question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
The chromosome 6, position 51659791 genetic variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTTACAAGAACTCAGTGGGATCTAAATAAAATTGGGCAAAAGGAAAGATATTTCAATGTAAGCTAAGATGCATCAGCATC... | ACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTTACAAGAACTCAGTGGGATCTAAATAAAATTGGGCAAAAGGAAAGATATTTCAATGTAAGCTAAGATGCATCAGCATC... | pathogenic | 108,737 |
Evaluate if the mutation on chromosome 6 at position 51659926 in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTTACAAGAACTCAGTGGGATCTAAATAAAATTGGGCAAAAGGAAAGATATTTCAATGTAAGCTAAGATGCATCAGCATCATTTCTTTAAGCATTCTAATTCTCATACCACCATACACAATATTATAATAATGTCACTAACATGGTGAAGGTTTGGTAGTTGACAAAAATATCCAAAACTGAATAAATTTTGAATAATAATAAGCTATGAGTACC... | CCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTTACAAGAACTCAGTGGGATCTAAATAAAATTGGGCAAAAGGAAAGATATTTCAATGTAAGCTAAGATGCATCAGCATCATTTCTTTAAGCATTCTAATTCTCATACCACCATACACAATATTATAATAATGTCACTAACATGGTGAAGGTTTGGTAGTTGACAAAAATATCCAAAACTGAATAAATTTTGAATAATAATAAGCTATGAGTACC... | pathogenic | 108,743 |
Variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), located at chromosome 6 position 51744404: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TAAAATAAATGTTAAAAAGTATAAATATTCAAGCATGAAATTTTATGGTAATTAAAAGAATCATATGTAGAAACAGCTCCAAATGTCAAATGCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCC... | TAAAATAAATGTTAAAAAGTATAAATATTCAAGCATGAAATTTTATGGTAATTAAAAGAATCATATGTAGAAACAGCTCCAAATGTCAAATGCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCC... | pathogenic | 108,747 |
Variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), located at chromosome 6 position 51744414: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_dominant_polycystic_liver_disease', 'Autosomal_recessive_polycystic_kidney_disease'] | GTTAAAAAGTATAAATATTCAAGCATGAAATTTTATGGTAATTAAAAGAATCATATGTAGAAACAGCTCCAAATGTCAAATGCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCCCCAAATACAC... | GTTAAAAAGTATAAATATTCAAGCATGAAATTTTATGGTAATTAAAAGAATCATATGTAGAAACAGCTCCAAATGTCAAATGCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCCCCAAATACAC... | pathogenic | 108,749 |
Gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant at chromosome 6, position 51744431—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | TTCAAGCATGAAATTTTATGGTAATTAAAAGAATCATATGTAGAAACAGCTCCAAATGTCAAATGCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCCCCAAATACACATCAGTGAACAACAAAA... | TTCAAGCATGAAATTTTATGGTAATTAAAAGAATCATATGTAGAAACAGCTCCAAATGTCAAATGCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCCCCAAATACACATCAGTGAACAACAAAA... | pathogenic | 108,750 |
Chromosome 6, position 51744454, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATTAAAAGAATCATATGTAGAAACAGCTCCAAATGTCAAATGCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCCCCAAATACACATCAGTGAACAACAAAAAAAAAATCCTGCCCTCATGAAGT... | ATTAAAAGAATCATATGTAGAAACAGCTCCAAATGTCAAATGCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCCCCAAATACACATCAGTGAACAACAAAAAAAAAATCCTGCCCTCATGAAGT... | pathogenic | 108,751 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 51744495, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | GCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCCCCAAATACACATCAGTGAACAACAAAAAAAAAATCCTGCCCTCATGAAGTTTGTGTTCTAAAAAGGATAAACAGTACATTAACATAAGCAA... | GCTGTACTGTAGCAGTAGTTCAGGTGAAAGAAAGGTGAAAACAAGTAAAAAGATACATAGAACTGTCTGCATTTTAGGCTTTCATATTACAGATAAATTCTTAAACCAATGACCTGAAGGCCTCAGTTCATTCTGCATGCTCTTGGATGACGTGTAACAGCAAACTCTTCTGGCTGGTTACTTATAATCCATTCATTTGATCAGTCAACCAAAATTTATTGAGTAACCCCCAAATACACATCAGTGAACAACAAAAAAAAAATCCTGCCCTCATGAAGTTTGTGTTCTAAAAAGGATAAACAGTACATTAACATAAGCAA... | pathogenic | 108,752 |
Located at chromosome 6 position 51746780, the variant affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ACATTCTTACTAACCAAATATTTTGGATATCCTAATATGTAATCTTTATATAGATTGCTGATTTTTTAAGAAGCAAGATACAATAAAGTGTTCCTCTCATAACAACTGAACATAATATAATTATTTTTAGGAATTTCAGGGGTTTGCAGTATTTTAGAATTATTATAAATATCAATTATATTTATGCTATATGCAAAGAAAAATAGATATTCTCATTCAACAAATATCTATTGAAAACCTACAAAAGACAGGCTGGGTAACATGATGGTAATAAAGCCAAACATGGCACTGCACTTTCAGAATTTAGAGTCAAGTGGGCT... | ACATTCTTACTAACCAAATATTTTGGATATCCTAATATGTAATCTTTATATAGATTGCTGATTTTTTAAGAAGCAAGATACAATAAAGTGTTCCTCTCATAACAACTGAACATAATATAATTATTTTTAGGAATTTCAGGGGTTTGCAGTATTTTAGAATTATTATAAATATCAATTATATTTATGCTATATGCAAAGAAAAATAGATATTCTCATTCAACAAATATCTATTGAAAACCTACAAAAGACAGGCTGGGTAACATGATGGTAATAAAGCCAAACATGGCACTGCACTTTCAGAATTTAGAGTCAAGTGGGCT... | pathogenic | 108,759 |
Clinical classification of chromosome 6, position 51747785, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AAATTATCCAGTCTGTGGTACTTTGTTATAGCAGCACAAACAGACTAAGACATGTAACTTAACAGCTATATCAGCCCGGGATAAGACATGAACATAAGGAAAATTGGATAGTAAATTTTAAAAAGTGACAAAACAACACAAATTGCCTACCTACTCATGTTTAGGTACCTAATCATGATTCAGGGATAGGCATCAAAAAGAGACTCGTGTTAAGCCAAACACATGAATGTTCTAATTAGGGTGGCTTCTTTAGTTTTTTGCTTTGTTTTTTTTTCTTCCAATAAAGGAGTTTGCCCCAGTGTTGTGGGAAAGAAAAAGTA... | AAATTATCCAGTCTGTGGTACTTTGTTATAGCAGCACAAACAGACTAAGACATGTAACTTAACAGCTATATCAGCCCGGGATAAGACATGAACATAAGGAAAATTGGATAGTAAATTTTAAAAAGTGACAAAACAACACAAATTGCCTACCTACTCATGTTTAGGTACCTAATCATGATTCAGGGATAGGCATCAAAAAGAGACTCGTGTTAAGCCAAACACATGAATGTTCTAATTAGGGTGGCTTCTTTAGTTTTTTGCTTTGTTTTTTTTTCTTCCAATAAAGGAGTTTGCCCCAGTGTTGTGGGAAAGAAAAAGTA... | pathogenic | 108,764 |
