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 |
|---|---|---|---|---|---|
The mutation in gene DYSF (dysferlin) at chromosome 2, position 71668823—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1'] | GTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTT... | GTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTT... | pathogenic | 39,040 |
Variant at chromosome position 71669611, chromosome 2, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGC... | CCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGC... | pathogenic | 39,053 |
Determine whether the variant at chromosome 2, position 71669671, in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAAT... | CAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAAT... | pathogenic | 39,055 |
Does the variant on chromosome 2 at location 71669718 affecting gene DYSF (dysferlin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1'] | TGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTC... | TGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTC... | pathogenic | 39,057 |
Chromosome 2, position 71669723, gene DYSF (dysferlin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | TGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACG... | TGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACG... | pathogenic | 39,059 |
A genetic variant on chromosome 2, position 71674223, affects the gene DYSF (dysferlin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TGGCTCGGCCGAAGGCGGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAA... | TGGCTCGGCCGAAGGCGGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAA... | pathogenic | 39,065 |
Regarding the variant at chromosome 2 and position 71674239, affecting gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCC... | GGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCC... | pathogenic | 39,066 |
Variant in DYSF (dysferlin), chromosome 2, position 71679123—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'DYSF-related_disorder', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ATATACAGTTGAATAAGTGGACAGACAGGTGGAATAATAACCTGATTAATGGATAGATATAGTGCTTAACAAATGGTAGCTATAGAGGAATGTGGATAGTTAGGTCAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCT... | ATATACAGTTGAATAAGTGGACAGACAGGTGGAATAATAACCTGATTAATGGATAGATATAGTGCTTAACAAATGGTAGCTATAGAGGAATGTGGATAGTTAGGTCAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCT... | pathogenic | 39,074 |
Determine whether the variant at chromosome 2, position 71679228, in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCAT... | CAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCAT... | pathogenic | 39,080 |
Is the genetic change at chromosome 2, position 71681032, within gene DYSF (dysferlin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAA... | GCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAA... | pathogenic | 39,083 |
Does the variant on chromosome 2 at location 71681035 affecting gene DYSF (dysferlin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATA... | CTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATA... | pathogenic | 39,084 |
A genetic variant on chromosome 2, position 71681101, affects the gene DYSF (dysferlin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCC... | GCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCC... | pathogenic | 39,086 |
Gene mutation in DYSF (dysferlin) at chromosome 2, position 71686463—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | GTTCAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGG... | GTTCAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGG... | pathogenic | 39,094 |
Evaluate the clinical significance of the mutation at chromosome 2, position 72891411 in gene SPR (sepiapterin reductase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Dopa-responsive_dystonia_due_to_sepiapterin_reductase_deficiency'] | CAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAG... | CAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAG... | pathogenic | 39,137 |
Variant at chromosome position 73385886, chromosome 2, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Alstrom_syndrome'] | GTCTTTTTAGTTGTGTAATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAA... | GTCTTTTTAGTTGTGTAATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAA... | pathogenic | 39,150 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein). What disease(s) is it linked to if pathogenic? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | benign | 39,156 |
A genetic alteration at chromosome 2, position 73385903, in gene ALMS1 (ALMS1 centrosome and basal body associated protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | benign | 39,157 |
Variant at chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | benign | 39,158 |
Mutation at chromosome 2, position 73385903, within ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | benign | 39,159 |
For chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | benign | 39,160 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73385903 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | benign | 39,161 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73385903 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | benign | 39,162 |
Clinical significance of chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACT... | benign | 39,163 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73386016 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTA... | TTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTA... | pathogenic | 39,178 |
Chromosome 2, position 73386144, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alstrom_syndrome'] | TTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGA... | TTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGA... | pathogenic | 39,186 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73408654, gene ALMS1 (ALMS1 centrosome and basal body associated protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Alstrom_syndrome'] | ATCATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCA... | ATCATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCA... | pathogenic | 39,202 |
A mutation at chromosome position 73408656 on chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Alstrom_syndrome'] | CATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAA... | CATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAA... | pathogenic | 39,203 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73408766—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAAT... | CGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAAT... | benign | 39,213 |
