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 |
|---|---|---|---|---|---|
Does the variant on chromosome 1 at location 156136351 affecting gene LMNA (lamin A/C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | ATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCT... | ATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCT... | pathogenic | 15,894 |
Variant in gene LMNA (lamin A/C), located at chromosome 1 position 156136375: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2'] | CAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGA... | CAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGA... | pathogenic | 15,900 |
Regarding the variant found on chromosome 1 at position 156136975 in gene LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | CCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAG... | CCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAG... | pathogenic | 15,918 |
Gene LMNA (lamin A/C) variant at chromosome position 156137130 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | TCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGG... | TCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGG... | pathogenic | 15,930 |
Classify the chromosome 1 variant at position 156137144 affecting gene LMNA (lamin A/C) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy'] | GACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGA... | GACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGA... | pathogenic | 15,931 |
Determine if the mutation at chromosome 1, position 156137145 in gene LMNA (lamin A/C) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype'] | ACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAG... | ACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAG... | pathogenic | 15,932 |
Variant in gene LMNA (lamin A/C), located at chromosome 1 position 156137209: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | TCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATG... | TCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATG... | pathogenic | 15,944 |
Variant at chromosome position 156137226, chromosome 1, gene LMNA (lamin A/C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | CCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCT... | CCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCT... | pathogenic | 15,949 |
Regarding the variant at chromosome 1 and position 156137688, affecting gene LMNA (lamin A/C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiomyopathy', 'Charcot-Marie-Tooth_disease_type_2B1', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation', 'Dilated_cardiomyopathy-hypergonadotropic_hypogonadism_syndrome', 'Dilated_cardiomyopathy_1A', 'Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant', 'Emery-Dreifuss_muscular_dystrophy_3,_aut... | CTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGA... | CTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGA... | pathogenic | 15,965 |
Gene LMNA (lamin A/C) variant at chromosome position 156138772 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCG... | TATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCG... | benign | 16,011 |
Is the chromosome 1, position 156864429 variant in NTRK1 (neurotrophic receptor tyrosine kinase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_insensitivity_to_pain_with_anhidrosis'] | TCATCACCCTGGGCCTTCAGATTGGGGTCCAGACTCCTGAGTGCTCCCCATCAGGGCTCGTGTTTCCCAACTCTTTCCAAGCCCCAAGTGGGTCCAGCAGGGTAGGGATGGGAGTGGTAGGGGGAGTGGACAGGCCAGAACTGGGGACTAGCAAGCATGTAGGGTGGTGAGCTGAGATGTCCCCCTGGGTGGGGCTGCAGCCTGACATCCCCCTCCCCACTGCCTGCACAGCCCCCTCCCTCCTCACTCACCCGCAGAGCTAACGAGGAGATAATGGACTCGAATAGACAGATTGATTATGAATCCAAACGAATGAGGCA... | TCATCACCCTGGGCCTTCAGATTGGGGTCCAGACTCCTGAGTGCTCCCCATCAGGGCTCGTGTTTCCCAACTCTTTCCAAGCCCCAAGTGGGTCCAGCAGGGTAGGGATGGGAGTGGTAGGGGGAGTGGACAGGCCAGAACTGGGGACTAGCAAGCATGTAGGGTGGTGAGCTGAGATGTCCCCCTGGGTGGGGCTGCAGCCTGACATCCCCCTCCCCACTGCCTGCACAGCCCCCTCCCTCCTCACTCACCCGCAGAGCTAACGAGGAGATAATGGACTCGAATAGACAGATTGATTATGAATCCAAACGAATGAGGCA... | pathogenic | 16,101 |
A genetic alteration at chromosome 1, position 156873726, in gene NTRK1 (neurotrophic receptor tyrosine kinase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_insensitivity_to_pain_with_anhidrosis'] | TCAACAGGAAGAACGTGACGTGCTGGGCAGAGAACGATGTGGGCCGGGCAGAGGTCTCTGTTCAGGTCAACGTCTCCTGTGAGTCTCAGTGGCAGCTCCGGCACCCACCCCCTACTCATCTCTTCTTCCCTCAAAAGAGGATGTAGGGTGGGGGGCTGGAAGAAAGGGTGGGATGTGTGTCTCCACAGCTGCTCCCTCCCAGCTGTTTCCAGATTCCCATGAAAACCTGATCCTTTGGGGGAAGTCCTGGGGTCTTGTCAAGGCCAGAGGGATGGAGATGGATTTCTTTCTGGCCCCCTGCCCGAGCCTTGCTACCTGAG... | TCAACAGGAAGAACGTGACGTGCTGGGCAGAGAACGATGTGGGCCGGGCAGAGGTCTCTGTTCAGGTCAACGTCTCCTGTGAGTCTCAGTGGCAGCTCCGGCACCCACCCCCTACTCATCTCTTCTTCCCTCAAAAGAGGATGTAGGGTGGGGGGCTGGAAGAAAGGGTGGGATGTGTGTCTCCACAGCTGCTCCCTCCCAGCTGTTTCCAGATTCCCATGAAAACCTGATCCTTTGGGGGAAGTCCTGGGGTCTTGTCAAGGCCAGAGGGATGGAGATGGATTTCTTTCTGGCCCCCTGCCCGAGCCTTGCTACCTGAG... | pathogenic | 16,148 |
A genetic variant on chromosome 1, position 156874567, affects the gene NTRK1 (neurotrophic receptor tyrosine kinase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_insensitivity_to_pain_with_anhidrosis'] | TGTTAATGGGAGTTGCTATATGTAGCTCATGCAATTCATTGCTAAATAGTATTCCTATGTATGAATGCTATATTATATATATATATACATATATTTATGCATACATACACTTTTTTTCTATCATTGAGGGGCTTTTACTTTTACCAGATTGGGTCTATTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGCTCTCGGCTCACTTCAAGCTCCGCCTCCCAGGTTCACGTCATTCTCCTGCTTCAGCCTCCTGAGTATCTGGGACTACAGGCGCCCTCCACCACGCCCAG... | TGTTAATGGGAGTTGCTATATGTAGCTCATGCAATTCATTGCTAAATAGTATTCCTATGTATGAATGCTATATTATATATATATATACATATATTTATGCATACATACACTTTTTTTCTATCATTGAGGGGCTTTTACTTTTACCAGATTGGGTCTATTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGCTCTCGGCTCACTTCAAGCTCCGCCTCCCAGGTTCACGTCATTCTCCTGCTTCAGCCTCCTGAGTATCTGGGACTACAGGCGCCCTCCACCACGCCCAG... | pathogenic | 16,157 |
Clinically, how would you classify the variant at chromosome 1, position 156876474, gene NTRK1 (neurotrophic receptor tyrosine kinase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_insensitivity_to_pain_with_anhidrosis'] | GTTCTGCCTGGTCTCTGGAGCTGAGGCTGGGGCAGAGGGTACAGCTGAACTGATCCCTGAGAGACCAGCTGGGGCCAGGGTTGGGGGGTTACTGGAGGCTACAGTGTGTGTCAAGGCTCACCCCTCCTGCCCTGTGTCCCTACAGACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGGGTGAGATAGGAAGTAGAAGCTTGTGCAGACTTTGGGACCGGGAGGCTGGGTAGAGGCTCATCTGCATGTCATTTCTGGTCAGAGCAGGGAGATCACTACCATCTGGCCTGAGCTCTGAC... | GTTCTGCCTGGTCTCTGGAGCTGAGGCTGGGGCAGAGGGTACAGCTGAACTGATCCCTGAGAGACCAGCTGGGGCCAGGGTTGGGGGGTTACTGGAGGCTACAGTGTGTGTCAAGGCTCACCCCTCCTGCCCTGTGTCCCTACAGACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGGGTGAGATAGGAAGTAGAAGCTTGTGCAGACTTTGGGACCGGGAGGCTGGGTAGAGGCTCATCTGCATGTCATTTCTGGTCAGAGCAGGGAGATCACTACCATCTGGCCTGAGCTCTGAC... | pathogenic | 16,184 |
The mutation in gene NTRK1 (neurotrophic receptor tyrosine kinase 1) at chromosome 1, position 156879117—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTGCAACGGTGTTGCAATAATAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGCAATTCTCCCGCCTTAGCCTCCCCAGTAGCTGGGACTACAGGTGCACACCATTGCACCTGGCTCTACAATTTGTTCTTATTATGGTTCTATGTGCTGGTACATATATATCTTGTATAGTAATATAAATATGTATTTATTTTTTATGGCCTCCAAGCATATATTGCAATTTACACTTGAAGCAAGTTACAAAAAATTCATTTCTTTGGCTTCGGACAGAACAACTCTGATACATTTATCTATTTGTGCTGATAATTTTAATAACTTC... | GTGCAACGGTGTTGCAATAATAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGCAATTCTCCCGCCTTAGCCTCCCCAGTAGCTGGGACTACAGGTGCACACCATTGCACCTGGCTCTACAATTTGTTCTTATTATGGTTCTATGTGCTGGTACATATATATCTTGTATAGTAATATAAATATGTATTTATTTTTTATGGCCTCCAAGCATATATTGCAATTTACACTTGAAGCAAGTTACAAAAAATTCATTTCTTTGGCTTCGGACAGAACAACTCTGATACATTTATCTATTTGTGCTGATAATTTTAATAACTTC... | benign | 16,188 |
