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 |
|---|---|---|---|---|---|
Gene PTEN (phosphatase and tensin homolog) variant at chromosome 10, position 87957913—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | AACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACT... | AACCATACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACT... | pathogenic | 165,093 |
Is the genetic mutation found on chromosome 10 at position 87957918, within the gene PTEN (phosphatase and tensin homolog), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cowden_syndrome_1'] | TACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTT... | TACTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTT... | pathogenic | 165,097 |
Variant in gene PTEN (phosphatase and tensin homolog), located at chromosome 10 position 87957920: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTA... | CTAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTA... | pathogenic | 165,098 |
Is the variant located on chromosome 10 at position 87957921, gene PTEN (phosphatase and tensin homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cowden_syndrome_1', 'likely other unspecified diseases'] | TAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTAT... | TAATATTGGACTTCTGCTTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTAT... | pathogenic | 165,099 |
Variant at chromosome 10, position 87957938, gene PTEN (phosphatase and tensin homolog): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAG... | TTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAG... | pathogenic | 165,102 |
A genetic variant on chromosome 10, position 87957938, affects the gene PTEN (phosphatase and tensin homolog). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAG... | TTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAG... | pathogenic | 165,103 |
Regarding the variant at chromosome 10 and position 87957938, affecting gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cowden_syndrome_1', 'PTEN-related_disorder', 'PTEN_hamartoma_tumor_syndrome'] | TTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAG... | TTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAG... | pathogenic | 165,105 |
Does the variant on chromosome 10 at location 87957938 affecting gene PTEN (phosphatase and tensin homolog) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAG... | TTAGTTAGGTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAG... | pathogenic | 165,106 |
Chromosome 10, position 87957946, gene PTEN (phosphatase and tensin homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cowden_syndrome_1', 'Macrocephaly-autism_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCA... | GTCTTATCTATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCA... | pathogenic | 165,111 |
Variant on chromosome 10, at position 87957955, affecting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | ATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTT... | ATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTT... | pathogenic | 165,115 |
Classify the chromosome 10 variant at position 87957956 affecting gene PTEN (phosphatase and tensin homolog) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTC... | TCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTC... | pathogenic | 165,118 |
Evaluate this variant at chromosome 10, position 87957956, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTC... | TCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTC... | pathogenic | 165,119 |
Assess the variant on chromosome 10, position 87957958, impacting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cowden_syndrome_1', 'Familial_meningioma', 'Glioma_susceptibility_2', 'Hereditary_cancer-predisposing_syndrome', 'Macrocephaly-autism_syndrome', 'Malignant_tumor_of_prostate', 'PTEN_hamartoma_tumor_syndrome'] | TGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAG... | TGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAG... | pathogenic | 165,123 |
Does the variant on chromosome 10 at location 87957959 affecting gene PTEN (phosphatase and tensin homolog) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | GAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGT... | GAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGT... | pathogenic | 165,125 |
Variant chromosome 10, position 87957961, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s)? | pathogenic; ['Cowden_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTAT... | AACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTAT... | pathogenic | 165,126 |
Assess the variant on chromosome 10, position 87957968, impacting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome'] | TATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAA... | TATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAA... | pathogenic | 165,131 |
