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 |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 18 at position 9122506, within the gene NDUFV2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGCATTTTCTACTTGACTGACTATAACAGAGATTTTGTTGTACTTCATTCTTACCACTTTCTAAACTTAATTTGGTTATAACTCTTAGGCTAGACAATCATCTTTCTGAGAGAATAGGAATGTCCTCAATTTATCTAATAGAATCCTAAATGCAAATTTTAGATTTAGTTTATTGATATTTTATTTTATTTGCATTGTATAGTACTATAACACTGGTTTTTCCCTATGAAAAATATTATAAAGCAAGTTTAGTGAGTTACTATCCTGAGTAAACATAGGTGGTTATTTCTTCGATAAATTATGTATTTCTTGGGAAGTTA... | TGCATTTTCTACTTGACTGACTATAACAGAGATTTTGTTGTACTTCATTCTTACCACTTTCTAAACTTAATTTGGTTATAACTCTTAGGCTAGACAATCATCTTTCTGAGAGAATAGGAATGTCCTCAATTTATCTAATAGAATCCTAAATGCAAATTTTAGATTTAGTTTATTGATATTTTATTTTATTTGCATTGTATAGTACTATAACACTGGTTTTTCCCTATGAAAAATATTATAAAGCAAGTTTAGTGAGTTACTATCCTGAGTAAACATAGGTGGTTATTTCTTCGATAAATTATGTATTTCTTGGGAAGTTA... | benign | 287,487 |
A genetic variant on chromosome 18, position 10671602, affects the gene PIEZO2 (piezo type mechanosensitive ion channel component 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arthrogryposis-_oculomotor_limitation-electroretinal_anomalies_syndrome', 'Distal_arthrogryposis', 'Gordon_syndrome', 'Inborn_genetic_diseases'] | TGGCATTCTCTGTGTGATTTCCAGTCCAGCACACGCAATTCTGGAAGGAGTGCCCTTTTTGGCCGGCACTCTTTCCTGCAATATGTTCCTCTCAACGCATCTGGAGGCTTTTGCCTGACACCCTGGAAACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAAT... | TGGCATTCTCTGTGTGATTTCCAGTCCAGCACACGCAATTCTGGAAGGAGTGCCCTTTTTGGCCGGCACTCTTTCCTGCAATATGTTCCTCTCAACGCATCTGGAGGCTTTTGCCTGACACCCTGGAAACTGTTTTCTTGAGGAATATTTCAATTCTGGTATCCTCTGATCTTTACGTTTTCTTCTCATGAGCATTTTCCTATGCCTAATCTTTTCTAAATGAGCTACAATTTGCTTTCTGGAAATTCCTTGTTGACTTTTTTTAAAAGAAAGAACTCACAACCAGATATGCACCATGATTCTTTCTGCTGTTGGGAAAT... | pathogenic | 287,518 |
Variant in PIEZO2 (piezo type mechanosensitive ion channel component 2), chromosome 18, position 10677883—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAGTCTCATGAAATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACGTGCTCCCTTGCCCACCGCCATGTAAGATGTGCCTTTACTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTGTGAGTCAATTCAACCTCTTTCCTTTATAAATTACCCAGTCTCAGGTATGTGTTTATTAGCGGTATGAGAATGGACTAATACACAAGTAGACTTCATGAATTGATCTAGAGGGGAGTGAGAGGTGAAGAGAGATGGTGGCCTGGACCTCGAGTGACCTCTGCCTCCCACAAGCCCAGTGCCT... | AAGTCTCATGAAATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACGTGCTCCCTTGCCCACCGCCATGTAAGATGTGCCTTTACTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTGTGAGTCAATTCAACCTCTTTCCTTTATAAATTACCCAGTCTCAGGTATGTGTTTATTAGCGGTATGAGAATGGACTAATACACAAGTAGACTTCATGAATTGATCTAGAGGGGAGTGAGAGGTGAAGAGAGATGGTGGCCTGGACCTCGAGTGACCTCTGCCTCCCACAAGCCCAGTGCCT... | benign | 287,527 |
Does the variant impacting PIEZO2 (piezo type mechanosensitive ion channel component 2) on chromosome 18, position 10699004, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Gordon_syndrome'] | AAGGTGGGAAGTAAATGAGGGAATGCATGAGGGCGCTCAGACTTGGAGTGCTTGGTCCATGCGCGTTTGAATGTGCAACGCCCCTGCTCCTCCTGTTTTAGGGCCTGTGTCCATGCTGGCTCCCACATACTCCCCTGGCCTTTTATCTATGCTTTGCTCTGTGCCTTAGTGTGGTGTCCTGTTGGCTCTTGCTTGTCTGTCTAACCTTTGCCCTATCTTTGCTCTGGGACCTGCCTTCAGTTCAACGCCACGTTCAGGTGCCACTGGCTCTCCTGCTCTCAGAGCCTCTGTCCAGGGCTCCACTCCCAGCTGGCAGTCCC... | AAGGTGGGAAGTAAATGAGGGAATGCATGAGGGCGCTCAGACTTGGAGTGCTTGGTCCATGCGCGTTTGAATGTGCAACGCCCCTGCTCCTCCTGTTTTAGGGCCTGTGTCCATGCTGGCTCCCACATACTCCCCTGGCCTTTTATCTATGCTTTGCTCTGTGCCTTAGTGTGGTGTCCTGTTGGCTCTTGCTTGTCTGTCTAACCTTTGCCCTATCTTTGCTCTGGGACCTGCCTTCAGTTCAACGCCACGTTCAGGTGCCACTGGCTCTCCTGCTCTCAGAGCCTCTGTCCAGGGCTCCACTCCCAGCTGGCAGTCCC... | pathogenic | 287,556 |
Clinical significance of chromosome 18, position 10736640, gene PIEZO2 (piezo type mechanosensitive ion channel component 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arthrogryposis,_distal,_with_impaired_proprioception_and_touch', 'FAM38B-related_disorder'] | TTTTCCGTAACGAAGCGACTACAGCATAGGTAGCTGAATAACTTCAACTGTGCATTAGGTTAATCAACAAATAATTTTTGACAGTGTACTCAAAAGCCCTAGCATGGATCTGTGGGATTGAGGAGCCCGCAGACTGCACTGGGTGGATCAGCCCAGGAAGAAGCTGGCTGTACCGAGTGCAGAAACTGGAAGACGGAGACTGAAAGGGACCCGAATGAGAGACGGAGTAAAAGACATCTTTTATTAGCTTATCCAGAATTTTACCAGCTTTCTGAGAAAAATTATCACCCTTTTTACTCATCAGAACTGATTCATGCAAC... | TTTTCCGTAACGAAGCGACTACAGCATAGGTAGCTGAATAACTTCAACTGTGCATTAGGTTAATCAACAAATAATTTTTGACAGTGTACTCAAAAGCCCTAGCATGGATCTGTGGGATTGAGGAGCCCGCAGACTGCACTGGGTGGATCAGCCCAGGAAGAAGCTGGCTGTACCGAGTGCAGAAACTGGAAGACGGAGACTGAAAGGGACCCGAATGAGAGACGGAGTAAAAGACATCTTTTATTAGCTTATCCAGAATTTTACCAGCTTTCTGAGAAAAATTATCACCCTTTTTACTCATCAGAACTGATTCATGCAAC... | pathogenic | 287,604 |
Chromosome 18, position 10758111, gene PIEZO2 (piezo type mechanosensitive ion channel component 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases'] | TGGGGATAAGGATAAAGGATGGAGGATGAAGAGGAGAGATAGGGGATGAGGAGGAAAGATGGAGGATGAGGAGGAGGGATGGAGGATGAGAAAGAAATGGAAGAGAAGGAGGGATGAGGATGAGGCAGAGGCAAAGGGGATAAGGAGGAGGGATGGGAGACAAGGATAAGCTATGAAGATGAGGGATAAAGGATGAGAATGAGGGATGGAGATGAAGAGGAGGGATGCAGGATGAGAAGGAGAAATGGAGGATGAAGAGGAAGGATGGGGATGAGTAGTAGAAATGGGGAATAAGAATGAGCTATGGGGATGTAGATAAA... | TGGGGATAAGGATAAAGGATGGAGGATGAAGAGGAGAGATAGGGGATGAGGAGGAAAGATGGAGGATGAGGAGGAGGGATGGAGGATGAGAAAGAAATGGAAGAGAAGGAGGGATGAGGATGAGGCAGAGGCAAAGGGGATAAGGAGGAGGGATGGGAGACAAGGATAAGCTATGAAGATGAGGGATAAAGGATGAGAATGAGGGATGGAGATGAAGAGGAGGGATGCAGGATGAGAAGGAGAAATGGAGGATGAAGAGGAAGGATGGGGATGAGTAGTAGAAATGGGGAATAAGAATGAGCTATGGGGATGTAGATAAA... | pathogenic | 287,620 |
For chromosome 18, position 10759479, gene PIEZO2: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Arthrogryposis,_distal,_with_impaired_proprioception_and_touch'] | GGGTGAGGAGGAAGGGTGGGGATAAGAATGAGCTATGGGGATGAAGATGAAAAATGGAGGATGAGTAGGAGAGACAGAAGATGAGGAGGAGGGATGGGGATGAGGATGAGCTATGGGGATGAGGATGAGCTATGGGGATGAGGATGAGGGATGAAAGATAAGGAAGAAAGATGGGGGATGAGGAAGAGGGAGGAAAGATGAGGATGAGCTATGGGGATGCAGAGGAGGGATAAGAGATGAGCAGGAGGACCCTCCACTGGAGAGCTGGTATTACTGGCACAAGTCAGTTTTGGTATGAAGAAGAGGAGGAGAACTGAGGC... | GGGTGAGGAGGAAGGGTGGGGATAAGAATGAGCTATGGGGATGAAGATGAAAAATGGAGGATGAGTAGGAGAGACAGAAGATGAGGAGGAGGGATGGGGATGAGGATGAGCTATGGGGATGAGGATGAGCTATGGGGATGAGGATGAGGGATGAAAGATAAGGAAGAAAGATGGGGGATGAGGAAGAGGGAGGAAAGATGAGGATGAGCTATGGGGATGCAGAGGAGGGATAAGAGATGAGCAGGAGGACCCTCCACTGGAGAGCTGGTATTACTGGCACAAGTCAGTTTTGGTATGAAGAAGAGGAGGAGAACTGAGGC... | pathogenic | 287,624 |
Evaluate the clinical significance of the mutation at chromosome 18, position 10784735 in gene PIEZO2 (piezo type mechanosensitive ion channel component 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCAAGTCAGGACTCATATCGGTACAGATCATTTAGATCTTTCTTCTCTGCCATGGGGTGCAGGGTAAGGGCTGTGAAGCGGCAGCTGAGGAAACATAGAACCTACATCTTGACGTGGGCTGCAGTCTTTCCCCAGAACCTGCATAGGCTAAACACTGCTATACACGCTTAAAGGGAATTCTGTGGGACCTTAATTCAGTTTTCACATACGCTAGGTCCAAACCTTGGGAGTCTCTAGGCTGGTGAACCAAATTGTCTTCTGCAAAACTGTGGTCCTGCATGTTTCTACTTTTCTGGATAAATGGTGAATTATATCTCTGT... | GCAAGTCAGGACTCATATCGGTACAGATCATTTAGATCTTTCTTCTCTGCCATGGGGTGCAGGGTAAGGGCTGTGAAGCGGCAGCTGAGGAAACATAGAACCTACATCTTGACGTGGGCTGCAGTCTTTCCCCAGAACCTGCATAGGCTAAACACTGCTATACACGCTTAAAGGGAATTCTGTGGGACCTTAATTCAGTTTTCACATACGCTAGGTCCAAACCTTGGGAGTCTCTAGGCTGGTGAACCAAATTGTCTTCTGCAAAACTGTGGTCCTGCATGTTTCTACTTTTCTGGATAAATGGTGAATTATATCTCTGT... | benign | 287,653 |
The mutation in gene PIEZO2 (piezo type mechanosensitive ion channel component 2) at chromosome 18, position 10787201—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACCTTGACATTCCCAAATTCCAGGACTATTTCTTCAGCTTTATTTAATTAAACCTCTGGTCCTCCTTGAAGCAAGTGTGGTCTTGACACCATCACACTCTCTTGGTTTCTTGTTCCTCCATGATCTCCCCCTTTTCTATTGGACCTCTAGAGGCTGAAATTTCCCCAGGACTCTGTTTTGATCTCTCTTCCAGCTGTGCTTTCCCCCTAGGGAAATCCTCTTCTGTGGATTTACACATCATCCTTACACCAAGGACTCAAAGTGCATCTACAGCGCAGGCTCCTCCTGTAAGATTCTCGTGCCCAAATTGCTACTGGAAA... | ACCTTGACATTCCCAAATTCCAGGACTATTTCTTCAGCTTTATTTAATTAAACCTCTGGTCCTCCTTGAAGCAAGTGTGGTCTTGACACCATCACACTCTCTTGGTTTCTTGTTCCTCCATGATCTCCCCCTTTTCTATTGGACCTCTAGAGGCTGAAATTTCCCCAGGACTCTGTTTTGATCTCTCTTCCAGCTGTGCTTTCCCCCTAGGGAAATCCTCTTCTGTGGATTTACACATCATCCTTACACCAAGGACTCAAAGTGCATCTACAGCGCAGGCTCCTCCTGTAAGATTCTCGTGCCCAAATTGCTACTGGAAA... | benign | 287,659 |
The mutation impacting PIEZO2 (piezo type mechanosensitive ion channel component 2) on chromosome 18 at position 10787201: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACCTTGACATTCCCAAATTCCAGGACTATTTCTTCAGCTTTATTTAATTAAACCTCTGGTCCTCCTTGAAGCAAGTGTGGTCTTGACACCATCACACTCTCTTGGTTTCTTGTTCCTCCATGATCTCCCCCTTTTCTATTGGACCTCTAGAGGCTGAAATTTCCCCAGGACTCTGTTTTGATCTCTCTTCCAGCTGTGCTTTCCCCCTAGGGAAATCCTCTTCTGTGGATTTACACATCATCCTTACACCAAGGACTCAAAGTGCATCTACAGCGCAGGCTCCTCCTGTAAGATTCTCGTGCCCAAATTGCTACTGGAAA... | ACCTTGACATTCCCAAATTCCAGGACTATTTCTTCAGCTTTATTTAATTAAACCTCTGGTCCTCCTTGAAGCAAGTGTGGTCTTGACACCATCACACTCTCTTGGTTTCTTGTTCCTCCATGATCTCCCCCTTTTCTATTGGACCTCTAGAGGCTGAAATTTCCCCAGGACTCTGTTTTGATCTCTCTTCCAGCTGTGCTTTCCCCCTAGGGAAATCCTCTTCTGTGGATTTACACATCATCCTTACACCAAGGACTCAAAGTGCATCTACAGCGCAGGCTCCTCCTGTAAGATTCTCGTGCCCAAATTGCTACTGGAAA... | benign | 287,660 |
