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 |
|---|---|---|---|---|---|
Variant at chromosome 10, position 78009679, gene POLR3A (RNA polymerase III subunit A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CAAAATAACGTAAACCCTTAAGACTCTAACAATTGCAGCTTTAACTAAAAGAAGGATGCTGAGATACTTACACAGGTAGACAGGAGCCAGCCTGGCGAGCCGTGACATGGCATCTGCAGCTTCATTCTGTCCCCAGTCTCGCAGCAAAATGTAAAAAATATTGTTCTTGGATCCTGACCCTAGGGTTCCTTTGTCCATGCTGCCACTCATCAACTCACTGTTCTGGATTGTAACATCTGGAAGAATGATTATATATTTAGACAACAATTATTTATTACTTTGCCTTATTCCAAAATGAATTTGAGACAGTTGAGAAAATA... | CAAAATAACGTAAACCCTTAAGACTCTAACAATTGCAGCTTTAACTAAAAGAAGGATGCTGAGATACTTACACAGGTAGACAGGAGCCAGCCTGGCGAGCCGTGACATGGCATCTGCAGCTTCATTCTGTCCCCAGTCTCGCAGCAAAATGTAAAAAATATTGTTCTTGGATCCTGACCCTAGGGTTCCTTTGTCCATGCTGCCACTCATCAACTCACTGTTCTGGATTGTAACATCTGGAAGAATGATTATATATTTAGACAACAATTATTTATTACTTTGCCTTATTCCAAAATGAATTTGAGACAGTTGAGAAAATA... | benign | 163,395 |
Clinical significance of chromosome 10, position 78021860, gene POLR3A (RNA polymerase III subunit A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leukoencephalopathy,_ataxia,_hypodontia,_hypomyelination_syndrome', 'Neonatal_pseudo-hydrocephalic_progeroid_syndrome'] | TAGGTAAAGCTAATCAATATTCTCGTTAGCAGGCCCTGCAGTTACCTAGACCTCAATTTAAAAAAAAAAAAAAAAGTATGGGCTGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTACTAAGAATATAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGACAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTG... | TAGGTAAAGCTAATCAATATTCTCGTTAGCAGGCCCTGCAGTTACCTAGACCTCAATTTAAAAAAAAAAAAAAAAGTATGGGCTGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTACTAAGAATATAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGACAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTG... | pathogenic | 163,423 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 78024592, gene POLR3A (RNA polymerase III subunit A). What disease(s) is it linked to if pathogenic? | pathogenic; ['Leukoencephalopathy,_ataxia,_hypodontia,_hypomyelination_syndrome'] | TTGTGTATGTCTTTTATTCCAATTTTTCAAGCCAAAAATTCCACTTCTCATTATTCCAAGGGGTGTAACTTCAGAAATGAACACAAAGATTTAGCTACAAGAATGTTCACAAAAGCTGTTTTTTGTTATTTTTTATCCGTGTGACAGAATAGGAAGGTAATAAAAGCTGTTCTTAACAGTGAAAAGTTGGAAAGAGCCTGACAGTTTATTGGCTAAATAAAATCACGGTATATCCCTATGTGGAAAAGCAGCAAGCCATTGGGGGGAAAAAAAGATACTAGACAAACACAGCAATTGACATAAAAAAGGTCCATAAAATA... | TTGTGTATGTCTTTTATTCCAATTTTTCAAGCCAAAAATTCCACTTCTCATTATTCCAAGGGGTGTAACTTCAGAAATGAACACAAAGATTTAGCTACAAGAATGTTCACAAAAGCTGTTTTTTGTTATTTTTTATCCGTGTGACAGAATAGGAAGGTAATAAAAGCTGTTCTTAACAGTGAAAAGTTGGAAAGAGCCTGACAGTTTATTGGCTAAATAAAATCACGGTATATCCCTATGTGGAAAAGCAGCAAGCCATTGGGGGGAAAAAAAGATACTAGACAAACACAGCAATTGACATAAAAAAGGTCCATAAAATA... | pathogenic | 163,432 |
The mutation impacting POLR3A (RNA polymerase III subunit A) on chromosome 10 at position 78026126: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leukodystrophy'] | AGCTGGCCGGGTGTGGTGGCTCATACCTGTAATCTTAGCACTTTGGGAGGCTGAGGCGACTGGATCACCTGTGGTCAGGAGTTCAAGACTGGCCTGGCCAATATGGGGAAACCCTGTCTCTACTAAAAATATAAAAATTAGGTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGAAGAATCGTTTTAACCTGGGATGCACAGGTTGCAGTGAACCAAGATTTGCACCACTCACTCCAGCCAGGGTGAAAGAGCGAGACTCTGTCTTCCATCTCAAAAAAAAAAAAAAAAAAAGGAATTAT... | AGCTGGCCGGGTGTGGTGGCTCATACCTGTAATCTTAGCACTTTGGGAGGCTGAGGCGACTGGATCACCTGTGGTCAGGAGTTCAAGACTGGCCTGGCCAATATGGGGAAACCCTGTCTCTACTAAAAATATAAAAATTAGGTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGAAGAATCGTTTTAACCTGGGATGCACAGGTTGCAGTGAACCAAGATTTGCACCACTCACTCCAGCCAGGGTGAAAGAGCGAGACTCTGTCTTCCATCTCAAAAAAAAAAAAAAAAAAAGGAATTAT... | pathogenic | 163,440 |
Is chromosome 10, position 79307487, gene ZMIZ1 (zinc finger MIZ-type containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Syndromic_neurodevelopmental_disorder'] | GGGGTGGGACCCCACTGACACTGAGGTGGATGGGCTTTGCCCCTACCTCCTTGGGTCCTGGAGCAGAGGCCAAGCTCCCCATCTCCTTTTCCAGTAAAACCGCTCTGCTGGAGGGCCTGGAGGTGGATCAGTACATGTGGGGAATCCTGAATGCCATCCAACAGTAAGTGGGGCCCTAGCGAGGGGCAGGGGGTGGGAGGGGACGAGGCCTGGATTAGAGCAAGGTGAGCAGGTGGATAGCCCTGACACAGCCCTCCCCTCCCAGGCCAGCAGACCGTGACCCACATCCCCCACCTCTCTGTCCCTTACCCTCGGGGGCC... | GGGGTGGGACCCCACTGACACTGAGGTGGATGGGCTTTGCCCCTACCTCCTTGGGTCCTGGAGCAGAGGCCAAGCTCCCCATCTCCTTTTCCAGTAAAACCGCTCTGCTGGAGGGCCTGGAGGTGGATCAGTACATGTGGGGAATCCTGAATGCCATCCAACAGTAAGTGGGGCCCTAGCGAGGGGCAGGGGGTGGGAGGGGACGAGGCCTGGATTAGAGCAAGGTGAGCAGGTGGATAGCCCTGACACAGCCCTCCCCTCCCAGGCCAGCAGACCGTGACCCACATCCCCCACCTCTCTGTCCCTTACCCTCGGGGGCC... | pathogenic | 163,508 |
The mutation impacting ZMIZ1 (zinc finger MIZ-type containing 1) on chromosome 10 at position 79307570: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_skeletal_anomalies'] | TCCTTTTCCAGTAAAACCGCTCTGCTGGAGGGCCTGGAGGTGGATCAGTACATGTGGGGAATCCTGAATGCCATCCAACAGTAAGTGGGGCCCTAGCGAGGGGCAGGGGGTGGGAGGGGACGAGGCCTGGATTAGAGCAAGGTGAGCAGGTGGATAGCCCTGACACAGCCCTCCCCTCCCAGGCCAGCAGACCGTGACCCACATCCCCCACCTCTCTGTCCCTTACCCTCGGGGGCCTCTGGATCTGGGGACAAATGAACTTCCCAGAAAGCATGAAAGCCAGCCACAGCAGGAGGCTGACAGTGCCCCGCCCCGACCCT... | TCCTTTTCCAGTAAAACCGCTCTGCTGGAGGGCCTGGAGGTGGATCAGTACATGTGGGGAATCCTGAATGCCATCCAACAGTAAGTGGGGCCCTAGCGAGGGGCAGGGGGTGGGAGGGGACGAGGCCTGGATTAGAGCAAGGTGAGCAGGTGGATAGCCCTGACACAGCCCTCCCCTCCCAGGCCAGCAGACCGTGACCCACATCCCCCACCTCTCTGTCCCTTACCCTCGGGGGCCTCTGGATCTGGGGACAAATGAACTTCCCAGAAAGCATGAAAGCCAGCCACAGCAGGAGGCTGACAGTGCCCCGCCCCGACCCT... | pathogenic | 163,510 |
Variant in gene ZMIZ1 (zinc finger MIZ-type containing 1), located at chromosome 10 position 79311129: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | CCACACCTGCCCAGGTGGAGGCAGCCACACCCCCAGCTGAGCCCAAGGCTGGGAGGCACTGCCATGCCCGCAGAGACTGGCCAGAGCGCTCTATCCAGATGCTGCTGCCCCCACAGACTGCCCATACTTGGTGGCGGGTTGACAGGTGTGTCAGCAGTGCTCCAACAGCACCTGCCCCTCCATGCCGGAGACATTCCAGCCAGATACGAAGCTGAGGGGCACAGCTGCCTCTGAAGATCCAGGGACTGTCTGTCTTGAGCTGGGCTGCACAGCTGGAGTGTGGAGCCCCTCCCTGCTCTCCCAGGGTGGGCACTGAGGGC... | CCACACCTGCCCAGGTGGAGGCAGCCACACCCCCAGCTGAGCCCAAGGCTGGGAGGCACTGCCATGCCCGCAGAGACTGGCCAGAGCGCTCTATCCAGATGCTGCTGCCCCCACAGACTGCCCATACTTGGTGGCGGGTTGACAGGTGTGTCAGCAGTGCTCCAACAGCACCTGCCCCTCCATGCCGGAGACATTCCAGCCAGATACGAAGCTGAGGGGCACAGCTGCCTCTGAAGATCCAGGGACTGTCTGTCTTGAGCTGGGCTGCACAGCTGGAGTGTGGAGCCCCTCCCTGCTCTCCCAGGGTGGGCACTGAGGGC... | pathogenic | 163,514 |
Evaluate if the mutation on chromosome 10 at position 80166036 in ANXA11 (annexin A11) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CACAGCCCCAAGAGCACAGGGATCTGCAGAGGGCAGAGGGCAGAGGGCAGAGGGAGCGGCCTCACCTGCTTTGTAGGCTCTGTTTAATTCTCGGATGTGCTCATTGCTGCGGGAAGCGAGGATCTCAATCAGGCAGGCTTCATCAGTGCCAACCCCCTGCAGGGGCAGAGAATACAACCAACCATGTGCTTGTTCCAGCAGCCTCACCAGCACTCGGGAAGAAGGGTGGGGGCTACGCTGCTGCCTTAATCCCAGCAACAGAGGCCCCTGACACAGAGACACACCCTCCAGCCACTCCCAGGCTCGAGGGCATCAGCTCT... | CACAGCCCCAAGAGCACAGGGATCTGCAGAGGGCAGAGGGCAGAGGGCAGAGGGAGCGGCCTCACCTGCTTTGTAGGCTCTGTTTAATTCTCGGATGTGCTCATTGCTGCGGGAAGCGAGGATCTCAATCAGGCAGGCTTCATCAGTGCCAACCCCCTGCAGGGGCAGAGAATACAACCAACCATGTGCTTGTTCCAGCAGCCTCACCAGCACTCGGGAAGAAGGGTGGGGGCTACGCTGCTGCCTTAATCCCAGCAACAGAGGCCCCTGACACAGAGACACACCCTCCAGCCACTCCCAGGCTCGAGGGCATCAGCTCT... | benign | 163,594 |
Variant in ANXA11 (annexin A11), chromosome 10, position 80166226—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGTTCCAGCAGCCTCACCAGCACTCGGGAAGAAGGGTGGGGGCTACGCTGCTGCCTTAATCCCAGCAACAGAGGCCCCTGACACAGAGACACACCCTCCAGCCACTCCCAGGCTCGAGGGCATCAGCTCTTCTCCACAGCCCGGGCAAGCACAATGACAGTGGCAGTGGTGATGAGTAGGGCTCACACAAAGGGGCATCCCCATGGATCAGAAAACTGAGCATCAGAGAGGGGTACTGGCTGGTCCGAGGCCACACAGTAAATGGTTGGGTTAAAATGTGGACCGAGGCCTGCTTTATTCAGAGTTCAGCCGGAAGCGAG... | TGTTCCAGCAGCCTCACCAGCACTCGGGAAGAAGGGTGGGGGCTACGCTGCTGCCTTAATCCCAGCAACAGAGGCCCCTGACACAGAGACACACCCTCCAGCCACTCCCAGGCTCGAGGGCATCAGCTCTTCTCCACAGCCCGGGCAAGCACAATGACAGTGGCAGTGGTGATGAGTAGGGCTCACACAAAGGGGCATCCCCATGGATCAGAAAACTGAGCATCAGAGAGGGGTACTGGCTGGTCCGAGGCCACACAGTAAATGGTTGGGTTAAAATGTGGACCGAGGCCTGCTTTATTCAGAGTTCAGCCGGAAGCGAG... | benign | 163,600 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 84194769, gene CDHR1 (cadherin related family member 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cone-rod_dystrophy_15'] | ATCCGCCATTGCACTCCAGCCTGGGTGACCGAGTGAGACTCCAGCTCAAAAAAAAAAAGAGTTTGAACCTTCTTTGGAGCCAACCCAAACTGTATGTGAATCCAAGCTCTGCACCTCAGAGAGAATAAGTCACTTGCTTGGTCGTACACAGCCAATGAGGAAATCTCCCTCCTCTGCAAAGCAGAGAAAATCACATTGGGAGAGCAGTGCAGGTCAAATAAGATAATATGGGCAAATATACATAAGCACACATACAGCACATGGCATGTAGGCTACTCCTTCCCCTTCCCTCTCCAGTGCATGGCTGTTGACTGAGGGAA... | ATCCGCCATTGCACTCCAGCCTGGGTGACCGAGTGAGACTCCAGCTCAAAAAAAAAAAGAGTTTGAACCTTCTTTGGAGCCAACCCAAACTGTATGTGAATCCAAGCTCTGCACCTCAGAGAGAATAAGTCACTTGCTTGGTCGTACACAGCCAATGAGGAAATCTCCCTCCTCTGCAAAGCAGAGAAAATCACATTGGGAGAGCAGTGCAGGTCAAATAAGATAATATGGGCAAATATACATAAGCACACATACAGCACATGGCATGTAGGCTACTCCTTCCCCTTCCCTCTCCAGTGCATGGCTGTTGACTGAGGGAA... | pathogenic | 163,683 |