Is the genetic variant on chromosome 10, position 87957974, gene PTEN (phosphatase and tensin homolog), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTT... | TATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTT... | pathogenic | 165,135 |
Assess the variant on chromosome 10, position 87957977, impacting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['PTEN_hamartoma_tumor_syndrome', 'Prostate_cancer,_somatic'] | TGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATG... | TGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATG... | pathogenic | 165,136 |
Variant in gene PTEN (phosphatase and tensin homolog), located at chromosome 10 position 87957995: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTT... | CTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTT... | pathogenic | 165,142 |
Benign or pathogenic: chromosome 10, position 87958012, gene PTEN (phosphatase and tensin homolog) variant? Disease(s) if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | ATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGG... | ATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGG... | pathogenic | 165,146 |
Variant in gene PTEN (phosphatase and tensin homolog), located at chromosome 10 position 87958012: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_lymphoma,_large_B-cell,_diffuse', 'PTEN_hamartoma_tumor_syndrome'] | ATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGG... | ATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGG... | pathogenic | 165,147 |
Located at chromosome 10 position 87958017, the variant affecting gene PTEN (phosphatase and tensin homolog)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGGAAGTG... | TACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGGAAGTG... | pathogenic | 165,150 |
Determine if the mutation at chromosome 10, position 87958018 in gene PTEN (phosphatase and tensin homolog) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | ACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGGAAGTGA... | ACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGGAAGTGA... | pathogenic | 165,151 |
Benign or pathogenic: chromosome 10, position 87960840, gene PTEN (phosphatase and tensin homolog) variant? Disease(s) if pathogenic? | benign | AGAGAAGGCAACGTCTTATTATTTTAAAACCAACTATCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCAT... | AGAGAAGGCAACGTCTTATTATTTTAAAACCAACTATCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCAT... | benign | 165,159 |
The mutation in gene PTEN (phosphatase and tensin homolog) at chromosome 10, position 87960866—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAACCAACTATCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAA... | AAACCAACTATCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAA... | benign | 165,161 |
Variant at chromosome 10, position 87960876, gene PTEN (phosphatase and tensin homolog): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | benign | 165,162 |
Chromosome 10, position 87960876, gene PTEN (phosphatase and tensin homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | benign | 165,163 |
Does the chromosome 10 mutation at position 87960876 within gene PTEN (phosphatase and tensin homolog) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | benign | 165,164 |
Gene mutation in PTEN (phosphatase and tensin homolog) at chromosome 10, position 87960876—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | benign | 165,165 |
Gene PTEN (phosphatase and tensin homolog) variant at chromosome 10, position 87960876—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | benign | 165,167 |
Clinically, how would you classify the variant at chromosome 10, position 87960876, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | TCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTT... | benign | 165,168 |
Mutation at chromosome 10, position 87960889, within PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATT... | GTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATT... | benign | 165,175 |
Gene PTEN (phosphatase and tensin homolog) variant at chromosome position 87960891 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAA... | GGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAA... | benign | 165,177 |
Regarding the variant at chromosome 10 and position 87960891, affecting gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | GGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAA... | GGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAA... | pathogenic | 165,178 |
Chromosome 10, position 87960892, gene PTEN (phosphatase and tensin homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | GCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAA... | GCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAA... | pathogenic | 165,181 |
