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 |
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome 1 at position 201084991 in CACNA1S (calcium voltage-gated channel subunit alpha1 S) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Centronuclear_myopathy', 'Congenital_myopathy_18', 'Hypokalemic_periodic_paralysis,_type_1', 'Malignant_hyperthermia,_susceptibility_to,_5'] | ATTGGGTATGTTGCTTTGCCACTTGAGGTCTCCGTTTTACCCCCGTGAAAGGAGCTGATTAGGTCATATAATCCAGCACTCATGGTCCATAATTTTTAGAAAAATGATGTCAATATCTAATTGACCTCTTCTGCACAACCTGTGGTGCCATTGGCTGATTTTGACATCAAGCCACAGCCACATGTGCCCTCCTCCCGGCTTCACTCCGTTCCGCCTCACCTTGCAAACGGGTCAGCCAGAGAGGCTGGTTGTGGTGCTCTGAGGCGATAGACAGGGTGTTGAGGGCAACGATGAGAATCACCAGCCAATAGAAGACCTTG... | ATTGGGTATGTTGCTTTGCCACTTGAGGTCTCCGTTTTACCCCCGTGAAAGGAGCTGATTAGGTCATATAATCCAGCACTCATGGTCCATAATTTTTAGAAAAATGATGTCAATATCTAATTGACCTCTTCTGCACAACCTGTGGTGCCATTGGCTGATTTTGACATCAAGCCACAGCCACATGTGCCCTCCTCCCGGCTTCACTCCGTTCCGCCTCACCTTGCAAACGGGTCAGCCAGAGAGGCTGGTTGTGGTGCTCTGAGGCGATAGACAGGGTGTTGAGGGCAACGATGAGAATCACCAGCCAATAGAAGACCTTG... | pathogenic | 20,349 |
Chromosome 1, position 201361970, gene TNNT2 (troponin T2, cardiac type): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiomyopathy', 'Cardiomyopathy,_familial_restrictive,_3', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1D', 'Hypertrophic_cardiomyopathy_2', 'Primary_dilated_cardiomyopathy', 'TNNT2-related_disorder'] | GAGAGTCCCATAAGAAGGGCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAG... | GAGAGTCCCATAAGAAGGGCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAG... | pathogenic | 20,554 |
Benign or pathogenic: chromosome 1, position 201363376, gene TNNT2 (troponin T2, cardiac type) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiomyopathy,_familial_restrictive,_3', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1D', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_2'] | TCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAAT... | TCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAAT... | pathogenic | 20,574 |
Assess the variant on chromosome 1, position 201364378, impacting TNNT2 (troponin T2, cardiac type): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGT... | CAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGT... | benign | 20,598 |
Is the genetic variant on chromosome 1, position 201364468, gene TNNT2 (troponin T2, cardiac type), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCT... | GGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCT... | benign | 20,602 |
Is the genetic mutation found on chromosome 1 at position 201369848, within the gene TNNT2 (troponin T2, cardiac type), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCATCTTCTAAATGAAACACGAGAAATCAATCAAGGTCCTTGTTCTGAGCTCAAGTCCCCCCCTCCGCCACCAGCAAGAGCCTTCCCCACAGATAAGCCCTAGCCAAGATGCACTCTGTTGGTTTTTGGGGTTACAGAGCTGTCTCTCACACACACATTCCCCTGGACCCAAGACTGCCTGACACAAGAGAAGCGCTGGGTCAACGTTTGTTGATTGGGCAATCAATGGTTGAATCTTAGTCAATAGGAGAGTCAGGTGCACATGGGAAAGCCTGTTCTGGGGGGTTTCTTACTGCCTCAGGAATGGCTCCAGGGGCTCT... | TCATCTTCTAAATGAAACACGAGAAATCAATCAAGGTCCTTGTTCTGAGCTCAAGTCCCCCCCTCCGCCACCAGCAAGAGCCTTCCCCACAGATAAGCCCTAGCCAAGATGCACTCTGTTGGTTTTTGGGGTTACAGAGCTGTCTCTCACACACACATTCCCCTGGACCCAAGACTGCCTGACACAAGAGAAGCGCTGGGTCAACGTTTGTTGATTGGGCAATCAATGGTTGAATCTTAGTCAATAGGAGAGTCAGGTGCACATGGGAAAGCCTGTTCTGGGGGGTTTCTTACTGCCTCAGGAATGGCTCCAGGGGCTCT... | benign | 20,671 |
Located at chromosome 1 position 201372047, the variant affecting gene TNNT2 (troponin T2, cardiac type)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTCCAGCAACAGGGGCAACTCTCAGTTACTTCCCTGAGCCTCAGGTGCCTCATCAGTAAAATGGGAATCATTCTACTCACTTCTCAGCCGTGGTGAGGACTGAATGACCTAGCGTGCATAGAGCGCCCAGCAGGTGCCTGGCACAAGAGGAGCATGCGATCTGTGGTAACTGCAATGCCTCTAGACGACAGAGCCTTGGCCTCCTTCTTACTAAGACAGAGGCCCCTAAAGAGCAGAGAGTGGGGGACAATTCTCTTCCATCAAATTTCCTGCCCTCAACGAGCCTGCCCATGTTCCTGCTCTGAATGAGGCTCTTGGGT... | TTCCAGCAACAGGGGCAACTCTCAGTTACTTCCCTGAGCCTCAGGTGCCTCATCAGTAAAATGGGAATCATTCTACTCACTTCTCAGCCGTGGTGAGGACTGAATGACCTAGCGTGCATAGAGCGCCCAGCAGGTGCCTGGCACAAGAGGAGCATGCGATCTGTGGTAACTGCAATGCCTCTAGACGACAGAGCCTTGGCCTCCTTCTTACTAAGACAGAGGCCCCTAAAGAGCAGAGAGTGGGGGACAATTCTCTTCCATCAAATTTCCTGCCCTCAACGAGCCTGCCCATGTTCCTGCTCTGAATGAGGCTCTTGGGT... | benign | 20,679 |
Regarding the variant found on chromosome 1 at position 201373207 in gene TNNT2 (troponin T2, cardiac type): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACATGCCACATGCTGAAGTGATACCTGAGCCACTAAAAGGCAGGGTCCACCTGCCTGGGGTGCAGGGGGAGGACTGGAGTGAAGCCTCTGAGTCATTTCCATGTGCCAAGCTCTCAGGAAGAAGGGAAGGTGAGGGCGTTCTTTCAGGGAGATGTGGGACCCACAGCTGAGGAGGGCGATGGGTTAACCGATCAGCATAGGAGCAGCAAGAGGGGCCTCTGCAAGCTCAGAATCATGACAAATCTTCATGCCGAGATAAGACGTCTCAGATCACTGAGCAATTTCATACTCACAATCGCATTTGAGAAATTACTAAATGG... | ACATGCCACATGCTGAAGTGATACCTGAGCCACTAAAAGGCAGGGTCCACCTGCCTGGGGTGCAGGGGGAGGACTGGAGTGAAGCCTCTGAGTCATTTCCATGTGCCAAGCTCTCAGGAAGAAGGGAAGGTGAGGGCGTTCTTTCAGGGAGATGTGGGACCCACAGCTGAGGAGGGCGATGGGTTAACCGATCAGCATAGGAGCAGCAAGAGGGGCCTCTGCAAGCTCAGAATCATGACAAATCTTCATGCCGAGATAAGACGTCTCAGATCACTGAGCAATTTCATACTCACAATCGCATTTGAGAAATTACTAAATGG... | benign | 20,687 |
Considering the genetic mutation at chromosome 1, position 204156336, impacting REN (renin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGC... | TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGC... | benign | 20,843 |
Regarding the variant found on chromosome 1 at position 204156336 in gene REN (renin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGC... | TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGC... | benign | 20,844 |
The chromosome 1, position 204156336 genetic variant in gene REN (renin): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGC... | TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGC... | benign | 20,845 |
