACTTTCTATTTTCCCTGTCATGCAGGCTATGAAACACCACCAAACGTGTCTTGTAAATTGGTATTCTTTAAAATACATTCAAAATTGAAAGAAGTGGTATGAATGTATCTTAAGATATTATAATTGGAGACCTATAAGAAAATATATGACAAAAGTGTATTTTTCATTTTTCATTTTTTTAACCATGAGGTCTATACTTAAAATCATTTACCATCAATGATTTTCCTGAGTCACAGCAGGGAATGTGTTCTCTTTTGCAAGGGGAAAAGTTATATTTAGTAA... | ATTACCAATATCATATGGTCAGTTGCTTTATAAAGCAAACTTTCTATTTTCCCTGTCATGCAGGCTATGAAACACCACCAAACGTGTCTTGTAAATTGGTATTCTTTAAAATACATTCAAAATTGAAAGAAGTGGTATGAATGTATCTTAAGATATTATAATTGGAGACCTATAAGAAAATATATGACAAAAGTGTATTTTTCATTTTTCATTTTTTTAACCATGAGGTCTATACTTAAAATCATTTACCATCAATGATTTTCCTGAGTCACAGCAGGGAATGTGTTCTCTTTTGCAAGGGGAAAAGTTATATTTAGTAA... | pathogenic | 291,917 |
Variant on chromosome 18, at position 70030989, affecting RTTN (rotatin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACTGACAGGCTAACGATCTCTGAAAGATGACCATATCTCAAGAAGCACATTCACCATGAAAAAGCTATTTCTGTTCTATCAAGCATGGAGGAACTCGGATATATGATAGCCTCCATGTTTCATCTCAATAAAGTGAGGCAGATACTGAGAGATTTTCAATAATATCAGGTGTTGGCTGACTTTCTCAATGATGAAGGGCCTTTGGCTAGGGAGGAAAAGAGGCAAAAAAAAAAAAAAAAAGAACTGATAAACATACAATCAATCTCCTGCATCAATTACATTATTAAATAAGACTTTGTCTTGGTTTCTTAAATGCAGTA... | ACTGACAGGCTAACGATCTCTGAAAGATGACCATATCTCAAGAAGCACATTCACCATGAAAAAGCTATTTCTGTTCTATCAAGCATGGAGGAACTCGGATATATGATAGCCTCCATGTTTCATCTCAATAAAGTGAGGCAGATACTGAGAGATTTTCAATAATATCAGGTGTTGGCTGACTTTCTCAATGATGAAGGGCCTTTGGCTAGGGAGGAAAAGAGGCAAAAAAAAAAAAAAAAAGAACTGATAAACATACAATCAATCTCCTGCATCAATTACATTATTAAATAAGACTTTGTCTTGGTTTCTTAAATGCAGTA... | benign | 292,013 |
Does the variant on chromosome 18 at location 70051401 affecting gene RTTN (rotatin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAGAAGAAAATCCCAATGTCTTAATCAGTCAATCTCTTTCAATTATTATATTTTAAACAAAATAATGATATCCTACGTGGACACTGTACTCCATGGTAGACTCAGAACTCCTACATCCAGAAAATTAACAATTCTGTTCCTTGTTAAACATGCATTTGCCATAATTCTTACTATCGCTTTGGTTAAAAATTGTATCATGCATTTAAGTTTACTGAATGATCAAATGATAAAATAAATGTTAAAAAAAATCGGTCAGTTGAATTAGCAGGTACTTTGGAAGCTTAAAATAACTCAATTTTGAGTACATTTAAGTAGGTTGT... | AAGAAGAAAATCCCAATGTCTTAATCAGTCAATCTCTTTCAATTATTATATTTTAAACAAAATAATGATATCCTACGTGGACACTGTACTCCATGGTAGACTCAGAACTCCTACATCCAGAAAATTAACAATTCTGTTCCTTGTTAAACATGCATTTGCCATAATTCTTACTATCGCTTTGGTTAAAAATTGTATCATGCATTTAAGTTTACTGAATGATCAAATGATAAAATAAATGTTAAAAAAAATCGGTCAGTTGAATTAGCAGGTACTTTGGAAGCTTAAAATAACTCAATTTTGAGTACATTTAAGTAGGTTGT... | benign | 292,017 |
Variant in RTTN (rotatin), chromosome 18, position 70073997—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTAATAAGATTTACATCCACTCAACTTATACCTCAATTTGTAACTTCAACATTTTTTTATACATAAGAAAGTATGCCTTGGTCGAAGTACTGACAGCTTTGGTTTAAAGTAACACTGGCAGAATGAAAACACTCTCCAGATTTTTCTCCTGTTGGGACAAAGATACACATCATCTTGGGTATGGTAAAGAAAATATAACTAGTAGAATTAGGGTACGAAGACTATTTTTGTAACTAAAAGTCACCCATTCTAAAAGTTGTTTGGAAACCTCCCGAAAAAGAAAGTAAAAAGTAAATTCTGTAAAAATTCTAACAGAATAC... | TTAATAAGATTTACATCCACTCAACTTATACCTCAATTTGTAACTTCAACATTTTTTTATACATAAGAAAGTATGCCTTGGTCGAAGTACTGACAGCTTTGGTTTAAAGTAACACTGGCAGAATGAAAACACTCTCCAGATTTTTCTCCTGTTGGGACAAAGATACACATCATCTTGGGTATGGTAAAGAAAATATAACTAGTAGAATTAGGGTACGAAGACTATTTTTGTAACTAAAAGTCACCCATTCTAAAAGTTGTTTGGAAACCTCCCGAAAAAGAAAGTAAAAAGTAAATTCTGTAAAAATTCTAACAGAATAC... | benign | 292,049 |
Is the genetic mutation found on chromosome 18 at position 70086694, within the gene RTTN (rotatin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAGAGGAAGAAAATCTGAGTTTATTAAAAAGCATACAAGATTGTCCTTATTTATCTAATTTTTCCTAAGACTAGCAAAAGTTGTAATCAACTATTGTTTGGGACAGCAGTGGCTCTCCAACTTTTTTTATTTTGGCCAACTTAGCAAGGCCAAAACTCCAAAAGCTAACTTAAATCACTATTTTCCACTTTTTAGTAGAAAAGGATTTCCATGATGAAGACTGGAGAATAACAAAACCAATAAACTGCAGTAAGCATGCCACCAGCAACAAACAGGAACTTTACTATTTAATTTCTAAGAGAAAAATATGAACAGCTACA... | GAGAGGAAGAAAATCTGAGTTTATTAAAAAGCATACAAGATTGTCCTTATTTATCTAATTTTTCCTAAGACTAGCAAAAGTTGTAATCAACTATTGTTTGGGACAGCAGTGGCTCTCCAACTTTTTTTATTTTGGCCAACTTAGCAAGGCCAAAACTCCAAAAGCTAACTTAAATCACTATTTTCCACTTTTTAGTAGAAAAGGATTTCCATGATGAAGACTGGAGAATAACAAAACCAATAAACTGCAGTAAGCATGCCACCAGCAACAAACAGGAACTTTACTATTTAATTTCTAAGAGAAAAATATGAACAGCTACA... | benign | 292,057 |