Determine if the mutation at chromosome 10, position 87960912 in gene PTEN (phosphatase and tensin homolog) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cowden_syndrome_1', 'Familial_meningioma', 'Familial_prostate_cancer', 'Glioma_susceptibility_2', 'Macrocephaly-autism_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGA... | CACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGA... | pathogenic | 165,187 |
A genetic alteration at chromosome 10, position 87960916, in gene PTEN (phosphatase and tensin homolog)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAA... | TTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAA... | pathogenic | 165,191 |
Evaluate this variant at chromosome 10, position 87960920, 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', 'PTEN_hamartoma_tumor_syndrome'] | GAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTG... | GAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTG... | pathogenic | 165,194 |
A genetic alteration at chromosome 10, position 87960923, in gene PTEN (phosphatase and tensin homolog)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cowden_syndrome_1'] | GCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAA... | GCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAA... | pathogenic | 165,198 |
Evaluate the clinical significance of the mutation at chromosome 10, position 87960954 in gene PTEN (phosphatase and tensin homolog): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | GTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTA... | GTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTA... | pathogenic | 165,209 |
Variant chromosome 10, position 87960954, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s)? | pathogenic; ['Cowden_syndrome_1', 'Macrocephaly-autism_syndrome'] | GTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTA... | GTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTA... | pathogenic | 165,210 |
Regarding the variant found on chromosome 10 at position 87960957 in gene PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACT... | CGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACT... | pathogenic | 165,211 |
A mutation at chromosome position 87960957 on chromosome 10 in gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACT... | CGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACT... | pathogenic | 165,212 |
Variant at chromosome position 87960961, chromosome 10, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGT... | ACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGT... | pathogenic | 165,214 |
Mutation at chromosome 10, position 87960963, within PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN-related_disorder', 'PTEN_hamartoma_tumor_syndrome'] | CAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAG... | CAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAG... | pathogenic | 165,216 |
Regarding the variant found on chromosome 10 at position 87960963 in gene PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | CAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAG... | CAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAG... | pathogenic | 165,217 |
A genetic variant on chromosome 10, position 87960971, affects the gene PTEN (phosphatase and tensin homolog). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTG... | CCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTG... | pathogenic | 165,219 |
Mutation found at chromosome 10 position 87960975, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTT... | CATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTT... | pathogenic | 165,222 |
Is the variant located on chromosome 10 at position 87960975, gene PTEN (phosphatase and tensin homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cowden_syndrome_1', 'Global_developmental_delay', 'Hereditary_cancer-predisposing_syndrome'] | CATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTT... | CATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTT... | pathogenic | 165,223 |
Gene PTEN (phosphatase and tensin homolog) variant at chromosome position 87960975 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTT... | CATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTT... | pathogenic | 165,224 |
Gene PTEN (phosphatase and tensin homolog) variant at chromosome position 87960976 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | ATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTG... | ATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTG... | pathogenic | 165,225 |
Is the chromosome 10, position 87960990 variant in PTEN (phosphatase and tensin homolog) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGA... | TCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGA... | pathogenic | 165,231 |
A genetic variant on chromosome 10, position 87960991, affects the gene PTEN (phosphatase and tensin homolog). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Macrocephaly-autism_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGAT... | CTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGAT... | pathogenic | 165,232 |