Clinically, how would you classify the variant at chromosome 6, position 51747888, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | TTGGATAGTAAATTTTAAAAAGTGACAAAACAACACAAATTGCCTACCTACTCATGTTTAGGTACCTAATCATGATTCAGGGATAGGCATCAAAAAGAGACTCGTGTTAAGCCAAACACATGAATGTTCTAATTAGGGTGGCTTCTTTAGTTTTTTGCTTTGTTTTTTTTTCTTCCAATAAAGGAGTTTGCCCCAGTGTTGTGGGAAAGAAAAAGTAATTCATTCTTCCTGTTTCTAACTTTCTACTCTCTTTCATGGCATAAAAAAATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAA... | TTGGATAGTAAATTTTAAAAAGTGACAAAACAACACAAATTGCCTACCTACTCATGTTTAGGTACCTAATCATGATTCAGGGATAGGCATCAAAAAGAGACTCGTGTTAAGCCAAACACATGAATGTTCTAATTAGGGTGGCTTCTTTAGTTTTTTGCTTTGTTTTTTTTTCTTCCAATAAAGGAGTTTGCCCCAGTGTTGTGGGAAAGAAAAAGTAATTCATTCTTCCTGTTTCTAACTTTCTACTCTCTTTCATGGCATAAAAAAATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAA... | pathogenic | 108,765 |
Benign or pathogenic: chromosome 6, position 51747926, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | ATTGCCTACCTACTCATGTTTAGGTACCTAATCATGATTCAGGGATAGGCATCAAAAAGAGACTCGTGTTAAGCCAAACACATGAATGTTCTAATTAGGGTGGCTTCTTTAGTTTTTTGCTTTGTTTTTTTTTCTTCCAATAAAGGAGTTTGCCCCAGTGTTGTGGGAAAGAAAAAGTAATTCATTCTTCCTGTTTCTAACTTTCTACTCTCTTTCATGGCATAAAAAAATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGC... | ATTGCCTACCTACTCATGTTTAGGTACCTAATCATGATTCAGGGATAGGCATCAAAAAGAGACTCGTGTTAAGCCAAACACATGAATGTTCTAATTAGGGTGGCTTCTTTAGTTTTTTGCTTTGTTTTTTTTTCTTCCAATAAAGGAGTTTGCCCCAGTGTTGTGGGAAAGAAAAAGTAATTCATTCTTCCTGTTTCTAACTTTCTACTCTCTTTCATGGCATAAAAAAATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGC... | pathogenic | 108,768 |
Clinical classification of chromosome 6, position 51748056, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TTTCTTCCAATAAAGGAGTTTGCCCCAGTGTTGTGGGAAAGAAAAAGTAATTCATTCTTCCTGTTTCTAACTTTCTACTCTCTTTCATGGCATAAAAAAATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGCTAGACCTCATCGTTCAGTTCAGAGATTCCTGTCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGA... | TTTCTTCCAATAAAGGAGTTTGCCCCAGTGTTGTGGGAAAGAAAAAGTAATTCATTCTTCCTGTTTCTAACTTTCTACTCTCTTTCATGGCATAAAAAAATCCTATCTAATTTTCACATATTTGAATGAAACTCTTAGATCATATGTCAGAAAACAGTATTTACACCTGGTCTGAAATACCAATATCTGCTAGACCTCATCGTTCAGTTCAGAGATTCCTGTCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGA... | pathogenic | 108,774 |
Does the chromosome 6 mutation at position 51748277 within gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGAAGAATTAGAGTCAATTTATTACCAGCAAGTTTGAAAACATCCCAAAGAAGTCTCTCTAATTAAGACAAAACAATAAAACAATATCAATAAAACTTGCACTTCATTACTTCTGCCTCTTTCATCAGCTAAAGAAAATCACATGGCTGAGTCCAGATTCAAGGGGGAGGGAAATAGCCCCTGCCTCTTTAGTGAGAGATATTTTAAAAATCATATATCACAAG... | TCAGCAGACACAATCTCCTTCTATCTACTAGTTCCTGCACAAAAGGCTCCCAAGGTCTCCTTCTGAAGACCACTGACACTTTACTCCAATGAAGAATGAAGAATTAGAGTCAATTTATTACCAGCAAGTTTGAAAACATCCCAAAGAAGTCTCTCTAATTAAGACAAAACAATAAAACAATATCAATAAAACTTGCACTTCATTACTTCTGCCTCTTTCATCAGCTAAAGAAAATCACATGGCTGAGTCCAGATTCAAGGGGGAGGGAAATAGCCCCTGCCTCTTTAGTGAGAGATATTTTAAAAATCATATATCACAAG... | pathogenic | 108,779 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 51753238, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | AGAAGAATGATGGAGCCCTCCAATATAAAAGTAGGACTCAAAAGTCTTGGCCTGCTTTTCTGGTCTATAACAAATCAGTACCCATATCTGCCATCCCTGACCTACACCTGCAGATCCCTTCTTATTCAGGCCCTGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAA... | AGAAGAATGATGGAGCCCTCCAATATAAAAGTAGGACTCAAAAGTCTTGGCCTGCTTTTCTGGTCTATAACAAATCAGTACCCATATCTGCCATCCCTGACCTACACCTGCAGATCCCTTCTTATTCAGGCCCTGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAA... | pathogenic | 108,792 |
Gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant at chromosome 6, position 51753321—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Familial_cystic_renal_disease'] | ATATCTGCCATCCCTGACCTACACCTGCAGATCCCTTCTTATTCAGGCCCTGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAATTGAGTGAAAGGTATACAGGATCTCTCTATACTACCTTTGCAGCTTTTCTATAAATCCAAAATTATTACAAAATTAAAAGTTT... | ATATCTGCCATCCCTGACCTACACCTGCAGATCCCTTCTTATTCAGGCCCTGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAATTGAGTGAAAGGTATACAGGATCTCTCTATACTACCTTTGCAGCTTTTCTATAAATCCAAAATTATTACAAAATTAAAAGTTT... | pathogenic | 108,797 |
The mutation impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6 at position 51753371: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAATTGAGTGAAAGGTATACAGGATCTCTCTATACTACCTTTGCAGCTTTTCTATAAATCCAAAATTATTACAAAATTAAAAGTTTAATTAACAAGAACCAGGCTCGAATCTACCACTTACTACTTGAATGACTTT... | TGGACTATGTTATAGAAAAATGTAAGCATTCTTAATGCAGGGTATAAACCTGAATTGAATTCTGGAACAGAAAAAAACTGATAAAATTTGAAGAAAGTCTTGAGTTTAGTTCATGGTCATGTACCAATGTTAATGTCTTTGTTTTGACAAATATACTAGTATTATATCAGCTATTAATGGAAGAAAATTGAGTGAAAGGTATACAGGATCTCTCTATACTACCTTTGCAGCTTTTCTATAAATCCAAAATTATTACAAAATTAAAAGTTTAATTAACAAGAACCAGGCTCGAATCTACCACTTACTACTTGAATGACTTT... | benign | 108,800 |