Is the chromosome 1, position 156879176 variant in NTRK1 (neurotrophic receptor tyrosine kinase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_insensitivity_to_pain_with_anhidrosis'] | CTCCCGCCTTAGCCTCCCCAGTAGCTGGGACTACAGGTGCACACCATTGCACCTGGCTCTACAATTTGTTCTTATTATGGTTCTATGTGCTGGTACATATATATCTTGTATAGTAATATAAATATGTATTTATTTTTTATGGCCTCCAAGCATATATTGCAATTTACACTTGAAGCAAGTTACAAAAAATTCATTTCTTTGGCTTCGGACAGAACAACTCTGATACATTTATCTATTTGTGCTGATAATTTTAATAACTTCGAGAAATGTGCCTGTTTCACAGATAAGGCTTAGAGAGGTTCAGTGACTTGCCCAAGGGC... | CTCCCGCCTTAGCCTCCCCAGTAGCTGGGACTACAGGTGCACACCATTGCACCTGGCTCTACAATTTGTTCTTATTATGGTTCTATGTGCTGGTACATATATATCTTGTATAGTAATATAAATATGTATTTATTTTTTATGGCCTCCAAGCATATATTGCAATTTACACTTGAAGCAAGTTACAAAAAATTCATTTCTTTGGCTTCGGACAGAACAACTCTGATACATTTATCTATTTGTGCTGATAATTTTAATAACTTCGAGAAATGTGCCTGTTTCACAGATAAGGCTTAGAGAGGTTCAGTGACTTGCCCAAGGGC... | pathogenic | 16,191 |
Regarding the variant found on chromosome 1 at position 156879361 in gene NTRK1 (neurotrophic receptor tyrosine kinase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_insensitivity_to_pain_with_anhidrosis'] | AAAATTCATTTCTTTGGCTTCGGACAGAACAACTCTGATACATTTATCTATTTGTGCTGATAATTTTAATAACTTCGAGAAATGTGCCTGTTTCACAGATAAGGCTTAGAGAGGTTCAGTGACTTGCCCAAGGGCACACAGGTAGTGAATGGCCCAGGGGTGATGTGGCCCCAGGCAGAGCCCCTACTCTCAGCCCCTGATGTGATGGTCACATGTTCCCTCGGTCTAGTCCTTCTCTGATGAGATCACCCCCGGGAGGATGGGGCAGTGTTTGCAAGGCAGGGAGAAGAGCAGGGTTTGGAATCAGCTGCCACTTATGA... | AAAATTCATTTCTTTGGCTTCGGACAGAACAACTCTGATACATTTATCTATTTGTGCTGATAATTTTAATAACTTCGAGAAATGTGCCTGTTTCACAGATAAGGCTTAGAGAGGTTCAGTGACTTGCCCAAGGGCACACAGGTAGTGAATGGCCCAGGGGTGATGTGGCCCCAGGCAGAGCCCCTACTCTCAGCCCCTGATGTGATGGTCACATGTTCCCTCGGTCTAGTCCTTCTCTGATGAGATCACCCCCGGGAGGATGGGGCAGTGTTTGCAAGGCAGGGAGAAGAGCAGGGTTTGGAATCAGCTGCCACTTATGA... | pathogenic | 16,199 |
Variant on chromosome 1, at position 156881481, affecting NTRK1 (neurotrophic receptor tyrosine kinase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_insensitivity_to_pain_with_anhidrosis', 'Inborn_genetic_diseases'] | GAGAGCCTGCCCTTGCTAGGATGGCTGCATGGGTCTGAGATTCACTGGCTCTGGTTTTCAACCTACCTCCTCGGCTCCTGGTGGAGGGGGCTCTGTCTCCTTCGCTATCCCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAG... | GAGAGCCTGCCCTTGCTAGGATGGCTGCATGGGTCTGAGATTCACTGGCTCTGGTTTTCAACCTACCTCCTCGGCTCCTGGTGGAGGGGGCTCTGTCTCCTTCGCTATCCCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAG... | pathogenic | 16,217 |
Is the variant located on chromosome 1 at position 158614280, gene SPTA1 (spectrin alpha, erythrocytic 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Elliptocytosis_2'] | GATGACTTGATGAGTTCCTGCACGTCCTTCAACACTCACCCTGTGTTAATCATAGATGATACTTTCCCTGATGCAAGTATTTTAAGGAGAGGAATGAAGAAAGCTCTTGGAATCAGAGAGAAGAGAGATTACTTCTGGTTGTAATAAAATTCCCCACATCTTTGTTCCCATGACAGATGTGTTTGCTTCTGTTACAGTGTTTTTAACTTGTAAAGTTCTGTCTTCCCCACTACACCTGAATTTAGGGACTGTGTCTTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAATAAATGCTCTTTGAATTA... | GATGACTTGATGAGTTCCTGCACGTCCTTCAACACTCACCCTGTGTTAATCATAGATGATACTTTCCCTGATGCAAGTATTTTAAGGAGAGGAATGAAGAAAGCTCTTGGAATCAGAGAGAAGAGAGATTACTTCTGGTTGTAATAAAATTCCCCACATCTTTGTTCCCATGACAGATGTGTTTGCTTCTGTTACAGTGTTTTTAACTTGTAAAGTTCTGTCTTCCCCACTACACCTGAATTTAGGGACTGTGTCTTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAATAAATGCTCTTTGAATTA... | pathogenic | 16,266 |
For chromosome 1, position 158614313, gene SPTA1 (spectrin alpha, erythrocytic 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ACTCACCCTGTGTTAATCATAGATGATACTTTCCCTGATGCAAGTATTTTAAGGAGAGGAATGAAGAAAGCTCTTGGAATCAGAGAGAAGAGAGATTACTTCTGGTTGTAATAAAATTCCCCACATCTTTGTTCCCATGACAGATGTGTTTGCTTCTGTTACAGTGTTTTTAACTTGTAAAGTTCTGTCTTCCCCACTACACCTGAATTTAGGGACTGTGTCTTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAATAAATGCTCTTTGAATTAATGAGGAAAAAAAAAAGAAATAGCCTTAAAAAC... | ACTCACCCTGTGTTAATCATAGATGATACTTTCCCTGATGCAAGTATTTTAAGGAGAGGAATGAAGAAAGCTCTTGGAATCAGAGAGAAGAGAGATTACTTCTGGTTGTAATAAAATTCCCCACATCTTTGTTCCCATGACAGATGTGTTTGCTTCTGTTACAGTGTTTTTAACTTGTAAAGTTCTGTCTTCCCCACTACACCTGAATTTAGGGACTGTGTCTTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAATAAATGCTCTTTGAATTAATGAGGAAAAAAAAAAGAAATAGCCTTAAAAAC... | benign | 16,268 |
Variant chromosome 1, position 158614313, gene SPTA1 (spectrin alpha, erythrocytic 1): benign or pathogenic? Disease(s)? | benign | ACTCACCCTGTGTTAATCATAGATGATACTTTCCCTGATGCAAGTATTTTAAGGAGAGGAATGAAGAAAGCTCTTGGAATCAGAGAGAAGAGAGATTACTTCTGGTTGTAATAAAATTCCCCACATCTTTGTTCCCATGACAGATGTGTTTGCTTCTGTTACAGTGTTTTTAACTTGTAAAGTTCTGTCTTCCCCACTACACCTGAATTTAGGGACTGTGTCTTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAATAAATGCTCTTTGAATTAATGAGGAAAAAAAAAAGAAATAGCCTTAAAAAC... | ACTCACCCTGTGTTAATCATAGATGATACTTTCCCTGATGCAAGTATTTTAAGGAGAGGAATGAAGAAAGCTCTTGGAATCAGAGAGAAGAGAGATTACTTCTGGTTGTAATAAAATTCCCCACATCTTTGTTCCCATGACAGATGTGTTTGCTTCTGTTACAGTGTTTTTAACTTGTAAAGTTCTGTCTTCCCCACTACACCTGAATTTAGGGACTGTGTCTTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAATAAATGCTCTTTGAATTAATGAGGAAAAAAAAAAGAAATAGCCTTAAAAAC... | benign | 16,269 |
Considering the variant on chromosome 1, location 158614313, involving gene SPTA1 (spectrin alpha, erythrocytic 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACTCACCCTGTGTTAATCATAGATGATACTTTCCCTGATGCAAGTATTTTAAGGAGAGGAATGAAGAAAGCTCTTGGAATCAGAGAGAAGAGAGATTACTTCTGGTTGTAATAAAATTCCCCACATCTTTGTTCCCATGACAGATGTGTTTGCTTCTGTTACAGTGTTTTTAACTTGTAAAGTTCTGTCTTCCCCACTACACCTGAATTTAGGGACTGTGTCTTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAATAAATGCTCTTTGAATTAATGAGGAAAAAAAAAAGAAATAGCCTTAAAAAC... | ACTCACCCTGTGTTAATCATAGATGATACTTTCCCTGATGCAAGTATTTTAAGGAGAGGAATGAAGAAAGCTCTTGGAATCAGAGAGAAGAGAGATTACTTCTGGTTGTAATAAAATTCCCCACATCTTTGTTCCCATGACAGATGTGTTTGCTTCTGTTACAGTGTTTTTAACTTGTAAAGTTCTGTCTTCCCCACTACACCTGAATTTAGGGACTGTGTCTTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAATAAATGCTCTTTGAATTAATGAGGAAAAAAAAAAGAAATAGCCTTAAAAAC... | benign | 16,270 |
Chromosome 1, position 158620432, gene SPTA1 (spectrin alpha, erythrocytic 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | CAGATGGTTTAGACATGGTATAGGATTTCTTTTTGTTCATTTATCGTTGTCAGTGAGTATGTAGAAAAGTATATATCATGAATTGTCTAAACCACCACATTAACCCTCAAAACACCACAGTTTTGACACACCTACTGGATACAACTTTGACCATGTATTCTAATATATTACATCTTCTAAGTCTCCTTTTTCTAGGTCATTTACCCCAGAAGATGTGACATATGTTATCTTCAGGTACAGAACAGTTTGCTATTAATAAGCACAATTAACATAAATTATCTCACTTGATTCTCATTAGAACTTTAGTAGGTACACAACAG... | CAGATGGTTTAGACATGGTATAGGATTTCTTTTTGTTCATTTATCGTTGTCAGTGAGTATGTAGAAAAGTATATATCATGAATTGTCTAAACCACCACATTAACCCTCAAAACACCACAGTTTTGACACACCTACTGGATACAACTTTGACCATGTATTCTAATATATTACATCTTCTAAGTCTCCTTTTTCTAGGTCATTTACCCCAGAAGATGTGACATATGTTATCTTCAGGTACAGAACAGTTTGCTATTAATAAGCACAATTAACATAAATTATCTCACTTGATTCTCATTAGAACTTTAGTAGGTACACAACAG... | pathogenic | 16,285 |
A genetic variant on chromosome 1, position 158620476, affects the gene SPTA1 (spectrin alpha, erythrocytic 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CGTTGTCAGTGAGTATGTAGAAAAGTATATATCATGAATTGTCTAAACCACCACATTAACCCTCAAAACACCACAGTTTTGACACACCTACTGGATACAACTTTGACCATGTATTCTAATATATTACATCTTCTAAGTCTCCTTTTTCTAGGTCATTTACCCCAGAAGATGTGACATATGTTATCTTCAGGTACAGAACAGTTTGCTATTAATAAGCACAATTAACATAAATTATCTCACTTGATTCTCATTAGAACTTTAGTAGGTACACAACAGAATAGCTTCATATGAGGTATTCATAGAAGATTCTGCTTCTGGTT... | CGTTGTCAGTGAGTATGTAGAAAAGTATATATCATGAATTGTCTAAACCACCACATTAACCCTCAAAACACCACAGTTTTGACACACCTACTGGATACAACTTTGACCATGTATTCTAATATATTACATCTTCTAAGTCTCCTTTTTCTAGGTCATTTACCCCAGAAGATGTGACATATGTTATCTTCAGGTACAGAACAGTTTGCTATTAATAAGCACAATTAACATAAATTATCTCACTTGATTCTCATTAGAACTTTAGTAGGTACACAACAGAATAGCTTCATATGAGGTATTCATAGAAGATTCTGCTTCTGGTT... | benign | 16,286 |
Does the genetic variant at chromosome 1, position 158645201, impacting gene SPTA1 (spectrin alpha, erythrocytic 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_spherocytosis_type_3'] | CATGTCTTTCATTCTATAAATCTAAGTCAGAAAGTCTGCATAGGTGTCAAGATAGTTTTAGTCACCTAGAAATGACAGGAAGCCAGAGTATTCCCCCATCTCAATGCTAGCAAAAAGGTCAGTTTGCTATATCTTCCTTTGGCACATAAAACAATCACTCAGGCCTGACCTGTCTAGTACACGTTGGAGCCGCGTAGCAATCTCTTCTTTGGCATAGTGTTCATCAGCAATGAGGCTCTCAGCAAAATGTTCTAGGTCAGTGATCTTCCCTTCCTAAATAAAGGAAAAGGAAAGAGCCCAGATGCTTGGAGATTAGGCTC... | CATGTCTTTCATTCTATAAATCTAAGTCAGAAAGTCTGCATAGGTGTCAAGATAGTTTTAGTCACCTAGAAATGACAGGAAGCCAGAGTATTCCCCCATCTCAATGCTAGCAAAAAGGTCAGTTTGCTATATCTTCCTTTGGCACATAAAACAATCACTCAGGCCTGACCTGTCTAGTACACGTTGGAGCCGCGTAGCAATCTCTTCTTTGGCATAGTGTTCATCAGCAATGAGGCTCTCAGCAAAATGTTCTAGGTCAGTGATCTTCCCTTCCTAAATAAAGGAAAAGGAAAGAGCCCAGATGCTTGGAGATTAGGCTC... | pathogenic | 16,321 |