Variant in gene PTEN (phosphatase and tensin homolog), located at chromosome 10 position 87961006: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | AAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATC... | AAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATC... | pathogenic | 165,236 |
Considering the genetic mutation at chromosome 10, position 87961020, impacting PTEN (phosphatase and tensin homolog): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | GGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCA... | GGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCA... | pathogenic | 165,240 |
Variant chromosome 10, position 87961040, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s)? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTT... | TTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTT... | pathogenic | 165,250 |
Is chromosome 10, position 87961041, gene PTEN (phosphatase and tensin homolog) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast_carcinoma', 'Cowden_syndrome', 'Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'Macrocephaly-autism_syndrome', 'Ovarian_neoplasm', 'PTEN_hamartoma_tumor_syndrome'] | TTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTT... | TTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTT... | pathogenic | 165,251 |
The chromosome 10, position 87961044 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', 'PTEN_hamartoma_tumor_syndrome'] | CCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTC... | CCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTC... | pathogenic | 165,253 |
Gene mutation in PTEN (phosphatase and tensin homolog) at chromosome 10, position 87961046—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | CAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTG... | CAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTG... | pathogenic | 165,254 |
Does the variant impacting PTEN (phosphatase and tensin homolog) on chromosome 10, position 87961047, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGA... | AGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGA... | pathogenic | 165,255 |
For chromosome 10, position 87961048, gene PTEN (phosphatase and tensin homolog): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cowden_syndrome_1', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGAT... | GCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGAT... | pathogenic | 165,256 |
Assess the variant on chromosome 10, position 87961048, impacting PTEN (phosphatase and tensin homolog): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGAT... | GCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGAT... | pathogenic | 165,257 |
Clinical classification of chromosome 10, position 87961050, gene PTEN (phosphatase and tensin homolog): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | TACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTT... | TACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTT... | pathogenic | 165,258 |
A genetic alteration at chromosome 10, position 87961054, in gene PTEN (phosphatase and tensin homolog)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | CAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAG... | CAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAG... | pathogenic | 165,261 |
Gene PTEN (phosphatase and tensin homolog) variant at chromosome 10, position 87961054—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_lymphoma,_large_B-cell,_diffuse', 'PTEN_hamartoma_tumor_syndrome'] | CAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAG... | CAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAG... | pathogenic | 165,262 |
Classify the chromosome 10 variant at position 87961060 affecting gene PTEN (phosphatase and tensin homolog) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cowden_syndrome_1'] | GCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTC... | GCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTC... | pathogenic | 165,265 |
Classify the chromosome 10 variant at position 87961064 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'] | GAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTT... | GAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTT... | pathogenic | 165,266 |
Variant at chromosome position 87961067, 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'] | GCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAA... | GCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAA... | pathogenic | 165,268 |
The mutation impacting PTEN (phosphatase and tensin homolog) on chromosome 10 at position 87961075: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cowden_syndrome_1', 'Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | ATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATA... | ATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATA... | pathogenic | 165,271 |