Does the chromosome 6 mutation at position 51754815 within gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCCTTAAAGCAGTCTGAAATATGGAAATCATTTTTATTTAAATTTACGCTATTAATTTATAGCATGAACTGATGCCTGCCATCAGATATAGCATGCTACTGGGAAAGAGTAACAGAAATTCAGGAAAGAGATAAAATTGAAGTGGTCATTAAATCATCTATAATTTCAAAGCAGTGGAAATTTCACATCTGCTGAAGATGTTTTCTTTGAGGTAAAATGTGCATATGTGCTGACCACTAGTATATTATTTTAACATCACACTGATAATTAAGCACAGATTAGGACTGAAAATTCATAGCTTCTCCAAGCACAAAGGAACT... | TCCTTAAAGCAGTCTGAAATATGGAAATCATTTTTATTTAAATTTACGCTATTAATTTATAGCATGAACTGATGCCTGCCATCAGATATAGCATGCTACTGGGAAAGAGTAACAGAAATTCAGGAAAGAGATAAAATTGAAGTGGTCATTAAATCATCTATAATTTCAAAGCAGTGGAAATTTCACATCTGCTGAAGATGTTTTCTTTGAGGTAAAATGTGCATATGTGCTGACCACTAGTATATTATTTTAACATCACACTGATAATTAAGCACAGATTAGGACTGAAAATTCATAGCTTCTCCAAGCACAAAGGAACT... | pathogenic | 108,803 |
Determine if the mutation at chromosome 6, position 51754903 in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TAGCATGCTACTGGGAAAGAGTAACAGAAATTCAGGAAAGAGATAAAATTGAAGTGGTCATTAAATCATCTATAATTTCAAAGCAGTGGAAATTTCACATCTGCTGAAGATGTTTTCTTTGAGGTAAAATGTGCATATGTGCTGACCACTAGTATATTATTTTAACATCACACTGATAATTAAGCACAGATTAGGACTGAAAATTCATAGCTTCTCCAAGCACAAAGGAACTATCTCATTTGAACATTTTGTTTTATAAATGAAAATTCTCACAGTTGGGATTTCTGGGTGTCCCAGATGAATAGGCTCCAACTGGTAAT... | TAGCATGCTACTGGGAAAGAGTAACAGAAATTCAGGAAAGAGATAAAATTGAAGTGGTCATTAAATCATCTATAATTTCAAAGCAGTGGAAATTTCACATCTGCTGAAGATGTTTTCTTTGAGGTAAAATGTGCATATGTGCTGACCACTAGTATATTATTTTAACATCACACTGATAATTAAGCACAGATTAGGACTGAAAATTCATAGCTTCTCCAAGCACAAAGGAACTATCTCATTTGAACATTTTGTTTTATAAATGAAAATTCTCACAGTTGGGATTTCTGGGTGTCCCAGATGAATAGGCTCCAACTGGTAAT... | pathogenic | 108,804 |
Gene mutation in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) at chromosome 6, position 51772714—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GGTTTCTTTCATTTTTTTCCCACTGGTGATTTGGAAAGTATATATGCTATTCAAAATTCTAGTAAAACAAATTAACTCATATTTACCTCCTATGGCTATAGTTCCAGATTTTTATCTGATAATTTTGAATGGTGAAGATTCATTTATGTGTCATATTTGCTAAGCTATTATACACAGTTACTCAATCAAACACTAATCTAGGTGTTACTGTGAAGGTATTTTGTCAATGTGGTTAACACAGTTGAGTTTAAGGAGATTAGGCCACCCAATAATGTGGGTGGGCCTCATCAATCAGCCAGAAGACCTTAAAAGCAAAAGTG... | GGTTTCTTTCATTTTTTTCCCACTGGTGATTTGGAAAGTATATATGCTATTCAAAATTCTAGTAAAACAAATTAACTCATATTTACCTCCTATGGCTATAGTTCCAGATTTTTATCTGATAATTTTGAATGGTGAAGATTCATTTATGTGTCATATTTGCTAAGCTATTATACACAGTTACTCAATCAAACACTAATCTAGGTGTTACTGTGAAGGTATTTTGTCAATGTGGTTAACACAGTTGAGTTTAAGGAGATTAGGCCACCCAATAATGTGGGTGGGCCTCATCAATCAGCCAGAAGACCTTAAAAGCAAAAGTG... | pathogenic | 108,811 |
The mutation impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6 at position 51830954: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCGCTCATCAATCACAGATCATTTTTTGGAGATAGAAGAGGGGTTATTAGACAACAGGAGAGGGACAATGAGCAAGGATTTTATTTTTTATATATTACACACCTGTTTTTCACTCACCTGTCTTTTCATGTGAAGGCTAGAAATAATGAAAAATAACTGTGTATGTTTTAAAATTCTTAACTTTTCTGATTATCACAATAACACTGAAAGGCCAACTGGAAAGTCCTTTCTACATCCAATGCCTGTGCCCCACCTCCTTTCCCCCACCCAGCATTGATTTGTGCTATTTAAGAGCAGCTTCACGGAGAATTCAGGCCCAT... | TCGCTCATCAATCACAGATCATTTTTTGGAGATAGAAGAGGGGTTATTAGACAACAGGAGAGGGACAATGAGCAAGGATTTTATTTTTTATATATTACACACCTGTTTTTCACTCACCTGTCTTTTCATGTGAAGGCTAGAAATAATGAAAAATAACTGTGTATGTTTTAAAATTCTTAACTTTTCTGATTATCACAATAACACTGAAAGGCCAACTGGAAAGTCCTTTCTACATCCAATGCCTGTGCCCCACCTCCTTTCCCCCACCCAGCATTGATTTGTGCTATTTAAGAGCAGCTTCACGGAGAATTCAGGCCCAT... | pathogenic | 108,838 |
Gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant at chromosome 6, position 51830972—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCATTTTTTGGAGATAGAAGAGGGGTTATTAGACAACAGGAGAGGGACAATGAGCAAGGATTTTATTTTTTATATATTACACACCTGTTTTTCACTCACCTGTCTTTTCATGTGAAGGCTAGAAATAATGAAAAATAACTGTGTATGTTTTAAAATTCTTAACTTTTCTGATTATCACAATAACACTGAAAGGCCAACTGGAAAGTCCTTTCTACATCCAATGCCTGTGCCCCACCTCCTTTCCCCCACCCAGCATTGATTTGTGCTATTTAAGAGCAGCTTCACGGAGAATTCAGGCCCATCCTATGATCTTATGAGCT... | TCATTTTTTGGAGATAGAAGAGGGGTTATTAGACAACAGGAGAGGGACAATGAGCAAGGATTTTATTTTTTATATATTACACACCTGTTTTTCACTCACCTGTCTTTTCATGTGAAGGCTAGAAATAATGAAAAATAACTGTGTATGTTTTAAAATTCTTAACTTTTCTGATTATCACAATAACACTGAAAGGCCAACTGGAAAGTCCTTTCTACATCCAATGCCTGTGCCCCACCTCCTTTCCCCCACCCAGCATTGATTTGTGCTATTTAAGAGCAGCTTCACGGAGAATTCAGGCCCATCCTATGATCTTATGAGCT... | pathogenic | 108,841 |
Does the variant on chromosome 6 at location 51836425 affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TGATCTGGATGTTCTTATATGACCATGGACAATATGTGCACTTAGTACGGGTACATATTACATACTCATATCGGTTAACACATAGATAGATGGTTAACTCATTCAAACATTGGATTGACCCATTCAAACAATGGAATGAATGAGTTAACACAGATAGATGTGTTAACTCATTCATTCATTCATTCTTAGTTTTGGCAAAAACGATATTGCAATAATTTTACTGTTTTACGTAGAGCTACTCATTAAACAAAATACATTACCATATTTAAATTTTGGCACTAGCACAGATACTACATACATGAGAATCAGGCAATGTCTTG... | TGATCTGGATGTTCTTATATGACCATGGACAATATGTGCACTTAGTACGGGTACATATTACATACTCATATCGGTTAACACATAGATAGATGGTTAACTCATTCAAACATTGGATTGACCCATTCAAACAATGGAATGAATGAGTTAACACAGATAGATGTGTTAACTCATTCATTCATTCATTCTTAGTTTTGGCAAAAACGATATTGCAATAATTTTACTGTTTTACGTAGAGCTACTCATTAAACAAAATACATTACCATATTTAAATTTTGGCACTAGCACAGATACTACATACATGAGAATCAGGCAATGTCTTG... | pathogenic | 108,848 |