Variant chromosome 18, position 70086694, gene RTTN (rotatin): benign or pathogenic? Disease(s)? | benign | GAGAGGAAGAAAATCTGAGTTTATTAAAAAGCATACAAGATTGTCCTTATTTATCTAATTTTTCCTAAGACTAGCAAAAGTTGTAATCAACTATTGTTTGGGACAGCAGTGGCTCTCCAACTTTTTTTATTTTGGCCAACTTAGCAAGGCCAAAACTCCAAAAGCTAACTTAAATCACTATTTTCCACTTTTTAGTAGAAAAGGATTTCCATGATGAAGACTGGAGAATAACAAAACCAATAAACTGCAGTAAGCATGCCACCAGCAACAAACAGGAACTTTACTATTTAATTTCTAAGAGAAAAATATGAACAGCTACA... | GAGAGGAAGAAAATCTGAGTTTATTAAAAAGCATACAAGATTGTCCTTATTTATCTAATTTTTCCTAAGACTAGCAAAAGTTGTAATCAACTATTGTTTGGGACAGCAGTGGCTCTCCAACTTTTTTTATTTTGGCCAACTTAGCAAGGCCAAAACTCCAAAAGCTAACTTAAATCACTATTTTCCACTTTTTAGTAGAAAAGGATTTCCATGATGAAGACTGGAGAATAACAAAACCAATAAACTGCAGTAAGCATGCCACCAGCAACAAACAGGAACTTTACTATTTAATTTCTAAGAGAAAAATATGAACAGCTACA... | benign | 292,058 |
Mutation at chromosome 18, position 70092761, within RTTN (rotatin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['RTTN-related_disorder'] | CTGATTTCTGTGGGCCAGAATGATGACCCTGCCCAGTGCTTCAGGAACATGGCTGCCCTTGAAGACAGCTTTATGGGCGGGGCTCTTGAAGACAGCCAAAGGGGTGGGGTCATCCCACAGAGCCATCTAGACAGATGCTGTCACTCTGGTGGGCCTGTAAGGCACACCATCAAGCCAAAGAACATTATCCTTGAGCATTAACATCTAATGAAATTTGCTTTGCTAGGCTTTGGACTTGCTTGGGACCCATCACTTCTTCCTTTTTTTCCTATTTCTCTCTTTTGGAATGGGAATGTCTATTCTACCATCATCTTTTGGAA... | CTGATTTCTGTGGGCCAGAATGATGACCCTGCCCAGTGCTTCAGGAACATGGCTGCCCTTGAAGACAGCTTTATGGGCGGGGCTCTTGAAGACAGCCAAAGGGGTGGGGTCATCCCACAGAGCCATCTAGACAGATGCTGTCACTCTGGTGGGCCTGTAAGGCACACCATCAAGCCAAAGAACATTATCCTTGAGCATTAACATCTAATGAAATTTGCTTTGCTAGGCTTTGGACTTGCTTGGGACCCATCACTTCTTCCTTTTTTTCCTATTTCTCTCTTTTGGAATGGGAATGTCTATTCTACCATCATCTTTTGGAA... | pathogenic | 292,063 |
Variant at chromosome position 70142396, chromosome 18, gene RTTN (rotatin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TTACGTACACCTGTCCAATTTGAAAATGTTTAAGTAAAAAGCATATCTTACTTCTGTCACATAAAATACAAAACTATAAAAAAAGAATTATGGAACTAGTTCAGACTCTGAAAACTACGAGAATTTAAGTGTACAAATGAATGCTTATATTTATACATGCAAATTATCTTCTTTATATTATTTCATTGACTCTTCCAAATTTATCACCTTCAAATGTTTATAATTCTCCACAAGCTCATGTGTAAAATATGACTTACAACATGAACATTTTTCTATCTATAAAAAAATCTCTAACCTCAAACTATTAATAGCAAATATAA... | TTACGTACACCTGTCCAATTTGAAAATGTTTAAGTAAAAAGCATATCTTACTTCTGTCACATAAAATACAAAACTATAAAAAAAGAATTATGGAACTAGTTCAGACTCTGAAAACTACGAGAATTTAAGTGTACAAATGAATGCTTATATTTATACATGCAAATTATCTTCTTTATATTATTTCATTGACTCTTCCAAATTTATCACCTTCAAATGTTTATAATTCTCCACAAGCTCATGTGTAAAATATGACTTACAACATGAACATTTTTCTATCTATAAAAAAATCTCTAACCTCAAACTATTAATAGCAAATATAA... | benign | 292,085 |
The mutation in gene RTTN (rotatin) at chromosome 18, position 70142396—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTACGTACACCTGTCCAATTTGAAAATGTTTAAGTAAAAAGCATATCTTACTTCTGTCACATAAAATACAAAACTATAAAAAAAGAATTATGGAACTAGTTCAGACTCTGAAAACTACGAGAATTTAAGTGTACAAATGAATGCTTATATTTATACATGCAAATTATCTTCTTTATATTATTTCATTGACTCTTCCAAATTTATCACCTTCAAATGTTTATAATTCTCCACAAGCTCATGTGTAAAATATGACTTACAACATGAACATTTTTCTATCTATAAAAAAATCTCTAACCTCAAACTATTAATAGCAAATATAA... | TTACGTACACCTGTCCAATTTGAAAATGTTTAAGTAAAAAGCATATCTTACTTCTGTCACATAAAATACAAAACTATAAAAAAAGAATTATGGAACTAGTTCAGACTCTGAAAACTACGAGAATTTAAGTGTACAAATGAATGCTTATATTTATACATGCAAATTATCTTCTTTATATTATTTCATTGACTCTTCCAAATTTATCACCTTCAAATGTTTATAATTCTCCACAAGCTCATGTGTAAAATATGACTTACAACATGAACATTTTTCTATCTATAAAAAAATCTCTAACCTCAAACTATTAATAGCAAATATAA... | benign | 292,086 |
Variant in RTTN (rotatin), chromosome 18, position 70196614—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACAAATGCATAGATGAATAAAATGTGGGATATACATGCAAAGGAATATTATTCAGCCATATAAAGGAATGAAGTTCTGATACAAGCTACAATGTGGATGAAGCTTGAAAACATTACAAATAAACCAGACACAAAAGGACAAATACTGTATGATTCCTCTTAGATGAGGTACCTAGAATAGACAAAATCAGAGACAGAAAGTAAATTAGAGTTTACCAGCTTTGGGGAAAGGAAAAATGAGGAATCACTGCTTAATGATTAGAGTTTCTGTTTCAGATAATGAAGAGGTTTAGAAACAGATAGTGGTGATGGCTGCACAAC... | ACAAATGCATAGATGAATAAAATGTGGGATATACATGCAAAGGAATATTATTCAGCCATATAAAGGAATGAAGTTCTGATACAAGCTACAATGTGGATGAAGCTTGAAAACATTACAAATAAACCAGACACAAAAGGACAAATACTGTATGATTCCTCTTAGATGAGGTACCTAGAATAGACAAAATCAGAGACAGAAAGTAAATTAGAGTTTACCAGCTTTGGGGAAAGGAAAAATGAGGAATCACTGCTTAATGATTAGAGTTTCTGTTTCAGATAATGAAGAGGTTTAGAAACAGATAGTGGTGATGGCTGCACAAC... | benign | 292,123 |