Classify the chromosome 10 variant at position 87961093 affecting gene PTEN (phosphatase and tensin homolog) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTAC... | CGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTAC... | pathogenic | 165,275 |
Determine whether the variant at chromosome 10, position 87961097, in gene PTEN (phosphatase and tensin homolog) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cowden_syndrome_1', 'PTEN_hamartoma_tumor_syndrome'] | GGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTACTGCA... | GGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTACTGCA... | pathogenic | 165,278 |
The chromosome 10, position 87961098 genetic variant in gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cowden_syndrome', 'Cowden_syndrome_1', 'Macrocephaly-autism_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | GTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTACTGCAA... | GTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTACTGCAA... | pathogenic | 165,280 |
The mutation impacting PTEN (phosphatase and tensin homolog) on chromosome 10 at position 87961100: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cowden_syndrome_1', 'Endometrial_carcinoma', 'Glioma_susceptibility_2'] | TGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTACTGCAAAA... | TGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTACTGCAAAA... | pathogenic | 165,284 |
Variant in PTEN (phosphatase and tensin homolog), chromosome 10, position 87965287—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['PTEN_hamartoma_tumor_syndrome'] | CAAGATGTTTTATATTTGTGATTACAAATAAAAACTCCATTATTAGTAAACAAATACAATGTCATATAGTAGTAAGTGCTATAAAAAATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGA... | CAAGATGTTTTATATTTGTGATTACAAATAAAAACTCCATTATTAGTAAACAAATACAATGTCATATAGTAGTAAGTGCTATAAAAAATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGA... | pathogenic | 165,305 |
A mutation at chromosome position 87965303 on chromosome 10 in gene PTEN (phosphatase and tensin homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Macrocephaly-autism_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | TGTGATTACAAATAAAAACTCCATTATTAGTAAACAAATACAATGTCATATAGTAGTAAGTGCTATAAAAAATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGACAAGAAAACCAGTCCA... | TGTGATTACAAATAAAAACTCCATTATTAGTAAACAAATACAATGTCATATAGTAGTAAGTGCTATAAAAAATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGACAAGAAAACCAGTCCA... | pathogenic | 165,311 |
Chromosome 10, position 87965373, gene PTEN (phosphatase and tensin homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PTEN_hamartoma_tumor_syndrome'] | AATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGACAAGAAAACCAGTCCAAGTGTAAAGACACTAGTGTGTGTTCAGCATAGGAAGGATGTAATCTGAATTTTGTGTTTAATATTCCCTG... | AATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGACAAGAAAACCAGTCCAAGTGTAAAGACACTAGTGTGTGTTCAGCATAGGAAGGATGTAATCTGAATTTTGTGTTTAATATTCCCTG... | pathogenic | 165,324 |
Chromosome 10, position 88764483, gene LIPN (lipase family member N): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTTATCAGGGAGGCTCACTCTTTGCCTGATAATTCTCTGAAGACAGACAGGAACCTAAAAATACAAACAGCAAGACTGATCTTGCTAACTGCAACCAGAGGTACTTGTTAGGGTGTAAACAGAAAGGCAGAGCCTGCATTTTGTCACCTCATTACTGATTTATCATGTGGAAAATTGCTTTGTCCCAGGAAAATGGATCCTCTCATTGTCAGAAGGAGATTTTCTAGGTTGTATGAAATTGACTCTGGGGCACCCAAGAAGAACCTCTCCTGCTCCCACTAAAATTAAGGGGCCTCCCTCTGCAGGATAAAAAACAATCT... | GTTATCAGGGAGGCTCACTCTTTGCCTGATAATTCTCTGAAGACAGACAGGAACCTAAAAATACAAACAGCAAGACTGATCTTGCTAACTGCAACCAGAGGTACTTGTTAGGGTGTAAACAGAAAGGCAGAGCCTGCATTTTGTCACCTCATTACTGATTTATCATGTGGAAAATTGCTTTGTCCCAGGAAAATGGATCCTCTCATTGTCAGAAGGAGATTTTCTAGGTTGTATGAAATTGACTCTGGGGCACCCAAGAAGAACCTCTCCTGCTCCCACTAAAATTAAGGGGCCTCCCTCTGCAGGATAAAAAACAATCT... | benign | 165,368 |
Evaluate the clinical significance of the mutation at chromosome 10, position 88941392 in gene ACTA2 (actin alpha 2, smooth muscle): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAGGCAACTCGTAACTCTTCTCAAGGGAGGATGAGGATGCGGCAGTGGCCATCTCATTTTCAAAGTCCAGAGCTACATAACACAG... | ATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAGGCAACTCGTAACTCTTCTCAAGGGAGGATGAGGATGCGGCAGTGGCCATCTCATTTTCAAAGTCCAGAGCTACATAACACAG... | benign | 165,450 |
Mutation at chromosome 10, position 88943923, within ACTA2 (actin alpha 2, smooth muscle): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAGCAATCCAAAGAGCTGAGTTAGTGAAGGTGCCCATCTGACAAAGAATGGTCAGGAGAGCACACCTGGTTGATGGATGCAGAGGGGCCTGACCTGTTCTGGGCAGAGGAGGCCAAAGTAAGGAGGTTCAGAACAGCCCTGGTCACGTTAAAGAGGAGAAATGAAGGTGTGAATGGGGAGCCATCACATCAATGGCCTGACAGGGTGGGGAGGGGAAGAAACAGTGTGCACACAAGGTTTGGCCAGGGGAAAGGAAAGTCCAGCTTCTGGCTCTGGTCCTGGCTTTGACTAATAGTCACCAAACTAATAGTTGATTAATA... | AAGCAATCCAAAGAGCTGAGTTAGTGAAGGTGCCCATCTGACAAAGAATGGTCAGGAGAGCACACCTGGTTGATGGATGCAGAGGGGCCTGACCTGTTCTGGGCAGAGGAGGCCAAAGTAAGGAGGTTCAGAACAGCCCTGGTCACGTTAAAGAGGAGAAATGAAGGTGTGAATGGGGAGCCATCACATCAATGGCCTGACAGGGTGGGGAGGGGAAGAAACAGTGTGCACACAAGGTTTGGCCAGGGGAAAGGAAAGTCCAGCTTCTGGCTCTGGTCCTGGCTTTGACTAATAGTCACCAAACTAATAGTTGATTAATA... | benign | 165,483 |