Regarding the variant found on chromosome 1 at position 158645275 in gene SPTA1 (spectrin alpha, erythrocytic 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | ACAGGAAGCCAGAGTATTCCCCCATCTCAATGCTAGCAAAAAGGTCAGTTTGCTATATCTTCCTTTGGCACATAAAACAATCACTCAGGCCTGACCTGTCTAGTACACGTTGGAGCCGCGTAGCAATCTCTTCTTTGGCATAGTGTTCATCAGCAATGAGGCTCTCAGCAAAATGTTCTAGGTCAGTGATCTTCCCTTCCTAAATAAAGGAAAAGGAAAGAGCCCAGATGCTTGGAGATTAGGCTCTTGGTGCAATCCCAGACTCCCTCCTAGAAAAGAATGAAGGTATCCTTTGTGGATTCAGAAGATATACTCAGGGT... | ACAGGAAGCCAGAGTATTCCCCCATCTCAATGCTAGCAAAAAGGTCAGTTTGCTATATCTTCCTTTGGCACATAAAACAATCACTCAGGCCTGACCTGTCTAGTACACGTTGGAGCCGCGTAGCAATCTCTTCTTTGGCATAGTGTTCATCAGCAATGAGGCTCTCAGCAAAATGTTCTAGGTCAGTGATCTTCCCTTCCTAAATAAAGGAAAAGGAAAGAGCCCAGATGCTTGGAGATTAGGCTCTTGGTGCAATCCCAGACTCCCTCCTAGAAAAGAATGAAGGTATCCTTTGTGGATTCAGAAGATATACTCAGGGT... | pathogenic | 16,322 |
Located at chromosome 1 position 158652467, the variant affecting gene SPTA1 (spectrin alpha, erythrocytic 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic | CAGAAAACTCATCCTCACTGACTATGGCATTCCAGAGAACTAGACTGAACATTTATTAATGTTCATTAGATCTTTTATGGAATCATAGATCCAGATCTGAATCAGGTCAAGAATGGCCTCTCCTCTGTCTCTACTGACCTATATTCTCCTTCTTCAGCACGTTGATCAGAATCTGTGTCTTCCAGTAAACTTTCTTGATCAACCTCTTCCCACTATCATAGCTTCTTTATCTGCATTGTCTTTGAATTCATGTAATTGAGAATTTCTTCTGTGTGTGACAGTGAAAGAGAGGTGAGTATGTGTTGTAATTTAAGAATTTT... | CAGAAAACTCATCCTCACTGACTATGGCATTCCAGAGAACTAGACTGAACATTTATTAATGTTCATTAGATCTTTTATGGAATCATAGATCCAGATCTGAATCAGGTCAAGAATGGCCTCTCCTCTGTCTCTACTGACCTATATTCTCCTTCTTCAGCACGTTGATCAGAATCTGTGTCTTCCAGTAAACTTTCTTGATCAACCTCTTCCCACTATCATAGCTTCTTTATCTGCATTGTCTTTGAATTCATGTAATTGAGAATTTCTTCTGTGTGTGACAGTGAAAGAGAGGTGAGTATGTGTTGTAATTTAAGAATTTT... | pathogenic | 16,332 |
Considering the genetic mutation at chromosome 1, position 158681591, impacting SPTA1 (spectrin alpha, erythrocytic 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | TGATGAGAGGTCACCCAGAGATCTCCTCAATCCTCCCAAATCATCCTCACCAGGGCCCTAGACATGGGATTGAGGCCACCTTAGATCCTTCACCCCAGCTGAGCCACCTGATCACTTCAGACACATAAAAATGCCAGGTAAGATCAGGAAAACAGCCCAGCAGAGCAGCTCAATCATCTGATTCACAGAGTCATTAACAAGTAAGATGTTAAGTTTGTTGATTGGTTAGACAGTAATAGATAAATGAAAAACTTCCACAGCAAGAGAAAAGTGATGGAGGTAGAAAATTTAGAAACTACTGGAAATATGGCCTGAAAGAA... | TGATGAGAGGTCACCCAGAGATCTCCTCAATCCTCCCAAATCATCCTCACCAGGGCCCTAGACATGGGATTGAGGCCACCTTAGATCCTTCACCCCAGCTGAGCCACCTGATCACTTCAGACACATAAAAATGCCAGGTAAGATCAGGAAAACAGCCCAGCAGAGCAGCTCAATCATCTGATTCACAGAGTCATTAACAAGTAAGATGTTAAGTTTGTTGATTGGTTAGACAGTAATAGATAAATGAAAAACTTCCACAGCAAGAGAAAAGTGATGGAGGTAGAAAATTTAGAAACTACTGGAAATATGGCCTGAAAGAA... | pathogenic | 16,375 |
Is the genetic variant on chromosome 1, position 158681595, gene SPTA1 (spectrin alpha, erythrocytic 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Elliptocytosis_2', 'Pyropoikilocytosis,_hereditary', 'SPTA1-related_disorder'] | GAGAGGTCACCCAGAGATCTCCTCAATCCTCCCAAATCATCCTCACCAGGGCCCTAGACATGGGATTGAGGCCACCTTAGATCCTTCACCCCAGCTGAGCCACCTGATCACTTCAGACACATAAAAATGCCAGGTAAGATCAGGAAAACAGCCCAGCAGAGCAGCTCAATCATCTGATTCACAGAGTCATTAACAAGTAAGATGTTAAGTTTGTTGATTGGTTAGACAGTAATAGATAAATGAAAAACTTCCACAGCAAGAGAAAAGTGATGGAGGTAGAAAATTTAGAAACTACTGGAAATATGGCCTGAAAGAAAAAT... | GAGAGGTCACCCAGAGATCTCCTCAATCCTCCCAAATCATCCTCACCAGGGCCCTAGACATGGGATTGAGGCCACCTTAGATCCTTCACCCCAGCTGAGCCACCTGATCACTTCAGACACATAAAAATGCCAGGTAAGATCAGGAAAACAGCCCAGCAGAGCAGCTCAATCATCTGATTCACAGAGTCATTAACAAGTAAGATGTTAAGTTTGTTGATTGGTTAGACAGTAATAGATAAATGAAAAACTTCCACAGCAAGAGAAAAGTGATGGAGGTAGAAAATTTAGAAACTACTGGAAATATGGCCTGAAAGAAAAAT... | pathogenic | 16,376 |
Variant in gene SPTA1 (spectrin alpha, erythrocytic 1), located at chromosome 1 position 158686642: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTT... | TTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTT... | benign | 16,391 |
Determine whether the variant at chromosome 1, position 160039373, in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GAGAGAAAAACAGAAGGGGCTTGGCCATGCAGTCAGAAGTTCTTCCAGCACAGCCGAATTCAACCCTCCACACTCATGGGTAGGTAGGTCTATGAGTTCAGACCTTGACAGTCTTGGTTTAGCTTTTTAAAAGAAGCTAGAGTGACAACCAAAGAGTCATCCATTTTATTTAGTAGCTTATTTTTAACAGACAAAAACAAAACAAATCTTACACACCTTTTTTTTCCTAGATAAATTTGACCTGGTTTAGTCTTTAGTGCAATGAATGGAAAAAACATCCCTAAATACTTCTGCATCAGTAGAGTTGGCCATTACTGAGC... | GAGAGAAAAACAGAAGGGGCTTGGCCATGCAGTCAGAAGTTCTTCCAGCACAGCCGAATTCAACCCTCCACACTCATGGGTAGGTAGGTCTATGAGTTCAGACCTTGACAGTCTTGGTTTAGCTTTTTAAAAGAAGCTAGAGTGACAACCAAAGAGTCATCCATTTTATTTAGTAGCTTATTTTTAACAGACAAAAACAAAACAAATCTTACACACCTTTTTTTTCCTAGATAAATTTGACCTGGTTTAGTCTTTAGTGCAATGAATGGAAAAAACATCCCTAAATACTTCTGCATCAGTAGAGTTGGCCATTACTGAGC... | benign | 16,438 |
Variant in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), chromosome 1, position 160120888—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGAACAAGGCAGCTGCCATACTTCTGGGATTGCTCCTGACTCTGATAAGTAAAAAAGGCATTACCCTGGAGCACAAAAGTCTTAGGGCAGTGAAGCTATTCCATATGATACCACAATGGCGGATACACGTCAGTATACATTTGCCCAAACCCATAGAATGTACACCAAGAGTGAACTCAAACTTAAACTATGGGCTTTGGACGATAAAGATGTATCAATGCAGGTTCATGATTGCAGCAAATGTAACACTCTGATGCAGGGTGTTGATAGTGGGTGAGGCTGTGCATGTGTGGGGGCAGGAGATATATGAGAACTTTCTC... | TGAACAAGGCAGCTGCCATACTTCTGGGATTGCTCCTGACTCTGATAAGTAAAAAAGGCATTACCCTGGAGCACAAAAGTCTTAGGGCAGTGAAGCTATTCCATATGATACCACAATGGCGGATACACGTCAGTATACATTTGCCCAAACCCATAGAATGTACACCAAGAGTGAACTCAAACTTAAACTATGGGCTTTGGACGATAAAGATGTATCAATGCAGGTTCATGATTGCAGCAAATGTAACACTCTGATGCAGGGTGTTGATAGTGGGTGAGGCTGTGCATGTGTGGGGGCAGGAGATATATGAGAACTTTCTC... | benign | 16,476 |
Is the genetic variant on chromosome 1, position 160120891, gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACAAGGCAGCTGCCATACTTCTGGGATTGCTCCTGACTCTGATAAGTAAAAAAGGCATTACCCTGGAGCACAAAAGTCTTAGGGCAGTGAAGCTATTCCATATGATACCACAATGGCGGATACACGTCAGTATACATTTGCCCAAACCCATAGAATGTACACCAAGAGTGAACTCAAACTTAAACTATGGGCTTTGGACGATAAAGATGTATCAATGCAGGTTCATGATTGCAGCAAATGTAACACTCTGATGCAGGGTGTTGATAGTGGGTGAGGCTGTGCATGTGTGGGGGCAGGAGATATATGAGAACTTTCTCTAC... | ACAAGGCAGCTGCCATACTTCTGGGATTGCTCCTGACTCTGATAAGTAAAAAAGGCATTACCCTGGAGCACAAAAGTCTTAGGGCAGTGAAGCTATTCCATATGATACCACAATGGCGGATACACGTCAGTATACATTTGCCCAAACCCATAGAATGTACACCAAGAGTGAACTCAAACTTAAACTATGGGCTTTGGACGATAAAGATGTATCAATGCAGGTTCATGATTGCAGCAAATGTAACACTCTGATGCAGGGTGTTGATAGTGGGTGAGGCTGTGCATGTGTGGGGGCAGGAGATATATGAGAACTTTCTCTAC... | benign | 16,477 |
Is the genetic variant on chromosome 1, position 160125240, gene ATP1A2, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_hemiplegic_migraine'] | CGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCA... | CGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCA... | pathogenic | 16,507 |
Evaluate if the mutation on chromosome 1 at position 160127711 in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_hemiplegic_migraine', 'Inborn_genetic_diseases'] | CTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGC... | CTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGC... | pathogenic | 16,516 |
Does the variant impacting ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on chromosome 1, position 160128633, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAAT... | CAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAAT... | benign | 16,523 |
The mutation in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) at chromosome 1, position 160129092—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTAT... | CATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTAT... | benign | 16,549 |
Does the variant impacting ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on chromosome 1, position 160129137, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTG... | TAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTG... | benign | 16,550 |
Variant in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), located at chromosome 1 position 160130275: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_hemiplegic_migraine'] | TCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAG... | TCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAG... | pathogenic | 16,566 |
Evaluate this variant at chromosome 1, position 160139618, gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAG... | TTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAG... | benign | 16,635 |