Gene PIEZO2 (piezo type mechanosensitive ion channel component 2) variant at chromosome position 10979541 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arthrogryposis,_distal,_with_impaired_proprioception_and_touch'] | TGGTTAATAAGCACTGTATCATATAAGATAATACTACTACTAACATTATTGTTGCTAACATTTCTATTAAGTCCCAAAAGATGTGAACCTGGTGAAATATAATAAATGCTCTTTATCAAGATAACATAACCAAAGTACCCTTATTTAAACACTGTGTTTCATCAAGATTTTAATAATGGGATAACATGTGGTTTTTAATCAAACATTAAAATCGCATTTTAACAATTGAATATTATACAGCCAAGAAAAGGGTTAAAGTATTGATACATGCTACAACATTGACAAATCTTGAAAACTTTATGCTAAATTAAGGAAGTCAT... | TGGTTAATAAGCACTGTATCATATAAGATAATACTACTACTAACATTATTGTTGCTAACATTTCTATTAAGTCCCAAAAGATGTGAACCTGGTGAAATATAATAAATGCTCTTTATCAAGATAACATAACCAAAGTACCCTTATTTAAACACTGTGTTTCATCAAGATTTTAATAATGGGATAACATGTGGTTTTTAATCAAACATTAAAATCGCATTTTAACAATTGAATATTATACAGCCAAGAAAAGGGTTAAAGTATTGATACATGCTACAACATTGACAAATCTTGAAAACTTTATGCTAAATTAAGGAAGTCAT... | pathogenic | 287,697 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 11689670, gene GNAL (G protein subunit alpha L). What disease(s) is it linked to if pathogenic? | benign | TATGATTGAGTATATTTCTACCTCATTAGTCTATAAATTCCATGAGGACCCCTGTCTTTGCCTCACCCAGCACCAACAAGAATGCCTAGGGTACTGTAGGCACTTAATTAAATGGATGAATGGATAAATGGATAGATGGATGAGTGAATGAATAGCGAAAATGACAGTGATATTTAGTAACTTTTTCTATTTTCCCAAGTTAGATTTTCTATAGTCCTCCTTTCTTTTGCTCAAATATCTAAAAGTATGCCATAATTTTAGCAAAATTTGGGGAACAATGTTAGGTCAAAAGTAGTACATGTATGCACATTTGTTATCAG... | TATGATTGAGTATATTTCTACCTCATTAGTCTATAAATTCCATGAGGACCCCTGTCTTTGCCTCACCCAGCACCAACAAGAATGCCTAGGGTACTGTAGGCACTTAATTAAATGGATGAATGGATAAATGGATAGATGGATGAGTGAATGAATAGCGAAAATGACAGTGATATTTAGTAACTTTTTCTATTTTCCCAAGTTAGATTTTCTATAGTCCTCCTTTCTTTTGCTCAAATATCTAAAAGTATGCCATAATTTTAGCAAAATTTGGGGAACAATGTTAGGTCAAAAGTAGTACATGTATGCACATTTGTTATCAG... | benign | 287,709 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 12367394, gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). What disease(s) is it linked to if pathogenic? | benign | GCAATGACCACTGCTTCTGAGCAGCTTCTGAGTGGGAGTCCCCACTACATCTGAGAATTACACATATAAGATCCTCACTTTCATAAGATAAACATGTTTCAAAAATCCAACTAGATAAAAGGACTCTGGAAGATGGTGGCATAAGGAAGCACCAGGAACCCATCTCCCTACGCACAGGACAATGGTACAGGCAGGATCTGTCCGATGTAAGCATTTTGGAATTCTGGAGTCCACTGAAGGTTTCCAACTTCCAGGGGAAACATAAACTGAAGTTAATCTCAGTCAACTTCAGCTCTTAGCACAGTAGCAGCTGCTCATTT... | GCAATGACCACTGCTTCTGAGCAGCTTCTGAGTGGGAGTCCCCACTACATCTGAGAATTACACATATAAGATCCTCACTTTCATAAGATAAACATGTTTCAAAAATCCAACTAGATAAAAGGACTCTGGAAGATGGTGGCATAAGGAAGCACCAGGAACCCATCTCCCTACGCACAGGACAATGGTACAGGCAGGATCTGTCCGATGTAAGCATTTTGGAATTCTGGAGTCCACTGAAGGTTTCCAACTTCCAGGGGAAACATAAACTGAAGTTAATCTCAGTCAACTTCAGCTCTTAGCACAGTAGCAGCTGCTCATTT... | benign | 287,805 |
Regarding the variant at chromosome 18 and position 12370931, affecting gene AFG3L2 (AFG3 like matrix AAA peptidase subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGAGCCACCGCACCCGGACCGAATACACTTCTAATGTCTTCAGTGACCATGAAGCAACCCCTCTAGTGTAGCAGGATGGGAGGCTACAGGCACCCGGTCATCCTCAGTGGCTATGTAACATGTGGCTTCATGACACATTCACTCCGCTATGCTGCATACGAGGGGCTTCTGCACCTCTGTCTCGAGTGGAGTCTGAGACAGGTATGATATGCACAAGCCTCAGCCCCCAGAATGAGGCCCAGGACTAAAAAACACGCAGTAAGCACACCACTAAAGCTGTGCAACACTCCAAACCACTCAGGGAGAAAGGAATGTCCACA... | TGAGCCACCGCACCCGGACCGAATACACTTCTAATGTCTTCAGTGACCATGAAGCAACCCCTCTAGTGTAGCAGGATGGGAGGCTACAGGCACCCGGTCATCCTCAGTGGCTATGTAACATGTGGCTTCATGACACATTCACTCCGCTATGCTGCATACGAGGGGCTTCTGCACCTCTGTCTCGAGTGGAGTCTGAGACAGGTATGATATGCACAAGCCTCAGCCCCCAGAATGAGGCCCAGGACTAAAAAACACGCAGTAAGCACACCACTAAAGCTGTGCAACACTCCAAACCACTCAGGGAGAAAGGAATGTCCACA... | benign | 287,809 |
The mutation in gene MC2R (melanocortin 2 receptor) at chromosome 18, position 13884830—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glucocorticoid_deficiency_1'] | ACACTTTTAAAAATTAGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTGCCTTGCCTCCTTTGCTTCTGAAGTTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTG... | ACACTTTTAAAAATTAGTTCTAGGGTTGTGCTTTAGATTTCATGAAAAATTAACTTATATATATCTCATATATTAATTAATACAGGTTAGTATTAGAGTAACATAGTTCATTTGGCAGGGGAAGGATCAAACAGGGAAGGATTTCTACAGAACAGAGGACAAGAAGGTGCACCTTTCACCTCCATCTGTGGGACAGGCCATGTGAAAGCACGCCTGCCACTGTCCTCACTTGACTCCAGCTGCCTTGCCTCCTTTGCTTCTGAAGTTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTG... | pathogenic | 287,855 |
Does the variant on chromosome 18 at location 13885059 affecting gene MC2R (melanocortin 2 receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Glucocorticoid_Deficiency', 'Glucocorticoid_deficiency_1'] | TTGACTCCAGCTGCCTTGCCTCCTTTGCTTCTGAAGTTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAA... | TTGACTCCAGCTGCCTTGCCTCCTTTGCTTCTGAAGTTCCTGTCCCTGCCACTTCTAATATCAAACCCATCACCAAATGGTCTGTCCTGTGTGTGGCTGTCTTCTCCCCTCAGCAGCTCTGGGAAATTCTCCTGAGGGCAAAGCATTGCCTGTTCTGGAAGATACCATCCATCCTGCAGATCCTGAGCCTGGTGGCCTCTGAAGCCCCACTGCTCTCCTCTGTCCCTTTCACCTTTCACCCCATTCAAGTCACCCTCCAACTTAGTGGGGACTTACAATCAGGATGTGCTTCTCCTTTAAGCTGATTTTTAGCTATTAAA... | pathogenic | 287,856 |
Variant in GATA6 (GATA binding protein 6), chromosome 18, position 22172111—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGGAGGAGGCCAGCCCGGCTGCATTTCACCTCCCTCCCCCACTCGCTCCGAGTCTCCCTGTCATTCTTCCTGCTCTCCCATTTGGGGTCGCCTCGGCTCTGGGGCGGTCTCACGCTCCCCCCTCCCCAGCCCGTTGCGTTCCCCCTCCTTTTCTCTGCTCTCCGCTCCACCCCGCTACGTCCGATTCCGGAACGGTCCGGCGTTTCTGCTGCTGGAGATGACCGCGGGGTGGGCCGGGTGGCCCGGCCGGCGTGAGCGCGCACGCTGGTGGCTGCAGGCGCGGGCCGTGTCTAAGGTGTGCGGCGCCGCGGGGACGCCGG... | TGGAGGAGGCCAGCCCGGCTGCATTTCACCTCCCTCCCCCACTCGCTCCGAGTCTCCCTGTCATTCTTCCTGCTCTCCCATTTGGGGTCGCCTCGGCTCTGGGGCGGTCTCACGCTCCCCCCTCCCCAGCCCGTTGCGTTCCCCCTCCTTTTCTCTGCTCTCCGCTCCACCCCGCTACGTCCGATTCCGGAACGGTCCGGCGTTTCTGCTGCTGGAGATGACCGCGGGGTGGGCCGGGTGGCCCGGCCGGCGTGAGCGCGCACGCTGGTGGCTGCAGGCGCGGGCCGTGTCTAAGGTGTGCGGCGCCGCGGGGACGCCGG... | benign | 287,955 |
Located at chromosome 18 position 22172111, the variant affecting gene GATA6 (GATA binding protein 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGGAGGAGGCCAGCCCGGCTGCATTTCACCTCCCTCCCCCACTCGCTCCGAGTCTCCCTGTCATTCTTCCTGCTCTCCCATTTGGGGTCGCCTCGGCTCTGGGGCGGTCTCACGCTCCCCCCTCCCCAGCCCGTTGCGTTCCCCCTCCTTTTCTCTGCTCTCCGCTCCACCCCGCTACGTCCGATTCCGGAACGGTCCGGCGTTTCTGCTGCTGGAGATGACCGCGGGGTGGGCCGGGTGGCCCGGCCGGCGTGAGCGCGCACGCTGGTGGCTGCAGGCGCGGGCCGTGTCTAAGGTGTGCGGCGCCGCGGGGACGCCGG... | TGGAGGAGGCCAGCCCGGCTGCATTTCACCTCCCTCCCCCACTCGCTCCGAGTCTCCCTGTCATTCTTCCTGCTCTCCCATTTGGGGTCGCCTCGGCTCTGGGGCGGTCTCACGCTCCCCCCTCCCCAGCCCGTTGCGTTCCCCCTCCTTTTCTCTGCTCTCCGCTCCACCCCGCTACGTCCGATTCCGGAACGGTCCGGCGTTTCTGCTGCTGGAGATGACCGCGGGGTGGGCCGGGTGGCCCGGCCGGCGTGAGCGCGCACGCTGGTGGCTGCAGGCGCGGGCCGTGTCTAAGGTGTGCGGCGCCGCGGGGACGCCGG... | benign | 287,956 |
The mutation impacting GATA6 (GATA binding protein 6) on chromosome 18 at position 22172140: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTCCCTCCCCCACTCGCTCCGAGTCTCCCTGTCATTCTTCCTGCTCTCCCATTTGGGGTCGCCTCGGCTCTGGGGCGGTCTCACGCTCCCCCCTCCCCAGCCCGTTGCGTTCCCCCTCCTTTTCTCTGCTCTCCGCTCCACCCCGCTACGTCCGATTCCGGAACGGTCCGGCGTTTCTGCTGCTGGAGATGACCGCGGGGTGGGCCGGGTGGCCCGGCCGGCGTGAGCGCGCACGCTGGTGGCTGCAGGCGCGGGCCGTGTCTAAGGTGTGCGGCGCCGCGGGGACGCCGGTGGGGCTGGCGATTCCCGCCCCACAAGCT... | CTCCCTCCCCCACTCGCTCCGAGTCTCCCTGTCATTCTTCCTGCTCTCCCATTTGGGGTCGCCTCGGCTCTGGGGCGGTCTCACGCTCCCCCCTCCCCAGCCCGTTGCGTTCCCCCTCCTTTTCTCTGCTCTCCGCTCCACCCCGCTACGTCCGATTCCGGAACGGTCCGGCGTTTCTGCTGCTGGAGATGACCGCGGGGTGGGCCGGGTGGCCCGGCCGGCGTGAGCGCGCACGCTGGTGGCTGCAGGCGCGGGCCGTGTCTAAGGTGTGCGGCGCCGCGGGGACGCCGGTGGGGCTGGCGATTCCCGCCCCACAAGCT... | benign | 287,957 |
Regarding the variant found on chromosome 18 at position 22984837 in gene RBBP8 (RB binding protein 8, endonuclease): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTCGTAACAGGCTTGTGAGATAACTATCAGCTCTTTTGTTTTATAGATGAGGAAAGATATGTTTAGAAAGGTTAACTCACTCAAGGTCAGCTATTATGTAGATGAGTCAAAATTCAAATACAGATCTTCTTAGCTCTGAACTTTCCTACTCTCCAGGTCTTGCCACATGGGTACTCCTGCCATTGGAGCTGTCTGTAACTGGCTATTTTTATTTGTTGTAATTTGTAGGAGTTAGTGGTAATCAAGAAATGGTGTTATAATATGTACACTTTGTGGCTTTTCAGTGACATGTTTCTAATTCCAGCCTAGTTTATCATTTC... | CTCGTAACAGGCTTGTGAGATAACTATCAGCTCTTTTGTTTTATAGATGAGGAAAGATATGTTTAGAAAGGTTAACTCACTCAAGGTCAGCTATTATGTAGATGAGTCAAAATTCAAATACAGATCTTCTTAGCTCTGAACTTTCCTACTCTCCAGGTCTTGCCACATGGGTACTCCTGCCATTGGAGCTGTCTGTAACTGGCTATTTTTATTTGTTGTAATTTGTAGGAGTTAGTGGTAATCAAGAAATGGTGTTATAATATGTACACTTTGTGGCTTTTCAGTGACATGTTTCTAATTCCAGCCTAGTTTATCATTTC... | benign | 287,990 |