Clinically, how would you classify the variant at chromosome 1, position 204156336, gene REN (renin): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGC... | TCTTGGGCAAGGCCTTCCATTCTCTGGGCCTCAGTTTCCCCACCTGTAAAGTGGAAGTATTGCCTGGATCTCTGGTGTTCTATGATTTTAGGTGGTAGTGCCTTAGAATGCCTGTGTAAATGGCTACATGGGGCAGGGCGGGGGCATCTGCAGTGGATAAGGACAGCTGAGGGGAGTTTTGCAGGGACAAGAGACAGGGCTGACTAGCTCAGCAGAGCAGAGTCTGAACTCAGAGCTGGCTTCTGTGAGCTGGGAGAACTTTCTGACCCACAGTCTACTGCCACAGCATTAGCCTTGGTCCCTGAGGGACTAGAGGGAGC... | benign | 20,846 |
Does the variant on chromosome 1 at location 204166246 affecting gene REN have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_juvenile_hyperuricemic_nephropathy_type_2', 'Renal_tubular_dysgenesis_of_genetic_origin'] | CCATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTT... | CCATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTT... | pathogenic | 20,859 |
Does the variant on chromosome 1 at location 207468671 affecting gene CR2 (complement C3d receptor 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Immunodeficiency,_common_variable,_7'] | AGGTACCTTCCGCCTCATTGGAGAAAAAAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAG... | AGGTACCTTCCGCCTCATTGGAGAAAAAAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAG... | pathogenic | 21,058 |
Is the genetic change at chromosome 1, position 207468698, within gene CR2 (complement C3d receptor 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Immunodeficiency,_common_variable,_7'] | AAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGAC... | AAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGAC... | pathogenic | 21,059 |
Clinically, how would you classify the variant at chromosome 1, position 207468698, gene CR2 (complement C3d receptor 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['CR2-related_disorder', 'Immunodeficiency,_common_variable,_7'] | AAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGAC... | AAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCTAAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATACAAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACCAACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCGACACGACTACCAACCTGTGTAAGTGGTGAGTATGAAAAGAAAGCTGGGTTGGGAGGTTGGGGTCTTGCCTTTCTGTGCAGAC... | pathogenic | 21,060 |
Regarding the variant at chromosome 1 and position 207485454, affecting gene CR2 (complement C3d receptor 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GCCTATGGGGTTCTGGCTGTCCTGTACAGTTAGCGTGTACTTAGAGTGTAGAGTTTACCAGAGTGTGTACCACACAACCCTGCTTTCATGAATGACTTCAGAAAAAAAGGGTGTTCTATGGCAAATAAGATTTGGACATACTGCACACTGTTTTTTTTTCTTGTGGAGAATCACAAGGACCATGAGAATATTTAATAAGAGGTTTTTTGCTATCAAGAGGACAGGATTTCCAGGACTTGGTGACATGCTGGATGTGGGGAGAAGGAGGCACATAGAATGGCTCACATGAAGGCGATGAGGTGGACCCCCTGACTCACTAA... | GCCTATGGGGTTCTGGCTGTCCTGTACAGTTAGCGTGTACTTAGAGTGTAGAGTTTACCAGAGTGTGTACCACACAACCCTGCTTTCATGAATGACTTCAGAAAAAAAGGGTGTTCTATGGCAAATAAGATTTGGACATACTGCACACTGTTTTTTTTTCTTGTGGAGAATCACAAGGACCATGAGAATATTTAATAAGAGGTTTTTTGCTATCAAGAGGACAGGATTTCCAGGACTTGGTGACATGCTGGATGTGGGGAGAAGGAGGCACATAGAATGGCTCACATGAAGGCGATGAGGTGGACCCCCTGACTCACTAA... | benign | 21,102 |
Determine whether the variant at chromosome 1, position 207757219, in gene CD46 (CD46 molecule) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AATAGGAAGCTGAAGAAGATAATGAAAGCGATTTGAAATAGAGGAACATAGAATTATGAAATGAATAGGGTGCAACATGGAAAATAACAAAACTAAGAATGAAGAGAAGGAAAAGCAAGGTTAAGTTTGAGGTTCATAAGGGTAAATCAAGACAGGTATGAAACCTAGAGAAAGTAAAAATGAGAAGTCACGATGCTAGGCAGAGAGAATACGTGAATTAAAATAAACATTCAATTTTTGGAGCAACTCACTCTCACAAGGAGAAGGTTTCGTAAGCAGACAGTGCTGTGCATGGGAGACCTGCCCTCTCAAAGGTAGTT... | AATAGGAAGCTGAAGAAGATAATGAAAGCGATTTGAAATAGAGGAACATAGAATTATGAAATGAATAGGGTGCAACATGGAAAATAACAAAACTAAGAATGAAGAGAAGGAAAAGCAAGGTTAAGTTTGAGGTTCATAAGGGTAAATCAAGACAGGTATGAAACCTAGAGAAAGTAAAAATGAGAAGTCACGATGCTAGGCAGAGAGAATACGTGAATTAAAATAAACATTCAATTTTTGGAGCAACTCACTCTCACAAGGAGAAGGTTTCGTAAGCAGACAGTGCTGTGCATGGGAGACCTGCCCTCTCAAAGGTAGTT... | benign | 21,114 |
Variant on chromosome 1, at position 207757602, affecting CD46 (CD46 molecule): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Atypical_hemolytic-uremic_syndrome_with_MCP/CD46_anomaly'] | AGAAGAGGAGCTGCTTTTTTGGACAAAACCCGCAATCTCCTGTTGTGCGTGGTCTCTTCTGCCTATTTTAGGTGTTTTCCTTATTTCCAGTGAAAGAAGCCAAGATCAGTAAGCACTTACACAGTAGCGTCTCAGTTTCCTTACTGGGCATACTACAATGCAAAGAGAGCAGTCCATATCTGGTCACCTGCCAGGATACCAGAAGACTGGGAGATAGGCAGCACAAGAAATGGCCTAATCTTCTTTCTCCATTGTGCTGTAGAATGATTATTTTCAATATGAAATTGATTACAATATATTCTTCACATTGTTTTGTGTTT... | AGAAGAGGAGCTGCTTTTTTGGACAAAACCCGCAATCTCCTGTTGTGCGTGGTCTCTTCTGCCTATTTTAGGTGTTTTCCTTATTTCCAGTGAAAGAAGCCAAGATCAGTAAGCACTTACACAGTAGCGTCTCAGTTTCCTTACTGGGCATACTACAATGCAAAGAGAGCAGTCCATATCTGGTCACCTGCCAGGATACCAGAAGACTGGGAGATAGGCAGCACAAGAAATGGCCTAATCTTCTTTCTCCATTGTGCTGTAGAATGATTATTTTCAATATGAAATTGATTACAATATATTCTTCACATTGTTTTGTGTTT... | pathogenic | 21,116 |
Variant chromosome 1, position 207767158, gene CD46 (CD46 molecule): benign or pathogenic? Disease(s)? | pathogenic; ['Atypical_hemolytic-uremic_syndrome_with_MCP/CD46_anomaly'] | TTTACCCTATGAATGCAAGATTAGTTCAAATGCAAAAATTAATCAGTGTAATTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTT... | TTTACCCTATGAATGCAAGATTAGTTCAAATGCAAAAATTAATCAGTGTAATTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTT... | pathogenic | 21,124 |
The mutation in gene CD46 (CD46 molecule) at chromosome 1, position 207767209—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTTACTTACATTTCTGTCTAATTAATAAAGACCTAATTCTGGAAGGAAAACAGT... | TTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTTACTTACATTTCTGTCTAATTAATAAAGACCTAATTCTGGAAGGAAAACAGT... | benign | 21,125 |
Is the variant located on chromosome 1 at position 209617447, gene LAMB3 (laminin subunit beta 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | ACTCCATGTCTGAGGCAAATGGAACAGCAGCAGGAGGAGGAGTTGATGGTGAGACTCCCCAAGACTCCCAACCCTTCCTTCCCCTCCTGCTAACTGGAGGTAGCATGTGTAGAGGAATCCCCTCCAGAAAAATCTGGCCTCTAAAGCAGTGGTGCCCCTCCAGCTTCATGCCTCTCCAGCCCCATCCCATGCTTAGTAACCTGGCAGGGGCCAAACCCAGCAGGCTCCCACTCCTAATTATCCCTGGGCCCCTGACCCTCTGGGCTCTCACAGTTGTCCAAGGCTAATGAAGGAGGTCACAAACACCCATCATCATATCT... | ACTCCATGTCTGAGGCAAATGGAACAGCAGCAGGAGGAGGAGTTGATGGTGAGACTCCCCAAGACTCCCAACCCTTCCTTCCCCTCCTGCTAACTGGAGGTAGCATGTGTAGAGGAATCCCCTCCAGAAAAATCTGGCCTCTAAAGCAGTGGTGCCCCTCCAGCTTCATGCCTCTCCAGCCCCATCCCATGCTTAGTAACCTGGCAGGGGCCAAACCCAGCAGGCTCCCACTCCTAATTATCCCTGGGCCCCTGACCCTCTGGGCTCTCACAGTTGTCCAAGGCTAATGAAGGAGGTCACAAACACCCATCATCATATCT... | pathogenic | 21,190 |
