question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Does the variant impacting ANKRD1 (ankyrin repeat domain 1) on chromosome 10, position 90918983, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | benign | 165,717 |
Clinically, how would you classify the variant at chromosome 10, position 90918983, gene ANKRD1 (ankyrin repeat domain 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | benign | 165,718 |
Regarding the variant found on chromosome 10 at position 90918983 in gene ANKRD1 (ankyrin repeat domain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | benign | 165,719 |
Is the variant located on chromosome 10 at position 90918983, gene ANKRD1 (ankyrin repeat domain 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | CGTGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGA... | benign | 165,720 |
Evaluate if the mutation on chromosome 10 at position 90918985 in ANKRD1 (ankyrin repeat domain 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGG... | TGTATAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGG... | benign | 165,721 |
A genetic alteration at chromosome 10, position 90918989, in gene ANKRD1 (ankyrin repeat domain 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTG... | TAGTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTG... | benign | 165,723 |
Is the chromosome 10, position 90918991 variant in ANKRD1 (ankyrin repeat domain 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAA... | GTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAA... | benign | 165,725 |
Variant at chromosome 10, position 90918991, gene ANKRD1 (ankyrin repeat domain 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAA... | GTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAA... | benign | 165,726 |
Evaluate the clinical significance of the mutation at chromosome 10, position 90918991 in gene ANKRD1 (ankyrin repeat domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAA... | GTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAA... | benign | 165,728 |
Regarding the variant at chromosome 10 and position 90918991, affecting gene ANKRD1 (ankyrin repeat domain 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAA... | GTTACCCCTAGGAGACCCTCTCCTCACTGATCTATGTGGTTGGTATGCCCCTGGCCTTAATCCCACACTCATGATTTTTAGTTTCCATGCAAACTTCATATTTTGTTTCTTGATTTTTTTTTCAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAA... | benign | 165,729 |
Benign or pathogenic: chromosome 10, position 90919113, gene ANKRD1 (ankyrin repeat domain 1) variant? Disease(s) if pathogenic? | benign | CAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAATAGCAGCTACTTTCCATAGATGCAATTCATTTCATATGCAGTCTAGCCCCAAATCTCATTGGTAGCAATTGGCATCTATCATATAAAGTGTGCAGCTAGAGAATTCGTATATGTTGCTGGCA... | CAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAATAGCAGCTACTTTCCATAGATGCAATTCATTTCATATGCAGTCTAGCCCCAAATCTCATTGGTAGCAATTGGCATCTATCATATAAAGTGTGCAGCTAGAGAATTCGTATATGTTGCTGGCA... | benign | 165,731 |
Evaluate if the mutation on chromosome 10 at position 90919113 in ANKRD1 (ankyrin repeat domain 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAATAGCAGCTACTTTCCATAGATGCAATTCATTTCATATGCAGTCTAGCCCCAAATCTCATTGGTAGCAATTGGCATCTATCATATAAAGTGTGCAGCTAGAGAATTCGTATATGTTGCTGGCA... | CAATGTGTTTATGTTTTGGATTCAATTTTGGCCAAGTCCCTTGGATTTCTTTGATATCCCGTTGCCGCTTTGCTATAAAGTCAAAATGAGCTGCATTTAAATACATAAAGAATTTTCCCAGCTCAATCTTCAGTTCATAAATTATGCTGCATACTGGTCTTCGTAGAAATCACAGTGATTGAATTATTGAGGTCTGAATAGCAGCTACTTTCCATAGATGCAATTCATTTCATATGCAGTCTAGCCCCAAATCTCATTGGTAGCAATTGGCATCTATCATATAAAGTGTGCAGCTAGAGAATTCGTATATGTTGCTGGCA... | benign | 165,732 |
Variant in gene KIF11 (kinesin family member 11), located at chromosome 10 position 92609070: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | CCACCTCGGCCTCCCAAAGTGTTGGGATTATAGGCTTGAGCCACTGTGCCTGGCTTGTTTTTTGTTTTTCTAGTCTATCACTAAGAGTCATATGGGTGCATGTTTCTTTTTGATTTAACACTTGTTAATCTTTACAGGTATGGCCAAACTGGCACTGGAAAAACTTTTACAATGGAAGGTGAAAGGTCACCTAATGAAGAGTATACCTGGGAAGAGGTATTTATTGTTTATAACATACTTTTATCTCTAATGTGACTGAAATTTAACTGTATAAAACTTGTTTGAGGGCCTCTGTCTTGGAATAGAGATCAGAGTACCTA... | CCACCTCGGCCTCCCAAAGTGTTGGGATTATAGGCTTGAGCCACTGTGCCTGGCTTGTTTTTTGTTTTTCTAGTCTATCACTAAGAGTCATATGGGTGCATGTTTCTTTTTGATTTAACACTTGTTAATCTTTACAGGTATGGCCAAACTGGCACTGGAAAAACTTTTACAATGGAAGGTGAAAGGTCACCTAATGAAGAGTATACCTGGGAAGAGGTATTTATTGTTTATAACATACTTTTATCTCTAATGTGACTGAAATTTAACTGTATAAAACTTGTTTGAGGGCCTCTGTCTTGGAATAGAGATCAGAGTACCTA... | pathogenic | 165,812 |
Does the genetic variant at chromosome 10, position 92609429, impacting gene KIF11 (kinesin family member 11), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | ATTAAAGTGCATGGTATGACTCCTGTTTAAGAAACAGCCTCAATGGAAGAGGAAGGACCAATATATATGGCACAGTTATATGATAAAAGAGGAGTCTATTTATGACAGAATGGTTGGAGCAGAATATTGTAGAAAAGTTGGAATATGAGTGAAGCTTGAAGGCAGGGAGGGCTTTGTATTGAAGGAATGGGTCTCAGAAAGTTAGCATGGCCAGGGGAAGTATAGTACTTTATTCATGATGATCCTAAGTGTTCAAGAAATTAAGATGAATGTATTGTTTAATATTGCAGAAAGCATATACTATGTTTTACAAAGATTTC... | ATTAAAGTGCATGGTATGACTCCTGTTTAAGAAACAGCCTCAATGGAAGAGGAAGGACCAATATATATGGCACAGTTATATGATAAAAGAGGAGTCTATTTATGACAGAATGGTTGGAGCAGAATATTGTAGAAAAGTTGGAATATGAGTGAAGCTTGAAGGCAGGGAGGGCTTTGTATTGAAGGAATGGGTCTCAGAAAGTTAGCATGGCCAGGGGAAGTATAGTACTTTATTCATGATGATCCTAAGTGTTCAAGAAATTAAGATGAATGTATTGTTTAATATTGCAGAAAGCATATACTATGTTTTACAAAGATTTC... | pathogenic | 165,816 |
Variant chromosome 10, position 92609441, gene KIF11 (kinesin family member 11): benign or pathogenic? Disease(s)? | pathogenic | GGTATGACTCCTGTTTAAGAAACAGCCTCAATGGAAGAGGAAGGACCAATATATATGGCACAGTTATATGATAAAAGAGGAGTCTATTTATGACAGAATGGTTGGAGCAGAATATTGTAGAAAAGTTGGAATATGAGTGAAGCTTGAAGGCAGGGAGGGCTTTGTATTGAAGGAATGGGTCTCAGAAAGTTAGCATGGCCAGGGGAAGTATAGTACTTTATTCATGATGATCCTAAGTGTTCAAGAAATTAAGATGAATGTATTGTTTAATATTGCAGAAAGCATATACTATGTTTTACAAAGATTTCCATGAATTTAAG... | GGTATGACTCCTGTTTAAGAAACAGCCTCAATGGAAGAGGAAGGACCAATATATATGGCACAGTTATATGATAAAAGAGGAGTCTATTTATGACAGAATGGTTGGAGCAGAATATTGTAGAAAAGTTGGAATATGAGTGAAGCTTGAAGGCAGGGAGGGCTTTGTATTGAAGGAATGGGTCTCAGAAAGTTAGCATGGCCAGGGGAAGTATAGTACTTTATTCATGATGATCCTAAGTGTTCAAGAAATTAAGATGAATGTATTGTTTAATATTGCAGAAAGCATATACTATGTTTTACAAAGATTTCCATGAATTTAAG... | pathogenic | 165,817 |
Is the variant located on chromosome 10 at position 92616740, gene KIF11 (kinesin family member 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Microcephaly_with_or_without_chorioretinopathy,_lymphedema,_or_intellectual_disability'] | AGAGAGGAAAACCAAGAAAAGTAACAAAGATGGTAAAATGTACGCTTATTTTATTGCTATCATCTGCCTTAAGTGGAAATTTTATTTATTTATTAATTTTTTTACTTTTAGAGGTAGAGTCTCATACTGTTGCCAAGGCCGCAGTACAGTAGCATGATCATGGCTCACTGCAACTTAAATTCCTGGACTCAAGTGATTCCCCCAACCACAGCCTCCTCCTGAGTAGCTAGTACTACAAGTGTGAGCCACCAGGCCTGGCTAAGTTTTGTTTTGTTTTGTTTTAAATAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGG... | AGAGAGGAAAACCAAGAAAAGTAACAAAGATGGTAAAATGTACGCTTATTTTATTGCTATCATCTGCCTTAAGTGGAAATTTTATTTATTTATTAATTTTTTTACTTTTAGAGGTAGAGTCTCATACTGTTGCCAAGGCCGCAGTACAGTAGCATGATCATGGCTCACTGCAACTTAAATTCCTGGACTCAAGTGATTCCCCCAACCACAGCCTCCTCCTGAGTAGCTAGTACTACAAGTGTGAGCCACCAGGCCTGGCTAAGTTTTGTTTTGTTTTGTTTTAAATAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGG... | pathogenic | 165,829 |
The mutation in gene KIF11 (kinesin family member 11) at chromosome 10, position 92628868—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CGCCATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCTCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCTGCTAATTTTGTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTGCTGACTTCGTGATCTTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCTGGCTGTAGAAGATCCATTTTTAATAAAAAGCTAATATATTTCATCAAAAGACTATTAGAATTAACTCTTCTCTTACAGCTCT... | CGCCATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCTCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCTGCTAATTTTGTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTGCTGACTTCGTGATCTTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCTGGCTGTAGAAGATCCATTTTTAATAAAAAGCTAATATATTTCATCAAAAGACTATTAGAATTAACTCTTCTCTTACAGCTCT... | pathogenic | 165,836 |
Variant in KIF11 (kinesin family member 11), chromosome 10, position 92637396—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | TCAGAGATATTGCAGGTTTGCTTCCAGACCACTGCAATAAAGTGAATATTACAATAAAGCAAGTCATGAATTTTTTGCTTTCCCGGTGCATATAAAGGTTATGTTGACCAGGCGCAGTGGCTCACACCTGTAATTCCAGCACACGCCTGGTGGGACAATCAGAACACAACGTTTATCAGTTACATTTGCTGTCTTATAGGGGTACAGTTTATGGTACCCCAAGACAATTACAATAGTAACATCAAAGATCATTGATCACAGTGTATAATGAAAAAGTTAGAAATACTGTAGTAGTTACCAACATGTGATGCAGAGACAGA... | TCAGAGATATTGCAGGTTTGCTTCCAGACCACTGCAATAAAGTGAATATTACAATAAAGCAAGTCATGAATTTTTTGCTTTCCCGGTGCATATAAAGGTTATGTTGACCAGGCGCAGTGGCTCACACCTGTAATTCCAGCACACGCCTGGTGGGACAATCAGAACACAACGTTTATCAGTTACATTTGCTGTCTTATAGGGGTACAGTTTATGGTACCCCAAGACAATTACAATAGTAACATCAAAGATCATTGATCACAGTGTATAATGAAAAAGTTAGAAATACTGTAGTAGTTACCAACATGTGATGCAGAGACAGA... | pathogenic | 165,852 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 92639807, gene KIF11 (kinesin family member 11): what disease(s) if pathogenic? | pathogenic | CAGAACCACAATATGACAAAACAGTCCTTTTCTCACATCAAGATGAAAGATGAATCTGGAAAAACATACCTTTAGAGAAGAATGGTTATAACATTTAAAGTGAAAATGTATCTACATTAAAACCTGCTAAGTTGTTTCTAGGATGGCATGGATAGTTGTCTTTCATAAACCAAGTCCTACTTTCTCTTATTTCTGTCTCACTGATAGACATTTAAAACATAGTAAATCGATACAACTTTTAATTCTTATTGATTATAAATGTAATTCATGATTTATCTTCCCTGTAAACTGTTCCTCATTATATGAGGCTTTAAACCAAA... | CAGAACCACAATATGACAAAACAGTCCTTTTCTCACATCAAGATGAAAGATGAATCTGGAAAAACATACCTTTAGAGAAGAATGGTTATAACATTTAAAGTGAAAATGTATCTACATTAAAACCTGCTAAGTTGTTTCTAGGATGGCATGGATAGTTGTCTTTCATAAACCAAGTCCTACTTTCTCTTATTTCTGTCTCACTGATAGACATTTAAAACATAGTAAATCGATACAACTTTTAATTCTTATTGATTATAAATGTAATTCATGATTTATCTTCCCTGTAAACTGTTCCTCATTATATGAGGCTTTAAACCAAA... | pathogenic | 165,858 |