Does the chromosome 18 mutation at position 22992898 within gene RBBP8 (RB binding protein 8, endonuclease) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Inborn_genetic_diseases'] | ACATCATAACATATATCAGTACTTCATCCCTTTTTAAGAATGAACAAATCCCATTACATGGATGTGCTTCATATTTTACTCTTGAAGGAAACTCAAGGTCCCATGAGCCCCCTTGGTGATGAGCTCTACCACTGTCTGGAAGGAAATCACAAGAAACAGCCTTTTGAGGAATCTACAAGAAATACTGAAGATAGTTTAAGGTAATTAAGGGCACGTTGGTGAAAACTGATAAGCTATTGGTGAGATCCCATTACAATGAATTTCATATAATTAAGCCATTTCTCTCCTTCAACATATAGTTTGTTATTGTGGTTATATAA... | ACATCATAACATATATCAGTACTTCATCCCTTTTTAAGAATGAACAAATCCCATTACATGGATGTGCTTCATATTTTACTCTTGAAGGAAACTCAAGGTCCCATGAGCCCCCTTGGTGATGAGCTCTACCACTGTCTGGAAGGAAATCACAAGAAACAGCCTTTTGAGGAATCTACAAGAAATACTGAAGATAGTTTAAGGTAATTAAGGGCACGTTGGTGAAAACTGATAAGCTATTGGTGAGATCCCATTACAATGAATTTCATATAATTAAGCCATTTCTCTCCTTCAACATATAGTTTGTTATTGTGGTTATATAA... | pathogenic | 287,996 |
Determine if the mutation at chromosome 18, position 23533363 in gene NPC1 (NPC intracellular cholesterol transporter 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | AGTTATACAACCTAAGACATCATCTTTAGGATAGGGAAGGATCAGGGCTGTCTAATGAAACTTCTAGGTCTATTTCTAGCTCAATGTAAGACGGCATTTAGTTACCATAAGGACAGGTTAGATAGAATCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTG... | AGTTATACAACCTAAGACATCATCTTTAGGATAGGGAAGGATCAGGGCTGTCTAATGAAACTTCTAGGTCTATTTCTAGCTCAATGTAAGACGGCATTTAGTTACCATAAGGACAGGTTAGATAGAATCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTG... | pathogenic | 288,021 |
Variant at chromosome 18, position 23533373, gene NPC1 (NPC intracellular cholesterol transporter 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Niemann-Pick_disease,_type_C1'] | CCTAAGACATCATCTTTAGGATAGGGAAGGATCAGGGCTGTCTAATGAAACTTCTAGGTCTATTTCTAGCTCAATGTAAGACGGCATTTAGTTACCATAAGGACAGGTTAGATAGAATCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACAT... | CCTAAGACATCATCTTTAGGATAGGGAAGGATCAGGGCTGTCTAATGAAACTTCTAGGTCTATTTCTAGCTCAATGTAAGACGGCATTTAGTTACCATAAGGACAGGTTAGATAGAATCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACAT... | pathogenic | 288,022 |
Variant in NPC1 (NPC intracellular cholesterol transporter 1), chromosome 18, position 23533446—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | ATGTAAGACGGCATTTAGTTACCATAAGGACAGGTTAGATAGAATCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGT... | ATGTAAGACGGCATTTAGTTACCATAAGGACAGGTTAGATAGAATCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGT... | pathogenic | 288,025 |
Classify the chromosome 18 variant at position 23533490 affecting gene NPC1 (NPC intracellular cholesterol transporter 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['NPC1-related_disorder', 'Niemann-Pick_disease,_type_C1'] | TCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAAAGTTAATTTATTGCATTAAT... | TCTCTTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAAAGTTAATTTATTGCATTAAT... | pathogenic | 288,028 |
Gene mutation in NPC1 (NPC intracellular cholesterol transporter 1) at chromosome 18, position 23533494—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['NPC1-related_disorder', 'Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | TTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAAAGTTAATTTATTGCATTAATAAAG... | TTCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAAAGTTAATTTATTGCATTAATAAAG... | pathogenic | 288,029 |
Is the genetic variant on chromosome 18, position 23533495, gene NPC1 (NPC intracellular cholesterol transporter 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | TCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAAAGTTAATTTATTGCATTAATAAAGC... | TCCATTTAGCTTTTGTATTTGTCTCTCAAAGCAGATAGGGTAACCCCAAAACTTAGGAAAACAATGTATTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGTCCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTGTGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTACAACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAAAGTTAATTTATTGCATTAATAAAGC... | pathogenic | 288,031 |
Clinical classification of chromosome 18, position 23534443, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | TGCTTGAGACCAGCCTGGACAACAGAGTGAGACCACATCTCTCTCCCTCTCTTTTGGAGATGGGCTCTTTGCTTTCTTCCTCAGGCTGCAGTGCAGTGGTATGAACACGACTCACTGCATCCTAAGCCCACCCTTCTGGGCTCAAGCAAGCTTCCTGCCTCAGCCTAACAAGTAGGTGGGACTGCAGACGCACACCACTTCACCTGGCTAATTTTATTTTTGTAGAGATGGAGGCCTCACTATGTTGCCTAGGCTGGTCTCAAACGATTCTCCTGTCTCAGCCTTCCAAAGTGCTCATCTCTTTTTTTTTTTTTTTTTCT... | TGCTTGAGACCAGCCTGGACAACAGAGTGAGACCACATCTCTCTCCCTCTCTTTTGGAGATGGGCTCTTTGCTTTCTTCCTCAGGCTGCAGTGCAGTGGTATGAACACGACTCACTGCATCCTAAGCCCACCCTTCTGGGCTCAAGCAAGCTTCCTGCCTCAGCCTAACAAGTAGGTGGGACTGCAGACGCACACCACTTCACCTGGCTAATTTTATTTTTGTAGAGATGGAGGCCTCACTATGTTGCCTAGGCTGGTCTCAAACGATTCTCCTGTCTCAGCCTTCCAAAGTGCTCATCTCTTTTTTTTTTTTTTTTTCT... | pathogenic | 288,035 |
The genetic variant at chromosome 18, position 23534463, affecting gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | AACAGAGTGAGACCACATCTCTCTCCCTCTCTTTTGGAGATGGGCTCTTTGCTTTCTTCCTCAGGCTGCAGTGCAGTGGTATGAACACGACTCACTGCATCCTAAGCCCACCCTTCTGGGCTCAAGCAAGCTTCCTGCCTCAGCCTAACAAGTAGGTGGGACTGCAGACGCACACCACTTCACCTGGCTAATTTTATTTTTGTAGAGATGGAGGCCTCACTATGTTGCCTAGGCTGGTCTCAAACGATTCTCCTGTCTCAGCCTTCCAAAGTGCTCATCTCTTTTTTTTTTTTTTTTTCTTAAAAGGAACTAGTATATTA... | AACAGAGTGAGACCACATCTCTCTCCCTCTCTTTTGGAGATGGGCTCTTTGCTTTCTTCCTCAGGCTGCAGTGCAGTGGTATGAACACGACTCACTGCATCCTAAGCCCACCCTTCTGGGCTCAAGCAAGCTTCCTGCCTCAGCCTAACAAGTAGGTGGGACTGCAGACGCACACCACTTCACCTGGCTAATTTTATTTTTGTAGAGATGGAGGCCTCACTATGTTGCCTAGGCTGGTCTCAAACGATTCTCCTGTCTCAGCCTTCCAAAGTGCTCATCTCTTTTTTTTTTTTTTTTTCTTAAAAGGAACTAGTATATTA... | pathogenic | 288,038 |
Variant at chromosome position 23535535, chromosome 18, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | CAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCC... | CAAATTTTGTAAGTGTGATTCCACTGAACACCTAAAAGAAGAGATACTGTGTTAGAAACCACTTTTACCAACCTGTAATTGAACAAAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCC... | pathogenic | 288,060 |
Is the variant located on chromosome 18 at position 23535620, gene NPC1 (NPC intracellular cholesterol transporter 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Niemann-Pick_disease,_type_C1'] | AAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTG... | AAAACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTG... | pathogenic | 288,061 |
Is the chromosome 18, position 23535623 variant in NPC1 (NPC intracellular cholesterol transporter 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | ACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTGCCT... | ACACTTCCTTACAAGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTGCCT... | pathogenic | 288,062 |
Is the variant located on chromosome 18 at position 23535636, gene NPC1 (NPC intracellular cholesterol transporter 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Niemann-Pick_disease,_type_C1'] | AGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTGCCTTATGATCCTGGGG... | AGGATTTCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTGCCTTATGATCCTGGGG... | pathogenic | 288,063 |
Does the variant on chromosome 18 at location 23535651 affecting gene NPC1 (NPC intracellular cholesterol transporter 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | TTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTGCCTTATGATCCTGGGGGAGAGGTATGACCAA... | TTCAAGTGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTGCCTTATGATCCTGGGGGAGAGGTATGACCAA... | pathogenic | 288,064 |
Clinically, how would you classify the variant at chromosome 18, position 23535664, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Niemann-Pick_disease,_type_C1'] | CCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTGCCTTATGATCCTGGGGGAGAGGTATGACCAAGTTAAAAGCTGTG... | CCTGCCCCAGCCTCCTGAGTAGCTGGGATTAAACAGGTGCACGCCACCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGGTCTCGAACCCCTGGCCGCAAGTGGTCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGGCCAGCCCTTATGGGGATTTCTTAATATTCAAGGTTCAAAGCAATGGGAACTGAACCCAGGTAGCATCATCTACTACCTAACACTATTTGCTGCCTTATGATCCTGGGGGAGAGGTATGACCAAGTTAAAAGCTGTG... | pathogenic | 288,065 |
The mutation impacting NPC1 (NPC intracellular cholesterol transporter 1) on chromosome 18 at position 23536833: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Niemann-Pick_disease,_type_C1'] | TTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTGGGGCGGGGTGCAATTTTCTAAGTAAAAAGTGAACATCCTGCTGTCATCAGGCTACAGGCTTGTGCAATCTCTAAA... | TTGTGTTGACCAGGAGAAATTGCTGGAACCCGTTAAGGTCACCCCACCCGCACCGAGCTGGCGCATTGTCACAACTTCTTTTCTTGGACCTCAGTGCTCCCCTATCTGAAGCAGGGCTCATATCTGAGAGTACGGATACACTGTTCTATTTTCCATGAATACCTTCTCAAGTGCTCTCATCTTTAATGATTAAAAGTACCTGATAACCACATAGGAGGCAAAAGGCACTGGTCGGAGAGCTCCTGGGGCGGGGTGCAATTTTCTAAGTAAAAAGTGAACATCCTGCTGTCATCAGGCTACAGGCTTGTGCAATCTCTAAA... | pathogenic | 288,079 |
