question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant at chromosome position 197101464, chromosome 1, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TATCTCTTGCAATTGGAATATTCTTCTATACCTTTTACTGGGCTATTTCTAATTCATACTTCAGTGTAACATTTCAACTTAAATGTTACTCACTCTGGGAAGTCTCTGACCATGGAGACTAGCTTGATTTCCCATTCTGTGTTTCCTGAAACATACACTTCTCATGTTGTATTATAATTATACTTCCTTGTTCAATTAAGTTCCTTGAGGACAGCAACTAAGTATATCTTACTCATTGTCTATTTATAACACCCACTACAGCATTTGGCACATTTCTAGCACTTGACATTTCTTGAATTAAAACATTATTTCTAAATTTA... | TATCTCTTGCAATTGGAATATTCTTCTATACCTTTTACTGGGCTATTTCTAATTCATACTTCAGTGTAACATTTCAACTTAAATGTTACTCACTCTGGGAAGTCTCTGACCATGGAGACTAGCTTGATTTCCCATTCTGTGTTTCCTGAAACATACACTTCTCATGTTGTATTATAATTATACTTCCTTGTTCAATTAAGTTCCTTGAGGACAGCAACTAAGTATATCTTACTCATTGTCTATTTATAACACCCACTACAGCATTTGGCACATTTCTAGCACTTGACATTTCTTGAATTAAAACATTATTTCTAAATTTA... | pathogenic | 19,475 |
Is the genetic variant on chromosome 1, position 197101467, gene ASPM (assembly factor for spindle microtubules), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ASPM-related_disorder', 'Inborn_genetic_diseases', 'Microcephaly_1,_primary,_autosomal_recessive', 'Microcephaly_5,_primary,_autosomal_recessive'] | CTCTTGCAATTGGAATATTCTTCTATACCTTTTACTGGGCTATTTCTAATTCATACTTCAGTGTAACATTTCAACTTAAATGTTACTCACTCTGGGAAGTCTCTGACCATGGAGACTAGCTTGATTTCCCATTCTGTGTTTCCTGAAACATACACTTCTCATGTTGTATTATAATTATACTTCCTTGTTCAATTAAGTTCCTTGAGGACAGCAACTAAGTATATCTTACTCATTGTCTATTTATAACACCCACTACAGCATTTGGCACATTTCTAGCACTTGACATTTCTTGAATTAAAACATTATTTCTAAATTTAACA... | CTCTTGCAATTGGAATATTCTTCTATACCTTTTACTGGGCTATTTCTAATTCATACTTCAGTGTAACATTTCAACTTAAATGTTACTCACTCTGGGAAGTCTCTGACCATGGAGACTAGCTTGATTTCCCATTCTGTGTTTCCTGAAACATACACTTCTCATGTTGTATTATAATTATACTTCCTTGTTCAATTAAGTTCCTTGAGGACAGCAACTAAGTATATCTTACTCATTGTCTATTTATAACACCCACTACAGCATTTGGCACATTTCTAGCACTTGACATTTCTTGAATTAAAACATTATTTCTAAATTTAACA... | pathogenic | 19,476 |
Does the genetic variant at chromosome 1, position 197101665, impacting gene ASPM (assembly factor for spindle microtubules), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | TCCTTGAGGACAGCAACTAAGTATATCTTACTCATTGTCTATTTATAACACCCACTACAGCATTTGGCACATTTCTAGCACTTGACATTTCTTGAATTAAAACATTATTTCTAAATTTAACAGTAATCCAGTAAGATATGAACATATCACATCTGGGTTAAAGCCTGGGTTATTGCAGGTAAAAAGAAATAGCTGAAGTACTTAGATTCAGTTCCTGGATCTGCCTCTCTCTATGCAACATTGGCCAAATTACTTAAACTTTATCACTTCCTTCATATTTTAAAAGAGATAATACTGTACATTCCTCACACATTTGGCAA... | TCCTTGAGGACAGCAACTAAGTATATCTTACTCATTGTCTATTTATAACACCCACTACAGCATTTGGCACATTTCTAGCACTTGACATTTCTTGAATTAAAACATTATTTCTAAATTTAACAGTAATCCAGTAAGATATGAACATATCACATCTGGGTTAAAGCCTGGGTTATTGCAGGTAAAAAGAAATAGCTGAAGTACTTAGATTCAGTTCCTGGATCTGCCTCTCTCTATGCAACATTGGCCAAATTACTTAAACTTTATCACTTCCTTCATATTTTAAAAGAGATAATACTGTACATTCCTCACACATTTGGCAA... | pathogenic | 19,484 |
Determine if the mutation at chromosome 1, position 197101755 in gene ASPM (assembly factor for spindle microtubules) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Microcephaly_5,_primary,_autosomal_recessive'] | CTTGAATTAAAACATTATTTCTAAATTTAACAGTAATCCAGTAAGATATGAACATATCACATCTGGGTTAAAGCCTGGGTTATTGCAGGTAAAAAGAAATAGCTGAAGTACTTAGATTCAGTTCCTGGATCTGCCTCTCTCTATGCAACATTGGCCAAATTACTTAAACTTTATCACTTCCTTCATATTTTAAAAGAGATAATACTGTACATTCCTCACACATTTGGCAAATAGACAAAACAAAATAATACAAAATTGATTTGGAAGCCAAAGTACTAAACACTCAGAATAAAGTATGTCTACTAGCCTAAGCAGCAAAC... | CTTGAATTAAAACATTATTTCTAAATTTAACAGTAATCCAGTAAGATATGAACATATCACATCTGGGTTAAAGCCTGGGTTATTGCAGGTAAAAAGAAATAGCTGAAGTACTTAGATTCAGTTCCTGGATCTGCCTCTCTCTATGCAACATTGGCCAAATTACTTAAACTTTATCACTTCCTTCATATTTTAAAAGAGATAATACTGTACATTCCTCACACATTTGGCAAATAGACAAAACAAAATAATACAAAATTGATTTGGAAGCCAAAGTACTAAACACTCAGAATAAAGTATGTCTACTAGCCTAAGCAGCAAAC... | pathogenic | 19,487 |
Variant at chromosome position 197101918, chromosome 1, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TTAAACTTTATCACTTCCTTCATATTTTAAAAGAGATAATACTGTACATTCCTCACACATTTGGCAAATAGACAAAACAAAATAATACAAAATTGATTTGGAAGCCAAAGTACTAAACACTCAGAATAAAGTATGTCTACTAGCCTAAGCAGCAAACAGCTCTGGTTAATAGATTATTAGAGGAACAAAGTTACTCTATTTTGCCTATATTATGCCAAATAATACTTTATCTTAGCTTATATTTTCCACTTAAAGAAATAACTTTGCCAAATACAGGACTCCTATTTTCTCAAAATTCTTCTAAGAGTGCTACAATTAAC... | TTAAACTTTATCACTTCCTTCATATTTTAAAAGAGATAATACTGTACATTCCTCACACATTTGGCAAATAGACAAAACAAAATAATACAAAATTGATTTGGAAGCCAAAGTACTAAACACTCAGAATAAAGTATGTCTACTAGCCTAAGCAGCAAACAGCTCTGGTTAATAGATTATTAGAGGAACAAAGTTACTCTATTTTGCCTATATTATGCCAAATAATACTTTATCTTAGCTTATATTTTCCACTTAAAGAAATAACTTTGCCAAATACAGGACTCCTATTTTCTCAAAATTCTTCTAAGAGTGCTACAATTAAC... | pathogenic | 19,490 |
For chromosome 1, position 197102089, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['ASPM-related_disorder', 'Autosomal_recessive_primary_microcephaly', 'Microcephaly_5,_primary,_autosomal_recessive'] | GATTATTAGAGGAACAAAGTTACTCTATTTTGCCTATATTATGCCAAATAATACTTTATCTTAGCTTATATTTTCCACTTAAAGAAATAACTTTGCCAAATACAGGACTCCTATTTTCTCAAAATTCTTCTAAGAGTGCTACAATTAACCCATACTGAAATGCACCACACATAGGGTGACCATGGCCAGAACAATCCCCGTTCTGTGCTGTCTTGGCTGACTTACTAGTGCCCTTTCCCTCTTTCAAAAATGTTCCACTTTGGAAGATAAATGGTCACCTCAACTAAGTACTATTCTTTATGACCTGCTTAAGCTCATTT... | GATTATTAGAGGAACAAAGTTACTCTATTTTGCCTATATTATGCCAAATAATACTTTATCTTAGCTTATATTTTCCACTTAAAGAAATAACTTTGCCAAATACAGGACTCCTATTTTCTCAAAATTCTTCTAAGAGTGCTACAATTAACCCATACTGAAATGCACCACACATAGGGTGACCATGGCCAGAACAATCCCCGTTCTGTGCTGTCTTGGCTGACTTACTAGTGCCCTTTCCCTCTTTCAAAAATGTTCCACTTTGGAAGATAAATGGTCACCTCAACTAAGTACTATTCTTTATGACCTGCTTAAGCTCATTT... | pathogenic | 19,492 |
Variant in ASPM (assembly factor for spindle microtubules), chromosome 1, position 197102122—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | CTATATTATGCCAAATAATACTTTATCTTAGCTTATATTTTCCACTTAAAGAAATAACTTTGCCAAATACAGGACTCCTATTTTCTCAAAATTCTTCTAAGAGTGCTACAATTAACCCATACTGAAATGCACCACACATAGGGTGACCATGGCCAGAACAATCCCCGTTCTGTGCTGTCTTGGCTGACTTACTAGTGCCCTTTCCCTCTTTCAAAAATGTTCCACTTTGGAAGATAAATGGTCACCTCAACTAAGTACTATTCTTTATGACCTGCTTAAGCTCATTTTATACATTCTAACAAATATTGGTCAAAAGAAAG... | CTATATTATGCCAAATAATACTTTATCTTAGCTTATATTTTCCACTTAAAGAAATAACTTTGCCAAATACAGGACTCCTATTTTCTCAAAATTCTTCTAAGAGTGCTACAATTAACCCATACTGAAATGCACCACACATAGGGTGACCATGGCCAGAACAATCCCCGTTCTGTGCTGTCTTGGCTGACTTACTAGTGCCCTTTCCCTCTTTCAAAAATGTTCCACTTTGGAAGATAAATGGTCACCTCAACTAAGTACTATTCTTTATGACCTGCTTAAGCTCATTTTATACATTCTAACAAATATTGGTCAAAAGAAAG... | pathogenic | 19,493 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 197102331, gene ASPM (assembly factor for spindle microtubules): what disease(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TTCAAAAATGTTCCACTTTGGAAGATAAATGGTCACCTCAACTAAGTACTATTCTTTATGACCTGCTTAAGCTCATTTTATACATTCTAACAAATATTGGTCAAAAGAAAGACTCACAGTTTTATATTTAAATTAAATATAGAAATACCTGAATTTTTATGGTGCTATTTTTAATTTCCTGAAACTTCCGTTTCTGTATAAATCCTTTACTTCTAGCTTGAATAATGATAACACTGCTTCTGATCTGTAAATAGACTTGTCTTTGATGTTTTGCAGACAGAAATGCTCTGTAGTGATTTTGTAAAACCACTGCTGCTTTT... | TTCAAAAATGTTCCACTTTGGAAGATAAATGGTCACCTCAACTAAGTACTATTCTTTATGACCTGCTTAAGCTCATTTTATACATTCTAACAAATATTGGTCAAAAGAAAGACTCACAGTTTTATATTTAAATTAAATATAGAAATACCTGAATTTTTATGGTGCTATTTTTAATTTCCTGAAACTTCCGTTTCTGTATAAATCCTTTACTTCTAGCTTGAATAATGATAACACTGCTTCTGATCTGTAAATAGACTTGTCTTTGATGTTTTGCAGACAGAAATGCTCTGTAGTGATTTTGTAAAACCACTGCTGCTTTT... | pathogenic | 19,497 |
Evaluate if the mutation on chromosome 1 at position 197102395 in ASPM (assembly factor for spindle microtubules) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | GCTTAAGCTCATTTTATACATTCTAACAAATATTGGTCAAAAGAAAGACTCACAGTTTTATATTTAAATTAAATATAGAAATACCTGAATTTTTATGGTGCTATTTTTAATTTCCTGAAACTTCCGTTTCTGTATAAATCCTTTACTTCTAGCTTGAATAATGATAACACTGCTTCTGATCTGTAAATAGACTTGTCTTTGATGTTTTGCAGACAGAAATGCTCTGTAGTGATTTTGTAAAACCACTGCTGCTTTTCTATATAGTAAAAACTGTTTTCTGGTTTGCCACGTCCTAAAATAATGCTGTAAAGTGATAGCAG... | GCTTAAGCTCATTTTATACATTCTAACAAATATTGGTCAAAAGAAAGACTCACAGTTTTATATTTAAATTAAATATAGAAATACCTGAATTTTTATGGTGCTATTTTTAATTTCCTGAAACTTCCGTTTCTGTATAAATCCTTTACTTCTAGCTTGAATAATGATAACACTGCTTCTGATCTGTAAATAGACTTGTCTTTGATGTTTTGCAGACAGAAATGCTCTGTAGTGATTTTGTAAAACCACTGCTGCTTTTCTATATAGTAAAAACTGTTTTCTGGTTTGCCACGTCCTAAAATAATGCTGTAAAGTGATAGCAG... | pathogenic | 19,499 |
A genetic variant on chromosome 1, position 197102561, affects the gene ASPM (assembly factor for spindle microtubules). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | ACACTGCTTCTGATCTGTAAATAGACTTGTCTTTGATGTTTTGCAGACAGAAATGCTCTGTAGTGATTTTGTAAAACCACTGCTGCTTTTCTATATAGTAAAAACTGTTTTCTGGTTTGCCACGTCCTAAAATAATGCTGTAAAGTGATAGCAGCTCTTTTCTGCTGAACAAATCTTCTCCGATACACAGCCATCTGAAGGAAGAACTGAATCCGTAGGGCAGCACATTTCTGTGTTTCCAGTTTTCTTGTGACCATTCTACAAAAAGCTTTTTGAATTGTTACTGCAGCCCTACTTTGAGAATGATACTCTGCTTCCTG... | ACACTGCTTCTGATCTGTAAATAGACTTGTCTTTGATGTTTTGCAGACAGAAATGCTCTGTAGTGATTTTGTAAAACCACTGCTGCTTTTCTATATAGTAAAAACTGTTTTCTGGTTTGCCACGTCCTAAAATAATGCTGTAAAGTGATAGCAGCTCTTTTCTGCTGAACAAATCTTCTCCGATACACAGCCATCTGAAGGAAGAACTGAATCCGTAGGGCAGCACATTTCTGTGTTTCCAGTTTTCTTGTGACCATTCTACAAAAAGCTTTTTGAATTGTTACTGCAGCCCTACTTTGAGAATGATACTCTGCTTCCTG... | pathogenic | 19,502 |
Is the genetic change at chromosome 1, position 197102608, within gene ASPM (assembly factor for spindle microtubules) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | CAGAAATGCTCTGTAGTGATTTTGTAAAACCACTGCTGCTTTTCTATATAGTAAAAACTGTTTTCTGGTTTGCCACGTCCTAAAATAATGCTGTAAAGTGATAGCAGCTCTTTTCTGCTGAACAAATCTTCTCCGATACACAGCCATCTGAAGGAAGAACTGAATCCGTAGGGCAGCACATTTCTGTGTTTCCAGTTTTCTTGTGACCATTCTACAAAAAGCTTTTTGAATTGTTACTGCAGCCCTACTTTGAGAATGATACTCTGCTTCCTGTGAACAAGCAAGGCCAGAAGCTTTATACCACTCTTGAATCATAACAC... | CAGAAATGCTCTGTAGTGATTTTGTAAAACCACTGCTGCTTTTCTATATAGTAAAAACTGTTTTCTGGTTTGCCACGTCCTAAAATAATGCTGTAAAGTGATAGCAGCTCTTTTCTGCTGAACAAATCTTCTCCGATACACAGCCATCTGAAGGAAGAACTGAATCCGTAGGGCAGCACATTTCTGTGTTTCCAGTTTTCTTGTGACCATTCTACAAAAAGCTTTTTGAATTGTTACTGCAGCCCTACTTTGAGAATGATACTCTGCTTCCTGTGAACAAGCAAGGCCAGAAGCTTTATACCACTCTTGAATCATAACAC... | pathogenic | 19,503 |