Located at chromosome 10 position 92645396, the variant affecting gene KIF11 (kinesin family member 11)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Microcephaly_with_or_without_chorioretinopathy,_lymphedema,_or_intellectual_disability'] | ACATTTTAAGATAATTTGAATCCATTATCAAATAATTTGCTGTTTCATGTGTAGTGAAAGGACATTATAATAGTATATTCCTGTTTCCTCTTTCCCGTTTGTCATTATTTTCATATGTTTTACTTAGGTGTTTATATGTGCAATAAACACCTAATACATTGTTACTTGAATTGCTTTATCTATTTTCTTTTTTAATGTATCTACTAGATTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCC... | ACATTTTAAGATAATTTGAATCCATTATCAAATAATTTGCTGTTTCATGTGTAGTGAAAGGACATTATAATAGTATATTCCTGTTTCCTCTTTCCCGTTTGTCATTATTTTCATATGTTTTACTTAGGTGTTTATATGTGCAATAAACACCTAATACATTGTTACTTGAATTGCTTTATCTATTTTCTTTTTTAATGTATCTACTAGATTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCC... | pathogenic | 165,861 |
Clinical significance of chromosome 10, position 92645403, gene KIF11 (kinesin family member 11): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Microcephaly_with_or_without_chorioretinopathy,_lymphedema,_or_intellectual_disability'] | AAGATAATTTGAATCCATTATCAAATAATTTGCTGTTTCATGTGTAGTGAAAGGACATTATAATAGTATATTCCTGTTTCCTCTTTCCCGTTTGTCATTATTTTCATATGTTTTACTTAGGTGTTTATATGTGCAATAAACACCTAATACATTGTTACTTGAATTGCTTTATCTATTTTCTTTTTTAATGTATCTACTAGATTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCA... | AAGATAATTTGAATCCATTATCAAATAATTTGCTGTTTCATGTGTAGTGAAAGGACATTATAATAGTATATTCCTGTTTCCTCTTTCCCGTTTGTCATTATTTTCATATGTTTTACTTAGGTGTTTATATGTGCAATAAACACCTAATACATTGTTACTTGAATTGCTTTATCTATTTTCTTTTTTAATGTATCTACTAGATTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCA... | pathogenic | 165,862 |
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 92645494, gene KIF11 (kinesin family member 11): what disease(s) if pathogenic? | pathogenic | TTGTCATTATTTTCATATGTTTTACTTAGGTGTTTATATGTGCAATAAACACCTAATACATTGTTACTTGAATTGCTTTATCTATTTTCTTTTTTAATGTATCTACTAGATTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATATTGGC... | TTGTCATTATTTTCATATGTTTTACTTAGGTGTTTATATGTGCAATAAACACCTAATACATTGTTACTTGAATTGCTTTATCTATTTTCTTTTTTAATGTATCTACTAGATTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATATTGGC... | pathogenic | 165,864 |
A mutation at chromosome position 92645527 on chromosome 10 in gene KIF11 (kinesin family member 11): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinal_dystrophy'] | TTATATGTGCAATAAACACCTAATACATTGTTACTTGAATTGCTTTATCTATTTTCTTTTTTAATGTATCTACTAGATTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATATTGGCCAGGCTAGTCTCAAACTCCTGACCTTGTGATTG... | TTATATGTGCAATAAACACCTAATACATTGTTACTTGAATTGCTTTATCTATTTTCTTTTTTAATGTATCTACTAGATTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATATTGGCCAGGCTAGTCTCAAACTCCTGACCTTGTGATTG... | pathogenic | 165,866 |
A genetic variant on chromosome 10, position 92648358, affects the gene KIF11 (kinesin family member 11). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases'] | TAGGTTATTGTTCTGGTAACTAAAGGATACTTGATAGGTTTATGGATTTGCTTGAACTTAACGCTTGCATGAGCCCTTTGTAACTTGGTTTTTTCTTTCTTTGCATTAATAGGATTTTACTAACATTCTCAGGAAGTAGGTACAAAGAATTAAAATTTTTAATCTATATAAGCTGTTTTCACTAAAAGGAACTAGAGTTTGTATACAAATAGCTAATTTCAGATTTGTGATAGGAAATGTATAATATATGAGCCTAGAGATCTTGTCATACCAGAGAGTAAGGAAGCTGTTAAAGATTTCTGAGGTTGTCAAAAGGTCTT... | TAGGTTATTGTTCTGGTAACTAAAGGATACTTGATAGGTTTATGGATTTGCTTGAACTTAACGCTTGCATGAGCCCTTTGTAACTTGGTTTTTTCTTTCTTTGCATTAATAGGATTTTACTAACATTCTCAGGAAGTAGGTACAAAGAATTAAAATTTTTAATCTATATAAGCTGTTTTCACTAAAAGGAACTAGAGTTTGTATACAAATAGCTAATTTCAGATTTGTGATAGGAAATGTATAATATATGAGCCTAGAGATCTTGTCATACCAGAGAGTAAGGAAGCTGTTAAAGATTTCTGAGGTTGTCAAAAGGTCTT... | pathogenic | 165,871 |
Variant at chromosome position 93662577, chromosome 10, gene PDE6C (phosphodiesterase 6C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['PDE6C-related_disorder', 'Retinal_dystrophy'] | CTGGTTTTATGACCTACTTCAGGGGAGAAGGTCGGGGGAAGGTGAGACTGATCTTCCTGCTGCTTTAGTTTCCTCAAATTCCGTCACCTTAAAATATTTGGGGGCAGGGTGTCCTGAACTCCGTCACCATCAAGTCCAAAACCAAATGCTTCCTCTCCTTCCACCTCGACATGCCTGCTCTTCTTCCTCTGTTCTTTATCGATGAGGTCACCCAAGCTAGAAACCTGGGGTCCTGCTTGAGCTTATCTCCCTCATTTCAAAATCATTTATATCAGCCTCGCTAGTACCTCAGTTCTGACTTTTATCAGAACTATGGTAGC... | CTGGTTTTATGACCTACTTCAGGGGAGAAGGTCGGGGGAAGGTGAGACTGATCTTCCTGCTGCTTTAGTTTCCTCAAATTCCGTCACCTTAAAATATTTGGGGGCAGGGTGTCCTGAACTCCGTCACCATCAAGTCCAAAACCAAATGCTTCCTCTCCTTCCACCTCGACATGCCTGCTCTTCTTCCTCTGTTCTTTATCGATGAGGTCACCCAAGCTAGAAACCTGGGGTCCTGCTTGAGCTTATCTCCCTCATTTCAAAATCATTTATATCAGCCTCGCTAGTACCTCAGTTCTGACTTTTATCAGAACTATGGTAGC... | pathogenic | 165,982 |
Variant in gene PDE6C (phosphodiesterase 6C), located at chromosome 10 position 93662639: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Achromatopsia_5', 'Cone_dystrophy_4', 'Retinal_dystrophy'] | CTTTAGTTTCCTCAAATTCCGTCACCTTAAAATATTTGGGGGCAGGGTGTCCTGAACTCCGTCACCATCAAGTCCAAAACCAAATGCTTCCTCTCCTTCCACCTCGACATGCCTGCTCTTCTTCCTCTGTTCTTTATCGATGAGGTCACCCAAGCTAGAAACCTGGGGTCCTGCTTGAGCTTATCTCCCTCATTTCAAAATCATTTATATCAGCCTCGCTAGTACCTCAGTTCTGACTTTTATCAGAACTATGGTAGCAGCCTCCTAATAGATGCTCACATCAACTCCACAAGTCATCCTCTGACTTGCTGCCAGGATGT... | CTTTAGTTTCCTCAAATTCCGTCACCTTAAAATATTTGGGGGCAGGGTGTCCTGAACTCCGTCACCATCAAGTCCAAAACCAAATGCTTCCTCTCCTTCCACCTCGACATGCCTGCTCTTCTTCCTCTGTTCTTTATCGATGAGGTCACCCAAGCTAGAAACCTGGGGTCCTGCTTGAGCTTATCTCCCTCATTTCAAAATCATTTATATCAGCCTCGCTAGTACCTCAGTTCTGACTTTTATCAGAACTATGGTAGCAGCCTCCTAATAGATGCTCACATCAACTCCACAAGTCATCCTCTGACTTGCTGCCAGGATGT... | pathogenic | 165,983 |
Gene LGI1 (leucine rich glioma inactivated 1) variant at chromosome position 93758249 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_epilepsy_with_auditory_features'] | GGTCCTTTTGAAACACAAACCAGTTAATATCACTCCCCTGCCTGATTCTACAGAGGTGTCCCATTGCTCTGCAGATCATGAGCCAGACTTTATGTATGCCGTTCCCTCTACCTGGAGTGTTCTCACGAACCCTCTCTGTAACTCCTCCTTACCTCTGAACTCAGCTCAATCACTGCTACTTCAGGGAATTGGCCCCTGACTTCCTTGACTAGGTTAGATCTCTTTATTAGAACTGCAAGGTGCAACTGTAAGTTTATTTGGCTGGGCATGACCATGAATGGACTGTACACTCTGCTGTTGCTGGCATAGCCATCCAGGTT... | GGTCCTTTTGAAACACAAACCAGTTAATATCACTCCCCTGCCTGATTCTACAGAGGTGTCCCATTGCTCTGCAGATCATGAGCCAGACTTTATGTATGCCGTTCCCTCTACCTGGAGTGTTCTCACGAACCCTCTCTGTAACTCCTCCTTACCTCTGAACTCAGCTCAATCACTGCTACTTCAGGGAATTGGCCCCTGACTTCCTTGACTAGGTTAGATCTCTTTATTAGAACTGCAAGGTGCAACTGTAAGTTTATTTGGCTGGGCATGACCATGAATGGACTGTACACTCTGCTGTTGCTGGCATAGCCATCCAGGTT... | pathogenic | 165,988 |
Is the chromosome 10, position 93790079 variant in LGI1 (leucine rich glioma inactivated 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CCTGTGACTCAGCCTCCTCTAAATTTATGCTCTGCAGCCAGTTGCAGTTTTTACCAGCTTCAGAGGAAGGGACATCCACTTAGAAGTTAGTATGATAACTTTAAGCCACATTGTGCCAGAAAATAAACTGAGACACATAACATGGGAGTGACTCTGGACTGGTCCAAGACATCAGAAAATCTCTTCATTCAAACACCAGTCAGTAAGATGAATTATGGAGACATTCTCTTGAATAGTCTTCCTTAGCAGCATTTTATTAATTTTGCTGTATGTGGACAGCCATAGCAGTTCATTCATGTGGTCTGTTTCTAAACGTTGTT... | CCTGTGACTCAGCCTCCTCTAAATTTATGCTCTGCAGCCAGTTGCAGTTTTTACCAGCTTCAGAGGAAGGGACATCCACTTAGAAGTTAGTATGATAACTTTAAGCCACATTGTGCCAGAAAATAAACTGAGACACATAACATGGGAGTGACTCTGGACTGGTCCAAGACATCAGAAAATCTCTTCATTCAAACACCAGTCAGTAAGATGAATTATGGAGACATTCTCTTGAATAGTCTTCCTTAGCAGCATTTTATTAATTTTGCTGTATGTGGACAGCCATAGCAGTTCATTCATGTGGTCTGTTTCTAAACGTTGTT... | benign | 165,996 |
Chromosome 10, position 93790079, gene LGI1 (leucine rich glioma inactivated 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCTGTGACTCAGCCTCCTCTAAATTTATGCTCTGCAGCCAGTTGCAGTTTTTACCAGCTTCAGAGGAAGGGACATCCACTTAGAAGTTAGTATGATAACTTTAAGCCACATTGTGCCAGAAAATAAACTGAGACACATAACATGGGAGTGACTCTGGACTGGTCCAAGACATCAGAAAATCTCTTCATTCAAACACCAGTCAGTAAGATGAATTATGGAGACATTCTCTTGAATAGTCTTCCTTAGCAGCATTTTATTAATTTTGCTGTATGTGGACAGCCATAGCAGTTCATTCATGTGGTCTGTTTCTAAACGTTGTT... | CCTGTGACTCAGCCTCCTCTAAATTTATGCTCTGCAGCCAGTTGCAGTTTTTACCAGCTTCAGAGGAAGGGACATCCACTTAGAAGTTAGTATGATAACTTTAAGCCACATTGTGCCAGAAAATAAACTGAGACACATAACATGGGAGTGACTCTGGACTGGTCCAAGACATCAGAAAATCTCTTCATTCAAACACCAGTCAGTAAGATGAATTATGGAGACATTCTCTTGAATAGTCTTCCTTAGCAGCATTTTATTAATTTTGCTGTATGTGGACAGCCATAGCAGTTCATTCATGTGGTCTGTTTCTAAACGTTGTT... | benign | 165,997 |
Does the variant on chromosome 10 at location 93797708 affecting gene LGI1 (leucine rich glioma inactivated 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_dominant_epilepsy_with_auditory_features', 'Epilepsy,_familial_temporal_lobe,_1'] | GGAATCTTTCATGTAGAGTGCAGACACGGCCACAGAATCCTTCTCAACACAGTTCCCCAGACAATCACACGCAATGAGCCAATCAGTATTGGTACATGTGTTGGAATCTGGTGGCCATCCTTAATCTAGTCTAAAGTCTCATTGTACAGAAAAGAAAACTGAGCCTCAGAGAAGTTAAATGATTTTCTTAAGATCATACAATCAGTTTAGCCCTGAAAAGAGTCAGAAATAAAACTATTTTGCCTATGGATGAAGCCAATTAGTAGAAAGAATTAATGTAGAACTTTCTGCCCCGCACTAGCGCTGTAGTCAGAAGAGGC... | GGAATCTTTCATGTAGAGTGCAGACACGGCCACAGAATCCTTCTCAACACAGTTCCCCAGACAATCACACGCAATGAGCCAATCAGTATTGGTACATGTGTTGGAATCTGGTGGCCATCCTTAATCTAGTCTAAAGTCTCATTGTACAGAAAAGAAAACTGAGCCTCAGAGAAGTTAAATGATTTTCTTAAGATCATACAATCAGTTTAGCCCTGAAAAGAGTCAGAAATAAAACTATTTTGCCTATGGATGAAGCCAATTAGTAGAAAGAATTAATGTAGAACTTTCTGCCCCGCACTAGCGCTGTAGTCAGAAGAGGC... | pathogenic | 166,023 |
