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 |
|---|---|---|---|---|---|
Assess the variant on chromosome 10, position 99847051, impacting ABCC2 (ATP binding cassette subfamily C member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Dubin-Johnson_syndrome', 'Inborn_genetic_diseases'] | CATTTTTCTTTTTTCTTTATTTTTATTTATTTATTTATTTATTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTTCTGACTCAGACTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGTCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATATTGACCAGGCTGGTCTTGAACTCCTGAACTCAGGTGATCTGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCACC... | CATTTTTCTTTTTTCTTTATTTTTATTTATTTATTTATTTATTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTTCTGACTCAGACTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGTCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATATTGACCAGGCTGGTCTTGAACTCCTGAACTCAGGTGATCTGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCACC... | pathogenic | 166,834 |
Does the chromosome 10 mutation at position 100749770 within gene PAX2 (paired box 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'Renal_coloboma_syndrome'] | CAAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCG... | CAAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCG... | pathogenic | 166,945 |
Variant in PAX2 (paired box 2), chromosome 10, position 100749771—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Congenital_anomaly_of_kidney_and_urinary_tract', 'Focal_segmental_glomerulosclerosis', 'Focal_segmental_glomerulosclerosis_7', 'Glomerular_sclerosis', 'PAX2-related_disorder', 'Renal_coloboma_syndrome', 'Steroid-resistant_nephrotic_syndrome'] | AAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGA... | AAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGA... | pathogenic | 166,946 |
Considering the variant on chromosome 10, location 100749771, involving gene PAX2 (paired box 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'PAX2-related_disorder', 'Renal_coloboma_syndrome'] | AAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGA... | AAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGA... | pathogenic | 166,947 |
Considering the variant on chromosome 10, location 100750699, involving gene PAX2 (paired box 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'Renal_coloboma_syndrome'] | CAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTC... | CAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTC... | pathogenic | 166,954 |
The mutation in gene PAX2 (paired box 2) at chromosome 10, position 100779569—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'Renal_coloboma_syndrome'] | AATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACTTTGGAGGTGGTTGTGCGAATTAACAGTAATATATATGTCATATAAATTGTGTATAATATTGGCA... | AATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACTTTGGAGGTGGTTGTGCGAATTAACAGTAATATATATGTCATATAAATTGTGTATAATATTGGCA... | pathogenic | 166,968 |
Variant at chromosome 10, position 100806603, gene PAX2 (paired box 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'Renal_coloboma_syndrome'] | GAAATGAGGATGATGGCACATCCTGAAAAAAGAAGTAGGCACAGGAGAAACGGGGCATGTGGCCTCACAGTCCTCATGCAATCACACACAGACACACACATTCTTTCAGGAAGCTTCTCATTCTATTTCCACACACGCAGACCCTTGTTTATCTGGACGTTTATATATGTACAAGCGCGTAGACACGCAATACTCACACAAAAGGGAAAAATAAATTTACCACACTTCAACTTTCAACTCATATGTTGATGCATACATCCCGTAAGACTGAAATGATTCCAGAGCCTTATGCAGAAGAAACCACAACCACCAAGTTTTGT... | GAAATGAGGATGATGGCACATCCTGAAAAAAGAAGTAGGCACAGGAGAAACGGGGCATGTGGCCTCACAGTCCTCATGCAATCACACACAGACACACACATTCTTTCAGGAAGCTTCTCATTCTATTTCCACACACGCAGACCCTTGTTTATCTGGACGTTTATATATGTACAAGCGCGTAGACACGCAATACTCACACAAAAGGGAAAAATAAATTTACCACACTTCAACTTTCAACTCATATGTTGATGCATACATCCCGTAAGACTGAAATGATTCCAGAGCCTTATGCAGAAGAAACCACAACCACCAAGTTTTGT... | pathogenic | 166,975 |
Evaluate if the mutation on chromosome 10 at position 100809183 in PAX2 (paired box 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Focal_segmental_glomerulosclerosis_7'] | TTACACCCAACACTTTCTGCAGACACTGAGCAGCCCAGGACACATAGCATGGGGCACAGCATGTAACACACCAGCAAAACGCACAACGCAGAAACCATCTCCGAACTTTTCTATGTGCTGGTGTGCATGTGCTCACACTCCACCATCCACCTGCTCCCCTCACCCACAGCCCATGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGTTCCCTCACCCAC... | TTACACCCAACACTTTCTGCAGACACTGAGCAGCCCAGGACACATAGCATGGGGCACAGCATGTAACACACCAGCAAAACGCACAACGCAGAAACCATCTCCGAACTTTTCTATGTGCTGGTGTGCATGTGCTCACACTCCACCATCCACCTGCTCCCCTCACCCACAGCCCATGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGTTCCCTCACCCAC... | pathogenic | 166,984 |
Variant in TWNK (twinkle mtDNA helicase), chromosome 10, position 100987903—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACAACAGTTCAAGAATTCTTACAGGGGTTTCTAGATTTTCATTTCCTGCCTCTCATTTCCCCACCATCCCCCCTTTTTAAACTAAGATTAGAAAATACTCATTAATATCAGCCTTCCTGCCCTTCCCCAAGGTTCTCAGCACCCCCCACCAGCTGGCTCAAGGGACATGGATTTTATTTCTGCACAAAGAGGGACGTGGGGGGAAGGAGATGTATAGCTAAGACCAGAGAAAGCTTGTCAGCCAGGACTTGGTCTGAGAATCACTCCCCTCTCCCTTTCAGGGGTCAGGCCTAGATTAATCACTTGGCCTTTGATACTAA... | ACAACAGTTCAAGAATTCTTACAGGGGTTTCTAGATTTTCATTTCCTGCCTCTCATTTCCCCACCATCCCCCCTTTTTAAACTAAGATTAGAAAATACTCATTAATATCAGCCTTCCTGCCCTTCCCCAAGGTTCTCAGCACCCCCCACCAGCTGGCTCAAGGGACATGGATTTTATTTCTGCACAAAGAGGGACGTGGGGGGAAGGAGATGTATAGCTAAGACCAGAGAAAGCTTGTCAGCCAGGACTTGGTCTGAGAATCACTCCCCTCTCCCTTTCAGGGGTCAGGCCTAGATTAATCACTTGGCCTTTGATACTAA... | benign | 167,001 |
Is the genetic change at chromosome 10, position 100989860, within gene TWNK (twinkle mtDNA helicase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | ACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCC... | ACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCC... | pathogenic | 167,027 |
Is the genetic change at chromosome 10, position 101009275, within gene PDZD7 (PDZ domain containing 7) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | ACTTAGGCCCCAGGGTCCACGGATGGCCCCAAAGGCTGAGGGCCCCAAAGCCACTTGTCTCCTAGGATCCAGGCCTCTGGGCTTCTGCCAAGAACTCAGGGTGGCCCTATGACTTGGAGGAGCAAGATCAGACCGCTCAAAGGTCCCCGTGTTCACTGTTACCCAGAGGCTCTTGTTACTACCCACTTCATTCCCCACCGCTGCCAGTGCCACTGCCAACCCTGTTCACAGGCGCTTCCAGCCCACTCCAGCCAGGGGAGCAGGGAAGAAGAAGGGGCTCCCTCCTCTTCACATTCCCCCCGACCCCAAAGCCAGAGAAA... | ACTTAGGCCCCAGGGTCCACGGATGGCCCCAAAGGCTGAGGGCCCCAAAGCCACTTGTCTCCTAGGATCCAGGCCTCTGGGCTTCTGCCAAGAACTCAGGGTGGCCCTATGACTTGGAGGAGCAAGATCAGACCGCTCAAAGGTCCCCGTGTTCACTGTTACCCAGAGGCTCTTGTTACTACCCACTTCATTCCCCACCGCTGCCAGTGCCACTGCCAACCCTGTTCACAGGCGCTTCCAGCCCACTCCAGCCAGGGGAGCAGGGAAGAAGAAGGGGCTCCCTCCTCTTCACATTCCCCCCGACCCCAAAGCCAGAGAAA... | pathogenic | 167,049 |