Evaluate this variant at chromosome 1, position 197102702, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | AAAGTGATAGCAGCTCTTTTCTGCTGAACAAATCTTCTCCGATACACAGCCATCTGAAGGAAGAACTGAATCCGTAGGGCAGCACATTTCTGTGTTTCCAGTTTTCTTGTGACCATTCTACAAAAAGCTTTTTGAATTGTTACTGCAGCCCTACTTTGAGAATGATACTCTGCTTCCTGTGAACAAGCAAGGCCAGAAGCTTTATACCACTCTTGAATCATAACACCTTCACTTTGAACAGCTTCATACTGAGTTTTACTTCTGTAACAGCAGAGTGCAGATTGGTTAACAATGGCTGCCATCTTTTCCTCTGATACATT... | AAAGTGATAGCAGCTCTTTTCTGCTGAACAAATCTTCTCCGATACACAGCCATCTGAAGGAAGAACTGAATCCGTAGGGCAGCACATTTCTGTGTTTCCAGTTTTCTTGTGACCATTCTACAAAAAGCTTTTTGAATTGTTACTGCAGCCCTACTTTGAGAATGATACTCTGCTTCCTGTGAACAAGCAAGGCCAGAAGCTTTATACCACTCTTGAATCATAACACCTTCACTTTGAACAGCTTCATACTGAGTTTTACTTCTGTAACAGCAGAGTGCAGATTGGTTAACAATGGCTGCCATCTTTTCCTCTGATACATT... | pathogenic | 19,505 |
Clinically, how would you classify the variant at chromosome 1, position 197102912, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TCTTGAATCATAACACCTTCACTTTGAACAGCTTCATACTGAGTTTTACTTCTGTAACAGCAGAGTGCAGATTGGTTAACAATGGCTGCCATCTTTTCCTCTGATACATTTTTCAATTTTTGTCTAACTTTCATGCCTCTAAAAGCAGCCTGAATAGTTCGTACAGATTTCTGAACTGCTAAAAAGTTTTTTCTTTCTGTTTTTACTCTAACATACAACCTATAATAATTCTGTATAACCACAATTGCAGTTTTCTTTGTTTCATAATCAACTTTGGCCCTGTGCATTCGATAGAATGACTGAATTAGTGTGGCAGCCCG... | TCTTGAATCATAACACCTTCACTTTGAACAGCTTCATACTGAGTTTTACTTCTGTAACAGCAGAGTGCAGATTGGTTAACAATGGCTGCCATCTTTTCCTCTGATACATTTTTCAATTTTTGTCTAACTTTCATGCCTCTAAAAGCAGCCTGAATAGTTCGTACAGATTTCTGAACTGCTAAAAAGTTTTTTCTTTCTGTTTTTACTCTAACATACAACCTATAATAATTCTGTATAACCACAATTGCAGTTTTCTTTGTTTCATAATCAACTTTGGCCCTGTGCATTCGATAGAATGACTGAATTAGTGTGGCAGCCCG... | pathogenic | 19,507 |
Does the chromosome 1 mutation at position 197103234 within gene ASPM (assembly factor for spindle microtubules) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | GCATATTTTGAATATCCTTTCGTACTTTAAAGCCTCTGTAATAAGACTGTATACAAATAACTGCTTGGGTACGCACTGCAGTTAGTTTTCTGTATCTTCTTTGAATAGAAACTACTGTTGCTCTAAGGTGGAGATAATGCTTCCTTATTTTAAAGGCTTTACAATGCTTCTGAATAATAATGGCAGCCTGGTGCTGTTCCTGAATCTGTTTTTTTATGTTCATGTCCTGAAAACCTGCCTGAACACAAGTCTCTTTCTTAAGTTCATTGTGTTGAAATACTTTCTGTTTCTTTTTATTTGCTCTATATTTTTCTTGTATG... | GCATATTTTGAATATCCTTTCGTACTTTAAAGCCTCTGTAATAAGACTGTATACAAATAACTGCTTGGGTACGCACTGCAGTTAGTTTTCTGTATCTTCTTTGAATAGAAACTACTGTTGCTCTAAGGTGGAGATAATGCTTCCTTATTTTAAAGGCTTTACAATGCTTCTGAATAATAATGGCAGCCTGGTGCTGTTCCTGAATCTGTTTTTTTATGTTCATGTCCTGAAAACCTGCCTGAACACAAGTCTCTTTCTTAAGTTCATTGTGTTGAAATACTTTCTGTTTCTTTTTATTTGCTCTATATTTTTCTTGTATG... | pathogenic | 19,510 |
A genetic alteration at chromosome 1, position 197103565, in gene ASPM (assembly factor for spindle microtubules)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | CCACTGAAGCTTTTGGTAGAAACAATACTGCCTATACATTCTGTAGGTGCTTTGTATTACGATAGAAGCTTTGTGTTTTTCCCTTAAAAGTTGTCTTGCTTTCATTCCTTTATATGCAGCCTGAATAACCACAGCAGAATGCCATTGTCTGATATAATTTTCTCTTTGTAATTTTGCAGCTCTATATGTTCGATAATGTTGCTGAATTAGAATTGAAGCATGTTTCCAAGTCTGAAATGTAATATATGTTCTGTACATCCTGAAAGTAGCCTGAATGAGAACTGCAGCCCTTTGCATTTCTTGTAACTTCTTCTTTACCA... | CCACTGAAGCTTTTGGTAGAAACAATACTGCCTATACATTCTGTAGGTGCTTTGTATTACGATAGAAGCTTTGTGTTTTTCCCTTAAAAGTTGTCTTGCTTTCATTCCTTTATATGCAGCCTGAATAACCACAGCAGAATGCCATTGTCTGATATAATTTTCTCTTTGTAATTTTGCAGCTCTATATGTTCGATAATGTTGCTGAATTAGAATTGAAGCATGTTTCCAAGTCTGAAATGTAATATATGTTCTGTACATCCTGAAAGTAGCCTGAATGAGAACTGCAGCCCTTTGCATTTCTTGTAACTTCTTCTTTACCA... | pathogenic | 19,514 |
Variant at chromosome position 197103659, chromosome 1, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | CTTGCTTTCATTCCTTTATATGCAGCCTGAATAACCACAGCAGAATGCCATTGTCTGATATAATTTTCTCTTTGTAATTTTGCAGCTCTATATGTTCGATAATGTTGCTGAATTAGAATTGAAGCATGTTTCCAAGTCTGAAATGTAATATATGTTCTGTACATCCTGAAAGTAGCCTGAATGAGAACTGCAGCCCTTTGCATTTCTTGTAACTTCTTCTTTACCATCAGTCTTCTGTAAGATGACTGTATTGTAATGGCTGCCTTTCTTAAGTGCAAGAATTGGTACAATTTATGTTTGGCACAAATGGTGGCTCGATA... | CTTGCTTTCATTCCTTTATATGCAGCCTGAATAACCACAGCAGAATGCCATTGTCTGATATAATTTTCTCTTTGTAATTTTGCAGCTCTATATGTTCGATAATGTTGCTGAATTAGAATTGAAGCATGTTTCCAAGTCTGAAATGTAATATATGTTCTGTACATCCTGAAAGTAGCCTGAATGAGAACTGCAGCCCTTTGCATTTCTTGTAACTTCTTCTTTACCATCAGTCTTCTGTAAGATGACTGTATTGTAATGGCTGCCTTTCTTAAGTGCAAGAATTGGTACAATTTATGTTTGGCACAAATGGTGGCTCGATA... | pathogenic | 19,516 |
The mutation impacting ASPM (assembly factor for spindle microtubules) on chromosome 1 at position 197103745: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | TCTATATGTTCGATAATGTTGCTGAATTAGAATTGAAGCATGTTTCCAAGTCTGAAATGTAATATATGTTCTGTACATCCTGAAAGTAGCCTGAATGAGAACTGCAGCCCTTTGCATTTCTTGTAACTTCTTCTTTACCATCAGTCTTCTGTAAGATGACTGTATTGTAATGGCTGCCTTTCTTAAGTGCAAGAATTGGTACAATTTATGTTTGGCACAAATGGTGGCTCGATATTTCCTCTGAACAAAAATAGTAGCTTTTTTGAGGGAAATGAATCTTCTCCTCACCAGTAATGATCTAAACCTACTCTGAATAAGGG... | TCTATATGTTCGATAATGTTGCTGAATTAGAATTGAAGCATGTTTCCAAGTCTGAAATGTAATATATGTTCTGTACATCCTGAAAGTAGCCTGAATGAGAACTGCAGCCCTTTGCATTTCTTGTAACTTCTTCTTTACCATCAGTCTTCTGTAAGATGACTGTATTGTAATGGCTGCCTTTCTTAAGTGCAAGAATTGGTACAATTTATGTTTGGCACAAATGGTGGCTCGATATTTCCTCTGAACAAAAATAGTAGCTTTTTTGAGGGAAATGAATCTTCTCCTCACCAGTAATGATCTAAACCTACTCTGAATAAGGG... | pathogenic | 19,520 |
Considering the genetic mutation at chromosome 1, position 197103825, impacting ASPM (assembly factor for spindle microtubules): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | TGAAAGTAGCCTGAATGAGAACTGCAGCCCTTTGCATTTCTTGTAACTTCTTCTTTACCATCAGTCTTCTGTAAGATGACTGTATTGTAATGGCTGCCTTTCTTAAGTGCAAGAATTGGTACAATTTATGTTTGGCACAAATGGTGGCTCGATATTTCCTCTGAACAAAAATAGTAGCTTTTTTGAGGGAAATGAATCTTCTCCTCACCAGTAATGATCTAAACCTACTCTGAATAAGGGTTGCAGAGGAATGCATACTCTTCAAATGTCTTCTAGTTTTCATACCCCTGAATGCAGCCTGAAGGATCACAGCAGAGTGT... | TGAAAGTAGCCTGAATGAGAACTGCAGCCCTTTGCATTTCTTGTAACTTCTTCTTTACCATCAGTCTTCTGTAAGATGACTGTATTGTAATGGCTGCCTTTCTTAAGTGCAAGAATTGGTACAATTTATGTTTGGCACAAATGGTGGCTCGATATTTCCTCTGAACAAAAATAGTAGCTTTTTTGAGGGAAATGAATCTTCTCCTCACCAGTAATGATCTAAACCTACTCTGAATAAGGGTTGCAGAGGAATGCATACTCTTCAAATGTCTTCTAGTTTTCATACCCCTGAATGCAGCCTGAAGGATCACAGCAGAGTGT... | pathogenic | 19,521 |
A genetic alteration at chromosome 1, position 197104521, in gene ASPM (assembly factor for spindle microtubules)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TTAAATGTCTTCTAGCTTTCTTTCCCCTAAAAATAGCCTGAATGTATATTACAGAATGCCTCAGTTTGTTATACCTTTGAAATTGTATGTTTCTTTCTTTCATTGCCCAGTATCTTTGCTGTACTGTTTTTGTTATTTTCTTTAACTTATTAAAGTATGTTTGCTGTCTGTATCTTCTGTAGTTTGACTGAATGAGTGTTGCTGCAGTCTGCATCTTTCTAAGAGTCCGTCTAACTCTTACTCCTCTAAAACTTGCCTGAAGGACTTTAACAGCTTTCAAAATTGTCAGGTACTTTTCACGCTGCATTTTACCTTGATAA... | TTAAATGTCTTCTAGCTTTCTTTCCCCTAAAAATAGCCTGAATGTATATTACAGAATGCCTCAGTTTGTTATACCTTTGAAATTGTATGTTTCTTTCTTTCATTGCCCAGTATCTTTGCTGTACTGTTTTTGTTATTTTCTTTAACTTATTAAAGTATGTTTGCTGTCTGTATCTTCTGTAGTTTGACTGAATGAGTGTTGCTGCAGTCTGCATCTTTCTAAGAGTCCGTCTAACTCTTACTCCTCTAAAACTTGCCTGAAGGACTTTAACAGCTTTCAAAATTGTCAGGTACTTTTCACGCTGCATTTTACCTTGATAA... | pathogenic | 19,534 |
The genetic variant at chromosome 1, position 197117893, affecting gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TTAGCATAATTCTTAAGGGTCCTAGGATTTTCAGAAGGATAAATAAGCACTGGCTTCAACTTAAAGTCACCAGTTGCATTAGCCCCTAATAAGAGAGTAAAACTCTCCTTTGAATCTTTGAAGCTAGAAATTGATTTCCCCTTTCTAGATGCAAAAGTCCTAGATGGCATCTTCTTTTAATAGAAGTCTGTTTTGTCTAGATTGAAAACTTTTGTTTAGTGTAGCCACTTTTATTAATGATCTTAGCTAGATCTTCTGGATAACTTACTGCAGCTTCTACATCAGCACTTGCTGCTTTATCTTGCACTTTTATGTTATGG... | TTAGCATAATTCTTAAGGGTCCTAGGATTTTCAGAAGGATAAATAAGCACTGGCTTCAACTTAAAGTCACCAGTTGCATTAGCCCCTAATAAGAGAGTAAAACTCTCCTTTGAATCTTTGAAGCTAGAAATTGATTTCCCCTTTCTAGATGCAAAAGTCCTAGATGGCATCTTCTTTTAATAGAAGTCTGTTTTGTCTAGATTGAAAACTTTTGTTTAGTGTAGCCACTTTTATTAATGATCTTAGCTAGATCTTCTGGATAACTTACTGCAGCTTCTACATCAGCACTTGCTGCTTTATCTTGCACTTTTATGTTATGG... | pathogenic | 19,544 |
Evaluate if the mutation on chromosome 1 at position 197117907 in ASPM (assembly factor for spindle microtubules) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | AAGGGTCCTAGGATTTTCAGAAGGATAAATAAGCACTGGCTTCAACTTAAAGTCACCAGTTGCATTAGCCCCTAATAAGAGAGTAAAACTCTCCTTTGAATCTTTGAAGCTAGAAATTGATTTCCCCTTTCTAGATGCAAAAGTCCTAGATGGCATCTTCTTTTAATAGAAGTCTGTTTTGTCTAGATTGAAAACTTTTGTTTAGTGTAGCCACTTTTATTAATGATCTTAGCTAGATCTTCTGGATAACTTACTGCAGCTTCTACATCAGCACTTGCTGCTTTATCTTGCACTTTTATGTTATGGGAACAGCTTATTTC... | AAGGGTCCTAGGATTTTCAGAAGGATAAATAAGCACTGGCTTCAACTTAAAGTCACCAGTTGCATTAGCCCCTAATAAGAGAGTAAAACTCTCCTTTGAATCTTTGAAGCTAGAAATTGATTTCCCCTTTCTAGATGCAAAAGTCCTAGATGGCATCTTCTTTTAATAGAAGTCTGTTTTGTCTAGATTGAAAACTTTTGTTTAGTGTAGCCACTTTTATTAATGATCTTAGCTAGATCTTCTGGATAACTTACTGCAGCTTCTACATCAGCACTTGCTGCTTTATCTTGCACTTTTATGTTATGGGAACAGCTTATTTC... | pathogenic | 19,546 |
The genetic variant at chromosome 1, position 197121930, affecting gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Microcephaly_5,_primary,_autosomal_recessive'] | ATTATAACATAAAAGCAAAATATAAAACCTGAAAAATAGCTATCTCAAGTTAATATGTTTAGTAGCTTGCAATAACATAGGGAGCCTGCTGCTTAATGTTCTAAATAGAAAACGGAAAGATATAATTGGATGTGAGGTAATTGTATAAAAGAGGGAGTATGGTCACCAAGAAAAAGGAGAGAAACAGTGGTCTGACTGGGTCCAAGAAGTTTAACCATAAGTATAGAAACTTCTCTTAATTCTTCAAAAAAACTTCTCTTAATCCTTCAAAAAAATGGAAACTTCTATTTGCATTAAGGAAATAAATCAAGAAAAGGGAT... | ATTATAACATAAAAGCAAAATATAAAACCTGAAAAATAGCTATCTCAAGTTAATATGTTTAGTAGCTTGCAATAACATAGGGAGCCTGCTGCTTAATGTTCTAAATAGAAAACGGAAAGATATAATTGGATGTGAGGTAATTGTATAAAAGAGGGAGTATGGTCACCAAGAAAAAGGAGAGAAACAGTGGTCTGACTGGGTCCAAGAAGTTTAACCATAAGTATAGAAACTTCTCTTAATTCTTCAAAAAAACTTCTCTTAATCCTTCAAAAAAATGGAAACTTCTATTTGCATTAAGGAAATAAATCAAGAAAAGGGAT... | pathogenic | 19,549 |