Considering the genetic mutation at chromosome 6, position 51836462, impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GCACTTAGTACGGGTACATATTACATACTCATATCGGTTAACACATAGATAGATGGTTAACTCATTCAAACATTGGATTGACCCATTCAAACAATGGAATGAATGAGTTAACACAGATAGATGTGTTAACTCATTCATTCATTCATTCTTAGTTTTGGCAAAAACGATATTGCAATAATTTTACTGTTTTACGTAGAGCTACTCATTAAACAAAATACATTACCATATTTAAATTTTGGCACTAGCACAGATACTACATACATGAGAATCAGGCAATGTCTTGAAAGTATGTTATTTAAAATTTCCTCCTGATGAAGGAT... | GCACTTAGTACGGGTACATATTACATACTCATATCGGTTAACACATAGATAGATGGTTAACTCATTCAAACATTGGATTGACCCATTCAAACAATGGAATGAATGAGTTAACACAGATAGATGTGTTAACTCATTCATTCATTCATTCTTAGTTTTGGCAAAAACGATATTGCAATAATTTTACTGTTTTACGTAGAGCTACTCATTAAACAAAATACATTACCATATTTAAATTTTGGCACTAGCACAGATACTACATACATGAGAATCAGGCAATGTCTTGAAAGTATGTTATTTAAAATTTCCTCCTGATGAAGGAT... | pathogenic | 108,850 |
Variant in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), chromosome 6, position 51847904—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AGTTTATTTGAGTATTCAGATTATTTTGCAGTTCATGAACAGAATATGACCTATGGACAAGACAGCCTCTTCAGAAGCAGGCTAAGTAATGGAAAGAGAGCAATTCAGATTAAAATTTTGTTCCAGAATACATATCAAGTGAATAGCCATAAAGTTAATGGTAACTATTTACTCTTATTTATGGCTGTATTCGGCTGAAGTGGTAAAACAATCTCAGGAATCTCTGTCCGTCTCAAGTTTTTATAGTTTTAGGTTACATTTATGAATGGATCAAATCAGAAATAAAATTTGAATGGTATAATTCAGTGCAAATAAAATAT... | AGTTTATTTGAGTATTCAGATTATTTTGCAGTTCATGAACAGAATATGACCTATGGACAAGACAGCCTCTTCAGAAGCAGGCTAAGTAATGGAAAGAGAGCAATTCAGATTAAAATTTTGTTCCAGAATACATATCAAGTGAATAGCCATAAAGTTAATGGTAACTATTTACTCTTATTTATGGCTGTATTCGGCTGAAGTGGTAAAACAATCTCAGGAATCTCTGTCCGTCTCAAGTTTTTATAGTTTTAGGTTACATTTATGAATGGATCAAATCAGAAATAAAATTTGAATGGTATAATTCAGTGCAAATAAAATAT... | pathogenic | 108,856 |
Mutation found at chromosome 6 position 51855936, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TTATTACCCATCTTCTGAAGCCTACGTCTCTCAATTCATCCATTTGATCCTCCATCCAGTTCTGTGCCCTTGATGGAGAAATGTTGTGATCATTTGGAGGAGAAGAGGCACTCTGGCCTTTTTGGTTTTCAGCATTTTCTCGTTGATTCTTTTTCATCCTTTTGAGCTTGTCTAGTTTTGGTCTTTGAGGCTGTTGACCCTTGGATAGGATTTTTGTGGGGGCCTTTTTGTTGTTTTTGTTGTTGTTGATGCTGTTGTTGTCGCTTTCTGCTTGTTTGTTTTTCTTTCGGGTCCCTCTTCTGTTGGGCTGCTGCAGTTTG... | TTATTACCCATCTTCTGAAGCCTACGTCTCTCAATTCATCCATTTGATCCTCCATCCAGTTCTGTGCCCTTGATGGAGAAATGTTGTGATCATTTGGAGGAGAAGAGGCACTCTGGCCTTTTTGGTTTTCAGCATTTTCTCGTTGATTCTTTTTCATCCTTTTGAGCTTGTCTAGTTTTGGTCTTTGAGGCTGTTGACCCTTGGATAGGATTTTTGTGGGGGCCTTTTTGTTGTTTTTGTTGTTGTTGATGCTGTTGTTGTCGCTTTCTGCTTGTTTGTTTTTCTTTCGGGTCCCTCTTCTGTTGGGCTGCTGCAGTTTG... | pathogenic | 108,865 |
A genetic alteration at chromosome 6, position 51856042, in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Polycystic_kidney_disease_4'] | GGCACTCTGGCCTTTTTGGTTTTCAGCATTTTCTCGTTGATTCTTTTTCATCCTTTTGAGCTTGTCTAGTTTTGGTCTTTGAGGCTGTTGACCCTTGGATAGGATTTTTGTGGGGGCCTTTTTGTTGTTTTTGTTGTTGTTGATGCTGTTGTTGTCGCTTTCTGCTTGTTTGTTTTTCTTTCGGGTCCCTCTTCTGTTGGGCTGCTGCAGTTTGCTGGGGGTTCACTTCAGGCCCTATTCATCTGATTTGCTCCCATGCCTGGAGATGTCACTCAAGGAGACAGGAGTGCAGCAAAGATGGGTGTCTGTTCCTTCTGGGA... | GGCACTCTGGCCTTTTTGGTTTTCAGCATTTTCTCGTTGATTCTTTTTCATCCTTTTGAGCTTGTCTAGTTTTGGTCTTTGAGGCTGTTGACCCTTGGATAGGATTTTTGTGGGGGCCTTTTTGTTGTTTTTGTTGTTGTTGATGCTGTTGTTGTCGCTTTCTGCTTGTTTGTTTTTCTTTCGGGTCCCTCTTCTGTTGGGCTGCTGCAGTTTGCTGGGGGTTCACTTCAGGCCCTATTCATCTGATTTGCTCCCATGCCTGGAGATGTCACTCAAGGAGACAGGAGTGCAGCAAAGATGGGTGTCTGTTCCTTCTGGGA... | pathogenic | 108,867 |
Evaluate this variant at chromosome 6, position 51856089, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCATCCTTTTGAGCTTGTCTAGTTTTGGTCTTTGAGGCTGTTGACCCTTGGATAGGATTTTTGTGGGGGCCTTTTTGTTGTTTTTGTTGTTGTTGATGCTGTTGTTGTCGCTTTCTGCTTGTTTGTTTTTCTTTCGGGTCCCTCTTCTGTTGGGCTGCTGCAGTTTGCTGGGGGTTCACTTCAGGCCCTATTCATCTGATTTGCTCCCATGCCTGGAGATGTCACTCAAGGAGACAGGAGTGCAGCAAAGATGGGTGTCTGTTCCTTCTGGGACCTCTGACCTCGAGGGGCACCAACCTGATGCCAGTAGGATCGCTCCT... | TCATCCTTTTGAGCTTGTCTAGTTTTGGTCTTTGAGGCTGTTGACCCTTGGATAGGATTTTTGTGGGGGCCTTTTTGTTGTTTTTGTTGTTGTTGATGCTGTTGTTGTCGCTTTCTGCTTGTTTGTTTTTCTTTCGGGTCCCTCTTCTGTTGGGCTGCTGCAGTTTGCTGGGGGTTCACTTCAGGCCCTATTCATCTGATTTGCTCCCATGCCTGGAGATGTCACTCAAGGAGACAGGAGTGCAGCAAAGATGGGTGTCTGTTCCTTCTGGGACCTCTGACCTCGAGGGGCACCAACCTGATGCCAGTAGGATCGCTCCT... | benign | 108,869 |
Is the genetic mutation found on chromosome 6 at position 51856089, within the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCATCCTTTTGAGCTTGTCTAGTTTTGGTCTTTGAGGCTGTTGACCCTTGGATAGGATTTTTGTGGGGGCCTTTTTGTTGTTTTTGTTGTTGTTGATGCTGTTGTTGTCGCTTTCTGCTTGTTTGTTTTTCTTTCGGGTCCCTCTTCTGTTGGGCTGCTGCAGTTTGCTGGGGGTTCACTTCAGGCCCTATTCATCTGATTTGCTCCCATGCCTGGAGATGTCACTCAAGGAGACAGGAGTGCAGCAAAGATGGGTGTCTGTTCCTTCTGGGACCTCTGACCTCGAGGGGCACCAACCTGATGCCAGTAGGATCGCTCCT... | TCATCCTTTTGAGCTTGTCTAGTTTTGGTCTTTGAGGCTGTTGACCCTTGGATAGGATTTTTGTGGGGGCCTTTTTGTTGTTTTTGTTGTTGTTGATGCTGTTGTTGTCGCTTTCTGCTTGTTTGTTTTTCTTTCGGGTCCCTCTTCTGTTGGGCTGCTGCAGTTTGCTGGGGGTTCACTTCAGGCCCTATTCATCTGATTTGCTCCCATGCCTGGAGATGTCACTCAAGGAGACAGGAGTGCAGCAAAGATGGGTGTCTGTTCCTTCTGGGACCTCTGACCTCGAGGGGCACCAACCTGATGCCAGTAGGATCGCTCCT... | benign | 108,870 |