Evaluate the clinical significance of the mutation at chromosome 1, position 209617474 in gene LAMB3 (laminin subunit beta 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CAGCAGGAGGAGGAGTTGATGGTGAGACTCCCCAAGACTCCCAACCCTTCCTTCCCCTCCTGCTAACTGGAGGTAGCATGTGTAGAGGAATCCCCTCCAGAAAAATCTGGCCTCTAAAGCAGTGGTGCCCCTCCAGCTTCATGCCTCTCCAGCCCCATCCCATGCTTAGTAACCTGGCAGGGGCCAAACCCAGCAGGCTCCCACTCCTAATTATCCCTGGGCCCCTGACCCTCTGGGCTCTCACAGTTGTCCAAGGCTAATGAAGGAGGTCACAAACACCCATCATCATATCTTAGCGATGACTCTAGTTCCCAGGAGCC... | CAGCAGGAGGAGGAGTTGATGGTGAGACTCCCCAAGACTCCCAACCCTTCCTTCCCCTCCTGCTAACTGGAGGTAGCATGTGTAGAGGAATCCCCTCCAGAAAAATCTGGCCTCTAAAGCAGTGGTGCCCCTCCAGCTTCATGCCTCTCCAGCCCCATCCCATGCTTAGTAACCTGGCAGGGGCCAAACCCAGCAGGCTCCCACTCCTAATTATCCCTGGGCCCCTGACCCTCTGGGCTCTCACAGTTGTCCAAGGCTAATGAAGGAGGTCACAAACACCCATCATCATATCTTAGCGATGACTCTAGTTCCCAGGAGCC... | pathogenic | 21,191 |
Clinically, how would you classify the variant at chromosome 1, position 209617933, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CACAGGGACAAGTCATGTTGACCTCATGCCACTTCTTTCCTACCAGCTCCTCAGCAACCCTCTTCTCCTGTCCCTATGTCAGAACATATCTTGTTGGGGCTTCCCAACACCCTTATCCTAATGTCCCTCCTCTTCCTCACAGCTTCTCCCAGGCCTACACATCCTTCCAGGCCCATCTCAAATCTTCTTTTCTTACCTTCACTGAACATGTCTCTCTCAAATTATTTATTCCCTGAACCCCAGAACTCTTATTATTCAACCCCTATCAGAGACCACCTCATCCTGTTAAATATAATTCTATGCATCTTAAGCATAAAGCA... | CACAGGGACAAGTCATGTTGACCTCATGCCACTTCTTTCCTACCAGCTCCTCAGCAACCCTCTTCTCCTGTCCCTATGTCAGAACATATCTTGTTGGGGCTTCCCAACACCCTTATCCTAATGTCCCTCCTCTTCCTCACAGCTTCTCCCAGGCCTACACATCCTTCCAGGCCCATCTCAAATCTTCTTTTCTTACCTTCACTGAACATGTCTCTCTCAAATTATTTATTCCCTGAACCCCAGAACTCTTATTATTCAACCCCTATCAGAGACCACCTCATCCTGTTAAATATAATTCTATGCATCTTAAGCATAAAGCA... | pathogenic | 21,195 |
Variant chromosome 1, position 209618518, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? Disease(s)? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACT... | CCTTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACAGCTCCTCTGCCTCTGTCTTCACACTCTGGATCCGGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACT... | pathogenic | 21,199 |
Gene LAMB3 (laminin subunit beta 3) variant at chromosome position 209618591 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | GGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAAT... | GGGCACCCTGCTCACCCAGCATGGAACTCTGACCCAACCGGTCCTTCAACTCAGCATACTTTTGTTTTATTCTCTCAAATCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAAT... | pathogenic | 21,201 |
For chromosome 1, position 209618670, gene LAMB3 (laminin subunit beta 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTG... | TCCCTGAAAAAGGTAGAATAGTCTCAGTGTCATTGTCATCATGCAAGGTCCTAAAGACCTGTGGCCAAAGCACTTGATATCACCCAAATCAATACACAGTGGGAAGGTGCCTCCTATTAGCCCCCAATAGCATTGGTTTTGCCTATTGAAACCCCTGAGCCACAGACTATGACTTAAACTTCTGTGTTTCCCTCTTCCCATCTCCAGCTCTTGACATGACCCACCTCACTCCCAGGACAATGTCAGTCACATCATAGGATATTAATAGTAGGCTGTCACTTAATAGCATACTTAGCAACTTGGTCACTGTGCCAGGATTG... | benign | 21,203 |
Variant in gene LAMB3 (laminin subunit beta 3), located at chromosome 1 position 209622533: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Junctional_epidermolysis_bullosa'] | TCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAAAGCAATAGGGTGTGAATGACAGAGTCAGACAATTAGGCTTGAAGCCTACCTGCACCACTGCCAAGCTAGATGCCTTTAGGCAAGTTGCTTAACCTCTCTGTGCCTAGATTACTTGTGTGCAAAGTGGAAGTAATAAGAGTACTTAGTTCATGTAGTCAGGAATAAATGATGTAATACATGCAAAGCACTTGGAACAGTGCCTGGACTCAGTTAGAACTTAATAAGCCTTAACTATTCA... | TCGCAAAGGCAAGAGGCAAGAGAAAGTGTGTTTGTGTATGCACACTCGCATGTGTGTATGTATTTGTGTGTCTATGCCGTAAAGCAATAGGGTGTGAATGACAGAGTCAGACAATTAGGCTTGAAGCCTACCTGCACCACTGCCAAGCTAGATGCCTTTAGGCAAGTTGCTTAACCTCTCTGTGCCTAGATTACTTGTGTGCAAAGTGGAAGTAATAAGAGTACTTAGTTCATGTAGTCAGGAATAAATGATGTAATACATGCAAAGCACTTGGAACAGTGCCTGGACTCAGTTAGAACTTAATAAGCCTTAACTATTCA... | pathogenic | 21,205 |
Assess the variant on chromosome 1, position 209623021, impacting LAMB3 (laminin subunit beta 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | ATTTTCCTGGGTTTCCCCCTGGGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCA... | ATTTTCCTGGGTTTCCCCCTGGGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCA... | pathogenic | 21,212 |
Does the genetic variant at chromosome 1, position 209623042, impacting gene LAMB3 (laminin subunit beta 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAAT... | GGGCCAGGCCTCTCTCAGGCCCTGCTTTTTCTCTCTGACCCTGGACTCATCATAAGACTTGACCTGAGATACAAGTATAAGAGAGAGGACAAAAGGGGCCTGGCAGCTCCCTGTCTGTTCACATGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAAT... | pathogenic | 21,213 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 209623165, gene LAMB3 (laminin subunit beta 3): what disease(s) if pathogenic? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | TGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACT... | TGAGCCTCAGCTGCACCCGGCAGGAGAGAATTCCAACTCACCTCCCACCCACTGAGGCCAGAGCCCTGGCTGAGATTAATGCAGGATGAGTGGCCATTCAGCCTCACTGGACTTGACTCAGGGGCAAGAATCCCTTATCCATGAGCCTAAGCCCCACACCTTGACCTCCCCCATCATCCACGTTTGTGGGGCACAATCTCCCTACATCCCCAGGTAATATTTTCCCCAGGTGAGTGCCTCAAGGCCTTATGCAAGTCATGAGACCTCAGAAGAACTTTCCTGCCCCTCTCTGACCTGCCACCTGCACTCAGGAGGGGACT... | pathogenic | 21,215 |
A mutation at chromosome position 209623516 on chromosome 1 in gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAG... | GTAGCAAGAGGAGCCACTGTCATTACACCAAGCCCTGGGCTCGTATTAACTGGGCTCCCAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAG... | pathogenic | 21,217 |
Determine whether the variant at chromosome 1, position 209623574, in gene LAMB3 (laminin subunit beta 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGG... | CAGCCAAGCAAATAACCTGGCAGGAACCAGAAATCTAACAATATCAACTCTTGTTCCTGAGGCACTTTTCCTTTTTCAAAACACATTTTACATCAGTTATTTGATCCTCAGAATAAACTTGTGAAATACTACCGTCCCCATTTATAGAAGCAAAAGATGAGGCAAAGAGAAAAGCAGCCTGCCCAATGTCACACGAGTCTCCCGGGTCCTGTTTAGGGATCTTTCCATTGTACAGCCCTTCCTCACTCCCCAGAGCAGTGAGGAAGGGTGTCTGGTTCATTTATTCATGCCACCAATGTCAGATGTCTTTCTGTGTCTGG... | pathogenic | 21,218 |