Mutation found at chromosome 10 position 84196543, gene CDHR1 (cadherin related family member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | GCCCCCGCCCGCGGCTGGGAGCCTGTCGCTCCGCTCTGCGCCGCTAATTGGTCTCGTCAGGCGGCCGGCAGGAGCAGATCCGAGCCGTGTCATCCTCTTAGCGCCCTCACGCCACCCGCCGCTCCCGCCCCGTGCCCCCTCCCGCCGCGGCTGCAGTCGCCGCTACCCCCATTGTGGTCTCTGCCCTCCCCGCGGGCCCAGGGCATGCTCCGTGCCCCTGCGCCCGGTCTCGGCGGCGGCAGGCGACACTCCGCGCCGGCGGAGACATGAGGCGCTGCCGGTGGGCCGCCCTGGCCCTGGGGCTGCTGCGCCTCTGCTTG... | GCCCCCGCCCGCGGCTGGGAGCCTGTCGCTCCGCTCTGCGCCGCTAATTGGTCTCGTCAGGCGGCCGGCAGGAGCAGATCCGAGCCGTGTCATCCTCTTAGCGCCCTCACGCCACCCGCCGCTCCCGCCCCGTGCCCCCTCCCGCCGCGGCTGCAGTCGCCGCTACCCCCATTGTGGTCTCTGCCCTCCCCGCGGGCCCAGGGCATGCTCCGTGCCCCTGCGCCCGGTCTCGGCGGCGGCAGGCGACACTCCGCGCCGGCGGAGACATGAGGCGCTGCCGGTGGGCCGCCCTGGCCCTGGGGCTGCTGCGCCTCTGCTTG... | pathogenic | 163,689 |
Mutation at chromosome 10, position 84196647, within CDHR1 (cadherin related family member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinitis_pigmentosa'] | CCTCACGCCACCCGCCGCTCCCGCCCCGTGCCCCCTCCCGCCGCGGCTGCAGTCGCCGCTACCCCCATTGTGGTCTCTGCCCTCCCCGCGGGCCCAGGGCATGCTCCGTGCCCCTGCGCCCGGTCTCGGCGGCGGCAGGCGACACTCCGCGCCGGCGGAGACATGAGGCGCTGCCGGTGGGCCGCCCTGGCCCTGGGGCTGCTGCGCCTCTGCTTGGGTGAGTGGCCGCTGGGCCGCGCTGGCCGCGTGGATGGCGAGGGAGATGGGCGCTGGCGTCACCCAGGTGGCCAGAGGGACATGGTCCTGGACCACTTCCAGAG... | CCTCACGCCACCCGCCGCTCCCGCCCCGTGCCCCCTCCCGCCGCGGCTGCAGTCGCCGCTACCCCCATTGTGGTCTCTGCCCTCCCCGCGGGCCCAGGGCATGCTCCGTGCCCCTGCGCCCGGTCTCGGCGGCGGCAGGCGACACTCCGCGCCGGCGGAGACATGAGGCGCTGCCGGTGGGCCGCCCTGGCCCTGGGGCTGCTGCGCCTCTGCTTGGGTGAGTGGCCGCTGGGCCGCGCTGGCCGCGTGGATGGCGAGGGAGATGGGCGCTGGCGTCACCCAGGTGGCCAGAGGGACATGGTCCTGGACCACTTCCAGAG... | pathogenic | 163,690 |
Variant in gene CDHR1 (cadherin related family member 1), located at chromosome 10 position 84197824: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_65'] | CAGTCCTGGAGACCAGGGCTCCCCCCCACAGACAGGGTCGCCCCGCGAGGCAGGCAGCTACAGCTGCCCCTTATGGCTGTGTGACCTTGAACAAATGTATTTACCTCCCTGAGCCCCAGGTCTCTAGGCTTTAAAACGGCCTAAGAACATCCAACTTGCTGAGATATGCAGAGAGAGGGGAGGAGAAAGGGGAGATTTCACACTCCTTCTCCCTCACTTTGTGGGTAGTGGGAACCCGGGGAAAAGGGAGAGCAGAGCAAAGTAGGCACCTGGCTCAGAAATCCCTGCAGAACCAGGTCCAGGCATCGGGGACAGTGGTG... | CAGTCCTGGAGACCAGGGCTCCCCCCCACAGACAGGGTCGCCCCGCGAGGCAGGCAGCTACAGCTGCCCCTTATGGCTGTGTGACCTTGAACAAATGTATTTACCTCCCTGAGCCCCAGGTCTCTAGGCTTTAAAACGGCCTAAGAACATCCAACTTGCTGAGATATGCAGAGAGAGGGGAGGAGAAAGGGGAGATTTCACACTCCTTCTCCCTCACTTTGTGGGTAGTGGGAACCCGGGGAAAAGGGAGAGCAGAGCAAAGTAGGCACCTGGCTCAGAAATCCCTGCAGAACCAGGTCCAGGCATCGGGGACAGTGGTG... | pathogenic | 163,693 |
Variant chromosome 10, position 84200685, gene CDHR1 (cadherin related family member 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cone-rod_dystrophy_15', 'Leber_congenital_amaurosis', 'Retinitis_pigmentosa'] | ACCCCATCGGATGCATTTACACAGGCCATGTGTGTGCGCTGGTGCAGTGCAGGGGCCCCGCCCTCAGTGCCTGGCATACTGCTGCTATCACCTTGAGGAGATCATAAAGTGTTTTTTAATATGCTGATCTTTGCCCTGATATCCCAGCCACCATGACTACTGCAAAATAACACATCATCAGACAGTCTTCTGCCTCCAGGATGAAACACAGTGTTTGGCACTAAGAGGCTGCTTAATGTTTATTGCATTAATGAATAAAAGAAGGAAGAGAGAGAGAGAGAGAGAGAGAGGAGGGATGGGCAGAGACGTGTACATTGGAG... | ACCCCATCGGATGCATTTACACAGGCCATGTGTGTGCGCTGGTGCAGTGCAGGGGCCCCGCCCTCAGTGCCTGGCATACTGCTGCTATCACCTTGAGGAGATCATAAAGTGTTTTTTAATATGCTGATCTTTGCCCTGATATCCCAGCCACCATGACTACTGCAAAATAACACATCATCAGACAGTCTTCTGCCTCCAGGATGAAACACAGTGTTTGGCACTAAGAGGCTGCTTAATGTTTATTGCATTAATGAATAAAAGAAGGAAGAGAGAGAGAGAGAGAGAGAGAGGAGGGATGGGCAGAGACGTGTACATTGGAG... | pathogenic | 163,700 |
Is chromosome 10, position 84201894, gene CDHR1 (cadherin related family member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cone-rod_dystrophy_15'] | CTTGACAATACTGAATTCTCAAAGTTTAAAATGTTTGCTAATTCAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGACAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACAGTCTCTACTAAAAATACAAAATTAGCCTGGCATGGTGGTGGGCACTTGTAATCCAAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAACCTGGATAACAAGGGCGAAGCTCC... | CTTGACAATACTGAATTCTCAAAGTTTAAAATGTTTGCTAATTCAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGACAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACAGTCTCTACTAAAAATACAAAATTAGCCTGGCATGGTGGTGGGCACTTGTAATCCAAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAACCTGGATAACAAGGGCGAAGCTCC... | pathogenic | 163,702 |
Does the variant on chromosome 10 at location 84203052 affecting gene CDHR1 (cadherin related family member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cone-rod_dystrophy_15'] | CAATAGAAAAAAGAGCAGAAGAGACAACACTCAAAAGAAGCAGAGCTCTGATTCCCCTAACAACACAGGCCCAGAAGTCCCCTGGACTGCACGGGTGCTGGAGAAACCCCACCCCTCACCACTCCCGTGACCTTCAGCGCGTTATCTAACTTTCCCAGCTCAGTTTCCTCATGTATCACATGGGAGTGATAAAAACACATCCTTGTTCCATTGTTCTGAAAACTACATATGTGTAAAGTCCCCAATAACAGCACCTGGCACAAGCGCCTGACACTACCCAGCCAGAAGGGCCCCCAGGGACCCTACCAGAGGCCGGTGCT... | CAATAGAAAAAAGAGCAGAAGAGACAACACTCAAAAGAAGCAGAGCTCTGATTCCCCTAACAACACAGGCCCAGAAGTCCCCTGGACTGCACGGGTGCTGGAGAAACCCCACCCCTCACCACTCCCGTGACCTTCAGCGCGTTATCTAACTTTCCCAGCTCAGTTTCCTCATGTATCACATGGGAGTGATAAAAACACATCCTTGTTCCATTGTTCTGAAAACTACATATGTGTAAAGTCCCCAATAACAGCACCTGGCACAAGCGCCTGACACTACCCAGCCAGAAGGGCCCCCAGGGACCCTACCAGAGGCCGGTGCT... | pathogenic | 163,706 |
Determine whether the variant at chromosome 10, position 84205917, in gene CDHR1 (cadherin related family member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinal_dystrophy'] | GGAGGAGGTGGTGCTGAGGGACAGGGCTCAGGGTAGGCTCCAAGGGAAGAGGCAGCACCTGGGCTGGGTTAAGAAGTAGCCTGGAGTTGACCAGAGAGAAAGGCTTGTGTAGGGGGGCTTAAGAGGGGACAACAGGCAGAAGTCAAGCAAGACTTATATAGTTGGGGCAGCCCTACGCCCAAACCCTTCCAGCAGCACCAAAGGCCCACAGGATAAAATCTTAATTCTGGGACCTCGCATTTGAGGCCTGGCCTCTCTCCCACCTCTTCCTTCATGCACCTCTGGGGTGGGATGAAAGCAAAAGATGGAGAGGGCAGTGA... | GGAGGAGGTGGTGCTGAGGGACAGGGCTCAGGGTAGGCTCCAAGGGAAGAGGCAGCACCTGGGCTGGGTTAAGAAGTAGCCTGGAGTTGACCAGAGAGAAAGGCTTGTGTAGGGGGGCTTAAGAGGGGACAACAGGCAGAAGTCAAGCAAGACTTATATAGTTGGGGCAGCCCTACGCCCAAACCCTTCCAGCAGCACCAAAGGCCCACAGGATAAAATCTTAATTCTGGGACCTCGCATTTGAGGCCTGGCCTCTCTCCCACCTCTTCCTTCATGCACCTCTGGGGTGGGATGAAAGCAAAAGATGGAGAGGGCAGTGA... | pathogenic | 163,712 |
Mutation found at chromosome 10 position 84211021, gene CDHR1 (cadherin related family member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['CDHR1-related_disorder'] | CTCTCTGCCCTTCCTGGCCCTACTCTTTTCTTCTCCAGCCCTCTGCCCCTCCTGCAGATTGCTCACAGATCCAGCCTCACTGAGCTTCCTGGCTTCCACACCACAACCAGCCCCAGGAATGCAGGTGGTGGTGTGGGATCAAAGGAAAACTACCAATATAATTTGCCATGTTAATAGATTGAGTAAACTATTTTATTATCAAGATAGATGTTTTATCATATGCCTTGACATTTGTCATCTCTTCTGATAACAATCTTAGCTGAAGAGGAAAAAAATACTTCTGTGATATCATTTGTAATTATGTAAAATCATAAATGTAT... | CTCTCTGCCCTTCCTGGCCCTACTCTTTTCTTCTCCAGCCCTCTGCCCCTCCTGCAGATTGCTCACAGATCCAGCCTCACTGAGCTTCCTGGCTTCCACACCACAACCAGCCCCAGGAATGCAGGTGGTGGTGTGGGATCAAAGGAAAACTACCAATATAATTTGCCATGTTAATAGATTGAGTAAACTATTTTATTATCAAGATAGATGTTTTATCATATGCCTTGACATTTGTCATCTCTTCTGATAACAATCTTAGCTGAAGAGGAAAAAAATACTTCTGTGATATCATTTGTAATTATGTAAAATCATAAATGTAT... | pathogenic | 163,715 |