Regarding the variant at chromosome 18 and position 23538604, affecting gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | GGAGCAGGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCC... | GGAGCAGGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCC... | pathogenic | 288,085 |
Does the variant on chromosome 18 at location 23538609 affecting gene NPC1 (NPC intracellular cholesterol transporter 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | AGGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCCCCTGA... | AGGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCCCCTGA... | pathogenic | 288,089 |
Located at chromosome 18 position 23538610, the variant affecting gene NPC1 (NPC intracellular cholesterol transporter 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | GGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCCCCTGAG... | GGGGCCAGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCCCCTGAG... | pathogenic | 288,090 |
Is chromosome 18, position 23538616, gene NPC1 (NPC intracellular cholesterol transporter 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | AGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCCCCTGAGGAAAGA... | AGAACCCAACCTGAAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCCCCTGAGGAAAGA... | pathogenic | 288,091 |
A genetic alteration at chromosome 18, position 23538629, in gene NPC1 (NPC intracellular cholesterol transporter 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | AAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCCCCTGAGGAAAGAATCCTGGGTGTCA... | AAAATCAGCATCTTGCCAAGGGAACCCTCCCCACTCCCACCCAGTGTAGGCCCTTTGCTGGGTAAACCCCATTGAAAAAGGGCAGGCTTTACCTGTAAGGAAATACTCGGTAGGCACTGCCGTTAATGCCCATGGTTTCGGTGACATTACTGGCTATAAGTCGGGCTTTCTTCAGAGCGTCAATAAAGTCAGCAGAGGTCTGCAGCACGGTGTGGTAGGTCATGAAGTACGTGGCTCCGACCCTGGTGCCATGGCCAAGGAGGATGTTAACTGCAGAACTATAGGCAGCATGTCCCCTGAGGAAAGAATCCTGGGTGTCA... | pathogenic | 288,092 |
Chromosome 18, position 23539357, gene NPC1 (NPC intracellular cholesterol transporter 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Niemann-Pick_disease,_type_C1'] | TCAGGTGATCCGCCCACCTCGGCCTCCAAAAGTACTGGGATTACAGGTGTGAGCCACTTCGCCTGGCCAGATGGGCTTTTCTCGATTGCTCTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGC... | TCAGGTGATCCGCCCACCTCGGCCTCCAAAAGTACTGGGATTACAGGTGTGAGCCACTTCGCCTGGCCAGATGGGCTTTTCTCGATTGCTCTGGGTTCTTTGGTACATAGCTGCTGTTTCTCCACCTGGTTTCATGTATAATCAAAGGTACAGGGTTTACTCAGTCCTGTTGTGTAATAGGAAGCAGGAAAGGGCAAGGGCCCTGGGAACAACCTCAGCCCTGCCACTTACTGGTCATGTAACCCCGAGCAAAATGACCACCTCTGAGCCCCAGTCTCCTCTTCTGTAAATGGGTATACCACCACCTACTCATAGGCTGC... | pathogenic | 288,098 |
The mutation in gene NPC1 (NPC intracellular cholesterol transporter 1) at chromosome 18, position 23539830—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Niemann-Pick_disease,_type_C1'] | CTGCAAGATTCATTTCTACTTAACTTTTAGGAGGAGTCATCCCATGATACCTCGAATAGGTCTCAAAGCACATGCATGATATAAATGATTCACTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCT... | CTGCAAGATTCATTTCTACTTAACTTTTAGGAGGAGTCATCCCATGATACCTCGAATAGGTCTCAAAGCACATGCATGATATAAATGATTCACTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCT... | pathogenic | 288,116 |
Regarding the variant at chromosome 18 and position 23539893, affecting gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | CAAAGCACATGCATGATATAAATGATTCACTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCT... | CAAAGCACATGCATGATATAAATGATTCACTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCT... | pathogenic | 288,121 |
The genetic variant at chromosome 18, position 23539922, affecting gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | CTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCTAAGATCACGCCCCAGCTGCCATCAGTACA... | CTGATATGACTCTGGTCAGATGTATGTTCTTATGAAAAACCTAAGTTCAGGGTTTACCTAACATACATGGGGATACTCATCTTCCACCTCCCAAAGCTTCCAAATCAAGGCCAGAGACTTCCGGTCATCATCACTATTTTTGGGCCATATATCTGGCTTCCGTGGGTAACTGGCTGCCTGGCTGGATGGGGGAGTGAGATAGCCCATAACCCTATACATGGATGGGCTGGCAAGGAGCATGACGAGGCTAAAAGAATCGCAACCTTAATGTGGGATAATGTTACTAAAGCTAAGATCACGCCCCAGCTGCCATCAGTACA... | pathogenic | 288,122 |
Considering the variant on chromosome 18, location 23541391, involving gene NPC1 (NPC intracellular cholesterol transporter 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | AGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAGTATTAGGTGGTAAATTAGTCCTTTCAAAGGTTTTTT... | AGGAGAAGGTACCTGAAGCATTGCAGAACTGGTCAGTGATATTGTCCACTCGACAGCAAGACGACTGTGGCTTCACCCAGTCGAAATAATCGTCGATCCAGGACGAGGGGGCGAAGCCTATTCGGGTACTAGAGAGGACAGACAGGGTTACTGACCTGCTCCACAGGGAGGAAGTCTTTAGTTTCAGTACTTTTTCTTAAAACCTAACTTCCTTTTCTACGTTTTATACTGCTAACAGTCAAAAGAAAAACTACATGAGCACTTAATGAAAAAAGCCTTCAAAGTATTAGGTGGTAAATTAGTCCTTTCAAAGGTTTTTT... | pathogenic | 288,140 |
Does the chromosome 18 mutation at position 23543503 within gene NPC1 (NPC intracellular cholesterol transporter 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Niemann-Pick_disease,_type_C1'] | TGCGTCACTTCTGTTTACAGCCGGGGGCTCTCTGCAGGTCTTATGTTCATGTGCATGTACAGATACAAGGAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACT... | TGCGTCACTTCTGTTTACAGCCGGGGGCTCTCTGCAGGTCTTATGTTCATGTGCATGTACAGATACAAGGAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACT... | pathogenic | 288,146 |
A genetic alteration at chromosome 18, position 23543520, in gene NPC1 (NPC intracellular cholesterol transporter 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | CAGCCGGGGGCTCTCTGCAGGTCTTATGTTCATGTGCATGTACAGATACAAGGAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACTGTAAGAAATGGACAGTA... | CAGCCGGGGGCTCTCTGCAGGTCTTATGTTCATGTGCATGTACAGATACAAGGAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACTGTAAGAAATGGACAGTA... | pathogenic | 288,148 |
A genetic alteration at chromosome 18, position 23543572, in gene NPC1 (NPC intracellular cholesterol transporter 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACTGTAAGAAATGGACAGTATTTTCCATTTATTACATCAACACTACTAGCCTCCCAGTTTAGTTAAGAGGTA... | GAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACTGTAAGAAATGGACAGTATTTTCCATTTATTACATCAACACTACTAGCCTCCCAGTTTAGTTAAGAGGTA... | benign | 288,151 |
A genetic variant at chromosome 18, position 23543572, affecting gene NPC1 (NPC intracellular cholesterol transporter 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACTGTAAGAAATGGACAGTATTTTCCATTTATTACATCAACACTACTAGCCTCCCAGTTTAGTTAAGAGGTA... | GAGCCAGCACAGGCCAAACGCATGAGAAGGCATGCTGCGGCTGGACATTACACCAGAAGTGGGACAGGAGGTGATAAGCCAGTGCTTTTCAAAGCACACTCAGCACCAGACCATTTGGGAAGCCCCATCCTAGTTATGACAGGAATTCAACCCCAATTCTACTATACTCAGGTTCACAGCAAATTCACACACATTAAAATTTGAGAACCACTAATACAGGCCATTTCTTATAGTACTTTCTGTGCTTCACTGTAAGAAATGGACAGTATTTTCCATTTATTACATCAACACTACTAGCCTCCCAGTTTAGTTAAGAGGTA... | benign | 288,152 |
Gene NPC1 (NPC intracellular cholesterol transporter 1) variant at chromosome position 23544344 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | AACTACAGGGCTACAGGTTTCAAAAGCACATGGCTTTGTGGAGATGAAGAATAACAAGCTAGCAGTGTATCTGTGGTGAAAGACTACCACCTACAATGACCTTACAATGGCCCTGATTAAGCTGACCTCCCAGCCATGTAGGCATTGCAGTTTGTGGCCCGTGGATGGTCTTCTTTGGACTGAGTGATTCCAGTCCAGCCTCCCCTATAGTGGACAGAGTCACTTTGCTCTTACTACACTTCAGACATGGGGCAGACAGCCCCACTAGTGGGTCTATTTGATGATTCTCTATGTGAAAGAAACACAGAAGTGCTGACTTT... | AACTACAGGGCTACAGGTTTCAAAAGCACATGGCTTTGTGGAGATGAAGAATAACAAGCTAGCAGTGTATCTGTGGTGAAAGACTACCACCTACAATGACCTTACAATGGCCCTGATTAAGCTGACCTCCCAGCCATGTAGGCATTGCAGTTTGTGGCCCGTGGATGGTCTTCTTTGGACTGAGTGATTCCAGTCCAGCCTCCCCTATAGTGGACAGAGTCACTTTGCTCTTACTACACTTCAGACATGGGGCAGACAGCCCCACTAGTGGGTCTATTTGATGATTCTCTATGTGAAAGAAACACAGAAGTGCTGACTTT... | pathogenic | 288,155 |
Is the variant located on chromosome 18 at position 23544387, gene NPC1 (NPC intracellular cholesterol transporter 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Niemann-Pick_disease,_type_C1'] | ATGAAGAATAACAAGCTAGCAGTGTATCTGTGGTGAAAGACTACCACCTACAATGACCTTACAATGGCCCTGATTAAGCTGACCTCCCAGCCATGTAGGCATTGCAGTTTGTGGCCCGTGGATGGTCTTCTTTGGACTGAGTGATTCCAGTCCAGCCTCCCCTATAGTGGACAGAGTCACTTTGCTCTTACTACACTTCAGACATGGGGCAGACAGCCCCACTAGTGGGTCTATTTGATGATTCTCTATGTGAAAGAAACACAGAAGTGCTGACTTTGTTCCAGCTTATTCTGGCTCCTTGTAATGTGGTGAGTCAAGAG... | ATGAAGAATAACAAGCTAGCAGTGTATCTGTGGTGAAAGACTACCACCTACAATGACCTTACAATGGCCCTGATTAAGCTGACCTCCCAGCCATGTAGGCATTGCAGTTTGTGGCCCGTGGATGGTCTTCTTTGGACTGAGTGATTCCAGTCCAGCCTCCCCTATAGTGGACAGAGTCACTTTGCTCTTACTACACTTCAGACATGGGGCAGACAGCCCCACTAGTGGGTCTATTTGATGATTCTCTATGTGAAAGAAACACAGAAGTGCTGACTTTGTTCCAGCTTATTCTGGCTCCTTGTAATGTGGTGAGTCAAGAG... | pathogenic | 288,160 |