The mutation impacting ASPM (assembly factor for spindle microtubules) on chromosome 1 at position 197122045: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAAGATATAATTGGATGTGAGGTAATTGTATAAAAGAGGGAGTATGGTCACCAAGAAAAAGGAGAGAAACAGTGGTCTGACTGGGTCCAAGAAGTTTAACCATAAGTATAGAAACTTCTCTTAATTCTTCAAAAAAACTTCTCTTAATCCTTCAAAAAAATGGAAACTTCTATTTGCATTAAGGAAATAAATCAAGAAAAGGGATCTCACTAGCAAAAAGCTGAGAAAATTCTACAGTTAATATCAGACTAAGGCTGGGTGCAGTGGCTCATGCATATAATCCCAGCACTGTGGGAGACAGAGTCAGGCAGATCACTTGA... | AAAGATATAATTGGATGTGAGGTAATTGTATAAAAGAGGGAGTATGGTCACCAAGAAAAAGGAGAGAAACAGTGGTCTGACTGGGTCCAAGAAGTTTAACCATAAGTATAGAAACTTCTCTTAATTCTTCAAAAAAACTTCTCTTAATCCTTCAAAAAAATGGAAACTTCTATTTGCATTAAGGAAATAAATCAAGAAAAGGGATCTCACTAGCAAAAAGCTGAGAAAATTCTACAGTTAATATCAGACTAAGGCTGGGTGCAGTGGCTCATGCATATAATCCCAGCACTGTGGGAGACAGAGTCAGGCAGATCACTTGA... | benign | 19,553 |
Does the chromosome 1 mutation at position 197122478 within gene ASPM (assembly factor for spindle microtubules) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TGAGGCACAAGAATGGCTTGAACCCAAGAGACAAAATCTGAAGTGAGCCAAGATCGTGCTATTGCACTCCTGCCTGGGTGACAGAGTGAGACCTTGTCTCCAAAAGAAAAAAAAAATCTGATTAATACAAGGCTATCTTGAGCAGAAAATAAAAGCAGAATACATATATATCTATCTCTTGTAATTCTAAAACTCTCATTTAATGCAATATACAATGGGTGAATCAAATAGCTTGAGGACTGGCCAGGGGAGACACTTTTCTGAACTCTTCCAATTCCCCTAGAAGTATTGGAAGCTTCTAGGGGAATTGCTTTAGGAAA... | TGAGGCACAAGAATGGCTTGAACCCAAGAGACAAAATCTGAAGTGAGCCAAGATCGTGCTATTGCACTCCTGCCTGGGTGACAGAGTGAGACCTTGTCTCCAAAAGAAAAAAAAAATCTGATTAATACAAGGCTATCTTGAGCAGAAAATAAAAGCAGAATACATATATATCTATCTCTTGTAATTCTAAAACTCTCATTTAATGCAATATACAATGGGTGAATCAAATAGCTTGAGGACTGGCCAGGGGAGACACTTTTCTGAACTCTTCCAATTCCCCTAGAAGTATTGGAAGCTTCTAGGGGAATTGCTTTAGGAAA... | pathogenic | 19,558 |
Evaluate if the mutation on chromosome 1 at position 197124214 in ASPM (assembly factor for spindle microtubules) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TCTGGAATTGTATTTGACATATCTGAATGATTAATCATAGCAGGTATTCCACCAAGGTCTCTAACTGCAGACCTAACCAAGTGAAAATTTTTCTTTTCATTTTCTAGGAGCTCTTTGTATAGCTCTGAAGTATTTTCTATTATGCAGGAGGAAAGGAGAAATTAGCCGTAGCTTCAAATCAGACATGGCAAAAAATTGGAAAAGTAACCAAAAGGGACTAACCATGATCAAATGCTTTAAGAGACATATCCAGAGAACTGTCATCAGATTCAGATGATGAATTTAATACCACTGAACCAGTTTGCGTACATTCCACAGTT... | TCTGGAATTGTATTTGACATATCTGAATGATTAATCATAGCAGGTATTCCACCAAGGTCTCTAACTGCAGACCTAACCAAGTGAAAATTTTTCTTTTCATTTTCTAGGAGCTCTTTGTATAGCTCTGAAGTATTTTCTATTATGCAGGAGGAAAGGAGAAATTAGCCGTAGCTTCAAATCAGACATGGCAAAAAATTGGAAAAGTAACCAAAAGGGACTAACCATGATCAAATGCTTTAAGAGACATATCCAGAGAACTGTCATCAGATTCAGATGATGAATTTAATACCACTGAACCAGTTTGCGTACATTCCACAGTT... | pathogenic | 19,561 |
Mutation found at chromosome 1 position 197135254, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACATATATCAACATCATGTTGTATACCTTAAATATATGCCAGTTTTACCTGTCAATTATATGTCAATAAAGCCGGGGGAAAAAAACACAAAATCTCTTGAATGTTTTTAAAGAATTAATGTCAAGATTTCTGCAGTCTTCTTACCCACATCTTTCCATAGGTGTCTATCTTTTCGAACAATTAACCGCCTAGCTTCAATTTCAATTTCAAGCTTTTTAATAGCTTTAACCATTTTTTCAGAAGTAAACAAACGGCATGCTGCACGACGTAGTCTGTTTAACCTACACCGAGCAGTATAAGCTCTGAGAGACATTTCCTCT... | ACATATATCAACATCATGTTGTATACCTTAAATATATGCCAGTTTTACCTGTCAATTATATGTCAATAAAGCCGGGGGAAAAAAACACAAAATCTCTTGAATGTTTTTAAAGAATTAATGTCAAGATTTCTGCAGTCTTCTTACCCACATCTTTCCATAGGTGTCTATCTTTTCGAACAATTAACCGCCTAGCTTCAATTTCAATTTCAAGCTTTTTAATAGCTTTAACCATTTTTTCAGAAGTAAACAAACGGCATGCTGCACGACGTAGTCTGTTTAACCTACACCGAGCAGTATAAGCTCTGAGAGACATTTCCTCT... | benign | 19,590 |
Is the genetic variant on chromosome 1, position 197139830, gene ASPM (assembly factor for spindle microtubules), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Abnormality_of_the_nervous_system', 'Microcephaly_5,_primary,_autosomal_recessive'] | TATTTTTACAACTTTGATAACTTTAGCGTATACCCCAAATCTGTAAGACATAATATTATCATTCAAATGCAACTCATGGCTTCTCATTGTACTCTGATTTTCTCTAGCTTTTGAATTCTTTATTCTAATATCAGTTTTAAGTCTGACATAAAAGCATGAGAGTTCTAATCAAAATCCAATCTTTTATCATAATAAAAACTATCAAGAAATTATTAGAATTTAAAAAGGAAAATAGGCCTATTAATTAGATTTGTATAACATAATATTTTATGCCTATGAGTCCCCAACAAAGCCTCAAGCTTCTATTTAGATATAAAATG... | TATTTTTACAACTTTGATAACTTTAGCGTATACCCCAAATCTGTAAGACATAATATTATCATTCAAATGCAACTCATGGCTTCTCATTGTACTCTGATTTTCTCTAGCTTTTGAATTCTTTATTCTAATATCAGTTTTAAGTCTGACATAAAAGCATGAGAGTTCTAATCAAAATCCAATCTTTTATCATAATAAAAACTATCAAGAAATTATTAGAATTTAAAAAGGAAAATAGGCCTATTAATTAGATTTGTATAACATAATATTTTATGCCTATGAGTCCCCAACAAAGCCTCAAGCTTCTATTTAGATATAAAATG... | pathogenic | 19,594 |
Gene ASPM (assembly factor for spindle microtubules) variant at chromosome 1, position 197142354—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases', 'Microcephaly_5,_primary,_autosomal_recessive'] | GTGGCCTGTTGCCAGAACTGCAATAAGGATGAAGCAAAGAATACACGTAGGAAATGACATACAAGAGGCTAGAAGAGGTAGGGAGGAGTTCAATAATATTCAAAATAATAGTGGCAGCTAATACTTAAATACTTTGTGCCAGGCACTATCATAATCTTTTTCTCACACAGTTATGAGAACAAATTTATGAGAAGTGTACTATTATTACCACAATGTATATAATTAGGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAA... | GTGGCCTGTTGCCAGAACTGCAATAAGGATGAAGCAAAGAATACACGTAGGAAATGACATACAAGAGGCTAGAAGAGGTAGGGAGGAGTTCAATAATATTCAAAATAATAGTGGCAGCTAATACTTAAATACTTTGTGCCAGGCACTATCATAATCTTTTTCTCACACAGTTATGAGAACAAATTTATGAGAAGTGTACTATTATTACCACAATGTATATAATTAGGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAA... | pathogenic | 19,596 |
Gene ASPM (assembly factor for spindle microtubules) variant at chromosome 1, position 197142521—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Microcephaly', 'Microcephaly_5,_primary,_autosomal_recessive'] | CAGTTATGAGAACAAATTTATGAGAAGTGTACTATTATTACCACAATGTATATAATTAGGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAACCTCCACTATTAATCACTTTGAAGCACCTTCTATGCTAGTGAAGAATTTTAATCAAGGAAGTAAAAACCCTCATTTATATTTAAGAAAACAGTATGGACAATGGAATGAACAGGGTCAAGATTAGAAACAGAAAATTACAAAGCAGTTATTACAATGACCCAAGGTG... | CAGTTATGAGAACAAATTTATGAGAAGTGTACTATTATTACCACAATGTATATAATTAGGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAACCTCCACTATTAATCACTTTGAAGCACCTTCTATGCTAGTGAAGAATTTTAATCAAGGAAGTAAAAACCCTCATTTATATTTAAGAAAACAGTATGGACAATGGAATGAACAGGGTCAAGATTAGAAACAGAAAATTACAAAGCAGTTATTACAATGACCCAAGGTG... | pathogenic | 19,600 |
Variant at chromosome position 197142522, chromosome 1, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | AGTTATGAGAACAAATTTATGAGAAGTGTACTATTATTACCACAATGTATATAATTAGGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAACCTCCACTATTAATCACTTTGAAGCACCTTCTATGCTAGTGAAGAATTTTAATCAAGGAAGTAAAAACCCTCATTTATATTTAAGAAAACAGTATGGACAATGGAATGAACAGGGTCAAGATTAGAAACAGAAAATTACAAAGCAGTTATTACAATGACCCAAGGTGG... | AGTTATGAGAACAAATTTATGAGAAGTGTACTATTATTACCACAATGTATATAATTAGGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAACCTCCACTATTAATCACTTTGAAGCACCTTCTATGCTAGTGAAGAATTTTAATCAAGGAAGTAAAAACCCTCATTTATATTTAAGAAAACAGTATGGACAATGGAATGAACAGGGTCAAGATTAGAAACAGAAAATTACAAAGCAGTTATTACAATGACCCAAGGTGG... | pathogenic | 19,601 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 197142524, gene ASPM (assembly factor for spindle microtubules): what disease(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TTATGAGAACAAATTTATGAGAAGTGTACTATTATTACCACAATGTATATAATTAGGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAACCTCCACTATTAATCACTTTGAAGCACCTTCTATGCTAGTGAAGAATTTTAATCAAGGAAGTAAAAACCCTCATTTATATTTAAGAAAACAGTATGGACAATGGAATGAACAGGGTCAAGATTAGAAACAGAAAATTACAAAGCAGTTATTACAATGACCCAAGGTGGAT... | TTATGAGAACAAATTTATGAGAAGTGTACTATTATTACCACAATGTATATAATTAGGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAACCTCCACTATTAATCACTTTGAAGCACCTTCTATGCTAGTGAAGAATTTTAATCAAGGAAGTAAAAACCCTCATTTATATTTAAGAAAACAGTATGGACAATGGAATGAACAGGGTCAAGATTAGAAACAGAAAATTACAAAGCAGTTATTACAATGACCCAAGGTGGAT... | pathogenic | 19,602 |
Benign or pathogenic: chromosome 1, position 197142579, gene ASPM (assembly factor for spindle microtubules) variant? Disease(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | GGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAACCTCCACTATTAATCACTTTGAAGCACCTTCTATGCTAGTGAAGAATTTTAATCAAGGAAGTAAAAACCCTCATTTATATTTAAGAAAACAGTATGGACAATGGAATGAACAGGGTCAAGATTAGAAACAGAAAATTACAAAGCAGTTATTACAATGACCCAAGGTGGATATGGTGAGACAAATTAAAACAGAGTCAATGGAGACAAATCAGAGGAGAGTTATTT... | GGATACTGAGGCTTTGAGCAATTAAGCCACATGGTCTAAGGTCACATAAGCTAGTAAGTAGCAAAGATTTGAACAAAGGCAGTATAGTTACAGAACCTCCACTATTAATCACTTTGAAGCACCTTCTATGCTAGTGAAGAATTTTAATCAAGGAAGTAAAAACCCTCATTTATATTTAAGAAAACAGTATGGACAATGGAATGAACAGGGTCAAGATTAGAAACAGAAAATTACAAAGCAGTTATTACAATGACCCAAGGTGGATATGGTGAGACAAATTAAAACAGAGTCAATGGAGACAAATCAGAGGAGAGTTATTT... | pathogenic | 19,605 |
The genetic variant at chromosome 1, position 197143072, affecting gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TCAAAAACAGGTTTCACAACAAAATATACTGCTACTAAATATAAGCAAAGAGACAATAAGAGCAGGGGTCAGCAAACTACATCCATTCCCCATGCAAAACCCTCCCTACTGTTTTTGTATGTTCCAAGAGCTAAATATAGCTTTTACATTTGTAAAGAGTTAAAAAAAAAATGAAAATAATAATATTTCATAAAACACAAAACTTACATAAAATTCAAATTTCGGTGTTTATGAATAAAATTTTACTGAAACACAGCCATACTCCTTGATTTGCACATTGTCTATGGCTGTTTTCCCACAAGTGCAGCAGAGTTGAGTAA... | TCAAAAACAGGTTTCACAACAAAATATACTGCTACTAAATATAAGCAAAGAGACAATAAGAGCAGGGGTCAGCAAACTACATCCATTCCCCATGCAAAACCCTCCCTACTGTTTTTGTATGTTCCAAGAGCTAAATATAGCTTTTACATTTGTAAAGAGTTAAAAAAAAAATGAAAATAATAATATTTCATAAAACACAAAACTTACATAAAATTCAAATTTCGGTGTTTATGAATAAAATTTTACTGAAACACAGCCATACTCCTTGATTTGCACATTGTCTATGGCTGTTTTCCCACAAGTGCAGCAGAGTTGAGTAA... | pathogenic | 19,609 |