Clinical classification of chromosome 10, position 84211138, gene CDHR1 (cadherin related family member 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cone-rod_dystrophy_15', 'Retinal_dystrophy', 'Retinitis_pigmentosa_65'] | AATGCAGGTGGTGGTGTGGGATCAAAGGAAAACTACCAATATAATTTGCCATGTTAATAGATTGAGTAAACTATTTTATTATCAAGATAGATGTTTTATCATATGCCTTGACATTTGTCATCTCTTCTGATAACAATCTTAGCTGAAGAGGAAAAAAATACTTCTGTGATATCATTTGTAATTATGTAAAATCATAAATGTATTATAAAATGCATATCATATATGAACATATATAATATGTTAATAGGAAAAGTAAATACTTCACTGACACTATTAAAATTATCTTATTTATAATTATACACATATACACATACTCTCCT... | AATGCAGGTGGTGGTGTGGGATCAAAGGAAAACTACCAATATAATTTGCCATGTTAATAGATTGAGTAAACTATTTTATTATCAAGATAGATGTTTTATCATATGCCTTGACATTTGTCATCTCTTCTGATAACAATCTTAGCTGAAGAGGAAAAAAATACTTCTGTGATATCATTTGTAATTATGTAAAATCATAAATGTATTATAAAATGCATATCATATATGAACATATATAATATGTTAATAGGAAAAGTAAATACTTCACTGACACTATTAAAATTATCTTATTTATAATTATACACATATACACATACTCTCCT... | pathogenic | 163,717 |
The mutation impacting CDHR1 (cadherin related family member 1) on chromosome 10 at position 84211662: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | TGCTTAGAGAATCTGAGAGAAAAGACAAAAAAAAAAAAAAAGAAACTCTTAGAAACTCAGCAAAATTGCCAACATGGCTGATTACAAAGTTAATGCACAAAATCCAGTAGTTTTCCTACATACAAAAAATAATAAGAAAATATGGGATAAAAATTATCTTTTACAATAACAACCAACACATAAAATTTGTAGGAATTACCATAAGAAATATGTATCATGCAAATGATGAAAAATGCTAAATTTCACAAAGAGACATAAAGAAAGAGATGTAAAGGCATACCTTGTTTAAAAAGTTCAAACTCTCCTTAAGTTAATAAAGA... | TGCTTAGAGAATCTGAGAGAAAAGACAAAAAAAAAAAAAAAGAAACTCTTAGAAACTCAGCAAAATTGCCAACATGGCTGATTACAAAGTTAATGCACAAAATCCAGTAGTTTTCCTACATACAAAAAATAATAAGAAAATATGGGATAAAAATTATCTTTTACAATAACAACCAACACATAAAATTTGTAGGAATTACCATAAGAAATATGTATCATGCAAATGATGAAAAATGCTAAATTTCACAAAGAGACATAAAGAAAGAGATGTAAAGGCATACCTTGTTTAAAAAGTTCAAACTCTCCTTAAGTTAATAAAGA... | pathogenic | 163,720 |
Does the variant impacting CDHR1 (cadherin related family member 1) on chromosome 10, position 84214556, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cone-rod_dystrophy_15', 'Cone_dystrophy', 'Macular_dystrophy,_retinal,_5', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_65'] | TTCCCACCATGGACAAAGGACTTTAAGACATTTTGTATATCCCCATCCCCACCTCAACAGAGAATTAAACTCTGAGAAAGAAGATATTGCTATTCAACAAATGAAAAAAACAGGCCAGGTGGGTTAAGTGTTTGGCTTGCCTTCACATAGCTGGTCTGCCTGCTTTTCAAAAGAGTGGTTTTCTCACCGCACTTTGTCATTTTGCCAATGTGGCAAAAAGGATGAACTCTGAAACCCAGCAGACTTGACTTTGAATCCTGACTCCCTTTCTTATACCTCTGCATCCATGGGAAAGCCACTTTGCATCTAAGCTTTCATTT... | TTCCCACCATGGACAAAGGACTTTAAGACATTTTGTATATCCCCATCCCCACCTCAACAGAGAATTAAACTCTGAGAAAGAAGATATTGCTATTCAACAAATGAAAAAAACAGGCCAGGTGGGTTAAGTGTTTGGCTTGCCTTCACATAGCTGGTCTGCCTGCTTTTCAAAAGAGTGGTTTTCTCACCGCACTTTGTCATTTTGCCAATGTGGCAAAAAGGATGAACTCTGAAACCCAGCAGACTTGACTTTGAATCCTGACTCCCTTTCTTATACCTCTGCATCCATGGGAAAGCCACTTTGCATCTAAGCTTTCATTT... | pathogenic | 163,734 |
Variant on chromosome 10, at position 84214586, affecting CDHR1 (cadherin related family member 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTTTGTATATCCCCATCCCCACCTCAACAGAGAATTAAACTCTGAGAAAGAAGATATTGCTATTCAACAAATGAAAAAAACAGGCCAGGTGGGTTAAGTGTTTGGCTTGCCTTCACATAGCTGGTCTGCCTGCTTTTCAAAAGAGTGGTTTTCTCACCGCACTTTGTCATTTTGCCAATGTGGCAAAAAGGATGAACTCTGAAACCCAGCAGACTTGACTTTGAATCCTGACTCCCTTTCTTATACCTCTGCATCCATGGGAAAGCCACTTTGCATCTAAGCTTTCATTTCTGCATCTGTAATATGGATTCACCAATATT... | TTTTGTATATCCCCATCCCCACCTCAACAGAGAATTAAACTCTGAGAAAGAAGATATTGCTATTCAACAAATGAAAAAAACAGGCCAGGTGGGTTAAGTGTTTGGCTTGCCTTCACATAGCTGGTCTGCCTGCTTTTCAAAAGAGTGGTTTTCTCACCGCACTTTGTCATTTTGCCAATGTGGCAAAAAGGATGAACTCTGAAACCCAGCAGACTTGACTTTGAATCCTGACTCCCTTTCTTATACCTCTGCATCCATGGGAAAGCCACTTTGCATCTAAGCTTTCATTTCTGCATCTGTAATATGGATTCACCAATATT... | benign | 163,735 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 86681500, gene LDB3 (LIM domain binding 3). What disease(s) is it linked to if pathogenic? | benign | TGACCCACCTGGAAGCCCAGAACAAGATCAAGTCTGCCAGCTACAACTTGAGCCTCACCCTGCAGAAGTAGGTGGGAGCTCTCCAGAGCAGGGGGCGGAGGTTTGGGTGTGGGCATGGGGCAGGGGCCAAAAGAGGGATTGTCCCATAGCAATTGAGTGGGCCCCGCCCTGGGCTACAAAACTGTGCAGGAAGATAAGGACAGCCCTGGGCCAGAGGAATGAACAGGCCCAAGTCGCTGTCAAGCACCTAGAGGCAGACATTACTGCCTCACTTTACAGTTAAGGCAGAGATGGTGGTCCTGGTGCTGCCCGTACGTGGG... | TGACCCACCTGGAAGCCCAGAACAAGATCAAGTCTGCCAGCTACAACTTGAGCCTCACCCTGCAGAAGTAGGTGGGAGCTCTCCAGAGCAGGGGGCGGAGGTTTGGGTGTGGGCATGGGGCAGGGGCCAAAAGAGGGATTGTCCCATAGCAATTGAGTGGGCCCCGCCCTGGGCTACAAAACTGTGCAGGAAGATAAGGACAGCCCTGGGCCAGAGGAATGAACAGGCCCAAGTCGCTGTCAAGCACCTAGAGGCAGACATTACTGCCTCACTTTACAGTTAAGGCAGAGATGGTGGTCCTGGTGCTGCCCGTACGTGGG... | benign | 163,809 |
Benign or pathogenic: chromosome 10, position 86691878, gene LDB3 (LIM domain binding 3) variant? Disease(s) if pathogenic? | benign | AGTGTTTTCTGTGGCAAGAAGAACAAGCTGAAAGTGGGTCCAGAGAGTGGACTCAGGCCAAGGGCCAAGGACTGCAGGACCTGTTCCATCTTCCCTGCATATATTCTCCCTGAGCCTTGGTGTCATGAAAGGCACAGCAGTTTCCTTATCTGACTCCCAGTCTTGGTCACAGCAGCAACAAGAGTCCCTGGTCTTTGCACGGGGTTGTGGGAAATGAAGCCAGAAATGCTTTCTTGAACCCTTGGAGCCAAGAAAGGCACAGGGGAGCTCCTCCTGGGCACATTCCAGGGAAACAGCAGCAAACACCTTCCACCTGCTCT... | AGTGTTTTCTGTGGCAAGAAGAACAAGCTGAAAGTGGGTCCAGAGAGTGGACTCAGGCCAAGGGCCAAGGACTGCAGGACCTGTTCCATCTTCCCTGCATATATTCTCCCTGAGCCTTGGTGTCATGAAAGGCACAGCAGTTTCCTTATCTGACTCCCAGTCTTGGTCACAGCAGCAACAAGAGTCCCTGGTCTTTGCACGGGGTTGTGGGAAATGAAGCCAGAAATGCTTTCTTGAACCCTTGGAGCCAAGAAAGGCACAGGGGAGCTCCTCCTGGGCACATTCCAGGGAAACAGCAGCAAACACCTTCCACCTGCTCT... | benign | 163,861 |
Determine if the mutation at chromosome 10, position 86699239 in gene LDB3 (LIM domain binding 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGATTTTTATATGCTAGCAATTCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCACCACCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCGGCTAATTTTGTATTGTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCAGCCTCGGTCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCC... | TGATTTTTATATGCTAGCAATTCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCACCACCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCGGCTAATTTTGTATTGTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCAGCCTCGGTCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCC... | benign | 163,874 |
Classify the chromosome 10 variant at position 86699239 affecting gene LDB3 (LIM domain binding 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGATTTTTATATGCTAGCAATTCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCACCACCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCGGCTAATTTTGTATTGTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCAGCCTCGGTCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCC... | TGATTTTTATATGCTAGCAATTCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCACCACCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCGGCTAATTTTGTATTGTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCAGCCTCGGTCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCC... | benign | 163,875 |
Chromosome 10, position 86699239, gene LDB3 (LIM domain binding 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGATTTTTATATGCTAGCAATTCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCACCACCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCGGCTAATTTTGTATTGTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCAGCCTCGGTCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCC... | TGATTTTTATATGCTAGCAATTCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCACCACCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCGGCTAATTTTGTATTGTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCAGCCTCGGTCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCGCC... | benign | 163,876 |
Is the chromosome 10, position 86716307 variant in LDB3 (LIM domain binding 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTTGGCTATGCTATCAAGACTCCACAGCAGGGGGTCTCCTTCATGTTGAAAATGACTCCTCCCTGACATGTTGCACTGAGATTTTCTAGAAATTGGACTCATATTCTTTACAGAGGCAGCTTGGGATGATAGAATGAATGGATTTGGAGATGTATTCCCACTTACTAGCTCTGTCTGAGCCTCAGTGACCTCAAGTGTAAAGAGGGAATAATGTGAAGACCGATTCAGATGACAGATGCTATGTGCCTCGTTACCCCTAAAGGGGAGGAAGATTCCTTATGGAGAAGGTATTATCTTTTTTTTTTTTTTTTTTTTGAGAT... | CTTGGCTATGCTATCAAGACTCCACAGCAGGGGGTCTCCTTCATGTTGAAAATGACTCCTCCCTGACATGTTGCACTGAGATTTTCTAGAAATTGGACTCATATTCTTTACAGAGGCAGCTTGGGATGATAGAATGAATGGATTTGGAGATGTATTCCCACTTACTAGCTCTGTCTGAGCCTCAGTGACCTCAAGTGTAAAGAGGGAATAATGTGAAGACCGATTCAGATGACAGATGCTATGTGCCTCGTTACCCCTAAAGGGGAGGAAGATTCCTTATGGAGAAGGTATTATCTTTTTTTTTTTTTTTTTTTTGAGAT... | benign | 163,910 |