The genetic variant at chromosome 10, position 101009348, affecting gene PDZD7 (PDZ domain containing 7): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | CCTCTGGGCTTCTGCCAAGAACTCAGGGTGGCCCTATGACTTGGAGGAGCAAGATCAGACCGCTCAAAGGTCCCCGTGTTCACTGTTACCCAGAGGCTCTTGTTACTACCCACTTCATTCCCCACCGCTGCCAGTGCCACTGCCAACCCTGTTCACAGGCGCTTCCAGCCCACTCCAGCCAGGGGAGCAGGGAAGAAGAAGGGGCTCCCTCCTCTTCACATTCCCCCCGACCCCAAAGCCAGAGAAAGCCAGATGGCACCAGCTGCTCCGGATGTGCCTGCCCACATTGGGGGACAGGGCCGGGCCTGGGCTCGGTTCCC... | CCTCTGGGCTTCTGCCAAGAACTCAGGGTGGCCCTATGACTTGGAGGAGCAAGATCAGACCGCTCAAAGGTCCCCGTGTTCACTGTTACCCAGAGGCTCTTGTTACTACCCACTTCATTCCCCACCGCTGCCAGTGCCACTGCCAACCCTGTTCACAGGCGCTTCCAGCCCACTCCAGCCAGGGGAGCAGGGAAGAAGAAGGGGCTCCCTCCTCTTCACATTCCCCCCGACCCCAAAGCCAGAGAAAGCCAGATGGCACCAGCTGCTCCGGATGTGCCTGCCCACATTGGGGGACAGGGCCGGGCCTGGGCTCGGTTCCC... | pathogenic | 167,051 |
Assess the variant on chromosome 10, position 101010536, impacting PDZD7 (PDZ domain containing 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCT... | TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCT... | benign | 167,055 |
Is the chromosome 10, position 101010536 variant in PDZD7 (PDZ domain containing 7) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCT... | TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCT... | benign | 167,056 |
Variant on chromosome 10, at position 101010536, affecting PDZD7 (PDZ domain containing 7): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCT... | TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCT... | benign | 167,057 |
Located at chromosome 10 position 101010540, the variant affecting gene PDZD7 (PDZ domain containing 7)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTC... | GGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTC... | benign | 167,058 |
Is the variant located on chromosome 10 at position 101010677, gene PDZD7 (PDZ domain containing 7), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hearing_loss,_autosomal_recessive', 'Nonsyndromic_genetic_hearing_loss'] | AAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGA... | AAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGA... | pathogenic | 167,065 |
Assess the variant on chromosome 10, position 101010799, impacting PDZD7 (PDZ domain containing 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hearing_loss,_autosomal_recessive_57', 'Inborn_genetic_diseases'] | GGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCA... | GGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCA... | pathogenic | 167,069 |
For chromosome 10, position 101015592, gene PDZD7 (PDZ domain containing 7): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CAAAGGTGGTGTGGAAAAACGAGTAGATAGTGGTTTAAACGTGGCCATGGGGTCCATGAAGAGCCTCCCTGCAGGGCTGCTGCACAGGCTGTGACTATATGAGTAGCGTCTCTGAGGTTGTGCAGGTTGTAACCTGTATAAACCTATGCGGCGGCCGTGGGAAAGTGGAGGTTGGTGGGTTAGGGAGTTGAATCTGGGAGGACCTCGAATGTGAGAGCCAAAGACAATGGGTCACCTCTGCCAAAGACAATGGGTCACCAGGTGGCCTGGGGAGTGTACAGCGATCAGACAGGGGTTTCTTTTCTTTCTTTTTTTTTTTT... | CAAAGGTGGTGTGGAAAAACGAGTAGATAGTGGTTTAAACGTGGCCATGGGGTCCATGAAGAGCCTCCCTGCAGGGCTGCTGCACAGGCTGTGACTATATGAGTAGCGTCTCTGAGGTTGTGCAGGTTGTAACCTGTATAAACCTATGCGGCGGCCGTGGGAAAGTGGAGGTTGGTGGGTTAGGGAGTTGAATCTGGGAGGACCTCGAATGTGAGAGCCAAAGACAATGGGTCACCTCTGCCAAAGACAATGGGTCACCAGGTGGCCTGGGGAGTGTACAGCGATCAGACAGGGGTTTCTTTTCTTTCTTTTTTTTTTTT... | benign | 167,082 |
Gene PDZD7 (PDZ domain containing 7) variant at chromosome 10, position 101019032—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | ATCCGACATCCACCCCCCTCTTCTGAAAACAGCACCCTGATTTTCCCCTGGGGACCCACCCCACTCTGTTCTTAGCCCGTGTACTCCAGGGTGGGTACATGACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATG... | ATCCGACATCCACCCCCCTCTTCTGAAAACAGCACCCTGATTTTCCCCTGGGGACCCACCCCACTCTGTTCTTAGCCCGTGTACTCCAGGGTGGGTACATGACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATG... | pathogenic | 167,095 |
For chromosome 10, position 101019133, gene PDZD7 (PDZ domain containing 7): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Usher_syndrome_type_2A'] | ACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATGGAGGGGGACAGATGTCTGATGATGTTGCTCAGATGTTTAGACCCAGCTTAAATCAGCAGCTGAGCCAAGACGTGCTTTATTTTTCTTTTACTTTTTTTTTT... | ACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATGGAGGGGGACAGATGTCTGATGATGTTGCTCAGATGTTTAGACCCAGCTTAAATCAGCAGCTGAGCCAAGACGTGCTTTATTTTTCTTTTACTTTTTTTTTT... | pathogenic | 167,097 |
Classify the chromosome 10 variant at position 101020597 affecting gene PDZD7 (PDZ domain containing 7) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ACTGTGTGTGTAAATAGGCCTGGGAACTCCAGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGT... | ACTGTGTGTGTAAATAGGCCTGGGAACTCCAGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGT... | benign | 167,106 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 101020627, gene PDZD7 (PDZ domain containing 7). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hearing_loss,_autosomal_recessive_57'] | AGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTG... | AGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTG... | pathogenic | 167,108 |
Gene PDZD7 (PDZ domain containing 7) variant at chromosome position 101030053 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hearing_loss,_autosomal_recessive', 'Hearing_loss,_autosomal_recessive_57', 'Usher_syndrome_type_2A', 'Usher_syndrome_type_2C'] | GCAATGTCACCGTTTATTCCTTATCAGTTACTTTACTCCCCGGGAGTGATCTAAATAATAACATGGGGCAGGGTTCCAGGCTGCGGTGACTTGGGAGATACCTGTTCTCAGGCAGAGGGGAGAATTCTGAGCTCAGAGGGTCCCAGTCCAGTCAGAGGAGAAGCCAAGTGGTCAGAGCAACTCCTCAGTCCCTCACTGCTAGGAGATGCTGCTTCCTTGGCTGCACAGTGGCGCTAGCATGAGGCAGAGGGAGAAAGCAATCATGAAACCCCTGGAAGAGGATCTTTAGAGGGACAGTATAGGCCAGGCATGGTGGCTCA... | GCAATGTCACCGTTTATTCCTTATCAGTTACTTTACTCCCCGGGAGTGATCTAAATAATAACATGGGGCAGGGTTCCAGGCTGCGGTGACTTGGGAGATACCTGTTCTCAGGCAGAGGGGAGAATTCTGAGCTCAGAGGGTCCCAGTCCAGTCAGAGGAGAAGCCAAGTGGTCAGAGCAACTCCTCAGTCCCTCACTGCTAGGAGATGCTGCTTCCTTGGCTGCACAGTGGCGCTAGCATGAGGCAGAGGGAGAAAGCAATCATGAAACCCCTGGAAGAGGATCTTTAGAGGGACAGTATAGGCCAGGCATGGTGGCTCA... | pathogenic | 167,122 |
The chromosome 10, position 101774750 genetic variant in gene FGF8 (fibroblast growth factor 8): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | CAGGGGTTTGGGGCATCGAGGTCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGC... | CAGGGGTTTGGGGCATCGAGGTCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGC... | pathogenic | 167,169 |
Benign or pathogenic: chromosome 10, position 102065500, gene HPS6 variant? Disease(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome_6'] | GACCAGCCTGGCCAACCAACATAGCAAAACCCGACCTCTACTAAAAATATAAAAAGTAGCTGGGCATGGTGGTGCACTTCTGAAATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGC... | GACCAGCCTGGCCAACCAACATAGCAAAACCCGACCTCTACTAAAAATATAAAAAGTAGCTGGGCATGGTGGTGCACTTCTGAAATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGC... | pathogenic | 167,176 |
A mutation at chromosome position 102065523 on chromosome 10 in gene HPS6: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['HPS6-related_disorder', 'Hermansky-Pudlak_syndrome'] | GCAAAACCCGACCTCTACTAAAAATATAAAAAGTAGCTGGGCATGGTGGTGCACTTCTGAAATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTG... | GCAAAACCCGACCTCTACTAAAAATATAAAAAGTAGCTGGGCATGGTGGTGCACTTCTGAAATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTG... | pathogenic | 167,177 |