Mutation at chromosome 10, position 94254246, within PLCE1 (phospholipase C epsilon 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Nephrotic_syndrome,_type_3'] | ATTCTTCTGTGGCCGTCTGTGCTCTTCCACCTCTTGGAATTTTCTGGGAGACATTAATATATTTACTTCCCCATTGCTTGATGCTTCCTATTGTGTTCACCATGTGGCTCTTTCACAGGAGGATGGACGGTATGAAGGCCCAACTTTGGCTCACGCTGTGGAGTTGTTTGGTGGCAGACGGTGGAGTGCTCGAAACCCCAGCCCCGGAACATCAGCAAAGAATGCTGAGAAGCCCAATATGCAGAGAAACAATACCCTGGGCATAAGCACTACCAAGAAAAAGAAGAAAATCCTCATGAGGGTAGAGTGTTATTTGTTTA... | ATTCTTCTGTGGCCGTCTGTGCTCTTCCACCTCTTGGAATTTTCTGGGAGACATTAATATATTTACTTCCCCATTGCTTGATGCTTCCTATTGTGTTCACCATGTGGCTCTTTCACAGGAGGATGGACGGTATGAAGGCCCAACTTTGGCTCACGCTGTGGAGTTGTTTGGTGGCAGACGGTGGAGTGCTCGAAACCCCAGCCCCGGAACATCAGCAAAGAATGCTGAGAAGCCCAATATGCAGAGAAACAATACCCTGGGCATAAGCACTACCAAGAAAAAGAAGAAAATCCTCATGAGGGTAGAGTGTTATTTGTTTA... | pathogenic | 166,065 |
A mutation at chromosome position 94265865 on chromosome 10 in gene PLCE1 (phospholipase C epsilon 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Nephrotic_syndrome,_type_3'] | TATTAACATATTATTAGTGTATTATTACATATTAATGTAGGTCCCAGGCTTTCTCTAACTCAGTAACTATTATAAGGAGTTGGTACATAATTTTTTGTTGTTATTCTAGAACATGCAACAGATTTAGTCTAGGTTTTCAACCTCATTAGTCATTAAATGAACATGCACTAGTTCCTACTATGCTGGCTCAGTTTTAGGAGGTGGGAATATAGCAGAGAATAAGATAAAAGTTCTGGTCCTCAATGCAGCTTACATTCTAGAAGGTGAGGCAGACAACAAAGATACGATGTAATTTCAGGTAATAATGGGGTAGGGGAAAA... | TATTAACATATTATTAGTGTATTATTACATATTAATGTAGGTCCCAGGCTTTCTCTAACTCAGTAACTATTATAAGGAGTTGGTACATAATTTTTTGTTGTTATTCTAGAACATGCAACAGATTTAGTCTAGGTTTTCAACCTCATTAGTCATTAAATGAACATGCACTAGTTCCTACTATGCTGGCTCAGTTTTAGGAGGTGGGAATATAGCAGAGAATAAGATAAAAGTTCTGGTCCTCAATGCAGCTTACATTCTAGAAGGTGAGGCAGACAACAAAGATACGATGTAATTTCAGGTAATAATGGGGTAGGGGAAAA... | pathogenic | 166,076 |
The mutation in gene PLCE1 at chromosome 10, position 94284903—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Focal_segmental_glomerulosclerosis', 'Nephrotic_syndrome', 'Nephrotic_syndrome,_type_3'] | ATTTTAACTGCATGGATGTCAGCATTCTGTTTCCAATTTCTTGGGCCCGGTTAGCATGACGTTGTGATACTTCTGTGAATACAAATGTAATGAAATGATTTATCTCATTTACTTCTTGTCAGCCTGCATGGCCCTGATTTGGTATAAGGTCCTTTTGGTCTAATCGTTTGTGCTCTGATGATGCGATACTAAATCTTGAGTGAGAAATTAGCTTTCTTGTTTTTCATTTTAAAAGGTCATCATCACGATACACTTCTAATACCTTTAGAGTCATTCCAAATAGAAAAGCAAAAAAAGAGCAAAATATAAGATTATATCTT... | ATTTTAACTGCATGGATGTCAGCATTCTGTTTCCAATTTCTTGGGCCCGGTTAGCATGACGTTGTGATACTTCTGTGAATACAAATGTAATGAAATGATTTATCTCATTTACTTCTTGTCAGCCTGCATGGCCCTGATTTGGTATAAGGTCCTTTTGGTCTAATCGTTTGTGCTCTGATGATGCGATACTAAATCTTGAGTGAGAAATTAGCTTTCTTGTTTTTCATTTTAAAAGGTCATCATCACGATACACTTCTAATACCTTTAGAGTCATTCCAAATAGAAAAGCAAAAAAAGAGCAAAATATAAGATTATATCTT... | pathogenic | 166,086 |
Evaluate this variant at chromosome 10, position 94308674, gene PLCE1 (phospholipase C epsilon 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Nephrotic_syndrome,_type_3'] | TGGAAAACAATAGTTCAGCGGTAACTGCTCAGAGAATCATTCCACTGAAAGCTTTAAAACGAGGTAGAATAAAATTGTCCAAATGTTAATAATTGTTGTAGCTAGGTGATGGATGCCAGAATTTCCTTATACTCTTCTCTCTTTTCTGTTTGACATTTTCCTATAAAGAAGTTGAATTAAGAAGCAAAAGGAAATACAAATTGGAGCACTTTTGAAGCACATCTCAAAAGAAGTTTTTCTTTTACATTTTTTAAGAATCTGAGGTATTAACAATATCCCTTGTAAAGTACAGCCTCACCCATGCTTGCTGATGTCAGGAG... | TGGAAAACAATAGTTCAGCGGTAACTGCTCAGAGAATCATTCCACTGAAAGCTTTAAAACGAGGTAGAATAAAATTGTCCAAATGTTAATAATTGTTGTAGCTAGGTGATGGATGCCAGAATTTCCTTATACTCTTCTCTCTTTTCTGTTTGACATTTTCCTATAAAGAAGTTGAATTAAGAAGCAAAAGGAAATACAAATTGGAGCACTTTTGAAGCACATCTCAAAAGAAGTTTTTCTTTTACATTTTTTAAGAATCTGAGGTATTAACAATATCCCTTGTAAAGTACAGCCTCACCCATGCTTGCTGATGTCAGGAG... | pathogenic | 166,096 |
Variant at chromosome 10, position 94324615, gene PLCE1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCGCGTCAGCCTGGGCAACAAGAGTGAAACTTCGTCTAAAAAAAAAAAAAGTACAAAAATTAGCCAGGCATGGTAGCATGCACCTGTAGTCCCTGCTACTCAGGAGGCTGAGATAGGAGGATCGCTTGAGCCTGGGAGG... | CTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCGCGTCAGCCTGGGCAACAAGAGTGAAACTTCGTCTAAAAAAAAAAAAAGTACAAAAATTAGCCAGGCATGGTAGCATGCACCTGTAGTCCCTGCTACTCAGGAGGCTGAGATAGGAGGATCGCTTGAGCCTGGGAGG... | benign | 166,108 |
Does the genetic variant at chromosome 10, position 94949281, impacting gene CYP2C9 (cytochrome P450 family 2 subfamily C member 9), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATAATATGTTAGGCATATTATTCATTTATATTTGTTTTCCTTCTCATAAAACACATTCTGCTCTTACATTTATTTTCTTAAATACATGAATTCACCAACAGTCTCTTTGGTTCCTCTCTACTGGTTCAACACATGACTCTTTCAGCTATTCATTATATATAAAAAGCTTTGAAATCTCCAACTATTCTTGCCCTTTCCATCTCAGTGCCTTGCTGTCTACTGACTTTGCAGACTGATGTGATTCCCTCTGAAACATGAATTATTAGGTTTTTAGAAAATGCCTTTTTGTTCTTTCCAAAGTAAAAGACAAATAGGCTGGG... | ATAATATGTTAGGCATATTATTCATTTATATTTGTTTTCCTTCTCATAAAACACATTCTGCTCTTACATTTATTTTCTTAAATACATGAATTCACCAACAGTCTCTTTGGTTCCTCTCTACTGGTTCAACACATGACTCTTTCAGCTATTCATTATATATAAAAAGCTTTGAAATCTCCAACTATTCTTGCCCTTTCCATCTCAGTGCCTTGCTGTCTACTGACTTTGCAGACTGATGTGATTCCCTCTGAAACATGAATTATTAGGTTTTTAGAAAATGCCTTTTTGTTCTTTCCAAAGTAAAAGACAAATAGGCTGGG... | benign | 166,139 |
Does the chromosome 10 mutation at position 95614178 within gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GTGCCACATATACATTGCTACTCCCTGTACCCTAGCGAAGTCCCAGGTTTGCTTTAGAGGTAAGCAGTACTTGGTCAGGTGCTTTCAGCACCTGAAACTGTGGCTACTCATTTGATTTCCAACTGCGTCAGTCTGGCCCCACCTCTAGGTTCAGCTCAGCCCCAGGCTCTGGCTCTAATCCTGCTGCTGGTTAGAGGAATTTAAGGATTCTGAGGCTGGTCACCGAGGATCCCAATCACAAGCTGGATCCCACTTAAACCTTGTTTTCTGAGACATCCCCAGGACAGGGTTCATGCCTTGATTCTTTGGGATCAAGCTTT... | GTGCCACATATACATTGCTACTCCCTGTACCCTAGCGAAGTCCCAGGTTTGCTTTAGAGGTAAGCAGTACTTGGTCAGGTGCTTTCAGCACCTGAAACTGTGGCTACTCATTTGATTTCCAACTGCGTCAGTCTGGCCCCACCTCTAGGTTCAGCTCAGCCCCAGGCTCTGGCTCTAATCCTGCTGCTGGTTAGAGGAATTTAAGGATTCTGAGGCTGGTCACCGAGGATCCCAATCACAAGCTGGATCCCACTTAAACCTTGTTTTCTGAGACATCCCCAGGACAGGGTTCATGCCTTGATTCTTTGGGATCAAGCTTT... | benign | 166,178 |
Mutation at chromosome 10, position 95656633, within ALDH18A1 (aldehyde dehydrogenase 18 family member A1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCCATAGTGAAGAAAAATTAGGAATGGTGTCATTGCTTTACAATTTATACTGCACAAAGGCACTGAAATGGGACAGAGAAGAGACTGGCAGGATGCAGCTGTTCTAAAACATATGGCATCTAGTAGGCAACAGAAAGTATTAATTGATCTTTGTTATTTCAATTTTTTCATAACACTGAAGTATGATTTTAGCACGTGATCTAAGTTTGCTGCTTATATAAATTCCTTCAATAATGGCTGCTAAACAATTATTTACATGTGAATTCTCCAAAATAACTACAGAAGAGCCAAAGGGTAAAACAATCAAATTCCAGTTCCAC... | CCCATAGTGAAGAAAAATTAGGAATGGTGTCATTGCTTTACAATTTATACTGCACAAAGGCACTGAAATGGGACAGAGAAGAGACTGGCAGGATGCAGCTGTTCTAAAACATATGGCATCTAGTAGGCAACAGAAAGTATTAATTGATCTTTGTTATTTCAATTTTTTCATAACACTGAAGTATGATTTTAGCACGTGATCTAAGTTTGCTGCTTATATAAATTCCTTCAATAATGGCTGCTAAACAATTATTTACATGTGAATTCTCCAAAATAACTACAGAAGAGCCAAAGGGTAAAACAATCAAATTCCAGTTCCAC... | benign | 166,223 |
Is chromosome 10, position 95685614, gene TCTN3 (tectonic family member 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Joubert_syndrome_18', 'Orofacial-digital_syndrome_IV'] | CTATATAGCCAGGATTCCCACTTCTAGGACTGGTGAGAGAAGCAGCTGTGCTCTGTTGAAAAGCCTGCAGAAAGAGGGAAGAGAAGTCAATTATGGAGATAAGCATACTTTCCCACCTCCCACTGCTTGGCTTCACCGTACCCTTCCTTAAGGCAAGGAAATGCAATAAGTGAGCTACACTGAACAATCTGGCTTCTTTCCACAGTGTAGCATTTTGCTTCTTTCACTTTTTTAAATTTACTAAAATAAATCCTTCATGATCTGAATATTGAAATTCATAATACGCTACTTTTACCAAGGATTACAACCAAGAATCTACT... | CTATATAGCCAGGATTCCCACTTCTAGGACTGGTGAGAGAAGCAGCTGTGCTCTGTTGAAAAGCCTGCAGAAAGAGGGAAGAGAAGTCAATTATGGAGATAAGCATACTTTCCCACCTCCCACTGCTTGGCTTCACCGTACCCTTCCTTAAGGCAAGGAAATGCAATAAGTGAGCTACACTGAACAATCTGGCTTCTTTCCACAGTGTAGCATTTTGCTTCTTTCACTTTTTTAAATTTACTAAAATAAATCCTTCATGATCTGAATATTGAAATTCATAATACGCTACTTTTACCAAGGATTACAACCAAGAATCTACT... | pathogenic | 166,244 |
A genetic variant at chromosome 10, position 95687119, affecting gene TCTN3 (tectonic family member 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Joubert_syndrome_18', 'Orofacial-digital_syndrome_IV'] | AGATAATTCTTACTTTTTAAGGTTAGATTGTTTAGAGAACAGAGGAATACAAGTTGATTAATCTACTTCAGAGTTTCAGATGATACTGTGTCAAGAGAATAAAATGTGGTCAGTCAGTAAGAATCAGTAACAGACTGCAAGTGGGCAACAGAAGAGGTGTCAGAAATAATTTTAATGTCCTGGACCTGAAATACTGGAGGATGGTGGTGATGGAAATAACTGAAACGTGGTAGGGAGGATAATGGGCTCAATTATTGACAAGTTTAATTTCAAACTTGTTGGGAATTGTTGAAATTCACAATATGCTACTTTTACCAAGG... | AGATAATTCTTACTTTTTAAGGTTAGATTGTTTAGAGAACAGAGGAATACAAGTTGATTAATCTACTTCAGAGTTTCAGATGATACTGTGTCAAGAGAATAAAATGTGGTCAGTCAGTAAGAATCAGTAACAGACTGCAAGTGGGCAACAGAAGAGGTGTCAGAAATAATTTTAATGTCCTGGACCTGAAATACTGGAGGATGGTGGTGATGGAAATAACTGAAACGTGGTAGGGAGGATAATGGGCTCAATTATTGACAAGTTTAATTTCAAACTTGTTGGGAATTGTTGAAATTCACAATATGCTACTTTTACCAAGG... | pathogenic | 166,248 |
A genetic variant on chromosome 10, position 95687272, affects the gene TCTN3 (tectonic family member 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Joubert_syndrome_18', 'Orofacial-digital_syndrome_IV'] | GAGGTGTCAGAAATAATTTTAATGTCCTGGACCTGAAATACTGGAGGATGGTGGTGATGGAAATAACTGAAACGTGGTAGGGAGGATAATGGGCTCAATTATTGACAAGTTTAATTTCAAACTTGTTGGGAATTGTTGAAATTCACAATATGCTACTTTTACCAAGGATTGCAACCAAGAATCTACCAATACAACAAGTTTGCATTCCCAACATTGTTAGAGAATGCAAACAAAATTCAGTTGGGTCAGTCTGATACTTAATGGAAGATGAGGCACCTCTGGCAGTGTTGATTAACACACATCAGTCCAGAATCTGAGGT... | GAGGTGTCAGAAATAATTTTAATGTCCTGGACCTGAAATACTGGAGGATGGTGGTGATGGAAATAACTGAAACGTGGTAGGGAGGATAATGGGCTCAATTATTGACAAGTTTAATTTCAAACTTGTTGGGAATTGTTGAAATTCACAATATGCTACTTTTACCAAGGATTGCAACCAAGAATCTACCAATACAACAAGTTTGCATTCCCAACATTGTTAGAGAATGCAAACAAAATTCAGTTGGGTCAGTCTGATACTTAATGGAAGATGAGGCACCTCTGGCAGTGTTGATTAACACACATCAGTCCAGAATCTGAGGT... | pathogenic | 166,249 |
The chromosome 10, position 95687329 genetic variant in gene TCTN3 (tectonic family member 3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Joubert_syndrome_18', 'Orofacial-digital_syndrome_IV'] | TGGAAATAACTGAAACGTGGTAGGGAGGATAATGGGCTCAATTATTGACAAGTTTAATTTCAAACTTGTTGGGAATTGTTGAAATTCACAATATGCTACTTTTACCAAGGATTGCAACCAAGAATCTACCAATACAACAAGTTTGCATTCCCAACATTGTTAGAGAATGCAAACAAAATTCAGTTGGGTCAGTCTGATACTTAATGGAAGATGAGGCACCTCTGGCAGTGTTGATTAACACACATCAGTCCAGAATCTGAGGTCAGTATCCCTACCTGAGAAACTACATTCTGACAAGTGTTTCCAGCCAACAGAGGAGC... | TGGAAATAACTGAAACGTGGTAGGGAGGATAATGGGCTCAATTATTGACAAGTTTAATTTCAAACTTGTTGGGAATTGTTGAAATTCACAATATGCTACTTTTACCAAGGATTGCAACCAAGAATCTACCAATACAACAAGTTTGCATTCCCAACATTGTTAGAGAATGCAAACAAAATTCAGTTGGGTCAGTCTGATACTTAATGGAAGATGAGGCACCTCTGGCAGTGTTGATTAACACACATCAGTCCAGAATCTGAGGTCAGTATCCCTACCTGAGAAACTACATTCTGACAAGTGTTTCCAGCCAACAGAGGAGC... | pathogenic | 166,250 |