A genetic variant at chromosome 1, position 161167208, affecting gene PPOX (protoporphyrinogen oxidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Variegate_porphyria'] | ATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTT... | ATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTT... | pathogenic | 16,825 |
Considering the variant on chromosome 1, location 161167487, involving gene PPOX (protoporphyrinogen oxidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGA... | TGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGA... | pathogenic | 16,826 |
Gene PPOX (protoporphyrinogen oxidase) variant at chromosome 1, position 161169115—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Variegate_porphyria'] | CGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCT... | CGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCT... | pathogenic | 16,831 |
A mutation at chromosome position 161170664 on chromosome 1 in gene PPOX (protoporphyrinogen oxidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic | CTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGA... | CTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGA... | pathogenic | 16,835 |
The genetic variant at chromosome 1, position 161170940, affecting gene PPOX (protoporphyrinogen oxidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | GACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAAC... | GACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAAC... | pathogenic | 16,837 |
A mutation at chromosome position 161171071 on chromosome 1 in gene PPOX (protoporphyrinogen oxidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic | TTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGT... | TTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGT... | pathogenic | 16,839 |
Clinical significance of chromosome 1, position 161223055, gene APOA2 (apolipoprotein A2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTGTTGTTGGGATGGAGATTCACTCTTGGTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGACTCACTGCAACCTCCACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCTTGAGTAGCTGGGATTATAGGCATGTGCCAACACTCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTACCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACTGCACCCAGCTGGTCTTTTGTTTTTAATTAAAAAAATATA... | TTGTTGTTGGGATGGAGATTCACTCTTGGTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGACTCACTGCAACCTCCACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCTTGAGTAGCTGGGATTATAGGCATGTGCCAACACTCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTACCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACTGCACCCAGCTGGTCTTTTGTTTTTAATTAAAAAAATATA... | benign | 16,868 |
Is the chromosome 1, position 161223055 variant in APOA2 (apolipoprotein A2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTGTTGTTGGGATGGAGATTCACTCTTGGTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGACTCACTGCAACCTCCACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCTTGAGTAGCTGGGATTATAGGCATGTGCCAACACTCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTACCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACTGCACCCAGCTGGTCTTTTGTTTTTAATTAAAAAAATATA... | TTGTTGTTGGGATGGAGATTCACTCTTGGTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGACTCACTGCAACCTCCACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCTTGAGTAGCTGGGATTATAGGCATGTGCCAACACTCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTACCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCACTGCACCCAGCTGGTCTTTTGTTTTTAATTAAAAAAATATA... | benign | 16,869 |
Mutation found at chromosome 1 position 161304965, gene MPZ (myelin protein zero): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TTGTGAACGATTTATTTCAAAGTAATAATTAGATGGGATTCAAAGTTTCCCATATAACAATGTCATTTCCCTTTATCTGAATCATTATTCTAGACTTTATTTAATGCTTTACTGCAGAGGAAAGAAAGGGGGGATGTGGCTTACTTTGTTGGGGATTGTGGAAAATGGGCACAGTCCTGGAAAAACCCACATTAAGTGTGCAATGCTTGTGAAAATGCCTAATGCAAGAGATTGCAAAATGTTGTCCCAGGGTACCAGGATTCTTGATGGAATAAGAAATATTAAAATAATTGGATAAACTGAGCTAGCAAAATGCAGGT... | TTGTGAACGATTTATTTCAAAGTAATAATTAGATGGGATTCAAAGTTTCCCATATAACAATGTCATTTCCCTTTATCTGAATCATTATTCTAGACTTTATTTAATGCTTTACTGCAGAGGAAAGAAAGGGGGGATGTGGCTTACTTTGTTGGGGATTGTGGAAAATGGGCACAGTCCTGGAAAAACCCACATTAAGTGTGCAATGCTTGTGAAAATGCCTAATGCAAGAGATTGCAAAATGTTGTCCCAGGGTACCAGGATTCTTGATGGAATAAGAAATATTAAAATAATTGGATAAACTGAGCTAGCAAAATGCAGGT... | benign | 16,875 |
Variant at chromosome position 161305920, chromosome 1, gene MPZ (myelin protein zero): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases'] | AAGACATTGAAGACACCCCTCAAACAAATGGAAGCACTCTGGGTTTTGGTAAAGCTGGTGTTAATCATATCTTTAGCTTCTTAACAAGGGGAAGAAATTACTTGTGGGCACTTTGGGTTTTTTTGTGCCATCAGTAATCCCCAGGGGAAAATGATACGTATATGTTTTTCCACAATCAGTTCAGGATACCAGGATATTAATGGTATACCTAAATCAACATACCAACAAACTAGCTAATGAGGTATTAATAGTATACCTATTAATAGGTAAACAGAAGTAAAATCATGTACCAACAAAACAAAGCAGTGATTGTTTAGAGA... | AAGACATTGAAGACACCCCTCAAACAAATGGAAGCACTCTGGGTTTTGGTAAAGCTGGTGTTAATCATATCTTTAGCTTCTTAACAAGGGGAAGAAATTACTTGTGGGCACTTTGGGTTTTTTTGTGCCATCAGTAATCCCCAGGGGAAAATGATACGTATATGTTTTTCCACAATCAGTTCAGGATACCAGGATATTAATGGTATACCTAAATCAACATACCAACAAACTAGCTAATGAGGTATTAATAGTATACCTATTAATAGGTAAACAGAAGTAAAATCATGTACCAACAAAACAAAGCAGTGATTGTTTAGAGA... | pathogenic | 16,880 |
Determine whether the variant at chromosome 1, position 161305976, in gene MPZ (myelin protein zero) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease,_type_I', 'Inborn_genetic_diseases'] | GGTGTTAATCATATCTTTAGCTTCTTAACAAGGGGAAGAAATTACTTGTGGGCACTTTGGGTTTTTTTGTGCCATCAGTAATCCCCAGGGGAAAATGATACGTATATGTTTTTCCACAATCAGTTCAGGATACCAGGATATTAATGGTATACCTAAATCAACATACCAACAAACTAGCTAATGAGGTATTAATAGTATACCTATTAATAGGTAAACAGAAGTAAAATCATGTACCAACAAAACAAAGCAGTGATTGTTTAGAGAGGTGAATGGGATTTGTGCTAATTTGTAAAGTGTACTACCTTAGGCAAGCACTAGAA... | GGTGTTAATCATATCTTTAGCTTCTTAACAAGGGGAAGAAATTACTTGTGGGCACTTTGGGTTTTTTTGTGCCATCAGTAATCCCCAGGGGAAAATGATACGTATATGTTTTTCCACAATCAGTTCAGGATACCAGGATATTAATGGTATACCTAAATCAACATACCAACAAACTAGCTAATGAGGTATTAATAGTATACCTATTAATAGGTAAACAGAAGTAAAATCATGTACCAACAAAACAAAGCAGTGATTGTTTAGAGAGGTGAATGGGATTTGTGCTAATTTGTAAAGTGTACTACCTTAGGCAAGCACTAGAA... | pathogenic | 16,885 |
Variant on chromosome 1, at position 161306349, affecting MPZ (myelin protein zero): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease,_type_I', 'Dejerine-Sottas_disease'] | GTTTTCCATACACAGGATCTCATTTGATTATTATAAAATCCCTAGGAATTAAGCAGGGCAGATATCATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAG... | GTTTTCCATACACAGGATCTCATTTGATTATTATAAAATCCCTAGGAATTAAGCAGGGCAGATATCATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAG... | pathogenic | 16,891 |
Variant at chromosome position 161306354, chromosome 1, gene MPZ (myelin protein zero): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Dejerine-Sottas_disease', 'Neuropathy,_congenital_hypomyelinating,_2'] | CCATACACAGGATCTCATTTGATTATTATAAAATCCCTAGGAATTAAGCAGGGCAGATATCATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCAC... | CCATACACAGGATCTCATTTGATTATTATAAAATCCCTAGGAATTAAGCAGGGCAGATATCATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCAC... | pathogenic | 16,892 |
Regarding the variant found on chromosome 1 at position 161306426 in gene MPZ (myelin protein zero): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I', 'Intellectual_disability'] | TGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATT... | TGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATT... | pathogenic | 16,897 |
For chromosome 1, position 161306718, gene MPZ (myelin protein zero): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I', 'Charcot-Marie-Tooth_disease_dominant_intermediate_D', 'Charcot-Marie-Tooth_disease_type_1B', 'Charcot-Marie-Tooth_disease_type_2I', 'Charcot-Marie-Tooth_disease_type_2J', 'Inborn_genetic_diseases', 'MPZ-related_disorder'] | GGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCA... | GGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCA... | pathogenic | 16,905 |
Does the variant on chromosome 1 at location 161306849 affecting gene MPZ (myelin protein zero) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_Dejerine-Sottas_syndrome', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I', 'Charcot-Marie-Tooth_disease_dominant_intermediate_D', 'Charcot-Marie-Tooth_disease_type_1B'] | ATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAA... | ATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAA... | pathogenic | 16,929 |