Clinical classification of chromosome 1, position 197143096, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TATACTGCTACTAAATATAAGCAAAGAGACAATAAGAGCAGGGGTCAGCAAACTACATCCATTCCCCATGCAAAACCCTCCCTACTGTTTTTGTATGTTCCAAGAGCTAAATATAGCTTTTACATTTGTAAAGAGTTAAAAAAAAAATGAAAATAATAATATTTCATAAAACACAAAACTTACATAAAATTCAAATTTCGGTGTTTATGAATAAAATTTTACTGAAACACAGCCATACTCCTTGATTTGCACATTGTCTATGGCTGTTTTCCCACAAGTGCAGCAGAGTTGAGTAATTGCAGTGCAAATCTATATGGCCT... | TATACTGCTACTAAATATAAGCAAAGAGACAATAAGAGCAGGGGTCAGCAAACTACATCCATTCCCCATGCAAAACCCTCCCTACTGTTTTTGTATGTTCCAAGAGCTAAATATAGCTTTTACATTTGTAAAGAGTTAAAAAAAAAATGAAAATAATAATATTTCATAAAACACAAAACTTACATAAAATTCAAATTTCGGTGTTTATGAATAAAATTTTACTGAAACACAGCCATACTCCTTGATTTGCACATTGTCTATGGCTGTTTTCCCACAAGTGCAGCAGAGTTGAGTAATTGCAGTGCAAATCTATATGGCCT... | pathogenic | 19,610 |
Gene ASPM (assembly factor for spindle microtubules) variant at chromosome position 197143278 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | CATAAAATTCAAATTTCGGTGTTTATGAATAAAATTTTACTGAAACACAGCCATACTCCTTGATTTGCACATTGTCTATGGCTGTTTTCCCACAAGTGCAGCAGAGTTGAGTAATTGCAGTGCAAATCTATATGGCCTGCAAAGCCTAAAATGTTTACTATCTGGACCAGTAGAGGAACAGTTTGCTTACCCTTGTTTTAAAGTAATCTCAAACCTATATCAATTGTGAAAATAAGGAACATGACTAAATTGCAACATAATACTTATTAGATTGTAAGGTTCTATGAATTGAACATTTAAAAAGTAAATTTCTAAGGAGA... | CATAAAATTCAAATTTCGGTGTTTATGAATAAAATTTTACTGAAACACAGCCATACTCCTTGATTTGCACATTGTCTATGGCTGTTTTCCCACAAGTGCAGCAGAGTTGAGTAATTGCAGTGCAAATCTATATGGCCTGCAAAGCCTAAAATGTTTACTATCTGGACCAGTAGAGGAACAGTTTGCTTACCCTTGTTTTAAAGTAATCTCAAACCTATATCAATTGTGAAAATAAGGAACATGACTAAATTGCAACATAATACTTATTAGATTGTAAGGTTCTATGAATTGAACATTTAAAAAGTAAATTTCTAAGGAGA... | pathogenic | 19,612 |
Regarding the variant at chromosome 1 and position 197143614, affecting gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | ACCTTACAGAAATTAGTCCCTCTCCCTGCAACCATTTTCTTCTTTAGGAAGTCTTTCTTGGAACCATCTCATACTTCCTTGCAATTTACACACAAACCCTCTGCTTCTGTGCTTCCTTAATTTCCTAAGCATAGCATAATCACAGGACTGAACGCAACTTGAGGACAGGAATTATCCCTTTCCTCCCTGTGTACACAGTGCCTAGAAAAATGCACATCACATAGTAGGTACCTTATCAGTCAAATAAATATATCTAGAAAAATTGCCTTCTCTGTTCCCTTAGATTTGTCAAGAGGTAGAAAGAGCCACTCTTGGTGACT... | ACCTTACAGAAATTAGTCCCTCTCCCTGCAACCATTTTCTTCTTTAGGAAGTCTTTCTTGGAACCATCTCATACTTCCTTGCAATTTACACACAAACCCTCTGCTTCTGTGCTTCCTTAATTTCCTAAGCATAGCATAATCACAGGACTGAACGCAACTTGAGGACAGGAATTATCCCTTTCCTCCCTGTGTACACAGTGCCTAGAAAAATGCACATCACATAGTAGGTACCTTATCAGTCAAATAAATATATCTAGAAAAATTGCCTTCTCTGTTCCCTTAGATTTGTCAAGAGGTAGAAAGAGCCACTCTTGGTGACT... | pathogenic | 19,616 |
Clinical significance of chromosome 1, position 197268428, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | ATAAGGGCAGTAATCCCATTCATGAGGGTTAGGTCTAACCACCTTTCAAAACTCCCCACCTCTTAATACTATCACATTGGGGATTAGGTTTCAACATGTGAATTTGGGAAGGGGGGAAAACATTCAGACCGCAGCATACCCATACTTATGCTTGAAAATTCAACGTAAATATTATATGTTTTTCTAAAGGAATTCCTGACTAGCCCAAATCTGACACATGGTAGCCATTGACTCATTTGTATAATGGCTATATCCACTTACTTTTTTATATTCAAACCCCATGTATATAATTCCTATAACCATCCTTTGTATAACATGTT... | ATAAGGGCAGTAATCCCATTCATGAGGGTTAGGTCTAACCACCTTTCAAAACTCCCCACCTCTTAATACTATCACATTGGGGATTAGGTTTCAACATGTGAATTTGGGAAGGGGGGAAAACATTCAGACCGCAGCATACCCATACTTATGCTTGAAAATTCAACGTAAATATTATATGTTTTTCTAAAGGAATTCCTGACTAGCCCAAATCTGACACATGGTAGCCATTGACTCATTTGTATAATGGCTATATCCACTTACTTTTTTATATTCAAACCCCATGTATATAATTCCTATAACCATCCTTTGTATAACATGTT... | pathogenic | 19,631 |
Assess the variant on chromosome 1, position 197268429, impacting CRB1 (crumbs cell polarity complex component 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_12'] | TAAGGGCAGTAATCCCATTCATGAGGGTTAGGTCTAACCACCTTTCAAAACTCCCCACCTCTTAATACTATCACATTGGGGATTAGGTTTCAACATGTGAATTTGGGAAGGGGGGAAAACATTCAGACCGCAGCATACCCATACTTATGCTTGAAAATTCAACGTAAATATTATATGTTTTTCTAAAGGAATTCCTGACTAGCCCAAATCTGACACATGGTAGCCATTGACTCATTTGTATAATGGCTATATCCACTTACTTTTTTATATTCAAACCCCATGTATATAATTCCTATAACCATCCTTTGTATAACATGTTC... | TAAGGGCAGTAATCCCATTCATGAGGGTTAGGTCTAACCACCTTTCAAAACTCCCCACCTCTTAATACTATCACATTGGGGATTAGGTTTCAACATGTGAATTTGGGAAGGGGGGAAAACATTCAGACCGCAGCATACCCATACTTATGCTTGAAAATTCAACGTAAATATTATATGTTTTTCTAAAGGAATTCCTGACTAGCCCAAATCTGACACATGGTAGCCATTGACTCATTTGTATAATGGCTATATCCACTTACTTTTTTATATTCAAACCCCATGTATATAATTCCTATAACCATCCTTTGTATAACATGTTC... | pathogenic | 19,632 |
Assess the variant on chromosome 1, position 197268467, impacting CRB1 (crumbs cell polarity complex component 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases', 'Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | CACCTTTCAAAACTCCCCACCTCTTAATACTATCACATTGGGGATTAGGTTTCAACATGTGAATTTGGGAAGGGGGGAAAACATTCAGACCGCAGCATACCCATACTTATGCTTGAAAATTCAACGTAAATATTATATGTTTTTCTAAAGGAATTCCTGACTAGCCCAAATCTGACACATGGTAGCCATTGACTCATTTGTATAATGGCTATATCCACTTACTTTTTTATATTCAAACCCCATGTATATAATTCCTATAACCATCCTTTGTATAACATGTTCTCTCAACCACTTATTTTCTTCGACACTTTTGTCTTTTG... | CACCTTTCAAAACTCCCCACCTCTTAATACTATCACATTGGGGATTAGGTTTCAACATGTGAATTTGGGAAGGGGGGAAAACATTCAGACCGCAGCATACCCATACTTATGCTTGAAAATTCAACGTAAATATTATATGTTTTTCTAAAGGAATTCCTGACTAGCCCAAATCTGACACATGGTAGCCATTGACTCATTTGTATAATGGCTATATCCACTTACTTTTTTATATTCAAACCCCATGTATATAATTCCTATAACCATCCTTTGTATAACATGTTCTCTCAACCACTTATTTTCTTCGACACTTTTGTCTTTTG... | pathogenic | 19,633 |
Evaluate this variant at chromosome 1, position 197268477, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinal_dystrophy', 'Retinitis_pigmentosa_12'] | AACTCCCCACCTCTTAATACTATCACATTGGGGATTAGGTTTCAACATGTGAATTTGGGAAGGGGGGAAAACATTCAGACCGCAGCATACCCATACTTATGCTTGAAAATTCAACGTAAATATTATATGTTTTTCTAAAGGAATTCCTGACTAGCCCAAATCTGACACATGGTAGCCATTGACTCATTTGTATAATGGCTATATCCACTTACTTTTTTATATTCAAACCCCATGTATATAATTCCTATAACCATCCTTTGTATAACATGTTCTCTCAACCACTTATTTTCTTCGACACTTTTGTCTTTTGAAAAACTAAT... | AACTCCCCACCTCTTAATACTATCACATTGGGGATTAGGTTTCAACATGTGAATTTGGGAAGGGGGGAAAACATTCAGACCGCAGCATACCCATACTTATGCTTGAAAATTCAACGTAAATATTATATGTTTTTCTAAAGGAATTCCTGACTAGCCCAAATCTGACACATGGTAGCCATTGACTCATTTGTATAATGGCTATATCCACTTACTTTTTTATATTCAAACCCCATGTATATAATTCCTATAACCATCCTTTGTATAACATGTTCTCTCAACCACTTATTTTCTTCGACACTTTTGTCTTTTGAAAAACTAAT... | pathogenic | 19,634 |
Chromosome 1, position 197328461, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | AGCTCAGGAGTTCGAGACCACCCTGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACAAGGGAGCTGGGGAACAGAACCTTTTTAATT... | AGCTCAGGAGTTCGAGACCACCCTGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACAAGGGAGCTGGGGAACAGAACCTTTTTAATT... | pathogenic | 19,638 |
Assess the variant on chromosome 1, position 197328484, impacting CRB1 (crumbs cell polarity complex component 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | TGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACAAGGGAGCTGGGGAACAGAACCTTTTTAATTCAATTTCATAATTATTTTTGTCC... | TGGCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACAAGGGAGCTGGGGAACAGAACCTTTTTAATTCAATTTCATAATTATTTTTGTCC... | pathogenic | 19,639 |
Clinical significance of chromosome 1, position 197328486, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | GCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACAAGGGAGCTGGGGAACAGAACCTTTTTAATTCAATTTCATAATTATTTTTGTCCGA... | GCGGCAACATGGTGAAACCCCCATCTCTACTAAAATACAAAAAATTAACCAGGCATGGTGGTGGGCTTCTGTCATCCCAGCTCTTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACAAGGGAGCTGGGGAACAGAACCTTTTTAATTCAATTTCATAATTATTTTTGTCCGA... | pathogenic | 19,640 |
Is the genetic change at chromosome 1, position 197328603, within gene CRB1 (crumbs cell polarity complex component 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | TGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACAAGGGAGCTGGGGAACAGAACCTTTTTAATTCAATTTCATAATTATTTTTGTCCGATCCTGACCATTCCCAGGTAATTTACAGGAAGGGCATAGTTGGCACCTTGAATTAGTCCATTGTTAGGCTTTCTATGTAAGGGTACTCGTGTTTTTTTGTTTGTTTATTTTGTTTCAT... | TGGGAGATGGAGGTTGCAGTGAGCTGAGATCATGCTACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAATAATAATAATAATAAATAATTTAAAAATGTATAATCAGATGTTAAATATTTTCTTGCAAAAAACAAGGGAGCTGGGGAACAGAACCTTTTTAATTCAATTTCATAATTATTTTTGTCCGATCCTGACCATTCCCAGGTAATTTACAGGAAGGGCATAGTTGGCACCTTGAATTAGTCCATTGTTAGGCTTTCTATGTAAGGGTACTCGTGTTTTTTTGTTTGTTTATTTTGTTTCAT... | pathogenic | 19,641 |
The mutation impacting CRB1 (crumbs cell polarity complex component 1) on chromosome 1 at position 197328787: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | CATAATTATTTTTGTCCGATCCTGACCATTCCCAGGTAATTTACAGGAAGGGCATAGTTGGCACCTTGAATTAGTCCATTGTTAGGCTTTCTATGTAAGGGTACTCGTGTTTTTTTGTTTGTTTATTTTGTTTCATTCTCTTTCTTAAAATAAAATTCCTTCAGTGAAAATTATTAGTGACTTGTACCTTTTTAATTATTTTTATTGCTATGTTTTGTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATTTACCAAACACTTACGATGTGTCTGCAAAG... | CATAATTATTTTTGTCCGATCCTGACCATTCCCAGGTAATTTACAGGAAGGGCATAGTTGGCACCTTGAATTAGTCCATTGTTAGGCTTTCTATGTAAGGGTACTCGTGTTTTTTTGTTTGTTTATTTTGTTTCATTCTCTTTCTTAAAATAAAATTCCTTCAGTGAAAATTATTAGTGACTTGTACCTTTTTAATTATTTTTATTGCTATGTTTTGTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATTTACCAAACACTTACGATGTGTCTGCAAAG... | pathogenic | 19,643 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 197328855, gene CRB1 (crumbs cell polarity complex component 1): what disease(s) if pathogenic? | pathogenic; ['CRB1-related_disorder', 'Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_12'] | AATTAGTCCATTGTTAGGCTTTCTATGTAAGGGTACTCGTGTTTTTTTGTTTGTTTATTTTGTTTCATTCTCTTTCTTAAAATAAAATTCCTTCAGTGAAAATTATTAGTGACTTGTACCTTTTTAATTATTTTTATTGCTATGTTTTGTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATTTACCAAACACTTACGATGTGTCTGCAAAGCATTTAAATTTAGTGACTTAATTCTCACACACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA... | AATTAGTCCATTGTTAGGCTTTCTATGTAAGGGTACTCGTGTTTTTTTGTTTGTTTATTTTGTTTCATTCTCTTTCTTAAAATAAAATTCCTTCAGTGAAAATTATTAGTGACTTGTACCTTTTTAATTATTTTTATTGCTATGTTTTGTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATTTACCAAACACTTACGATGTGTCTGCAAAGCATTTAAATTTAGTGACTTAATTCTCACACACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA... | pathogenic | 19,645 |