Variant at chromosome 1, position 209623860, gene LAMB3 (laminin subunit beta 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | ATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCA... | ATGCCACCAATGTCAGATGTCTTTCTGTGTCTGGCCTTATGTTAGGTGCTGGTGACACAGTAGTCAACAAGACAGACAACCATCCTTGCCCTCCTGGAGTCCCCATTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCA... | pathogenic | 21,227 |
Variant on chromosome 1, at position 209623965, affecting LAMB3 (laminin subunit beta 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | TTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGA... | TTCTAGTGGAGTGACAATCCACTTGTTGACAACTGAATGAGGGTGAGTAGTGCAAGGAAAGTAAGATGATGGGGGACAAACAGATCGGATGGTCAGGAAACACCTCTCTGGGGAGATGACCCAGAGGACAAGAAGCAGCAGCCCTGGAAAGAGGACTTCAGGCAGACAAAGAGCAAATAAACATCCCTGAAGCAGGCAAGAGCCTGACATGTTCAAGGACAGCCAGTGAACAAAGCAGAGAAGAGCCCAAGGTCACTCCCAAGAGATGGACAGAGGCCAGGCTCTGTAGCCACGATGGGAGTTGAGAGCTCATTCCAAGA... | pathogenic | 21,229 |
The mutation impacting LAMB3 (laminin subunit beta 3) on chromosome 1 at position 209625800: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCA... | GATGGAGGAGGAGCAGGAGGGAGAGGGGGTGGCATGCCCACCACGGCAGTGCCCATGCCCGGGGTTATCCGGGTGCCCCTCTCCTCACCTGAAGGATCAGCACTGCTTATTTTTTCAAACTGCTCCCTCTTCCTCTGATACATAGTAAGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCA... | pathogenic | 21,235 |
Is chromosome 1, position 209625947, gene LAMB3 (laminin subunit beta 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | AGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAAC... | AGGAGACCATTGAAGCTTCTGTCAAGACTCTCCAGGTCTCTCGGAAGGGACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAAC... | pathogenic | 21,242 |
Gene mutation in LAMB3 (laminin subunit beta 3) at chromosome 1, position 209625995—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa,_non-Herlitz_type'] | GACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCC... | GACAACGTCTCCTCCTCCAGGGGCAGATCCAGCTGCAGGCCCTGGAGAGTTCGCCTGAGAAGGGAGAGGAGCTTACACTAAAATATAGGAGGGAGTTTTGCCTCCCCAAAGCAGCTATCCCCTCAGAGCAACTGCTACTGAGTCAGAACAAACAGAGACCTTGGGCAAAGGCAACAGAACAGAGAATCCACAGGCTAAGGGGGTTCCGCTGGACAGAGGCTTGGCGACCAGCACAATCTTTCTCTGTCCAGGTGCAGATGGAGCCACAAAACTCTCCTCCCTTGACTTCTATGACCCAACATTCCCAATTCTCCTCCCCC... | pathogenic | 21,243 |
A mutation at chromosome position 209626875 on chromosome 1 in gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | TGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAG... | TGCTTGTTTCATCATAGATGCTCTAAAATTATGTAAAGAGAAAGAAAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGGGAAGGAAGGAAGGAAGGAAAAAAGAAGGAAAAGAAGGAAGGAAGGAAGGTAGGTTGGTTTTCAATATTCGCTTGAGTTCCTCTCCCGGAGCCCCCAGCCAGAAGCTCTAGCACATCGTGAGTCACGGAGCCTCCATTTTCATTCTTCTCAGGCTGCCTTTTCCTTCCCCACCACTCACACACCTGGATGGCTCTGTGCACAG... | pathogenic | 21,246 |
A genetic alteration at chromosome 1, position 209627501, in gene LAMB3 (laminin subunit beta 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACG... | CTGTCTGTGCCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACG... | pathogenic | 21,253 |
Gene LAMB3 (laminin subunit beta 3) variant at chromosome position 209627510 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAG... | CCTGTTTTCTCATCTGCAAAACCACACCAGCCTCACAGGACTGTTGTAATGGTTGAAAGAGAGAGCACTGTGAAAATGCCTTTAAACTGTAATGCACTGTACAAATGTAAGGAAGGACCAGCATGCCCGGTACTGGAACCCCTGGAGCATAATTCTTGCAAATGCTTGGCAGGGAAAGGGAATTACCTGAGGGAGAGGATGGCACTGGCCACCTGAGCCACCTCCTGCTCTGTGACTGCGGGGCTGCTGAGAACTGCTCGGATCTGCTCAATCTTACTCTTTGCATCTAGGATCCGGGAGGCCAGGCCACGGTCCTCCAG... | pathogenic | 21,254 |
Gene LAMB3 (laminin subunit beta 3) variant at chromosome position 209629838 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCA... | GCTGACTCAGTCCCACCTTCCAACTCGGACGTGTGCTGCCACCTGCTGGAGGCCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCA... | pathogenic | 21,277 |
Considering the variant on chromosome 1, location 209629890, involving gene LAMB3 (laminin subunit beta 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGG... | CCAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGG... | pathogenic | 21,280 |
Clinical significance of chromosome 1, position 209629891, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGC... | CAGTGGCACAGCATCTGGCGCTGGGTAAGAGGGCAAGAAGTCCGGACTCCTGGCAAAGGCCCGGGCATACCCCCTCTGTCTACCCTGCAGTGGGATTTCCTCTGAAGAGAGCACAGTGAGCAGGGCAAGCCGTGGGTCTGGTGGCCCCATGCAGCCCACCCCACGTCATGCTGGGCCAAGCCCCCTACTCACGGTGGCAGCCCTGCGGGTTGGCGTAGGTGAGTCCAGTGAAGCCCGGCTTGCATAGGTCACAGCGCTCTCCCTGCACATGCTCCTTGCACACACACTGCCCGGTCACTGGGTCACAGGGAGCCCCTGGC... | pathogenic | 21,281 |
Clinically, how would you classify the variant at chromosome 1, position 209633075, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAG... | CAGTCAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAG... | pathogenic | 21,299 |
Chromosome 1, position 209634510, gene LAMB3 (laminin subunit beta 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | AAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAG... | AAGTATTAAATACCCAAGTCTTAGATTTAGTGCCCTTCCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAG... | pathogenic | 21,304 |
Regarding the variant at chromosome 1 and position 209634547, affecting gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGG... | CCTGCTTTACAGGAGCCCCAAGAATGTCTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGG... | pathogenic | 21,305 |
Considering the variant on chromosome 1, location 209634574, involving gene LAMB3 (laminin subunit beta 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCAC... | CTGTAGTCTGCCCTGGTCCTGCCCCCTTCCTCTCCCCTTCCCACCCTAGGCTGTTACCTGCACAGCGGTGGAGGGGCCTGCAGAGGCCCCAGGCTTGGGTGCGCAGCGATCAGCATGGCCGTGACAGAAGCAGCTCCCCTGCAGACGGAGCTGGGACACAGCATAGTAGGCGCTGGGAGGGTGGTAGCCCCTTTGGGGCACAGGGGCCAGCCTGGTGAAATTGACTCTCAAGTTTGTGATCTCCCCCACCTCTGAGAGGGCCAAACAGCAAGGAGGGAAGAGTTGGAGAATGGAAAATAAAGAAAGGAAGTTAGAGGCAC... | pathogenic | 21,306 |