Is the variant located on chromosome 18 at position 79715187, gene CTDP1 (CTD phosphatase subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTGGGTAACCTCCTTCCTGATTCTCTAGAAGAATTCACATTTGCTTATTGTTTAGCTCTTCTTATTTCTTATCTCTGTTTTGACTGCTATAAATTCAAGATACACTTTTTTTATTTGTGTTTCAGTAGAGATTATTGGATTTATTTATAGAGTACTGAAAAACAGGATATTAGGTTGTTTCAATTTGGGCTTTAAAAAAAATGGCCCTCACTTAAGCGTTTTCCCAGTTGAATAAAAACTAGAGGATGCTGTTTAACCTAACACATCCGAATAACTCCCTTCATCCCAGTTTTCCTTAAACACATCCCTGGGTATTGGGC... | GTGGGTAACCTCCTTCCTGATTCTCTAGAAGAATTCACATTTGCTTATTGTTTAGCTCTTCTTATTTCTTATCTCTGTTTTGACTGCTATAAATTCAAGATACACTTTTTTTATTTGTGTTTCAGTAGAGATTATTGGATTTATTTATAGAGTACTGAAAAACAGGATATTAGGTTGTTTCAATTTGGGCTTTAAAAAAAATGGCCCTCACTTAAGCGTTTTCCCAGTTGAATAAAAACTAGAGGATGCTGTTTAACCTAACACATCCGAATAACTCCCTTCATCCCAGTTTTCCTTAAACACATCCCTGGGTATTGGGC... | benign | 292,319 |
Is the variant located on chromosome 18 at position 79988282, gene TXNL4A (thioredoxin like 4A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Choanal_atresia-hearing_loss-cardiac_defects-craniofacial_dysmorphism_syndrome'] | CCATATTGTCCAGGCTGGTCTCGAATCCCTGGGCTCAAGTGATCGCCTACGCTGGCCTCCCAAAGTGCTGGGATTACAGACATGAACTACCGCGCCTGGCCTAGGTTTGCCCTTTTAATAACTATATTATAATATTCGCATTAAAAGTTTATTAATAAAGCTATCCAAATTTTTGGACAAAAACAAAAATCAGACTATTTTAAAAGACCAAAAAAAATACCCCAAAGTGAGCCCATTTCAACTGTCCTTAAGTGTGTGTCCACTATGTGTGTCCACTAGTGATACAGTGATTCATTCTGTAATAACAAAGAAATTGGACA... | CCATATTGTCCAGGCTGGTCTCGAATCCCTGGGCTCAAGTGATCGCCTACGCTGGCCTCCCAAAGTGCTGGGATTACAGACATGAACTACCGCGCCTGGCCTAGGTTTGCCCTTTTAATAACTATATTATAATATTCGCATTAAAAGTTTATTAATAAAGCTATCCAAATTTTTGGACAAAAACAAAAATCAGACTATTTTAAAAGACCAAAAAAAATACCCCAAAGTGAGCCCATTTCAACTGTCCTTAAGTGTGTGTCCACTATGTGTGTCCACTAGTGATACAGTGATTCATTCTGTAATAACAAAGAAATTGGACA... | pathogenic | 292,358 |
Variant chromosome 18, position 79988580, gene TXNL4A: benign or pathogenic? Disease(s)? | pathogenic; ['Choanal_atresia-hearing_loss-cardiac_defects-craniofacial_dysmorphism_syndrome'] | GTAATAACAAAGAAATTGGACATAAAGGAGTTGGAAAAGAGCAAATCTGGCAAAGACCCTAAACACTTACATTAACACATAAAATCTGTTTTCTAGCTAAGAGCATCTTGCTGAGCTGTGCTCGGATGTGATGAGACAAAGGCCCTCACATCTCCAGCCATCCTAGCCTCGAGCTGCCGGCAGCAGGATCTGAACACCACCCGATGTTTATGCCACCACCTGCAATGTAGAACAGTGAAAGATTCTAGAATTCATAACTCAAAGTCAATACAGCAGTGATTTACTTATTGGGAAACTGCTCTTAGTCAATTCTTCGCTGG... | GTAATAACAAAGAAATTGGACATAAAGGAGTTGGAAAAGAGCAAATCTGGCAAAGACCCTAAACACTTACATTAACACATAAAATCTGTTTTCTAGCTAAGAGCATCTTGCTGAGCTGTGCTCGGATGTGATGAGACAAAGGCCCTCACATCTCCAGCCATCCTAGCCTCGAGCTGCCGGCAGCAGGATCTGAACACCACCCGATGTTTATGCCACCACCTGCAATGTAGAACAGTGAAAGATTCTAGAATTCATAACTCAAAGTCAATACAGCAGTGATTTACTTATTGGGAAACTGCTCTTAGTCAATTCTTCGCTGG... | pathogenic | 292,360 |
The genetic variant at chromosome 18, position 79988603, affecting gene TXNL4A: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Choanal_atresia-hearing_loss-cardiac_defects-craniofacial_dysmorphism_syndrome', 'TXNL4A-related_disorder'] | AAAGGAGTTGGAAAAGAGCAAATCTGGCAAAGACCCTAAACACTTACATTAACACATAAAATCTGTTTTCTAGCTAAGAGCATCTTGCTGAGCTGTGCTCGGATGTGATGAGACAAAGGCCCTCACATCTCCAGCCATCCTAGCCTCGAGCTGCCGGCAGCAGGATCTGAACACCACCCGATGTTTATGCCACCACCTGCAATGTAGAACAGTGAAAGATTCTAGAATTCATAACTCAAAGTCAATACAGCAGTGATTTACTTATTGGGAAACTGCTCTTAGTCAATTCTTCGCTGGATTTCCAGTATCTGCCCTTGTCC... | AAAGGAGTTGGAAAAGAGCAAATCTGGCAAAGACCCTAAACACTTACATTAACACATAAAATCTGTTTTCTAGCTAAGAGCATCTTGCTGAGCTGTGCTCGGATGTGATGAGACAAAGGCCCTCACATCTCCAGCCATCCTAGCCTCGAGCTGCCGGCAGCAGGATCTGAACACCACCCGATGTTTATGCCACCACCTGCAATGTAGAACAGTGAAAGATTCTAGAATTCATAACTCAAAGTCAATACAGCAGTGATTTACTTATTGGGAAACTGCTCTTAGTCAATTCTTCGCTGGATTTCCAGTATCTGCCCTTGTCC... | pathogenic | 292,361 |
Variant in gene KISS1R (KISS1 receptor), located at chromosome 19 position 920280: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GAGGCTCAGAGGGTCAGGGGCCTGCTTAGGCTCCCCCAGCCCGGACAGGGCCCAGCAGAACCGATTTCTGCCGGAATGGCCAGGAAATCCGAGCCGGAGGCGTAATGTTTGAGATGTAAGGGGGAATTACTAGAAGGCGCCCCAACTTCTCCGCCCGAGGAGGCCAGGGGCGCTGGGGGAGGGGGGGGCCTCCCTGAGCCATCCTGCTGGTCACTCGGACCAAGGTGGGGGCCAGGGGTCAGGGCCAGGAGCGCTGGGCGGTTCCCGCGGCCAGTGGCGCCCACGCCCAGCGCCCGCGCATCCCCACCGCAGCCAACCTG... | GAGGCTCAGAGGGTCAGGGGCCTGCTTAGGCTCCCCCAGCCCGGACAGGGCCCAGCAGAACCGATTTCTGCCGGAATGGCCAGGAAATCCGAGCCGGAGGCGTAATGTTTGAGATGTAAGGGGGAATTACTAGAAGGCGCCCCAACTTCTCCGCCCGAGGAGGCCAGGGGCGCTGGGGGAGGGGGGGGCCTCCCTGAGCCATCCTGCTGGTCACTCGGACCAAGGTGGGGGCCAGGGGTCAGGGCCAGGAGCGCTGGGCGGTTCCCGCGGCCAGTGGCGCCCACGCCCAGCGCCCGCGCATCCCCACCGCAGCCAACCTG... | benign | 292,578 |