Benign or pathogenic: chromosome 6, position 51867876, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease_4'] | GCTCATTAGCTCTGACATGTTCCTAATGAGGTTATAATGCTTTGGGACAAAGATCAAGCCACTGAGCACAAATAGCTAGGGATAGAATCATAGAAAGATAAAATTAGAAGGACCTTAGAGGAGTGCCTCTCAGACTTTAATACCAATCACCTGGGCATTGTAATTCAGGACATCTGGGGCCCAGTCTGAGAGTCTGCATTTCTAAAAAAAATCCCTGGTGCTGCTGCTGCTGCTGGTCCATGGACAACATTTTGAGCAGCAAGACCTTAGAGATCATCTAATTCAGTTGCCTCTCCTAGAGGTGAGCACATCAGGGCCAA... | GCTCATTAGCTCTGACATGTTCCTAATGAGGTTATAATGCTTTGGGACAAAGATCAAGCCACTGAGCACAAATAGCTAGGGATAGAATCATAGAAAGATAAAATTAGAAGGACCTTAGAGGAGTGCCTCTCAGACTTTAATACCAATCACCTGGGCATTGTAATTCAGGACATCTGGGGCCCAGTCTGAGAGTCTGCATTTCTAAAAAAAATCCCTGGTGCTGCTGCTGCTGCTGGTCCATGGACAACATTTTGAGCAGCAAGACCTTAGAGATCATCTAATTCAGTTGCCTCTCCTAGAGGTGAGCACATCAGGGCCAA... | pathogenic | 108,874 |
Gene mutation in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) at chromosome 6, position 51867882—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TAGCTCTGACATGTTCCTAATGAGGTTATAATGCTTTGGGACAAAGATCAAGCCACTGAGCACAAATAGCTAGGGATAGAATCATAGAAAGATAAAATTAGAAGGACCTTAGAGGAGTGCCTCTCAGACTTTAATACCAATCACCTGGGCATTGTAATTCAGGACATCTGGGGCCCAGTCTGAGAGTCTGCATTTCTAAAAAAAATCCCTGGTGCTGCTGCTGCTGCTGGTCCATGGACAACATTTTGAGCAGCAAGACCTTAGAGATCATCTAATTCAGTTGCCTCTCCTAGAGGTGAGCACATCAGGGCCAAGAGATT... | TAGCTCTGACATGTTCCTAATGAGGTTATAATGCTTTGGGACAAAGATCAAGCCACTGAGCACAAATAGCTAGGGATAGAATCATAGAAAGATAAAATTAGAAGGACCTTAGAGGAGTGCCTCTCAGACTTTAATACCAATCACCTGGGCATTGTAATTCAGGACATCTGGGGCCCAGTCTGAGAGTCTGCATTTCTAAAAAAAATCCCTGGTGCTGCTGCTGCTGCTGGTCCATGGACAACATTTTGAGCAGCAAGACCTTAGAGATCATCTAATTCAGTTGCCTCTCCTAGAGGTGAGCACATCAGGGCCAAGAGATT... | pathogenic | 108,875 |
The genetic variant at chromosome 6, position 51867959, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AGAATCATAGAAAGATAAAATTAGAAGGACCTTAGAGGAGTGCCTCTCAGACTTTAATACCAATCACCTGGGCATTGTAATTCAGGACATCTGGGGCCCAGTCTGAGAGTCTGCATTTCTAAAAAAAATCCCTGGTGCTGCTGCTGCTGCTGGTCCATGGACAACATTTTGAGCAGCAAGACCTTAGAGATCATCTAATTCAGTTGCCTCTCCTAGAGGTGAGCACATCAGGGCCAAGAGATTTATAACTGGAAGCACGCTGAGACTTCCAGGTGACTAATTAGGGTCAGTTGAGTATTTGTCCATAGACCTGTGAGTCA... | AGAATCATAGAAAGATAAAATTAGAAGGACCTTAGAGGAGTGCCTCTCAGACTTTAATACCAATCACCTGGGCATTGTAATTCAGGACATCTGGGGCCCAGTCTGAGAGTCTGCATTTCTAAAAAAAATCCCTGGTGCTGCTGCTGCTGCTGGTCCATGGACAACATTTTGAGCAGCAAGACCTTAGAGATCATCTAATTCAGTTGCCTCTCCTAGAGGTGAGCACATCAGGGCCAAGAGATTTATAACTGGAAGCACGCTGAGACTTCCAGGTGACTAATTAGGGTCAGTTGAGTATTTGTCCATAGACCTGTGAGTCA... | pathogenic | 108,877 |
Does the genetic variant at chromosome 6, position 51868035, impacting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GTAATTCAGGACATCTGGGGCCCAGTCTGAGAGTCTGCATTTCTAAAAAAAATCCCTGGTGCTGCTGCTGCTGCTGGTCCATGGACAACATTTTGAGCAGCAAGACCTTAGAGATCATCTAATTCAGTTGCCTCTCCTAGAGGTGAGCACATCAGGGCCAAGAGATTTATAACTGGAAGCACGCTGAGACTTCCAGGTGACTAATTAGGGTCAGTTGAGTATTTGTCCATAGACCTGTGAGTCAACCTGAAAATTTTAAATAGAATCTAAGGAGTAGAGTGACCAATCAGCCTAGATGACTGAGGAAGTTTCCAGAACAT... | GTAATTCAGGACATCTGGGGCCCAGTCTGAGAGTCTGCATTTCTAAAAAAAATCCCTGGTGCTGCTGCTGCTGCTGGTCCATGGACAACATTTTGAGCAGCAAGACCTTAGAGATCATCTAATTCAGTTGCCTCTCCTAGAGGTGAGCACATCAGGGCCAAGAGATTTATAACTGGAAGCACGCTGAGACTTCCAGGTGACTAATTAGGGTCAGTTGAGTATTTGTCCATAGACCTGTGAGTCAACCTGAAAATTTTAAATAGAATCTAAGGAGTAGAGTGACCAATCAGCCTAGATGACTGAGGAAGTTTCCAGAACAT... | pathogenic | 108,880 |
Variant chromosome 6, position 51870653, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease(s)? | benign | AGCAGAAAACATTAATTTATTAATTACTAAGCACCAAAGATGCTATGGTTTAGTCTTCCAATCTTTCAGCTTTCATTCCTCTGTGGTGAGTCTAACCCCTCCAATACCTCTTACTATAAGGTTTATTTAAACATTTACTTTCAAAAGCAAACTCAATTAATCACTTGGGCAAATAGTATTAGTAATACACTTTCTAAGTATTAGCTGTAGGGCCACACTTCTTGGCAGTCTTTCCCCAACACCACTGCCATGTGACTCATTGGTACTATCAGTCCAATTGCCTAAAAGGAAAGTATGGCAGTGATCTTCTAATTCACACA... | AGCAGAAAACATTAATTTATTAATTACTAAGCACCAAAGATGCTATGGTTTAGTCTTCCAATCTTTCAGCTTTCATTCCTCTGTGGTGAGTCTAACCCCTCCAATACCTCTTACTATAAGGTTTATTTAAACATTTACTTTCAAAAGCAAACTCAATTAATCACTTGGGCAAATAGTATTAGTAATACACTTTCTAAGTATTAGCTGTAGGGCCACACTTCTTGGCAGTCTTTCCCCAACACCACTGCCATGTGACTCATTGGTACTATCAGTCCAATTGCCTAAAAGGAAAGTATGGCAGTGATCTTCTAATTCACACA... | benign | 108,889 |
Variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), located at chromosome 6 position 51885886: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GTAGGTTATGAATGGATTAGTGCTGATTACAAAAAAAACTTGGGGCTGTGAGTTCTATCACTTGCTCCTTCTTTGACTTCTTTGCCCTTCTGCTATAGACTGATGCAGCAAGAAGGTCCTCAGAAGATGCTGGCCTCTCAATCTTGGACTTCCAAGCCTCCAGAATCATGAGCTAATAAATTTCTGTTTATTATAATTTTCCCAAATTTTATTATTCTGTTATAGCAGCACAAAAGGGACTAAGACACCACTGGTCTGGGAGACAGAGTTGTGCTTATGTTTACGTCTTTGACCAATTTTTTGCTAATTTTATTTATTAT... | GTAGGTTATGAATGGATTAGTGCTGATTACAAAAAAAACTTGGGGCTGTGAGTTCTATCACTTGCTCCTTCTTTGACTTCTTTGCCCTTCTGCTATAGACTGATGCAGCAAGAAGGTCCTCAGAAGATGCTGGCCTCTCAATCTTGGACTTCCAAGCCTCCAGAATCATGAGCTAATAAATTTCTGTTTATTATAATTTTCCCAAATTTTATTATTCTGTTATAGCAGCACAAAAGGGACTAAGACACCACTGGTCTGGGAGACAGAGTTGTGCTTATGTTTACGTCTTTGACCAATTTTTTGCTAATTTTATTTATTAT... | pathogenic | 108,897 |