Chromosome 10, position 95687596, gene TCTN3 (tectonic family member 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Joubert_syndrome_18', 'Joubert_syndrome_and_related_disorders', 'Orofacial-digital_syndrome_IV'] | ATCCCTACCTGAGAAACTACATTCTGACAAGTGTTTCCAGCCAACAGAGGAGCATTAGCCTGTGAGGTAAGTATTACAGGAACCTGGAACTAGCAACGAAAAGAAGCAAATTAACTAAAACTGAAGGCGGTATTTTGTCTTGTATCTATTAATAGATATCATGCTAAGATGAGTATTTTTCCTTCCCCTTGACCACCCTCTCTCTCTCTTCTTCCAGTGCCAGCCAACAACTTAAATTCAAGTCTTTCTAAACGAGCACTTCTCAAAACTTATTTCTCAGAACACTAGTTCTATTAAATATAAAACAAGGGTTCCATAGT... | ATCCCTACCTGAGAAACTACATTCTGACAAGTGTTTCCAGCCAACAGAGGAGCATTAGCCTGTGAGGTAAGTATTACAGGAACCTGGAACTAGCAACGAAAAGAAGCAAATTAACTAAAACTGAAGGCGGTATTTTGTCTTGTATCTATTAATAGATATCATGCTAAGATGAGTATTTTTCCTTCCCCTTGACCACCCTCTCTCTCTCTTCTTCCAGTGCCAGCCAACAACTTAAATTCAAGTCTTTCTAAACGAGCACTTCTCAAAACTTATTTCTCAGAACACTAGTTCTATTAAATATAAAACAAGGGTTCCATAGT... | pathogenic | 166,254 |
Evaluate the clinical significance of the mutation at chromosome 10, position 95693391 in gene TCTN3 (tectonic family member 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Joubert_syndrome_18', 'Joubert_syndrome_and_related_disorders', 'Orofacial-digital_syndrome_IV', 'TCTN3-related_disorder'] | AGGGTTTCACCATGTTGGTTAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAGTGCTAAGATTACAGGAGTGAGCCACCGCGTCAGGCCACAACCTTATCTGAAAATGAAGTATTCATCTTGTTCCCTTTACCCTATTACCATCTAAATAACCACAAGGCTTCTGATAACTGCTTTGAAATTCAAGTCCCCCAAAACCAAAAACTGGTTGTTTTCTGAGACAAATATAGTTTTGCAATTCTTATTAACAGTCAGATGAAATCAGGATGAGGTGACTTCCAGGATGCAAGAGACATTTAA... | AGGGTTTCACCATGTTGGTTAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAGTGCTAAGATTACAGGAGTGAGCCACCGCGTCAGGCCACAACCTTATCTGAAAATGAAGTATTCATCTTGTTCCCTTTACCCTATTACCATCTAAATAACCACAAGGCTTCTGATAACTGCTTTGAAATTCAAGTCCCCCAAAACCAAAAACTGGTTGTTTTCTGAGACAAATATAGTTTTGCAATTCTTATTAACAGTCAGATGAAATCAGGATGAGGTGACTTCCAGGATGCAAGAGACATTTAA... | pathogenic | 166,259 |
Classify the chromosome 10 variant at position 95693455 affecting gene TCTN3 (tectonic family member 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Joubert_syndrome_18', 'Orofacial-digital_syndrome_IV'] | GCCTCCCAAGTGCTAAGATTACAGGAGTGAGCCACCGCGTCAGGCCACAACCTTATCTGAAAATGAAGTATTCATCTTGTTCCCTTTACCCTATTACCATCTAAATAACCACAAGGCTTCTGATAACTGCTTTGAAATTCAAGTCCCCCAAAACCAAAAACTGGTTGTTTTCTGAGACAAATATAGTTTTGCAATTCTTATTAACAGTCAGATGAAATCAGGATGAGGTGACTTCCAGGATGCAAGAGACATTTAAATCCATTTTGTGCAGGAACATTATTTTGCTTCATAGACATTTTAAAAAGATAGATTAGCTTCAT... | GCCTCCCAAGTGCTAAGATTACAGGAGTGAGCCACCGCGTCAGGCCACAACCTTATCTGAAAATGAAGTATTCATCTTGTTCCCTTTACCCTATTACCATCTAAATAACCACAAGGCTTCTGATAACTGCTTTGAAATTCAAGTCCCCCAAAACCAAAAACTGGTTGTTTTCTGAGACAAATATAGTTTTGCAATTCTTATTAACAGTCAGATGAAATCAGGATGAGGTGACTTCCAGGATGCAAGAGACATTTAAATCCATTTTGTGCAGGAACATTATTTTGCTTCATAGACATTTTAAAAAGATAGATTAGCTTCAT... | pathogenic | 166,262 |
Determine if the mutation at chromosome 10, position 95693636 in gene TCTN3 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Joubert_syndrome_18', 'Joubert_syndrome_and_related_disorders', 'Orofacial-digital_syndrome_IV'] | TATAGTTTTGCAATTCTTATTAACAGTCAGATGAAATCAGGATGAGGTGACTTCCAGGATGCAAGAGACATTTAAATCCATTTTGTGCAGGAACATTATTTTGCTTCATAGACATTTTAAAAAGATAGATTAGCTTCATATCTTTAGAAATGTTATAGCCATCACCAGCAAATTTCTAAGTCCACTAACCATCCCCAATAATAATAACCTCTAATCTTTATTGTACTCTACAGTTGTAGAGCGCTTTCATATACAAAGCCAATGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTG... | TATAGTTTTGCAATTCTTATTAACAGTCAGATGAAATCAGGATGAGGTGACTTCCAGGATGCAAGAGACATTTAAATCCATTTTGTGCAGGAACATTATTTTGCTTCATAGACATTTTAAAAAGATAGATTAGCTTCATATCTTTAGAAATGTTATAGCCATCACCAGCAAATTTCTAAGTCCACTAACCATCCCCAATAATAATAACCTCTAATCTTTATTGTACTCTACAGTTGTAGAGCGCTTTCATATACAAAGCCAATGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTG... | pathogenic | 166,263 |
Clinically, how would you classify the variant at chromosome 10, position 95693717, gene TCTN3: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ciliopathy', 'Joubert_syndrome_18', 'Orofacial-digital_syndrome_IV'] | TTTGTGCAGGAACATTATTTTGCTTCATAGACATTTTAAAAAGATAGATTAGCTTCATATCTTTAGAAATGTTATAGCCATCACCAGCAAATTTCTAAGTCCACTAACCATCCCCAATAATAATAACCTCTAATCTTTATTGTACTCTACAGTTGTAGAGCGCTTTCATATACAAAGCCAATGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAA... | TTTGTGCAGGAACATTATTTTGCTTCATAGACATTTTAAAAAGATAGATTAGCTTCATATCTTTAGAAATGTTATAGCCATCACCAGCAAATTTCTAAGTCCACTAACCATCCCCAATAATAATAACCTCTAATCTTTATTGTACTCTACAGTTGTAGAGCGCTTTCATATACAAAGCCAATGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAA... | pathogenic | 166,267 |
Chromosome 10, position 96200007, gene BLNK: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTGTAAGACAGTAATTCAAATTTTATTAAATTTTTTAATAAAAATATTTAGAATCATAAAATAAAAAATTACGAACAAAAGATGGACAAAAAGCAGAATGAAATGCAACAAGAGTTGATCAAACTCAGGAAACAAACTGAAGAAAAAGACAAGCCTATCTCAACAAAGAACAAATTATAAGATGTCCAAGGGACGAGAGCTTCAAATGAAGATTTAAGAAATGACACTTGAAGGAAGGTGTGGAAACAACCAGGAGAGAAAATGGGATTTAATAAAATAAGTACCATAGAATCAAAGACAGTGATGGGAGAAAAAATGAC... | CTGTAAGACAGTAATTCAAATTTTATTAAATTTTTTAATAAAAATATTTAGAATCATAAAATAAAAAATTACGAACAAAAGATGGACAAAAAGCAGAATGAAATGCAACAAGAGTTGATCAAACTCAGGAAACAAACTGAAGAAAAAGACAAGCCTATCTCAACAAAGAACAAATTATAAGATGTCCAAGGGACGAGAGCTTCAAATGAAGATTTAAGAAATGACACTTGAAGGAAGGTGTGGAAACAACCAGGAGAGAAAATGGGATTTAATAAAATAAGTACCATAGAATCAAAGACAGTGATGGGAGAAAAAATGAC... | benign | 166,306 |
The genetic variant at chromosome 10, position 96215411, affecting gene BLNK (B cell linker): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATTAGACTGAGACACAAAGTAATTAGGGAATAAGTACGGGCTAAGTGTAAGGGGGAAGAGACTTCCTGCAAAGGAGAGCTCTCTGAGGGCTACAGAAACCAGAGGAGTCTTCCTGGAGGTGGAGGCCTCAAGCTGGGCCTTGAAGGATGAGTAGGATTAGGTGTCCTAAAAGTGAGAACACAAAGACCAAGAAGCAAGACCCGTGACATACAGGCTGATTGGAGTACTGGGTGTGTTTTAGGAAGAGGAGGTGCTTGTAAGGCAGTGTGTTTTAGGAAGAGGAGGTCCTTGTAAGGCAAGTAGAGCTTTGTAAGAGGTAA... | ATTAGACTGAGACACAAAGTAATTAGGGAATAAGTACGGGCTAAGTGTAAGGGGGAAGAGACTTCCTGCAAAGGAGAGCTCTCTGAGGGCTACAGAAACCAGAGGAGTCTTCCTGGAGGTGGAGGCCTCAAGCTGGGCCTTGAAGGATGAGTAGGATTAGGTGTCCTAAAAGTGAGAACACAAAGACCAAGAAGCAAGACCCGTGACATACAGGCTGATTGGAGTACTGGGTGTGTTTTAGGAAGAGGAGGTGCTTGTAAGGCAGTGTGTTTTAGGAAGAGGAGGTCCTTGTAAGGCAAGTAGAGCTTTGTAAGAGGTAA... | benign | 166,318 |
Regarding the variant found on chromosome 10 at position 97601842 in gene HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATGAAGGACAGCGGTGGTGATGTGAGTGGCAGCAGCTCCGGGGCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTT... | ATGAAGGACAGCGGTGGTGATGTGAGTGGCAGCAGCTCCGGGGCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTT... | benign | 166,416 |
Is the genetic change at chromosome 10, position 98418182, within gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | GGGTTCCGAGGACCCCTCCACACACCATGGACAGTTACCCCGCATGTGAGCATCTCTGCTAAGATCTGATTCAGGATGTTCACTCCTGTGTTATTTATTATATAGAAAGATCAAGGGGACTGGTTAAACTAGACATATCACATCCAGCCGCTGCTAAAAACTAAAGGGAAATAGTAGGTGACAAAAGCAGGGGTCCTGAACAGTGGTGGGCTCAGGGGATTGGAGTTTTTTCCTTTATGTTTTTCTGTATTTTCCACAATCCACGCTTTTCATTGCCATTCCATCAGATGATGTTAAGGAGGAACACAGATCCAGTCACC... | GGGTTCCGAGGACCCCTCCACACACCATGGACAGTTACCCCGCATGTGAGCATCTCTGCTAAGATCTGATTCAGGATGTTCACTCCTGTGTTATTTATTATATAGAAAGATCAAGGGGACTGGTTAAACTAGACATATCACATCCAGCCGCTGCTAAAAACTAAAGGGAAATAGTAGGTGACAAAAGCAGGGGTCCTGAACAGTGGTGGGCTCAGGGGATTGGAGTTTTTTCCTTTATGTTTTTCTGTATTTTCCACAATCCACGCTTTTCATTGCCATTCCATCAGATGATGTTAAGGAGGAACACAGATCCAGTCACC... | pathogenic | 166,512 |
Classify the chromosome 10 variant at position 98418189 affecting gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['HPS1-related_disorder', 'Hermansky-Pudlak_syndrome_1'] | GAGGACCCCTCCACACACCATGGACAGTTACCCCGCATGTGAGCATCTCTGCTAAGATCTGATTCAGGATGTTCACTCCTGTGTTATTTATTATATAGAAAGATCAAGGGGACTGGTTAAACTAGACATATCACATCCAGCCGCTGCTAAAAACTAAAGGGAAATAGTAGGTGACAAAAGCAGGGGTCCTGAACAGTGGTGGGCTCAGGGGATTGGAGTTTTTTCCTTTATGTTTTTCTGTATTTTCCACAATCCACGCTTTTCATTGCCATTCCATCAGATGATGTTAAGGAGGAACACAGATCCAGTCACCTGAGGGG... | GAGGACCCCTCCACACACCATGGACAGTTACCCCGCATGTGAGCATCTCTGCTAAGATCTGATTCAGGATGTTCACTCCTGTGTTATTTATTATATAGAAAGATCAAGGGGACTGGTTAAACTAGACATATCACATCCAGCCGCTGCTAAAAACTAAAGGGAAATAGTAGGTGACAAAAGCAGGGGTCCTGAACAGTGGTGGGCTCAGGGGATTGGAGTTTTTTCCTTTATGTTTTTCTGTATTTTCCACAATCCACGCTTTTCATTGCCATTCCATCAGATGATGTTAAGGAGGAACACAGATCCAGTCACCTGAGGGG... | pathogenic | 166,513 |
The chromosome 10, position 98420124 genetic variant in gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | GGTAGGGCACTGCTGAAGCAGAAGCTGCTCCCGGCAGAGGCGAGCACTTATCACCCAAATGGGGGCATCTGTCCCCAGTGGCTCCCAACGCAGCGTCACCTGTAGTAGTCTCCTCCCAGCATGCCGATAGGCACTGAGTCGTCGGAGAGGACGGGCACCTCGATCATCTGGAGTTTGTACCCCTGAGGAGGGAGGACAGGGAGGCAGTGGGTGTGGGGGTAGTGCAAGGGCCTGAGTCAGACGCACCGGGCTTGCGGCCTGGCTTGGCTCTGTCATGTGCGCTGGGTGCTTGGGAAAATGCCTGGACCTTGTTTTTTCAT... | GGTAGGGCACTGCTGAAGCAGAAGCTGCTCCCGGCAGAGGCGAGCACTTATCACCCAAATGGGGGCATCTGTCCCCAGTGGCTCCCAACGCAGCGTCACCTGTAGTAGTCTCCTCCCAGCATGCCGATAGGCACTGAGTCGTCGGAGAGGACGGGCACCTCGATCATCTGGAGTTTGTACCCCTGAGGAGGGAGGACAGGGAGGCAGTGGGTGTGGGGGTAGTGCAAGGGCCTGAGTCAGACGCACCGGGCTTGCGGCCTGGCTTGGCTCTGTCATGTGCGCTGGGTGCTTGGGAAAATGCCTGGACCTTGTTTTTTCAT... | pathogenic | 166,521 |