Determine whether the variant at chromosome 10, position 89003043, in gene FAS (Fas cell surface death receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autoimmune_lymphoproliferative_syndrome_type_1'] | AAGATCTAGATTGTGCCACTGTGCTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAACAAAACAAAACAAAACAACAACAACAAAAACAAAGTAAAACCCTCTTCACTGTGATGACTCTAAAGCTTGCTTTTGTCTCTCTAAATCACAACAAACCGTTTGCAGTGTGATGCTGTGCTCAAAATTGAGAATTCTCACTGACTGTTCCAGGCATCTGTCTACTCATTCTTGCCATGCTGAGGGCTGTCATTTCTCACCACTGAATGCCTTTTTTTTTTTTTTTGTGCTTCTTTTTAAAAGTCTTTTCCTGTTTGCTTTG... | AAGATCTAGATTGTGCCACTGTGCTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAACAAAACAAAACAAAACAACAACAACAAAAACAAAGTAAAACCCTCTTCACTGTGATGACTCTAAAGCTTGCTTTTGTCTCTCTAAATCACAACAAACCGTTTGCAGTGTGATGCTGTGCTCAAAATTGAGAATTCTCACTGACTGTTCCAGGCATCTGTCTACTCATTCTTGCCATGCTGAGGGCTGTCATTTCTCACCACTGAATGCCTTTTTTTTTTTTTTTGTGCTTCTTTTTAAAAGTCTTTTCCTGTTTGCTTTG... | pathogenic | 165,522 |
Variant at chromosome position 89013347, chromosome 10, gene FAS (Fas cell surface death receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autoimmune_lymphoproliferative_syndrome_type_1'] | GTAGAGTCAGTAGAAAAGCCAAAATTAGATATTATCATAATTAGTCTAGAAAAATCCCTTTAAGTCATTCATCAACTACAGGGTCACACCAACTTTCAGTAACTTAGAAGTATTCAATTTTCCCTTCTCAGAACAATTATCTGTTTCTTCAGTTCAGTTGAAGAAGAAAGTTTGCCTTGCCTTTAGCGGTTGTTTAGCTGAAAATACATTTGGGATATTTAAGCACTGTAATTGTGCTCAGAGACATACAGATTCTTCTATCTCACATTGACTTTAATGCATACACCTATTGAGTATGTATGCTTGAGTTATTTGTGTGT... | GTAGAGTCAGTAGAAAAGCCAAAATTAGATATTATCATAATTAGTCTAGAAAAATCCCTTTAAGTCATTCATCAACTACAGGGTCACACCAACTTTCAGTAACTTAGAAGTATTCAATTTTCCCTTCTCAGAACAATTATCTGTTTCTTCAGTTCAGTTGAAGAAGAAAGTTTGCCTTGCCTTTAGCGGTTGTTTAGCTGAAAATACATTTGGGATATTTAAGCACTGTAATTGTGCTCAGAGACATACAGATTCTTCTATCTCACATTGACTTTAATGCATACACCTATTGAGTATGTATGCTTGAGTTATTTGTGTGT... | pathogenic | 165,547 |
A mutation at chromosome position 89014126 on chromosome 10 in gene FAS (Fas cell surface death receptor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autoimmune_lymphoproliferative_syndrome_type_1'] | TCCTGTAGGTATTGAAATAGGTATCAGCTTTCCTTGAAAAGAAAAATAGAGAAATTAGTGATTTGGCTTTTTGTTACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTC... | TCCTGTAGGTATTGAAATAGGTATCAGCTTTCCTTGAAAAGAAAAATAGAGAAATTAGTGATTTGGCTTTTTGTTACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTC... | pathogenic | 165,552 |
Evaluate if the mutation on chromosome 10 at position 89014320 in FAS (Fas cell surface death receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autoimmune_lymphoproliferative_syndrome_type_1'] | GGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTATTTAAACATTGCTTGTGTTTGTGGGTGCATAGGTTAAAGGGGCCTCACAGATGAATTATGATATGGTACCCAAATTAAAAGTAAACTTGTACACAAAAAC... | GGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTATTTAAACATTGCTTGTGTTTGTGGGTGCATAGGTTAAAGGGGCCTCACAGATGAATTATGATATGGTACCCAAATTAAAAGTAAACTTGTACACAAAAAC... | pathogenic | 165,557 |
A genetic variant at chromosome 10, position 89214843, affecting gene LIPA (lipase A, lysosomal acid type)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lysosomal_acid_lipase_deficiency', 'Wolman_disease'] | TATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATGCTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACGTGGATGAAATTGGAAATCATCAATCTCAGTAAACTATCCCAAGAAAAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAG... | TATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATGCTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACGTGGATGAAATTGGAAATCATCAATCTCAGTAAACTATCCCAAGAAAAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAG... | pathogenic | 165,567 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 89214970, gene LIPA (lipase A, lysosomal acid type): what disease(s) if pathogenic? | pathogenic; ['Cholesteryl_ester_storage_disease', 'Lysosomal_acid_lipase_deficiency', 'Wolman_disease'] | GAAAATGTGGCACATATACACCATGGAATGCTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACGTGGATGAAATTGGAAATCATCAATCTCAGTAAACTATCCCAAGAAAAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGTAGGAGGGATAGCTTTAGGAGATAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAAC... | GAAAATGTGGCACATATACACCATGGAATGCTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACGTGGATGAAATTGGAAATCATCAATCTCAGTAAACTATCCCAAGAAAAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGTAGGAGGGATAGCTTTAGGAGATAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAAC... | pathogenic | 165,574 |