The mutation in gene LDB3 (LIM domain binding 3) at chromosome 10, position 86716377—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTGCACTGAGATTTTCTAGAAATTGGACTCATATTCTTTACAGAGGCAGCTTGGGATGATAGAATGAATGGATTTGGAGATGTATTCCCACTTACTAGCTCTGTCTGAGCCTCAGTGACCTCAAGTGTAAAGAGGGAATAATGTGAAGACCGATTCAGATGACAGATGCTATGTGCCTCGTTACCCCTAAAGGGGAGGAAGATTCCTTATGGAGAAGGTATTATCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGGTCACTGCAAGCTCCGCCTCCT... | TTGCACTGAGATTTTCTAGAAATTGGACTCATATTCTTTACAGAGGCAGCTTGGGATGATAGAATGAATGGATTTGGAGATGTATTCCCACTTACTAGCTCTGTCTGAGCCTCAGTGACCTCAAGTGTAAAGAGGGAATAATGTGAAGACCGATTCAGATGACAGATGCTATGTGCCTCGTTACCCCTAAAGGGGAGGAAGATTCCTTATGGAGAAGGTATTATCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGGTCACTGCAAGCTCCGCCTCCT... | benign | 163,913 |
Variant in BMPR1A (bone morphogenetic protein receptor type 1A), chromosome 10, position 86876055—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Juvenile_polyposis_syndrome'] | TTACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATGTTTCATGTCATCCATATTAGAAGTTCAGTTTCAT... | TTACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATGTTTCATGTCATCCATATTAGAAGTTCAGTTTCAT... | pathogenic | 163,981 |
Does the chromosome 10 mutation at position 86876057 within gene BMPR1A (bone morphogenetic protein receptor type 1A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Juvenile_polyposis_syndrome'] | ACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATGTTTCATGTCATCCATATTAGAAGTTCAGTTTCATCT... | ACTTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATGTTTCATGTCATCCATATTAGAAGTTCAGTTTCATCT... | pathogenic | 163,982 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 86876059, gene BMPR1A (bone morphogenetic protein receptor type 1A). What disease(s) is it linked to if pathogenic? | pathogenic; ['Generalized_juvenile_polyposis/juvenile_polyposis_coli', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATGTTTCATGTCATCCATATTAGAAGTTCAGTTTCATCTTA... | TTAGATATTATAAAGTAGAAAGCTCAGGTTATTAATGTAGAAATCACACCAGGGTCATTGTGTCATAAATAAGCAAGATCTTTGTCATTCAGGAATAGTTCAAGCTGAAAGTCAATAAAATCAAACCACATGAAACAATGGGATGGGGGTAAAGTAGAATGATATATATCTTGATACTAATTAGCCTTTTCCCCCGTTATTTATTTAACAATTTTACTTTGAGGCATTTAAAAGTTCACTGTCTATATTAATAATCACCAAACCTTAATTGGAGAGATTATGTTTCATGTCATCCATATTAGAAGTTCAGTTTCATCTTA... | pathogenic | 163,984 |
Does the variant impacting BMPR1A (bone morphogenetic protein receptor type 1A) on chromosome 10, position 86890047, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GATGTTTCTAACATAAAGGAGGTCTTTCCGCTTTGTAGCAATCAGATCCAACGGAAGCCTTGACATTATATTACGGAATTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAA... | GATGTTTCTAACATAAAGGAGGTCTTTCCGCTTTGTAGCAATCAGATCCAACGGAAGCCTTGACATTATATTACGGAATTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAA... | benign | 164,002 |
A genetic variant on chromosome 10, position 86890104, affects the gene BMPR1A (bone morphogenetic protein receptor type 1A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | CCTTGACATTATATTACGGAATTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAG... | CCTTGACATTATATTACGGAATTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAG... | pathogenic | 164,014 |
Does the variant on chromosome 10 at location 86890114 affecting gene BMPR1A (bone morphogenetic protein receptor type 1A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | ATATTACGGAATTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCT... | ATATTACGGAATTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCT... | pathogenic | 164,017 |
A genetic variant at chromosome 10, position 86890117, affecting gene BMPR1A (bone morphogenetic protein receptor type 1A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome', 'Polyposis_syndrome,_hereditary_mixed,_2'] | TTACGGAATTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGA... | TTACGGAATTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGA... | pathogenic | 164,018 |
Variant at chromosome 10, position 86890125, gene BMPR1A (bone morphogenetic protein receptor type 1A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Juvenile_polyposis_syndrome'] | TTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGA... | TTTATTTCTGAAAGGAGAGTGGTGTGGGGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGA... | pathogenic | 164,020 |
Mutation found at chromosome 10 position 86890152, gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTG... | GGGGCGCGGGGATGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTG... | pathogenic | 164,031 |
Clinical classification of chromosome 10, position 86890164, gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Juvenile_polyposis_syndrome'] | TGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCACCAGTGCACT... | TGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCACCAGTGCACT... | pathogenic | 164,035 |
Is the genetic mutation found on chromosome 10 at position 86890164, within the gene BMPR1A (bone morphogenetic protein receptor type 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCACCAGTGCACT... | TGAGTAATATATGTATGTACACAAACTTCCAGCTTTTTTTTTTTTTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCACCAGTGCACT... | pathogenic | 164,036 |
Variant in gene BMPR1A (bone morphogenetic protein receptor type 1A), located at chromosome 10 position 86890208: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCACCAGTGCACTCCAGCTTGGGTGACAGAGTGAGACTCTATCTCAAATAAAAATGT... | TTTTTTAAGTGTTTTCTCTCCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAACAAAATACAAAAAAATTAGCTAGGCGTTGTGTGGGGTGCCTGTAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCACCAGTGCACTCCAGCTTGGGTGACAGAGTGAGACTCTATCTCAAATAAAAATGT... | pathogenic | 164,049 |
A genetic variant at chromosome 10, position 86892093, affecting gene BMPR1A (bone morphogenetic protein receptor type 1A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TCCATATTTGAATGCAGGACAGAATCTGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGT... | TCCATATTTGAATGCAGGACAGAATCTGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGT... | benign | 164,059 |
A mutation at chromosome position 86892110 on chromosome 10 in gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GACAGAATCTGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACAT... | GACAGAATCTGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACAT... | benign | 164,060 |
For chromosome 10, position 86892110, gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GACAGAATCTGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACAT... | GACAGAATCTGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACAT... | benign | 164,062 |
Chromosome 10, position 86892119, gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACATTATTCCATT... | TGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACATTATTCCATT... | benign | 164,066 |
Does the variant on chromosome 10 at location 86892138 affecting gene BMPR1A (bone morphogenetic protein receptor type 1A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Generalized_juvenile_polyposis/juvenile_polyposis_coli', 'Juvenile_polyposis_syndrome'] | CACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACATTATTCCATTAAATGATTGATAGGTGAGT... | CACTGGGATGAAATCAGACTCCGACCAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACATTATTCCATTAAATGATTGATAGGTGAGT... | pathogenic | 164,071 |