Regarding the variant found on chromosome 2 at position 73422963 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alstrom_syndrome'] | CTCAAAAAAGAGGGATGCAAGCCAGTAACAGATATCCACACTTGAGGAAACAAGAAGCAGTTGAAAGCTGTAAGAAAAAGGCATGGCAAGTAAAATACACCACCTTCCCATCACACACACACAGATAATGTTGTACACTTGAGAATCATTAACTCTTCAGCTTTGGCCTGCTCCTTTAGCAAATACATTTGCCTATTTATGTGATTTAACTGTCCAACTCCACCCTGAGATATTCTTAAATATTTAAGGAGATGCTGAAATGCTGCTTGTAACTTACTTGTTACTTACTATTCCTTACTTATACTTAAATAGCTATTTTA... | CTCAAAAAAGAGGGATGCAAGCCAGTAACAGATATCCACACTTGAGGAAACAAGAAGCAGTTGAAAGCTGTAAGAAAAAGGCATGGCAAGTAAAATACACCACCTTCCCATCACACACACACAGATAATGTTGTACACTTGAGAATCATTAACTCTTCAGCTTTGGCCTGCTCCTTTAGCAAATACATTTGCCTATTTATGTGATTTAACTGTCCAACTCCACCCTGAGATATTCTTAAATATTTAAGGAGATGCTGAAATGCTGCTTGTAACTTACTTGTTACTTACTATTCCTTACTTATACTTAAATAGCTATTTTA... | pathogenic | 39,237 |
Is chromosome 2, position 73424412, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACC... | AAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACC... | benign | 39,243 |
The mutation impacting ALMS1 (ALMS1 centrosome and basal body associated protein) on chromosome 2 at position 73424454: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome'] | CAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCT... | CAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCT... | pathogenic | 39,245 |
Does the variant on chromosome 2 at location 73424467 affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | GCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTAT... | GCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTAT... | pathogenic | 39,246 |
Is the genetic variant on chromosome 2, position 73424497, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome', 'Retinitis_pigmentosa'] | TATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCA... | TATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCA... | pathogenic | 39,250 |
Clinical significance of chromosome 2, position 73424670, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy'] | TACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATT... | TACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATT... | pathogenic | 39,261 |
Determine if the mutation at chromosome 2, position 73424754 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | TAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTT... | TAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTT... | pathogenic | 39,266 |
Clinical significance of chromosome 2, position 73424857, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ALMS1-related_disorder', 'Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy'] | TAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGAT... | TAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGAT... | pathogenic | 39,278 |
The mutation impacting ALMS1 (ALMS1 centrosome and basal body associated protein) on chromosome 2 at position 73432289: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCAACGTGCCTGGCCGGTATTACCTACTTTAATAGTTCTATATTTTGAAACTTTAACATAATGAAATTTTTTTGACGTCAAGCTTGTAATAAAAATTTTTCTTTCTGTGTTTGAAAGCTGTAGAAGAAAAACTGCTGTAAACTATAAACACACACTGTCTCTCACAAGTGTCTATATATTATATATGGTCATGCCACATA... | TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCAACGTGCCTGGCCGGTATTACCTACTTTAATAGTTCTATATTTTGAAACTTTAACATAATGAAATTTTTTTGACGTCAAGCTTGTAATAAAAATTTTTCTTTCTGTGTTTGAAAGCTGTAGAAGAAAAACTGCTGTAAACTATAAACACACACTGTCTCTCACAAGTGTCTATATATTATATATGGTCATGCCACATA... | pathogenic | 39,297 |
Evaluate this variant at chromosome 2, position 73448083, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CTTCTGACAGTTTGACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAAC... | CTTCTGACAGTTTGACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAAC... | pathogenic | 39,309 |
The chromosome 2, position 73448097 genetic variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTG... | ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTG... | benign | 39,312 |
Is the genetic variant on chromosome 2, position 73448097, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTG... | ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTG... | benign | 39,313 |
Does the chromosome 2 mutation at position 73448133 within gene ALMS1 (ALMS1 centrosome and basal body associated protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Alstrom_syndrome'] | AATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGT... | AATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGT... | pathogenic | 39,316 |
Is the genetic mutation found on chromosome 2 at position 73448258, within the gene ALMS1 (ALMS1 centrosome and basal body associated protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Hearing_impairment', 'Leukodystrophy', 'Stage_5_chronic_kidney_disease', 'Visual_impairment'] | ACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTT... | ACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTT... | pathogenic | 39,326 |
Variant at chromosome 2, position 73448315, gene ALMS1 (ALMS1 centrosome and basal body associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | TTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAA... | TTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAA... | pathogenic | 39,329 |
Clinical classification of chromosome 2, position 73448466, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | AAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAA... | AAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAA... | pathogenic | 39,340 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73448660 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Alstrom_syndrome'] | TTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAA... | TTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAA... | pathogenic | 39,352 |
Determine if the mutation at chromosome 2, position 73448697 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAAC... | TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAAC... | pathogenic | 39,354 |
Evaluate this variant at chromosome 2, position 73448697, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome'] | TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAAC... | TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAAC... | pathogenic | 39,355 |
A genetic variant at chromosome 2, position 73448747, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTG... | CCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTG... | pathogenic | 39,359 |
Determine whether the variant at chromosome 2, position 73448839, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Alstrom_syndrome'] | CCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTA... | CCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTA... | pathogenic | 39,366 |
Regarding the variant found on chromosome 2 at position 73448966 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alstrom_syndrome'] | CCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAAC... | CCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAAC... | pathogenic | 39,378 |
Regarding the variant at chromosome 2 and position 73449273, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | GCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTG... | GCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTG... | pathogenic | 39,396 |