Gene NPC1 (NPC intracellular cholesterol transporter 1) variant at chromosome position 23544943 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CACCCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCA... | CACCCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCA... | benign | 288,172 |
Does the variant on chromosome 18 at location 23544943 affecting gene NPC1 (NPC intracellular cholesterol transporter 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CACCCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCA... | CACCCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCA... | benign | 288,173 |
A genetic alteration at chromosome 18, position 23544943, in gene NPC1 (NPC intracellular cholesterol transporter 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CACCCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCA... | CACCCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCA... | benign | 288,174 |
Evaluate this variant at chromosome 18, position 23544944, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ACCCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAG... | ACCCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAG... | benign | 288,176 |
Variant chromosome 18, position 23544946, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Disease(s)? | benign | CCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCT... | CCTGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCT... | benign | 288,178 |
Is the chromosome 18, position 23544948 variant in NPC1 (NPC intracellular cholesterol transporter 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTAT... | TGAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTAT... | benign | 288,180 |
Variant chromosome 18, position 23544949, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Disease(s)? | benign | GAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATT... | GAACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATT... | benign | 288,181 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 23544950, gene NPC1 (NPC intracellular cholesterol transporter 1): what disease(s) if pathogenic? | benign | AACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTT... | AACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTT... | benign | 288,182 |
Evaluate if the mutation on chromosome 18 at position 23544950 in NPC1 (NPC intracellular cholesterol transporter 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTT... | AACCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTT... | benign | 288,183 |
Is the variant located on chromosome 18 at position 23544952, gene NPC1 (NPC intracellular cholesterol transporter 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTTGG... | CCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTTGG... | benign | 288,186 |
The mutation impacting NPC1 (NPC intracellular cholesterol transporter 1) on chromosome 18 at position 23544952: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTTGG... | CCCCAACATCAATGCTGTCCTGACAGTTAAATGAGAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTTGG... | benign | 288,187 |
Does the variant on chromosome 18 at location 23544986 affecting gene NPC1 (NPC intracellular cholesterol transporter 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | GAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGA... | GAAGGAAGCCACTTGCAAAATCACACCTAAGTTACTGCTGCCAATTTTTCTGTGGTCCAGTGATACTTTCCCAGTGCAGAACAAAGCTTAAAAAAAGGAGACAACACGGGCTGGGCACGGGGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAAATTAACTGGGCATGGTGGTACGTGCCTTTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGA... | pathogenic | 288,190 |
Evaluate this variant at chromosome 18, position 23548051, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | CTTTGGGAGGCTGAGGCTGGCAGATCACCTGAGGTCAAGAGTTCGAGACTAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGAAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGGCTGCAGCGAGCTGAGATCATGCCACTGCACTCCAGCCTGGATGACACAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCATTCAGTCTACTAAATCAAAACCACAATGAGATACCAC... | CTTTGGGAGGCTGAGGCTGGCAGATCACCTGAGGTCAAGAGTTCGAGACTAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGAAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGGCTGCAGCGAGCTGAGATCATGCCACTGCACTCCAGCCTGGATGACACAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCATTCAGTCTACTAAATCAAAACCACAATGAGATACCAC... | pathogenic | 288,196 |
Is the genetic change at chromosome 18, position 23551652, within gene NPC1 (NPC intracellular cholesterol transporter 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | ACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCTGAAAAATAAAATAAAAACCTTTTTTTTTTGTATTTCTTCTTTTGTTATCTTTCACATGACCTCACCCACTTTTCTTTCAGGTTGTTGATCTTTTTTTCACAACTTTTTTTTTTTTTTTTAAGACGGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGAATGATCTTGGCTCACTGCAAACTCCACCTCCAGGATTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACGTGTGGCTAATTTTTTTTGTATTTT... | ACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCTGAAAAATAAAATAAAAACCTTTTTTTTTTGTATTTCTTCTTTTGTTATCTTTCACATGACCTCACCCACTTTTCTTTCAGGTTGTTGATCTTTTTTTCACAACTTTTTTTTTTTTTTTTAAGACGGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGAATGATCTTGGCTCACTGCAAACTCCACCTCCAGGATTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACGTGTGGCTAATTTTTTTTGTATTTT... | pathogenic | 288,200 |
Variant chromosome 18, position 23556407, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Disease(s)? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | ACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCT... | ACTTTGGGAGGCCGAGGTGGGCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCT... | pathogenic | 288,222 |
Assess the variant on chromosome 18, position 23556427, impacting NPC1 (NPC intracellular cholesterol transporter 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Niemann-Pick_disease,_type_C1'] | GCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCC... | GCGGATCGCCTGAGGTCAGGAGATTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCC... | pathogenic | 288,224 |
The genetic variant at chromosome 18, position 23556534, affecting gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_C1'] | GTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACCCAAGAATGGTGTCTACCAATGATTGTCTCTTGCCACTTACCGTACGCAGTACAGAAAGTGCGTGTGGTAATCGGCATACACAAAGAAG... | GTCCTAGCTACTCAGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACCCAAGAATGGTGTCTACCAATGATTGTCTCTTGCCACTTACCGTACGCAGTACAGAAAGTGCGTGTGGTAATCGGCATACACAAAGAAG... | pathogenic | 288,232 |
Clinical significance of chromosome 18, position 23556547, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Niemann-Pick_disease,_type_C1'] | AGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACCCAAGAATGGTGTCTACCAATGATTGTCTCTTGCCACTTACCGTACGCAGTACAGAAAGTGCGTGTGGTAATCGGCATACACAAAGAAGTCGTCCCCTTTCT... | AGGAGGCTGAGGTATGAGAATCGCTTGAACTTGGGAGCCGGAGGTTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACCCAAGAATGGTGTCTACCAATGATTGTCTCTTGCCACTTACCGTACGCAGTACAGAAAGTGCGTGTGGTAATCGGCATACACAAAGAAGTCGTCCCCTTTCT... | pathogenic | 288,233 |
Evaluate if the mutation on chromosome 18 at position 23556594 in NPC1 (NPC intracellular cholesterol transporter 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | CAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACCCAAGAATGGTGTCTACCAATGATTGTCTCTTGCCACTTACCGTACGCAGTACAGAAAGTGCGTGTGGTAATCGGCATACACAAAGAAGTCGTCCCCTTTCTTGTGGTCCAGCACGGAATGGCTGTTCTGGAAGTAATTTAACACACTC... | CAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGATGATGTAAACTTCACAGGGCAAGGTCTTGTTGTTTGCTCACCTCTGGGTTATGCTCATAAAACAAGCTTTTGCCCATGTACCCTAAGTCAGACCCAAGAATGGTGTCTACCAATGATTGTCTCTTGCCACTTACCGTACGCAGTACAGAAAGTGCGTGTGGTAATCGGCATACACAAAGAAGTCGTCCCCTTTCTTGTGGTCCAGCACGGAATGGCTGTTCTGGAAGTAATTTAACACACTC... | pathogenic | 288,234 |