Considering the genetic mutation at chromosome 10, position 86892168, impacting BMPR1A (bone morphogenetic protein receptor type 1A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | AAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACATTATTCCATTAAATGATTGATAGGTGAGTTACTATATTAGAATTATGTTATAATGCAGC... | AAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAGTGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCATGTAAGTATTTTATGCAGCCCTTCTTAAGAGTTAGGAGAATAGAGTTGCATTTAGTGCTATTTTAAGAATTATTAAACTTGTCTGCGGTTTTTTTTTCATTCATATATAGTATCTTTCCAGAAAGCCAAAAAGCCTTTTGTTTTGTATATTAGAACATTATTCCATTAAATGATTGATAGGTGAGTTACTATATTAGAATTATGTTATAATGCAGC... | pathogenic | 164,076 |
Clinically, how would you classify the variant at chromosome 10, position 86899782, gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GTAGCTGGGACCACAGGCGTGTACCACCACACCTGGCTGATTTAAAAATTTTTTTAGAGATGGGGTCTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAA... | GTAGCTGGGACCACAGGCGTGTACCACCACACCTGGCTGATTTAAAAATTTTTTTAGAGATGGGGTCTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAA... | benign | 164,097 |
Is the genetic change at chromosome 10, position 86899818, within gene BMPR1A (bone morphogenetic protein receptor type 1A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | CTGATTTAAAAATTTTTTTAGAGATGGGGTCTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAA... | CTGATTTAAAAATTTTTTTAGAGATGGGGTCTCACTATTTTGCCCAGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAA... | pathogenic | 164,113 |
A genetic alteration at chromosome 10, position 86899863, in gene BMPR1A (bone morphogenetic protein receptor type 1A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | AGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTG... | AGCCTGATCTCAGACTCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTG... | pathogenic | 164,130 |
Does the variant impacting BMPR1A (bone morphogenetic protein receptor type 1A) on chromosome 10, position 86899878, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAG... | TCCTCCGCTCAAGCCATTCTGCCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAG... | pathogenic | 164,132 |
Does the variant impacting BMPR1A (bone morphogenetic protein receptor type 1A) on chromosome 10, position 86899899, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCT... | CCACTTCAGCTTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGTTCCCAGTTCATCTTTTTTTAACCTGTATTTTTTAGCACACTAAAGCCTAGAGATAAATTACTTGCTCAAGTTCACAAAGTGAACAACTGGCAAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCT... | benign | 164,135 |
Benign or pathogenic: chromosome 10, position 86900037, gene BMPR1A (bone morphogenetic protein receptor type 1A) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | AAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCTCAGCCTCCCAAGTAGCCACCACACCCAGTTTAAAGTCTACTTTCTTTCCCTTTTAAAGAAAAGGGACGTATATAACACATATATATATAACATATATATAAACATATATACATGTTTATATGAAATGTTTATATAAAA... | AAAGCTAGGATTCAAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCTCAGCCTCCCAAGTAGCCACCACACCCAGTTTAAAGTCTACTTTCTTTCCCTTTTAAAGAAAAGGGACGTATATAACACATATATATATAACATATATATAAACATATATACATGTTTATATGAAATGTTTATATAAAA... | pathogenic | 164,148 |
Does the variant impacting BMPR1A (bone morphogenetic protein receptor type 1A) on chromosome 10, position 86900050, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Juvenile_polyposis_syndrome'] | AAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCTCAGCCTCCCAAGTAGCCACCACACCCAGTTTAAAGTCTACTTTCTTTCCCTTTTAAAGAAAAGGGACGTATATAACACATATATATATAACATATATATAAACATATATACATGTTTATATGAAATGTTTATATAAAAATATAACATTCCA... | AAACTGTTTGATTCCAAAACCCTTGTATTTTCTGTAATACTATGCTCCTTAATCTGTTGGCAGAGTCTATTTTTGGCTTCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCTCAGCCTCCCAAGTAGCCACCACACCCAGTTTAAAGTCTACTTTCTTTCCCTTTTAAAGAAAAGGGACGTATATAACACATATATATATAACATATATATAAACATATATACATGTTTATATGAAATGTTTATATAAAAATATAACATTCCA... | pathogenic | 164,153 |
Chromosome 10, position 86900128, gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCTCAGCCTCCCAAGTAGCCACCACACCCAGTTTAAAGTCTACTTTCTTTCCCTTTTAAAGAAAAGGGACGTATATAACACATATATATATAACATATATATAAACATATATACATGTTTATATGAAATGTTTATATAAAAATATAACATTCCATTATCTATTGTAGTTTCCAACACTCCATCTTTCTAAAGTCTTTAAATTACACCTGTCTTTCAGCCATCTCTCTTACAA... | TCTTTTTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCTCAGCCTCCCAAGTAGCCACCACACCCAGTTTAAAGTCTACTTTCTTTCCCTTTTAAAGAAAAGGGACGTATATAACACATATATATATAACATATATATAAACATATATACATGTTTATATGAAATGTTTATATAAAAATATAACATTCCATTATCTATTGTAGTTTCCAACACTCCATCTTTCTAAAGTCTTTAAATTACACCTGTCTTTCAGCCATCTCTCTTACAA... | benign | 164,163 |
Mutation at chromosome 10, position 86900133, within BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCTCAGCCTCCCAAGTAGCCACCACACCCAGTTTAAAGTCTACTTTCTTTCCCTTTTAAAGAAAAGGGACGTATATAACACATATATATATAACATATATATAAACATATATACATGTTTATATGAAATGTTTATATAAAAATATAACATTCCATTATCTATTGTAGTTTCCAACACTCCATCTTTCTAAAGTCTTTAAATTACACCTGTCTTTCAGCCATCTCTCTTACAAGGGCT... | TTAAAAATTATTATTTTTAGAGATAGGGTCTCACTACATTGCTCAGGCTGGACTTGAACTCCTAGGTTCAAGTGATCCTCATGCCTCAGCCTCCCAAGTAGCCACCACACCCAGTTTAAAGTCTACTTTCTTTCCCTTTTAAAGAAAAGGGACGTATATAACACATATATATATAACATATATATAAACATATATACATGTTTATATGAAATGTTTATATAAAAATATAACATTCCATTATCTATTGTAGTTTCCAACACTCCATCTTTCTAAAGTCTTTAAATTACACCTGTCTTTCAGCCATCTCTCTTACAAGGGCT... | benign | 164,165 |
Is chromosome 10, position 86912274, gene BMPR1A (bone morphogenetic protein receptor type 1A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | ACTCGGGAGGCTGAGGCAGGGAGGATTGCTTAAACCCGGGAGGCAAAGCTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAGAGTAAGACTCCATCTCAAAATAAATAAAGAAAAATAAAAATAAAGATTACCAATAGGTGAATGGTTAGCAGCTATACAGTGGAATACTATCTAGCCATTAAAGAAAAAGGTGACACTTTGTGTACTTACGTGGAATGATACCCCAGGTAAGAAGCAAGATGCAGAACGGCATCAGTGTCTCTCCAGATTACCAGAGAAACCAGAAGTAGTTTTGTTTCTAAGGA... | ACTCGGGAGGCTGAGGCAGGGAGGATTGCTTAAACCCGGGAGGCAAAGCTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAGAGTAAGACTCCATCTCAAAATAAATAAAGAAAAATAAAAATAAAGATTACCAATAGGTGAATGGTTAGCAGCTATACAGTGGAATACTATCTAGCCATTAAAGAAAAAGGTGACACTTTGTGTACTTACGTGGAATGATACCCCAGGTAAGAAGCAAGATGCAGAACGGCATCAGTGTCTCTCCAGATTACCAGAGAAACCAGAAGTAGTTTTGTTTCTAAGGA... | pathogenic | 164,184 |
Gene BMPR1A (bone morphogenetic protein receptor type 1A) variant at chromosome 10, position 86912284—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Juvenile_polyposis_syndrome'] | CTGAGGCAGGGAGGATTGCTTAAACCCGGGAGGCAAAGCTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAGAGTAAGACTCCATCTCAAAATAAATAAAGAAAAATAAAAATAAAGATTACCAATAGGTGAATGGTTAGCAGCTATACAGTGGAATACTATCTAGCCATTAAAGAAAAAGGTGACACTTTGTGTACTTACGTGGAATGATACCCCAGGTAAGAAGCAAGATGCAGAACGGCATCAGTGTCTCTCCAGATTACCAGAGAAACCAGAAGTAGTTTTGTTTCTAAGGAAACAGGGAAA... | CTGAGGCAGGGAGGATTGCTTAAACCCGGGAGGCAAAGCTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAGAGTAAGACTCCATCTCAAAATAAATAAAGAAAAATAAAAATAAAGATTACCAATAGGTGAATGGTTAGCAGCTATACAGTGGAATACTATCTAGCCATTAAAGAAAAAGGTGACACTTTGTGTACTTACGTGGAATGATACCCCAGGTAAGAAGCAAGATGCAGAACGGCATCAGTGTCTCTCCAGATTACCAGAGAAACCAGAAGTAGTTTTGTTTCTAAGGAAACAGGGAAA... | pathogenic | 164,187 |
Is the genetic mutation found on chromosome 10 at position 86912381, within the gene BMPR1A (bone morphogenetic protein receptor type 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | ATCTCAAAATAAATAAAGAAAAATAAAAATAAAGATTACCAATAGGTGAATGGTTAGCAGCTATACAGTGGAATACTATCTAGCCATTAAAGAAAAAGGTGACACTTTGTGTACTTACGTGGAATGATACCCCAGGTAAGAAGCAAGATGCAGAACGGCATCAGTGTCTCTCCAGATTACCAGAGAAACCAGAAGTAGTTTTGTTTCTAAGGAAACAGGGAAATAATTCTCTTCTAAGGAAGTGAACTTGATAGCTTAGGGATAGAGCTGGGAGGAGGATTTTTTTTTGCCATATACCCTTTTGTGTCTTTTGGATTTTA... | ATCTCAAAATAAATAAAGAAAAATAAAAATAAAGATTACCAATAGGTGAATGGTTAGCAGCTATACAGTGGAATACTATCTAGCCATTAAAGAAAAAGGTGACACTTTGTGTACTTACGTGGAATGATACCCCAGGTAAGAAGCAAGATGCAGAACGGCATCAGTGTCTCTCCAGATTACCAGAGAAACCAGAAGTAGTTTTGTTTCTAAGGAAACAGGGAAATAATTCTCTTCTAAGGAAGTGAACTTGATAGCTTAGGGATAGAGCTGGGAGGAGGATTTTTTTTTGCCATATACCCTTTTGTGTCTTTTGGATTTTA... | pathogenic | 164,204 |