Benign or pathogenic: chromosome 1, position 209637971, gene LAMB3 (laminin subunit beta 3) variant? Disease(s) if pathogenic? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | AGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAA... | AGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGTATTGAGTTGGAGAA... | pathogenic | 21,314 |
Evaluate this variant at chromosome 1, position 209638605, gene LAMB3 (laminin subunit beta 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGC... | CTCATCTCGCAGCAGTCTTCAGCCCTCCACATCCCTGCCTCTTGCCACCAAGCACATTTCACCCTCCAGGCCCTGTGTGCATTCCCTTGCCCCCAACCCCAGTCATATACCTCATCTTCTTGCCGCCTGCCTCCCGGCCTTTGTGCTTATGGTTCTGTTTTCTTGGAATAAACATTGCCCTTCCCCTGGCCATTACTGGTCTATGAAAGTTCATCTTCCCCTGGGTGCACTCCCTGACAAGCCCTCCCAAGACAGACCATGCAAGAGCCCCATTCTGGGCTCCCAGCACCTCTTCTTACCAATATCAGAGCACACATTGC... | pathogenic | 21,319 |
Chromosome 1, position 209650070, gene LAMB3 (laminin subunit beta 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Junctional_epidermolysis_bullosa,_non-Herlitz_type'] | AGCACCCAGAGGGGGTTCAGGGTACATCTGTCCAGAGGACAAAAAGGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAG... | AGCACCCAGAGGGGGTTCAGGGTACATCTGTCCAGAGGACAAAAAGGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAG... | pathogenic | 21,323 |
Regarding the variant found on chromosome 1 at position 209650076 in gene LAMB3 (laminin subunit beta 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CAGAGGGGGTTCAGGGTACATCTGTCCAGAGGACAAAAAGGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAG... | CAGAGGGGGTTCAGGGTACATCTGTCCAGAGGACAAAAAGGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAG... | pathogenic | 21,324 |
Considering the variant on chromosome 1, location 209650115, involving gene LAMB3 (laminin subunit beta 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Amelogenesis_imperfecta_type_1A', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz', 'LAMB3-related_disorder'] | GGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAGACCTGAAACTACACACTACATGAAAGATACTCCCTGCTA... | GGGAGTCTCTATGCCTTTAGTATCTATCTTCATTGCTGGAACCCATGGCCTCTGCAAAGGGTAGGCATGTAGTAGTGAGGGAAAGAGAAATGAAACAAGACAGAGAGGTGGAAGATGGGGGAGAGATGCTGATTGTCAGCAGTCGGCTCATTGCCAAAGAATGTTAGGGAAAAGGAGGGACCCTAAAGACCATCTCATCTAATACTCACTTACAGAAAAGGACAGCGAGGCTTACACAGGGGTAATCTCTTGCCCAAGGTCACACCTCAAGTCAGTGGCAGACCTGAAACTACACACTACATGAAAGATACTCCCTGCTA... | pathogenic | 21,326 |
The mutation in gene IRF6 (interferon regulatory factor 6) at chromosome 1, position 209801280—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['IRF6-related_condition', 'Orofacial_cleft_6,_susceptibility_to', 'Popliteal_pterygium_syndrome', 'Van_der_Woude_syndrome'] | GTAGAATTTGAGGCCAGGTCTTCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTG... | GTAGAATTTGAGGCCAGGTCTTCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTG... | pathogenic | 21,372 |
Determine if the mutation at chromosome 1, position 209802060 in gene IRF6 (interferon regulatory factor 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTT... | ATTTCAGCAAGGACCCAAAGCATGAATCTTGAGAGACCCACAGTAGAGACTGTATTTCACTTGTGACTTCTAGCTTATACTCAAAGAAGAAAAGGGCAAACAAAACTAACTTCTCAGTGTCTTGGGATGCAGGAACTAAAGCTACTCATGAGATGGAAGTGACCAAGAAAGAAGCTGGTGTGGAGCAGAGACGTAGCCTCCAGGGTTTCAAACCATGTGAAAACCTTTCCCACAACAAGCCTGTCCACCTACTTCTGTCTTAAGTCAAGCTTTGGTTTCACTTAAATTTTGTAAAATGCTATGTGATTAAATCTTGTTTT... | benign | 21,378 |
Is the variant located on chromosome 1 at position 210684141, gene KCNH1 (potassium voltage-gated channel subfamily H member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTCATTCTCTTTCCAGCTCCTGAAGAGAGTACAATCATGATCCTGCAGTCTTTTTCCATTTTCTCTTGAAATCCTACTGACTTTAATAGGAAATAGAGAGACTGGCTTTAAAATAAGGCCCAGCATGGCTCCCAAGTGCCTATAATGACCCCGTGCGGTGAACAAAATACAAAGGTCTGCAGGGCAATCCCAATGAGAATCAAAGTATAAACATAGCACTTGCTACAGTTCTGAGGTTGTGTGTGTCTGTGTGTCTGCTTTGTTAATAAAGCAACTCTGGGCTCATGACCCTTCCTGCCGATGCTCCATACCCTGAGGAA... | TTCATTCTCTTTCCAGCTCCTGAAGAGAGTACAATCATGATCCTGCAGTCTTTTTCCATTTTCTCTTGAAATCCTACTGACTTTAATAGGAAATAGAGAGACTGGCTTTAAAATAAGGCCCAGCATGGCTCCCAAGTGCCTATAATGACCCCGTGCGGTGAACAAAATACAAAGGTCTGCAGGGCAATCCCAATGAGAATCAAAGTATAAACATAGCACTTGCTACAGTTCTGAGGTTGTGTGTGTCTGTGTGTCTGCTTTGTTAATAAAGCAACTCTGGGCTCATGACCCTTCCTGCCGATGCTCCATACCCTGAGGAA... | benign | 21,441 |
Clinically, how would you classify the variant at chromosome 1, position 211107382, gene KCNH1 (potassium voltage-gated channel subfamily H member 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TAACAAGGTAAAAGAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGAT... | TAACAAGGTAAAAGAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGAT... | benign | 21,479 |
A genetic variant at chromosome 1, position 211107382, affecting gene KCNH1 (potassium voltage-gated channel subfamily H member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TAACAAGGTAAAAGAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGAT... | TAACAAGGTAAAAGAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGAT... | benign | 21,480 |
Variant at chromosome 1, position 211107395, gene KCNH1 (potassium voltage-gated channel subfamily H member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGATTTCCTTAAAGTGT... | GAAATCCCTGTAAAGTTGAATCTTCAAATAAATGAAGTACTATAATTATACCTAGTTTTCATTCATCTTATGTACTTTTTCAGGCTGTAGATTACCAGTAGTTCTAAATTTCCTTTACCTGGATCTCAGATTGCAAATGCTTACAACGCACAAAATAAATAAAAGAGACTCCTGAGCTATCAGGAACATAGCTAGCACAAAGGTATGTTCATTTATAGAGAAGGGATACCTTCGGGTAATTCAATAAGTTGCTAAAAACTGTGCATAAAAGAAAAGTTGGTTAAATTAGCAAGTTATTTTATCTGATTTCCTTAAAGTGT... | benign | 21,481 |
Evaluate the clinical significance of the mutation at chromosome 1, position 211133863 in gene KCNH1 (potassium voltage-gated channel subfamily H member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCCCAAGATGCTTCATTTTTTTTGATGCTATTCATTTGATTGGTTAATTGAAATCAACCTGCTGAAACTGGTGTTGAAATGACAATGCCCATCCTAAAAATATTCCCAGTGACTTATTCTATTCACATTCTATGATTACAGAGGGAAAGTGGCTCTAATAAGATCAACTAAAATAGACAGTATTCTGCCTTCACAGCTCCAAGATTCTTAAGGTTCCCTTAAAACCCAAGGCATCTTGTGACTTTTACATGTAAGTTTCTCTTCCTGCTCCCTCCACTCAAAAACATACACAGTATACATTAGGTACTGGGTTTCCCCTC... | TCCCAAGATGCTTCATTTTTTTTGATGCTATTCATTTGATTGGTTAATTGAAATCAACCTGCTGAAACTGGTGTTGAAATGACAATGCCCATCCTAAAAATATTCCCAGTGACTTATTCTATTCACATTCTATGATTACAGAGGGAAAGTGGCTCTAATAAGATCAACTAAAATAGACAGTATTCTGCCTTCACAGCTCCAAGATTCTTAAGGTTCCCTTAAAACCCAAGGCATCTTGTGACTTTTACATGTAAGTTTCTCTTCCTGCTCCCTCCACTCAAAAACATACACAGTATACATTAGGTACTGGGTTTCCCCTC... | benign | 21,483 |