Regarding the variant found on chromosome 19 at position 1105768 in gene GPX4 (glutathione peroxidase 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Spondylometaphyseal_dysplasia,_Sedaghatian_type'] | CCTGCGGCCGCGCTGCTGTCAACCAGCCGGATAACTGCGCTGCCTCCCGACGCGCCGCCAGCCAGGCCACGGCCTCCTAGACACAAGCGAGCATGCGCAGTCGCCAACAACAAGTCCGCACGTCCGGTCCCGCCCCCCCTTCCCCGCCTTCTTCCCACTCCGGCCTCCCATTGGCTGACGTCGGCGCGAGCGCTCAACACCGACGCGTCTGACCAATGAGCGCTCTGGAGGGCGTGGCCGTGGGAAAGGAGGCGCGGAAAGCCGACGCGCGTCCATTGGTCGGCTGGACGAGGGGAGGAGCCGCTGGCTCCCAGCCCCGC... | CCTGCGGCCGCGCTGCTGTCAACCAGCCGGATAACTGCGCTGCCTCCCGACGCGCCGCCAGCCAGGCCACGGCCTCCTAGACACAAGCGAGCATGCGCAGTCGCCAACAACAAGTCCGCACGTCCGGTCCCGCCCCCCCTTCCCCGCCTTCTTCCCACTCCGGCCTCCCATTGGCTGACGTCGGCGCGAGCGCTCAACACCGACGCGTCTGACCAATGAGCGCTCTGGAGGGCGTGGCCGTGGGAAAGGAGGCGCGGAAAGCCGACGCGCGTCCATTGGTCGGCTGGACGAGGGGAGGAGCCGCTGGCTCCCAGCCCCGC... | pathogenic | 292,645 |
Is the chromosome 19, position 1106398 variant in GPX4 (glutathione peroxidase 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Spondylometaphyseal_dysplasia,_Sedaghatian_type'] | GGGGAAGGGGAAGGGGTTGTTCCACGCGCGCGGGTCGTGGTCGGGGAAGGGGCCGTCCAGGCCGTTGCAGGCGCGCGTGCCGGGGCCGGGGTCGGGGGTCCAGGCTTGCAGGGGGCGGGGTCCGGGACGGCTGGGGCGGAGCTGGACCGTTGAGGGCCACGGCGGGGCGTCTCCGGGCCGAGCGGGGCTGCTGCGCCCGAGCGGTTGGGGGCGCGGAGGGCTGGAAATCCCGGATCACGCGCCCCCGGGCGCCGCCCCGCCCCCGCACCTTGGCCTAGCGCGGTGGCGTCACAGTCGCGCAGTCCTGACTACGGCCTCCG... | GGGGAAGGGGAAGGGGTTGTTCCACGCGCGCGGGTCGTGGTCGGGGAAGGGGCCGTCCAGGCCGTTGCAGGCGCGCGTGCCGGGGCCGGGGTCGGGGGTCCAGGCTTGCAGGGGGCGGGGTCCGGGACGGCTGGGGCGGAGCTGGACCGTTGAGGGCCACGGCGGGGCGTCTCCGGGCCGAGCGGGGCTGCTGCGCCCGAGCGGTTGGGGGCGCGGAGGGCTGGAAATCCCGGATCACGCGCCCCCGGGCGCCGCCCCGCCCCCGCACCTTGGCCTAGCGCGGTGGCGTCACAGTCGCGCAGTCCTGACTACGGCCTCCG... | pathogenic | 292,651 |
Mutation found at chromosome 19 position 1206939, gene STK11 (serine/threonine kinase 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Melanoma,_cutaneous_malignant,_susceptibility_to,_1', 'Peutz-Jeghers_syndrome'] | ATTACAGACATGCACCTGTAATTTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACGCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCGGAGATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCC... | ATTACAGACATGCACCTGTAATTTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACGCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCGGAGATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCC... | pathogenic | 292,674 |
Is the genetic variant on chromosome 19, position 1207025, gene STK11 (serine/threonine kinase 11), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | GAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCGGAGATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCAC... | GAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCGGAGATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCAC... | pathogenic | 292,701 |
Evaluate the clinical significance of the mutation at chromosome 19, position 1207053 in gene STK11 (serine/threonine kinase 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Peutz-Jeghers_syndrome'] | CCAGGAGGCGGAGATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTC... | CCAGGAGGCGGAGATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTC... | pathogenic | 292,711 |
Located at chromosome 19 position 1207065, the variant affecting gene STK11 (serine/threonine kinase 11)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | GATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGG... | GATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGG... | pathogenic | 292,713 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 1207065, gene STK11 (serine/threonine kinase 11). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | GATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGG... | GATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGG... | pathogenic | 292,714 |