Is the genetic variant on chromosome 10, position 102065628, gene HPS6, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_6'] | AACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTG... | AACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTG... | pathogenic | 167,181 |
Evaluate if the mutation on chromosome 10 at position 102065755 in HPS6 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome'] | CAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTA... | CAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTA... | pathogenic | 167,183 |
Is the genetic variant on chromosome 10, position 102065939, gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hermansky-Pudlak_syndrome_6'] | GTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGT... | GTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGT... | pathogenic | 167,186 |
Is the genetic change at chromosome 10, position 102066033, within gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome_6'] | ATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACG... | ATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACG... | pathogenic | 167,188 |
Variant in gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3), located at chromosome 10 position 102066175: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['HPS6-related_disorder', 'Hermansky-Pudlak_syndrome'] | CAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGA... | CAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGA... | pathogenic | 167,193 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 102066527, gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3). What disease(s) is it linked to if pathogenic? | pathogenic | GTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCT... | GTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCT... | pathogenic | 167,197 |
Regarding the variant at chromosome 10 and position 102067118, affecting gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hermansky-Pudlak_syndrome'] | TCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCT... | TCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCT... | pathogenic | 167,204 |
Assess the variant on chromosome 10, position 102067142, impacting HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hermansky-Pudlak_syndrome_6'] | AATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGC... | AATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGC... | pathogenic | 167,205 |
Determine whether the variant at chromosome 10, position 102067160, in gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic | TCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGC... | TCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGC... | pathogenic | 167,206 |
Gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3) variant at chromosome position 102067185 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_6'] | GCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCG... | GCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCG... | pathogenic | 167,208 |
Chromosome 10, position 102230766, gene PITX3: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['ANTERIOR_SEGMENT_DYSGENESIS_1,_MULTIPLE_SUBTYPES', 'Cataract_11,_posterior_polar', 'Cataract_11_multiple_types', 'PITX3-related_disorder'] | AAAGACCCCCTTCCCTCCCCTGAGAATTTCTCCCGTGTCCCTACATCCAGTGCAGAGGGTGGTCCCAGCACTGGGTGGTATGCCAACTATGACTCTCCATCTCCCAGGAGACACAGCCTTCATCATCCTGCGTAAGCGGCCACTCATCTTTATTCACTGGTACCACCACAGCACAGTGCTCGTGTACACAAGCTTTGGATACAAGAACAAAGTGCCTGCAGGAGGCTGGTTCGTCACCATGAACTTTGGTGTTCATGCCATCATGTACACCTACTACACTCTGAAGGCTGCCAACGTGAAGCCCCCCAAGATGCTGCCCA... | AAAGACCCCCTTCCCTCCCCTGAGAATTTCTCCCGTGTCCCTACATCCAGTGCAGAGGGTGGTCCCAGCACTGGGTGGTATGCCAACTATGACTCTCCATCTCCCAGGAGACACAGCCTTCATCATCCTGCGTAAGCGGCCACTCATCTTTATTCACTGGTACCACCACAGCACAGTGCTCGTGTACACAAGCTTTGGATACAAGAACAAAGTGCCTGCAGGAGGCTGGTTCGTCACCATGAACTTTGGTGTTCATGCCATCATGTACACCTACTACACTCTGAAGGCTGCCAACGTGAAGCCCCCCAAGATGCTGCCCA... | pathogenic | 167,220 |
Mutation found at chromosome 10 position 102230766, gene PITX3: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Anterior_segment_dysgenesis_1', 'Cataract_11_multiple_types'] | AAAGACCCCCTTCCCTCCCCTGAGAATTTCTCCCGTGTCCCTACATCCAGTGCAGAGGGTGGTCCCAGCACTGGGTGGTATGCCAACTATGACTCTCCATCTCCCAGGAGACACAGCCTTCATCATCCTGCGTAAGCGGCCACTCATCTTTATTCACTGGTACCACCACAGCACAGTGCTCGTGTACACAAGCTTTGGATACAAGAACAAAGTGCCTGCAGGAGGCTGGTTCGTCACCATGAACTTTGGTGTTCATGCCATCATGTACACCTACTACACTCTGAAGGCTGCCAACGTGAAGCCCCCCAAGATGCTGCCCA... | AAAGACCCCCTTCCCTCCCCTGAGAATTTCTCCCGTGTCCCTACATCCAGTGCAGAGGGTGGTCCCAGCACTGGGTGGTATGCCAACTATGACTCTCCATCTCCCAGGAGACACAGCCTTCATCATCCTGCGTAAGCGGCCACTCATCTTTATTCACTGGTACCACCACAGCACAGTGCTCGTGTACACAAGCTTTGGATACAAGAACAAAGTGCCTGCAGGAGGCTGGTTCGTCACCATGAACTTTGGTGTTCATGCCATCATGTACACCTACTACACTCTGAAGGCTGCCAACGTGAAGCCCCCCAAGATGCTGCCCA... | pathogenic | 167,221 |
Regarding the variant found on chromosome 10 at position 102397405 in gene NFKB2 (nuclear factor kappa B subunit 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CCCCCGGGGTTTATCAGCCGTGGCCTCCCTCCTGGCAGAAAATCCCAAGGTTGCTCCAGACCGGGGGAGGGGAGCGGGAGGCGGACTTGGCCCCAGACTGCCAGCCTCCTCCCGGCCGTGAAAGACCCTCCTGTTCCCTGCCCTGGAGGGAGGAGGGGGCTTAACCCCCACCGGGGCTTCCCGGATTCTCCTAGACCTCTGCCCGCTGAAAAGCAGCGGGAGCCCGTAGACTGTCGAGGGCCTCCCGCCCCTCCCGTCGCGAGGGCGGGGCCAGTGGCGTCATTTCCAGGCCCGCCCCCTCCGGCCCCGCCTCCCCTTGG... | CCCCCGGGGTTTATCAGCCGTGGCCTCCCTCCTGGCAGAAAATCCCAAGGTTGCTCCAGACCGGGGGAGGGGAGCGGGAGGCGGACTTGGCCCCAGACTGCCAGCCTCCTCCCGGCCGTGAAAGACCCTCCTGTTCCCTGCCCTGGAGGGAGGAGGGGGCTTAACCCCCACCGGGGCTTCCCGGATTCTCCTAGACCTCTGCCCGCTGAAAAGCAGCGGGAGCCCGTAGACTGTCGAGGGCCTCCCGCCCCTCCCGTCGCGAGGGCGGGGCCAGTGGCGTCATTTCCAGGCCCGCCCCCTCCGGCCCCGCCTCCCCTTGG... | benign | 167,232 |
Is the chromosome 10, position 102504174 variant in SUFU clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | CTGGAGCACTGCCCCGCCCCTTCAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTA... | CTGGAGCACTGCCCCGCCCCTTCAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTA... | pathogenic | 167,268 |
Regarding the variant at chromosome 10 and position 102504174, affecting gene SUFU: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Gorlin_syndrome', 'Medulloblastoma'] | CTGGAGCACTGCCCCGCCCCTTCAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTA... | CTGGAGCACTGCCCCGCCCCTTCAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTA... | pathogenic | 167,269 |
Variant in SUFU, chromosome 10, position 102504216—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | CGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCC... | CGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCC... | pathogenic | 167,280 |