Clinical significance of chromosome 1, position 197328960, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_1', 'Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_12'] | TTAGTGACTTGTACCTTTTTAATTATTTTTATTGCTATGTTTTGTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATTTACCAAACACTTACGATGTGTCTGCAAAGCATTTAAATTTAGTGACTTAATTCTCACACACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGAAACCAAGGCTGGGAGAGGCAGAGCAGGCCTGGTACCCATCTGTTGCCCCTTCCCACTGTATTATCCTGACTCGCTGGTAAATCTCCTATGATTGC... | TTAGTGACTTGTACCTTTTTAATTATTTTTATTGCTATGTTTTGTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATTTACCAAACACTTACGATGTGTCTGCAAAGCATTTAAATTTAGTGACTTAATTCTCACACACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGAAACCAAGGCTGGGAGAGGCAGAGCAGGCCTGGTACCCATCTGTTGCCCCTTCCCACTGTATTATCCTGACTCGCTGGTAAATCTCCTATGATTGC... | pathogenic | 19,653 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 197329003, gene CRB1 (crumbs cell polarity complex component 1): what disease(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinal_dystrophy', 'Retinitis_pigmentosa_12'] | GTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATTTACCAAACACTTACGATGTGTCTGCAAAGCATTTAAATTTAGTGACTTAATTCTCACACACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGAAACCAAGGCTGGGAGAGGCAGAGCAGGCCTGGTACCCATCTGTTGCCCCTTCCCACTGTATTATCCTGACTCGCTGGTAAATCTCCTATGATTGCTAAATAGAAAAGTCAATGAAAAGATTGATAATAAAAACCACTG... | GTACTTGTTCAGTAAATTTTCTATTAAGAACTCAAAACTATTTCTCAACATCTTATAAAGGTAAGAGCTAGCATTTACCAAACACTTACGATGTGTCTGCAAAGCATTTAAATTTAGTGACTTAATTCTCACACACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGAAACCAAGGCTGGGAGAGGCAGAGCAGGCCTGGTACCCATCTGTTGCCCCTTCCCACTGTATTATCCTGACTCGCTGGTAAATCTCCTATGATTGCTAAATAGAAAAGTCAATGAAAAGATTGATAATAAAAACCACTG... | pathogenic | 19,655 |
Chromosome 1, position 197344288, gene CRB1 (crumbs cell polarity complex component 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | CTTCTCATTTCCTTTCTACTATTGAATTTTTAGCAGAACCTCTGTCGCCTGGCCTTTCCATACCCATACTCTCTCTCACTCCTTCTCTATCTTGACATCTCCCCAACAATCATGGACTTAATGAGAAGCATCTCAAGAATGTGTCTGTCATTGCTCTCTAAACATTCTTGTTTTTGACCTTCAACTTTCCAGTAGTGGAAAGCCCCATTTTCTACCTTCTTCTCGTCTAGCTGTAAAGCTATTAATCCACTTCAAATATTTATTACCTAATTTTAGCTATATATTTGCTATTGCTTTGTGGCTTTTTCTACATTAATTGT... | CTTCTCATTTCCTTTCTACTATTGAATTTTTAGCAGAACCTCTGTCGCCTGGCCTTTCCATACCCATACTCTCTCTCACTCCTTCTCTATCTTGACATCTCCCCAACAATCATGGACTTAATGAGAAGCATCTCAAGAATGTGTCTGTCATTGCTCTCTAAACATTCTTGTTTTTGACCTTCAACTTTCCAGTAGTGGAAAGCCCCATTTTCTACCTTCTTCTCGTCTAGCTGTAAAGCTATTAATCCACTTCAAATATTTATTACCTAATTTTAGCTATATATTTGCTATTGCTTTGTGGCTTTTTCTACATTAATTGT... | pathogenic | 19,659 |
Determine whether the variant at chromosome 1, position 197344427, in gene CRB1 (crumbs cell polarity complex component 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | TGTGTCTGTCATTGCTCTCTAAACATTCTTGTTTTTGACCTTCAACTTTCCAGTAGTGGAAAGCCCCATTTTCTACCTTCTTCTCGTCTAGCTGTAAAGCTATTAATCCACTTCAAATATTTATTACCTAATTTTAGCTATATATTTGCTATTGCTTTGTGGCTTTTTCTACATTAATTGTTGATTTTTTTAAATGGTATTTGACACGCTGGCTGCTCCAAATTTTTCCAGTCTCTATATTTTATACTCCCAGTAATGTCATTTATATTTATTGATAAGTGAATTTAAGGTTATTCTAAATTCTCTTTTAGAGTTGTCTT... | TGTGTCTGTCATTGCTCTCTAAACATTCTTGTTTTTGACCTTCAACTTTCCAGTAGTGGAAAGCCCCATTTTCTACCTTCTTCTCGTCTAGCTGTAAAGCTATTAATCCACTTCAAATATTTATTACCTAATTTTAGCTATATATTTGCTATTGCTTTGTGGCTTTTTCTACATTAATTGTTGATTTTTTTAAATGGTATTTGACACGCTGGCTGCTCCAAATTTTTCCAGTCTCTATATTTTATACTCCCAGTAATGTCATTTATATTTATTGATAAGTGAATTTAAGGTTATTCTAAATTCTCTTTTAGAGTTGTCTT... | pathogenic | 19,661 |
Variant at chromosome 1, position 197356833, gene CRB1 (crumbs cell polarity complex component 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | GCAGCCTGCTTTTATTCCCTTATCTGCCCCCCGCCCCCCCACCCCCCCCCCCCGCCCACCCCCCCCCCCCCGCCCACCCACCCACATCCTGCTGATTGGTCCATTTTACAGCGAGCCAATTGGTCTGTTTTACAGAGAGCTGATTGGTCCATTTTGACAGAGCACTGATTGGTGCATTTTCAAACCTCGAGCTAGACACAGAGTGCTGATTGGTGTATTTACAATCCCTTAGCCATAAAGATTCTCCAAGTCCCACTAGATTAGCTAGATACAGAGTGCCTATTGTTGCATCCACAAACCTTGAGCTAGACACAGGGTGC... | GCAGCCTGCTTTTATTCCCTTATCTGCCCCCCGCCCCCCCACCCCCCCCCCCCGCCCACCCCCCCCCCCCCGCCCACCCACCCACATCCTGCTGATTGGTCCATTTTACAGCGAGCCAATTGGTCTGTTTTACAGAGAGCTGATTGGTCCATTTTGACAGAGCACTGATTGGTGCATTTTCAAACCTCGAGCTAGACACAGAGTGCTGATTGGTGTATTTACAATCCCTTAGCCATAAAGATTCTCCAAGTCCCACTAGATTAGCTAGATACAGAGTGCCTATTGTTGCATCCACAAACCTTGAGCTAGACACAGGGTGC... | pathogenic | 19,671 |
Is the chromosome 1, position 197356990 variant in CRB1 (crumbs cell polarity complex component 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | CAGAGCACTGATTGGTGCATTTTCAAACCTCGAGCTAGACACAGAGTGCTGATTGGTGTATTTACAATCCCTTAGCCATAAAGATTCTCCAAGTCCCACTAGATTAGCTAGATACAGAGTGCCTATTGTTGCATCCACAAACCTTGAGCTAGACACAGGGTGCTGATTGATGTGTTTACAAACCTTAAGCTAGACACAGAGTGCTGGTTGGTGTATTTACAATCCCTTAGCTAGACATAAATATTCTTCAAGTCCCCACCAGATTAGCTAGATACAGAGTGCCCATTGGGCATCCACAAACCTTGAGCTAGACACAGGGT... | CAGAGCACTGATTGGTGCATTTTCAAACCTCGAGCTAGACACAGAGTGCTGATTGGTGTATTTACAATCCCTTAGCCATAAAGATTCTCCAAGTCCCACTAGATTAGCTAGATACAGAGTGCCTATTGTTGCATCCACAAACCTTGAGCTAGACACAGGGTGCTGATTGATGTGTTTACAAACCTTAAGCTAGACACAGAGTGCTGGTTGGTGTATTTACAATCCCTTAGCTAGACATAAATATTCTTCAAGTCCCCACCAGATTAGCTAGATACAGAGTGCCCATTGGGCATCCACAAACCTTGAGCTAGACACAGGGT... | pathogenic | 19,680 |
Does the chromosome 1 mutation at position 197421100 within gene CRB1 (crumbs cell polarity complex component 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | CAATGTTATGAATATTTACATGTCTTAACTGGTTTAATCTTTAAAAGAGCCTCGTGATGTAAATACTATTATTAATCCCATTCATAGATGAGGAAACAAATATAGAAAGTATATGTGACCTGCTCACAATCAAGCAGCATAGCTGGGGTTCTGATCCAACATTATCAATATAGGAATCTTTGGTTTAAATTTTTAAAAACACACATTTGGGCATAGAGTTAAATGGAAAAATAAGACATGCATATTAATAACAAACAATAAATGAGAATACACTAAATTATTAATTAAAAAACTGTGTGTCAGATTGGATTCTTTTTTTT... | CAATGTTATGAATATTTACATGTCTTAACTGGTTTAATCTTTAAAAGAGCCTCGTGATGTAAATACTATTATTAATCCCATTCATAGATGAGGAAACAAATATAGAAAGTATATGTGACCTGCTCACAATCAAGCAGCATAGCTGGGGTTCTGATCCAACATTATCAATATAGGAATCTTTGGTTTAAATTTTTAAAAACACACATTTGGGCATAGAGTTAAATGGAAAAATAAGACATGCATATTAATAACAAACAATAAATGAGAATACACTAAATTATTAATTAAAAAACTGTGTGTCAGATTGGATTCTTTTTTTT... | pathogenic | 19,691 |
Does the variant impacting CRB1 (crumbs cell polarity complex component 1) on chromosome 1, position 197421256, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_8', 'Macular_dystrophy', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | CAACATTATCAATATAGGAATCTTTGGTTTAAATTTTTAAAAACACACATTTGGGCATAGAGTTAAATGGAAAAATAAGACATGCATATTAATAACAAACAATAAATGAGAATACACTAAATTATTAATTAAAAAACTGTGTGTCAGATTGGATTCTTTTTTTTTTTTTTTTGAGACAAGAGTCTCGCTTTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCTTGGCTCACTGCAATCTTCACCTCCTGAGTTCAAGAGATTGTCCTGCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCGCCACCATGCTTGGCC... | CAACATTATCAATATAGGAATCTTTGGTTTAAATTTTTAAAAACACACATTTGGGCATAGAGTTAAATGGAAAAATAAGACATGCATATTAATAACAAACAATAAATGAGAATACACTAAATTATTAATTAAAAAACTGTGTGTCAGATTGGATTCTTTTTTTTTTTTTTTTGAGACAAGAGTCTCGCTTTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCTTGGCTCACTGCAATCTTCACCTCCTGAGTTCAAGAGATTGTCCTGCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCGCCACCATGCTTGGCC... | pathogenic | 19,697 |
The mutation impacting CRB1 (crumbs cell polarity complex component 1) on chromosome 1 at position 197421271: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_12'] | AGGAATCTTTGGTTTAAATTTTTAAAAACACACATTTGGGCATAGAGTTAAATGGAAAAATAAGACATGCATATTAATAACAAACAATAAATGAGAATACACTAAATTATTAATTAAAAAACTGTGTGTCAGATTGGATTCTTTTTTTTTTTTTTTTGAGACAAGAGTCTCGCTTTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCTTGGCTCACTGCAATCTTCACCTCCTGAGTTCAAGAGATTGTCCTGCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCGCCACCATGCTTGGCCAGTTTTTGTATTTTT... | AGGAATCTTTGGTTTAAATTTTTAAAAACACACATTTGGGCATAGAGTTAAATGGAAAAATAAGACATGCATATTAATAACAAACAATAAATGAGAATACACTAAATTATTAATTAAAAAACTGTGTGTCAGATTGGATTCTTTTTTTTTTTTTTTTGAGACAAGAGTCTCGCTTTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCTTGGCTCACTGCAATCTTCACCTCCTGAGTTCAAGAGATTGTCCTGCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCGCCACCATGCTTGGCCAGTTTTTGTATTTTT... | pathogenic | 19,702 |
Does the genetic variant at chromosome 1, position 197421482, impacting gene CRB1 (crumbs cell polarity complex component 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['CRB1-related_disorder', 'Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | CTCACTGCAATCTTCACCTCCTGAGTTCAAGAGATTGTCCTGCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCGCCACCATGCTTGGCCAGTTTTTGTATTTTTAGTAAAGATAGGATTTCACCATGTTGGCCAGGCTGATCTGAAACTCCTGGCCTTAAGCAATCCACCCAGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGAT... | CTCACTGCAATCTTCACCTCCTGAGTTCAAGAGATTGTCCTGCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCGCCACCATGCTTGGCCAGTTTTTGTATTTTTAGTAAAGATAGGATTTCACCATGTTGGCCAGGCTGATCTGAAACTCCTGGCCTTAAGCAATCCACCCAGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGAT... | pathogenic | 19,707 |