Is chromosome 19, position 1207065, gene STK11 (serine/threonine kinase 11) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGG... | GATTGTACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGG... | pathogenic | 292,715 |
Chromosome 19, position 1207070, gene STK11 (serine/threonine kinase 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | TACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGC... | TACCAAGATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGC... | pathogenic | 292,716 |
Evaluate if the mutation on chromosome 19 at position 1207077 in STK11 (serine/threonine kinase 11) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | ATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAG... | ATAGTTTGTTCCAGCTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAG... | pathogenic | 292,720 |
Gene STK11 (serine/threonine kinase 11) variant at chromosome position 1207091 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Peutz-Jeghers_syndrome'] | CTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGG... | CTAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGG... | pathogenic | 292,724 |
Evaluate the clinical significance of the mutation at chromosome 19, position 1207092 in gene STK11 (serine/threonine kinase 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | TAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGG... | TAAACAACCTGGCGCTAGTGCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGG... | pathogenic | 292,725 |
A mutation at chromosome position 1207111 on chromosome 19 in gene STK11 (serine/threonine kinase 11): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Peutz-Jeghers_syndrome'] | GCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGGTGGCCCCGCTCCTTCCAGG... | GCAGGAAAAGGTGGAAGGCACGGGGCTAGCACAGGAGGGTTCAATATTTTCAACCTTATCAAGCCATATTTTGGCAACTCTTGTTTTTCACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGGTGGCCCCGCTCCTTCCAGG... | pathogenic | 292,732 |
Variant chromosome 19, position 1207199, gene STK11 (serine/threonine kinase 11): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | CACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGGTGGCCCCGCTCCTTCCAGGTCCGCAAGCCCAGGTTCCCGCCCACCGGGCTCAGCCCACCCTGCGGCCGTTCAGGGAGGCCGTTGGCACCCGTGACCTACGACCCCCT... | CACGAGAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGGTGGCCCCGCTCCTTCCAGGTCCGCAAGCCCAGGTTCCCGCCCACCGGGCTCAGCCCACCCTGCGGCCGTTCAGGGAGGCCGTTGGCACCCGTGACCTACGACCCCCT... | pathogenic | 292,764 |
Variant on chromosome 19, at position 1207204, affecting STK11 (serine/threonine kinase 11): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | GAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGGTGGCCCCGCTCCTTCCAGGTCCGCAAGCCCAGGTTCCCGCCCACCGGGCTCAGCCCACCCTGCGGCCGTTCAGGGAGGCCGTTGGCACCCGTGACCTACGACCCCCTTCCCG... | GAAGCCCCCGCTGGGCTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGGTGGCCCCGCTCCTTCCAGGTCCGCAAGCCCAGGTTCCCGCCCACCGGGCTCAGCCCACCCTGCGGCCGTTCAGGGAGGCCGTTGGCACCCGTGACCTACGACCCCCTTCCCG... | pathogenic | 292,769 |
Mutation at chromosome 19, position 1207219, within STK11 (serine/threonine kinase 11): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGGTGGCCCCGCTCCTTCCAGGTCCGCAAGCCCAGGTTCCCGCCCACCGGGCTCAGCCCACCCTGCGGCCGTTCAGGGAGGCCGTTGGCACCCGTGACCTACGACCCCCTTCCCGAGCCCCACCGAGGTC... | CTTGTCCCAGCGCTGTCCTGAGGCTTCCCCCATGAGTTCCGATAGGGCAGAGGCCGCCCTGAGCGTTTCTCTTTCCCCTGGTCCAAGAGTGGCTCAAAAGAAGGATTTTTGACTGGAATTGGCCACTTTGTGTTACTTTTTGACCCTTGACCTCGCCCCAAAGGGGGATGCGGGGGAGGGGCTCTGGTAGGGGTGGCCCCGCTCCTTCCAGGTCCGCAAGCCCAGGTTCCCGCCCACCGGGCTCAGCCCACCCTGCGGCCGTTCAGGGAGGCCGTTGGCACCCGTGACCTACGACCCCCTTCCCGAGCCCCACCGAGGTC... | benign | 292,777 |