Does the variant impacting LIPA (lipase A, lysosomal acid type) on chromosome 10, position 89223701, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cholesteryl_ester_storage_disease', 'Wolman_disease'] | CTGAAAAATAAATGGCACAAAATTATGTCCTGAGGTAGAAAGAAGTCCCTGACATATTGTCAGGTGAAAAAAGAAAAGCAAGCTGTAAAACAGTAAGCAGGAGAAAAATCAATCTATTTCTACATCTACTATTTCTATCCATGTCTTTAACAGCATCTTTTTGAAAAGAGGTATAGAATAGAATGCAGAGACATTCAATATCTATGGATATGCATTTCCTCTCTGTCTAGGGTTATAGAATGATTTTATTTTCATTTTAAGATAATTTTTTTCTAGATGTAGTTTCTAAATTTTCTAGAATGAACATGACTTATTTACAT... | CTGAAAAATAAATGGCACAAAATTATGTCCTGAGGTAGAAAGAAGTCCCTGACATATTGTCAGGTGAAAAAAGAAAAGCAAGCTGTAAAACAGTAAGCAGGAGAAAAATCAATCTATTTCTACATCTACTATTTCTATCCATGTCTTTAACAGCATCTTTTTGAAAAGAGGTATAGAATAGAATGCAGAGACATTCAATATCTATGGATATGCATTTCCTCTCTGTCTAGGGTTATAGAATGATTTTATTTTCATTTTAAGATAATTTTTTTCTAGATGTAGTTTCTAAATTTTCTAGAATGAACATGACTTATTTACAT... | pathogenic | 165,599 |
For chromosome 10, position 89223821, gene LIPA (lipase A, lysosomal acid type): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lysosomal_acid_lipase_deficiency', 'Wolman_disease'] | TACATCTACTATTTCTATCCATGTCTTTAACAGCATCTTTTTGAAAAGAGGTATAGAATAGAATGCAGAGACATTCAATATCTATGGATATGCATTTCCTCTCTGTCTAGGGTTATAGAATGATTTTATTTTCATTTTAAGATAATTTTTTTCTAGATGTAGTTTCTAAATTTTCTAGAATGAACATGACTTATTTACATGATAAAATAATCAAAACTGTATTTCAAAAGTCAGGGGCCCCCATTCACATCTATCATTGGTTTAGCTCCAGTTTATTCACTGCTATTCCAAGCATATTGTGATCAGGGGTTAGTGTTGAA... | TACATCTACTATTTCTATCCATGTCTTTAACAGCATCTTTTTGAAAAGAGGTATAGAATAGAATGCAGAGACATTCAATATCTATGGATATGCATTTCCTCTCTGTCTAGGGTTATAGAATGATTTTATTTTCATTTTAAGATAATTTTTTTCTAGATGTAGTTTCTAAATTTTCTAGAATGAACATGACTTATTTACATGATAAAATAATCAAAACTGTATTTCAAAAGTCAGGGGCCCCCATTCACATCTATCATTGGTTTAGCTCCAGTTTATTCACTGCTATTCCAAGCATATTGTGATCAGGGGTTAGTGTTGAA... | pathogenic | 165,607 |
Chromosome 10, position 89225147, gene LIPA (lipase A, lysosomal acid type): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cholesteryl_ester_storage_disease', 'Wolman_disease'] | ACACTGCAAGCATACACTTATGTGTATGTAAATGGCCGTTCCAAATTTAAATACTTATAGTAATTTTTGAAAATTTGTGTATTTTAGATTCGGGGGGTCCATGTGCAGGTTTGTTACAAGGGTGGATTGCATGATGCTGAGATGCGGGCTTCTATTGATCCCATAACCACAGTACTCAATATTGGCTATAGTACTCAACAGGCTTCAGCCCTTGTCCCTCTCCCTCCTTCCTTTTGGAGTCCCCACTGTCTATTGTTCCCATCTTTATGTTTATACTTATAATGATTTCTAAAAGAAACAAATCACTAGAGTAATTATAA... | ACACTGCAAGCATACACTTATGTGTATGTAAATGGCCGTTCCAAATTTAAATACTTATAGTAATTTTTGAAAATTTGTGTATTTTAGATTCGGGGGGTCCATGTGCAGGTTTGTTACAAGGGTGGATTGCATGATGCTGAGATGCGGGCTTCTATTGATCCCATAACCACAGTACTCAATATTGGCTATAGTACTCAACAGGCTTCAGCCCTTGTCCCTCTCCCTCCTTCCTTTTGGAGTCCCCACTGTCTATTGTTCCCATCTTTATGTTTATACTTATAATGATTTCTAAAAGAAACAAATCACTAGAGTAATTATAA... | pathogenic | 165,618 |
A genetic variant at chromosome 10, position 89225172, affecting gene LIPA (lipase A, lysosomal acid type)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cholesteryl_ester_storage_disease', 'LIPA-related_disorder', 'Lysosomal_acid_lipase_deficiency', 'Wolman_disease'] | ATGTAAATGGCCGTTCCAAATTTAAATACTTATAGTAATTTTTGAAAATTTGTGTATTTTAGATTCGGGGGGTCCATGTGCAGGTTTGTTACAAGGGTGGATTGCATGATGCTGAGATGCGGGCTTCTATTGATCCCATAACCACAGTACTCAATATTGGCTATAGTACTCAACAGGCTTCAGCCCTTGTCCCTCTCCCTCCTTCCTTTTGGAGTCCCCACTGTCTATTGTTCCCATCTTTATGTTTATACTTATAATGATTTCTAAAAGAAACAAATCACTAGAGTAATTATAAATATTACAGCTTAATTTGTGACAGA... | ATGTAAATGGCCGTTCCAAATTTAAATACTTATAGTAATTTTTGAAAATTTGTGTATTTTAGATTCGGGGGGTCCATGTGCAGGTTTGTTACAAGGGTGGATTGCATGATGCTGAGATGCGGGCTTCTATTGATCCCATAACCACAGTACTCAATATTGGCTATAGTACTCAACAGGCTTCAGCCCTTGTCCCTCTCCCTCCTTCCTTTTGGAGTCCCCACTGTCTATTGTTCCCATCTTTATGTTTATACTTATAATGATTTCTAAAAGAAACAAATCACTAGAGTAATTATAAATATTACAGCTTAATTTGTGACAGA... | pathogenic | 165,622 |
Determine whether the variant at chromosome 10, position 89225233, in gene LIPA (lipase A, lysosomal acid type) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GATTCGGGGGGTCCATGTGCAGGTTTGTTACAAGGGTGGATTGCATGATGCTGAGATGCGGGCTTCTATTGATCCCATAACCACAGTACTCAATATTGGCTATAGTACTCAACAGGCTTCAGCCCTTGTCCCTCTCCCTCCTTCCTTTTGGAGTCCCCACTGTCTATTGTTCCCATCTTTATGTTTATACTTATAATGATTTCTAAAAGAAACAAATCACTAGAGTAATTATAAATATTACAGCTTAATTTGTGACAGATCTCCTCATTCAATAATCTCCATCTAGGTACAACATAAGAAGGTGACCACAGTCAGCCTGA... | GATTCGGGGGGTCCATGTGCAGGTTTGTTACAAGGGTGGATTGCATGATGCTGAGATGCGGGCTTCTATTGATCCCATAACCACAGTACTCAATATTGGCTATAGTACTCAACAGGCTTCAGCCCTTGTCCCTCTCCCTCCTTCCTTTTGGAGTCCCCACTGTCTATTGTTCCCATCTTTATGTTTATACTTATAATGATTTCTAAAAGAAACAAATCACTAGAGTAATTATAAATATTACAGCTTAATTTGTGACAGATCTCCTCATTCAATAATCTCCATCTAGGTACAACATAAGAAGGTGACCACAGTCAGCCTGA... | benign | 165,625 |
Does the chromosome 10 mutation at position 89226950 within gene LIPA (lipase A, lysosomal acid type) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Lysosomal_acid_lipase_deficiency', 'Wolman_disease'] | AGGAAACGACAGGCGTCCCCGGCCACCCCTGGGTCTGGAAGGAGGGGTAAACGGAAAAAGAAAAGCCCACTGCTCCACTGATATCAAAACGCAGGGGAGGAAGGCACAGATTATCCCTCCCCTTGCCATTTCTTCAGATCTCAGGAGGAAATCTGCGGGGAGAGGAGAGGGATGGGAGGGGTCCAAGTACCTTAATGAGATGATCTGGTAATCGTCCTAATTTGGCCATAGGGCTAGTACAGAAGGCGACGGAAGCCACAGGACCCAGGGCAAAAAACATTTTAATCCTTTTAGCCAGCTCAGGGATCTGTGAAAATGCT... | AGGAAACGACAGGCGTCCCCGGCCACCCCTGGGTCTGGAAGGAGGGGTAAACGGAAAAAGAAAAGCCCACTGCTCCACTGATATCAAAACGCAGGGGAGGAAGGCACAGATTATCCCTCCCCTTGCCATTTCTTCAGATCTCAGGAGGAAATCTGCGGGGAGAGGAGAGGGATGGGAGGGGTCCAAGTACCTTAATGAGATGATCTGGTAATCGTCCTAATTTGGCCATAGGGCTAGTACAGAAGGCGACGGAAGCCACAGGACCCAGGGCAAAAAACATTTTAATCCTTTTAGCCAGCTCAGGGATCTGTGAAAATGCT... | pathogenic | 165,627 |