Gene mutation in HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) at chromosome 10, position 98423797—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['HPS1-related_disorder', 'Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1', 'Inborn_genetic_diseases'] | ATGTACTCTTCATAACTCTGTGATGTAAATAGCACTATTATTTCCTTCTACAGATGAGGAAACTGACCCTTGGGCTAAGTACTGCCCAAAGCCACATAACTGGTGGGAGACGGGGCTGGGCTTCCAACACATGCCTCCACCACCCATCTTCCCATCTTGTTTTAAACATTAGAATACACTTTACTTGCCTCCCCCACCAAAACAAAGAAAGAAAAGAACACACACACACAGACACACACACACACACACACACACACACACACACACGTATAGTTTTTTTGGAGAGTGGCAGGGGTCCTCCCCCTATCAAAAATACAACT... | ATGTACTCTTCATAACTCTGTGATGTAAATAGCACTATTATTTCCTTCTACAGATGAGGAAACTGACCCTTGGGCTAAGTACTGCCCAAAGCCACATAACTGGTGGGAGACGGGGCTGGGCTTCCAACACATGCCTCCACCACCCATCTTCCCATCTTGTTTTAAACATTAGAATACACTTTACTTGCCTCCCCCACCAAAACAAAGAAAGAAAAGAACACACACACACAGACACACACACACACACACACACACACACACACACACGTATAGTTTTTTTGGAGAGTGGCAGGGGTCCTCCCCCTATCAAAAATACAACT... | pathogenic | 166,545 |
Does the chromosome 10 mutation at position 98423811 within gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | ACTCTGTGATGTAAATAGCACTATTATTTCCTTCTACAGATGAGGAAACTGACCCTTGGGCTAAGTACTGCCCAAAGCCACATAACTGGTGGGAGACGGGGCTGGGCTTCCAACACATGCCTCCACCACCCATCTTCCCATCTTGTTTTAAACATTAGAATACACTTTACTTGCCTCCCCCACCAAAACAAAGAAAGAAAAGAACACACACACACAGACACACACACACACACACACACACACACACACACACGTATAGTTTTTTTGGAGAGTGGCAGGGGTCCTCCCCCTATCAAAAATACAACTTTGTCATGAAAAAC... | ACTCTGTGATGTAAATAGCACTATTATTTCCTTCTACAGATGAGGAAACTGACCCTTGGGCTAAGTACTGCCCAAAGCCACATAACTGGTGGGAGACGGGGCTGGGCTTCCAACACATGCCTCCACCACCCATCTTCCCATCTTGTTTTAAACATTAGAATACACTTTACTTGCCTCCCCCACCAAAACAAAGAAAGAAAAGAACACACACACACAGACACACACACACACACACACACACACACACACACACGTATAGTTTTTTTGGAGAGTGGCAGGGGTCCTCCCCCTATCAAAAATACAACTTTGTCATGAAAAAC... | pathogenic | 166,546 |
Mutation at chromosome 10, position 98423825, within HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | ATAGCACTATTATTTCCTTCTACAGATGAGGAAACTGACCCTTGGGCTAAGTACTGCCCAAAGCCACATAACTGGTGGGAGACGGGGCTGGGCTTCCAACACATGCCTCCACCACCCATCTTCCCATCTTGTTTTAAACATTAGAATACACTTTACTTGCCTCCCCCACCAAAACAAAGAAAGAAAAGAACACACACACACAGACACACACACACACACACACACACACACACACACACGTATAGTTTTTTTGGAGAGTGGCAGGGGTCCTCCCCCTATCAAAAATACAACTTTGTCATGAAAAACAGTCAGTTAAATAA... | ATAGCACTATTATTTCCTTCTACAGATGAGGAAACTGACCCTTGGGCTAAGTACTGCCCAAAGCCACATAACTGGTGGGAGACGGGGCTGGGCTTCCAACACATGCCTCCACCACCCATCTTCCCATCTTGTTTTAAACATTAGAATACACTTTACTTGCCTCCCCCACCAAAACAAAGAAAGAAAAGAACACACACACACAGACACACACACACACACACACACACACACACACACACGTATAGTTTTTTTGGAGAGTGGCAGGGGTCCTCCCCCTATCAAAAATACAACTTTGTCATGAAAAACAGTCAGTTAAATAA... | pathogenic | 166,548 |
Clinically, how would you classify the variant at chromosome 10, position 98424305, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGGCCTGCTGCCCAGCGCACTCTGCTAGCCCCAGGCATGTGGATCACACCAGGAAGGGCTACCCAATATTGGCTGAGGCCCACCCATCCCCGCCCTGGGTCCAAATGGTTACCTTAGTTTTGACAAAGGCAGCCAGCGGCCCCTTGCCCAACTCCGACGAGGTCTTTTGACTGCAGTTGAGGGAAGGCGCCACCATCTGCCCAGTGGTGCGGTCCACATAGATGAAGTGCACCAAGCCTGGGAAGTCTTCTAGGTAGGTGAAGGTCTGAGTTAAGGTGCTTACAAGCCAGGAGCTAGGGACGGCCTGCCTCTGTCCTGGG... | GGGCCTGCTGCCCAGCGCACTCTGCTAGCCCCAGGCATGTGGATCACACCAGGAAGGGCTACCCAATATTGGCTGAGGCCCACCCATCCCCGCCCTGGGTCCAAATGGTTACCTTAGTTTTGACAAAGGCAGCCAGCGGCCCCTTGCCCAACTCCGACGAGGTCTTTTGACTGCAGTTGAGGGAAGGCGCCACCATCTGCCCAGTGGTGCGGTCCACATAGATGAAGTGCACCAAGCCTGGGAAGTCTTCTAGGTAGGTGAAGGTCTGAGTTAAGGTGCTTACAAGCCAGGAGCTAGGGACGGCCTGCCTCTGTCCTGGG... | benign | 166,554 |
Evaluate if the mutation on chromosome 10 at position 98424334 in HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | CCCAGGCATGTGGATCACACCAGGAAGGGCTACCCAATATTGGCTGAGGCCCACCCATCCCCGCCCTGGGTCCAAATGGTTACCTTAGTTTTGACAAAGGCAGCCAGCGGCCCCTTGCCCAACTCCGACGAGGTCTTTTGACTGCAGTTGAGGGAAGGCGCCACCATCTGCCCAGTGGTGCGGTCCACATAGATGAAGTGCACCAAGCCTGGGAAGTCTTCTAGGTAGGTGAAGGTCTGAGTTAAGGTGCTTACAAGCCAGGAGCTAGGGACGGCCTGCCTCTGTCCTGGGCTTCTAGCTGTGCCCAGTCATGGTGGCAG... | CCCAGGCATGTGGATCACACCAGGAAGGGCTACCCAATATTGGCTGAGGCCCACCCATCCCCGCCCTGGGTCCAAATGGTTACCTTAGTTTTGACAAAGGCAGCCAGCGGCCCCTTGCCCAACTCCGACGAGGTCTTTTGACTGCAGTTGAGGGAAGGCGCCACCATCTGCCCAGTGGTGCGGTCCACATAGATGAAGTGCACCAAGCCTGGGAAGTCTTCTAGGTAGGTGAAGGTCTGAGTTAAGGTGCTTACAAGCCAGGAGCTAGGGACGGCCTGCCTCTGTCCTGGGCTTCTAGCTGTGCCCAGTCATGGTGGCAG... | pathogenic | 166,557 |
Gene mutation in HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) at chromosome 10, position 98425677—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | CTTCACCAGCAAGAAGTCCTTCCAGTCCGTCAGCTTCTCCCTGCCGAGGGAAGCTCGGGCTGCGTGAAGGAAGTACGGGCCCCAGACCCTGCCCTGGCCACCCAGGGGGCCGCACTGCACTTACCGCATGAGCCTCTGCACTTGGTCCTGCAGGTGCTGGGGCAGGTGTGGGCCTCCCCTGCTGGGGGCTGTGGTCAGAAAGTTCAGCCGGTAGATGGCGCAGAGCTGCCGCTTCAGCTTCCCACATGCCTGGAGCAGCCTGAGCACGAGAGAGGAGGGCATTACAGCAGAAGGGACCTAGGGGAGCCCCTCGCCCTGTG... | CTTCACCAGCAAGAAGTCCTTCCAGTCCGTCAGCTTCTCCCTGCCGAGGGAAGCTCGGGCTGCGTGAAGGAAGTACGGGCCCCAGACCCTGCCCTGGCCACCCAGGGGGCCGCACTGCACTTACCGCATGAGCCTCTGCACTTGGTCCTGCAGGTGCTGGGGCAGGTGTGGGCCTCCCCTGCTGGGGGCTGTGGTCAGAAAGTTCAGCCGGTAGATGGCGCAGAGCTGCCGCTTCAGCTTCCCACATGCCTGGAGCAGCCTGAGCACGAGAGAGGAGGGCATTACAGCAGAAGGGACCTAGGGGAGCCCCTCGCCCTGTG... | pathogenic | 166,570 |
Gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) variant at chromosome position 98425686 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['HPS1-related_disorder', 'Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | CAAGAAGTCCTTCCAGTCCGTCAGCTTCTCCCTGCCGAGGGAAGCTCGGGCTGCGTGAAGGAAGTACGGGCCCCAGACCCTGCCCTGGCCACCCAGGGGGCCGCACTGCACTTACCGCATGAGCCTCTGCACTTGGTCCTGCAGGTGCTGGGGCAGGTGTGGGCCTCCCCTGCTGGGGGCTGTGGTCAGAAAGTTCAGCCGGTAGATGGCGCAGAGCTGCCGCTTCAGCTTCCCACATGCCTGGAGCAGCCTGAGCACGAGAGAGGAGGGCATTACAGCAGAAGGGACCTAGGGGAGCCCCTCGCCCTGTGTGGACCACC... | CAAGAAGTCCTTCCAGTCCGTCAGCTTCTCCCTGCCGAGGGAAGCTCGGGCTGCGTGAAGGAAGTACGGGCCCCAGACCCTGCCCTGGCCACCCAGGGGGCCGCACTGCACTTACCGCATGAGCCTCTGCACTTGGTCCTGCAGGTGCTGGGGCAGGTGTGGGCCTCCCCTGCTGGGGGCTGTGGTCAGAAAGTTCAGCCGGTAGATGGCGCAGAGCTGCCGCTTCAGCTTCCCACATGCCTGGAGCAGCCTGAGCACGAGAGAGGAGGGCATTACAGCAGAAGGGACCTAGGGGAGCCCCTCGCCCTGTGTGGACCACC... | pathogenic | 166,571 |
A genetic variant on chromosome 10, position 98427229, affects the gene HPS1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['HPS1-related_disorder', 'Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | CCCGTGACGGGCGGATCCCGACTGCACTTGCTCACTGCATCCGGGCTCTGGCTCCACTGCTCATGAGCTGCATAATCTTGGCCAAGTTAAAACTTGTCTAAGCCTTAGTTTCCACACCTAAAAAAGGGGAATTATAATTCGTATTCTGCCAAACACACATAAAAAGATTCTGAAAACCAAAAAGCAGCTAAGTTTTCAATATCATTTCATAATAGGGAAAACAAGGATCGTAGGCCCGGGGGAGGTGGAGCCCGGACAGGAACCCAGGCCCATTGGCCCCTCAGCTGCTGTGGACCGGATGTACCCTGCTGCCAGCCCTG... | CCCGTGACGGGCGGATCCCGACTGCACTTGCTCACTGCATCCGGGCTCTGGCTCCACTGCTCATGAGCTGCATAATCTTGGCCAAGTTAAAACTTGTCTAAGCCTTAGTTTCCACACCTAAAAAAGGGGAATTATAATTCGTATTCTGCCAAACACACATAAAAAGATTCTGAAAACCAAAAAGCAGCTAAGTTTTCAATATCATTTCATAATAGGGAAAACAAGGATCGTAGGCCCGGGGGAGGTGGAGCCCGGACAGGAACCCAGGCCCATTGGCCCCTCAGCTGCTGTGGACCGGATGTACCCTGCTGCCAGCCCTG... | pathogenic | 166,581 |
Mutation found at chromosome 10 position 98427229, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['HPS1-related_disorder', 'Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | CCCGTGACGGGCGGATCCCGACTGCACTTGCTCACTGCATCCGGGCTCTGGCTCCACTGCTCATGAGCTGCATAATCTTGGCCAAGTTAAAACTTGTCTAAGCCTTAGTTTCCACACCTAAAAAAGGGGAATTATAATTCGTATTCTGCCAAACACACATAAAAAGATTCTGAAAACCAAAAAGCAGCTAAGTTTTCAATATCATTTCATAATAGGGAAAACAAGGATCGTAGGCCCGGGGGAGGTGGAGCCCGGACAGGAACCCAGGCCCATTGGCCCCTCAGCTGCTGTGGACCGGATGTACCCTGCTGCCAGCCCTG... | CCCGTGACGGGCGGATCCCGACTGCACTTGCTCACTGCATCCGGGCTCTGGCTCCACTGCTCATGAGCTGCATAATCTTGGCCAAGTTAAAACTTGTCTAAGCCTTAGTTTCCACACCTAAAAAAGGGGAATTATAATTCGTATTCTGCCAAACACACATAAAAAGATTCTGAAAACCAAAAAGCAGCTAAGTTTTCAATATCATTTCATAATAGGGAAAACAAGGATCGTAGGCCCGGGGGAGGTGGAGCCCGGACAGGAACCCAGGCCCATTGGCCCCTCAGCTGCTGTGGACCGGATGTACCCTGCTGCCAGCCCTG... | pathogenic | 166,582 |
Is the genetic variant on chromosome 10, position 98427239, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | GCGGATCCCGACTGCACTTGCTCACTGCATCCGGGCTCTGGCTCCACTGCTCATGAGCTGCATAATCTTGGCCAAGTTAAAACTTGTCTAAGCCTTAGTTTCCACACCTAAAAAAGGGGAATTATAATTCGTATTCTGCCAAACACACATAAAAAGATTCTGAAAACCAAAAAGCAGCTAAGTTTTCAATATCATTTCATAATAGGGAAAACAAGGATCGTAGGCCCGGGGGAGGTGGAGCCCGGACAGGAACCCAGGCCCATTGGCCCCTCAGCTGCTGTGGACCGGATGTACCCTGCTGCCAGCCCTGCCTCTTCCCC... | GCGGATCCCGACTGCACTTGCTCACTGCATCCGGGCTCTGGCTCCACTGCTCATGAGCTGCATAATCTTGGCCAAGTTAAAACTTGTCTAAGCCTTAGTTTCCACACCTAAAAAAGGGGAATTATAATTCGTATTCTGCCAAACACACATAAAAAGATTCTGAAAACCAAAAAGCAGCTAAGTTTTCAATATCATTTCATAATAGGGAAAACAAGGATCGTAGGCCCGGGGGAGGTGGAGCCCGGACAGGAACCCAGGCCCATTGGCCCCTCAGCTGCTGTGGACCGGATGTACCCTGCTGCCAGCCCTGCCTCTTCCCC... | pathogenic | 166,583 |
Determine if the mutation at chromosome 10, position 98427239 in gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | GCGGATCCCGACTGCACTTGCTCACTGCATCCGGGCTCTGGCTCCACTGCTCATGAGCTGCATAATCTTGGCCAAGTTAAAACTTGTCTAAGCCTTAGTTTCCACACCTAAAAAAGGGGAATTATAATTCGTATTCTGCCAAACACACATAAAAAGATTCTGAAAACCAAAAAGCAGCTAAGTTTTCAATATCATTTCATAATAGGGAAAACAAGGATCGTAGGCCCGGGGGAGGTGGAGCCCGGACAGGAACCCAGGCCCATTGGCCCCTCAGCTGCTGTGGACCGGATGTACCCTGCTGCCAGCCCTGCCTCTTCCCC... | GCGGATCCCGACTGCACTTGCTCACTGCATCCGGGCTCTGGCTCCACTGCTCATGAGCTGCATAATCTTGGCCAAGTTAAAACTTGTCTAAGCCTTAGTTTCCACACCTAAAAAAGGGGAATTATAATTCGTATTCTGCCAAACACACATAAAAAGATTCTGAAAACCAAAAAGCAGCTAAGTTTTCAATATCATTTCATAATAGGGAAAACAAGGATCGTAGGCCCGGGGGAGGTGGAGCCCGGACAGGAACCCAGGCCCATTGGCCCCTCAGCTGCTGTGGACCGGATGTACCCTGCTGCCAGCCCTGCCTCTTCCCC... | pathogenic | 166,584 |