Considering the variant on chromosome 19, location 1218399, involving gene STK11 (serine/threonine kinase 11), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CGCGGTGACTCACGAGAGCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTTGCGGGCACCTGTAGTCCCAGCGACTCAGGGGCTGAGTCAGGAGAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTGGCCTGGCGACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAACAAGAAATGGGATCCTGTCATCCCAGCGTTTTCCGAGGCCGAGGTGGGCAGATGACTTGAGCCTAGTAGTTCAAACGA... | CGCGGTGACTCACGAGAGCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTTGCGGGCACCTGTAGTCCCAGCGACTCAGGGGCTGAGTCAGGAGAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTGGCCTGGCGACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAACAAGAAATGGGATCCTGTCATCCCAGCGTTTTCCGAGGCCGAGGTGGGCAGATGACTTGAGCCTAGTAGTTCAAACGA... | benign | 292,785 |
Is chromosome 19, position 1218447, gene STK11 (serine/threonine kinase 11) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Peutz-Jeghers_syndrome'] | GTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTTGCGGGCACCTGTAGTCCCAGCGACTCAGGGGCTGAGTCAGGAGAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTGGCCTGGCGACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAACAAGAAATGGGATCCTGTCATCCCAGCGTTTTCCGAGGCCGAGGTGGGCAGATGACTTGAGCCTAGTAGTTCAAACGAGACCAGCCTGGGCAGCACGGTGAAACTGTCTCTACTAAAATACAAAAA... | GTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTTGCGGGCACCTGTAGTCCCAGCGACTCAGGGGCTGAGTCAGGAGAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTGGCCTGGCGACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAACAAGAAATGGGATCCTGTCATCCCAGCGTTTTCCGAGGCCGAGGTGGGCAGATGACTTGAGCCTAGTAGTTCAAACGAGACCAGCCTGGGCAGCACGGTGAAACTGTCTCTACTAAAATACAAAAA... | pathogenic | 292,801 |
Does the variant on chromosome 19 at location 1219335 affecting gene STK11 (serine/threonine kinase 11) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_pancreatic_carcinoma', 'Germ_cell_tumor_of_testis', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma,_cutaneous_malignant,_susceptibility_to,_1', 'Peutz-Jeghers_syndrome'] | AACTACAGGCTCAAGTGATCCTCCCACCTGAGCCTCCCGAGTAGCTAGGACTTGAGGCACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGG... | AACTACAGGCTCAAGTGATCCTCCCACCTGAGCCTCCCGAGTAGCTAGGACTTGAGGCACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGG... | pathogenic | 292,820 |
The mutation impacting STK11 (serine/threonine kinase 11) on chromosome 19 at position 1219345: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | TCAAGTGATCCTCCCACCTGAGCCTCCCGAGTAGCTAGGACTTGAGGCACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGC... | TCAAGTGATCCTCCCACCTGAGCCTCCCGAGTAGCTAGGACTTGAGGCACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGC... | pathogenic | 292,822 |
Gene STK11 (serine/threonine kinase 11) variant at chromosome 19, position 1219366—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | GCCTCCCGAGTAGCTAGGACTTGAGGCACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTT... | GCCTCCCGAGTAGCTAGGACTTGAGGCACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTT... | pathogenic | 292,825 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 1219392, gene STK11 (serine/threonine kinase 11): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | CACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTTCTGTGGCGTCTCCTTCTTCGCCTGCC... | CACGTACCTCCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTTCTGTGGCGTCTCCTTCTTCGCCTGCC... | pathogenic | 292,833 |
A genetic variant on chromosome 19, position 1219429, affects the gene STK11 (serine/threonine kinase 11). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTTCTGTGGCGTCTCCTTCTTCGCCTGCCCCTTCCTATGGGCCATCCTTCCAGCTCACCTGCGGCC... | GTAGAGACAGGGTTTCGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTTCTGTGGCGTCTCCTTCTTCGCCTGCCCCTTCCTATGGGCCATCCTTCCAGCTCACCTGCGGCC... | benign | 292,845 |
Considering the genetic mutation at chromosome 19, position 1219444, impacting STK11 (serine/threonine kinase 11): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTTCTGTGGCGTCTCCTTCTTCGCCTGCCCCTTCCTATGGGCCATCCTTCCAGCTCACCTGCGGCCCACCCTCCAAGGAGT... | CGCCGTGTTGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTTCTGTGGCGTCTCCTTCTTCGCCTGCCCCTTCCTATGGGCCATCCTTCCAGCTCACCTGCGGCCCACCCTCCAAGGAGT... | benign | 292,847 |