Gene MPZ (myelin protein zero) variant at chromosome 1, position 161306854—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Charcot-Marie-Tooth_disease,_type_I', 'Inborn_genetic_diseases'] | GAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCC... | GAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCC... | pathogenic | 16,932 |
Classify the chromosome 1 variant at position 161306885 affecting gene MPZ (myelin protein zero) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease,_type_I'] | TGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTG... | TGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTG... | pathogenic | 16,942 |
Variant chromosome 1, position 161307290, gene MPZ (myelin protein zero): benign or pathogenic? Disease(s)? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I'] | GTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTT... | GTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTT... | pathogenic | 16,953 |
Mutation found at chromosome 1 position 161307301, gene MPZ (myelin protein zero): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I', 'Charcot-Marie-Tooth_disease_type_1B'] | GTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAG... | GTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAG... | pathogenic | 16,955 |
Located at chromosome 1 position 161307354, the variant affecting gene MPZ (myelin protein zero)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I'] | AGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGG... | AGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGG... | pathogenic | 16,961 |
Evaluate the clinical significance of the mutation at chromosome 1, position 161307355 in gene MPZ (myelin protein zero): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_type_I'] | GGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGG... | GGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGG... | pathogenic | 16,962 |
The mutation impacting MPZ (myelin protein zero) on chromosome 1 at position 161307414: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease,_type_I'] | GGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATC... | GGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATC... | pathogenic | 16,970 |
Is the genetic change at chromosome 1, position 161314421, within gene SDHC (succinate dehydrogenase complex subunit C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_3'] | ACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTGACAAAAAGTCCAT... | ACCATCATCATTGACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTGACAAAAAGTCCAT... | pathogenic | 16,994 |
Variant in SDHC, chromosome 1, position 161314434—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTGACAAAAAGTCCATAACTACATGCTAA... | ACAAATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTGACAAAAAGTCCATAACTACATGCTAA... | benign | 16,997 |
Variant chromosome 1, position 161314437, gene SDHC (succinate dehydrogenase complex subunit C): benign or pathogenic? Disease(s)? | benign | AATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTGACAAAAAGTCCATAACTACATGCTAAATG... | AATGTTTACAGGATGTTGTAGTCAACATTTCTATAAAACAGCAATTCAAAGTACAAAAAAAAAAAAACCCCCAAAACTCTCCCCTCCAAAATTTCCACCTAACTCCACCTCCCAACTGTAAGCAATCATTTCCTCTTTATCTAACCACCCCTTTTATCAACACCCTCTTCAATGGGTTGTTGCTACTTTCTTTGTTGCATGTCTTTATTGATCCTGCTAAGGCTATAACCTTCTTGGGGACAGTACAAACATCTGTATCTTTGAATCCCCTACAGAACTTTTCACGGACTGACAAAAAGTCCATAACTACATGCTAAATG... | benign | 16,998 |
Variant at chromosome position 161323639, chromosome 1, gene SDHC (succinate dehydrogenase complex subunit C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Paragangliomas_3'] | CTTTCTGGGAGCCTTGGGTATACAATGTCTGTATTCACCTCTTGCCTTCAAAGCTGGAAAGAGGGAAGAGCTGAAGAAGGAAGTGTTCGTTAGATTTTTTTCCTTTAAATAGTGGGCCCTTCTAGTGTACTAATATGAAGCTTTTGAAAAGTTTGTGCATCTAATATCAATGGTGTGAGGGACATCATGAGCTTTTTTAGAAGATCATTAGATCTGTATGAGATCTTGTGTCCTAGTGCCTTGCAAGTAGTGGATATGCAATAAACTTTTGTAGAATCAATGTGTTTTTAAGTTTTAGTCCCAGAAATTCACTCTATTTA... | CTTTCTGGGAGCCTTGGGTATACAATGTCTGTATTCACCTCTTGCCTTCAAAGCTGGAAAGAGGGAAGAGCTGAAGAAGGAAGTGTTCGTTAGATTTTTTTCCTTTAAATAGTGGGCCCTTCTAGTGTACTAATATGAAGCTTTTGAAAAGTTTGTGCATCTAATATCAATGGTGTGAGGGACATCATGAGCTTTTTTAGAAGATCATTAGATCTGTATGAGATCTTGTGTCCTAGTGCCTTGCAAGTAGTGGATATGCAATAAACTTTTGTAGAATCAATGTGTTTTTAAGTTTTAGTCCCAGAAATTCACTCTATTTA... | pathogenic | 17,010 |
Does the variant impacting SDHC (succinate dehydrogenase complex subunit C) on chromosome 1, position 161328413, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_3'] | TGACCCAGACCCCAAGAGAGGGCTCTTGGATCTCATGTAGGAAGGAATTCAAGGTGAGTAGCAAAGTGCAGTGAAAGAAGCAAGTTTATTAGAAACTACTCAATTATATAGTAGGGTGTCCTCAGAAAGCAAGTGGGGGAACATGCTGTCTTTGAGTTTCTTTTTTTCTTCTCTCTTTCTCTCTCTTTTTTTTTTTAAATATATATATATATATATTAGGTCTTTAAGGTTTTATTTTATTTTATTTTAATTTTTAATTTTTTTTTTTTCTTTTTTTTTGAGACAGAGTCTCGTTCTGTCGACCAGGCTGGAGTGTAGTG... | TGACCCAGACCCCAAGAGAGGGCTCTTGGATCTCATGTAGGAAGGAATTCAAGGTGAGTAGCAAAGTGCAGTGAAAGAAGCAAGTTTATTAGAAACTACTCAATTATATAGTAGGGTGTCCTCAGAAAGCAAGTGGGGGAACATGCTGTCTTTGAGTTTCTTTTTTTCTTCTCTCTTTCTCTCTCTTTTTTTTTTTAAATATATATATATATATATTAGGTCTTTAAGGTTTTATTTTATTTTATTTTAATTTTTAATTTTTTTTTTTTCTTTTTTTTTGAGACAGAGTCTCGTTCTGTCGACCAGGCTGGAGTGTAGTG... | pathogenic | 17,026 |
Classify the chromosome 1 variant at position 161328435 affecting gene SDHC (succinate dehydrogenase complex subunit C) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_3'] | CTCTTGGATCTCATGTAGGAAGGAATTCAAGGTGAGTAGCAAAGTGCAGTGAAAGAAGCAAGTTTATTAGAAACTACTCAATTATATAGTAGGGTGTCCTCAGAAAGCAAGTGGGGGAACATGCTGTCTTTGAGTTTCTTTTTTTCTTCTCTCTTTCTCTCTCTTTTTTTTTTTAAATATATATATATATATATTAGGTCTTTAAGGTTTTATTTTATTTTATTTTAATTTTTAATTTTTTTTTTTTCTTTTTTTTTGAGACAGAGTCTCGTTCTGTCGACCAGGCTGGAGTGTAGTGGCGTGATCTGGGCTCACTGCAA... | CTCTTGGATCTCATGTAGGAAGGAATTCAAGGTGAGTAGCAAAGTGCAGTGAAAGAAGCAAGTTTATTAGAAACTACTCAATTATATAGTAGGGTGTCCTCAGAAAGCAAGTGGGGGAACATGCTGTCTTTGAGTTTCTTTTTTTCTTCTCTCTTTCTCTCTCTTTTTTTTTTTAAATATATATATATATATATTAGGTCTTTAAGGTTTTATTTTATTTTATTTTAATTTTTAATTTTTTTTTTTTCTTTTTTTTTGAGACAGAGTCTCGTTCTGTCGACCAGGCTGGAGTGTAGTGGCGTGATCTGGGCTCACTGCAA... | pathogenic | 17,031 |
Classify the chromosome 1 variant at position 161340644 affecting gene SDHC (succinate dehydrogenase complex subunit C) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_3'] | TATTTCAGAACTACTGTGGATTAAGAAATATATACTAAATCCAGAAGATTGGATATAAAAATTTGGGATAGGTAACTTATTAGGAAATAAGTGGTATGTTCAGTTTGGATATTTTGGGGCATATAATAAGGGAGGATTCAAGGATGACCATGTATTATATGAAACTGTGGATAAATGAAACTCAGGTTTTCTTCCATCAGTGTTATACCTGGAGAAATAGAGGGACCCAGGTTGTATTACAGTGATTGCTTTCTTTCTTTTTCTTTTTTTTGAGATGGAGTCACCCTCTGTCGCCCAGACTGGAGTGCAGTGGCGTGATC... | TATTTCAGAACTACTGTGGATTAAGAAATATATACTAAATCCAGAAGATTGGATATAAAAATTTGGGATAGGTAACTTATTAGGAAATAAGTGGTATGTTCAGTTTGGATATTTTGGGGCATATAATAAGGGAGGATTCAAGGATGACCATGTATTATATGAAACTGTGGATAAATGAAACTCAGGTTTTCTTCCATCAGTGTTATACCTGGAGAAATAGAGGGACCCAGGTTGTATTACAGTGATTGCTTTCTTTCTTTTTCTTTTTTTTGAGATGGAGTCACCCTCTGTCGCCCAGACTGGAGTGCAGTGGCGTGATC... | pathogenic | 17,054 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 161356664, gene SDHC (succinate dehydrogenase complex subunit C): what disease(s) if pathogenic? | benign | TCTTTTTTTTTTTTTAATTCCCATTTTACAGATGATGTCTTATTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTCATTTGAGATGGAGCCTCACGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTC... | TCTTTTTTTTTTTTTAATTCCCATTTTACAGATGATGTCTTATTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTCATTTGAGATGGAGCCTCACGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTC... | benign | 17,056 |
Regarding the variant found on chromosome 1 at position 161356679 in gene SDHC (succinate dehydrogenase complex subunit C): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_3'] | AATTCCCATTTTACAGATGATGTCTTATTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTCATTTGAGATGGAGCCTCACGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAAT... | AATTCCCATTTTACAGATGATGTCTTATTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTCATTTGAGATGGAGCCTCACGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAAT... | pathogenic | 17,057 |