Is the chromosome 10, position 89228229 variant in LIPA (lipase A, lysosomal acid type) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cholesteryl_ester_storage_disease', 'Lysosomal_acid_lipase_deficiency', 'Wolman_disease'] | CCATTTTTTTCCTGGCAATATAACCACATGTTTTGAGACCCTTCAAAACATTCATACCTTTCATATAGTAAGGCTCCTTCTAGGAATATATTGTAAGGAAAGCATGTGATGGGAACACTAAGGTGTTAGTCATAGTAAACATTAAAAGGGAGAATTAAATAAATTATAGGACAGGTTCCTAGTCCCTAATTACAAAAACTCTTGCTGACTAGAATTATGGGCAATTTTTATTTTCTTTAATTTTGCTAAATCTTCTGTTCTTCTGTTTTTCTACAGTGAACATGCATTACTTATATAATCAGCATAAATTAAAATGCATA... | CCATTTTTTTCCTGGCAATATAACCACATGTTTTGAGACCCTTCAAAACATTCATACCTTTCATATAGTAAGGCTCCTTCTAGGAATATATTGTAAGGAAAGCATGTGATGGGAACACTAAGGTGTTAGTCATAGTAAACATTAAAAGGGAGAATTAAATAAATTATAGGACAGGTTCCTAGTCCCTAATTACAAAAACTCTTGCTGACTAGAATTATGGGCAATTTTTATTTTCTTTAATTTTGCTAAATCTTCTGTTCTTCTGTTTTTCTACAGTGAACATGCATTACTTATATAATCAGCATAAATTAAAATGCATA... | pathogenic | 165,631 |
Chromosome 10, position 89228277, gene LIPA (lipase A, lysosomal acid type): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lysosomal_acid_lipase_deficiency', 'Wolman_disease'] | CATTCATACCTTTCATATAGTAAGGCTCCTTCTAGGAATATATTGTAAGGAAAGCATGTGATGGGAACACTAAGGTGTTAGTCATAGTAAACATTAAAAGGGAGAATTAAATAAATTATAGGACAGGTTCCTAGTCCCTAATTACAAAAACTCTTGCTGACTAGAATTATGGGCAATTTTTATTTTCTTTAATTTTGCTAAATCTTCTGTTCTTCTGTTTTTCTACAGTGAACATGCATTACTTATATAATCAGCATAAATTAAAATGCATATAACTTTTCAAAATTTTTTGTAAACCAAATGTACCTGTAGTTAGTTAT... | CATTCATACCTTTCATATAGTAAGGCTCCTTCTAGGAATATATTGTAAGGAAAGCATGTGATGGGAACACTAAGGTGTTAGTCATAGTAAACATTAAAAGGGAGAATTAAATAAATTATAGGACAGGTTCCTAGTCCCTAATTACAAAAACTCTTGCTGACTAGAATTATGGGCAATTTTTATTTTCTTTAATTTTGCTAAATCTTCTGTTCTTCTGTTTTTCTACAGTGAACATGCATTACTTATATAATCAGCATAAATTAAAATGCATATAACTTTTCAAAATTTTTTGTAAACCAAATGTACCTGTAGTTAGTTAT... | pathogenic | 165,635 |
Variant at chromosome 10, position 89228399, gene LIPA (lipase A, lysosomal acid type): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cholesteryl_ester_storage_disease', 'Wolman_disease'] | ACAGGTTCCTAGTCCCTAATTACAAAAACTCTTGCTGACTAGAATTATGGGCAATTTTTATTTTCTTTAATTTTGCTAAATCTTCTGTTCTTCTGTTTTTCTACAGTGAACATGCATTACTTATATAATCAGCATAAATTAAAATGCATATAACTTTTCAAAATTTTTTGTAAACCAAATGTACCTGTAGTTAGTTATATTCCACTTAACTTCAGAAGGCAGTATATTTTCTTGTTTTCTTTATGTAAGTCTCTGAACTTAGAAACTACTTGTTTTCTACTCTCTCACATCCCTATCTTGCTTCATCTAGGAAAACATGT... | ACAGGTTCCTAGTCCCTAATTACAAAAACTCTTGCTGACTAGAATTATGGGCAATTTTTATTTTCTTTAATTTTGCTAAATCTTCTGTTCTTCTGTTTTTCTACAGTGAACATGCATTACTTATATAATCAGCATAAATTAAAATGCATATAACTTTTCAAAATTTTTTGTAAACCAAATGTACCTGTAGTTAGTTATATTCCACTTAACTTCAGAAGGCAGTATATTTTCTTGTTTTCTTTATGTAAGTCTCTGAACTTAGAAACTACTTGTTTTCTACTCTCTCACATCCCTATCTTGCTTCATCTAGGAAAACATGT... | pathogenic | 165,645 |
Benign or pathogenic: chromosome 10, position 90915892, gene ANKRD1 (ankyrin repeat domain 1) variant? Disease(s) if pathogenic? | benign | GTGACTTCTATGAAAAAATCAGAAGAGTTAAAAACATGGTACCCATGGTTCCACAGAGCAACATAGACTGGGTTGGGGAAGGGCCACCTTTAAAAGAGTTATGTGCACAGACCCTGACAGCCACACATTGAAGTCACTTAGGCCATCTGCCCGGCACAGTGAGGTCAGTCTGCAGTCAGATTATGAGATCTGTAGGTATTTAAATTAGTGGCCCTATAACCTTCATTTTGGAACTTCCCCACCTCTGTAGTGTCTTTCTCTAGGAACAATCATCAGTAGACATGAATATACAGTTTTGGATAATGAGAAAATATTGTATG... | GTGACTTCTATGAAAAAATCAGAAGAGTTAAAAACATGGTACCCATGGTTCCACAGAGCAACATAGACTGGGTTGGGGAAGGGCCACCTTTAAAAGAGTTATGTGCACAGACCCTGACAGCCACACATTGAAGTCACTTAGGCCATCTGCCCGGCACAGTGAGGTCAGTCTGCAGTCAGATTATGAGATCTGTAGGTATTTAAATTAGTGGCCCTATAACCTTCATTTTGGAACTTCCCCACCTCTGTAGTGTCTTTCTCTAGGAACAATCATCAGTAGACATGAATATACAGTTTTGGATAATGAGAAAATATTGTATG... | benign | 165,702 |
Is the genetic variant on chromosome 10, position 90918980, gene ANKRD1 (ankyrin repeat domain 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TAACGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTAT... | TAACGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTAT... | benign | 165,712 |
Is the chromosome 10, position 90918980 variant in ANKRD1 (ankyrin repeat domain 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TAACGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTAT... | TAACGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTAT... | benign | 165,713 |
Regarding the variant at chromosome 10 and position 90918981, affecting gene ANKRD1 (ankyrin repeat domain 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AACGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATT... | AACGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATT... | benign | 165,714 |
Evaluate this variant at chromosome 10, position 90918983, gene ANKRD1 (ankyrin repeat domain 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | benign | 165,715 |
Does the genetic variant at chromosome 10, position 90918983, impacting gene ANKRD1 (ankyrin repeat domain 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | benign | 165,716 |
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