Clinical significance of chromosome 18, position 23560259, gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Niemann-Pick_disease,_type_C1'] | AATATTAGTATAGTCTCAAAGCATCTTCCCCCAAGATATTTATCAATTACGAAGGGAAAAGCAGTAACTTCACAGTGGAGATAGCCAGCAGACATCACCTTGAGCAAGTGATCAAGGTTAACATCACCAGGAAAGAGACGCATCAACATCAGGGATCCCTGACATGATGCACCGAGAAAGACATAACATGACTTCTGTGATGTACTTGTCAAAACACCTTATTTCAATCTCATCATGAGAAAATACCAGATAAAGCCAAATGGAAGGACATGCTACAAAATACCTGACCAGTATCATCAAGAGTGTTAAGGCCAGAAAAG... | AATATTAGTATAGTCTCAAAGCATCTTCCCCCAAGATATTTATCAATTACGAAGGGAAAAGCAGTAACTTCACAGTGGAGATAGCCAGCAGACATCACCTTGAGCAAGTGATCAAGGTTAACATCACCAGGAAAGAGACGCATCAACATCAGGGATCCCTGACATGATGCACCGAGAAAGACATAACATGACTTCTGTGATGTACTTGTCAAAACACCTTATTTCAATCTCATCATGAGAAAATACCAGATAAAGCCAAATGGAAGGACATGCTACAAAATACCTGACCAGTATCATCAAGAGTGTTAAGGCCAGAAAAG... | pathogenic | 288,247 |
A mutation at chromosome position 23560259 on chromosome 18 in gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | AATATTAGTATAGTCTCAAAGCATCTTCCCCCAAGATATTTATCAATTACGAAGGGAAAAGCAGTAACTTCACAGTGGAGATAGCCAGCAGACATCACCTTGAGCAAGTGATCAAGGTTAACATCACCAGGAAAGAGACGCATCAACATCAGGGATCCCTGACATGATGCACCGAGAAAGACATAACATGACTTCTGTGATGTACTTGTCAAAACACCTTATTTCAATCTCATCATGAGAAAATACCAGATAAAGCCAAATGGAAGGACATGCTACAAAATACCTGACCAGTATCATCAAGAGTGTTAAGGCCAGAAAAG... | AATATTAGTATAGTCTCAAAGCATCTTCCCCCAAGATATTTATCAATTACGAAGGGAAAAGCAGTAACTTCACAGTGGAGATAGCCAGCAGACATCACCTTGAGCAAGTGATCAAGGTTAACATCACCAGGAAAGAGACGCATCAACATCAGGGATCCCTGACATGATGCACCGAGAAAGACATAACATGACTTCTGTGATGTACTTGTCAAAACACCTTATTTCAATCTCATCATGAGAAAATACCAGATAAAGCCAAATGGAAGGACATGCTACAAAATACCTGACCAGTATCATCAAGAGTGTTAAGGCCAGAAAAG... | pathogenic | 288,248 |
A genetic variant at chromosome 18, position 23560272, affecting gene NPC1 (NPC intracellular cholesterol transporter 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Niemann-Pick_disease,_type_C1'] | TCTCAAAGCATCTTCCCCCAAGATATTTATCAATTACGAAGGGAAAAGCAGTAACTTCACAGTGGAGATAGCCAGCAGACATCACCTTGAGCAAGTGATCAAGGTTAACATCACCAGGAAAGAGACGCATCAACATCAGGGATCCCTGACATGATGCACCGAGAAAGACATAACATGACTTCTGTGATGTACTTGTCAAAACACCTTATTTCAATCTCATCATGAGAAAATACCAGATAAAGCCAAATGGAAGGACATGCTACAAAATACCTGACCAGTATCATCAAGAGTGTTAAGGCCAGAAAAGGAAAGACTGAGGA... | TCTCAAAGCATCTTCCCCCAAGATATTTATCAATTACGAAGGGAAAAGCAGTAACTTCACAGTGGAGATAGCCAGCAGACATCACCTTGAGCAAGTGATCAAGGTTAACATCACCAGGAAAGAGACGCATCAACATCAGGGATCCCTGACATGATGCACCGAGAAAGACATAACATGACTTCTGTGATGTACTTGTCAAAACACCTTATTTCAATCTCATCATGAGAAAATACCAGATAAAGCCAAATGGAAGGACATGCTACAAAATACCTGACCAGTATCATCAAGAGTGTTAAGGCCAGAAAAGGAAAGACTGAGGA... | pathogenic | 288,249 |
A mutation at chromosome position 23568833 on chromosome 18 in gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1', 'Niemann-Pick_disease,_type_C1,_juvenile_form'] | ATAGTATCATATAGAGTATTTTCACCACCTAAAAATCTTCTGTGCTCTACTTATGCCTTCCTCTCTCCTAACCCATGGCAATCACTGACTTTTTACTGTCTCCACGGTTTTGCCTTTTGTAGAACGTCATATAGTGGAATCATAGTGAGTAGTCTTTTCAGATTGGCTTTGCTTAGTAATAGGATTTAAGGTTCATCCATGTACTTTCATGGCTTGATAGCACTGAATTTTCATGGCTTTTTAGCACCAAATAATATTCCACTGTGTGGATGTAGCAGTTTATTTACCCATTCACCTACTGAGAGAAATCTTGGTGGCTT... | ATAGTATCATATAGAGTATTTTCACCACCTAAAAATCTTCTGTGCTCTACTTATGCCTTCCTCTCTCCTAACCCATGGCAATCACTGACTTTTTACTGTCTCCACGGTTTTGCCTTTTGTAGAACGTCATATAGTGGAATCATAGTGAGTAGTCTTTTCAGATTGGCTTTGCTTAGTAATAGGATTTAAGGTTCATCCATGTACTTTCATGGCTTGATAGCACTGAATTTTCATGGCTTTTTAGCACCAAATAATATTCCACTGTGTGGATGTAGCAGTTTATTTACCCATTCACCTACTGAGAGAAATCTTGGTGGCTT... | pathogenic | 288,261 |
The genetic variant at chromosome 18, position 23568861, affecting gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | CTAAAAATCTTCTGTGCTCTACTTATGCCTTCCTCTCTCCTAACCCATGGCAATCACTGACTTTTTACTGTCTCCACGGTTTTGCCTTTTGTAGAACGTCATATAGTGGAATCATAGTGAGTAGTCTTTTCAGATTGGCTTTGCTTAGTAATAGGATTTAAGGTTCATCCATGTACTTTCATGGCTTGATAGCACTGAATTTTCATGGCTTTTTAGCACCAAATAATATTCCACTGTGTGGATGTAGCAGTTTATTTACCCATTCACCTACTGAGAGAAATCTTGGTGGCTTACAAGTTTTGGCACTTATGGACAAAGCT... | CTAAAAATCTTCTGTGCTCTACTTATGCCTTCCTCTCTCCTAACCCATGGCAATCACTGACTTTTTACTGTCTCCACGGTTTTGCCTTTTGTAGAACGTCATATAGTGGAATCATAGTGAGTAGTCTTTTCAGATTGGCTTTGCTTAGTAATAGGATTTAAGGTTCATCCATGTACTTTCATGGCTTGATAGCACTGAATTTTCATGGCTTTTTAGCACCAAATAATATTCCACTGTGTGGATGTAGCAGTTTATTTACCCATTCACCTACTGAGAGAAATCTTGGTGGCTTACAAGTTTTGGCACTTATGGACAAAGCT... | pathogenic | 288,267 |
Located at chromosome 18 position 23568890, the variant affecting gene NPC1 (NPC intracellular cholesterol transporter 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | TTCCTCTCTCCTAACCCATGGCAATCACTGACTTTTTACTGTCTCCACGGTTTTGCCTTTTGTAGAACGTCATATAGTGGAATCATAGTGAGTAGTCTTTTCAGATTGGCTTTGCTTAGTAATAGGATTTAAGGTTCATCCATGTACTTTCATGGCTTGATAGCACTGAATTTTCATGGCTTTTTAGCACCAAATAATATTCCACTGTGTGGATGTAGCAGTTTATTTACCCATTCACCTACTGAGAGAAATCTTGGTGGCTTACAAGTTTTGGCACTTATGGACAAAGCTGCTACAAATATCCACGTGCAGGTTTTGGG... | TTCCTCTCTCCTAACCCATGGCAATCACTGACTTTTTACTGTCTCCACGGTTTTGCCTTTTGTAGAACGTCATATAGTGGAATCATAGTGAGTAGTCTTTTCAGATTGGCTTTGCTTAGTAATAGGATTTAAGGTTCATCCATGTACTTTCATGGCTTGATAGCACTGAATTTTCATGGCTTTTTAGCACCAAATAATATTCCACTGTGTGGATGTAGCAGTTTATTTACCCATTCACCTACTGAGAGAAATCTTGGTGGCTTACAAGTTTTGGCACTTATGGACAAAGCTGCTACAAATATCCACGTGCAGGTTTTGGG... | pathogenic | 288,268 |
Located at chromosome 18 position 23568932, the variant affecting gene NPC1 (NPC intracellular cholesterol transporter 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C1'] | CTCCACGGTTTTGCCTTTTGTAGAACGTCATATAGTGGAATCATAGTGAGTAGTCTTTTCAGATTGGCTTTGCTTAGTAATAGGATTTAAGGTTCATCCATGTACTTTCATGGCTTGATAGCACTGAATTTTCATGGCTTTTTAGCACCAAATAATATTCCACTGTGTGGATGTAGCAGTTTATTTACCCATTCACCTACTGAGAGAAATCTTGGTGGCTTACAAGTTTTGGCACTTATGGACAAAGCTGCTACAAATATCCACGTGCAGGTTTTGGGGTAGACACATTTTTAACTCATTTGGGTAAATACCAAGGAGTA... | CTCCACGGTTTTGCCTTTTGTAGAACGTCATATAGTGGAATCATAGTGAGTAGTCTTTTCAGATTGGCTTTGCTTAGTAATAGGATTTAAGGTTCATCCATGTACTTTCATGGCTTGATAGCACTGAATTTTCATGGCTTTTTAGCACCAAATAATATTCCACTGTGTGGATGTAGCAGTTTATTTACCCATTCACCTACTGAGAGAAATCTTGGTGGCTTACAAGTTTTGGCACTTATGGACAAAGCTGCTACAAATATCCACGTGCAGGTTTTGGGGTAGACACATTTTTAACTCATTTGGGTAAATACCAAGGAGTA... | pathogenic | 288,271 |
Does the genetic variant at chromosome 18, position 23573487, impacting gene NPC1 (NPC intracellular cholesterol transporter 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Niemann-Pick_disease,_type_C1'] | TTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATATAAAACTTAGCTAGGTGTGGTGGCATGTGCCTGCAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGAGGTTGCAGTAAGCTGAGATCATGCCACTGTACTCCAGCCTCGGTGACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAATAAAGAAAAACATAAATAAAATTAGCTAGACATGGTAGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTAAGGTAGAACAATCACTGG... | TTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATATAAAACTTAGCTAGGTGTGGTGGCATGTGCCTGCAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGAGGTTGCAGTAAGCTGAGATCATGCCACTGTACTCCAGCCTCGGTGACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAATAAAGAAAAACATAAATAAAATTAGCTAGACATGGTAGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTAAGGTAGAACAATCACTGG... | pathogenic | 288,282 |
Evaluate the clinical significance of the mutation at chromosome 18, position 23573531 in gene NPC1 (NPC intracellular cholesterol transporter 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Sphingomyelin/cholesterol_lipidosis'] | CCCACCTCTACTAAAAATATAAAACTTAGCTAGGTGTGGTGGCATGTGCCTGCAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGAGGTTGCAGTAAGCTGAGATCATGCCACTGTACTCCAGCCTCGGTGACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAATAAAGAAAAACATAAATAAAATTAGCTAGACATGGTAGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTAAGGTAGAACAATCACTGGAGCCTAGGAAGTTTAAGCTGCAGTGAGCTGTGATCACACCACAA... | CCCACCTCTACTAAAAATATAAAACTTAGCTAGGTGTGGTGGCATGTGCCTGCAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGAGGTTGCAGTAAGCTGAGATCATGCCACTGTACTCCAGCCTCGGTGACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAATAAAGAAAAACATAAATAAAATTAGCTAGACATGGTAGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTAAGGTAGAACAATCACTGGAGCCTAGGAAGTTTAAGCTGCAGTGAGCTGTGATCACACCACAA... | pathogenic | 288,284 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 23573564, gene NPC1 (NPC intracellular cholesterol transporter 1): what disease(s) if pathogenic? | pathogenic | GTGTGGTGGCATGTGCCTGCAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGAGGTTGCAGTAAGCTGAGATCATGCCACTGTACTCCAGCCTCGGTGACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAATAAAGAAAAACATAAATAAAATTAGCTAGACATGGTAGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTAAGGTAGAACAATCACTGGAGCCTAGGAAGTTTAAGCTGCAGTGAGCTGTGATCACACCACAAACCACTGCACTCTAGCCTGGGCAGCAGAGTGAG... | GTGTGGTGGCATGTGCCTGCAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGAGGTTGCAGTAAGCTGAGATCATGCCACTGTACTCCAGCCTCGGTGACAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAAAATAAAGAAAAACATAAATAAAATTAGCTAGACATGGTAGTGCATGCCTGTAGTCCTAGCTACTCAGGAGGCTAAGGTAGAACAATCACTGGAGCCTAGGAAGTTTAAGCTGCAGTGAGCTGTGATCACACCACAAACCACTGCACTCTAGCCTGGGCAGCAGAGTGAG... | pathogenic | 288,285 |