Chromosome 1, position 211481401, gene RD3 (RD3 regulator of GUCY2D): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leber_congenital_amaurosis_12'] | GACATTCACCCACAACAGCGGGTCTGGCACCCCGGGCGTCTAACCCCGAGGGGCTGCCCGTGCATCCTCATGGCCAATTAGTCCACTCTACTCTGCTCCTGAAGCGAATCAGGAACCACCCCACGCTGCTACTGCTTCAACCAATCCTGCGTTCAAATCCCAGCTCTGCCACTTCTGGCCTCAGTTGGCCTCAGCCTCCTCGTCTGTAATCTGAGATGACAGCTGCCTTTGTGTGAGCTATAATGAACTAAGATATGTAAAGATCCTGACACTTACCTAAGGTTGTTGATGACGAAGCATTAAGGGGAGCCCTTTGCCGT... | GACATTCACCCACAACAGCGGGTCTGGCACCCCGGGCGTCTAACCCCGAGGGGCTGCCCGTGCATCCTCATGGCCAATTAGTCCACTCTACTCTGCTCCTGAAGCGAATCAGGAACCACCCCACGCTGCTACTGCTTCAACCAATCCTGCGTTCAAATCCCAGCTCTGCCACTTCTGGCCTCAGTTGGCCTCAGCCTCCTCGTCTGTAATCTGAGATGACAGCTGCCTTTGTGTGAGCTATAATGAACTAAGATATGTAAAGATCCTGACACTTACCTAAGGTTGTTGATGACGAAGCATTAAGGGGAGCCCTTTGCCGT... | pathogenic | 21,503 |
A genetic alteration at chromosome 1, position 212858590, in gene FLVCR1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | AACATAGCTTCCCAAGGAGCAGAAGGGCTGAATTTTCTCTAGTTCCAGGAAGACCGCAAGGCTACTGTGCTCTGGATGTCTCGTTTTTATTTTTTTATTTTTTTATTCTCCAGATCTCAAGACGGTGTCTGGCACATACCATTCAATACAAGTTTGGTACCTGGAACCCACTGAATATGCATGTCCAGTAACTATTAACTACATGTGTTGGTGCAAGGGAGAAGGTCGAGCAACCGGATCTGCTCCATCATAGCCCGTCTCAGTCGCTTCATTCAAGTCAGCGGGGTGAGGTTGAGGGGATTCCAACTTCACAAGGGCAG... | AACATAGCTTCCCAAGGAGCAGAAGGGCTGAATTTTCTCTAGTTCCAGGAAGACCGCAAGGCTACTGTGCTCTGGATGTCTCGTTTTTATTTTTTTATTTTTTTATTCTCCAGATCTCAAGACGGTGTCTGGCACATACCATTCAATACAAGTTTGGTACCTGGAACCCACTGAATATGCATGTCCAGTAACTATTAACTACATGTGTTGGTGCAAGGGAGAAGGTCGAGCAACCGGATCTGCTCCATCATAGCCCGTCTCAGTCGCTTCATTCAAGTCAGCGGGGTGAGGTTGAGGGGATTCCAACTTCACAAGGGCAG... | pathogenic | 21,530 |
Regarding the variant found on chromosome 1 at position 212863739 in gene FLVCR1 (FLVCR choline and heme transporter 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Posterior_column_ataxia-retinitis_pigmentosa_syndrome'] | ATGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCACCCGCCTCCACACCCGGCTAATTTTTTGTATTTTTTAGTAGAGACTGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTCTATCTAGCTTTTTGTAAGGGAGCAAATGAAATATTTGAT... | ATGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCACCCGCCTCCACACCCGGCTAATTTTTTGTATTTTTTAGTAGAGACTGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTCTATCTAGCTTTTTGTAAGGGAGCAAATGAAATATTTGAT... | pathogenic | 21,538 |
Benign or pathogenic: chromosome 1, position 212888496, gene FLVCR1 (FLVCR choline and heme transporter 1) variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa'] | CTTTTTGGCTAAAGTACGCCCAGACTACAGTACCACTTAACTGTAATATAATGCATAATGTGAAAATGCTGGTTTGACACAATGTCTTATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCGGGTAGATTGCTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACGCCATCTCTACTGAAAATACAAAAAATAGTCAAGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGAAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCTGAGATAGCGTGCCACTGGT... | CTTTTTGGCTAAAGTACGCCCAGACTACAGTACCACTTAACTGTAATATAATGCATAATGTGAAAATGCTGGTTTGACACAATGTCTTATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCGGGTAGATTGCTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACGCCATCTCTACTGAAAATACAAAAAATAGTCAAGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGAAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCTGAGATAGCGTGCCACTGGT... | pathogenic | 21,548 |
Assess the variant on chromosome 1, position 212895200, impacting FLVCR1 (FLVCR choline and heme transporter 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TTCAGGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCGCCTGGCTGGGTTGCTTCTTATGGATAAGCAAAGAAAGTGTTTTCTTGAGTTGGAATCTACTAGTAAAGATGCTGTAAATGTTGAAATGACAACAAAGGATTTAGAATATTATATAAACTTAGCT... | TTCAGGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCGCCTGGCTGGGTTGCTTCTTATGGATAAGCAAAGAAAGTGTTTTCTTGAGTTGGAATCTACTAGTAAAGATGCTGTAAATGTTGAAATGACAACAAAGGATTTAGAATATTATATAAACTTAGCT... | benign | 21,552 |
Is the chromosome 1, position 214622237 variant in CENPF (centromere protein F) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Stromme_syndrome'] | TCGATGTGACTTTTTTTGGGATAGTGATATGGTGGAATGTGAGATTTTTGAAAGAGTTCTTTAGTGTGATGTTTAACTTTGATTCTCTTGGGCAAAGCTATAGGGGGAGGTAACCAAGGACAGGCAAAGAAAAGCCAGTTTTGGAATTCAGAATGAAAGTGAATACTCACATATGTTTAATGGGTTCTAAGAAGGATGCAGAATAAATACTAAGACTTAGCCTATTTTGAATAGATTGGGCATGAGATGGTAGTAGCTTATTCCTTCAATGCTAAGAAGTCGAGCATTAGAACATTCCATCACTGGGTATTAGACTTATG... | TCGATGTGACTTTTTTTGGGATAGTGATATGGTGGAATGTGAGATTTTTGAAAGAGTTCTTTAGTGTGATGTTTAACTTTGATTCTCTTGGGCAAAGCTATAGGGGGAGGTAACCAAGGACAGGCAAAGAAAAGCCAGTTTTGGAATTCAGAATGAAAGTGAATACTCACATATGTTTAATGGGTTCTAAGAAGGATGCAGAATAAATACTAAGACTTAGCCTATTTTGAATAGATTGGGCATGAGATGGTAGTAGCTTATTCCTTCAATGCTAAGAAGTCGAGCATTAGAACATTCCATCACTGGGTATTAGACTTATG... | pathogenic | 21,652 |
Determine if the mutation at chromosome 1, position 214651758 in gene CENPF (centromere protein F) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Stromme_syndrome'] | CTGAATGATATTTGTGTATTGCGTCTGCTGAAATCTCTTTTGGTGTTGAGTAGCTTGGGAGTGTCCCAAGTGCGTCATTATTGTATTTTATGTATGGGCACTACTGAGAGGAGTAGTTTGGCCTCAGCCCCATACATATGAGTGTGTTAGTTTGCATTGGCTTTATTCATTCATTTATTCATTCTCTAAATAATAAGTGCTAGTAAGGTCAGGGGATAGACTATTGAACCATACCTATCCTGTGTTTCCTGCACTCATGCAGCTTACAGTCTAGACACATAATAAATCATGAAATAGGCAACATGTAACAAATAAGCGGA... | CTGAATGATATTTGTGTATTGCGTCTGCTGAAATCTCTTTTGGTGTTGAGTAGCTTGGGAGTGTCCCAAGTGCGTCATTATTGTATTTTATGTATGGGCACTACTGAGAGGAGTAGTTTGGCCTCAGCCCCATACATATGAGTGTGTTAGTTTGCATTGGCTTTATTCATTCATTTATTCATTCTCTAAATAATAAGTGCTAGTAAGGTCAGGGGATAGACTATTGAACCATACCTATCCTGTGTTTCCTGCACTCATGCAGCTTACAGTCTAGACACATAATAAATCATGAAATAGGCAACATGTAACAAATAAGCGGA... | pathogenic | 21,737 |