Considering the variant on chromosome 10, location 86917132, involving gene BMPR1A (bone morphogenetic protein receptor type 1A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Juvenile_polyposis_syndrome'] | TTTATGCTACATGAAAGAAGCCAGACACAAAAGGCTACACAAAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTAAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTTTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAAAAAGTGAGAATTTTTTTACGTTATTAAAATATTCTGTATCTTAATTGTGGTATTGGTGATTACATGATATA... | TTTATGCTACATGAAAGAAGCCAGACACAAAAGGCTACACAAAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTAAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTTTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAAAAAGTGAGAATTTTTTTACGTTATTAAAATATTCTGTATCTTAATTGTGGTATTGGTGATTACATGATATA... | pathogenic | 164,220 |
Clinical significance of chromosome 10, position 86917218, gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | CATGCACCACCATGCCCAGCTAATTTTTGTATTTTTTTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAAAAAGTGAGAATTTTTTTACGTTATTAAAATATTCTGTATCTTAATTGTGGTATTGGTGATTACATGATATAGATTTGTCCAAGGCTTGTTGAACTTTTCTCAAAAAGGGTACATTTTATATAAATTATACCTCAATAATCTTGACTTAAAAACTTAC... | CATGCACCACCATGCCCAGCTAATTTTTGTATTTTTTTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAAAAAGTGAGAATTTTTTTACGTTATTAAAATATTCTGTATCTTAATTGTGGTATTGGTGATTACATGATATAGATTTGTCCAAGGCTTGTTGAACTTTTCTCAAAAAGGGTACATTTTATATAAATTATACCTCAATAATCTTGACTTAAAAACTTAC... | pathogenic | 164,240 |
A genetic variant on chromosome 10, position 86917282, affects the gene BMPR1A (bone morphogenetic protein receptor type 1A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAAAAAGTGAGAATTTTTTTACGTTATTAAAATATTCTGTATCTTAATTGTGGTATTGGTGATTACATGATATAGATTTGTCCAAGGCTTGTTGAACTTTTCTCAAAAAGGGTACATTTTATATAAATTATACCTCAATAATCTTGACTTAAAAACTTACAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGTGTTCGAGACCAGTCTGGCCAACATGGTGAAA... | TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAAAAAGTGAGAATTTTTTTACGTTATTAAAATATTCTGTATCTTAATTGTGGTATTGGTGATTACATGATATAGATTTGTCCAAGGCTTGTTGAACTTTTCTCAAAAAGGGTACATTTTATATAAATTATACCTCAATAATCTTGACTTAAAAACTTACAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGTGTTCGAGACCAGTCTGGCCAACATGGTGAAA... | pathogenic | 164,251 |
Does the genetic variant at chromosome 10, position 86919225, impacting gene BMPR1A (bone morphogenetic protein receptor type 1A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Juvenile_polyposis_syndrome'] | TTGGTAAAGGCCGATATGGAGAAGTATGGATGGGCAAATGGCGTGGCGAAAAAGTGGCGGTGAAAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAATGCGCCATGAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAA... | TTGGTAAAGGCCGATATGGAGAAGTATGGATGGGCAAATGGCGTGGCGAAAAAGTGGCGGTGAAAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAATGCGCCATGAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAA... | pathogenic | 164,287 |
A genetic variant at chromosome 10, position 86919235, affecting gene BMPR1A (bone morphogenetic protein receptor type 1A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | CCGATATGGAGAAGTATGGATGGGCAAATGGCGTGGCGAAAAAGTGGCGGTGAAAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAATGCGCCATGAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTT... | CCGATATGGAGAAGTATGGATGGGCAAATGGCGTGGCGAAAAAGTGGCGGTGAAAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAATGCGCCATGAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTT... | pathogenic | 164,290 |
Does the variant impacting BMPR1A (bone morphogenetic protein receptor type 1A) on chromosome 10, position 86919248, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome', 'Polyposis_syndrome,_hereditary_mixed,_2'] | GTATGGATGGGCAAATGGCGTGGCGAAAAAGTGGCGGTGAAAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAATGCGCCATGAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTG... | GTATGGATGGGCAAATGGCGTGGCGAAAAAGTGGCGGTGAAAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAATGCGCCATGAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTG... | pathogenic | 164,293 |
Evaluate the clinical significance of the mutation at chromosome 10, position 86919290 in gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAATGCGCCATGAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTT... | GTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAATGCGCCATGAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTT... | pathogenic | 164,306 |
Regarding the variant at chromosome 10 and position 86919362, affecting gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | GAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTTATTGGACTTACTCCCATAGTAATGAAAACCCAGTCTTTTATAGATAACTTAAGCAGTGATTTAGGGTAACAT... | GAAAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTTATTGGACTTACTCCCATAGTAATGAAAACCCAGTCTTTTATAGATAACTTAAGCAGTGATTTAGGGTAACAT... | pathogenic | 164,325 |
A genetic variant on chromosome 10, position 86919364, affects the gene BMPR1A (bone morphogenetic protein receptor type 1A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | AAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTTATTGGACTTACTCCCATAGTAATGAAAACCCAGTCTTTTATAGATAACTTAAGCAGTGATTTAGGGTAACATTA... | AAACATACTTGGTGGGTACACACTGATTCAGTCAATTTCATTTTTGACAAGGCTAGTGAGGTACAGGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTTATTGGACTTACTCCCATAGTAATGAAAACCCAGTCTTTTATAGATAACTTAAGCAGTGATTTAGGGTAACATTA... | pathogenic | 164,326 |
Does the chromosome 10 mutation at position 86919429 within gene BMPR1A (bone morphogenetic protein receptor type 1A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Juvenile_polyposis_syndrome'] | GGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTTATTGGACTTACTCCCATAGTAATGAAAACCCAGTCTTTTATAGATAACTTAAGCAGTGATTTAGGGTAACATTAACATATGTGCCTTTTCCCTTTCATAAGCTCAACAGCCCAACATGCAGTTTCATTGTACGTTCTGT... | GGTGGAAGCCTCCATATGTGCTTTGAAAATGTGTGAGTTCAACTATATACATTTGGCTAAAGGAAACCTAGTAGAATACACGGTTTGAATAAAACATAGTCCGGAATGCCAACCAAGATCTTTCTTTACTAACCAGCTGAAGAAACAGCAGTGAGTTTCAAATGGAAAATAATACTAGTTTATTGGACTTACTCCCATAGTAATGAAAACCCAGTCTTTTATAGATAACTTAAGCAGTGATTTAGGGTAACATTAACATATGTGCCTTTTCCCTTTCATAAGCTCAACAGCCCAACATGCAGTTTCATTGTACGTTCTGT... | pathogenic | 164,343 |
Mutation found at chromosome 10 position 86921507, gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAATTCAACAGGTGAGTGGTTCTTTGCCCCACTGTTTTGAAATTATTTTAATTTCCAAAAGATATTTCCCTATTTGTATTCAAGATAATGGAATTCTAAAAATGTGCATATGCTTGTTTTTAGTTACATAAATGTATAGTTGGGGGGGATTTTGTTCTTTTTACAAAAATTGTGTCCTACTTCTCCTATACATAATTCTTGATATATATATATTTTTTTGGTGTTTTTTTTTGTTTGTTTTTTGTTTTTTGTTTTTTGTTTTTTTTAAAGACAGTGTCTCACTCAGTTGCCCAGGCTGGAATATAGTAGTGTGATCTTAG... | AAATTCAACAGGTGAGTGGTTCTTTGCCCCACTGTTTTGAAATTATTTTAATTTCCAAAAGATATTTCCCTATTTGTATTCAAGATAATGGAATTCTAAAAATGTGCATATGCTTGTTTTTAGTTACATAAATGTATAGTTGGGGGGGATTTTGTTCTTTTTACAAAAATTGTGTCCTACTTCTCCTATACATAATTCTTGATATATATATATTTTTTTGGTGTTTTTTTTTGTTTGTTTTTTGTTTTTTGTTTTTTGTTTTTTTTAAAGACAGTGTCTCACTCAGTTGCCCAGGCTGGAATATAGTAGTGTGATCTTAG... | benign | 164,361 |
Is the chromosome 10, position 86921674 variant in BMPR1A (bone morphogenetic protein receptor type 1A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_polyposis_syndrome'] | AATTGTGTCCTACTTCTCCTATACATAATTCTTGATATATATATATTTTTTTGGTGTTTTTTTTTGTTTGTTTTTTGTTTTTTGTTTTTTGTTTTTTTTAAAGACAGTGTCTCACTCAGTTGCCCAGGCTGGAATATAGTAGTGTGATCTTAGCTCACTGCAACCTCGACCTCATGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTGCCACACCTAGCTAATGTTTTTATTTTTTGCGGAGATGGGGTCTCACTGTGTTGCCTAGGCTGGTCTCAAACTCCTAGGCTCAGCT... | AATTGTGTCCTACTTCTCCTATACATAATTCTTGATATATATATATTTTTTTGGTGTTTTTTTTTGTTTGTTTTTTGTTTTTTGTTTTTTGTTTTTTTTAAAGACAGTGTCTCACTCAGTTGCCCAGGCTGGAATATAGTAGTGTGATCTTAGCTCACTGCAACCTCGACCTCATGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTGCCACACCTAGCTAATGTTTTTATTTTTTGCGGAGATGGGGTCTCACTGTGTTGCCTAGGCTGGTCTCAAACTCCTAGGCTCAGCT... | pathogenic | 164,398 |