Variant on chromosome 19, at position 1219452, affecting STK11 (serine/threonine kinase 11): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTTCTGTGGCGTCTCCTTCTTCGCCTGCCCCTTCCTATGGGCCATCCTTCCAGCTCACCTGCGGCCCACCCTCCAAGGAGTGGGACCCT... | TGCTCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTCGGCCTCCTATAGTGCTGGGAGAAATGAAGTGTCTGCGACAGGGCGGCAGCTGCAGAGGGGGCTGTGCTCTCTGGCCTGTTGTGCCCCACCCTTGTGACAGGCAGGTGGGCGTGGCCAACTGGGCGGCAGCTGCAGAGGGGGCAGTGACAGGCGGGTGGGTGTGGCAGGACCCCACAATGTCTCTTTCTGTGGCGTCTCCTTCTTCGCCTGCCCCTTCCTATGGGCCATCCTTCCAGCTCACCTGCGGCCCACCCTCCAAGGAGTGGGACCCT... | benign | 292,848 |
Considering the genetic mutation at chromosome 19, position 1220355, impacting STK11 (serine/threonine kinase 11): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGGGAGGAGGTACGCCACTTCCACAGGGAGATGGGGAGGCCGACTCCAGGGATCCAGGCCATCATCCTGACGTTGGGTCGGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCC... | AGGGAGGAGGTACGCCACTTCCACAGGGAGATGGGGAGGCCGACTCCAGGGATCCAGGCCATCATCCTGACGTTGGGTCGGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCC... | benign | 292,853 |
Determine if the mutation at chromosome 19, position 1220432 in gene STK11 (serine/threonine kinase 11) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | TCGGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCC... | TCGGCTGATACACCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCC... | pathogenic | 292,877 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 1220444, gene STK11 (serine/threonine kinase 11). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | CCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGC... | CCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGC... | pathogenic | 292,882 |
Classify the chromosome 19 variant at position 1220444 affecting gene STK11 (serine/threonine kinase 11) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | CCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGC... | CCCCTGTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGC... | pathogenic | 292,883 |
Variant at chromosome position 1220449, chromosome 19, gene STK11 (serine/threonine kinase 11): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | GTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTG... | GTCCTCTCTGTCCCAGGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTG... | pathogenic | 292,886 |
Evaluate the clinical significance of the mutation at chromosome 19, position 1220518 in gene STK11 (serine/threonine kinase 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTG... | ATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTG... | benign | 292,916 |
Regarding the variant at chromosome 19 and position 1220519, affecting gene STK11 (serine/threonine kinase 11): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGA... | TGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGA... | benign | 292,917 |
Determine if the mutation at chromosome 19, position 1220519 in gene STK11 (serine/threonine kinase 11) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGA... | TGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACCGCGGGGCCTCCGTGGGAGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGA... | benign | 292,919 |
Mutation found at chromosome 19 position 1220588, gene STK11 (serine/threonine kinase 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | AGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGT... | AGGGGCTGGGGCCCTGGGTCCGCCTGCCTCGAGGCCTGCTCCTCTTCCCGTCTCCTTGAAGGAGACTGGCACACGAGGGCCGTGGCCTTCCCTGGTTCCCCGGAAGTCAGCCATTGTGGCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGT... | pathogenic | 292,932 |
Clinically, how would you classify the variant at chromosome 19, position 1220706, gene STK11 (serine/threonine kinase 11): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Peutz-Jeghers_syndrome'] | GCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGTGGACACCCCCATGGGTCTTACGGGCACAGCCTCCCTACGGGGACTTTGCTTCCTAAGGCCCTGTGCCCAGAGCAAGAGCCAGAAGTGGTCCTGAGGCTGGGGCTGTGTTCCCTGAGCC... | GCAATGGCTGCGCAGCTTGCTGAAAGGGGCCCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGTGGACACCCCCATGGGTCTTACGGGCACAGCCTCCCTACGGGGACTTTGCTTCCTAAGGCCCTGTGCCCAGAGCAAGAGCCAGAAGTGGTCCTGAGGCTGGGGCTGTGTTCCCTGAGCC... | pathogenic | 292,969 |