Mutation at chromosome 18, position 23873109, within LAMA3: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa'] | TTTAATGAATGACCTGAGCTGCATGACTCAGTCAGTTTCCATATGCCTTCCTTCCCTCTTTCTCACTCACCTTATGTTTGCACAAACAAAAGCACATTTAAAAGATAAGTTGGACACTGGGAATTTTATTTCATTTTATTGCCCCTTATTCCCTGCCTTCATTTTTTTTCCTTCCTTCATGGGAATAACCCAGGACACCTGACTTCTAAATGTAAATACTCCAGGAGGCAGGTATTTCCCCGTCTTATTTCATTTCTCCCTATGCATTTTAAGTGTCTTGTTTTTGATTCATTCGGGGTGTCTGCCTCTAAGGAACCCCT... | TTTAATGAATGACCTGAGCTGCATGACTCAGTCAGTTTCCATATGCCTTCCTTCCCTCTTTCTCACTCACCTTATGTTTGCACAAACAAAAGCACATTTAAAAGATAAGTTGGACACTGGGAATTTTATTTCATTTTATTGCCCCTTATTCCCTGCCTTCATTTTTTTTCCTTCCTTCATGGGAATAACCCAGGACACCTGACTTCTAAATGTAAATACTCCAGGAGGCAGGTATTTCCCCGTCTTATTTCATTTCTCCCTATGCATTTTAAGTGTCTTGTTTTTGATTCATTCGGGGTGTCTGCCTCTAAGGAACCCCT... | pathogenic | 288,349 |
Evaluate the clinical significance of the mutation at chromosome 18, position 23873151 in gene LAMA3: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | ATGCCTTCCTTCCCTCTTTCTCACTCACCTTATGTTTGCACAAACAAAAGCACATTTAAAAGATAAGTTGGACACTGGGAATTTTATTTCATTTTATTGCCCCTTATTCCCTGCCTTCATTTTTTTTCCTTCCTTCATGGGAATAACCCAGGACACCTGACTTCTAAATGTAAATACTCCAGGAGGCAGGTATTTCCCCGTCTTATTTCATTTCTCCCTATGCATTTTAAGTGTCTTGTTTTTGATTCATTCGGGGTGTCTGCCTCTAAGGAACCCCTGGAAGTGAGCCTGCCTAAGGAAGACCCTGACTTTCTGTTTCC... | ATGCCTTCCTTCCCTCTTTCTCACTCACCTTATGTTTGCACAAACAAAAGCACATTTAAAAGATAAGTTGGACACTGGGAATTTTATTTCATTTTATTGCCCCTTATTCCCTGCCTTCATTTTTTTTCCTTCCTTCATGGGAATAACCCAGGACACCTGACTTCTAAATGTAAATACTCCAGGAGGCAGGTATTTCCCCGTCTTATTTCATTTCTCCCTATGCATTTTAAGTGTCTTGTTTTTGATTCATTCGGGGTGTCTGCCTCTAAGGAACCCCTGGAAGTGAGCCTGCCTAAGGAAGACCCTGACTTTCTGTTTCC... | pathogenic | 288,351 |
Classify the chromosome 18 variant at position 23873194 affecting gene LAMA3 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz', 'Laryngo-onycho-cutaneous_syndrome'] | ACAAAAGCACATTTAAAAGATAAGTTGGACACTGGGAATTTTATTTCATTTTATTGCCCCTTATTCCCTGCCTTCATTTTTTTTCCTTCCTTCATGGGAATAACCCAGGACACCTGACTTCTAAATGTAAATACTCCAGGAGGCAGGTATTTCCCCGTCTTATTTCATTTCTCCCTATGCATTTTAAGTGTCTTGTTTTTGATTCATTCGGGGTGTCTGCCTCTAAGGAACCCCTGGAAGTGAGCCTGCCTAAGGAAGACCCTGACTTTCTGTTTCCATGTGTAGGGAAACTTCAGACATGCCAGCAGCCGTGCCCCAGT... | ACAAAAGCACATTTAAAAGATAAGTTGGACACTGGGAATTTTATTTCATTTTATTGCCCCTTATTCCCTGCCTTCATTTTTTTTCCTTCCTTCATGGGAATAACCCAGGACACCTGACTTCTAAATGTAAATACTCCAGGAGGCAGGTATTTCCCCGTCTTATTTCATTTCTCCCTATGCATTTTAAGTGTCTTGTTTTTGATTCATTCGGGGTGTCTGCCTCTAAGGAACCCCTGGAAGTGAGCCTGCCTAAGGAAGACCCTGACTTTCTGTTTCCATGTGTAGGGAAACTTCAGACATGCCAGCAGCCGTGCCCCAGT... | pathogenic | 288,355 |
Is the genetic variant on chromosome 18, position 23876342, gene LAMA3 (laminin subunit alpha 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Epidermolysis_bullosa,_junctional_2A,_intermediate', 'Epidermolysis_bullosa,_junctional_2B,_severe', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz', 'Laryngo-onycho-cutaneous_syndrome'] | TTAGGACAGATTGTATAATAGATAGAATGACACCATCATTGGCTGCATTTCGTTCACATGTAAATCTCAATTGTGCTTTCAGCAAAATAACATTCCTTTCATACTTTGATTCTCCTTTAGGCAAGCCTGTTCATATAACAACATAATCTATTTATTTGCAATATACTCTTTGCCCTAAACATGGTTCCTAATAGCTTAAAGGAACATTATATTGGAAACTGTGGTCTTATTGTGCATGATCTATATTCATTGGTAATTTTGGAAGGGGTTCTAGCAACACCTGGGAGATTCCACTCCCGGAGCACATGAGGCTTCTGCCT... | TTAGGACAGATTGTATAATAGATAGAATGACACCATCATTGGCTGCATTTCGTTCACATGTAAATCTCAATTGTGCTTTCAGCAAAATAACATTCCTTTCATACTTTGATTCTCCTTTAGGCAAGCCTGTTCATATAACAACATAATCTATTTATTTGCAATATACTCTTTGCCCTAAACATGGTTCCTAATAGCTTAAAGGAACATTATATTGGAAACTGTGGTCTTATTGTGCATGATCTATATTCATTGGTAATTTTGGAAGGGGTTCTAGCAACACCTGGGAGATTCCACTCCCGGAGCACATGAGGCTTCTGCCT... | pathogenic | 288,358 |
Regarding the variant at chromosome 18 and position 23882017, affecting gene LAMA3 (laminin subunit alpha 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Epidermolysis_bullosa,_junctional_2A,_intermediate', 'Epidermolysis_bullosa,_junctional_2B,_severe', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz', 'Laryngo-onycho-cutaneous_syndrome'] | AAATATATCTATACAGTCATGTTCTACTTTTAAATTGTCATTTGGATTAAAAGAGAAAGAGAACTAAAATGGAAAAGTATTAGTTCCAAAGGACTGATGTCTTCTGAGAGAGTCAGGGCAGCTGAAGACTGGGTGAGGGTGAGGGAAGCCGCTGGTGTCCTCCTCAGTCACCCGTGAGAGGACTCCTCTGTGGAGCTAATCAACTGCAAGGAAGATTGTTCCCAGTGTCCAGACCTGAAGGAGTCTGGACCCATAGTGCAGTGAGATTTGGGGAAGGAAGGATTCCGGATAGGGGTGAGCTTTCTGATGATAAGCAAATG... | AAATATATCTATACAGTCATGTTCTACTTTTAAATTGTCATTTGGATTAAAAGAGAAAGAGAACTAAAATGGAAAAGTATTAGTTCCAAAGGACTGATGTCTTCTGAGAGAGTCAGGGCAGCTGAAGACTGGGTGAGGGTGAGGGAAGCCGCTGGTGTCCTCCTCAGTCACCCGTGAGAGGACTCCTCTGTGGAGCTAATCAACTGCAAGGAAGATTGTTCCCAGTGTCCAGACCTGAAGGAGTCTGGACCCATAGTGCAGTGAGATTTGGGGAAGGAAGGATTCCGGATAGGGGTGAGCTTTCTGATGATAAGCAAATG... | pathogenic | 288,364 |
Regarding the variant found on chromosome 18 at position 23894296 in gene LAMA3 (laminin subunit alpha 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CCCTCATTTCCCCCACGCCAGTAACAAAAATCAGCAACATGAAATGAGGATAGTAACTATTTGTTCCCAAAATGGAAGAAAATGCTTATGTATGAGACTTGCTTATTCCTGTTAGAGTTTTGTTGTTGTTGTTTTTTATTCTTTTTTTTTTTCTTCAACTAATAAGGGACACATTCCTTGGTGGTCAAAATGCAAGCTTGTTAGGAAAATTCCACTAATAAATCAATCATCCAGAGAAGCCTAGTCCCCCATAAACTATTCAGGCTGCTGTTGAAAATTGTCAAGGAAACAAGACCATGCTTGCTGGCCAGAAGCCATTT... | CCCTCATTTCCCCCACGCCAGTAACAAAAATCAGCAACATGAAATGAGGATAGTAACTATTTGTTCCCAAAATGGAAGAAAATGCTTATGTATGAGACTTGCTTATTCCTGTTAGAGTTTTGTTGTTGTTGTTTTTTATTCTTTTTTTTTTTCTTCAACTAATAAGGGACACATTCCTTGGTGGTCAAAATGCAAGCTTGTTAGGAAAATTCCACTAATAAATCAATCATCCAGAGAAGCCTAGTCCCCCATAAACTATTCAGGCTGCTGTTGAAAATTGTCAAGGAAACAAGACCATGCTTGCTGGCCAGAAGCCATTT... | pathogenic | 288,369 |
Is the genetic change at chromosome 18, position 23894988, within gene LAMA3 (laminin subunit alpha 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Epidermolysis_bullosa,_junctional_2A,_intermediate', 'Epidermolysis_bullosa,_junctional_2B,_severe', 'Junctional_epidermolysis_bullosa', 'Laryngo-onycho-cutaneous_syndrome'] | TAAAAAGGAACCCATGATTATATATAATAAATTAAAATGTATATAAATATTTATAAAGGGAACATTGTCTTTGAGTGGCAGGATCAAGGATGATGCTTTTATTTCATTTTTCTGACTTCCCCATATTTTCCATAATTAATTTATATTATTTTTTACAATTAAAAGTAAATGTGGTTTAAAATGTCTGTATATACACACAAAGTGTGGAATATTATTGGCTGGTGAGAATAACAGATGTGAAAGCCTCTTGTAGCTTGTCCAGGAAAATGTTAAGCATAGAGTTTTGCTGTTGTGAAGGTAGATAGTTTGTTCAGGGGGAA... | TAAAAAGGAACCCATGATTATATATAATAAATTAAAATGTATATAAATATTTATAAAGGGAACATTGTCTTTGAGTGGCAGGATCAAGGATGATGCTTTTATTTCATTTTTCTGACTTCCCCATATTTTCCATAATTAATTTATATTATTTTTTACAATTAAAAGTAAATGTGGTTTAAAATGTCTGTATATACACACAAAGTGTGGAATATTATTGGCTGGTGAGAATAACAGATGTGAAAGCCTCTTGTAGCTTGTCCAGGAAAATGTTAAGCATAGAGTTTTGCTGTTGTGAAGGTAGATAGTTTGTTCAGGGGGAA... | pathogenic | 288,372 |
For chromosome 18, position 23899430, gene LAMA3 (laminin subunit alpha 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GAGGAGGGAAAAGCATTTATGTCTTGAGGGGAAAAAAAAGGAAGCCACTGGCTTGCTTGGATTTCATCAACATGGCCCTGCAGCCTTCACCATTCTGCACACACGCTGTTTGCCACACCCTGTGCTAAGGGCTTTACTCAAGTCTCACAACCTCCTCATGAGGAACCTAGTGTTGTTCTCATTAAACAGGCATGGAGAAGCTGAGAAACTTGCCTAGAATCATGGTGGTTCTGGAAGAATTCAAATCAAGATCAAATTCTAAAGACCATGCTTTACCCACTCCACTTCTTATCCAGGTGTTCTGCTGACAATCTATATAA... | GAGGAGGGAAAAGCATTTATGTCTTGAGGGGAAAAAAAAGGAAGCCACTGGCTTGCTTGGATTTCATCAACATGGCCCTGCAGCCTTCACCATTCTGCACACACGCTGTTTGCCACACCCTGTGCTAAGGGCTTTACTCAAGTCTCACAACCTCCTCATGAGGAACCTAGTGTTGTTCTCATTAAACAGGCATGGAGAAGCTGAGAAACTTGCCTAGAATCATGGTGGTTCTGGAAGAATTCAAATCAAGATCAAATTCTAAAGACCATGCTTTACCCACTCCACTTCTTATCCAGGTGTTCTGCTGACAATCTATATAA... | pathogenic | 288,375 |
Does the genetic variant at chromosome 18, position 23901162, impacting gene LAMA3 (laminin subunit alpha 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | TTCATTGTACACTAAAAGAATTCCCTTTAAGATTTCAACATTATGAAAAGAATCCCATAGTGATACTAAAAAACTAATATAAAATCTCCATAGAAGTTTCTACCTTTTTTTTTTTTTAAGTAGCCTACTGGAGCCCAGAATTCCCAGTCTAATAGACCACTTGATGTTTCCTAGTTCTTTTAAAGCAGATCTCTGGGACAGATGGAGAGGGAAACAACGTGCCTTCAGGTGACTTTTCCAGAGAGTGGGCTGAAGCCCAGCGCATGATGAGGGAACTGCGGAACAGGAACTTTGGAAAGCACCTCAGAGAAGCAGAAGCT... | TTCATTGTACACTAAAAGAATTCCCTTTAAGATTTCAACATTATGAAAAGAATCCCATAGTGATACTAAAAAACTAATATAAAATCTCCATAGAAGTTTCTACCTTTTTTTTTTTTTAAGTAGCCTACTGGAGCCCAGAATTCCCAGTCTAATAGACCACTTGATGTTTCCTAGTTCTTTTAAAGCAGATCTCTGGGACAGATGGAGAGGGAAACAACGTGCCTTCAGGTGACTTTTCCAGAGAGTGGGCTGAAGCCCAGCGCATGATGAGGGAACTGCGGAACAGGAACTTTGGAAAGCACCTCAGAGAAGCAGAAGCT... | pathogenic | 288,376 |