Does the genetic variant at chromosome 6, position 51885959, impacting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TGACTTCTTTGCCCTTCTGCTATAGACTGATGCAGCAAGAAGGTCCTCAGAAGATGCTGGCCTCTCAATCTTGGACTTCCAAGCCTCCAGAATCATGAGCTAATAAATTTCTGTTTATTATAATTTTCCCAAATTTTATTATTCTGTTATAGCAGCACAAAAGGGACTAAGACACCACTGGTCTGGGAGACAGAGTTGTGCTTATGTTTACGTCTTTGACCAATTTTTTGCTAATTTTATTTATTATTAATACATAATGACTCATTTGAAGTTAATTTTTGTAAGTAGCATAAATTAAGGTAGGATACAACTTAATTCTT... | TGACTTCTTTGCCCTTCTGCTATAGACTGATGCAGCAAGAAGGTCCTCAGAAGATGCTGGCCTCTCAATCTTGGACTTCCAAGCCTCCAGAATCATGAGCTAATAAATTTCTGTTTATTATAATTTTCCCAAATTTTATTATTCTGTTATAGCAGCACAAAAGGGACTAAGACACCACTGGTCTGGGAGACAGAGTTGTGCTTATGTTTACGTCTTTGACCAATTTTTTGCTAATTTTATTTATTATTAATACATAATGACTCATTTGAAGTTAATTTTTGTAAGTAGCATAAATTAAGGTAGGATACAACTTAATTCTT... | pathogenic | 108,900 |
Regarding the variant at chromosome 6 and position 51887179, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GAGACAAAGTGTATGTAATTTTGTCTGTATTGCATCAAATAGTGACCCTGAATAATTTTTACATGTTGCTGTTAGCAGTGAGCATGCAAAGCTTCCTTATAAGAAAATCATTGGGATAATGAAGAGTAAATGATTGAACATGAACCTTTTCTTTTCCTTTAAGAAAAAAATAGAAGAAAATTTAGCTTATTTCTTCTAAAGTAAGAGTGGTATCTTGAGCTAGAATGTTTGTGTATCAATGACGAACAGTGCTTTTTCTTAAGACTGGGGCATGTATTATTCAGGATATCGGGACATCAAATGCACAACATTTGGAGTCT... | GAGACAAAGTGTATGTAATTTTGTCTGTATTGCATCAAATAGTGACCCTGAATAATTTTTACATGTTGCTGTTAGCAGTGAGCATGCAAAGCTTCCTTATAAGAAAATCATTGGGATAATGAAGAGTAAATGATTGAACATGAACCTTTTCTTTTCCTTTAAGAAAAAAATAGAAGAAAATTTAGCTTATTTCTTCTAAAGTAAGAGTGGTATCTTGAGCTAGAATGTTTGTGTATCAATGACGAACAGTGCTTTTTCTTAAGACTGGGGCATGTATTATTCAGGATATCGGGACATCAAATGCACAACATTTGGAGTCT... | pathogenic | 108,904 |
Mutation found at chromosome 6 position 51887235, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TTTTACATGTTGCTGTTAGCAGTGAGCATGCAAAGCTTCCTTATAAGAAAATCATTGGGATAATGAAGAGTAAATGATTGAACATGAACCTTTTCTTTTCCTTTAAGAAAAAAATAGAAGAAAATTTAGCTTATTTCTTCTAAAGTAAGAGTGGTATCTTGAGCTAGAATGTTTGTGTATCAATGACGAACAGTGCTTTTTCTTAAGACTGGGGCATGTATTATTCAGGATATCGGGACATCAAATGCACAACATTTGGAGTCTAAATTCTGCACTTGGTTGTACTACTAACCAATTGTGTGATCTTTGACAAGTCCCTT... | TTTTACATGTTGCTGTTAGCAGTGAGCATGCAAAGCTTCCTTATAAGAAAATCATTGGGATAATGAAGAGTAAATGATTGAACATGAACCTTTTCTTTTCCTTTAAGAAAAAAATAGAAGAAAATTTAGCTTATTTCTTCTAAAGTAAGAGTGGTATCTTGAGCTAGAATGTTTGTGTATCAATGACGAACAGTGCTTTTTCTTAAGACTGGGGCATGTATTATTCAGGATATCGGGACATCAAATGCACAACATTTGGAGTCTAAATTCTGCACTTGGTTGTACTACTAACCAATTGTGTGATCTTTGACAAGTCCCTT... | pathogenic | 108,905 |
Regarding the variant at chromosome 6 and position 51903726, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | GAAAAAAAAACTTAAAAAAAAAAAAAAAGAACTTTAAGGTCACCAAGGATAAATATGTCAGGAATATACCTAATGAATCTACATTACCAGTTTAACCTAAAACTCCATTCTCAAAACATATGCATTGTATTTTTTTTCTAATTTTGTAAAGCAGATACAAGAGTAAGAAAGTAAATGAAGGGAAATGGAAAGCGTTGGAGGGAGAGCAAGCAGCTAGTTGCAGACTCAATTTTTCCATTGCTGACTGGGTATTATTCTACAGGTCATTTTGCAAAGGCTCACACCACCCACAGCTTTTCAGATTACCCTCTGGTTCTCTG... | GAAAAAAAAACTTAAAAAAAAAAAAAAAGAACTTTAAGGTCACCAAGGATAAATATGTCAGGAATATACCTAATGAATCTACATTACCAGTTTAACCTAAAACTCCATTCTCAAAACATATGCATTGTATTTTTTTTCTAATTTTGTAAAGCAGATACAAGAGTAAGAAAGTAAATGAAGGGAAATGGAAAGCGTTGGAGGGAGAGCAAGCAGCTAGTTGCAGACTCAATTTTTCCATTGCTGACTGGGTATTATTCTACAGGTCATTTTGCAAAGGCTCACACCACCCACAGCTTTTCAGATTACCCTCTGGTTCTCTG... | pathogenic | 108,912 |
Is the chromosome 6, position 51903728 variant in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | AAAAAAAACTTAAAAAAAAAAAAAAAGAACTTTAAGGTCACCAAGGATAAATATGTCAGGAATATACCTAATGAATCTACATTACCAGTTTAACCTAAAACTCCATTCTCAAAACATATGCATTGTATTTTTTTTCTAATTTTGTAAAGCAGATACAAGAGTAAGAAAGTAAATGAAGGGAAATGGAAAGCGTTGGAGGGAGAGCAAGCAGCTAGTTGCAGACTCAATTTTTCCATTGCTGACTGGGTATTATTCTACAGGTCATTTTGCAAAGGCTCACACCACCCACAGCTTTTCAGATTACCCTCTGGTTCTCTGCA... | AAAAAAAACTTAAAAAAAAAAAAAAAGAACTTTAAGGTCACCAAGGATAAATATGTCAGGAATATACCTAATGAATCTACATTACCAGTTTAACCTAAAACTCCATTCTCAAAACATATGCATTGTATTTTTTTTCTAATTTTGTAAAGCAGATACAAGAGTAAGAAAGTAAATGAAGGGAAATGGAAAGCGTTGGAGGGAGAGCAAGCAGCTAGTTGCAGACTCAATTTTTCCATTGCTGACTGGGTATTATTCTACAGGTCATTTTGCAAAGGCTCACACCACCCACAGCTTTTCAGATTACCCTCTGGTTCTCTGCA... | pathogenic | 108,913 |
Chromosome 6, position 51903989, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCATTTTGCAAAGGCTCACACCACCCACAGCTTTTCAGATTACCCTCTGGTTCTCTGCACCTGCAGCCAGCTCAACCCTTCTTCTTGTCAGCCAGTGGCCAGCACTCCGTCCAGCAGACCACATACTACCCAGTGAGACAAGGACATTCCAGCTTCACACAGCAGGGTGAGCTGGGCAACCCTGAGGGTTTACTTTCCTCCAGGCATTTGATGTAGTCAACATTATGCTACCCAGAAAAGTACACAAAAACATGGTTTCTTAAGCCCAAAAGCTTACAGACATAGAAAGGGCACATAGGAACTCTTTTATTTACGCAGCT... | TCATTTTGCAAAGGCTCACACCACCCACAGCTTTTCAGATTACCCTCTGGTTCTCTGCACCTGCAGCCAGCTCAACCCTTCTTCTTGTCAGCCAGTGGCCAGCACTCCGTCCAGCAGACCACATACTACCCAGTGAGACAAGGACATTCCAGCTTCACACAGCAGGGTGAGCTGGGCAACCCTGAGGGTTTACTTTCCTCCAGGCATTTGATGTAGTCAACATTATGCTACCCAGAAAAGTACACAAAAACATGGTTTCTTAAGCCCAAAAGCTTACAGACATAGAAAGGGCACATAGGAACTCTTTTATTTACGCAGCT... | pathogenic | 108,915 |