Mutation found at chromosome 10 position 98429592, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | TAATGGTGGTCAGGGGGTAGAGGGGCATCTTCCTCCCCCCTCCCTTGCCCCCAATCCCCTCCTTGTTCTGTCCCCTGTATTCCTTCAGGCCTCAACCCGCCCCTCAGGAGTCAGCACACACAGTCCACGTTTGCCCATTCATTTATTCAACCGGCAAGCTCTTACTGAGCACCTGCTGTGTGCTGGGAATTGAGGTGGATTTCCTTCCTAATATAACGCACAAAAACCTACTGAACCCACCACATATCTGAAATATTATGTGTCTGTAATAATACTGTTACCTCTTATATTTCATTGCAAACAACCCTCATTTATAATCA... | TAATGGTGGTCAGGGGGTAGAGGGGCATCTTCCTCCCCCCTCCCTTGCCCCCAATCCCCTCCTTGTTCTGTCCCCTGTATTCCTTCAGGCCTCAACCCGCCCCTCAGGAGTCAGCACACACAGTCCACGTTTGCCCATTCATTTATTCAACCGGCAAGCTCTTACTGAGCACCTGCTGTGTGCTGGGAATTGAGGTGGATTTCCTTCCTAATATAACGCACAAAAACCTACTGAACCCACCACATATCTGAAATATTATGTGTCTGTAATAATACTGTTACCTCTTATATTTCATTGCAAACAACCCTCATTTATAATCA... | pathogenic | 166,594 |
Variant chromosome 10, position 98429805, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | TAACGCACAAAAACCTACTGAACCCACCACATATCTGAAATATTATGTGTCTGTAATAATACTGTTACCTCTTATATTTCATTGCAAACAACCCTCATTTATAATCATGTTTCTTTGGGGGAAGTGTGTTCCTACATCTTAAACACCTGATTTACAAATGGATGAGTGCAACCCAAACCATTTGTAAGTTGTGAGTTCTCTGCACGGTGGAACAGCATTATTTTTTACAGTTTTAAGGCATAAAAAACCACTATCAAGAGAGAGGGACTGGGAGGAAGATGGTGATGAATGAGGAAGGGAGTGGTAAGAGGAACTTCGGA... | TAACGCACAAAAACCTACTGAACCCACCACATATCTGAAATATTATGTGTCTGTAATAATACTGTTACCTCTTATATTTCATTGCAAACAACCCTCATTTATAATCATGTTTCTTTGGGGGAAGTGTGTTCCTACATCTTAAACACCTGATTTACAAATGGATGAGTGCAACCCAAACCATTTGTAAGTTGTGAGTTCTCTGCACGGTGGAACAGCATTATTTTTTACAGTTTTAAGGCATAAAAAACCACTATCAAGAGAGAGGGACTGGGAGGAAGATGGTGATGAATGAGGAAGGGAGTGGTAAGAGGAACTTCGGA... | pathogenic | 166,597 |
Variant chromosome 10, position 98429877, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | TATATTTCATTGCAAACAACCCTCATTTATAATCATGTTTCTTTGGGGGAAGTGTGTTCCTACATCTTAAACACCTGATTTACAAATGGATGAGTGCAACCCAAACCATTTGTAAGTTGTGAGTTCTCTGCACGGTGGAACAGCATTATTTTTTACAGTTTTAAGGCATAAAAAACCACTATCAAGAGAGAGGGACTGGGAGGAAGATGGTGATGAATGAGGAAGGGAGTGGTAAGAGGAACTTCGGAGATTACCCAGAACTCTGCTTCTCAACAGGTCTCAGGCTCATCAAGAGCTCAGGGAATCTGAAGATAGCTAGG... | TATATTTCATTGCAAACAACCCTCATTTATAATCATGTTTCTTTGGGGGAAGTGTGTTCCTACATCTTAAACACCTGATTTACAAATGGATGAGTGCAACCCAAACCATTTGTAAGTTGTGAGTTCTCTGCACGGTGGAACAGCATTATTTTTTACAGTTTTAAGGCATAAAAAACCACTATCAAGAGAGAGGGACTGGGAGGAAGATGGTGATGAATGAGGAAGGGAGTGGTAAGAGGAACTTCGGAGATTACCCAGAACTCTGCTTCTCAACAGGTCTCAGGCTCATCAAGAGCTCAGGGAATCTGAAGATAGCTAGG... | pathogenic | 166,602 |
Clinically, how would you classify the variant at chromosome 10, position 98431246, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | AAGTATAAACTACAGATGCTGAATATATTTTAGAATGTATAGAAATTAGATGATTATTACTAAATTTAACTTAATTTTTAATTTTAATTACAAAAAAGATGAGTCTGAGAATGCATGTACAGAAGTTTTAAATGAATCAACTTGTCATCAACAGCTTTAGGGATCAGTGGAGTGGTCTTAACAATCCTTGAGTTCAGGCTGGAGCTGGCAGGGAAGATGGGGAGCCGCAGACAGCGTCCTGTGCTCTAGGAACACGGGTACCTGCACTCAAGCCTTAGGAGGCACGGGGGTCCACTGGAGCCTAAGACAGATGTCCTGGG... | AAGTATAAACTACAGATGCTGAATATATTTTAGAATGTATAGAAATTAGATGATTATTACTAAATTTAACTTAATTTTTAATTTTAATTACAAAAAAGATGAGTCTGAGAATGCATGTACAGAAGTTTTAAATGAATCAACTTGTCATCAACAGCTTTAGGGATCAGTGGAGTGGTCTTAACAATCCTTGAGTTCAGGCTGGAGCTGGCAGGGAAGATGGGGAGCCGCAGACAGCGTCCTGTGCTCTAGGAACACGGGTACCTGCACTCAAGCCTTAGGAGGCACGGGGGTCCACTGGAGCCTAAGACAGATGTCCTGGG... | pathogenic | 166,617 |
Is the genetic change at chromosome 10, position 98434013, within gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | ATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTC... | ATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTC... | pathogenic | 166,625 |
Chromosome 10, position 98435314, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | AGCCCCCATCCCAGACTCGCTAAATGAGAAAAGCTGAAAGTGAGGCCCAGTAACCTGTATTTAACAAGCCCTACAGAGGATTCTGACACACACTGGAGTATGAAAACCACTGCTTGAAAGAGAATTTGGTTTACCTCTTTAGGAAGGCAAGGAGTGCTACTGACCAGCAGCCACTTTAGTTTTTATTTTTAATTTTTTAGTTTTTTATTTACTAGGGCTTTATAAAAGGACCAGTAGCCACTTTAACTTTTTGGGGCTGGGCTTAACCTAGAGTTGCAGGCTCAGCTCTCCTATGCTGCTGCTGGCCTAAGGCTATTTAC... | AGCCCCCATCCCAGACTCGCTAAATGAGAAAAGCTGAAAGTGAGGCCCAGTAACCTGTATTTAACAAGCCCTACAGAGGATTCTGACACACACTGGAGTATGAAAACCACTGCTTGAAAGAGAATTTGGTTTACCTCTTTAGGAAGGCAAGGAGTGCTACTGACCAGCAGCCACTTTAGTTTTTATTTTTAATTTTTTAGTTTTTTATTTACTAGGGCTTTATAAAAGGACCAGTAGCCACTTTAACTTTTTGGGGCTGGGCTTAACCTAGAGTTGCAGGCTCAGCTCTCCTATGCTGCTGCTGGCCTAAGGCTATTTAC... | pathogenic | 166,635 |
Variant in gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1), located at chromosome 10 position 98435359: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | CCCAGTAACCTGTATTTAACAAGCCCTACAGAGGATTCTGACACACACTGGAGTATGAAAACCACTGCTTGAAAGAGAATTTGGTTTACCTCTTTAGGAAGGCAAGGAGTGCTACTGACCAGCAGCCACTTTAGTTTTTATTTTTAATTTTTTAGTTTTTTATTTACTAGGGCTTTATAAAAGGACCAGTAGCCACTTTAACTTTTTGGGGCTGGGCTTAACCTAGAGTTGCAGGCTCAGCTCTCCTATGCTGCTGCTGGCCTAAGGCTATTTACTGGCTGTAGTGCTGGTATCATTTGCACTCAGGGAATCTTGCCTTT... | CCCAGTAACCTGTATTTAACAAGCCCTACAGAGGATTCTGACACACACTGGAGTATGAAAACCACTGCTTGAAAGAGAATTTGGTTTACCTCTTTAGGAAGGCAAGGAGTGCTACTGACCAGCAGCCACTTTAGTTTTTATTTTTAATTTTTTAGTTTTTTATTTACTAGGGCTTTATAAAAGGACCAGTAGCCACTTTAACTTTTTGGGGCTGGGCTTAACCTAGAGTTGCAGGCTCAGCTCTCCTATGCTGCTGCTGGCCTAAGGCTATTTACTGGCTGTAGTGCTGGTATCATTTGCACTCAGGGAATCTTGCCTTT... | pathogenic | 166,636 |
The mutation in gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) at chromosome 10, position 98435647—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['HPS1-related_disorder', 'Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_1'] | GGTATCATTTGCACTCAGGGAATCTTGCCTTTAGCGCTGTGTTTTTCTCCACTGCTTTCCCCTCCAGTTCCAGCTCAATATAATTTTGTGGGAAAAGGAGGGGAGGGTTGAAGGAACTGTCTTCAAAGATTCCTGTAATTTACAGTGAACCCAAAAATTGCATTAAAAGTATGTGTTATCCAGGATCGAGCTGTTTTACCATGGGAAAGCCCATCAGGGTACCCAACCCTCCATATGGCCAGAAAGAACAACTCTCTCTGAATACACGAGTTTCAGGGGCTGCTTGTGCCTTCATTCATTAGGGTTAAAACATGGTCTTA... | GGTATCATTTGCACTCAGGGAATCTTGCCTTTAGCGCTGTGTTTTTCTCCACTGCTTTCCCCTCCAGTTCCAGCTCAATATAATTTTGTGGGAAAAGGAGGGGAGGGTTGAAGGAACTGTCTTCAAAGATTCCTGTAATTTACAGTGAACCCAAAAATTGCATTAAAAGTATGTGTTATCCAGGATCGAGCTGTTTTACCATGGGAAAGCCCATCAGGGTACCCAACCCTCCATATGGCCAGAAAGAACAACTCTCTCTGAATACACGAGTTTCAGGGGCTGCTTGTGCCTTCATTCATTAGGGTTAAAACATGGTCTTA... | pathogenic | 166,639 |
Considering the variant on chromosome 10, location 98435651, involving gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hermansky-Pudlak_syndrome'] | TCATTTGCACTCAGGGAATCTTGCCTTTAGCGCTGTGTTTTTCTCCACTGCTTTCCCCTCCAGTTCCAGCTCAATATAATTTTGTGGGAAAAGGAGGGGAGGGTTGAAGGAACTGTCTTCAAAGATTCCTGTAATTTACAGTGAACCCAAAAATTGCATTAAAAGTATGTGTTATCCAGGATCGAGCTGTTTTACCATGGGAAAGCCCATCAGGGTACCCAACCCTCCATATGGCCAGAAAGAACAACTCTCTCTGAATACACGAGTTTCAGGGGCTGCTTGTGCCTTCATTCATTAGGGTTAAAACATGGTCTTAAAGG... | TCATTTGCACTCAGGGAATCTTGCCTTTAGCGCTGTGTTTTTCTCCACTGCTTTCCCCTCCAGTTCCAGCTCAATATAATTTTGTGGGAAAAGGAGGGGAGGGTTGAAGGAACTGTCTTCAAAGATTCCTGTAATTTACAGTGAACCCAAAAATTGCATTAAAAGTATGTGTTATCCAGGATCGAGCTGTTTTACCATGGGAAAGCCCATCAGGGTACCCAACCCTCCATATGGCCAGAAAGAACAACTCTCTCTGAATACACGAGTTTCAGGGGCTGCTTGTGCCTTCATTCATTAGGGTTAAAACATGGTCTTAAAGG... | pathogenic | 166,640 |
Evaluate this variant at chromosome 10, position 98443140, gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hermansky-Pudlak_syndrome_1'] | GCTGGATGATGAGACCCCTTAGAGCAGAAAGGGACAGAGAGGCAATCAGCCCATGCTGCAGAAATGTAAGAACACCTTCCACTGCATCCCCAGTAAAAATATTTTTAACCCAAAATTAATCTGGAAAACATTTTCAAAATAAATTACTCCTTTAAAATGTAGAGTGGAAATTATGTAAGTGAAAATGACAAGTATTTCTGAGTTGTAATGTTAAACTGTTGAACTGGATGTCCACATGCAAAAAAAAAATTATCTTCAATCCATAGCTCATACCACACACAAAAATTCAAAGTAGATCATCAGACCTGATATAAAACCTA... | GCTGGATGATGAGACCCCTTAGAGCAGAAAGGGACAGAGAGGCAATCAGCCCATGCTGCAGAAATGTAAGAACACCTTCCACTGCATCCCCAGTAAAAATATTTTTAACCCAAAATTAATCTGGAAAACATTTTCAAAATAAATTACTCCTTTAAAATGTAGAGTGGAAATTATGTAAGTGAAAATGACAAGTATTTCTGAGTTGTAATGTTAAACTGTTGAACTGGATGTCCACATGCAAAAAAAAAATTATCTTCAATCCATAGCTCATACCACACACAAAAATTCAAAGTAGATCATCAGACCTGATATAAAACCTA... | pathogenic | 166,646 |
Assess the variant on chromosome 10, position 98490050, impacting HPSE2 (heparanase 2 (inactive)): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Urofacial_syndrome_type_1'] | TTATCATTAGGGTCACATGTAGAACGGATTATGAAAGTCTTTTCTTTCTGTCTTTTTAACAGAGAGTGAGAGAGGTTGTACTGATAGAAGCCCAGTGACACCGTTTCTCTAGAGAGGTTCTGGAGTGACTTTGCATAGAAATTAGAGGAGAGCTGGTGGTGTAGACAGACAGTCTTGAATGCAGATAATTTCAGTAACTTGTTTGAGGTCTCATGCTATGGAATGGTAGAATTCCTAACCACTCCACCATACCATTTCCTTCTGGCTGATGTCGTAATATCAAAGGGGAAGAAAGCTCTAACTCTAAATCAACAGTAACA... | TTATCATTAGGGTCACATGTAGAACGGATTATGAAAGTCTTTTCTTTCTGTCTTTTTAACAGAGAGTGAGAGAGGTTGTACTGATAGAAGCCCAGTGACACCGTTTCTCTAGAGAGGTTCTGGAGTGACTTTGCATAGAAATTAGAGGAGAGCTGGTGGTGTAGACAGACAGTCTTGAATGCAGATAATTTCAGTAACTTGTTTGAGGTCTCATGCTATGGAATGGTAGAATTCCTAACCACTCCACCATACCATTTCCTTCTGGCTGATGTCGTAATATCAAAGGGGAAGAAAGCTCTAACTCTAAATCAACAGTAACA... | pathogenic | 166,662 |
Does the chromosome 10 mutation at position 98693965 within gene HPSE2 (heparanase 2 (inactive)) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTATTTTTTCCACATAGTAAATGCCTAATAAACTATTGTCTAAATAAGTACTTGGTGAATTGAATAAGTGCCATTATGGTAGAAGAGAAAAACAAACAAATTACAAAAACAAGTCATAAGGAAAAAAGTAATTATAAATTATTATAAGTGCTATTAAAAAAGAACTAAGAAAAAGAATGAAATGGGGGACCTGTTTTTGGATAGAATCATCAGGGAAGGCCTCTCCAGGAAATGACATGTAAGGTGAGACTTAAAAGATGAAAAGGAGCTGGCCACACGAAGAGTAGGGAGAACAGCATTTCAGGCAGAAGGACTAGCAT... | TTATTTTTTCCACATAGTAAATGCCTAATAAACTATTGTCTAAATAAGTACTTGGTGAATTGAATAAGTGCCATTATGGTAGAAGAGAAAAACAAACAAATTACAAAAACAAGTCATAAGGAAAAAAGTAATTATAAATTATTATAAGTGCTATTAAAAAAGAACTAAGAAAAAGAATGAAATGGGGGACCTGTTTTTGGATAGAATCATCAGGGAAGGCCTCTCCAGGAAATGACATGTAAGGTGAGACTTAAAAGATGAAAAGGAGCTGGCCACACGAAGAGTAGGGAGAACAGCATTTCAGGCAGAAGGACTAGCAT... | benign | 166,670 |