Does the chromosome 1 mutation at position 214658833 within gene CENPF (centromere protein F) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTATAAGAACATATACAGATATATCTCCCCAACCTCTTAAAAAAAAAAATCAAAGAAAGAACACGTCTAAGATTATCTGCTTCACGATGCCCATTGTTAACTAGAGAAGCATCAAGTTGCACATGATGTGTTGCTTTACTTTGGACAGGTACTGTTATGGATACCAAGGTCGATGAATTAACAACTGAGATCAAAGAACTGAAAGAAACTCTTGAAGAAAAAACCAAGGAGGCAGATGAATACTTGGATAAGTACTGTTCCTTGCTTATAAGCCATGAAAAGTTAGAGAAAGCTAAAGAGATGTTAGAGACACAAGTGGC... | CTATAAGAACATATACAGATATATCTCCCCAACCTCTTAAAAAAAAAAATCAAAGAAAGAACACGTCTAAGATTATCTGCTTCACGATGCCCATTGTTAACTAGAGAAGCATCAAGTTGCACATGATGTGTTGCTTTACTTTGGACAGGTACTGTTATGGATACCAAGGTCGATGAATTAACAACTGAGATCAAAGAACTGAAAGAAACTCTTGAAGAAAAAACCAAGGAGGCAGATGAATACTTGGATAAGTACTGTTCCTTGCTTATAAGCCATGAAAAGTTAGAGAAAGCTAAAGAGATGTTAGAGACACAAGTGGC... | benign | 21,752 |
A genetic variant at chromosome 1, position 215628929, affecting gene USH2A (usherin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinitis_pigmentosa_39'] | TATTATGTTGAATGTATAGCAATTGCTGTTTTGCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACT... | TATTATGTTGAATGTATAGCAATTGCTGTTTTGCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACT... | pathogenic | 21,772 |
A genetic variant on chromosome 1, position 215628952, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | TGCTGTTTTGCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAA... | TGCTGTTTTGCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAA... | pathogenic | 21,773 |
A genetic variant on chromosome 1, position 215628961, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGA... | GCATGTCAAAAATGATCAGTTAGCAATTCATTGTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGA... | pathogenic | 21,775 |
For chromosome 1, position 215628993, gene USH2A (usherin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa_39'] | GTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCA... | GTTTCAACCAAATATAATTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCA... | pathogenic | 21,777 |
Does the variant on chromosome 1 at location 215629010 affecting gene USH2A (usherin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTG... | TTATCCCTGCCTTTTAAAAACTTTAGATCTGAAATGGACTCATGTAGTTGAGGTTACAACAACATCAAACAGCCTGTGATTTTAAAATGCATATTATATATATGTATATATTATACAATCATTCTGAACAGGCCAGAAGGATGGTACATTTTTTTATATAGTGTTAGGGAACCTGGGTCCAGCGAACTCCCTTTATTATTTGCTATTAGTCAAGAAAGGCTTCATGGAAGTCATCAACTTTTCAGTGAAGGAAAAGTGAGAACTTGGAGGAGAAAGATGAGAGCAAATCCAAAAACAGAAGCAGATGATTGAAAGAAGTG... | pathogenic | 21,778 |
Clinically, how would you classify the variant at chromosome 1, position 215634461, gene USH2A (usherin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinitis_pigmentosa_39'] | CCACAAGAATGATGGGAGTGTCTTCTGGTCACTAAGTTAACCAAGTAAGGAAGACAGTGTTCTTCCTCATGGAGGATTCTGACACAGAGGTGCCTGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCT... | CCACAAGAATGATGGGAGTGTCTTCTGGTCACTAAGTTAACCAAGTAAGGAAGACAGTGTTCTTCCTCATGGAGGATTCTGACACAGAGGTGCCTGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCT... | pathogenic | 21,784 |
Determine if the mutation at chromosome 1, position 215634492 in gene USH2A (usherin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CTAAGTTAACCAAGTAAGGAAGACAGTGTTCTTCCTCATGGAGGATTCTGACACAGAGGTGCCTGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGC... | CTAAGTTAACCAAGTAAGGAAGACAGTGTTCTTCCTCATGGAGGATTCTGACACAGAGGTGCCTGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGC... | pathogenic | 21,785 |
A genetic variant on chromosome 1, position 215634555, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATA... | TGCCTATAGGGACTGGGTCAAAGGACAGGAGAAAGTATCACTGAAATGACTTCTGGACATTGCTGGTATGTGGGTACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATA... | pathogenic | 21,786 |
Chromosome 1, position 215634629, gene USH2A (usherin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | TACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCA... | TACACTTTCCTGTAACCGCACCTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCA... | pathogenic | 21,789 |
Does the variant impacting USH2A (usherin) on chromosome 1, position 215634650, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAAC... | CTCACATTATACAGTAGATGTGCCTAGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAAC... | pathogenic | 21,790 |
Variant chromosome 1, position 215634675, gene USH2A (usherin): benign or pathogenic? Disease(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | AGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATA... | AGCAGTGCTTGGGAACCTCCCTTTCACCACTCCATGCACTCCATAGACCCTAGTTTCAGTTTAGCTCATCTCCCAGGCTAAACAGATCTCTCCTGCCTTCTTTTCTCTCTTCCACTGCCTTCCTCCAGCAGCAGTGCACCTTCTAGGAACATGGGCTCCTTAAAGAAAGTTATTCTTTAACAAGGAAAAATTTTGAAATATCTGCTCTTCAGTGAGAATCTCCTAATGACTATTCACTGAACAGGAGCAAACAGCCCATGGTTCGAAGTGATCACTCGACATTCATTCATTCAACAAACATTCGTGGAGTGCCTATGATA... | pathogenic | 21,796 |
Variant at chromosome 1, position 215639163, gene USH2A (usherin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AACCGAAACCACAGCCAGTGTCAGAGTAAATCCGTCTCTGTTGATGGCCTGCCTCCAGGAACAACACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGG... | AACCGAAACCACAGCCAGTGTCAGAGTAAATCCGTCTCTGTTGATGGCCTGCCTCCAGGAACAACACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGG... | pathogenic | 21,800 |
Variant chromosome 1, position 215639228, gene USH2A (usherin): benign or pathogenic? Disease(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCT... | ACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCT... | pathogenic | 21,802 |
Evaluate this variant at chromosome 1, position 215639236, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinitis_pigmentosa_39'] | CATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCTGGATAAAT... | CATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAAGCTAGCAGAGCATTCCTGGATAAAT... | pathogenic | 21,803 |
Evaluate this variant at chromosome 1, position 215640610, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAG... | TGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAG... | pathogenic | 21,811 |