Chromosome 10, position 102504216, gene SUFU: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Basal_cell_nevus_syndrome_2', 'Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | CGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCC... | CGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCC... | pathogenic | 167,281 |
The mutation impacting SUFU (SUFU negative regulator of hedgehog signaling) on chromosome 10 at position 102592711: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | AGTTGATATTAATTCTTCTCTAAATCTTTGGCAGAATTTACCAGTGGAGTCATCTGGTGGACCTGGACTGTTTGTATTGTGTATGTTGTTGGTGGGGGTTAATTACTTATTCATTCCTTTTACCTGTTGCATTGTTTCTTGCTTGCAGAACATGCAGGTTGCTTGTAGAAACACACTTACGTAAAAGGAGAGAGATTCTGGGAAGAGTGGGCCTAGCAGGAATTTGGAAATTTAGGGGTTTCTAGTTGGCTCTACCTGAAGCTGTGCCTTCTCCTCTCCCCTGTATTATCACATCTCAGATGAAGCAGTCTTCCTTCTCC... | AGTTGATATTAATTCTTCTCTAAATCTTTGGCAGAATTTACCAGTGGAGTCATCTGGTGGACCTGGACTGTTTGTATTGTGTATGTTGTTGGTGGGGGTTAATTACTTATTCATTCCTTTTACCTGTTGCATTGTTTCTTGCTTGCAGAACATGCAGGTTGCTTGTAGAAACACACTTACGTAAAAGGAGAGAGATTCTGGGAAGAGTGGGCCTAGCAGGAATTTGGAAATTTAGGGGTTTCTAGTTGGCTCTACCTGAAGCTGTGCCTTCTCCTCTCCCCTGTATTATCACATCTCAGATGAAGCAGTCTTCCTTCTCC... | pathogenic | 167,354 |
Does the genetic variant at chromosome 10, position 102597223, impacting gene SUFU (SUFU negative regulator of hedgehog signaling), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | CACAGGCAGTTGCCGGGAGTTCCATGTGTTAGAGCAAGAGAAAGGTGGCAGATGGACATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTG... | CACAGGCAGTTGCCGGGAGTTCCATGTGTTAGAGCAAGAGAAAGGTGGCAGATGGACATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTG... | pathogenic | 167,400 |
Is the genetic variant on chromosome 10, position 102597278, gene SUFU (SUFU negative regulator of hedgehog signaling), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'SUFU-related_disorder'] | ACATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTC... | ACATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTC... | pathogenic | 167,417 |
A mutation at chromosome position 102597279 on chromosome 10 in gene SUFU (SUFU negative regulator of hedgehog signaling): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | CATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCC... | CATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCC... | pathogenic | 167,419 |
Is the genetic change at chromosome 10, position 102597280, within gene SUFU (SUFU negative regulator of hedgehog signaling) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCT... | ATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCT... | pathogenic | 167,420 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 102599537, gene SUFU (SUFU negative regulator of hedgehog signaling). What disease(s) is it linked to if pathogenic? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | GTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGT... | GTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGT... | pathogenic | 167,440 |
Determine if the mutation at chromosome 10, position 102599540 in gene SUFU (SUFU negative regulator of hedgehog signaling) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | TCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGG... | TCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGG... | pathogenic | 167,443 |
Variant in gene SUFU (SUFU negative regulator of hedgehog signaling), located at chromosome 10 position 102615366: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma'] | GAGGAAGGGACCGCTTTGTGAAGGAACAGTCAGATCCAGGAGTGAGTCCTCACAAGGAGAAGGCCAGCAGGCAGGCACGGCCCATGACCTCAGGGGCACGTCTAACCCACTGCCGCCACAGGGCCATCCTCTGTCTTTGGCCTGCGGACCCTACACCTTCCCCTGGGGAGGTGCCCTGCCTGTTGGGGTGCCACCCTGGCTGCAGGCCCCAGCACCTAGCCCCGCAACGTGTGAGGAGGTTGGGCCTGCCCCTCAGTGGCTGTCTGGCTGTCATCCTGGGTGGCTCCTGCCTGCCACTTGAATGATAAATAACTAGAGCT... | GAGGAAGGGACCGCTTTGTGAAGGAACAGTCAGATCCAGGAGTGAGTCCTCACAAGGAGAAGGCCAGCAGGCAGGCACGGCCCATGACCTCAGGGGCACGTCTAACCCACTGCCGCCACAGGGCCATCCTCTGTCTTTGGCCTGCGGACCCTACACCTTCCCCTGGGGAGGTGCCCTGCCTGTTGGGGTGCCACCCTGGCTGCAGGCCCCAGCACCTAGCCCCGCAACGTGTGAGGAGGTTGGGCCTGCCCCTCAGTGGCTGTCTGGCTGTCATCCTGGGTGGCTCCTGCCTGCCACTTGAATGATAAATAACTAGAGCT... | pathogenic | 167,461 |
The mutation impacting SUFU (SUFU negative regulator of hedgehog signaling) on chromosome 10 at position 102627189: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Gorlin_syndrome', 'Medulloblastoma'] | GGGAGGACACCCCTGGGATAAGAGAGTAGGAGGAGCAAGGGCTTAGGCTGTGAGAGGGAGTACGTGTATGGCTGGAGTCTGTGGGCAGAGTCGGCCAGTCCCACTTTGGGGAATTAGGAAGAACTGTAGGGGTGCACCTCCCCGAACTTTGCCAACTTTGCCTCTCCTGCTCTGTCTCTAAGCCTTGTCTCTGTCCTTGGTCGGGGCCCTAGCTCCTAGAACAGAGAGTTTGGTGAGGAGACGTGGACCAGTGGTCAGAGTTATTTTGTTCCTGCTATGGGCTTGGAGCCTGGGAAGGCTGGGTCTCTTGTCTCCTTGCC... | GGGAGGACACCCCTGGGATAAGAGAGTAGGAGGAGCAAGGGCTTAGGCTGTGAGAGGGAGTACGTGTATGGCTGGAGTCTGTGGGCAGAGTCGGCCAGTCCCACTTTGGGGAATTAGGAAGAACTGTAGGGGTGCACCTCCCCGAACTTTGCCAACTTTGCCTCTCCTGCTCTGTCTCTAAGCCTTGTCTCTGTCCTTGGTCGGGGCCCTAGCTCCTAGAACAGAGAGTTTGGTGAGGAGACGTGGACCAGTGGTCAGAGTTATTTTGTTCCTGCTATGGGCTTGGAGCCTGGGAAGGCTGGGTCTCTTGTCTCCTTGCC... | pathogenic | 167,497 |
Chromosome 10, position 102830761, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_complete', 'Deficiency_of_steroid_17-alpha-monooxygenase'] | AGGTGCCTGCCACCACGCCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTAGTCTAGAACTCCACACCTCAGGCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTAT... | AGGTGCCTGCCACCACGCCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTAGTCTAGAACTCCACACCTCAGGCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTAT... | pathogenic | 167,549 |
Determine whether the variant at chromosome 10, position 102830790, in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_complete', 'Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_17-alpha-monooxygenase'] | TTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTAGTCTAGAACTCCACACCTCAGGCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGG... | TTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTAGTCTAGAACTCCACACCTCAGGCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGG... | pathogenic | 167,551 |
A genetic alteration at chromosome 10, position 102830857, in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase'] | GCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAG... | GCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAG... | pathogenic | 167,552 |
A genetic variant on chromosome 10, position 102832663, affects the gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['CYP17A1-related_disorder', 'Deficiency_of_steroid_17-alpha-monooxygenase'] | AGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAAT... | AGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAAT... | pathogenic | 167,586 |