Considering the genetic mutation at chromosome 10, position 99235745, impacting HPSE2 (heparanase 2 (inactive)): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['HPSE2-related_disorder', 'Urofacial_syndrome_type_1'] | TTTTTTGAGAAGAGACGTGGCTACCCCAGGGTCTTGTAACCAGAATGGTCGTTTGGCAGAAGTCTCCGGGACCGCACTCCAGGACAGGCACAGTCAGGGCGTCGCGTGGGCCTACTGTGGCAAAGGAGACGTCCGCGCGAATCCGGTCCTGGGGAAAGGGCAGTTCCAACAACCTTTCATCCAGAAGCCTGCACAGCCAATGCGAATGCGCCCCGCCAGGACTTCTTCCCCGAAAATCTGCCTTCCAGACTCTTTTCTGAGGCAGGAAAGCATTAGGCGAACAGGCAGATTTTTTAAAAAAAGAAAGAAAGCTGGTGGGG... | TTTTTTGAGAAGAGACGTGGCTACCCCAGGGTCTTGTAACCAGAATGGTCGTTTGGCAGAAGTCTCCGGGACCGCACTCCAGGACAGGCACAGTCAGGGCGTCGCGTGGGCCTACTGTGGCAAAGGAGACGTCCGCGCGAATCCGGTCCTGGGGAAAGGGCAGTTCCAACAACCTTTCATCCAGAAGCCTGCACAGCCAATGCGAATGCGCCCCGCCAGGACTTCTTCCCCGAAAATCTGCCTTCCAGACTCTTTTCTGAGGCAGGAAAGCATTAGGCGAACAGGCAGATTTTTTAAAAAAAGAAAGAAAGCTGGTGGGG... | pathogenic | 166,681 |
Considering the variant on chromosome 10, location 99721077, involving gene COX15 (cytochrome c oxidase assembly homolog COX15), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGTGCGTTATCTGTCTTCCCCAAATGCTCAATAAATGTTTGTTGACTGAATACGGAAGTGAGAAAAATCCCAAAACTTATAAACTAAATCCTGGATAAACAAATAAAGAGGGTATTCATGAATTAATGGATGTCTGATCCATTATTTATTATCAAAGAAAATCCAGAAATGTTTGGGTCACACTCGCTTTTTTCTTTCTTTTTTTTTTTGAGACGCAGTCTGGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGGTTCATGCAATTCTTCTGCCTCAGCCTCCCGAGT... | TGTGCGTTATCTGTCTTCCCCAAATGCTCAATAAATGTTTGTTGACTGAATACGGAAGTGAGAAAAATCCCAAAACTTATAAACTAAATCCTGGATAAACAAATAAAGAGGGTATTCATGAATTAATGGATGTCTGATCCATTATTTATTATCAAAGAAAATCCAGAAATGTTTGGGTCACACTCGCTTTTTTCTTTCTTTTTTTTTTTGAGACGCAGTCTGGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGGTTCATGCAATTCTTCTGCCTCAGCCTCCCGAGT... | benign | 166,705 |
Clinical significance of chromosome 10, position 99727414, gene COX15 (cytochrome c oxidase assembly homolog COX15): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCCCATACCTTATCTGACATCTTTAATTTCTGCCTCCCTAATAGTGTTTTCAGTGTTGGCTTGTTTTTCTAATTCTAAAATGTTAACTTTCATTTTGTTCTACATGCCTTTCTCTGGTTACTATTAGACTTTGATTATTGTTTCTGCTGCCTCTATTTCTTCTCTCTCATCTCCCTCCTTAATCCCTTCTTTCTTTATTTATTTTTTTTGAGCCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAACCTCTCAGCTCGCTGCAACCTCCGCCTCCCCGGTTCAATCAATTCTTCTGCCTCAGCCTCCGA... | CTCCCATACCTTATCTGACATCTTTAATTTCTGCCTCCCTAATAGTGTTTTCAGTGTTGGCTTGTTTTTCTAATTCTAAAATGTTAACTTTCATTTTGTTCTACATGCCTTTCTCTGGTTACTATTAGACTTTGATTATTGTTTCTGCTGCCTCTATTTCTTCTCTCTCATCTCCCTCCTTAATCCCTTCTTTCTTTATTTATTTTTTTTGAGCCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAACCTCTCAGCTCGCTGCAACCTCCGCCTCCCCGGTTCAATCAATTCTTCTGCCTCAGCCTCCGA... | benign | 166,723 |
Variant at chromosome position 99727553, chromosome 10, gene COX15 (cytochrome c oxidase assembly homolog COX15): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | TGTTTCTGCTGCCTCTATTTCTTCTCTCTCATCTCCCTCCTTAATCCCTTCTTTCTTTATTTATTTTTTTTGAGCCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAACCTCTCAGCTCGCTGCAACCTCCGCCTCCCCGGTTCAATCAATTCTTCTGCCTCAGCCTCCGAAATAGCTGGGACTACAGGCCCACGCCAGCATGCCCAGCTAATTTTGGTATTTTAGGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACTCCTGATCCCCCACCTTGGCTTCCGAAAGTGTTGGGATTAC... | TGTTTCTGCTGCCTCTATTTCTTCTCTCTCATCTCCCTCCTTAATCCCTTCTTTCTTTATTTATTTTTTTTGAGCCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAACCTCTCAGCTCGCTGCAACCTCCGCCTCCCCGGTTCAATCAATTCTTCTGCCTCAGCCTCCGAAATAGCTGGGACTACAGGCCCACGCCAGCATGCCCAGCTAATTTTGGTATTTTAGGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACTCCTGATCCCCCACCTTGGCTTCCGAAAGTGTTGGGATTAC... | pathogenic | 166,726 |
Gene mutation in ABCC2 (ATP binding cassette subfamily C member 2) at chromosome 10, position 99793897—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | CACATTGCTTTTTTATGCCCTAGCCTTGGAAGTCACACGCTGTCACTTCTGCCATTTTCTATTCACCAGAAGTACATCCCTAAGTCCCCAGCCCACACTCAAGGGAGAGGGAATTAAGCTCTGCTCTTTGAAGAGAGGAATATCAAAAAATCTGCAGACATATTTTAAAACTTCACACTCAGCATTCCTCAAAAACAATGATCATGGCATACTTTGAACATTATTCTATCACTTGAACTGTATGTATCCATTCTTTCCAGAAATATTTATTGTGTTATCTGAATCACTGCATACCGCTTTTCCTATCCATCACCGGAAAC... | CACATTGCTTTTTTATGCCCTAGCCTTGGAAGTCACACGCTGTCACTTCTGCCATTTTCTATTCACCAGAAGTACATCCCTAAGTCCCCAGCCCACACTCAAGGGAGAGGGAATTAAGCTCTGCTCTTTGAAGAGAGGAATATCAAAAAATCTGCAGACATATTTTAAAACTTCACACTCAGCATTCCTCAAAAACAATGATCATGGCATACTTTGAACATTATTCTATCACTTGAACTGTATGTATCCATTCTTTCCAGAAATATTTATTGTGTTATCTGAATCACTGCATACCGCTTTTCCTATCCATCACCGGAAAC... | pathogenic | 166,743 |
Mutation found at chromosome 10 position 99794413, gene ABCC2 (ATP binding cassette subfamily C member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Dubin-Johnson_syndrome'] | ACCTATACCACTTCTGCCCTGTTTACCTTTTCATTACCCATAGGCATCTAGGTGAAATGTACTCTTTGGGGATGAAATTAATTCCAAGGTCATCTGTCTTTTTCGCGGGATCCATAGTGAGGCAAAGCTTGGTTGGAATGGGGTGAAACAAATTTTAGCTTTTCATCTTCATTTGAGCATTAATGTATAGAGGCTTCTTCCTAGGTTAAGTATTAGCTTTCATGACTAAGATGTATATCTTATGTCCGCACATCTTGCCATCTAAGGGTCACAGAAGAGAGCTAAGTTTCTTGATGTAAAACAATATTTTAAATCTGTAA... | ACCTATACCACTTCTGCCCTGTTTACCTTTTCATTACCCATAGGCATCTAGGTGAAATGTACTCTTTGGGGATGAAATTAATTCCAAGGTCATCTGTCTTTTTCGCGGGATCCATAGTGAGGCAAAGCTTGGTTGGAATGGGGTGAAACAAATTTTAGCTTTTCATCTTCATTTGAGCATTAATGTATAGAGGCTTCTTCCTAGGTTAAGTATTAGCTTTCATGACTAAGATGTATATCTTATGTCCGCACATCTTGCCATCTAAGGGTCACAGAAGAGAGCTAAGTTTCTTGATGTAAAACAATATTTTAAATCTGTAA... | pathogenic | 166,745 |
Considering the variant on chromosome 10, location 99797271, involving gene ABCC2 (ATP binding cassette subfamily C member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Dubin-Johnson_syndrome'] | TTGGATTCTAAAGAAAACCAAATATATTGAAATATAGTTACCAAAATATTTTAAAAACAAATGTGTGATTTAGTAATACAAGTACTTCTTTATTAATGCATTAAATAACAAGATCTAGTGATGAGTCTAATAATTACCATAATTTTAAAGTAGTTATGAGCATAAGTGAGCTATGAGAACATGTGGGATTTCTCAGCCTGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAAT... | TTGGATTCTAAAGAAAACCAAATATATTGAAATATAGTTACCAAAATATTTTAAAAACAAATGTGTGATTTAGTAATACAAGTACTTCTTTATTAATGCATTAAATAACAAGATCTAGTGATGAGTCTAATAATTACCATAATTTTAAAGTAGTTATGAGCATAAGTGAGCTATGAGAACATGTGGGATTTCTCAGCCTGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAAT... | pathogenic | 166,746 |
Evaluate if the mutation on chromosome 10 at position 99797284 in ABCC2 (ATP binding cassette subfamily C member 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | AAAACCAAATATATTGAAATATAGTTACCAAAATATTTTAAAAACAAATGTGTGATTTAGTAATACAAGTACTTCTTTATTAATGCATTAAATAACAAGATCTAGTGATGAGTCTAATAATTACCATAATTTTAAAGTAGTTATGAGCATAAGTGAGCTATGAGAACATGTGGGATTTCTCAGCCTGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCC... | AAAACCAAATATATTGAAATATAGTTACCAAAATATTTTAAAAACAAATGTGTGATTTAGTAATACAAGTACTTCTTTATTAATGCATTAAATAACAAGATCTAGTGATGAGTCTAATAATTACCATAATTTTAAAGTAGTTATGAGCATAAGTGAGCTATGAGAACATGTGGGATTTCTCAGCCTGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCC... | pathogenic | 166,747 |
Evaluate if the mutation on chromosome 10 at position 99799221 in ABCC2 (ATP binding cassette subfamily C member 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Dubin-Johnson_syndrome'] | ACATTAGTGAGCAAGTTTGAAACGCACATGAAGAGAGAGCTGCAGAAAGCCAGGCGGGCACTCCAGAGACGGCAGGAGAAGAGCTCCCAGCAGAACTCTGGAGCCAGGCTGCCTGGCTTGAACAAGAATCAGAGTCAAAGCCAAGATGCCCTTGTCCTGGTAACTTTCCCTTGAGTGTCTGTGTGAGCGCGCTGCATGTTTCAGGCAAGGGTACATCAGCATCATGGCGATTCTGTCCTTACATTTTTATAGCACTTCATACTTCTCAGTGCACTTCATATTATTAATGGTATTCACAATACTGATACTACCTTAGTGAT... | ACATTAGTGAGCAAGTTTGAAACGCACATGAAGAGAGAGCTGCAGAAAGCCAGGCGGGCACTCCAGAGACGGCAGGAGAAGAGCTCCCAGCAGAACTCTGGAGCCAGGCTGCCTGGCTTGAACAAGAATCAGAGTCAAAGCCAAGATGCCCTTGTCCTGGTAACTTTCCCTTGAGTGTCTGTGTGAGCGCGCTGCATGTTTCAGGCAAGGGTACATCAGCATCATGGCGATTCTGTCCTTACATTTTTATAGCACTTCATACTTCTCAGTGCACTTCATATTATTAATGGTATTCACAATACTGATACTACCTTAGTGAT... | pathogenic | 166,751 |
Clinical classification of chromosome 10, position 99813046, gene ABCC2 (ATP binding cassette subfamily C member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Dubin-Johnson_syndrome'] | TAGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAGAAAAGGACTTTAGGCTGGATGCAGTGTCTCATACCTGTAATCCTCACCCTTTGGGAGGCTGAGATGGGCAGATTGCTTGAGTCCAAGAGTTCGAGACTAGCCTGGGTGACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACCTGGAGGCTGAGGTCGGAGAATCTCTTGAGCCCGGAAAGTCAAGGCGGCAGTCAGCCAAGATTGCACCACTGCACTCCATCCTGGGTGACAAAGTG... | TAGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAGAAAAGGACTTTAGGCTGGATGCAGTGTCTCATACCTGTAATCCTCACCCTTTGGGAGGCTGAGATGGGCAGATTGCTTGAGTCCAAGAGTTCGAGACTAGCCTGGGTGACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACCTGGAGGCTGAGGTCGGAGAATCTCTTGAGCCCGGAAAGTCAAGGCGGCAGTCAGCCAAGATTGCACCACTGCACTCCATCCTGGGTGACAAAGTG... | pathogenic | 166,770 |
Does the chromosome 10 mutation at position 99817364 within gene ABCC2 (ATP binding cassette subfamily C member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['ABCC2-related_disorder', 'Dubin-Johnson_syndrome'] | GTACCACATTTTCTTTATCCAGTCTATCATTGATGATGCCCGGCTAATTTTTGTACTTTTAGTAGAGGCGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCATCTGCCTCAGTCTCCCAAAGTGCTGGGATTATATGGGTAAGCCACTGGGACTGGCTAATTATGCTTTTTTTTTTAACGGAGGAAAATGTTTTCATGGCATCTTCATCAGTACTCTGAACTTTTCCAGAGAGCTAAATTTAGGGAAAATTATAGTTATTTTTGAATTGTTATCACTACTTGTACCAAACAGAGGAGT... | GTACCACATTTTCTTTATCCAGTCTATCATTGATGATGCCCGGCTAATTTTTGTACTTTTAGTAGAGGCGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCATCTGCCTCAGTCTCCCAAAGTGCTGGGATTATATGGGTAAGCCACTGGGACTGGCTAATTATGCTTTTTTTTTTAACGGAGGAAAATGTTTTCATGGCATCTTCATCAGTACTCTGAACTTTTCCAGAGAGCTAAATTTAGGGAAAATTATAGTTATTTTTGAATTGTTATCACTACTTGTACCAAACAGAGGAGT... | pathogenic | 166,774 |