Evaluate the clinical significance of the mutation at chromosome 6, position 51911848 in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GAAATGTGCAATAAAATGACCTTCTTGTGGTTGATAATTGTAGGAAAGACATGTTAGCACTGAATATAATAACAGCACTTTTTAATCTTAAGCTGTCCAATGAGGTTTCCCCATTACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACT... | GAAATGTGCAATAAAATGACCTTCTTGTGGTTGATAATTGTAGGAAAGACATGTTAGCACTGAATATAATAACAGCACTTTTTAATCTTAAGCTGTCCAATGAGGTTTCCCCATTACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACT... | pathogenic | 108,927 |
Located at chromosome 6 position 51911898, the variant affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATGTTAGCACTGAATATAATAACAGCACTTTTTAATCTTAAGCTGTCCAATGAGGTTTCCCCATTACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTA... | ATGTTAGCACTGAATATAATAACAGCACTTTTTAATCTTAAGCTGTCCAATGAGGTTTCCCCATTACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTA... | pathogenic | 108,928 |
Does the genetic variant at chromosome 6, position 51911905, impacting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CACTGAATATAATAACAGCACTTTTTAATCTTAAGCTGTCCAATGAGGTTTCCCCATTACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTACTATTGC... | CACTGAATATAATAACAGCACTTTTTAATCTTAAGCTGTCCAATGAGGTTTCCCCATTACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTACTATTGC... | pathogenic | 108,929 |
The mutation impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6 at position 51911924: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ACTTTTTAATCTTAAGCTGTCCAATGAGGTTTCCCCATTACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTACTATTGCTACCAAAATGTTGTGACCT... | ACTTTTTAATCTTAAGCTGTCCAATGAGGTTTCCCCATTACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTACTATTGCTACCAAAATGTTGTGACCT... | pathogenic | 108,931 |
Is the genetic change at chromosome 6, position 51911962, within gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTACTATTGCTACCAAAATGTTGTGACCTCAGGATCCAGGGCACCTTCTGTTGATACATGGCATTTG... | TACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTACTATTGCTACCAAAATGTTGTGACCTCAGGATCCAGGGCACCTTCTGTTGATACATGGCATTTG... | benign | 108,932 |
Gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant at chromosome 6, position 51911962—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTACTATTGCTACCAAAATGTTGTGACCTCAGGATCCAGGGCACCTTCTGTTGATACATGGCATTTG... | TACTGTGCTGTTTTATGGTTTGGGGACTTAGCAATAACGCTACCACAGAAATGTCAAAGGACTCCAGAGAAGCAACTGAGCAGCTCCTGCACCAACACCTACTTCCCCAGCTGTGCCACTAATGAGGACAGCAGCAACCTGAGCCTAACACACACAACTACAAATGCCAGTGAGGACAGCAACCACCTGAACTAACACACACAACTATGAATGCCAGGGAGGGCAGCAAACCACCTGGACCTAACACACACAACTACTATTGCTACCAAAATGTTGTGACCTCAGGATCCAGGGCACCTTCTGTTGATACATGGCATTTG... | benign | 108,933 |
Evaluate if the mutation on chromosome 6 at position 51912400 in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCAGAATCCAATCATTTGCTATTACCCAGAGAAGAGGTGAATGAAGAGATATTTATATTTGTATGCCTTATCACAATTTGATTATTTGTGCCACTGATCCATAAGATTTTCAAATGGACAGGCCTTGTGTTATTAAATTCAGCTACCTTGTTCCACACTCCAGCCCCACACAGAAAAGAAATGACTTATTTTGAGAATATTGTAGTTGTATTTACGATTTGTGATGCAATCAAGGATGTTTTCCATTTGGGGCTAACAGATTTATAATGGCTTAAACCTAGAAGCATGATCTCACTGGCAGCATGATCAAATGCAATATT... | TCAGAATCCAATCATTTGCTATTACCCAGAGAAGAGGTGAATGAAGAGATATTTATATTTGTATGCCTTATCACAATTTGATTATTTGTGCCACTGATCCATAAGATTTTCAAATGGACAGGCCTTGTGTTATTAAATTCAGCTACCTTGTTCCACACTCCAGCCCCACACAGAAAAGAAATGACTTATTTTGAGAATATTGTAGTTGTATTTACGATTTGTGATGCAATCAAGGATGTTTTCCATTTGGGGCTAACAGATTTATAATGGCTTAAACCTAGAAGCATGATCTCACTGGCAGCATGATCAAATGCAATATT... | pathogenic | 108,936 |
Benign or pathogenic: chromosome 6, position 51934126, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATGGCTGAAGTAGCAACATTTTTTCTGAACTTTCAGAATTTTCAAACCATATTAGAGGCATATACTTTGCTTGAATTGCCCCATATTGACTGTAAGCAATGGGACTAGGGATTTTCTTGACATTTGCTTAACCACAAAGGCTTACATGCACAACGTACATTTAAAATACAGGCACAAAAGGTATATTTATGAGTTCTTTCTTTGATTCTTCACAATAGAGCATGATAATTAGATGAGCTTGGAATGAAAGAGGCAGAAGAAAATAATTAGGAGAGTTTTCATTTTTCCTCATTTGAATTCCTATTTTCAGGAAGAGCTGT... | ATGGCTGAAGTAGCAACATTTTTTCTGAACTTTCAGAATTTTCAAACCATATTAGAGGCATATACTTTGCTTGAATTGCCCCATATTGACTGTAAGCAATGGGACTAGGGATTTTCTTGACATTTGCTTAACCACAAAGGCTTACATGCACAACGTACATTTAAAATACAGGCACAAAAGGTATATTTATGAGTTCTTTCTTTGATTCTTCACAATAGAGCATGATAATTAGATGAGCTTGGAATGAAAGAGGCAGAAGAAAATAATTAGGAGAGTTTTCATTTTTCCTCATTTGAATTCCTATTTTCAGGAAGAGCTGT... | pathogenic | 108,941 |
Is the genetic mutation found on chromosome 6 at position 51934139, within the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CAACATTTTTTCTGAACTTTCAGAATTTTCAAACCATATTAGAGGCATATACTTTGCTTGAATTGCCCCATATTGACTGTAAGCAATGGGACTAGGGATTTTCTTGACATTTGCTTAACCACAAAGGCTTACATGCACAACGTACATTTAAAATACAGGCACAAAAGGTATATTTATGAGTTCTTTCTTTGATTCTTCACAATAGAGCATGATAATTAGATGAGCTTGGAATGAAAGAGGCAGAAGAAAATAATTAGGAGAGTTTTCATTTTTCCTCATTTGAATTCCTATTTTCAGGAAGAGCTGTGCTATCTGCATCA... | CAACATTTTTTCTGAACTTTCAGAATTTTCAAACCATATTAGAGGCATATACTTTGCTTGAATTGCCCCATATTGACTGTAAGCAATGGGACTAGGGATTTTCTTGACATTTGCTTAACCACAAAGGCTTACATGCACAACGTACATTTAAAATACAGGCACAAAAGGTATATTTATGAGTTCTTTCTTTGATTCTTCACAATAGAGCATGATAATTAGATGAGCTTGGAATGAAAGAGGCAGAAGAAAATAATTAGGAGAGTTTTCATTTTTCCTCATTTGAATTCCTATTTTCAGGAAGAGCTGTGCTATCTGCATCA... | pathogenic | 108,942 |