Variant on chromosome 10, at position 86923363, affecting BMPR1A (bone morphogenetic protein receptor type 1A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTGGATTAAGAGTGCTGCCCCAACCCTGCTGAGGATGTCATGTAGTATGTAGCATGTATTTAAAGAAAAATCTGAAAAATGCTAAATTCCACAATGCATCTGGCCCCAAGGAGAAAAAGAAGCTTTTATAAAATAGGACAAAAATACAAGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATG... | TTGGATTAAGAGTGCTGCCCCAACCCTGCTGAGGATGTCATGTAGTATGTAGCATGTATTTAAAGAAAAATCTGAAAAATGCTAAATTCCACAATGCATCTGGCCCCAAGGAGAAAAAGAAGCTTTTATAAAATAGGACAAAAATACAAGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATG... | benign | 164,409 |
Evaluate if the mutation on chromosome 10 at position 86923365 in BMPR1A (bone morphogenetic protein receptor type 1A) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GGATTAAGAGTGCTGCCCCAACCCTGCTGAGGATGTCATGTAGTATGTAGCATGTATTTAAAGAAAAATCTGAAAAATGCTAAATTCCACAATGCATCTGGCCCCAAGGAGAAAAAGAAGCTTTTATAAAATAGGACAAAAATACAAGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATGGC... | GGATTAAGAGTGCTGCCCCAACCCTGCTGAGGATGTCATGTAGTATGTAGCATGTATTTAAAGAAAAATCTGAAAAATGCTAAATTCCACAATGCATCTGGCCCCAAGGAGAAAAAGAAGCTTTTATAAAATAGGACAAAAATACAAGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATGGC... | benign | 164,412 |
Gene BMPR1A (bone morphogenetic protein receptor type 1A) variant at chromosome 10, position 86923425—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Juvenile_polyposis_syndrome'] | AAGAAAAATCTGAAAAATGCTAAATTCCACAATGCATCTGGCCCCAAGGAGAAAAAGAAGCTTTTATAAAATAGGACAAAAATACAAGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATGGCTGACATCTACAGCTTCGGCCTAATCATTTGGGAGATGGCTCGTCGTTGTATCACAGGAGG... | AAGAAAAATCTGAAAAATGCTAAATTCCACAATGCATCTGGCCCCAAGGAGAAAAAGAAGCTTTTATAAAATAGGACAAAAATACAAGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATGGCTGACATCTACAGCTTCGGCCTAATCATTTGGGAGATGGCTCGTCGTTGTATCACAGGAGG... | pathogenic | 164,430 |
Gene mutation in BMPR1A (bone morphogenetic protein receptor type 1A) at chromosome 10, position 86923511—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATGGCTGACATCTACAGCTTCGGCCTAATCATTTGGGAGATGGCTCGTCGTTGTATCACAGGAGGTGGGAGTTTGAGTAGTTTCTGATTATGTTGATTTACTCATCATTTTAAAAATAACAGCTCCAGTTATATAACTTTTTAGTTTTTAA... | AGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATGGCTGACATCTACAGCTTCGGCCTAATCATTTGGGAGATGGCTCGTCGTTGTATCACAGGAGGTGGGAGTTTGAGTAGTTTCTGATTATGTTGATTTACTCATCATTTTAAAAATAACAGCTCCAGTTATATAACTTTTTAGTTTTTAA... | benign | 164,451 |
Evaluate the clinical significance of the mutation at chromosome 10, position 86923511 in gene BMPR1A (bone morphogenetic protein receptor type 1A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATGGCTGACATCTACAGCTTCGGCCTAATCATTTGGGAGATGGCTCGTCGTTGTATCACAGGAGGTGGGAGTTTGAGTAGTTTCTGATTATGTTGATTTACTCATCATTTTAAAAATAACAGCTCCAGTTATATAACTTTTTAGTTTTTAA... | AGATAAACTATTTTATTTTTGGCCCTCAACTTGGACCTTGGCTTTCTTTTGTTTCAGTGACACAAATGAAGTTGATGTGCCCTTGAATACCAGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAACCACTTCCAGCCCTACATCATGGCTGACATCTACAGCTTCGGCCTAATCATTTGGGAGATGGCTCGTCGTTGTATCACAGGAGGTGGGAGTTTGAGTAGTTTCTGATTATGTTGATTTACTCATCATTTTAAAAATAACAGCTCCAGTTATATAACTTTTTAGTTTTTAA... | benign | 164,452 |
Assess the variant on chromosome 10, position 87074533, impacting GLUD1 (glutamate dehydrogenase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATTTGAAGGTTTGCCGAGGAGTGAGAGAAAAAACTCCCTTTGCCTACCTCCTAGGCTTCAAAGCTTTCTGGGCCAAGACGTCAATTTAACTGCATCCTGGGTCAATGAGGCTTTTGCACATTAAGCAAATAAATCAAATTACTAGAGTTTAAGCTGTGTTTTCTTTCAGTATTCCAATGAATCACTTTTTGACCTTTGGAATTATTAGGTACTTGTCAAGTCTGATAAAATTAAGCTGGAGATATTGCAGATATGGGTGACAAATATGACTGAATAAAGTCTGAAACCATTCAAGACTATAAAATGTGTTTGAGATTTAG... | ATTTGAAGGTTTGCCGAGGAGTGAGAGAAAAAACTCCCTTTGCCTACCTCCTAGGCTTCAAAGCTTTCTGGGCCAAGACGTCAATTTAACTGCATCCTGGGTCAATGAGGCTTTTGCACATTAAGCAAATAAATCAAATTACTAGAGTTTAAGCTGTGTTTTCTTTCAGTATTCCAATGAATCACTTTTTGACCTTTGGAATTATTAGGTACTTGTCAAGTCTGATAAAATTAAGCTGGAGATATTGCAGATATGGGTGACAAATATGACTGAATAAAGTCTGAAACCATTCAAGACTATAAAATGTGTTTGAGATTTAG... | benign | 164,513 |
Gene PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) variant at chromosome 10, position 87709326—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AATTGGGCTTTCCTAATTTGACACTGAAAGGCCGGTAGGGTCCCCTAAGTCTTGAAGCCATTTTCCTGGTCCCGAATCCAGCAGATTCCAGCCTATCTGGTTTGGGGGGTGTCTACAGTGAATCATCTGTATTCACATTTATAGAGAACTTTGCCATTTGCATGTTCATATCTGTCATCTTATGTAAACTGCCAAACAGTTCTAGTTGTAGCCCTCTTTAGTTTCTATTTTCCCGAAGTTTCTATTTCCCAAAGCAAAAAGAGGTGAGTTTTCATTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGT... | AATTGGGCTTTCCTAATTTGACACTGAAAGGCCGGTAGGGTCCCCTAAGTCTTGAAGCCATTTTCCTGGTCCCGAATCCAGCAGATTCCAGCCTATCTGGTTTGGGGGGTGTCTACAGTGAATCATCTGTATTCACATTTATAGAGAACTTTGCCATTTGCATGTTCATATCTGTCATCTTATGTAAACTGCCAAACAGTTCTAGTTGTAGCCCTCTTTAGTTTCTATTTTCCCGAAGTTTCTATTTCCCAAAGCAAAAAGAGGTGAGTTTTCATTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGT... | benign | 164,531 |
Is the variant located on chromosome 10 at position 87713312, gene PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TAGAACTAAATCAATAAAAGACAAATGTGCTTTGCACAGTGCCTGGCACATAGTTAAGTTGTCAGTAATTGTAATTAGTGTTACCTCAATGTATGAAAGTACGTGTGCCAACAATCTGGTTACATATACTTACTGTAATTTAGCTCTTTGTTTCCTGAGAGCTGAAGCAAAATGGAAGGACATTCTGTTATTTCTCTCATTTTCTGACATGAGAGAACACACCAGAGATTCAGGAGTGCCACTTCCCCTACCCCACAACCTGACATAAATACTAAGAAGAATTTATCACCTATGTCTTTATTTAAATGAAAAGGAATAAC... | TAGAACTAAATCAATAAAAGACAAATGTGCTTTGCACAGTGCCTGGCACATAGTTAAGTTGTCAGTAATTGTAATTAGTGTTACCTCAATGTATGAAAGTACGTGTGCCAACAATCTGGTTACATATACTTACTGTAATTTAGCTCTTTGTTTCCTGAGAGCTGAAGCAAAATGGAAGGACATTCTGTTATTTCTCTCATTTTCTGACATGAGAGAACACACCAGAGATTCAGGAGTGCCACTTCCCCTACCCCACAACCTGACATAAATACTAAGAAGAATTTATCACCTATGTCTTTATTTAAATGAAAAGGAATAAC... | benign | 164,535 |
The genetic variant at chromosome 10, position 87727476, affecting gene PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Spondyloepimetaphyseal_dysplasia,_PAPSS2_type'] | TAATGGTGAGAGGAGCTCACACTCCAGAGAAAGTACATGTGCGTTAATGACTTGATGTCATTTTTCACTCCTCTGTGGTTTTGGACAGATGATTCTCAACTGTGGTTGCGTTAGCAAGACCTGTGATTCCCAGATAAGTGAGATTACCAGTATCCTAAAAAATATTTAGGAAAGAGGGAGCAGGAGGGGGAAGAAAAGGTGATTTTATGCTGAAACCACCATGAATAACATCAAGAGGACTGCTCGTTTGGGATCCCATAGATTAGTGGGTTTTGTTTTGTTTTTTGAGACAGGATCTTGCTCTATCACCCAGGCTGGAG... | TAATGGTGAGAGGAGCTCACACTCCAGAGAAAGTACATGTGCGTTAATGACTTGATGTCATTTTTCACTCCTCTGTGGTTTTGGACAGATGATTCTCAACTGTGGTTGCGTTAGCAAGACCTGTGATTCCCAGATAAGTGAGATTACCAGTATCCTAAAAAATATTTAGGAAAGAGGGAGCAGGAGGGGGAAGAAAAGGTGATTTTATGCTGAAACCACCATGAATAACATCAAGAGGACTGCTCGTTTGGGATCCCATAGATTAGTGGGTTTTGTTTTGTTTTTTGAGACAGGATCTTGCTCTATCACCCAGGCTGGAG... | pathogenic | 164,551 |
Determine whether the variant at chromosome 10, position 87754701, in gene ATAD1 (ATPase family AAA domain containing 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hyperekplexia_4'] | ATGTGAAATGCATGTCTAAAACAGAAGGATAGATGTTACATAACACTAAAAGTTATTTAAAAATCAGGAAAATAGTTTCCTGAATTACTTTATGGTCTTAACATGCCTAGATGAGTCATAGTTGCTGGGATTAGTATACTTCTCTAACTTCATTTGATGATTAAAACCACGAAGAAATTGAATAACCACTCCTACTGGATATTGTGAATTTAAGAGAAGACAAAAAGAAAGGACATGTGGAGGTATACATTACTCCTTATTTTCGATTAATATGTCACCAGATTAAAATTAAATTACTGAAATTCATATTAAAACAGAAA... | ATGTGAAATGCATGTCTAAAACAGAAGGATAGATGTTACATAACACTAAAAGTTATTTAAAAATCAGGAAAATAGTTTCCTGAATTACTTTATGGTCTTAACATGCCTAGATGAGTCATAGTTGCTGGGATTAGTATACTTCTCTAACTTCATTTGATGATTAAAACCACGAAGAAATTGAATAACCACTCCTACTGGATATTGTGAATTTAAGAGAAGACAAAAAGAAAGGACATGTGGAGGTATACATTACTCCTTATTTTCGATTAATATGTCACCAGATTAAAATTAAATTACTGAAATTCATATTAAAACAGAAA... | pathogenic | 164,556 |
Clinical significance of chromosome 10, position 87863269, gene PTEN: benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTGAGGTTTCTAGTCTTCAGAGGTTGCCTGCAACTATGATGTGCACATATACAGTACTCTTTCTCAAATACAGCATAAACCCTCTTTAGACTTTGCTAGGCACTTACAATTATTGAACACACATGCAGATTGATTCTCATTCTCTCAAAGTTTGAAAAACAACTCAGTGCTTCAACCTAGGTCTCGTTAGATATTTTTTGACTCAAATTGTCGTCTGTAGTTCTACTTCCTAAGGGAAATGAAAAAACAATAAATTCCCAGACTGGTGTTGATGCTCATTCTCTTTAAGCGGGTCGACTACTTGCTTTGTAGATCCTTGA... | TTGAGGTTTCTAGTCTTCAGAGGTTGCCTGCAACTATGATGTGCACATATACAGTACTCTTTCTCAAATACAGCATAAACCCTCTTTAGACTTTGCTAGGCACTTACAATTATTGAACACACATGCAGATTGATTCTCATTCTCTCAAAGTTTGAAAAACAACTCAGTGCTTCAACCTAGGTCTCGTTAGATATTTTTTGACTCAAATTGTCGTCTGTAGTTCTACTTCCTAAGGGAAATGAAAAAACAATAAATTCCCAGACTGGTGTTGATGCTCATTCTCTTTAAGCGGGTCGACTACTTGCTTTGTAGATCCTTGA... | benign | 164,566 |