Located at chromosome 1 position 161356710, the variant affecting gene SDHC (succinate dehydrogenase complex subunit C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_3'] | TTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTCATTTGAGATGGAGCCTCACGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGA... | TTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTCATTTGAGATGGAGCCTCACGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGA... | pathogenic | 17,061 |
For chromosome 1, position 161356807, gene SDHC (succinate dehydrogenase complex subunit C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_3'] | GAGTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGA... | GAGTGCAGTGGTGCGATCTCAGCTTCCTGCAACCTCCACCTCCCAGGTTCAAGAGTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACAACTGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTCACCACAAATAATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCAGCCAAGATAACATCTTATTTCTAATTTGAGTTTCATATTTGTTATACTTGATTTCTCAGTCATTGGTGGTCGA... | pathogenic | 17,078 |
The genetic variant at chromosome 1, position 161362301, affecting gene SDHC (succinate dehydrogenase complex subunit C): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTGTTTTGTTAAATGTGGGGCTGGGGGCATGGTAGCTCATGTCTGTAACCCTAGCACTTTGGGAGGCCAAGGCAGGTGAATTGCTTGAGCTCAGGAGTTCAAAACTAGCCTGGGCAACGTGGCAAAACTTCATCTCTACCAAAAATACAAAAAATTAGCTGGGCATGGTGATGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGTCAAGGCCTCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTAGGTGACAAAGTGAGACCCTGTCTCAAAAAATTAAAAAAAAA... | GTGTTTTGTTAAATGTGGGGCTGGGGGCATGGTAGCTCATGTCTGTAACCCTAGCACTTTGGGAGGCCAAGGCAGGTGAATTGCTTGAGCTCAGGAGTTCAAAACTAGCCTGGGCAACGTGGCAAAACTTCATCTCTACCAAAAATACAAAAAATTAGCTGGGCATGGTGATGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGTCAAGGCCTCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTAGGTGACAAAGTGAGACCCTGTCTCAAAAAATTAAAAAAAAA... | benign | 17,093 |
Clinical significance of chromosome 1, position 161362301, gene SDHC (succinate dehydrogenase complex subunit C): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTGTTTTGTTAAATGTGGGGCTGGGGGCATGGTAGCTCATGTCTGTAACCCTAGCACTTTGGGAGGCCAAGGCAGGTGAATTGCTTGAGCTCAGGAGTTCAAAACTAGCCTGGGCAACGTGGCAAAACTTCATCTCTACCAAAAATACAAAAAATTAGCTGGGCATGGTGATGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGTCAAGGCCTCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTAGGTGACAAAGTGAGACCCTGTCTCAAAAAATTAAAAAAAAA... | GTGTTTTGTTAAATGTGGGGCTGGGGGCATGGTAGCTCATGTCTGTAACCCTAGCACTTTGGGAGGCCAAGGCAGGTGAATTGCTTGAGCTCAGGAGTTCAAAACTAGCCTGGGCAACGTGGCAAAACTTCATCTCTACCAAAAATACAAAAAATTAGCTGGGCATGGTGATGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGTCAAGGCCTCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTAGGTGACAAAGTGAGACCCTGTCTCAAAAAATTAAAAAAAAA... | benign | 17,094 |
Chromosome 1, position 161784093, gene ATF6 (activating transcription factor 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Achromatopsia_7'] | ATTTTGTAGTTTGGTCATACTCAAAATTAGGTGGGGTTATTGGGCTATTCTGGTAGGTTAAAAGATTCCTGGTGTTATGCATTCTACTTCTGGTATGGCAATTATGTAAACAAATTTCTTGCCAAAAATGGATATGAGGAGTTTCATAGTTATGTTTCAGTAGTGTAATGAATGAACAGTTCATATCAGAAATAGAAATAGTGATTTTGAATTATGAATAATGTCTCTGTATAAGATTAACCTGAGAACCAGACAGGGCTTAGGGAATCAAAGGGAAGAGCCTGGGTTACCAGAACCTAGGAACTTGGTGGAGGAGTCCC... | ATTTTGTAGTTTGGTCATACTCAAAATTAGGTGGGGTTATTGGGCTATTCTGGTAGGTTAAAAGATTCCTGGTGTTATGCATTCTACTTCTGGTATGGCAATTATGTAAACAAATTTCTTGCCAAAAATGGATATGAGGAGTTTCATAGTTATGTTTCAGTAGTGTAATGAATGAACAGTTCATATCAGAAATAGAAATAGTGATTTTGAATTATGAATAATGTCTCTGTATAAGATTAACCTGAGAACCAGACAGGGCTTAGGGAATCAAAGGGAAGAGCCTGGGTTACCAGAACCTAGGAACTTGGTGGAGGAGTCCC... | pathogenic | 17,145 |
The mutation impacting DDR2 (discoidin domain receptor tyrosine kinase 2) on chromosome 1 at position 162759993: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATTTATTTATTCGACAAATATATTTTGAGTGCTTACCTTGCGCCAAGCATTTTCCATTACTATGAAGAGAAGTATAATTTATGGAAAAGGGAAACCAAGGAGAAAGACTTAGTTCAGTAGGGGATGATGATGGATTTAGTTTGGAGTGTAGGTCTGTGAGACTGAGAAGACATTCAGTAGAGAAATAAGGAAGGTAGCCGGAATTATGGCTCTTAACTCCAGGGGAAAGATAAAAAAAATTACAAAAATGTAGACATCATTGGCTTTCATTTAATAATTGAAGTAATGAAATATCTGGTGGAGGTGGCTGAGTGAAGAGA... | ATTTATTTATTCGACAAATATATTTTGAGTGCTTACCTTGCGCCAAGCATTTTCCATTACTATGAAGAGAAGTATAATTTATGGAAAAGGGAAACCAAGGAGAAAGACTTAGTTCAGTAGGGGATGATGATGGATTTAGTTTGGAGTGTAGGTCTGTGAGACTGAGAAGACATTCAGTAGAGAAATAAGGAAGGTAGCCGGAATTATGGCTCTTAACTCCAGGGGAAAGATAAAAAAAATTACAAAAATGTAGACATCATTGGCTTTCATTTAATAATTGAAGTAATGAAATATCTGGTGGAGGTGGCTGAGTGAAGAGA... | benign | 17,200 |
Evaluate if the mutation on chromosome 1 at position 162780420 in DDR2 (discoidin domain receptor tyrosine kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGGATCTCATCCCCAGAGAAACAGAACCAAGCTGAGATCATGAGAATGAAAGAATGGGCTGTTTCTAAATACTCCATGCACATCTTGGCATTTTCAGAATTCCTTGCCTGTGGTGGGGGAAGGGGTATAGCTGCAGATTATGAAATTTAACAGGGTGTTGTTGTGCACAGGTTATTCTGATTTCCCATTCTTTTCTTTACTTAAATAGGGCAAGTTCACTACAGCAAGTGATGTGTGGGCCTTTGGGGTTACTTTGTGGGAGACTTTCACCTTTTGTCAAGAACAGCCCTATTCCCAGCTGTCAGATGAACAGGTTATTG... | TGGATCTCATCCCCAGAGAAACAGAACCAAGCTGAGATCATGAGAATGAAAGAATGGGCTGTTTCTAAATACTCCATGCACATCTTGGCATTTTCAGAATTCCTTGCCTGTGGTGGGGGAAGGGGTATAGCTGCAGATTATGAAATTTAACAGGGTGTTGTTGTGCACAGGTTATTCTGATTTCCCATTCTTTTCTTTACTTAAATAGGGCAAGTTCACTACAGCAAGTGATGTGTGGGCCTTTGGGGTTACTTTGTGGGAGACTTTCACCTTTTGTCAAGAACAGCCCTATTCCCAGCTGTCAGATGAACAGGTTATTG... | benign | 17,223 |
Variant in gene PBX1 (PBX homeobox 1), located at chromosome 1 position 164792478: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATATTCAGGTTTGAAGAGAGAAGATCATGACGTGGTAGTGTTGTGGTTTGCGTCTAGGGTGCAGGCTTCCTTCTTTTCTCCTTCCCAGCTACCTGCTCTCCCTCCTCCCTCCCTCCTTTCCTTCCTCTCATCCTTTTTTACTTCACCACGGAGCCCAAGCTTCTGCCCTGCACCTTTTGTCCTCTTTGCTCTTTATGGCCACCACTGATCCACATGGCTCGCCATTCCATTTGATGGTCTCGTGTTTTGTGAGAGCCATACTGTAGTTTTCCTTTTGGCCTAGGAATTGGGATTTCCTTCTGAACAACGTTCAGGGTTGG... | ATATTCAGGTTTGAAGAGAGAAGATCATGACGTGGTAGTGTTGTGGTTTGCGTCTAGGGTGCAGGCTTCCTTCTTTTCTCCTTCCCAGCTACCTGCTCTCCCTCCTCCCTCCCTCCTTTCCTTCCTCTCATCCTTTTTTACTTCACCACGGAGCCCAAGCTTCTGCCCTGCACCTTTTGTCCTCTTTGCTCTTTATGGCCACCACTGATCCACATGGCTCGCCATTCCATTTGATGGTCTCGTGTTTTGTGAGAGCCATACTGTAGTTTTCCTTTTGGCCTAGGAATTGGGATTTCCTTCTGAACAACGTTCAGGGTTGG... | benign | 17,230 |
Chromosome 1, position 165768199, gene TMCO1 (transmembrane and coiled-coil domains 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Craniofacial_dysmorphism,_skeletal_anomalies,_and_impaired_intellectual_development_1', 'Inborn_genetic_diseases', 'TMCO1-related_disorder'] | AGAATTATGGCCTGAGCAAGTGGAAGGACAGAAATGCCATTGACCAAGATAAAGAAGGCTACAAATGACACAGGCTTAGACATGAGGAACAAGTATTCAATTTGGGACGTGTTGGGACTGAGCTGTCCACCAAACATTCTAGCTGACATAACAAATTGATGCGTGGATATATGAATCTTGTATTAAGAAGAGAGGGCCACAGACATAAATTTGGGAGTCACTGGCCAATACAGCCAAAAGATAAGTTCACCAAGGAAGTGAATGTAGAGAAAAAAACTAAATTTTGTGTCACTCCCAACAACGGGAGGTCAAGAAATGAA... | AGAATTATGGCCTGAGCAAGTGGAAGGACAGAAATGCCATTGACCAAGATAAAGAAGGCTACAAATGACACAGGCTTAGACATGAGGAACAAGTATTCAATTTGGGACGTGTTGGGACTGAGCTGTCCACCAAACATTCTAGCTGACATAACAAATTGATGCGTGGATATATGAATCTTGTATTAAGAAGAGAGGGCCACAGACATAAATTTGGGAGTCACTGGCCAATACAGCCAAAAGATAAGTTCACCAAGGAAGTGAATGTAGAGAAAAAAACTAAATTTTGTGTCACTCCCAACAACGGGAGGTCAAGAAATGAA... | pathogenic | 17,259 |
Does the chromosome 1 mutation at position 168281244 within gene TBX19 (T-box transcription factor 19) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_isolated_adrenocorticotropic_hormone_deficiency'] | AAATCGATTAGATTTTTTGCAAACACAAAGCCAATCATGCTGTTTTCCTACTTAATACTCTCCAATTGTTTCCTATCTCATGCTGAAGAACATTCAAATTCTTCATCATGACTTCTAAGGCCTCATGGTCTGGCCTGGCCCTCTCTCAAAGAACATCTCATTCTGCTCTCTTTACCACCACATTCTGGTCACACTGGCCTCCCTGGAGATTTCTACCTGGCTCAAGCCATGCTTCTCACATGTAATTCTTCTGCTTGGCACTCTGCCAACTCTTCCCCGACTACATCTTTGCTGAGCTTTTGGTCTCATCTGAAATGTCT... | AAATCGATTAGATTTTTTGCAAACACAAAGCCAATCATGCTGTTTTCCTACTTAATACTCTCCAATTGTTTCCTATCTCATGCTGAAGAACATTCAAATTCTTCATCATGACTTCTAAGGCCTCATGGTCTGGCCTGGCCCTCTCTCAAAGAACATCTCATTCTGCTCTCTTTACCACCACATTCTGGTCACACTGGCCTCCCTGGAGATTTCTACCTGGCTCAAGCCATGCTTCTCACATGTAATTCTTCTGCTTGGCACTCTGCCAACTCTTCCCCGACTACATCTTTGCTGAGCTTTTGGTCTCATCTGAAATGTCT... | pathogenic | 17,405 |