A mutation at chromosome position 102832668 on chromosome 10 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_17-alpha-monooxygenase'] | GGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTT... | GGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTT... | pathogenic | 167,587 |
The mutation impacting CYP17A1 on chromosome 10 at position 102833092: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase'] | TCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGG... | TCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGG... | pathogenic | 167,590 |
The mutation impacting CYP17A1 on chromosome 10 at position 102834108: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase'] | TTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGAT... | TTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGAT... | pathogenic | 167,596 |
Is chromosome 10, position 102834113, gene CYP17A1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['CYP17A1-related_disorder', 'Deficiency_of_steroid_17-alpha-monooxygenase'] | ATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTT... | ATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTT... | pathogenic | 167,597 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 102834131, gene CYP17A1: what disease(s) if pathogenic? | pathogenic; ['17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_complete', 'Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_17-alpha-monooxygenase'] | ATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGA... | ATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGA... | pathogenic | 167,598 |
Evaluate the clinical significance of the mutation at chromosome 10, position 102835353 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase'] | CTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAAT... | CTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAAT... | pathogenic | 167,610 |
Clinically, how would you classify the variant at chromosome 10, position 102835353, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_17-alpha-monooxygenase'] | CTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAAT... | CTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAAT... | pathogenic | 167,611 |
Clinical classification of chromosome 10, position 102835362, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase'] | GGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTT... | GGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTT... | pathogenic | 167,612 |
Mutation found at chromosome 10 position 102837184, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase'] | GCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACC... | GCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACC... | pathogenic | 167,626 |
The chromosome 10, position 102837184 genetic variant in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase'] | GCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACC... | GCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACC... | pathogenic | 167,627 |
Evaluate this variant at chromosome 10, position 102837199, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_partial', 'Deficiency_of_steroid_17-alpha-monooxygenase'] | CATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTT... | CATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTT... | pathogenic | 167,628 |
Clinical classification of chromosome 10, position 103105781, gene NT5C2 (5'-nucleotidase, cytosolic II): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_45'] | TCATTAGCAAAGCCTGATGGAGTCCTTCTTTTCCAGCCTTGTCTACCACTGTAATAGCTTCGATAACTTTCTTTCCCTCTATCTTCAGTCTCTTCTTTTCATGGGAATTTTAATTTTATTAATTTATTTTTATTTTTTTGAGATAGGGTCTTGCTCTGTTACACAGGCTGTACTACAGTGGCACCAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCACTCCTCCTGCCTCAGTCTCCCATATAGCTGGGACCAAAGGCATGTACCACCATGCCCAGCTAATTTTTGATATTTGTAGAGATAGGGTTTCACTT... | TCATTAGCAAAGCCTGATGGAGTCCTTCTTTTCCAGCCTTGTCTACCACTGTAATAGCTTCGATAACTTTCTTTCCCTCTATCTTCAGTCTCTTCTTTTCATGGGAATTTTAATTTTATTAATTTATTTTTATTTTTTTGAGATAGGGTCTTGCTCTGTTACACAGGCTGTACTACAGTGGCACCAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCACTCCTCCTGCCTCAGTCTCCCATATAGCTGGGACCAAAGGCATGTACCACCATGCCCAGCTAATTTTTGATATTTGTAGAGATAGGGTTTCACTT... | pathogenic | 167,699 |
Is chromosome 10, position 104033952, gene COL17A1 (collagen type XVII alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['COL17A1-related_disorder', 'Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy'] | AACTTTTATGTAACTGGCTTTCCTAGGCTGGGGCTTGAACTAAGTAAAGAAGCCAAGGAGTTCAGATCTAGATAGCAGAGAAGTAAGTCTCATTCTAAAACATTGCAACTACTGTTAGAGTCCACCCCATGAAGCTGTTTCAGATTGTGTATCTTTGACTGAATTCTATAAGTATATATTGTTCAGACTAAAACAAATGTTGCTAGCTAGGTTGGCTGTGCTGTCTCAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTG... | AACTTTTATGTAACTGGCTTTCCTAGGCTGGGGCTTGAACTAAGTAAAGAAGCCAAGGAGTTCAGATCTAGATAGCAGAGAAGTAAGTCTCATTCTAAAACATTGCAACTACTGTTAGAGTCCACCCCATGAAGCTGTTTCAGATTGTGTATCTTTGACTGAATTCTATAAGTATATATTGTTCAGACTAAAACAAATGTTGCTAGCTAGGTTGGCTGTGCTGTCTCAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTG... | pathogenic | 167,732 |
The mutation in gene COL17A1 (collagen type XVII alpha 1 chain) at chromosome 10, position 104034050—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate'] | AACATTGCAACTACTGTTAGAGTCCACCCCATGAAGCTGTTTCAGATTGTGTATCTTTGACTGAATTCTATAAGTATATATTGTTCAGACTAAAACAAATGTTGCTAGCTAGGTTGGCTGTGCTGTCTCAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAA... | AACATTGCAACTACTGTTAGAGTCCACCCCATGAAGCTGTTTCAGATTGTGTATCTTTGACTGAATTCTATAAGTATATATTGTTCAGACTAAAACAAATGTTGCTAGCTAGGTTGGCTGTGCTGTCTCAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAA... | pathogenic | 167,735 |
Is the genetic variant on chromosome 10, position 104034178, gene COL17A1 (collagen type XVII alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type'] | CAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAAC... | CAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAAC... | pathogenic | 167,738 |
Does the genetic variant at chromosome 10, position 104034272, impacting gene COL17A1 (collagen type XVII alpha 1 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy', 'Junctional_epidermolysis_bullosa'] | CCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGT... | CCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGT... | pathogenic | 167,740 |
Variant on chromosome 10, at position 104034700, affecting COL17A1 (collagen type XVII alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate'] | ACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTG... | ACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTG... | pathogenic | 167,744 |