The chromosome 19, position 1220736 genetic variant in gene STK11 (serine/threonine kinase 11): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGTGGACACCCCCATGGGTCTTACGGGCACAGCCTCCCTACGGGGACTTTGCTTCCTAAGGCCCTGTGCCCAGAGCAAGAGCCAGAAGTGGTCCTGAGGCTGGGGCTGTGTTCCCTGAGCCACGCGGTCAGGGGCCCTGGGACCGTCCTGC... | CCTGAGCCCTGGCCCCTGTGTCTTGGGCCCGTGGGGTGTCAAGTCCCTTTTTTCTCAGAGTCTCCTCCCAGGCTAACCAGGGGTGTAGCCACGGTCTGCCTGAGACAGGCCACGCGGGCTGACCGTTGTGGGCCATTTTGGTCGTGGCTGGGCGTGTCCTCGTGTCATCTGTGGACACCCCCATGGGTCTTACGGGCACAGCCTCCCTACGGGGACTTTGCTTCCTAAGGCCCTGTGCCCAGAGCAAGAGCCAGAAGTGGTCCTGAGGCTGGGGCTGTGTTCCCTGAGCCACGCGGTCAGGGGCCCTGGGACCGTCCTGC... | benign | 292,986 |
Determine if the mutation at chromosome 19, position 1221246 in gene STK11 (serine/threonine kinase 11) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Peutz-Jeghers_syndrome', 'likely other unspecified diseases'] | GGCCCTGGTCCCGAGGAGGGGCAAGGTGGGTGCAGAGGGTCCCTCCAGAGCCCCTTTTCTGGCCCCCGTGCTCCCTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACAT... | GGCCCTGGTCCCGAGGAGGGGCAAGGTGGGTGCAGAGGGTCCCTCCAGAGCCCCTTTTCTGGCCCCCGTGCTCCCTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACAT... | pathogenic | 293,013 |
Variant on chromosome 19, at position 1221264, affecting STK11 (serine/threonine kinase 11): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | GGGCAAGGTGGGTGCAGAGGGTCCCTCCAGAGCCCCTTTTCTGGCCCCCGTGCTCCCTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTT... | GGGCAAGGTGGGTGCAGAGGGTCCCTCCAGAGCCCCTTTTCTGGCCCCCGTGCTCCCTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTT... | pathogenic | 293,019 |
Considering the variant on chromosome 19, location 1221314, involving gene STK11 (serine/threonine kinase 11), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | TGCTCCCTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCG... | TGCTCCCTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCG... | pathogenic | 293,034 |
Evaluate the clinical significance of the mutation at chromosome 19, position 1221314 in gene STK11 (serine/threonine kinase 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_ovarian_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma', 'Peutz-Jeghers_syndrome'] | TGCTCCCTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCG... | TGCTCCCTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCG... | pathogenic | 293,035 |
Does the variant impacting STK11 (serine/threonine kinase 11) on chromosome 19, position 1221320, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | CTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGG... | CTGGGCCTGTGAGTGGGGCCGCCCCCTGAGCTGTGTGTCCTTAGCGCCCCACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGG... | pathogenic | 293,040 |
Is the genetic change at chromosome 19, position 1221983, within gene STK11 (serine/threonine kinase 11) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Peutz-Jeghers_syndrome'] | TTTGCTGGGCCTGCTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGA... | TTTGCTGGGCCTGCTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGA... | pathogenic | 293,076 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 1221994, gene STK11 (serine/threonine kinase 11). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | TGCTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACT... | TGCTGCCTGAGGCCAGTGGCCTGCTTCCAGCCCATCGCTGGCAGCCGCCTGCCCTGACCAGATCTCCTGGATGCAGGTCTGTGGCCTCAGAGTCAGGGCCCCTTGCTGCTGCAGGACCACAGGGGCAGGGAGGGGCCTGCTGTTCCAGCAAGACTTTGGGGTGCAGCCGGCCTGTGGCCCACAGGAAAATGAGACCTGTGGACATCCGGGGCCCTGCCAGACGTGGCTCGGCCGGACGAGGGTGGCCACTGCAGGCGCAGGTGTGGCTCCCTGCTGGACCTAGCCTTTCCTCTGTCCTGTGTGCCTGGACTTCTGTGACT... | pathogenic | 293,080 |
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