Is the genetic change at chromosome 2, position 73449435, within gene ALMS1 (ALMS1 centrosome and basal body associated protein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome'] | TTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTA... | TTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTA... | pathogenic | 39,408 |
Assess the variant on chromosome 2, position 73449768, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alstrom_syndrome'] | ATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCA... | ATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCA... | pathogenic | 39,427 |
For chromosome 2, position 73449863, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Alstrom_syndrome'] | TGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATAC... | TGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATAC... | pathogenic | 39,436 |
Regarding the variant found on chromosome 2 at position 73450097 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alstrom_syndrome'] | TCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCAT... | TCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCAT... | pathogenic | 39,449 |
Is the genetic variant on chromosome 2, position 73450213, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTG... | TCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTG... | pathogenic | 39,452 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73450242—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alstrom_syndrome'] | CTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCT... | CTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCT... | pathogenic | 39,455 |
Clinically, how would you classify the variant at chromosome 2, position 73450252, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Alstrom_syndrome'] | ACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCT... | ACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCT... | pathogenic | 39,457 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73450679—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | GCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTC... | GCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTC... | pathogenic | 39,482 |
Evaluate if the mutation on chromosome 2 at position 73450774 in ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | TCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTG... | TCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTG... | pathogenic | 39,495 |
Variant in ALMS1 (ALMS1 centrosome and basal body associated protein), chromosome 2, position 73450815—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Alstrom_syndrome'] | CTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTA... | CTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTA... | pathogenic | 39,498 |
Evaluate if the mutation on chromosome 2 at position 73450873 in ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | AAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGC... | AAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGC... | pathogenic | 39,504 |
Chromosome 2, position 73451340, gene ALMS1 (ALMS1 centrosome and basal body associated protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alstrom_syndrome', 'Intellectual_disability'] | TGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAA... | TGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAA... | pathogenic | 39,529 |
Determine if the mutation at chromosome 2, position 73451436 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | CTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTAC... | CTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTAC... | pathogenic | 39,537 |
The mutation in gene ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73451528—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alstrom_syndrome'] | CCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGC... | CCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGC... | pathogenic | 39,544 |
Assess the variant on chromosome 2, position 73451694, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy'] | CTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAA... | CTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAA... | pathogenic | 39,554 |
Clinical classification of chromosome 2, position 73451700, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | TACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGA... | TACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGA... | pathogenic | 39,556 |
Regarding the variant at chromosome 2 and position 73451724, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | ACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAG... | ACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAG... | pathogenic | 39,559 |
Regarding the variant at chromosome 2 and position 73451800, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alstrom_syndrome'] | AGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGA... | AGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGA... | pathogenic | 39,565 |
Is the genetic variant on chromosome 2, position 73451806, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | AGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGA... | AGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGA... | pathogenic | 39,566 |
Is the genetic variant on chromosome 2, position 73451987, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome'] | ACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAA... | ACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAA... | pathogenic | 39,578 |
Benign or pathogenic: chromosome 2, position 73452426, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | CTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATT... | CTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATT... | pathogenic | 39,599 |
Variant on chromosome 2, at position 73452449, affecting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alstrom_syndrome'] | AAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGG... | AAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGG... | pathogenic | 39,602 |
Variant in ALMS1 (ALMS1 centrosome and basal body associated protein), chromosome 2, position 73452503—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Alstrom_syndrome'] | GCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGA... | GCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGA... | pathogenic | 39,605 |
Chromosome 2, position 73452691, gene ALMS1 (ALMS1 centrosome and basal body associated protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTG... | CACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTG... | pathogenic | 39,612 |
Considering the genetic mutation at chromosome 2, position 73453007, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome'] | TTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGC... | TTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGC... | pathogenic | 39,629 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 73453092, gene ALMS1 (ALMS1 centrosome and basal body associated protein): what disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCA... | CTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCA... | pathogenic | 39,635 |