The mutation impacting COL17A1 (collagen type XVII alpha 1 chain) on chromosome 10 at position 104035265: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['COL17A1-related_disorder', 'Epidermolysis_bullosa,_junctional_4,_intermediate'] | AAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTG... | AAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTG... | pathogenic | 167,747 |
A genetic variant at chromosome 10, position 104035342, affecting gene COL17A1 (collagen type XVII alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Junctional_epidermolysis_bullosa'] | CTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCG... | CTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCG... | pathogenic | 167,750 |
Gene COL17A1 (collagen type XVII alpha 1 chain) variant at chromosome 10, position 104036489—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['COL17A1-related_disorder', 'Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy', 'Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type'] | AGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAG... | AGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAG... | pathogenic | 167,753 |
Gene COL17A1 (collagen type XVII alpha 1 chain) variant at chromosome position 104043511 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAAAGGTCTCCAAGATACTCACCTGGTGGCCCGCGTGGGCCGGGTGGGCCTGGGGGACCTTGTAAATTAAGAACTTCTATAGAGAGAAGAAAATAGAAATGAGCAAAAGCTGTCACGAGGCTGCTCTCTGCCACACTTCTCACCTCTCACTGGATCTGCAGTTCCAGGCACTCCAGGCTACCCTCACAGCCCAGACACCAGGCCCTGTGTCATGGCACAAGAGCCTGCAGCACCTCATCTGCTAAGGGTGCCCCTCACTCAGAGGCAGGGCAGGACCATAGTCAAGCTCCCTGACAGCTGATAAGAGCATGTGGAATGAT... | CAAAGGTCTCCAAGATACTCACCTGGTGGCCCGCGTGGGCCGGGTGGGCCTGGGGGACCTTGTAAATTAAGAACTTCTATAGAGAGAAGAAAATAGAAATGAGCAAAAGCTGTCACGAGGCTGCTCTCTGCCACACTTCTCACCTCTCACTGGATCTGCAGTTCCAGGCACTCCAGGCTACCCTCACAGCCCAGACACCAGGCCCTGTGTCATGGCACAAGAGCCTGCAGCACCTCATCTGCTAAGGGTGCCCCTCACTCAGAGGCAGGGCAGGACCATAGTCAAGCTCCCTGACAGCTGATAAGAGCATGTGGAATGAT... | benign | 167,787 |
Is chromosome 10, position 104043575, gene COL17A1 (collagen type XVII alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Junctional_epidermolysis_bullosa,_non-Herlitz_type'] | AATTAAGAACTTCTATAGAGAGAAGAAAATAGAAATGAGCAAAAGCTGTCACGAGGCTGCTCTCTGCCACACTTCTCACCTCTCACTGGATCTGCAGTTCCAGGCACTCCAGGCTACCCTCACAGCCCAGACACCAGGCCCTGTGTCATGGCACAAGAGCCTGCAGCACCTCATCTGCTAAGGGTGCCCCTCACTCAGAGGCAGGGCAGGACCATAGTCAAGCTCCCTGACAGCTGATAAGAGCATGTGGAATGATGGGGATACATTGGATTTCGGTGTCAGAAAGTCTGAGTTCAAACCCCTGCTCCCACACGTCTAGC... | AATTAAGAACTTCTATAGAGAGAAGAAAATAGAAATGAGCAAAAGCTGTCACGAGGCTGCTCTCTGCCACACTTCTCACCTCTCACTGGATCTGCAGTTCCAGGCACTCCAGGCTACCCTCACAGCCCAGACACCAGGCCCTGTGTCATGGCACAAGAGCCTGCAGCACCTCATCTGCTAAGGGTGCCCCTCACTCAGAGGCAGGGCAGGACCATAGTCAAGCTCCCTGACAGCTGATAAGAGCATGTGGAATGATGGGGATACATTGGATTTCGGTGTCAGAAAGTCTGAGTTCAAACCCCTGCTCCCACACGTCTAGC... | pathogenic | 167,788 |
A mutation at chromosome position 104048097 on chromosome 10 in gene COL17A1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy', 'Junctional_epidermolysis_bullosa'] | TCCATCCCTTGGGGTTATGAGCCACCTGGAGCCTGCAGAGCAGCCTCTGTCTCCCTTCTCCCCTGCAGGGGAGGGGCTCGGCTTCCTGAGTCCAATGCAGCATCACCCTCTTGCCTTTAACTACTGAACTCCTCTGTAAGAGCATTGGAAGCATGTCCCTATGAATTCAACTGCTGGGGGGCTGCTGCCTGATTTCATTTTCAATCTTTGCCTAATTTCTTTCAGGAAATTAGGGGATGAATGTAGTGATATGGGGGCACAATGGTCCAATTACAGGACAGGCTTTAACACTGAGGCTGTCCCAGAGAAACTGGGCTTTC... | TCCATCCCTTGGGGTTATGAGCCACCTGGAGCCTGCAGAGCAGCCTCTGTCTCCCTTCTCCCCTGCAGGGGAGGGGCTCGGCTTCCTGAGTCCAATGCAGCATCACCCTCTTGCCTTTAACTACTGAACTCCTCTGTAAGAGCATTGGAAGCATGTCCCTATGAATTCAACTGCTGGGGGGCTGCTGCCTGATTTCATTTTCAATCTTTGCCTAATTTCTTTCAGGAAATTAGGGGATGAATGTAGTGATATGGGGGCACAATGGTCCAATTACAGGACAGGCTTTAACACTGAGGCTGTCCCAGAGAAACTGGGCTTTC... | pathogenic | 167,799 |
Located at chromosome 10 position 104053089, the variant affecting gene COL17A1 (collagen type XVII alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Junctional_epidermolysis_bullosa,_non-Herlitz_type'] | ACTCCTTCCCAAGTCCTTTTTAAGTCATTTTGGCCCAGGTTCCTTGCCTCTGCTGATGAACAGGCATTAGAACACATTGTCGAGTCTTGGCAGAGGCACTGGCCACAGCTCAAGATTCTCAAGACAGCAGGACAAGCTCTGTGGCCATAGGGGACAAGAGAGAGGCAGGTGCTTGCTCAGATGGAGGCAGGATGGGGACTTCCATTGCTGAAGCTGCTGGAGGGTCTCAAGCCCTAAGCCAGGTCAGAAGGGATCTGGACAGGACATATCAGGGAGCCCAACCTCTGCCACAGGAGACACACATGCAGACTTGAATTCTA... | ACTCCTTCCCAAGTCCTTTTTAAGTCATTTTGGCCCAGGTTCCTTGCCTCTGCTGATGAACAGGCATTAGAACACATTGTCGAGTCTTGGCAGAGGCACTGGCCACAGCTCAAGATTCTCAAGACAGCAGGACAAGCTCTGTGGCCATAGGGGACAAGAGAGAGGCAGGTGCTTGCTCAGATGGAGGCAGGATGGGGACTTCCATTGCTGAAGCTGCTGGAGGGTCTCAAGCCCTAAGCCAGGTCAGAAGGGATCTGGACAGGACATATCAGGGAGCCCAACCTCTGCCACAGGAGACACACATGCAGACTTGAATTCTA... | pathogenic | 167,811 |
Evaluate this variant at chromosome 10, position 104074222, gene COL17A1 (collagen type XVII alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'COL17A1-related_disorder', 'Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy', 'Inborn_genetic_diseases'] | TGCTCTGACATTTCTGAGCTCTGGAAACAGGAAATCTAGGTGTGCCCAAGAAGAGTGCTGCTTAAAAAGGGAGACCTCCCTACCTCCAACAATTCCCCATCCTGCCAACTGCATACCTCCCAGGCAGCTGGAGATGTTCTAATAAAATTCCAGGCTGAGCAAGGAGGTTCCAGTACAATCAGCAATGGTCAATCCTTTCCCCATCATCCACCTCATGGCTGCCAGAACCAAGGTTCTCTCCTGCGTCCATGGTCTCAGGCATTGGCAAAAGATTCTAAAAGCCAGAGTGTTTACTTGCCATTTTGGCCTCTTCAGAGATG... | TGCTCTGACATTTCTGAGCTCTGGAAACAGGAAATCTAGGTGTGCCCAAGAAGAGTGCTGCTTAAAAAGGGAGACCTCCCTACCTCCAACAATTCCCCATCCTGCCAACTGCATACCTCCCAGGCAGCTGGAGATGTTCTAATAAAATTCCAGGCTGAGCAAGGAGGTTCCAGTACAATCAGCAATGGTCAATCCTTTCCCCATCATCCACCTCATGGCTGCCAGAACCAAGGTTCTCTCCTGCGTCCATGGTCTCAGGCATTGGCAAAAGATTCTAAAAGCCAGAGTGTTTACTTGCCATTTTGGCCTCTTCAGAGATG... | pathogenic | 167,854 |
Evaluate the clinical significance of the mutation at chromosome 10, position 110577501 in gene SMC3 (structural maintenance of chromosomes 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATAAATTTTCCATGCTGGTTAAAAAAGCATTTGTTCAAGTTTCAGATTCTTTGTGAACAAGACACAATCTTTCTCATAAGTGTGTTACTCTGCTGTGAAATTTAGCCTAACATATTAATGCCAGATAAAAGCCCAATTTTTATACAGTGGTTTAGGAGAAAATTATAGGATTTGCCTATAGATGGATATGTCCTCCATATAAATGTCTTAAAGGAGACATGATATATATCATAAGTGTTTTATTCTGCTGTGAAATTTAGCCTAACATGTTAATGCCAGATAAAGGCCTAATTTTTATGTGATGGTTAGGAGAAAATTAT... | ATAAATTTTCCATGCTGGTTAAAAAAGCATTTGTTCAAGTTTCAGATTCTTTGTGAACAAGACACAATCTTTCTCATAAGTGTGTTACTCTGCTGTGAAATTTAGCCTAACATATTAATGCCAGATAAAAGCCCAATTTTTATACAGTGGTTTAGGAGAAAATTATAGGATTTGCCTATAGATGGATATGTCCTCCATATAAATGTCTTAAAGGAGACATGATATATATCATAAGTGTTTTATTCTGCTGTGAAATTTAGCCTAACATGTTAATGCCAGATAAAGGCCTAATTTTTATGTGATGGTTAGGAGAAAATTAT... | benign | 167,914 |
Clinical significance of chromosome 10, position 110581915, gene SMC3 (structural maintenance of chromosomes 3): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GATATCATTTTTGACATTTAGGGATACTTGTTATATATTAAGTTGCATGGCACTTAAGTTGTACCATTCTCTCTATATTTAAAGCATACCATTTTTGTCATATCATTAGCCTTCTGTATCTGTAGGTTCCACATCTGCAAGTTCAGCCAACCATGGATCAAAAATATTTAAAATAAATAAAATTTTAAAACAGTACAATAAGAAATAATACAAATTTAAAAATACAGTAAAACTATTTACATAGCATTTACATTGTATTATTATAATTAATCTAGATATTAAAGTATATGGAAGGATGTGCATAGGTTATATGCAAATAC... | GATATCATTTTTGACATTTAGGGATACTTGTTATATATTAAGTTGCATGGCACTTAAGTTGTACCATTCTCTCTATATTTAAAGCATACCATTTTTGTCATATCATTAGCCTTCTGTATCTGTAGGTTCCACATCTGCAAGTTCAGCCAACCATGGATCAAAAATATTTAAAATAAATAAAATTTTAAAACAGTACAATAAGAAATAATACAAATTTAAAAATACAGTAAAACTATTTACATAGCATTTACATTGTATTATTATAATTAATCTAGATATTAAAGTATATGGAAGGATGTGCATAGGTTATATGCAAATAC... | benign | 167,924 |