Does the variant on chromosome 10 at location 99817472 affecting gene ABCC2 (ATP binding cassette subfamily C member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['ABCC2-related_disorder'] | GGCCTCAAGTGATCCATCTGCCTCAGTCTCCCAAAGTGCTGGGATTATATGGGTAAGCCACTGGGACTGGCTAATTATGCTTTTTTTTTTAACGGAGGAAAATGTTTTCATGGCATCTTCATCAGTACTCTGAACTTTTCCAGAGAGCTAAATTTAGGGAAAATTATAGTTATTTTTGAATTGTTATCACTACTTGTACCAAACAGAGGAGTATCTATAGATTTTCAGCTTTTTTTCTTAAGATCTTCATATATATATTGCTAAGGGTTTCTTTTTAAGTATGAGAATGCTTCCTCCAATTGATTTATATTGACCTGCTT... | GGCCTCAAGTGATCCATCTGCCTCAGTCTCCCAAAGTGCTGGGATTATATGGGTAAGCCACTGGGACTGGCTAATTATGCTTTTTTTTTTAACGGAGGAAAATGTTTTCATGGCATCTTCATCAGTACTCTGAACTTTTCCAGAGAGCTAAATTTAGGGAAAATTATAGTTATTTTTGAATTGTTATCACTACTTGTACCAAACAGAGGAGTATCTATAGATTTTCAGCTTTTTTTCTTAAGATCTTCATATATATATTGCTAAGGGTTTCTTTTTAAGTATGAGAATGCTTCCTCCAATTGATTTATATTGACCTGCTT... | pathogenic | 166,775 |
Located at chromosome 10 position 99818841, the variant affecting gene ABCC2 (ATP binding cassette subfamily C member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic | GTGAACTGCACATGCCAGGGATCTAGGTTGCATCTACTGCCTGATGATCTGAGGTGGAACAGTTTCATCCCGAAACCATCTCCCACCACCACCCCATCTATGGAAAAATTGTCTTCCACAAAACCGGTCCCTGGTGCCAAAAAGTTGAGGACCGCTGATCTATACCATTCCCTTGTCAGTGTTAGCCTTTCGTTGGTCCTAGTAAACTCAATTGGGTTTGACTAAAACCCTCTTCTAGAAGCATCACACACATTTATCATCTAATTTTCAGGATCATGGCTGAAAAACGATAGTCCAACAAAAGTGGATGGGGCTTTTAA... | GTGAACTGCACATGCCAGGGATCTAGGTTGCATCTACTGCCTGATGATCTGAGGTGGAACAGTTTCATCCCGAAACCATCTCCCACCACCACCCCATCTATGGAAAAATTGTCTTCCACAAAACCGGTCCCTGGTGCCAAAAAGTTGAGGACCGCTGATCTATACCATTCCCTTGTCAGTGTTAGCCTTTCGTTGGTCCTAGTAAACTCAATTGGGTTTGACTAAAACCCTCTTCTAGAAGCATCACACACATTTATCATCTAATTTTCAGGATCATGGCTGAAAAACGATAGTCCAACAAAAGTGGATGGGGCTTTTAA... | pathogenic | 166,777 |
Variant at chromosome 10, position 99818879, gene ABCC2 (ATP binding cassette subfamily C member 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Dubin-Johnson_syndrome'] | GCCTGATGATCTGAGGTGGAACAGTTTCATCCCGAAACCATCTCCCACCACCACCCCATCTATGGAAAAATTGTCTTCCACAAAACCGGTCCCTGGTGCCAAAAAGTTGAGGACCGCTGATCTATACCATTCCCTTGTCAGTGTTAGCCTTTCGTTGGTCCTAGTAAACTCAATTGGGTTTGACTAAAACCCTCTTCTAGAAGCATCACACACATTTATCATCTAATTTTCAGGATCATGGCTGAAAAACGATAGTCCAACAAAAGTGGATGGGGCTTTTAATGGTGAAGAGGATATTGAGTCCTGAGAGTGGAATAACT... | GCCTGATGATCTGAGGTGGAACAGTTTCATCCCGAAACCATCTCCCACCACCACCCCATCTATGGAAAAATTGTCTTCCACAAAACCGGTCCCTGGTGCCAAAAAGTTGAGGACCGCTGATCTATACCATTCCCTTGTCAGTGTTAGCCTTTCGTTGGTCCTAGTAAACTCAATTGGGTTTGACTAAAACCCTCTTCTAGAAGCATCACACACATTTATCATCTAATTTTCAGGATCATGGCTGAAAAACGATAGTCCAACAAAAGTGGATGGGGCTTTTAATGGTGAAGAGGATATTGAGTCCTGAGAGTGGAATAACT... | pathogenic | 166,778 |
Variant at chromosome position 99818943, chromosome 10, gene ABCC2 (ATP binding cassette subfamily C member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | GAAAAATTGTCTTCCACAAAACCGGTCCCTGGTGCCAAAAAGTTGAGGACCGCTGATCTATACCATTCCCTTGTCAGTGTTAGCCTTTCGTTGGTCCTAGTAAACTCAATTGGGTTTGACTAAAACCCTCTTCTAGAAGCATCACACACATTTATCATCTAATTTTCAGGATCATGGCTGAAAAACGATAGTCCAACAAAAGTGGATGGGGCTTTTAATGGTGAAGAGGATATTGAGTCCTGAGAGTGGAATAACTACAAGCACGTGAATACATATCAGATCCTCAGTCATCCTGATGCACAGTTATTTAAATTTAAGCT... | GAAAAATTGTCTTCCACAAAACCGGTCCCTGGTGCCAAAAAGTTGAGGACCGCTGATCTATACCATTCCCTTGTCAGTGTTAGCCTTTCGTTGGTCCTAGTAAACTCAATTGGGTTTGACTAAAACCCTCTTCTAGAAGCATCACACACATTTATCATCTAATTTTCAGGATCATGGCTGAAAAACGATAGTCCAACAAAAGTGGATGGGGCTTTTAATGGTGAAGAGGATATTGAGTCCTGAGAGTGGAATAACTACAAGCACGTGAATACATATCAGATCCTCAGTCATCCTGATGCACAGTTATTTAAATTTAAGCT... | pathogenic | 166,779 |
Variant at chromosome 10, position 99832083, gene ABCC2 (ATP binding cassette subfamily C member 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | TGGGCATTTCTAGGAATTTTCTTCTCCATTTTGACCATTTTCTCTTCCAGTGGAATATTAATTCATCTCTCCTTTATCCTGATATTTCTTAATAACAAGATGTACTAATAACTATGTATGGAGTATTTATGGAGTAAAGTATTCCATGCTGTATGTACATCTGGGATCCCTTGCTGAAACCAGCAAGATCAGAGGAGGCTTCTCTCTCCTTGTTCATAGGACTGACAGGGATCTATGCAGCTCTTTCCCTAACCTCTACTGTGTCTCCCTAGTCCATGATGGCAGTGAAGAAGAAGACGATGACTATGGGCTGATATCCA... | TGGGCATTTCTAGGAATTTTCTTCTCCATTTTGACCATTTTCTCTTCCAGTGGAATATTAATTCATCTCTCCTTTATCCTGATATTTCTTAATAACAAGATGTACTAATAACTATGTATGGAGTATTTATGGAGTAAAGTATTCCATGCTGTATGTACATCTGGGATCCCTTGCTGAAACCAGCAAGATCAGAGGAGGCTTCTCTCTCCTTGTTCATAGGACTGACAGGGATCTATGCAGCTCTTTCCCTAACCTCTACTGTGTCTCCCTAGTCCATGATGGCAGTGAAGAAGAAGACGATGACTATGGGCTGATATCCA... | pathogenic | 166,793 |
Assess the variant on chromosome 10, position 99832090, impacting ABCC2 (ATP binding cassette subfamily C member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | TTCTAGGAATTTTCTTCTCCATTTTGACCATTTTCTCTTCCAGTGGAATATTAATTCATCTCTCCTTTATCCTGATATTTCTTAATAACAAGATGTACTAATAACTATGTATGGAGTATTTATGGAGTAAAGTATTCCATGCTGTATGTACATCTGGGATCCCTTGCTGAAACCAGCAAGATCAGAGGAGGCTTCTCTCTCCTTGTTCATAGGACTGACAGGGATCTATGCAGCTCTTTCCCTAACCTCTACTGTGTCTCCCTAGTCCATGATGGCAGTGAAGAAGAAGACGATGACTATGGGCTGATATCCAGTGTGGA... | TTCTAGGAATTTTCTTCTCCATTTTGACCATTTTCTCTTCCAGTGGAATATTAATTCATCTCTCCTTTATCCTGATATTTCTTAATAACAAGATGTACTAATAACTATGTATGGAGTATTTATGGAGTAAAGTATTCCATGCTGTATGTACATCTGGGATCCCTTGCTGAAACCAGCAAGATCAGAGGAGGCTTCTCTCTCCTTGTTCATAGGACTGACAGGGATCTATGCAGCTCTTTCCCTAACCTCTACTGTGTCTCCCTAGTCCATGATGGCAGTGAAGAAGAAGACGATGACTATGGGCTGATATCCAGTGTGGA... | pathogenic | 166,794 |
Gene ABCC2 variant at chromosome position 99834455 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Dubin-Johnson_syndrome'] | GTGTGTAGAAAGGTGGTCTGGGAGTACAAAGGAAAAAAAGGCACTAGCCCAGCCTGCGTGATAAAGGTGGGAAATGTCAGAAAAGGTGAAACTTAAGTCATAGAAGCAAGCCAGGGAGATGGCAAGGGTTGGGGGATGGCAGTAGAGCAGGGTGAGAAGGATTATTCTGCAGAGGAAGGAACATAAATAAAAGCACTGTCACAGCCTGGGACAGGAAATACAAGAGATAGTAGGATAACCCTTTGCTTGGCCTCTGCCTCCATTCCTGAAACTTCTATCTTGAATGCTTTAAGAATGAGTAAATTTGGTCTGGACTATGG... | GTGTGTAGAAAGGTGGTCTGGGAGTACAAAGGAAAAAAAGGCACTAGCCCAGCCTGCGTGATAAAGGTGGGAAATGTCAGAAAAGGTGAAACTTAAGTCATAGAAGCAAGCCAGGGAGATGGCAAGGGTTGGGGGATGGCAGTAGAGCAGGGTGAGAAGGATTATTCTGCAGAGGAAGGAACATAAATAAAAGCACTGTCACAGCCTGGGACAGGAAATACAAGAGATAGTAGGATAACCCTTTGCTTGGCCTCTGCCTCCATTCCTGAAACTTCTATCTTGAATGCTTTAAGAATGAGTAAATTTGGTCTGGACTATGG... | pathogenic | 166,797 |
Clinical classification of chromosome 10, position 99834518, gene ABCC2: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Dubin-Johnson_syndrome'] | AAGGTGGGAAATGTCAGAAAAGGTGAAACTTAAGTCATAGAAGCAAGCCAGGGAGATGGCAAGGGTTGGGGGATGGCAGTAGAGCAGGGTGAGAAGGATTATTCTGCAGAGGAAGGAACATAAATAAAAGCACTGTCACAGCCTGGGACAGGAAATACAAGAGATAGTAGGATAACCCTTTGCTTGGCCTCTGCCTCCATTCCTGAAACTTCTATCTTGAATGCTTTAAGAATGAGTAAATTTGGTCTGGACTATGGAATAGAGCCATCAGTGATTTTAAAAAGTTCTCAAATATTGTTTCCATCTACCACAGATCCTGG... | AAGGTGGGAAATGTCAGAAAAGGTGAAACTTAAGTCATAGAAGCAAGCCAGGGAGATGGCAAGGGTTGGGGGATGGCAGTAGAGCAGGGTGAGAAGGATTATTCTGCAGAGGAAGGAACATAAATAAAAGCACTGTCACAGCCTGGGACAGGAAATACAAGAGATAGTAGGATAACCCTTTGCTTGGCCTCTGCCTCCATTCCTGAAACTTCTATCTTGAATGCTTTAAGAATGAGTAAATTTGGTCTGGACTATGGAATAGAGCCATCAGTGATTTTAAAAAGTTCTCAAATATTGTTTCCATCTACCACAGATCCTGG... | pathogenic | 166,799 |
Regarding the variant found on chromosome 10 at position 99834523 in gene ABCC2: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Dubin-Johnson_syndrome', 'likely other unspecified diseases'] | GGGAAATGTCAGAAAAGGTGAAACTTAAGTCATAGAAGCAAGCCAGGGAGATGGCAAGGGTTGGGGGATGGCAGTAGAGCAGGGTGAGAAGGATTATTCTGCAGAGGAAGGAACATAAATAAAAGCACTGTCACAGCCTGGGACAGGAAATACAAGAGATAGTAGGATAACCCTTTGCTTGGCCTCTGCCTCCATTCCTGAAACTTCTATCTTGAATGCTTTAAGAATGAGTAAATTTGGTCTGGACTATGGAATAGAGCCATCAGTGATTTTAAAAAGTTCTCAAATATTGTTTCCATCTACCACAGATCCTGGACCCC... | GGGAAATGTCAGAAAAGGTGAAACTTAAGTCATAGAAGCAAGCCAGGGAGATGGCAAGGGTTGGGGGATGGCAGTAGAGCAGGGTGAGAAGGATTATTCTGCAGAGGAAGGAACATAAATAAAAGCACTGTCACAGCCTGGGACAGGAAATACAAGAGATAGTAGGATAACCCTTTGCTTGGCCTCTGCCTCCATTCCTGAAACTTCTATCTTGAATGCTTTAAGAATGAGTAAATTTGGTCTGGACTATGGAATAGAGCCATCAGTGATTTTAAAAAGTTCTCAAATATTGTTTCCATCTACCACAGATCCTGGACCCC... | pathogenic | 166,800 |
Clinical classification of chromosome 10, position 99836096, gene ABCC2 (ATP binding cassette subfamily C member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic | TCCTGAGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCCGATCTCAGGTGATCCACCCGCCTCGGCCTTGCAAAGTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAA... | TCCTGAGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCCGATCTCAGGTGATCCACCCGCCTCGGCCTTGCAAAGTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAA... | pathogenic | 166,802 |
Gene ABCC2 (ATP binding cassette subfamily C member 2) variant at chromosome 10, position 99836138—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | CAGGCTGGTCTTGAACTCCCGATCTCAGGTGATCCACCCGCCTCGGCCTTGCAAAGTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAATCGTTTTCCTAGGATATTTCCACAGTGGATGACACCCTGCCT... | CAGGCTGGTCTTGAACTCCCGATCTCAGGTGATCCACCCGCCTCGGCCTTGCAAAGTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAATCGTTTTCCTAGGATATTTCCACAGTGGATGACACCCTGCCT... | pathogenic | 166,804 |
Regarding the variant at chromosome 10 and position 99836175, affecting gene ABCC2 (ATP binding cassette subfamily C member 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | CCGCCTCGGCCTTGCAAAGTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAATCGTTTTCCTAGGATATTTCCACAGTGGATGACACCCTGCCTCAGTCCTTGCGCAGCTGGATTACATGCTTCCTGGGGA... | CCGCCTCGGCCTTGCAAAGTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAATCGTTTTCCTAGGATATTTCCACAGTGGATGACACCCTGCCTCAGTCCTTGCGCAGCTGGATTACATGCTTCCTGGGGA... | pathogenic | 166,805 |
Determine if the mutation at chromosome 10, position 99841987 in gene ABCC2 (ATP binding cassette subfamily C member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Dubin-Johnson_syndrome'] | AGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGC... | AGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGC... | pathogenic | 166,814 |
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