Mutation at chromosome 1, position 197421486, within CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | CTGCAATCTTCACCTCCTGAGTTCAAGAGATTGTCCTGCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCGCCACCATGCTTGGCCAGTTTTTGTATTTTTAGTAAAGATAGGATTTCACCATGTTGGCCAGGCTGATCTGAAACTCCTGGCCTTAAGCAATCCACCCAGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACG... | CTGCAATCTTCACCTCCTGAGTTCAAGAGATTGTCCTGCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCGCCACCATGCTTGGCCAGTTTTTGTATTTTTAGTAAAGATAGGATTTCACCATGTTGGCCAGGCTGATCTGAAACTCCTGGCCTTAAGCAATCCACCCAGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACG... | pathogenic | 19,708 |
Clinical classification of chromosome 1, position 197421568, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | GCTTGGCCAGTTTTTGTATTTTTAGTAAAGATAGGATTTCACCATGTTGGCCAGGCTGATCTGAAACTCCTGGCCTTAAGCAATCCACCCAGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACAAAAAAAAAAAAAAAATTAACCAGGCGTGG... | GCTTGGCCAGTTTTTGTATTTTTAGTAAAGATAGGATTTCACCATGTTGGCCAGGCTGATCTGAAACTCCTGGCCTTAAGCAATCCACCCAGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACAAAAAAAAAAAAAAAATTAACCAGGCGTGG... | pathogenic | 19,710 |
Gene mutation in CRB1 (crumbs cell polarity complex component 1) at chromosome 1, position 197421597—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_12'] | GATAGGATTTCACCATGTTGGCCAGGCTGATCTGAAACTCCTGGCCTTAAGCAATCCACCCAGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACAAAAAAAAAAAAAAAATTAACCAGGCGTGGTGGCGGGCGCCTGTAGTCCAAGCTACTCG... | GATAGGATTTCACCATGTTGGCCAGGCTGATCTGAAACTCCTGGCCTTAAGCAATCCACCCAGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACAAAAAAAAAAAAAAAATTAACCAGGCGTGGTGGCGGGCGCCTGTAGTCCAAGCTACTCG... | pathogenic | 19,711 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 197421658, gene CRB1 (crumbs cell polarity complex component 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | AGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACAAAAAAAAAAAAAAAATTAACCAGGCGTGGTGGCGGGCGCCTGTAGTCCAAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTAAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATT... | AGCTAGGCCCCCTAAAGTGCTGGGATTACAGTTGTGAGCTACCGAGCATGGCCAGGTTGGATTTTTAAAACCTAGTTAATTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACAAAAAAAAAAAAAAAATTAACCAGGCGTGGTGGCGGGCGCCTGTAGTCCAAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTAAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATT... | pathogenic | 19,712 |
Evaluate the clinical significance of the mutation at chromosome 1, position 197427567 in gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | GGATATAAAATCTTGAAGACAGCAATATCTTGAAGACAGTGATCTTGTCAAGTTATCAATGCTTTCTAGACTGCAAAATCAATGGTCAATTCTGTCCCCATCTTACTTGATTTCTCAATACCAGTTAACACAATTAAACACTCCCTCCTCCTGAAAAACTATTTTCTCACTAGGCTTATGGGACACCACACTCCCTTGGTTCTCCTCTTATCTTACTGGCTACTCTTGCATCATTTCCTTTACCTCTACTTGTCTAATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATC... | GGATATAAAATCTTGAAGACAGCAATATCTTGAAGACAGTGATCTTGTCAAGTTATCAATGCTTTCTAGACTGCAAAATCAATGGTCAATTCTGTCCCCATCTTACTTGATTTCTCAATACCAGTTAACACAATTAAACACTCCCTCCTCCTGAAAAACTATTTTCTCACTAGGCTTATGGGACACCACACTCCCTTGGTTCTCCTCTTATCTTACTGGCTACTCTTGCATCATTTCCTTTACCTCTACTTGTCTAATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATC... | pathogenic | 19,734 |
Benign or pathogenic: chromosome 1, position 197427587, gene CRB1 (crumbs cell polarity complex component 1) variant? Disease(s) if pathogenic? | pathogenic; ['CRB1-related_disorder', 'Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | AGCAATATCTTGAAGACAGTGATCTTGTCAAGTTATCAATGCTTTCTAGACTGCAAAATCAATGGTCAATTCTGTCCCCATCTTACTTGATTTCTCAATACCAGTTAACACAATTAAACACTCCCTCCTCCTGAAAAACTATTTTCTCACTAGGCTTATGGGACACCACACTCCCTTGGTTCTCCTCTTATCTTACTGGCTACTCTTGCATCATTTCCTTTACCTCTACTTGTCTAATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCT... | AGCAATATCTTGAAGACAGTGATCTTGTCAAGTTATCAATGCTTTCTAGACTGCAAAATCAATGGTCAATTCTGTCCCCATCTTACTTGATTTCTCAATACCAGTTAACACAATTAAACACTCCCTCCTCCTGAAAAACTATTTTCTCACTAGGCTTATGGGACACCACACTCCCTTGGTTCTCCTCTTATCTTACTGGCTACTCTTGCATCATTTCCTTTACCTCTACTTGTCTAATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCT... | pathogenic | 19,737 |
Determine if the mutation at chromosome 1, position 197427826 in gene CRB1 (crumbs cell polarity complex component 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | CCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTT... | CCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTT... | pathogenic | 19,747 |
Does the chromosome 1 mutation at position 197427855 within gene CRB1 (crumbs cell polarity complex component 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Leber_congenital_amaurosis_1', 'Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | TTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCC... | TTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCC... | pathogenic | 19,749 |
Variant chromosome 1, position 197434701, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? Disease(s)? | benign | TCATAAAGCTTATGTCCTAGTGCAGAAAGACAGTGAAGGAACAAGTAAACAAATAAACGTAATTTTAAGTGGTAATGGGAGCTATGAAGAAAATTAAGCATAGACAGTGAATGCAGGGAGGCGGTTTTTTTAACTTGGATAGTCAGGGAAAAGCTTCTCAGAGGAGGTGACATTTGAGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGG... | TCATAAAGCTTATGTCCTAGTGCAGAAAGACAGTGAAGGAACAAGTAAACAAATAAACGTAATTTTAAGTGGTAATGGGAGCTATGAAGAAAATTAAGCATAGACAGTGAATGCAGGGAGGCGGTTTTTTTAACTTGGATAGTCAGGGAAAAGCTTCTCAGAGGAGGTGACATTTGAGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGG... | benign | 19,768 |
Clinically, how would you classify the variant at chromosome 1, position 197434741, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | ACAAGTAAACAAATAAACGTAATTTTAAGTGGTAATGGGAGCTATGAAGAAAATTAAGCATAGACAGTGAATGCAGGGAGGCGGTTTTTTTAACTTGGATAGTCAGGGAAAAGCTTCTCAGAGGAGGTGACATTTGAGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCA... | ACAAGTAAACAAATAAACGTAATTTTAAGTGGTAATGGGAGCTATGAAGAAAATTAAGCATAGACAGTGAATGCAGGGAGGCGGTTTTTTTAACTTGGATAGTCAGGGAAAAGCTTCTCAGAGGAGGTGACATTTGAGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCA... | pathogenic | 19,771 |
Is chromosome 1, position 197434972, gene CRB1 (crumbs cell polarity complex component 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | GAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGAT... | GAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGAT... | pathogenic | 19,778 |
Does the genetic variant at chromosome 1, position 197434996, impacting gene CRB1 (crumbs cell polarity complex component 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | GAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAG... | GAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAG... | pathogenic | 19,781 |
Is the variant located on chromosome 1 at position 197435005, gene CRB1 (crumbs cell polarity complex component 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | GAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTA... | GAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTA... | pathogenic | 19,782 |
Variant chromosome 1, position 197435006, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? Disease(s)? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | AAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTAT... | AAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTAT... | pathogenic | 19,783 |
Determine if the mutation at chromosome 1, position 197435289 in gene CRB1 (crumbs cell polarity complex component 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | GATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGG... | GATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGG... | pathogenic | 19,791 |
The mutation in gene CRB1 (crumbs cell polarity complex component 1) at chromosome 1, position 197435303—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | CTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAG... | CTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAG... | pathogenic | 19,793 |
Gene CRB1 (crumbs cell polarity complex component 1) variant at chromosome position 197435322 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Leber_congenital_amaurosis_1', 'Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | TTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGA... | TTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGA... | pathogenic | 19,796 |
Does the chromosome 1 mutation at position 197435404 within gene CRB1 (crumbs cell polarity complex component 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinal_dystrophy', 'Retinitis_pigmentosa_12'] | TGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCAGGATACTGTTTCGTGTGTATTTTTATTTTTTAAGATTAAAGCAATT... | TGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCAGGATACTGTTTCGTGTGTATTTTTATTTTTTAAGATTAAAGCAATT... | pathogenic | 19,801 |
The chromosome 1, position 197435492 genetic variant in gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | GTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCAGGATACTGTTTCGTGTGTATTTTTATTTTTTAAGATTAAAGCAATTACACATATTTGTATATTGATGGGAAACAACAAAATGGAAGGGGAAATGATGATGCAAGAAAGAAAAAGAATGCATAGAGGAATAATAT... | GTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCAGGATACTGTTTCGTGTGTATTTTTATTTTTTAAGATTAAAGCAATTACACATATTTGTATATTGATGGGAAACAACAAAATGGAAGGGGAAATGATGATGCAAGAAAGAAAAAGAATGCATAGAGGAATAATAT... | pathogenic | 19,802 |