For chromosome 10, position 110582548, gene SMC3 (structural maintenance of chromosomes 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCATTTAAGTAAAGGAGACATAGATATGTAGGCATGCGTACTATACAAATGACATTAGCCAAATCATAATCTGTTTAAAACTTGGCATGTCCCAAATTCAAAAGTCTGAAATACAGAATGCTCTACAATCTGAAACCTTTCGAGTGTGGACATGACATTCAAAGGAAATGCTTGTTGGAACATTTTGGATTTCAAATTTTTGGATTTGGGTTGCTCATCTGGTAAGTATAAATGCAAATATTCCAAAACTTGAAAAAATCTAAAATCTGTAACACTTCTGGTTTCTAACCATTTTGCATAAGGGATACCCAACCTTCATG... | TCATTTAAGTAAAGGAGACATAGATATGTAGGCATGCGTACTATACAAATGACATTAGCCAAATCATAATCTGTTTAAAACTTGGCATGTCCCAAATTCAAAAGTCTGAAATACAGAATGCTCTACAATCTGAAACCTTTCGAGTGTGGACATGACATTCAAAGGAAATGCTTGTTGGAACATTTTGGATTTCAAATTTTTGGATTTGGGTTGCTCATCTGGTAAGTATAAATGCAAATATTCCAAAACTTGAAAAAATCTAAAATCTGTAACACTTCTGGTTTCTAACCATTTTGCATAAGGGATACCCAACCTTCATG... | benign | 167,926 |
Gene SMC3 (structural maintenance of chromosomes 3) variant at chromosome position 110589930 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cornelia_de_Lange_syndrome_3'] | TTACCTAGGGAATTTGTTAACTCTTTTATGGTTTCAGATACCACTGAGTCCCAAATTCCTTATGTGTAGAATTAAAGGGTTTAATTATCCAAGATGTTAAAAGTCATTCTGATTATCCAAGATTTTTTGAGACAGAGTCTCGCTGTGTCACCAGGTTGGAGTGCAGTGACACAATCTCAGCTCACTGCAACCTCCCCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCCAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACGATGTTGCCCA... | TTACCTAGGGAATTTGTTAACTCTTTTATGGTTTCAGATACCACTGAGTCCCAAATTCCTTATGTGTAGAATTAAAGGGTTTAATTATCCAAGATGTTAAAAGTCATTCTGATTATCCAAGATTTTTTGAGACAGAGTCTCGCTGTGTCACCAGGTTGGAGTGCAGTGACACAATCTCAGCTCACTGCAACCTCCCCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCCAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACGATGTTGCCCA... | pathogenic | 167,941 |
Does the genetic variant at chromosome 10, position 110600557, impacting gene SMC3 (structural maintenance of chromosomes 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CGATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGACATACGCCACCACATCCGGCTAATTTTGTGTTTTTAGTAGACATGGGGTTTCACCATGTTGTCCAGGCTTGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTGCCCTCCCGAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCCAGGCTAGACCCATACTTTTGGATATCTACATCTATTTTACCATTCTTAAACCCATGGATACCCAAAGTCTCCTATTGTTGGCACGTTCAAACTTTCCACCTTCATTGAACAAATAGGCATTTGAAGC... | CGATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGACATACGCCACCACATCCGGCTAATTTTGTGTTTTTAGTAGACATGGGGTTTCACCATGTTGTCCAGGCTTGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTGCCCTCCCGAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCCAGGCTAGACCCATACTTTTGGATATCTACATCTATTTTACCATTCTTAAACCCATGGATACCCAAAGTCTCCTATTGTTGGCACGTTCAAACTTTCCACCTTCATTGAACAAATAGGCATTTGAAGC... | benign | 167,955 |
Does the genetic variant at chromosome 10, position 110799773, impacting gene RBM20 (RNA binding motif protein 20), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAGAAGCCATTCTTAACATAAAGAGGCGATGCCGTAGCTGGCCTTCTGTTGGCATGGCGTAGGTGTTTTTGCTGGTGATGTTTTTTTGTTTCCCCTAGTTTCACTCTAACCTTCTAGTGATAGGTACAGGCCTTTGTGAATTGCCTAGAGGTGAGAGGAGATGCTTTGGAATGAGGTGCTCATTCACATAGAAAGGGTAATTGGCACCCAAAATAAAAATCTATGGACTTGAATCTCTTCACTGTGTTGTCAACCCCCCTGAGCTAATTATAATCTTATCCTCTAAGCCTCTCCTATCTGATGGCCTGGATTTGGAGCCA... | AAGAAGCCATTCTTAACATAAAGAGGCGATGCCGTAGCTGGCCTTCTGTTGGCATGGCGTAGGTGTTTTTGCTGGTGATGTTTTTTTGTTTCCCCTAGTTTCACTCTAACCTTCTAGTGATAGGTACAGGCCTTTGTGAATTGCCTAGAGGTGAGAGGAGATGCTTTGGAATGAGGTGCTCATTCACATAGAAAGGGTAATTGGCACCCAAAATAAAAATCTATGGACTTGAATCTCTTCACTGTGTTGTCAACCCCCCTGAGCTAATTATAATCTTATCCTCTAAGCCTCTCCTATCTGATGGCCTGGATTTGGAGCCA... | benign | 168,078 |
Is the genetic mutation found on chromosome 10 at position 110823623, within the gene RBM20 (RNA binding motif protein 20), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTGCTTCCACAAGCTGTCCCAGTGACATGGACGTGGAAATGCCTGGCCTAAATCTGGATGCTGAGCGGAAGCCAGCTGAAAGTGAGACAGGCCTCTCCCTGGAGGATTCAGATTGCTACGAGAAGGAGGCAAAGGGAGTGGAGAGCTCAGATGTTCATCCAGCCCCTACAGTCCAGCAAATGTCTTCCCCTAAGCCAGCAGAGGAGAGGGCCCGGCAGCCAAGCCCATTTGTGGATGATTGCAAGACCAGGGGGACCCCCGAAGATGGGGCTTGTGAAGGCAGCCCCCTGGAGGAGAAAGCCAGCCCCCCCATCGAAAC... | TCTGCTTCCACAAGCTGTCCCAGTGACATGGACGTGGAAATGCCTGGCCTAAATCTGGATGCTGAGCGGAAGCCAGCTGAAAGTGAGACAGGCCTCTCCCTGGAGGATTCAGATTGCTACGAGAAGGAGGCAAAGGGAGTGGAGAGCTCAGATGTTCATCCAGCCCCTACAGTCCAGCAAATGTCTTCCCCTAAGCCAGCAGAGGAGAGGGCCCGGCAGCCAAGCCCATTTGTGGATGATTGCAAGACCAGGGGGACCCCCGAAGATGGGGCTTGTGAAGGCAGCCCCCTGGAGGAGAAAGCCAGCCCCCCCATCGAAAC... | benign | 168,189 |
Regarding the variant at chromosome 10 and position 110965075, affecting gene SHOC2 (SHOC2 leucine rich repeat scaffold protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TATCACATCCTTTTGGTAGTCTGACAAAATTCTAATAACTGTTTTAACCTCTTAAGCTAGTCAGGTAAGAAGTTATTTTATCTTTAATCCCTAGTACCAAATAATTACCAGTTAGTTAAATAGAGTTAACAATAGAGTCATAAAATAAGAATTACTAATTTTAAATTTCAAAATGTTTAGGGAGGACTGATTCCTTCCATAAATATTTTACTAATCTTTTTGTCCTTTGCCAATCTTTTCGGCCTGTCATTTTACCAGCAGACTTTTTCTGCTTTTAAGAACCCTGTGCCATTGATCTTTCTTTTTCAGTCCCTAGAATA... | TATCACATCCTTTTGGTAGTCTGACAAAATTCTAATAACTGTTTTAACCTCTTAAGCTAGTCAGGTAAGAAGTTATTTTATCTTTAATCCCTAGTACCAAATAATTACCAGTTAGTTAAATAGAGTTAACAATAGAGTCATAAAATAAGAATTACTAATTTTAAATTTCAAAATGTTTAGGGAGGACTGATTCCTTCCATAAATATTTTACTAATCTTTTTGTCCTTTGCCAATCTTTTCGGCCTGTCATTTTACCAGCAGACTTTTTCTGCTTTTAAGAACCCTGTGCCATTGATCTTTCTTTTTCAGTCCCTAGAATA... | benign | 168,247 |
Clinical classification of chromosome 10, position 111004593, gene SHOC2 (SHOC2 leucine rich repeat scaffold protein): benign or pathogenic? Disease(s) if pathogenic? | benign | TACATGTATTGTCTCATTTAATCTTTATCATAAACCTACTAGTTATTGGAGTATCCTCATCAAACAGATAGCGAAATAAGGCTTAAGAGAGGTTATATTTTTGGCCAAATTTGTTACTTTAAATATTTTTCTGGAAGTATGGTAAGAGGTATATTGATTATCTAATTAATCCACCAAAGTTGACAAAACTTAGTAGAAGGTGTAAAATAGAAGCCTAGATGTGTCTCATTCTAACAAAAAAAAAAAAATGATAAGCAACCCCTGCTTCACAATGTGACTAAGAAATGAGAGCTTGAAGAGCTGGCTTCTTGTTGCCCCTT... | TACATGTATTGTCTCATTTAATCTTTATCATAAACCTACTAGTTATTGGAGTATCCTCATCAAACAGATAGCGAAATAAGGCTTAAGAGAGGTTATATTTTTGGCCAAATTTGTTACTTTAAATATTTTTCTGGAAGTATGGTAAGAGGTATATTGATTATCTAATTAATCCACCAAAGTTGACAAAACTTAGTAGAAGGTGTAAAATAGAAGCCTAGATGTGTCTCATTCTAACAAAAAAAAAAAAATGATAAGCAACCCCTGCTTCACAATGTGACTAAGAAATGAGAGCTTGAAGAGCTGGCTTCTTGTTGCCCCTT... | benign | 168,259 |