Located at chromosome 1 position 168293285, the variant affecting gene TBX19 (T-box transcription factor 19)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TCCCTACGGACAGTCACCGCTGGAAGTACGTCAACGGGGAATGGGTGCCCGCTGGCAAGCCAGAGGTCTCCAGCCACAGCTGCGTCTACATTCACCCGGACTCCCCCAACTTTGGGGCCCACTGGATGAAAGCTCCCATCTCCTTCAGCAAAGTGAAGCTGACCAACAAGCTCAATGGAGGCGGGCAGGTACGAATGAGGCGGGCAGGCCTGGCCACCCGCTCCGGCCTCCCCACAACACCAATCAAGAAATATCAAGGGTGCATTTAGGCAATTAGAGGTGTCCTCACCAGCCTCTTCTCCCACAGAAGCCAATTATTC... | TCCCTACGGACAGTCACCGCTGGAAGTACGTCAACGGGGAATGGGTGCCCGCTGGCAAGCCAGAGGTCTCCAGCCACAGCTGCGTCTACATTCACCCGGACTCCCCCAACTTTGGGGCCCACTGGATGAAAGCTCCCATCTCCTTCAGCAAAGTGAAGCTGACCAACAAGCTCAATGGAGGCGGGCAGGTACGAATGAGGCGGGCAGGCCTGGCCACCCGCTCCGGCCTCCCCACAACACCAATCAAGAAATATCAAGGGTGCATTTAGGCAATTAGAGGTGTCCTCACCAGCCTCTTCTCCCACAGAAGCCAATTATTC... | benign | 17,408 |
Located at chromosome 1 position 168293287, the variant affecting gene TBX19 (T-box transcription factor 19)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CCTACGGACAGTCACCGCTGGAAGTACGTCAACGGGGAATGGGTGCCCGCTGGCAAGCCAGAGGTCTCCAGCCACAGCTGCGTCTACATTCACCCGGACTCCCCCAACTTTGGGGCCCACTGGATGAAAGCTCCCATCTCCTTCAGCAAAGTGAAGCTGACCAACAAGCTCAATGGAGGCGGGCAGGTACGAATGAGGCGGGCAGGCCTGGCCACCCGCTCCGGCCTCCCCACAACACCAATCAAGAAATATCAAGGGTGCATTTAGGCAATTAGAGGTGTCCTCACCAGCCTCTTCTCCCACAGAAGCCAATTATTCCC... | CCTACGGACAGTCACCGCTGGAAGTACGTCAACGGGGAATGGGTGCCCGCTGGCAAGCCAGAGGTCTCCAGCCACAGCTGCGTCTACATTCACCCGGACTCCCCCAACTTTGGGGCCCACTGGATGAAAGCTCCCATCTCCTTCAGCAAAGTGAAGCTGACCAACAAGCTCAATGGAGGCGGGCAGGTACGAATGAGGCGGGCAGGCCTGGCCACCCGCTCCGGCCTCCCCACAACACCAATCAAGAAATATCAAGGGTGCATTTAGGCAATTAGAGGTGTCCTCACCAGCCTCTTCTCCCACAGAAGCCAATTATTCCC... | benign | 17,409 |
The genetic variant at chromosome 1, position 168305060, affecting gene TBX19 (T-box transcription factor 19): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Congenital_isolated_adrenocorticotropic_hormone_deficiency', 'TBX19-related_disorder'] | ATTCAGATAGTATTTCTTTTTATTTATTTATTTATTTATTTTTGTTATACTTTAAGTTCTAGGGTACATGTTCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGTACCCATTAACTCGTCATTTACATTAGATATATCTCCTAATGCTATCCCTCCCCACTCCCACTACCCCACGACAGGTCCTGGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGCTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATG... | ATTCAGATAGTATTTCTTTTTATTTATTTATTTATTTATTTTTGTTATACTTTAAGTTCTAGGGTACATGTTCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGTACCCATTAACTCGTCATTTACATTAGATATATCTCCTAATGCTATCCCTCCCCACTCCCACTACCCCACGACAGGTCCTGGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGCTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATG... | pathogenic | 17,417 |
Clinical classification of chromosome 1, position 169468630, gene SLC19A2 (solute carrier family 19 member 2): benign or pathogenic? Disease(s) if pathogenic? | benign | GGTATACGTGTGCCATGGTGGTTTGCTGCACCTATCAACCCATCATCTAGGTTTTAAGCCCTGCATACATTAGGTATTTGTCCTAATGCTCTCCCTTCCCTTGCCTCCCACCCCCCAACAGGCCCCAATGTGTGTTGTTCCCCTCCCTGTGTCCATGTGTTCTCATTGTCCAACACCGACTTATGAGTGAGAACATGCAGTGTTTGGTTTTCTGTTCCTGTGTTAGTTTGCGGCGGATGATGCCCTAAGCGAAATTTTAATGTGACTATATGGTTTATTAACATCATCATCATCATCATCTTCTTAAAATAACATACTAA... | GGTATACGTGTGCCATGGTGGTTTGCTGCACCTATCAACCCATCATCTAGGTTTTAAGCCCTGCATACATTAGGTATTTGTCCTAATGCTCTCCCTTCCCTTGCCTCCCACCCCCCAACAGGCCCCAATGTGTGTTGTTCCCCTCCCTGTGTCCATGTGTTCTCATTGTCCAACACCGACTTATGAGTGAGAACATGCAGTGTTTGGTTTTCTGTTCCTGTGTTAGTTTGCGGCGGATGATGCCCTAAGCGAAATTTTAATGTGACTATATGGTTTATTAACATCATCATCATCATCATCTTCTTAAAATAACATACTAA... | benign | 17,443 |
The chromosome 1, position 169468849 genetic variant in gene SLC19A2 (solute carrier family 19 member 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GTGTTAGTTTGCGGCGGATGATGCCCTAAGCGAAATTTTAATGTGACTATATGGTTTATTAACATCATCATCATCATCATCTTCTTAAAATAACATACTAAATACTTACAAACTGGTTCAAAAGTACAATGAGAGTATGGCCTTAAATCACTGAGCCAGTTTCTTTCAATGTTGGCTACACTTCTGCAGGAAGCCATTAATCAATCATGGCAGTTAGGGTTTCAGCACCACCCATAAAATCCTATTATTCCACGTGTTTAAATCCACCATTTCTATAAGAATCTGCTGACAAATTTCCACTTCCAATGACAGCCATGTTT... | GTGTTAGTTTGCGGCGGATGATGCCCTAAGCGAAATTTTAATGTGACTATATGGTTTATTAACATCATCATCATCATCATCTTCTTAAAATAACATACTAAATACTTACAAACTGGTTCAAAAGTACAATGAGAGTATGGCCTTAAATCACTGAGCCAGTTTCTTTCAATGTTGGCTACACTTCTGCAGGAAGCCATTAATCAATCATGGCAGTTAGGGTTTCAGCACCACCCATAAAATCCTATTATTCCACGTGTTTAAATCCACCATTTCTATAAGAATCTGCTGACAAATTTCCACTTCCAATGACAGCCATGTTT... | benign | 17,450 |
Is the chromosome 1, position 169477202 variant in SLC19A2 (solute carrier family 19 member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness'] | TCTTCAGTATATAAAATACTGACACACTGTGTATCTATAAACAAGTATTTCAAGTTGATCTAGAACAGTTTTTAAAACTATAGGTCATCACCCATAAGTTGGCAATAAAATTGATTTAGAGGACAGTGAACTGAATTTAAAAAAAATAAAAGAATGTATCAGAATAAAACACTGTTGTAAAACTTGTTTCTGTTATATATAAAATATATACATACCTATGTATGTACAGGTTTTCTATGTAAAATGTTTTCTATGTTTCTTACTTATATTCAAAAAAGTTTGAAACTGTCTATAAAAATCTTTAGAACTATGGTCAATAT... | TCTTCAGTATATAAAATACTGACACACTGTGTATCTATAAACAAGTATTTCAAGTTGATCTAGAACAGTTTTTAAAACTATAGGTCATCACCCATAAGTTGGCAATAAAATTGATTTAGAGGACAGTGAACTGAATTTAAAAAAAATAAAAGAATGTATCAGAATAAAACACTGTTGTAAAACTTGTTTCTGTTATATATAAAATATATACATACCTATGTATGTACAGGTTTTCTATGTAAAATGTTTTCTATGTTTCTTACTTATATTCAAAAAAGTTTGAAACTGTCTATAAAAATCTTTAGAACTATGGTCAATAT... | pathogenic | 17,457 |
Determine if the mutation at chromosome 1, position 169477529 in gene SLC19A2 (solute carrier family 19 member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness'] | TCTAAAATATATATTTATACACATATTATCTGTATATACGTTAATTTTAGCTAAAGCCACTGTAACACATTCAAAACAGATAAAGAAGTGTCTTTATTTTTTTTCCACTTCATAAAATCTATGAAATGATTACACACCTCCTTCCCTCCCCCATCAACCCTCTGTTGACTCTCTAATATCACCTAACAAACTATGAAAAAAATCAGCATTTCATTGCCACTTAATCCTTGGTCATTCTGACAAAAAGTGCTCACAGGTGCCCTGGTAATCAAGGTGAGTTTCATGATGAGGGTTGCCCAGGCTCTACAAGTCTACCCAGG... | TCTAAAATATATATTTATACACATATTATCTGTATATACGTTAATTTTAGCTAAAGCCACTGTAACACATTCAAAACAGATAAAGAAGTGTCTTTATTTTTTTTCCACTTCATAAAATCTATGAAATGATTACACACCTCCTTCCCTCCCCCATCAACCCTCTGTTGACTCTCTAATATCACCTAACAAACTATGAAAAAAATCAGCATTTCATTGCCACTTAATCCTTGGTCATTCTGACAAAAAGTGCTCACAGGTGCCCTGGTAATCAAGGTGAGTTTCATGATGAGGGTTGCCCAGGCTCTACAAGTCTACCCAGG... | pathogenic | 17,462 |
Variant on chromosome 1, at position 169477719, affecting SLC19A2 (solute carrier family 19 member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness'] | CTATGAAAAAAATCAGCATTTCATTGCCACTTAATCCTTGGTCATTCTGACAAAAAGTGCTCACAGGTGCCCTGGTAATCAAGGTGAGTTTCATGATGAGGGTTGCCCAGGCTCTACAAGTCTACCCAGGCTCTCTGGGATGATAACCTAAATTTCAAGTAGTAATTTGAGAGCTGAAGAACGGGGATAGAGAAAAGAGAGTAATTTTCAATGAGGACATTAGATGCCACATTTAAACAATTCAGTTAACTCTCAGTAGAGAATGAAAGACTTTACTCATAATGGTTCTTTATTATCAGCCAGCCTACAAAGCTTATGGA... | CTATGAAAAAAATCAGCATTTCATTGCCACTTAATCCTTGGTCATTCTGACAAAAAGTGCTCACAGGTGCCCTGGTAATCAAGGTGAGTTTCATGATGAGGGTTGCCCAGGCTCTACAAGTCTACCCAGGCTCTCTGGGATGATAACCTAAATTTCAAGTAGTAATTTGAGAGCTGAAGAACGGGGATAGAGAAAAGAGAGTAATTTTCAATGAGGACATTAGATGCCACATTTAAACAATTCAGTTAACTCTCAGTAGAGAATGAAAGACTTTACTCATAATGGTTCTTTATTATCAGCCAGCCTACAAAGCTTATGGA... | pathogenic | 17,466 |
The genetic variant at chromosome 1, position 169477770, affecting gene SLC19A2 (solute carrier family 19 member 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | AAAAAGTGCTCACAGGTGCCCTGGTAATCAAGGTGAGTTTCATGATGAGGGTTGCCCAGGCTCTACAAGTCTACCCAGGCTCTCTGGGATGATAACCTAAATTTCAAGTAGTAATTTGAGAGCTGAAGAACGGGGATAGAGAAAAGAGAGTAATTTTCAATGAGGACATTAGATGCCACATTTAAACAATTCAGTTAACTCTCAGTAGAGAATGAAAGACTTTACTCATAATGGTTCTTTATTATCAGCCAGCCTACAAAGCTTATGGAGCTCAGTCCGACTGAGGCCACCTACAAAGCTGGAATGTTAATAGGCTTATT... | AAAAAGTGCTCACAGGTGCCCTGGTAATCAAGGTGAGTTTCATGATGAGGGTTGCCCAGGCTCTACAAGTCTACCCAGGCTCTCTGGGATGATAACCTAAATTTCAAGTAGTAATTTGAGAGCTGAAGAACGGGGATAGAGAAAAGAGAGTAATTTTCAATGAGGACATTAGATGCCACATTTAAACAATTCAGTTAACTCTCAGTAGAGAATGAAAGACTTTACTCATAATGGTTCTTTATTATCAGCCAGCCTACAAAGCTTATGGAGCTCAGTCCGACTGAGGCCACCTACAAAGCTGGAATGTTAATAGGCTTATT... | benign | 17,467 |