Variant chromosome 1, position 197435574, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? Disease(s)? | pathogenic; ['CRB1-related_disorder', 'Leber_congenital_amaurosis_8', 'Retinal_dystrophy', 'Retinitis_pigmentosa_12'] | AGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCAGGATACTGTTTCGTGTGTATTTTTATTTTTTAAGATTAAAGCAATTACACATATTTGTATATTGATGGGAAACAACAAAATGGAAGGGGAAATGATGATGCAAGAAAGAAAAAGAATGCATAGAGGAATAATATGTTTAAAAGGTGAAAAGCAGTAGGACCCAGTTTATAACTGGTAGAGTTGACCTTGGTGGGAATACAGACAATACGTCTATTA... | AGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCAGGATACTGTTTCGTGTGTATTTTTATTTTTTAAGATTAAAGCAATTACACATATTTGTATATTGATGGGAAACAACAAAATGGAAGGGGAAATGATGATGCAAGAAAGAAAAAGAATGCATAGAGGAATAATATGTTTAAAAGGTGAAAAGCAGTAGGACCCAGTTTATAACTGGTAGAGTTGACCTTGGTGGGAATACAGACAATACGTCTATTA... | pathogenic | 19,807 |
Evaluate this variant at chromosome 1, position 197438676, gene CRB1 (crumbs cell polarity complex component 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinal_dystrophy', 'Retinitis_pigmentosa_12'] | TGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACAACTACAAAAGCAGTATT... | TGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACAACTACAAAAGCAGTATT... | pathogenic | 19,810 |
Benign or pathogenic: chromosome 1, position 197442182, gene CRB1 (crumbs cell polarity complex component 1) variant? Disease(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinitis_pigmentosa_12'] | GTCATTAATTTTGAGTAATCCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACA... | GTCATTAATTTTGAGTAATCCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACA... | pathogenic | 19,814 |
Variant in gene CRB1 (crumbs cell polarity complex component 1), located at chromosome 1 position 197442274: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_8', 'Pigmented_paravenous_retinochoroidal_atrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_12'] | CTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTC... | CTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTC... | pathogenic | 19,818 |
Considering the genetic mutation at chromosome 1, position 197442295, impacting CRB1 (crumbs cell polarity complex component 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAAT... | TTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAAT... | benign | 19,825 |
Determine if the mutation at chromosome 1, position 197477696 in gene CRB1 (crumbs cell polarity complex component 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | AGGACAAAGTCTGAGTTTAGTGTGGCATTCACATTTCTTAACAAGACCCTTCTACTTTATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGT... | AGGACAAAGTCTGAGTTTAGTGTGGCATTCACATTTCTTAACAAGACCCTTCTACTTTATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGT... | pathogenic | 19,828 |
Variant in CRB1 (crumbs cell polarity complex component 1), chromosome 1, position 197477774—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_8', 'Retinitis_pigmentosa_12'] | CTCTTTTCACCCTTTCCCAATTCAAACATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGG... | CTCTTTTCACCCTTTCCCAATTCAAACATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGG... | pathogenic | 19,830 |
Clinical classification of chromosome 1, position 198704452, gene PTPRC (protein tyrosine phosphatase receptor type C): benign or pathogenic? Disease(s) if pathogenic? | benign | AGTACAGCCAGCACCTTTCCTACAGACCCAGTTTCCCCATTGACAACCACCCTCAGCCTTGCACACCACAGCTCTGCTGCCTTACCTGCACGCACCTCCAACACCACCATCACAGCGAACACCTCAGGTCTGACTATGCTGCTCTAGTAGTGTCTTCAGTTATAGATAATGAAATGGAAACTCAAAACTTTAATGTAGCTCTTTTATTTTGTGCCAGATATTATTTGTAGGTTTCCCATTTTACAAATGTTCACGTATCAACACCAAATTATGCAAAAGAAACTTGCCAGTAAGCTTTTTCTGGGCATATTTTATTTTAC... | AGTACAGCCAGCACCTTTCCTACAGACCCAGTTTCCCCATTGACAACCACCCTCAGCCTTGCACACCACAGCTCTGCTGCCTTACCTGCACGCACCTCCAACACCACCATCACAGCGAACACCTCAGGTCTGACTATGCTGCTCTAGTAGTGTCTTCAGTTATAGATAATGAAATGGAAACTCAAAACTTTAATGTAGCTCTTTTATTTTGTGCCAGATATTATTTGTAGGTTTCCCATTTTACAAATGTTCACGTATCAACACCAAATTATGCAAAAGAAACTTGCCAGTAAGCTTTTTCTGGGCATATTTTATTTTAC... | benign | 19,853 |
Variant at chromosome position 198748089, chromosome 1, gene PTPRC (protein tyrosine phosphatase receptor type C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGAGGGAAAGTCATGGGAGGTGAAGAAGCTAAGAAATGAAGAGACTAGAGTCTTGGATAGATTATTCTTGTCAATGTTGAATTAACCAAAAATGATGACAGACCTTGGAAAGAAGAGAATATACTTAGCCAAGCCTAAAACTAAATGAGGTGGAGTGATTCAGAAATCAATACCTGACACTTCCCAGTGAAGCCGGTGGATAGAAGCTAGTATAGTATGATGGCAGGAATATCAAAGTGCTTGGTTGATTTGAAAGCAAATGAGTAGAAATGGTTTGCAAGTAGAATCAGGGATCAAGGAGAACACGTATCTTTTCTTGA... | GGAGGGAAAGTCATGGGAGGTGAAGAAGCTAAGAAATGAAGAGACTAGAGTCTTGGATAGATTATTCTTGTCAATGTTGAATTAACCAAAAATGATGACAGACCTTGGAAAGAAGAGAATATACTTAGCCAAGCCTAAAACTAAATGAGGTGGAGTGATTCAGAAATCAATACCTGACACTTCCCAGTGAAGCCGGTGGATAGAAGCTAGTATAGTATGATGGCAGGAATATCAAAGTGCTTGGTTGATTTGAAAGCAAATGAGTAGAAATGGTTTGCAAGTAGAATCAGGGATCAAGGAGAACACGTATCTTTTCTTGA... | benign | 19,884 |
Gene PTPRC (protein tyrosine phosphatase receptor type C) variant at chromosome position 198748089 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGAGGGAAAGTCATGGGAGGTGAAGAAGCTAAGAAATGAAGAGACTAGAGTCTTGGATAGATTATTCTTGTCAATGTTGAATTAACCAAAAATGATGACAGACCTTGGAAAGAAGAGAATATACTTAGCCAAGCCTAAAACTAAATGAGGTGGAGTGATTCAGAAATCAATACCTGACACTTCCCAGTGAAGCCGGTGGATAGAAGCTAGTATAGTATGATGGCAGGAATATCAAAGTGCTTGGTTGATTTGAAAGCAAATGAGTAGAAATGGTTTGCAAGTAGAATCAGGGATCAAGGAGAACACGTATCTTTTCTTGA... | GGAGGGAAAGTCATGGGAGGTGAAGAAGCTAAGAAATGAAGAGACTAGAGTCTTGGATAGATTATTCTTGTCAATGTTGAATTAACCAAAAATGATGACAGACCTTGGAAAGAAGAGAATATACTTAGCCAAGCCTAAAACTAAATGAGGTGGAGTGATTCAGAAATCAATACCTGACACTTCCCAGTGAAGCCGGTGGATAGAAGCTAGTATAGTATGATGGCAGGAATATCAAAGTGCTTGGTTGATTTGAAAGCAAATGAGTAGAAATGGTTTGCAAGTAGAATCAGGGATCAAGGAGAACACGTATCTTTTCTTGA... | benign | 19,885 |
Evaluate the clinical significance of the mutation at chromosome 1, position 200560857 in gene KIF14 (kinesin family member 14): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Lethal_fetal_cerebrorenogenitourinary_agenesis/hypoplasia_syndrome', 'Microcephaly_20,_primary,_autosomal_recessive'] | AGATCTTTCCTAAGGTACTAAGTAATGTTAGCTGGAGGATGGGAGGACACATATTTTAGGAAATCACTGAAATGCTTATTGGTTCTGTATCTTGATATGAAATATCTTATGTGAATGCCCCAGAAAAATATTTAGTTCAAGATACTGAATCAATAAATGTTACTAATAGTTTCCATTCTTAGAAGAGGAGAAGACTAAACAAAGCTAAGGAAGAAAATGACAACCAGAAAGCGAACACTAGGTGTCACTACCACACTCCACTCTCTGCTTAGGAGTTTACAGACTGAATTCTTGAAAATAGCTGCAACAGGACCAAGCAA... | AGATCTTTCCTAAGGTACTAAGTAATGTTAGCTGGAGGATGGGAGGACACATATTTTAGGAAATCACTGAAATGCTTATTGGTTCTGTATCTTGATATGAAATATCTTATGTGAATGCCCCAGAAAAATATTTAGTTCAAGATACTGAATCAATAAATGTTACTAATAGTTTCCATTCTTAGAAGAGGAGAAGACTAAACAAAGCTAAGGAAGAAAATGACAACCAGAAAGCGAACACTAGGTGTCACTACCACACTCCACTCTCTGCTTAGGAGTTTACAGACTGAATTCTTGAAAATAGCTGCAACAGGACCAAGCAA... | pathogenic | 19,914 |
The mutation impacting CACNA1S (calcium voltage-gated channel subunit alpha1 S) on chromosome 1 at position 201039955: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGTGGATCACTTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGCAAAACACAGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGGAGGAGAATCACTTGAACCCAGGAGATGAAGGTTGCAGTGAGCTGAGTTCATGCCACTGCACTCTAGCCTGGGTACCAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAGATAGATCATAGATGATGGATGGATGGATGATGGATGGATGGGTGGATGGATGAATGGAAAAACAGAGAGGGAGACA... | GGTGGATCACTTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGCAAAACACAGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGGAGGAGAATCACTTGAACCCAGGAGATGAAGGTTGCAGTGAGCTGAGTTCATGCCACTGCACTCTAGCCTGGGTACCAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAGATAGATCATAGATGATGGATGGATGGATGATGGATGGATGGGTGGATGGATGAATGGAAAAACAGAGAGGGAGACA... | benign | 20,002 |
Does the genetic variant at chromosome 1, position 201043361, impacting gene CACNA1S (calcium voltage-gated channel subunit alpha1 S), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Centronuclear_myopathy', 'Congenital_myopathy_18', 'Hypokalemic_periodic_paralysis,_type_1', 'Malignant_hyperthermia,_susceptibility_to,_5', 'Thyrotoxic_periodic_paralysis,_susceptibility_to,_1'] | GCCCTGCTTCCCCCCTGGACAAGTAGCTGGTCCTGATGGTTTTCCCATTCCAGGGCCCAGATGACTGCCATTGTAACAGGCTCCCAAGCCAGCCCTCCCAGCCAAGTTCCCAGACTCTAAGAAAAGAGTGGGGCTTCCCGGACTCCTCTGGGAGAAGACTCAAGCTTCTTAGATGCACAGAAGGGACTGACCCAGGACCCTGCAGGGTTGGCCAAGGGCTCGTCCTCTGGTAGCAGGCGTCTCTGTCTCTTCTGGGAACTCCCTTTCATAGTGGACACTGAAATGGAAGCAAGGCTGGGTGAACCAGAGAAGGCTGCTAG... | GCCCTGCTTCCCCCCTGGACAAGTAGCTGGTCCTGATGGTTTTCCCATTCCAGGGCCCAGATGACTGCCATTGTAACAGGCTCCCAAGCCAGCCCTCCCAGCCAAGTTCCCAGACTCTAAGAAAAGAGTGGGGCTTCCCGGACTCCTCTGGGAGAAGACTCAAGCTTCTTAGATGCACAGAAGGGACTGACCCAGGACCCTGCAGGGTTGGCCAAGGGCTCGTCCTCTGGTAGCAGGCGTCTCTGTCTCTTCTGGGAACTCCCTTTCATAGTGGACACTGAAATGGAAGCAAGGCTGGGTGAACCAGAGAAGGCTGCTAG... | pathogenic | 20,033 |
Gene mutation in CACNA1S (calcium voltage-gated channel subunit alpha1 S) at chromosome 1, position 201050976—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTCCTCACCAGTTTCCCTCTGCCTCAGTGACTCTTCCCCTCCCTGGGGCCACCCATCCCTGGCAGCTCTGGTTACCTTACAAGCTACCCGATGTGGGCAGAACTTCCCAAAGCCCAGAGGGGGCTGAATCCTTCTCAGCAGGGTCACCACGTCCAGGTGTTTGATTCTCCCCCTGCGGGAGGACACACAGACTTGTGTACCTGCTACCCTCCTCCGCTGCCAGAACCTTTCTGCTCAGAGGATGGGCAATGGGAAAGAAAGCCAGGAAACAGGGGAGCATTTCCTTATTTTCCAACTGTGTTTAGGAAGTGGGAGCCCAG... | GTCCTCACCAGTTTCCCTCTGCCTCAGTGACTCTTCCCCTCCCTGGGGCCACCCATCCCTGGCAGCTCTGGTTACCTTACAAGCTACCCGATGTGGGCAGAACTTCCCAAAGCCCAGAGGGGGCTGAATCCTTCTCAGCAGGGTCACCACGTCCAGGTGTTTGATTCTCCCCCTGCGGGAGGACACACAGACTTGTGTACCTGCTACCCTCCTCCGCTGCCAGAACCTTTCTGCTCAGAGGATGGGCAATGGGAAAGAAAGCCAGGAAACAGGGGAGCATTTCCTTATTTTCCAACTGTGTTTAGGAAGTGGGAGCCCAG... | benign | 20,077 |