Does the variant on chromosome 2 at location 73453112 affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | ACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGC... | ACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGC... | pathogenic | 39,636 |
Evaluate this variant at chromosome 2, position 73453295, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome', 'Stickler_syndrome'] | GGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATC... | GGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATC... | pathogenic | 39,644 |
Variant chromosome 2, position 73453360, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s)? | pathogenic; ['Alstrom_syndrome'] | GAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGA... | GAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGA... | pathogenic | 39,647 |
Variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein), located at chromosome 2 position 73453423: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACC... | TTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACC... | pathogenic | 39,651 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73453479—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Alstrom_syndrome'] | GTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTT... | GTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTT... | pathogenic | 39,653 |
The chromosome 2, position 73453653 genetic variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Alstrom_syndrome'] | CTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCA... | CTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCA... | pathogenic | 39,661 |
Is the chromosome 2, position 73453752 variant in ALMS1 (ALMS1 centrosome and basal body associated protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Alstrom_syndrome'] | TGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGA... | TGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGA... | pathogenic | 39,665 |
A mutation at chromosome position 73453759 on chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Alstrom_syndrome'] | CAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTG... | CAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTG... | pathogenic | 39,666 |
Determine whether the variant at chromosome 2, position 73453825, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Alstrom_syndrome'] | GTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACT... | GTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACT... | pathogenic | 39,671 |
Evaluate this variant at chromosome 2, position 73453897, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGC... | AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGC... | pathogenic | 39,673 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73453897—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGC... | AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGC... | pathogenic | 39,674 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73489783—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Alstrom_syndrome'] | TCATCGAGTGGCAGAACAGTTTTCAGGAGACCCAAAGTGGGTAGCTCCTTTCTGCAGGCAGGTCATCCTGATGACTGTCCATCTGTCAGTGGAGAGGAGAACCTAGAGTGGGTAGCTCCTACCTGCATGCAGGTCATCCCATAATCTGCATCTTTCAGCAGAGAAGAGACCCGGAGTGGCTAGCTCCTATCTGCAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTT... | TCATCGAGTGGCAGAACAGTTTTCAGGAGACCCAAAGTGGGTAGCTCCTTTCTGCAGGCAGGTCATCCTGATGACTGTCCATCTGTCAGTGGAGAGGAGAACCTAGAGTGGGTAGCTCCTACCTGCATGCAGGTCATCCCATAATCTGCATCTTTCAGCAGAGAAGAGACCCGGAGTGGCTAGCTCCTATCTGCAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTT... | pathogenic | 39,706 |
Is the variant located on chromosome 2 at position 73490076, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Alstrom_syndrome'] | CCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCA... | CCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCA... | pathogenic | 39,718 |
Assess the variant on chromosome 2, position 73490089, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alstrom_syndrome'] | TATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGAC... | TATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGAC... | pathogenic | 39,719 |
Considering the variant on chromosome 2, location 73490097, involving gene ALMS1 (ALMS1 centrosome and basal body associated protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Alstrom_syndrome'] | CTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTC... | CTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTC... | pathogenic | 39,720 |
The genetic variant at chromosome 2, position 73490106, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | GCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCT... | GCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCT... | pathogenic | 39,722 |
Benign or pathogenic: chromosome 2, position 73490129, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | CATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGG... | CATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGG... | pathogenic | 39,724 |
Regarding the variant at chromosome 2 and position 73490305, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | CTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTC... | CTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTC... | pathogenic | 39,733 |
Is the genetic variant on chromosome 2, position 73490332, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | AGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCA... | AGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCA... | pathogenic | 39,735 |
Determine whether the variant at chromosome 2, position 73490345, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | GGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAG... | GGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAG... | pathogenic | 39,736 |
Does the genetic variant at chromosome 2, position 73490626, impacting gene ALMS1 (ALMS1 centrosome and basal body associated protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | GCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCC... | GCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCC... | pathogenic | 39,754 |
Variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein), located at chromosome 2 position 73490674: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Alstrom_syndrome'] | TTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAG... | TTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAG... | pathogenic | 39,756 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73490709—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alstrom_syndrome'] | CCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTT... | CCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTT... | pathogenic | 39,761 |
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