Variant at chromosome 10, position 87863921, gene PTEN (phosphatase and tensin homolog): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCTAGCGCCCAGCTCCTTTTCCCACGTTTGGGAAGGCGCAGAATAGGTCGATGTAGAGCAAGGAGTGAGTCTCAGGTCTCAGTCCTTTGGCTTGCTCTTAGGGTAGCAGGCGAGGAGTGGCACCAGTTTGGGGACTCTCTCCCCGCGTTCTGTAAGAATCGGCGGCAGCCAGCAGGCGGGGAGGCGGGGGCACGTGTTTGGATGTGGGTGCTTGTGTAACCAGTTCCCCAAGCGCCAGCCCCGACAGCGCTCCTTCGGGAGGCTGGTCCGAGCCCCTGTTTCCGCCGCGGCGCAGGAAGGGTTGGGGTTCCGCTGCCTGC... | CCTAGCGCCCAGCTCCTTTTCCCACGTTTGGGAAGGCGCAGAATAGGTCGATGTAGAGCAAGGAGTGAGTCTCAGGTCTCAGTCCTTTGGCTTGCTCTTAGGGTAGCAGGCGAGGAGTGGCACCAGTTTGGGGACTCTCTCCCCGCGTTCTGTAAGAATCGGCGGCAGCCAGCAGGCGGGGAGGCGGGGGCACGTGTTTGGATGTGGGTGCTTGTGTAACCAGTTCCCCAAGCGCCAGCCCCGACAGCGCTCCTTCGGGAGGCTGGTCCGAGCCCCTGTTTCCGCCGCGGCGCAGGAAGGGTTGGGGTTCCGCTGCCTGC... | benign | 164,580 |
Is the variant located on chromosome 10 at position 87863967, gene PTEN (phosphatase and tensin homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTCGATGTAGAGCAAGGAGTGAGTCTCAGGTCTCAGTCCTTTGGCTTGCTCTTAGGGTAGCAGGCGAGGAGTGGCACCAGTTTGGGGACTCTCTCCCCGCGTTCTGTAAGAATCGGCGGCAGCCAGCAGGCGGGGAGGCGGGGGCACGTGTTTGGATGTGGGTGCTTGTGTAACCAGTTCCCCAAGCGCCAGCCCCGACAGCGCTCCTTCGGGAGGCTGGTCCGAGCCCCTGTTTCCGCCGCGGCGCAGGAAGGGTTGGGGTTCCGCTGCCTGCACCAGGCAAGAGCACCCCGAGCAAAGGAAGAAGACGACTTGCCTCC... | GTCGATGTAGAGCAAGGAGTGAGTCTCAGGTCTCAGTCCTTTGGCTTGCTCTTAGGGTAGCAGGCGAGGAGTGGCACCAGTTTGGGGACTCTCTCCCCGCGTTCTGTAAGAATCGGCGGCAGCCAGCAGGCGGGGAGGCGGGGGCACGTGTTTGGATGTGGGTGCTTGTGTAACCAGTTCCCCAAGCGCCAGCCCCGACAGCGCTCCTTCGGGAGGCTGGTCCGAGCCCCTGTTTCCGCCGCGGCGCAGGAAGGGTTGGGGTTCCGCTGCCTGCACCAGGCAAGAGCACCCCGAGCAAAGGAAGAAGACGACTTGCCTCC... | benign | 164,584 |
Clinical significance of chromosome 10, position 87863967, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTCGATGTAGAGCAAGGAGTGAGTCTCAGGTCTCAGTCCTTTGGCTTGCTCTTAGGGTAGCAGGCGAGGAGTGGCACCAGTTTGGGGACTCTCTCCCCGCGTTCTGTAAGAATCGGCGGCAGCCAGCAGGCGGGGAGGCGGGGGCACGTGTTTGGATGTGGGTGCTTGTGTAACCAGTTCCCCAAGCGCCAGCCCCGACAGCGCTCCTTCGGGAGGCTGGTCCGAGCCCCTGTTTCCGCCGCGGCGCAGGAAGGGTTGGGGTTCCGCTGCCTGCACCAGGCAAGAGCACCCCGAGCAAAGGAAGAAGACGACTTGCCTCC... | GTCGATGTAGAGCAAGGAGTGAGTCTCAGGTCTCAGTCCTTTGGCTTGCTCTTAGGGTAGCAGGCGAGGAGTGGCACCAGTTTGGGGACTCTCTCCCCGCGTTCTGTAAGAATCGGCGGCAGCCAGCAGGCGGGGAGGCGGGGGCACGTGTTTGGATGTGGGTGCTTGTGTAACCAGTTCCCCAAGCGCCAGCCCCGACAGCGCTCCTTCGGGAGGCTGGTCCGAGCCCCTGTTTCCGCCGCGGCGCAGGAAGGGTTGGGGTTCCGCTGCCTGCACCAGGCAAGAGCACCCCGAGCAAAGGAAGAAGACGACTTGCCTCC... | benign | 164,585 |
Variant at chromosome position 87864103, chromosome 10, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGCGGGGGCACGTGTTTGGATGTGGGTGCTTGTGTAACCAGTTCCCCAAGCGCCAGCCCCGACAGCGCTCCTTCGGGAGGCTGGTCCGAGCCCCTGTTTCCGCCGCGGCGCAGGAAGGGTTGGGGTTCCGCTGCCTGCACCAGGCAAGAGCACCCCGAGCAAAGGAAGAAGACGACTTGCCTCCGGAGCTATCACTGGGGAGTGGGAATTTGGAAAGTTCCCCAACTAGGGACACACGTGACCTCCTTCGGAAAGTAGTTCCGACTGTGGCCCGTGTATCCTTCCACCTCCTTTTGAACCCTCCTAGGTCTCCTCGCCCC... | GGCGGGGGCACGTGTTTGGATGTGGGTGCTTGTGTAACCAGTTCCCCAAGCGCCAGCCCCGACAGCGCTCCTTCGGGAGGCTGGTCCGAGCCCCTGTTTCCGCCGCGGCGCAGGAAGGGTTGGGGTTCCGCTGCCTGCACCAGGCAAGAGCACCCCGAGCAAAGGAAGAAGACGACTTGCCTCCGGAGCTATCACTGGGGAGTGGGAATTTGGAAAGTTCCCCAACTAGGGACACACGTGACCTCCTTCGGAAAGTAGTTCCGACTGTGGCCCGTGTATCCTTCCACCTCCTTTTGAACCCTCCTAGGTCTCCTCGCCCC... | benign | 164,586 |
Does the genetic variant at chromosome 10, position 87864482, impacting gene PTEN (phosphatase and tensin homolog), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTT... | CCAAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTT... | pathogenic | 164,596 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 87864484, gene PTEN (phosphatase and tensin homolog). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCA... | AAACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCA... | pathogenic | 164,597 |
Considering the variant on chromosome 10, location 87864486, involving gene PTEN (phosphatase and tensin homolog), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | ACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATT... | ACGTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATT... | pathogenic | 164,599 |
Evaluate the clinical significance of the mutation at chromosome 10, position 87864488 in gene PTEN (phosphatase and tensin homolog): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTT... | GTGCACGGTCCGGCCGGGGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTT... | pathogenic | 164,602 |
Does the chromosome 10 mutation at position 87864505 within gene PTEN (phosphatase and tensin homolog) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cowden_syndrome_1', 'Glioma_susceptibility_2', 'PTEN_hamartoma_tumor_syndrome'] | GGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGA... | GGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGA... | pathogenic | 164,603 |
The chromosome 10, position 87864505 genetic variant in gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | GGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGA... | GGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGA... | pathogenic | 164,604 |
Variant at chromosome position 87864505, chromosome 10, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | GGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGA... | GGCGCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGA... | pathogenic | 164,605 |
Classify the chromosome 10 variant at position 87864508 affecting gene PTEN (phosphatase and tensin homolog) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTT... | GCGCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTT... | pathogenic | 164,608 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 87864510, gene PTEN (phosphatase and tensin homolog): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTAC... | GCGGAGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTAC... | pathogenic | 164,609 |
Evaluate this variant at chromosome 10, position 87864514, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | AGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGG... | AGCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGG... | pathogenic | 164,613 |
Is chromosome 10, position 87864515, gene PTEN (phosphatase and tensin homolog) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cowden_syndrome_1'] | GCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGG... | GCCTGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGG... | pathogenic | 164,617 |
Variant in PTEN (phosphatase and tensin homolog), chromosome 10, position 87864518—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAG... | TGGCCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAG... | pathogenic | 164,622 |
Does the chromosome 10 mutation at position 87864521 within gene PTEN (phosphatase and tensin homolog) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGA... | CCCCGGGCGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGA... | pathogenic | 164,623 |
A genetic alteration at chromosome 10, position 87864528, in gene PTEN (phosphatase and tensin homolog)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | CGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGG... | CGATCCATCCTGCCGGGTTTTCACGGCGGCCAAGGGGGGGCGGGGCTAGGTGGTCTCTGAGAACCGAGCTTGACTCCGACGCCGCGAACCGACCTGGAGCCCGAGGGGAAAGATGCTCGACTCTCTTGGGGGCACCGGAGCGGGCGCAGGAGAGGCCTGCGGGGTGCGTCCCACTCACAGGGATCCTCTTTCAGTTCATTTAGATAGGTGCCCTTTGGGCCCTTGAAATTCAACGGCTATGTGTTCACGTTCAGCACGCTCGGCTGAGAGCTTTCATTTTTAGGGCAAACGAGCCGAGTTACCGGGGAAGCGAGAGGTGG... | pathogenic | 164,625 |
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