Located at chromosome 18 position 23903036, the variant affecting gene LAMA3 (laminin subunit alpha 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GAGTTTCCTTTCCCATCCCCTCCAAAGTTCAAGGAAAACCATGAAATGAGTAGAAACTCGATTCTCCCTTTGTAGTTTTTATAACCCAGCTTCAGTATGCTCATCTGTCAAATAGAAAACATGAGGTGATGTATTACAGTGCTGAACCGGATAAGGACCTGGCAGAAAACCCACCAGGGGGAGAACAATGGGCTTGCTAACAGTATCCGGGATTCTTTAAATGAATACGAAGCCAAACTCAGTGACCTTCGTGCTCGGCTGCAGGAGGCAGCTGCCCAAGCCAAGCAGGCAAATGGCTTGAACCAAGAAAACGAGAGAGC... | GAGTTTCCTTTCCCATCCCCTCCAAAGTTCAAGGAAAACCATGAAATGAGTAGAAACTCGATTCTCCCTTTGTAGTTTTTATAACCCAGCTTCAGTATGCTCATCTGTCAAATAGAAAACATGAGGTGATGTATTACAGTGCTGAACCGGATAAGGACCTGGCAGAAAACCCACCAGGGGGAGAACAATGGGCTTGCTAACAGTATCCGGGATTCTTTAAATGAATACGAAGCCAAACTCAGTGACCTTCGTGCTCGGCTGCAGGAGGCAGCTGCCCAAGCCAAGCAGGCAAATGGCTTGAACCAAGAAAACGAGAGAGC... | pathogenic | 288,379 |
Mutation at chromosome 18, position 23904582, within LAMA3 (laminin subunit alpha 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GATTATGCCAAGGTAAGGGAGCAGACCCAACTTTATAGGCCTCTGAACTCTGGCAGCCTTCCAGCCTGGCATTCTCAGGTTCCGTGTGACCTCTCGGTCAAGTGCCTGCTGTGTTCTCATTGGTACTGGCTGATGGTTAGTGATGGTTTATTTACATAAAATCTTTTGGTCTGTTTCACAAACCAGATTTTGATAATATACCCATCTCATTGGGCAAGTTGACCCCTACTGTAGAAACCTTCTTCAGCAGTGATAGCAATTGTTTCATTGGCATATCATTTAAGGAAACTATGGTGACGTACCTCCACTACAAAAAGAAC... | GATTATGCCAAGGTAAGGGAGCAGACCCAACTTTATAGGCCTCTGAACTCTGGCAGCCTTCCAGCCTGGCATTCTCAGGTTCCGTGTGACCTCTCGGTCAAGTGCCTGCTGTGTTCTCATTGGTACTGGCTGATGGTTAGTGATGGTTTATTTACATAAAATCTTTTGGTCTGTTTCACAAACCAGATTTTGATAATATACCCATCTCATTGGGCAAGTTGACCCCTACTGTAGAAACCTTCTTCAGCAGTGATAGCAATTGTTTCATTGGCATATCATTTAAGGAAACTATGGTGACGTACCTCCACTACAAAAAGAAC... | pathogenic | 288,383 |
Gene LAMA3 (laminin subunit alpha 3) variant at chromosome position 23904644 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | AGCCTGGCATTCTCAGGTTCCGTGTGACCTCTCGGTCAAGTGCCTGCTGTGTTCTCATTGGTACTGGCTGATGGTTAGTGATGGTTTATTTACATAAAATCTTTTGGTCTGTTTCACAAACCAGATTTTGATAATATACCCATCTCATTGGGCAAGTTGACCCCTACTGTAGAAACCTTCTTCAGCAGTGATAGCAATTGTTTCATTGGCATATCATTTAAGGAAACTATGGTGACGTACCTCCACTACAAAAAGAACTGATTTCCTATCACTTTGTAATTGCCTAGACAATGTTCAGGTTCAAGAAAGCATTCTGACTT... | AGCCTGGCATTCTCAGGTTCCGTGTGACCTCTCGGTCAAGTGCCTGCTGTGTTCTCATTGGTACTGGCTGATGGTTAGTGATGGTTTATTTACATAAAATCTTTTGGTCTGTTTCACAAACCAGATTTTGATAATATACCCATCTCATTGGGCAAGTTGACCCCTACTGTAGAAACCTTCTTCAGCAGTGATAGCAATTGTTTCATTGGCATATCATTTAAGGAAACTATGGTGACGTACCTCCACTACAAAAAGAACTGATTTCCTATCACTTTGTAATTGCCTAGACAATGTTCAGGTTCAAGAAAGCATTCTGACTT... | pathogenic | 288,385 |
Gene LAMA3 (laminin subunit alpha 3) variant at chromosome position 23914540 on chromosome 18: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | AAATGCCTTATGACACAGCTCCGGAAACAGCTTCATGAGTTTATAATCTGGGTCTTGGAGATTATGATCCAGGGCTTAGAGACATTCACATTCCCTTGCTCCTTATCATAACAACTCAGGAAAGGCTGATACATGGCTACGAGTCACAAACTAGCTCTCTGAGCACACCTACTTTCTTCACAGGACAGTGTTTGACACCATGTAACTTACTCCTCACAGGTTGCTGTCCCCATGAGGTTCAATGGTAAATCTGGAGTCGAAGTCCGACTGCCAAATGACCTGGAAGATTTGAAAGGATATACATCTCTGTCCTTGTTTCT... | AAATGCCTTATGACACAGCTCCGGAAACAGCTTCATGAGTTTATAATCTGGGTCTTGGAGATTATGATCCAGGGCTTAGAGACATTCACATTCCCTTGCTCCTTATCATAACAACTCAGGAAAGGCTGATACATGGCTACGAGTCACAAACTAGCTCTCTGAGCACACCTACTTTCTTCACAGGACAGTGTTTGACACCATGTAACTTACTCCTCACAGGTTGCTGTCCCCATGAGGTTCAATGGTAAATCTGGAGTCGAAGTCCGACTGCCAAATGACCTGGAAGATTTGAAAGGATATACATCTCTGTCCTTGTTTCT... | pathogenic | 288,395 |
Assess the variant on chromosome 18, position 23921506, impacting LAMA3 (laminin subunit alpha 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_2A,_intermediate', 'Epidermolysis_bullosa,_junctional_2B,_severe', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz', 'Laryngo-onycho-cutaneous_syndrome'] | GGAAGAATATGCAAAGGAATGCTGTTAATAGGTTGTTTATTTCATCACAACTGTGAAGAGCTGTATCAAGGAAAAGTTTGGGGGTGAAATGAGGATGTACAACATAAAAGACACTTGAGCAAAGGAAATGCTTCCTCTGAGATCAGGAGGACAGCATTTGAACAGGACATGGGGACAGGCAAGACGGGGGATCCAGGCAGAGGGAGAGGCATGAAGAAGGCCTGGAGGTGGGAAGGGCAGGGAGCACTCAGTGGAACAGTGGCTGCGGGGCTGGAGAGCCAGAGGCAGTGCTGAGAGAGAGGCAGATGCCACGCAGCATC... | GGAAGAATATGCAAAGGAATGCTGTTAATAGGTTGTTTATTTCATCACAACTGTGAAGAGCTGTATCAAGGAAAAGTTTGGGGGTGAAATGAGGATGTACAACATAAAAGACACTTGAGCAAAGGAAATGCTTCCTCTGAGATCAGGAGGACAGCATTTGAACAGGACATGGGGACAGGCAAGACGGGGGATCCAGGCAGAGGGAGAGGCATGAAGAAGGCCTGGAGGTGGGAAGGGCAGGGAGCACTCAGTGGAACAGTGGCTGCGGGGCTGGAGAGCCAGAGGCAGTGCTGAGAGAGAGGCAGATGCCACGCAGCATC... | pathogenic | 288,406 |
Clinical classification of chromosome 18, position 23932224, gene LAMA3 (laminin subunit alpha 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic | AATTGAAATGACAAGTGCTGAGATTGCACATTTTTTAAATTAATGATTGACAGGAAGAGTCAAATTATCTTGCCCAAATTTACATCTTCAGAGTTCAACATGGAGAATTGGACTTCCCAAAAATAATGACTAGGAAATAAAAAATTTATAATGACTGAAGAGAAGAAATCATTGTAATATTCTTATATTAAAAATTGAGGAATCGAGTCTTTGCTGTAAAATTTATTTAGCAATGAATTGATCCGATAGAAATAACTTCAGCCAAAGAAAAATAAAAATAGAAAAATTTAGACTGGGCATGACGGCTCACACCTGTAATC... | AATTGAAATGACAAGTGCTGAGATTGCACATTTTTTAAATTAATGATTGACAGGAAGAGTCAAATTATCTTGCCCAAATTTACATCTTCAGAGTTCAACATGGAGAATTGGACTTCCCAAAAATAATGACTAGGAAATAAAAAATTTATAATGACTGAAGAGAAGAAATCATTGTAATATTCTTATATTAAAAATTGAGGAATCGAGTCTTTGCTGTAAAATTTATTTAGCAATGAATTGATCCGATAGAAATAACTTCAGCCAAAGAAAAATAAAAATAGAAAAATTTAGACTGGGCATGACGGCTCACACCTGTAATC... | pathogenic | 288,422 |
Benign or pathogenic: chromosome 18, position 23932287, gene LAMA3 (laminin subunit alpha 3) variant? Disease(s) if pathogenic? | pathogenic; ['Epidermolysis_bullosa,_junctional_2A,_intermediate', 'Epidermolysis_bullosa,_junctional_2B,_severe', 'Laryngo-onycho-cutaneous_syndrome'] | ATTATCTTGCCCAAATTTACATCTTCAGAGTTCAACATGGAGAATTGGACTTCCCAAAAATAATGACTAGGAAATAAAAAATTTATAATGACTGAAGAGAAGAAATCATTGTAATATTCTTATATTAAAAATTGAGGAATCGAGTCTTTGCTGTAAAATTTATTTAGCAATGAATTGATCCGATAGAAATAACTTCAGCCAAAGAAAAATAAAAATAGAAAAATTTAGACTGGGCATGACGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCAAGCCAGGAGTATCTCTTGAGCCCAGGGGTCTGAGACCAGCCTAG... | ATTATCTTGCCCAAATTTACATCTTCAGAGTTCAACATGGAGAATTGGACTTCCCAAAAATAATGACTAGGAAATAAAAAATTTATAATGACTGAAGAGAAGAAATCATTGTAATATTCTTATATTAAAAATTGAGGAATCGAGTCTTTGCTGTAAAATTTATTTAGCAATGAATTGATCCGATAGAAATAACTTCAGCCAAAGAAAAATAAAAATAGAAAAATTTAGACTGGGCATGACGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCAAGCCAGGAGTATCTCTTGAGCCCAGGGGTCTGAGACCAGCCTAG... | pathogenic | 288,423 |
Is the genetic change at chromosome 18, position 31018105, within gene DSC3 (desmocollin 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | TACAAATGCCACGGTAATGCCCAGAAGTTACCTGATATGATCTAAAAGGGGAGAAACCCTCAGTTCCAGGAACTCCTGCCAGTTTTCCAGAAAATGCATGAATAACCCACCCCTTATTTAGCATATAATTAAGGAGTAGTTATAAATACAGCTAGCCAGCAATCCACAATTGCTACTCTGCCTAGTGAGCAGCCCTGCTCTGTCTGTGAAGCCACCATTTTCCTTTGTCTGTTGCTCTAATAAGCTTGCTTTGCTTTCACTTTACTCTACTGTCTTGCTCTTGAATTCTTTTCCAGGTGAAGCCAGGAACCCTCTGGGCT... | TACAAATGCCACGGTAATGCCCAGAAGTTACCTGATATGATCTAAAAGGGGAGAAACCCTCAGTTCCAGGAACTCCTGCCAGTTTTCCAGAAAATGCATGAATAACCCACCCCTTATTTAGCATATAATTAAGGAGTAGTTATAAATACAGCTAGCCAGCAATCCACAATTGCTACTCTGCCTAGTGAGCAGCCCTGCTCTGTCTGTGAAGCCACCATTTTCCTTTGTCTGTTGCTCTAATAAGCTTGCTTTGCTTTCACTTTACTCTACTGTCTTGCTCTTGAATTCTTTTCCAGGTGAAGCCAGGAACCCTCTGGGCT... | pathogenic | 288,606 |
Mutation found at chromosome 18 position 31068033, gene DSC2 (desmocollin 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ATCATTTATTATTATCAGGAGTGCCTTTTAGGTGGACCGCTCTGTATGACTCTCATGCTTCAAAACTATTTTTTATTCAAGTGACTTACAATGGCCCTAGGAAACAAGTTCTGTTATTATCCCCCATTTTAAAATGATGAAAATGGACAAAGCAAAAGCAAGCAACTTAACCAATACCCCATGGCCTCACAGCCTTTAGAATAGTCATATTATATAAATATGGCAATAACAATGCACTGAAAATGTCTCCAAAACAAACTCTACATTTTAAAAAATGTATAACAGGAATCTAAGGAAGGGGTCTTACTTCTCTGATTCAG... | ATCATTTATTATTATCAGGAGTGCCTTTTAGGTGGACCGCTCTGTATGACTCTCATGCTTCAAAACTATTTTTTATTCAAGTGACTTACAATGGCCCTAGGAAACAAGTTCTGTTATTATCCCCCATTTTAAAATGATGAAAATGGACAAAGCAAAAGCAAGCAACTTAACCAATACCCCATGGCCTCACAGCCTTTAGAATAGTCATATTATATAAATATGGCAATAACAATGCACTGAAAATGTCTCCAAAACAAACTCTACATTTTAAAAAATGTATAACAGGAATCTAAGGAAGGGGTCTTACTTCTCTGATTCAG... | benign | 288,623 |
Gene mutation in DSC2 (desmocollin 2) at chromosome 18, position 31070789—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_11', 'Cardiovascular_phenotype'] | TAACTAAATTAAAATTGAGGAAAAATAATAGCTTTCAATTAGTAGAATTAGTAGATTCATAATTAATTGAAAATTATAGTCAGAATCCAGTTAGTTATTTATAAAGTTTAAAGAAAATTAAAATAGATTTGTAGGCCACTTAGGAAAACTCACTTCACCAAGACGGGGCTGAGTAAAACTGTGCCACTCCGAGTAAGTGTATCTGCAGTTGTCCACCTCCGTGTGTCCTCCCCTGCAGGAGTCCAGGGTGTGATGGTGGCCAGCCCCCCGGCAGGATTCCGAGGTCTGGTGTCCTCCTTTCACCATTTCGATGGTCTCCT... | TAACTAAATTAAAATTGAGGAAAAATAATAGCTTTCAATTAGTAGAATTAGTAGATTCATAATTAATTGAAAATTATAGTCAGAATCCAGTTAGTTATTTATAAAGTTTAAAGAAAATTAAAATAGATTTGTAGGCCACTTAGGAAAACTCACTTCACCAAGACGGGGCTGAGTAAAACTGTGCCACTCCGAGTAAGTGTATCTGCAGTTGTCCACCTCCGTGTGTCCTCCCCTGCAGGAGTCCAGGGTGTGATGGTGGCCAGCCCCCCGGCAGGATTCCGAGGTCTGGTGTCCTCCTTTCACCATTTCGATGGTCTCCT... | pathogenic | 288,669 |
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