Variant in SHOC2 (SHOC2 leucine rich repeat scaffold protein), chromosome 10, position 111004593—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TACATGTATTGTCTCATTTAATCTTTATCATAAACCTACTAGTTATTGGAGTATCCTCATCAAACAGATAGCGAAATAAGGCTTAAGAGAGGTTATATTTTTGGCCAAATTTGTTACTTTAAATATTTTTCTGGAAGTATGGTAAGAGGTATATTGATTATCTAATTAATCCACCAAAGTTGACAAAACTTAGTAGAAGGTGTAAAATAGAAGCCTAGATGTGTCTCATTCTAACAAAAAAAAAAAAATGATAAGCAACCCCTGCTTCACAATGTGACTAAGAAATGAGAGCTTGAAGAGCTGGCTTCTTGTTGCCCCTT... | TACATGTATTGTCTCATTTAATCTTTATCATAAACCTACTAGTTATTGGAGTATCCTCATCAAACAGATAGCGAAATAAGGCTTAAGAGAGGTTATATTTTTGGCCAAATTTGTTACTTTAAATATTTTTCTGGAAGTATGGTAAGAGGTATATTGATTATCTAATTAATCCACCAAAGTTGACAAAACTTAGTAGAAGGTGTAAAATAGAAGCCTAGATGTGTCTCATTCTAACAAAAAAAAAAAAATGATAAGCAACCCCTGCTTCACAATGTGACTAAGAAATGAGAGCTTGAAGAGCTGGCTTCTTGTTGCCCCTT... | benign | 168,260 |
Is the genetic mutation found on chromosome 10 at position 111011593, within the gene SHOC2 (SHOC2 leucine rich repeat scaffold protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTAACAAATGGTATTTTGTGAAAGAAAAATATGTAATGTAAGTGATTCTCATTCTATCCAATCTGGTTTCCCTGTTAATTTATTTTATTGTTTAGACATATTATTTTCAGTTTACATTAAATGTAGGAAATATATTTGTAACTCTCTTTTATTTTGTAAATCTTTTAGAAATTAGTCTTGACAAACAACCAGTTGACCACTCTTCCCAGAGGCATTGGTCACCTTACTAATCTCACACATCTGGGCCTTGGAGAGAACCTACTTACTCACCTTCCTGAAGAAATTGGTATGAACCCTGTGAATGCTTGACTCTGTACTAA... | CTAACAAATGGTATTTTGTGAAAGAAAAATATGTAATGTAAGTGATTCTCATTCTATCCAATCTGGTTTCCCTGTTAATTTATTTTATTGTTTAGACATATTATTTTCAGTTTACATTAAATGTAGGAAATATATTTGTAACTCTCTTTTATTTTGTAAATCTTTTAGAAATTAGTCTTGACAAACAACCAGTTGACCACTCTTCCCAGAGGCATTGGTCACCTTACTAATCTCACACATCTGGGCCTTGGAGAGAACCTACTTACTCACCTTCCTGAAGAAATTGGTATGAACCCTGTGAATGCTTGACTCTGTACTAA... | benign | 168,280 |
Gene SHOC2 (SHOC2 leucine rich repeat scaffold protein) variant at chromosome 10, position 111011593—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CTAACAAATGGTATTTTGTGAAAGAAAAATATGTAATGTAAGTGATTCTCATTCTATCCAATCTGGTTTCCCTGTTAATTTATTTTATTGTTTAGACATATTATTTTCAGTTTACATTAAATGTAGGAAATATATTTGTAACTCTCTTTTATTTTGTAAATCTTTTAGAAATTAGTCTTGACAAACAACCAGTTGACCACTCTTCCCAGAGGCATTGGTCACCTTACTAATCTCACACATCTGGGCCTTGGAGAGAACCTACTTACTCACCTTCCTGAAGAAATTGGTATGAACCCTGTGAATGCTTGACTCTGTACTAA... | CTAACAAATGGTATTTTGTGAAAGAAAAATATGTAATGTAAGTGATTCTCATTCTATCCAATCTGGTTTCCCTGTTAATTTATTTTATTGTTTAGACATATTATTTTCAGTTTACATTAAATGTAGGAAATATATTTGTAACTCTCTTTTATTTTGTAAATCTTTTAGAAATTAGTCTTGACAAACAACCAGTTGACCACTCTTCCCAGAGGCATTGGTCACCTTACTAATCTCACACATCTGGGCCTTGGAGAGAACCTACTTACTCACCTTCCTGAAGAAATTGGTATGAACCCTGTGAATGCTTGACTCTGTACTAA... | benign | 168,281 |
Mutation at chromosome 10, position 113588967, within HABP2: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTGTCTCTTCCCAGTGAGCCAAGGATGTTCACCTACTCAGAGGAGGGGCAGATGGGTGCAATTTGCCCTAAACTCCTTCCCAGAAGATGGTTAAGAAAACAGCTCATTCAGGCTGGGCATGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAGAAAAATACAAAAATTAGGTGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTGGGGCTGAGGCAGGAGAATCGCTTGGA... | CTGTCTCTTCCCAGTGAGCCAAGGATGTTCACCTACTCAGAGGAGGGGCAGATGGGTGCAATTTGCCCTAAACTCCTTCCCAGAAGATGGTTAAGAAAACAGCTCATTCAGGCTGGGCATGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAGAAAAATACAAAAATTAGGTGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTGGGGCTGAGGCAGGAGAATCGCTTGGA... | benign | 168,375 |
Is the variant located on chromosome 10 at position 113588989, gene HABP2, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGATGTTCACCTACTCAGAGGAGGGGCAGATGGGTGCAATTTGCCCTAAACTCCTTCCCAGAAGATGGTTAAGAAAACAGCTCATTCAGGCTGGGCATGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAGAAAAATACAAAAATTAGGTGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTGGGGCTGAGGCAGGAGAATCGCTTGGACGTGGGAAACGGAGGTTGCAGT... | GGATGTTCACCTACTCAGAGGAGGGGCAGATGGGTGCAATTTGCCCTAAACTCCTTCCCAGAAGATGGTTAAGAAAACAGCTCATTCAGGCTGGGCATGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAGAAAAATACAAAAATTAGGTGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTGGGGCTGAGGCAGGAGAATCGCTTGGACGTGGGAAACGGAGGTTGCAGT... | benign | 168,376 |
Does the variant impacting EMX2 on chromosome 10, position 117543426, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATAAACAGAGAGCAGCGCCAGCAGCCTGGGGATGTGATCATAATTATGCCGCCGCGCGAGCCAATGGGGACGAGGGAACTCGGTCCTAAAATCATCCCAAAACCGAAGGCGAGCTCGAAAATGCGGACACGGCCCGGGACCGGAGATGCGATCCGTAGTCGTTAGTTGCACTGGGTTTGCACAGCAACCACCACCCCCCCACCAACCCCGGGACAACAGATGGCATAATAATAATAATAGAAATAATAATAATAAAATAATATCATCTATAATAATAATAACATTGACCACACTGACAAAAATAATTACGACGGAACCT... | AATAAACAGAGAGCAGCGCCAGCAGCCTGGGGATGTGATCATAATTATGCCGCCGCGCGAGCCAATGGGGACGAGGGAACTCGGTCCTAAAATCATCCCAAAACCGAAGGCGAGCTCGAAAATGCGGACACGGCCCGGGACCGGAGATGCGATCCGTAGTCGTTAGTTGCACTGGGTTTGCACAGCAACCACCACCCCCCCACCAACCCCGGGACAACAGATGGCATAATAATAATAATAGAAATAATAATAATAAAATAATATCATCTATAATAATAATAACATTGACCACACTGACAAAAATAATTACGACGGAACCT... | benign | 168,529 |
The chromosome 10, position 119030300 genetic variant in gene NANOS1 (nanos C2HC-type zinc finger 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GTGAGACCCTGTCTCAAGAAAAAAAAAAAAGAAAAAAGAAAAATCAAGAAGAAAAAAGAAAGAGTGAGAAAGAAAGAAAGAGGCCAGACGCGGTGGCTCACGCCTGTAACACCAACACTTTGGGAGGCCAAGGCAGGCGGATCGCGAGGTCTGGAGTTCAAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCCCGGCATGGTGGCGGGCATCTGTAATCCCAGCTGCTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGATGCGGAAAGAAAAGAAAAAAAAAGAAAGAA... | GTGAGACCCTGTCTCAAGAAAAAAAAAAAAGAAAAAAGAAAAATCAAGAAGAAAAAAGAAAGAGTGAGAAAGAAAGAAAGAGGCCAGACGCGGTGGCTCACGCCTGTAACACCAACACTTTGGGAGGCCAAGGCAGGCGGATCGCGAGGTCTGGAGTTCAAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCCCGGCATGGTGGCGGGCATCTGTAATCCCAGCTGCTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGATGCGGAAAGAAAAGAAAAAAAAAGAAAGAA... | benign | 168,537 |
Does the genetic variant at chromosome 10, position 119146241, impacting gene SFXN4 (sideroflexin 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Growth_and_developmental_delay-hypotonia-vision_impairment-lactic_acidosis_syndrome'] | ACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGAGAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCGTCTCAAAAAAAAAAAATTGCTAATATCTGCTAGCATCAGTAATGTCTTTGACATCTGCTA... | ACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGAGAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCGTCTCAAAAAAAAAAAATTGCTAATATCTGCTAGCATCAGTAATGTCTTTGACATCTGCTA... | pathogenic | 168,548 |
Variant in gene BAG3 (BAG cochaperone 3), located at chromosome 10 position 119651741: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6'] | AGAAAAGAACATGTTAAGAAAATCATAAGGAAGAGATTTTACATTTACATAAGGAAGAGTAGTACACTTACTACTCATTTAGTGGACGTGATCATCATAAACGTCATCATCCTCATTATCTTCACGTGGAGGCTGAGGAGGGGAAGGAAGAGGAAGGGTTGATTCTCCTGTCAAGGGGTGGCAGAGACAGAAGAGGTGGAGGAGGTGGAAGGGGAGACTGGAGAGGCAAGCACATCGGTGTAACTTTTATTGAAAAAAAATCCATGTACAAGTGGACCTGCTCAATTCAAACCCATGTTAAGGGTCAACTGTACAGTAAT... | AGAAAAGAACATGTTAAGAAAATCATAAGGAAGAGATTTTACATTTACATAAGGAAGAGTAGTACACTTACTACTCATTTAGTGGACGTGATCATCATAAACGTCATCATCCTCATTATCTTCACGTGGAGGCTGAGGAGGGGAAGGAAGAGGAAGGGTTGATTCTCCTGTCAAGGGGTGGCAGAGACAGAAGAGGTGGAGGAGGTGGAAGGGGAGACTGGAGAGGCAAGCACATCGGTGTAACTTTTATTGAAAAAAAATCCATGTACAAGTGGACCTGCTCAATTCAAACCCATGTTAAGGGTCAACTGTACAGTAAT... | pathogenic | 168,592 |
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