Evaluate this variant at chromosome 1, position 215640624, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | ACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCT... | ACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCT... | pathogenic | 21,814 |
A genetic variant on chromosome 1, position 215640625, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa_39'] | CCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT... | CCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT... | pathogenic | 21,816 |
Classify the chromosome 1 variant at position 215640640 affecting gene USH2A (usherin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Usher_syndrome', 'Usher_syndrome_type_2A'] | CTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGG... | CTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTGTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGG... | pathogenic | 21,817 |
Regarding the variant found on chromosome 1 at position 215640690 in gene USH2A (usherin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAG... | GTATTGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAG... | pathogenic | 21,819 |
Gene mutation in USH2A (usherin) at chromosome 1, position 215640694—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | TGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCA... | TGTAACTCCTTGCCTGATATAAGTTCCATGAGGACTTTTTAAAAAATTTCTGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCCAGACCAGCCTGGCTAACAAGGTGAAACCATGTCTCTACTAAAAATACAAAAAGTTAGCCAGGTGTGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCA... | pathogenic | 21,820 |
Chromosome 1, position 215647525, gene USH2A (usherin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | ACACAGTTTATAGTTCTGCCTCAGTTTTTTCATCTGTAAATTTGGATAATAATAGGTCTGTTGTAAGAATTATTTGTAAAATGCTAAAATACTGCCAGGAACAAACAAGTCCTCTGTAAATGTGATCTGTTACTAACATCCTACCATGTTGTTGCTCAGACACATTAAGCTCCTTGTGTGAGACATTGGTCTTTATGAATGCGTAATTCTTGCTTTTAAAATTGGCATCATATTCAATGCCAGATAGAGTATTTTAGGTAAGATTTATAATCTGACATAATCTTTCTTGAAAGCAAACATGAAACTAGTATCCAAAGCCT... | ACACAGTTTATAGTTCTGCCTCAGTTTTTTCATCTGTAAATTTGGATAATAATAGGTCTGTTGTAAGAATTATTTGTAAAATGCTAAAATACTGCCAGGAACAAACAAGTCCTCTGTAAATGTGATCTGTTACTAACATCCTACCATGTTGTTGCTCAGACACATTAAGCTCCTTGTGTGAGACATTGGTCTTTATGAATGCGTAATTCTTGCTTTTAAAATTGGCATCATATTCAATGCCAGATAGAGTATTTTAGGTAAGATTTATAATCTGACATAATCTTTCTTGAAAGCAAACATGAAACTAGTATCCAAAGCCT... | pathogenic | 21,828 |
Determine if the mutation at chromosome 1, position 215648655 in gene USH2A (usherin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39'] | ACCTCTGCCTCCTGGGTTAAAGTGATTCTCCTGCTTAAGCCTCCTGAGTAGCTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACA... | ACCTCTGCCTCCTGGGTTAAAGTGATTCTCCTGCTTAAGCCTCCTGAGTAGCTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACA... | pathogenic | 21,849 |
Evaluate if the mutation on chromosome 1 at position 215648706 in USH2A (usherin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACATGCCTATGGGGCAGAGTAGGTTATAACATGTAGGTCTGTGCAAGTACATTC... | CTGGGATTACAGGTATGTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCCTCTTATCTTTTATATCAGATTTTTTCTGTGCCTTTTCTATGTTTAGATACACAAATAACCATTGTGTTACAATTGCCTGCAGTATTCAGCACAGTCACATGCCTATGGGGCAGAGTAGGTTATAACATGTAGGTCTGTGCAAGTACATTC... | pathogenic | 21,852 |
Is the genetic mutation found on chromosome 1 at position 215650630, within the gene USH2A (usherin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | CTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCA... | CTTGAGGCCAGCGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCA... | pathogenic | 21,857 |
Considering the variant on chromosome 1, location 215650645, involving gene USH2A (usherin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCA... | CCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCA... | pathogenic | 21,858 |
A mutation at chromosome position 215650702 on chromosome 1 in gene USH2A (usherin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinal_dystrophy', 'Usher_syndrome_type_2A'] | GTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGT... | GTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGT... | pathogenic | 21,866 |
Gene mutation in USH2A (usherin) at chromosome 1, position 215650782—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGG... | GAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAAAATTACCAACTCAGTTAGAGAGGTATGACAAATAGGTGAAAAATCTGATAATGTAACCGTTAAATAGACGTTTGAGGTAGCAGGATGGAAATCACAAGGCATAATATTATCGATTATCTATTACCTTAGAAAGG... | pathogenic | 21,874 |
Is the genetic mutation found on chromosome 1 at position 215671073, within the gene USH2A (usherin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AGAGCGAGACTCTGTCTCGAACAAAGAAACAAACAAACAAACAAAAACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTC... | AGAGCGAGACTCTGTCTCGAACAAAGAAACAAACAAACAAACAAAAACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTC... | pathogenic | 21,882 |
Variant in USH2A (usherin), chromosome 1, position 215671088—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome'] | CTCGAACAAAGAAACAAACAAACAAACAAAAACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTT... | CTCGAACAAAGAAACAAACAAACAAACAAAAACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTT... | pathogenic | 21,883 |
Assess the variant on chromosome 1, position 215671119, impacting USH2A (usherin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTC... | ACTGGAATGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTC... | pathogenic | 21,884 |
A genetic variant on chromosome 1, position 215671206, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAG... | ATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATGACATAAACCACAATTCTTATCCTAAACCCTTGGGGGCCTGATGTGTTTTAAAATAATTTTGTTTTTAGATTTTGAAATAG... | pathogenic | 21,887 |
Evaluate if the mutation on chromosome 1 at position 215674168 in USH2A (usherin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39'] | CTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCT... | CTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCT... | pathogenic | 21,898 |
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