Considering the variant on chromosome 1, location 201051058, involving gene CACNA1S (calcium voltage-gated channel subunit alpha1 S), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Congenital_myopathy_18', 'Hypokalemic_periodic_paralysis,_type_1', 'Malignant_hyperthermia,_susceptibility_to,_5', 'Thyrotoxic_periodic_paralysis,_susceptibility_to,_1'] | GCTACCCGATGTGGGCAGAACTTCCCAAAGCCCAGAGGGGGCTGAATCCTTCTCAGCAGGGTCACCACGTCCAGGTGTTTGATTCTCCCCCTGCGGGAGGACACACAGACTTGTGTACCTGCTACCCTCCTCCGCTGCCAGAACCTTTCTGCTCAGAGGATGGGCAATGGGAAAGAAAGCCAGGAAACAGGGGAGCATTTCCTTATTTTCCAACTGTGTTTAGGAAGTGGGAGCCCAGCTCCCTTTTAAAAGAAGAGACAATGTTAGGATTAACTGTTGTCTACAAAATGGGTACCCCAAAATAGGCTCTCTCCTTTGGC... | GCTACCCGATGTGGGCAGAACTTCCCAAAGCCCAGAGGGGGCTGAATCCTTCTCAGCAGGGTCACCACGTCCAGGTGTTTGATTCTCCCCCTGCGGGAGGACACACAGACTTGTGTACCTGCTACCCTCCTCCGCTGCCAGAACCTTTCTGCTCAGAGGATGGGCAATGGGAAAGAAAGCCAGGAAACAGGGGAGCATTTCCTTATTTTCCAACTGTGTTTAGGAAGTGGGAGCCCAGCTCCCTTTTAAAAGAAGAGACAATGTTAGGATTAACTGTTGTCTACAAAATGGGTACCCCAAAATAGGCTCTCTCCTTTGGC... | pathogenic | 20,082 |
Variant in gene CACNA1S (calcium voltage-gated channel subunit alpha1 S), located at chromosome 1 position 201059181: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATAAAATCCAAGATCATAACCATGGCCTTCAAGGGCCTAGATGATCTGGCCCCTGCCTTCTCTCTCTTACCTCATCTCCACCACTCTCTCCTCCAGCTACAAGGGCCTCCTGCTCTTCCTCAAACTCAGCAAGCACCATCCTGCTGCAGGGCCTTTGCACTGCTGTCGTGTTCTGCCAACACTCTGGCCCCCGTTCTGGCATGGCTCATGCCCTTGCTTTCTTCAGGCCTCTGCTCCAGTGTCATATGGACACCACCCTCCCATTCTCTTCCACTCTAAGCCTCTAACTCCCTTTATGTTTCTGTATAATACTATGTACT... | ATAAAATCCAAGATCATAACCATGGCCTTCAAGGGCCTAGATGATCTGGCCCCTGCCTTCTCTCTCTTACCTCATCTCCACCACTCTCTCCTCCAGCTACAAGGGCCTCCTGCTCTTCCTCAAACTCAGCAAGCACCATCCTGCTGCAGGGCCTTTGCACTGCTGTCGTGTTCTGCCAACACTCTGGCCCCCGTTCTGGCATGGCTCATGCCCTTGCTTTCTTCAGGCCTCTGCTCCAGTGTCATATGGACACCACCCTCCCATTCTCTTCCACTCTAAGCCTCTAACTCCCTTTATGTTTCTGTATAATACTATGTACT... | benign | 20,133 |
The genetic variant at chromosome 1, position 201061470, affecting gene CACNA1S (calcium voltage-gated channel subunit alpha1 S): benign or pathogenic? Disease name(s) if pathogenic? | benign | ACTTTGTTTTAGCTCAGAAAACTAGAAGCTGCTTTAGCAATCCCCTGAGTTCCGCCAAATTTTATGAACACCCTCCCCCTACCCCACCACCACAAAAGAGATAACACAGAAGGGGAGGGGCTCCAATTCCAAGTCCTGCTGAGTGCGTTCATTTACATGCAGGGCTGCAAGGCCAAAGCTCATTTACATATCTGCTTTGGGAGGACCAGGATGGCAGGTCGTCCAGGCAGGGCTCTGTAACAGGTTCTGTTTAGTCATTTGGGTACAGGACTGGGAAAGAAGACCCCTGGATTCCATAGTCCATGTTATCACTGGCTACT... | ACTTTGTTTTAGCTCAGAAAACTAGAAGCTGCTTTAGCAATCCCCTGAGTTCCGCCAAATTTTATGAACACCCTCCCCCTACCCCACCACCACAAAAGAGATAACACAGAAGGGGAGGGGCTCCAATTCCAAGTCCTGCTGAGTGCGTTCATTTACATGCAGGGCTGCAAGGCCAAAGCTCATTTACATATCTGCTTTGGGAGGACCAGGATGGCAGGTCGTCCAGGCAGGGCTCTGTAACAGGTTCTGTTTAGTCATTTGGGTACAGGACTGGGAAAGAAGACCCCTGGATTCCATAGTCCATGTTATCACTGGCTACT... | benign | 20,151 |
Chromosome 1, position 201062523, gene CACNA1S (calcium voltage-gated channel subunit alpha1 S): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CATAAGTGCCTGGTGACAAGGCCTGTGCGCAGTTCACTTCTGTATTCCATGTAGCACCTCAGCACACAGTGCACAAGAAATGTCTACTGGGGGGAATCCTGGCTATCCTGCCCTACTCATCCTGCCCTACCCAAGGCCCAGGTCCCAGTCTGATCAGACATTTTTCTCCTGGGGAGCCCTTACCTGCATGCCGAGGCAGATGGTGTTGAGCATGATGAGGGCAAACATCAGGTATTCAAAGTAGGAGGAGGTGACAATGTACCACACCTGGTACTGGTATGGGTTTTTGGGAATGTAGCACCTCAGTGGGCGGGCCTTCA... | CATAAGTGCCTGGTGACAAGGCCTGTGCGCAGTTCACTTCTGTATTCCATGTAGCACCTCAGCACACAGTGCACAAGAAATGTCTACTGGGGGGAATCCTGGCTATCCTGCCCTACTCATCCTGCCCTACCCAAGGCCCAGGTCCCAGTCTGATCAGACATTTTTCTCCTGGGGAGCCCTTACCTGCATGCCGAGGCAGATGGTGTTGAGCATGATGAGGGCAAACATCAGGTATTCAAAGTAGGAGGAGGTGACAATGTACCACACCTGGTACTGGTATGGGTTTTTGGGAATGTAGCACCTCAGTGGGCGGGCCTTCA... | benign | 20,174 |
Gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) variant at chromosome position 201062527 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGTGCCTGGTGACAAGGCCTGTGCGCAGTTCACTTCTGTATTCCATGTAGCACCTCAGCACACAGTGCACAAGAAATGTCTACTGGGGGGAATCCTGGCTATCCTGCCCTACTCATCCTGCCCTACCCAAGGCCCAGGTCCCAGTCTGATCAGACATTTTTCTCCTGGGGAGCCCTTACCTGCATGCCGAGGCAGATGGTGTTGAGCATGATGAGGGCAAACATCAGGTATTCAAAGTAGGAGGAGGTGACAATGTACCACACCTGGTACTGGTATGGGTTTTTGGGAATGTAGCACCTCAGTGGGCGGGCCTTCAGGGC... | AGTGCCTGGTGACAAGGCCTGTGCGCAGTTCACTTCTGTATTCCATGTAGCACCTCAGCACACAGTGCACAAGAAATGTCTACTGGGGGGAATCCTGGCTATCCTGCCCTACTCATCCTGCCCTACCCAAGGCCCAGGTCCCAGTCTGATCAGACATTTTTCTCCTGGGGAGCCCTTACCTGCATGCCGAGGCAGATGGTGTTGAGCATGATGAGGGCAAACATCAGGTATTCAAAGTAGGAGGAGGTGACAATGTACCACACCTGGTACTGGTATGGGTTTTTGGGAATGTAGCACCTCAGTGGGCGGGCCTTCAGGGC... | benign | 20,175 |
Determine whether the variant at chromosome 1, position 201062527, in gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGTGCCTGGTGACAAGGCCTGTGCGCAGTTCACTTCTGTATTCCATGTAGCACCTCAGCACACAGTGCACAAGAAATGTCTACTGGGGGGAATCCTGGCTATCCTGCCCTACTCATCCTGCCCTACCCAAGGCCCAGGTCCCAGTCTGATCAGACATTTTTCTCCTGGGGAGCCCTTACCTGCATGCCGAGGCAGATGGTGTTGAGCATGATGAGGGCAAACATCAGGTATTCAAAGTAGGAGGAGGTGACAATGTACCACACCTGGTACTGGTATGGGTTTTTGGGAATGTAGCACCTCAGTGGGCGGGCCTTCAGGGC... | AGTGCCTGGTGACAAGGCCTGTGCGCAGTTCACTTCTGTATTCCATGTAGCACCTCAGCACACAGTGCACAAGAAATGTCTACTGGGGGGAATCCTGGCTATCCTGCCCTACTCATCCTGCCCTACCCAAGGCCCAGGTCCCAGTCTGATCAGACATTTTTCTCCTGGGGAGCCCTTACCTGCATGCCGAGGCAGATGGTGTTGAGCATGATGAGGGCAAACATCAGGTATTCAAAGTAGGAGGAGGTGACAATGTACCACACCTGGTACTGGTATGGGTTTTTGGGAATGTAGCACCTCAGTGGGCGGGCCTTCAGGGC... | benign | 20,176 |
The chromosome 1, position 201065878 genetic variant in gene CACNA1S (calcium voltage-gated channel subunit alpha1 S): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypokalemic_periodic_paralysis,_type_1', 'Malignant_hyperthermia,_susceptibility_to,_5', 'Thyrotoxic_periodic_paralysis,_susceptibility_to,_1'] | GAGAGTGGATAGAGCTGCCACTGGGCAGGGTCTGGGCACTTAACACCAAATGCCCAGTTTACTATGGAAAGCAAAGCTTGACTCTGCTATAATGTGGAATGCACGTGGTGTTTCCACAGAGTCAAAAGCGACATCAAATGCCAACTGGAACTGTTATGCTTCTAGAACCTCCTGGAAGGCAGGAGCTGGGGGTCTTTTAATGAGAGACAAAAGCATGGCGAGAGTTGGGTGTTGACAAGCAATTGCTCTTGCTTGTCTGGAAGGGACGTGGAAGCCAAAGGGAGGGCAGCGGCTCATTCATTCCTTCAGGGAGCGTGTCT... | GAGAGTGGATAGAGCTGCCACTGGGCAGGGTCTGGGCACTTAACACCAAATGCCCAGTTTACTATGGAAAGCAAAGCTTGACTCTGCTATAATGTGGAATGCACGTGGTGTTTCCACAGAGTCAAAAGCGACATCAAATGCCAACTGGAACTGTTATGCTTCTAGAACCTCCTGGAAGGCAGGAGCTGGGGGTCTTTTAATGAGAGACAAAAGCATGGCGAGAGTTGGGTGTTGACAAGCAATTGCTCTTGCTTGTCTGGAAGGGACGTGGAAGCCAAAGGGAGGGCAGCGGCTCATTCATTCCTTCAGGGAGCGTGTCT... | pathogenic | 20,180 |
A genetic variant on chromosome 1, position 201065958, affects the gene CACNA1S (calcium voltage-gated channel subunit alpha1 S). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ACTCTGCTATAATGTGGAATGCACGTGGTGTTTCCACAGAGTCAAAAGCGACATCAAATGCCAACTGGAACTGTTATGCTTCTAGAACCTCCTGGAAGGCAGGAGCTGGGGGTCTTTTAATGAGAGACAAAAGCATGGCGAGAGTTGGGTGTTGACAAGCAATTGCTCTTGCTTGTCTGGAAGGGACGTGGAAGCCAAAGGGAGGGCAGCGGCTCATTCATTCCTTCAGGGAGCGTGTCTGGTGGGCCTCCTCTGCACCAGGCCCTGGGCAGGGGGCCAGGCAAAGGGATGAGGCAGACACAGACACTGCCCTCAGGGGA... | ACTCTGCTATAATGTGGAATGCACGTGGTGTTTCCACAGAGTCAAAAGCGACATCAAATGCCAACTGGAACTGTTATGCTTCTAGAACCTCCTGGAAGGCAGGAGCTGGGGGTCTTTTAATGAGAGACAAAAGCATGGCGAGAGTTGGGTGTTGACAAGCAATTGCTCTTGCTTGTCTGGAAGGGACGTGGAAGCCAAAGGGAGGGCAGCGGCTCATTCATTCCTTCAGGGAGCGTGTCTGGTGGGCCTCCTCTGCACCAGGCCCTGGGCAGGGGGCCAGGCAAAGGGATGAGGCAGACACAGACACTGCCCTCAGGGGA... | benign | 20,185 |
Benign or pathogenic: chromosome 1, position 201074717, gene CACNA1S (calcium voltage-gated channel subunit alpha1 S) variant? Disease(s) if pathogenic? | benign | GAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTGGGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCA... | GAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTGGGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCA... | benign | 20,264 |
Considering the genetic mutation at chromosome 1, position 201078083, impacting CACNA1S (calcium voltage-gated channel subunit alpha1 S): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypokalemic_periodic_paralysis,_type_1', 'Malignant_hyperthermia,_susceptibility_to,_5', 'Thyrotoxic_periodic_paralysis,_susceptibility_to,_1'] | TCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTG... | TCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTG... | pathogenic | 20,321 |
A genetic variant on chromosome 1, position 201083182, affects the gene CACNA1S (calcium voltage-gated channel subunit alpha1 S). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATGACAGTGCCAGTTCCCACCTCATGCAGGTCCAGGGCCCTGTCTCCAGCCCTGCACAGGCCTTAGGAACCCAGCTGCTACCCATTAGGGTTTAGGCCTAGGCCTAAAATGTCCTTGGAAGTCAGTTCACAAGCTCGCTGCTCTGGCTTTGGGTCACTTCTTTGTTTCTGCCACTAAAAGACTTCCTTTTCATTCCAGGAAACATCATTCTTATGCCTTATGCAGCAGTGTTACTTGTTTGTAGTGGGGAGGGCACTGAGTTTGTCCACCGTGTTGTTGGAACTGGTCAGTCTTTTCTCGTATCCTACTCGTCTCACGGT... | ATGACAGTGCCAGTTCCCACCTCATGCAGGTCCAGGGCCCTGTCTCCAGCCCTGCACAGGCCTTAGGAACCCAGCTGCTACCCATTAGGGTTTAGGCCTAGGCCTAAAATGTCCTTGGAAGTCAGTTCACAAGCTCGCTGCTCTGGCTTTGGGTCACTTCTTTGTTTCTGCCACTAAAAGACTTCCTTTTCATTCCAGGAAACATCATTCTTATGCCTTATGCAGCAGTGTTACTTGTTTGTAGTGGGGAGGGCACTGAGTTTGTCCACCGTGTTGTTGGAACTGGTCAGTCTTTTCTCGTATCCTACTCGTCTCACGGT... | benign | 20,334 |
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