Does the variant on chromosome 1 at location 169528060 affecting gene F5 (coagulation factor V) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Budd-Chiari_syndrome', 'Congenital_factor_V_deficiency', 'Ischemic_stroke', 'Pregnancy_loss,_recurrent,_susceptibility_to,_1', 'Thrombophilia_due_to_activated_protein_C_resistance'] | ATGAACCTAAAATAAAAAGAACAACATTACATTTGCAAAAATTAACAAGTAAATATTGTGGTTGATAGTTCTCTAAGAATCCTAAAATTCCTGCTTCACAAGAGGCTTTCAAATAGAATTTAACCATTTTTCTTTAGGTAGGACTGAAAGTATAACAGATAAAAACAAAACAATAACAACACATACACAGAGATAACTAAAAAAAATTTTAAATCACCACCACACCTCACTAGAAGAAACTTTCACTTATCTAAATATAATGTTACAAATTAACTCACATACAATACAGCTTCACAGTCCTAATTATCAAAGTGACCTCG... | ATGAACCTAAAATAAAAAGAACAACATTACATTTGCAAAAATTAACAAGTAAATATTGTGGTTGATAGTTCTCTAAGAATCCTAAAATTCCTGCTTCACAAGAGGCTTTCAAATAGAATTTAACCATTTTTCTTTAGGTAGGACTGAAAGTATAACAGATAAAAACAAAACAATAACAACACATACACAGAGATAACTAAAAAAAATTTTAAATCACCACCACACCTCACTAGAAGAAACTTTCACTTATCTAAATATAATGTTACAAATTAACTCACATACAATACAGCTTCACAGTCCTAATTATCAAAGTGACCTCG... | pathogenic | 17,502 |
A genetic alteration at chromosome 1, position 169529623, in gene F5 (coagulation factor V)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Congenital_factor_V_deficiency'] | GATAGCTGTAGCTGCCTGAGCCCTGTGGGATTCATTTTTTCATCTGCTTAAGACCTCATCTGTATGACACACAGTGGCTTGGGAGAAACTGCATGTTATGTTGCAACTGAGTTGGGTCACACATTTAGCCTGTGTGGTGCTGCAAATAGTTCATAAATTAGGTGACATTTTTGTACTCCGTATATACTTTGGGTCTATGGGTTTGCCTAGGCTCTATGCCAGAACCCTGTGTTCTGACCCCTTAGGAAGTATATGCACAAGGAAGAAATGAGAAGGAGTTACAGATTGCCTTTTCCCTGTATTTCTTAGCAGGGACCTCT... | GATAGCTGTAGCTGCCTGAGCCCTGTGGGATTCATTTTTTCATCTGCTTAAGACCTCATCTGTATGACACACAGTGGCTTGGGAGAAACTGCATGTTATGTTGCAACTGAGTTGGGTCACACATTTAGCCTGTGTGGTGCTGCAAATAGTTCATAAATTAGGTGACATTTTTGTACTCCGTATATACTTTGGGTCTATGGGTTTGCCTAGGCTCTATGCCAGAACCCTGTGTTCTGACCCCTTAGGAAGTATATGCACAAGGAAGAAATGAGAAGGAGTTACAGATTGCCTTTTCCCTGTATTTCTTAGCAGGGACCTCT... | pathogenic | 17,505 |
Clinical significance of chromosome 1, position 169530956, gene F5 (coagulation factor V): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Budd-Chiari_syndrome', 'Congenital_factor_V_deficiency', 'Ischemic_stroke', 'Pregnancy_loss,_recurrent,_susceptibility_to,_1', 'Thrombophilia_due_to_activated_protein_C_resistance'] | TGAGATCATTTGGGCATCCTTCAAATTATATCAGGCGTGAGAACACCTATCTACATATTCATAACACAAGCTCGTACCTTTCTCTTCTCAGTTTCTGTTTCAGTTACTAGCTTACAGGGCAAATTTTCCTTGTGAATTTCCAAATAGGCACACTTTTCCCAGTGTGACCACCCAAATGCTCTCTTGCCACTATTCTCCTATTACCTGGGTACCTAGTTTCTTATCTCATTTTGTTCTCATATGCTTTGGGTGCCACCTGGTAGCTGCTGAGAGCTAAAACTGTTAGCGTCATTCTTATTTTAGAAAAGACACACAGGTGA... | TGAGATCATTTGGGCATCCTTCAAATTATATCAGGCGTGAGAACACCTATCTACATATTCATAACACAAGCTCGTACCTTTCTCTTCTCAGTTTCTGTTTCAGTTACTAGCTTACAGGGCAAATTTTCCTTGTGAATTTCCAAATAGGCACACTTTTCCCAGTGTGACCACCCAAATGCTCTCTTGCCACTATTCTCCTATTACCTGGGTACCTAGTTTCTTATCTCATTTTGTTCTCATATGCTTTGGGTGCCACCTGGTAGCTGCTGAGAGCTAAAACTGTTAGCGTCATTCTTATTTTAGAAAAGACACACAGGTGA... | pathogenic | 17,510 |
Variant at chromosome position 169536502, chromosome 1, gene F5 (coagulation factor V): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Budd-Chiari_syndrome', 'Congenital_factor_V_deficiency', 'Ischemic_stroke', 'Pregnancy_loss,_recurrent,_susceptibility_to,_1', 'Thrombophilia_due_to_activated_protein_C_resistance'] | GGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTTGAGATCATACCTCTGTACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAGAAAGAAAGACAGAAAATACATTGTTCTACTGAAAAGACACATGTACTAGGATGTTCATCACAGCATTATTCACAGTAGCAAAGACATGGAA... | GGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTTGAGATCATACCTCTGTACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAGAAAGAAAGACAGAAAATACATTGTTCTACTGAAAAGACACATGTACTAGGATGTTCATCACAGCATTATTCACAGTAGCAAAGACATGGAA... | pathogenic | 17,514 |
The genetic variant at chromosome 1, position 169541290, affecting gene F5 (coagulation factor V): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Congenital_factor_V_deficiency', 'Pregnancy_loss,_recurrent,_susceptibility_to,_1'] | CTTCTGGTCTACCTCCCCTACTAATCCCATCTTTCCAGACTCTGAGCATAACATGCAAACTCACAGAACACAAGGGAGTGGGTAAAGCAACTCCGAATGCCATAAAAGTGGGTTGTGAGCCTTGAATGGAATACAAGATTTTGAAGGTGGTTCCATCCCTATTCACTCTGGACAGGCCCTGCATCTCACTCCCTCGGGGCCTTGCTTAGAAATACTCAGGTAGCTAGTTGTTCTCATGTGGTATTGAGTGCAACATTTAAATAGGAAGTCATAGGAAAAGGTGTTTTAAACAGAGTTCTAATGTGGAGATGTCAGGCATC... | CTTCTGGTCTACCTCCCCTACTAATCCCATCTTTCCAGACTCTGAGCATAACATGCAAACTCACAGAACACAAGGGAGTGGGTAAAGCAACTCCGAATGCCATAAAAGTGGGTTGTGAGCCTTGAATGGAATACAAGATTTTGAAGGTGGTTCCATCCCTATTCACTCTGGACAGGCCCTGCATCTCACTCCCTCGGGGCCTTGCTTAGAAATACTCAGGTAGCTAGTTGTTCTCATGTGGTATTGAGTGCAACATTTAAATAGGAAGTCATAGGAAAAGGTGTTTTAAACAGAGTTCTAATGTGGAGATGTCAGGCATC... | pathogenic | 17,536 |
Is the genetic variant on chromosome 1, position 169542227, gene F5 (coagulation factor V), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Congenital_factor_V_deficiency', 'Factor_V_deficiency'] | GGAACCACACTGTTCTTAGTATAATTTGCCCACAATTATCCCCCTGAATTGTAGTAGCTACTTTTTTCAGCAGTAATGGAAAAATGAGAATAAAAAAGGAGAAAACTGGCCAAACCTTTGTACAAATTCTGAATAATCCCAGGATATTTCTTCAGCAGCAATGTAATAATTTCTTCTGTTTCCATTGTTGCTGCGGAGGTACCATGCTGCAATGTTGTCAGGATCTCTGGAGGAGTTGATGTTTGTCCTAACATCAGTTTTGTAGGGGTCATCATAGGGCACATAATCAATTTCAGCATAGTCATCTTCACTGCTCTGGA... | GGAACCACACTGTTCTTAGTATAATTTGCCCACAATTATCCCCCTGAATTGTAGTAGCTACTTTTTTCAGCAGTAATGGAAAAATGAGAATAAAAAAGGAGAAAACTGGCCAAACCTTTGTACAAATTCTGAATAATCCCAGGATATTTCTTCAGCAGCAATGTAATAATTTCTTCTGTTTCCATTGTTGCTGCGGAGGTACCATGCTGCAATGTTGTCAGGATCTCTGGAGGAGTTGATGTTTGTCCTAACATCAGTTTTGTAGGGGTCATCATAGGGCACATAATCAATTTCAGCATAGTCATCTTCACTGCTCTGGA... | pathogenic | 17,550 |
Clinically, how would you classify the variant at chromosome 1, position 169542550, gene F5 (coagulation factor V): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_factor_V_deficiency', 'Factor_V_deficiency'] | CTTCCTTTGGAATGATCTCAATGTAATCTGTACCATCTTTACTGAGGCCCACTATAACCAGTGGATTAAATTCCTTTGATAGAAAAGTATCATTGAGAGTAGGAGATGAAGGAGATGGCATCTGACCAAGGTCTGGATAAGGAAAAGACTCATTAAATTCTTGAAGAAGCAATGACTGACTAGATTCAGAAGGGTAGAATATCTGATCAAGGTCTGGAGGAGGTGATATCTGGCTGAGATCCGGGAGAAGGGTGGTGTCACTGATGTCTGGAGAGAGAGTCACCTGGCTGAGGTCTGGGGAAAGGGACATCTGACCAAAG... | CTTCCTTTGGAATGATCTCAATGTAATCTGTACCATCTTTACTGAGGCCCACTATAACCAGTGGATTAAATTCCTTTGATAGAAAAGTATCATTGAGAGTAGGAGATGAAGGAGATGGCATCTGACCAAGGTCTGGATAAGGAAAAGACTCATTAAATTCTTGAAGAAGCAATGACTGACTAGATTCAGAAGGGTAGAATATCTGATCAAGGTCTGGAGGAGGTGATATCTGGCTGAGATCCGGGAGAAGGGTGGTGTCACTGATGTCTGGAGAGAGAGTCACCTGGCTGAGGTCTGGGGAAAGGGACATCTGACCAAAG... | pathogenic | 17,558 |
Is the genetic mutation found on chromosome 1 at position 169543068, within the gene F5 (coagulation factor V), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Budd-Chiari_syndrome', 'Congenital_factor_V_deficiency', 'Ischemic_stroke', 'Pregnancy_loss,_recurrent,_susceptibility_to,_1', 'Thrombophilia_due_to_activated_protein_C_resistance'] | AGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAATGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTCTGACTGAGTTCTGGAGAGAGAGTCATATGGCTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGAGAAAGGTTTGTCTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAGGTCTAA... | AGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAATGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTCTGACTGAGTTCTGGAGAGAGAGTCATATGGCTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGAGAAAGGTTTGTCTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAGGTCTAA... | pathogenic | 17,573 |
Evaluate if the mutation on chromosome 1 at position 169544439 in F5 (coagulation factor V) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Budd-Chiari_syndrome', 'Congenital_factor_V_deficiency', 'Factor_V_deficiency', 'Ischemic_stroke', 'Pregnancy_loss,_recurrent,_susceptibility_to,_1', 'Thrombophilia_due_to_activated_protein_C_resistance'] | GAACCAGTGTCTTGGCTTAGGTGTCTCCCAACTTTATGTGCTAGTAATTTCATCCAGGAGAACCTGTGCTTTGCTGCTTGATCTCTTTCTACCTTGGGTCCCTTATGCTTAGCATGTTCTTGACTTTTGAATTCTCCAGCACCAAGTGAAAGTAGACGTATCCCTGTGACATCTGGCTGTAGAGGATCCTCTATAGGGTCTTCAGAATATGGGCTGGAATGCTCTGCTGTGGAAGAATTGAGAACTGAGTTCTTGCCAATGAGGTGTCTCAGTGGGGAACCAGCTGTGGTGGCTTGTTGGTGAGAAGGGGCTTTCTGAGG... | GAACCAGTGTCTTGGCTTAGGTGTCTCCCAACTTTATGTGCTAGTAATTTCATCCAGGAGAACCTGTGCTTTGCTGCTTGATCTCTTTCTACCTTGGGTCCCTTATGCTTAGCATGTTCTTGACTTTTGAATTCTCCAGCACCAAGTGAAAGTAGACGTATCCCTGTGACATCTGGCTGTAGAGGATCCTCTATAGGGTCTTCAGAATATGGGCTGGAATGCTCTGCTGTGGAAGAATTGAGAACTGAGTTCTTGCCAATGAGGTGTCTCAGTGGGGAACCAGCTGTGGTGGCTTGTTGGTGAGAAGGGGCTTTCTGAGG... | pathogenic | 17,583 |
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