Determine whether the variant at chromosome 6, position 51934323, in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | TTCTTTGATTCTTCACAATAGAGCATGATAATTAGATGAGCTTGGAATGAAAGAGGCAGAAGAAAATAATTAGGAGAGTTTTCATTTTTCCTCATTTGAATTCCTATTTTCAGGAAGAGCTGTGCTATCTGCATCATACAGGACAGTGGCTCTCAAATCTGAGGATTCCTCCTAAGCCTGGGGTCCTCTGGACGATCTATGGGCTGGCTGAACCACAAATATACACCAACTTATTCCCCAGATGCACTTTTTTACTGGTAAAAAGCAACATATTGGGTTAGTGGCTTAAGAGGCCATTGAGCTAGAGCAAACATTTGAAA... | TTCTTTGATTCTTCACAATAGAGCATGATAATTAGATGAGCTTGGAATGAAAGAGGCAGAAGAAAATAATTAGGAGAGTTTTCATTTTTCCTCATTTGAATTCCTATTTTCAGGAAGAGCTGTGCTATCTGCATCATACAGGACAGTGGCTCTCAAATCTGAGGATTCCTCCTAAGCCTGGGGTCCTCTGGACGATCTATGGGCTGGCTGAACCACAAATATACACCAACTTATTCCCCAGATGCACTTTTTTACTGGTAAAAAGCAACATATTGGGTTAGTGGCTTAAGAGGCCATTGAGCTAGAGCAAACATTTGAAA... | pathogenic | 108,947 |
Variant at chromosome position 51959882, chromosome 6, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | TGACACCAAGATTACCCCAGTATACATTCGGCCTCACTGCCAGCATCACTTATTTTAGAACCAGAAGTTTTAGTCTTTTACATTTACTTTCTAATTATTTTTCTTTGGTAATATTACATGTTACTGCCAGTATTATTCTTCATTTTTTCTTGTATTTCACACAGGAATCCTAGGCCACTCAATAAGCATTCACAAATTATCTGTTGAACAAAATTTGATCTGTGTCCTTGCCCTGTTCTCATTCTTTCTAGAAGTTATGACCTATATCTCTATGATAAAAACCTCAGCGTTTCACTCTAGGTAGCTCTGTCTTTTGCCAA... | TGACACCAAGATTACCCCAGTATACATTCGGCCTCACTGCCAGCATCACTTATTTTAGAACCAGAAGTTTTAGTCTTTTACATTTACTTTCTAATTATTTTTCTTTGGTAATATTACATGTTACTGCCAGTATTATTCTTCATTTTTTCTTGTATTTCACACAGGAATCCTAGGCCACTCAATAAGCATTCACAAATTATCTGTTGAACAAAATTTGATCTGTGTCCTTGCCCTGTTCTCATTCTTTCTAGAAGTTATGACCTATATCTCTATGATAAAAACCTCAGCGTTTCACTCTAGGTAGCTCTGTCTTTTGCCAA... | pathogenic | 108,951 |
Considering the variant on chromosome 6, location 51959897, involving gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CCCAGTATACATTCGGCCTCACTGCCAGCATCACTTATTTTAGAACCAGAAGTTTTAGTCTTTTACATTTACTTTCTAATTATTTTTCTTTGGTAATATTACATGTTACTGCCAGTATTATTCTTCATTTTTTCTTGTATTTCACACAGGAATCCTAGGCCACTCAATAAGCATTCACAAATTATCTGTTGAACAAAATTTGATCTGTGTCCTTGCCCTGTTCTCATTCTTTCTAGAAGTTATGACCTATATCTCTATGATAAAAACCTCAGCGTTTCACTCTAGGTAGCTCTGTCTTTTGCCAACAACTCCTGTATCTT... | CCCAGTATACATTCGGCCTCACTGCCAGCATCACTTATTTTAGAACCAGAAGTTTTAGTCTTTTACATTTACTTTCTAATTATTTTTCTTTGGTAATATTACATGTTACTGCCAGTATTATTCTTCATTTTTTCTTGTATTTCACACAGGAATCCTAGGCCACTCAATAAGCATTCACAAATTATCTGTTGAACAAAATTTGATCTGTGTCCTTGCCCTGTTCTCATTCTTTCTAGAAGTTATGACCTATATCTCTATGATAAAAACCTCAGCGTTTCACTCTAGGTAGCTCTGTCTTTTGCCAACAACTCCTGTATCTT... | pathogenic | 108,952 |
Does the variant impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6, position 51959978, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATTTTTCTTTGGTAATATTACATGTTACTGCCAGTATTATTCTTCATTTTTTCTTGTATTTCACACAGGAATCCTAGGCCACTCAATAAGCATTCACAAATTATCTGTTGAACAAAATTTGATCTGTGTCCTTGCCCTGTTCTCATTCTTTCTAGAAGTTATGACCTATATCTCTATGATAAAAACCTCAGCGTTTCACTCTAGGTAGCTCTGTCTTTTGCCAACAACTCCTGTATCTTATTCGTGCAGAAACTGGAATCTACTACTTAGCCTTACATCCTACCTACTCCTCCTCCCCAAGAGAAAGAAGAGACCCTTCA... | ATTTTTCTTTGGTAATATTACATGTTACTGCCAGTATTATTCTTCATTTTTTCTTGTATTTCACACAGGAATCCTAGGCCACTCAATAAGCATTCACAAATTATCTGTTGAACAAAATTTGATCTGTGTCCTTGCCCTGTTCTCATTCTTTCTAGAAGTTATGACCTATATCTCTATGATAAAAACCTCAGCGTTTCACTCTAGGTAGCTCTGTCTTTTGCCAACAACTCCTGTATCTTATTCGTGCAGAAACTGGAATCTACTACTTAGCCTTACATCCTACCTACTCCTCCTCCCCAAGAGAAAGAAGAGACCCTTCA... | pathogenic | 108,956 |
Does the chromosome 6 mutation at position 51960012 within gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TATTATTCTTCATTTTTTCTTGTATTTCACACAGGAATCCTAGGCCACTCAATAAGCATTCACAAATTATCTGTTGAACAAAATTTGATCTGTGTCCTTGCCCTGTTCTCATTCTTTCTAGAAGTTATGACCTATATCTCTATGATAAAAACCTCAGCGTTTCACTCTAGGTAGCTCTGTCTTTTGCCAACAACTCCTGTATCTTATTCGTGCAGAAACTGGAATCTACTACTTAGCCTTACATCCTACCTACTCCTCCTCCCCAAGAGAAAGAAGAGACCCTTCAGATGACTTACTCTCCCTCTCCACAGGATGAGGGT... | TATTATTCTTCATTTTTTCTTGTATTTCACACAGGAATCCTAGGCCACTCAATAAGCATTCACAAATTATCTGTTGAACAAAATTTGATCTGTGTCCTTGCCCTGTTCTCATTCTTTCTAGAAGTTATGACCTATATCTCTATGATAAAAACCTCAGCGTTTCACTCTAGGTAGCTCTGTCTTTTGCCAACAACTCCTGTATCTTATTCGTGCAGAAACTGGAATCTACTACTTAGCCTTACATCCTACCTACTCCTCCTCCCCAAGAGAAAGAAGAGACCCTTCAGATGACTTACTCTCCCTCTCCACAGGATGAGGGT... | pathogenic | 108,959 |
Considering the variant on chromosome 6, location 52022854, involving gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | GTTGTACTCAATCCTGTCTGAAAATGGAGAAATTAGTAGTAGTTTCTAGTAATGTCTAAGACCTATCCCCTTTGACATTTGATGTCCATTATAGACCTACTTCCTAGGGAAAAAAAAAAAATACACAGTCATACACTCAAAATGCTTCATCCAGTTTCAGCGGGTTAACAGAATCCCCAAATCCCATCTTGGATCTTAAGTAAGAAACCTCTGGAGTTGGCTCTCACAATTTCCTCTCAATCTTTAGACATTGTGATTGAAAGTCTTTTAAAAGACTTTTTTATGAAAGGAAAATTAGTTAAATTATGCATTCCTCTAGA... | GTTGTACTCAATCCTGTCTGAAAATGGAGAAATTAGTAGTAGTTTCTAGTAATGTCTAAGACCTATCCCCTTTGACATTTGATGTCCATTATAGACCTACTTCCTAGGGAAAAAAAAAAAATACACAGTCATACACTCAAAATGCTTCATCCAGTTTCAGCGGGTTAACAGAATCCCCAAATCCCATCTTGGATCTTAAGTAAGAAACCTCTGGAGTTGGCTCTCACAATTTCCTCTCAATCTTTAGACATTGTGATTGAAAGTCTTTTAAAAGACTTTTTTATGAAAGGAAAATTAGTTAAATTATGCATTCCTCTAGA... | pathogenic | 108,977 |
Does the variant on chromosome 6 at location 52024539 affecting gene PKHD1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AACTAATATTCAGAATTCAGAATTACTTCCTCTGTCATCCTAAGACTGCAGTTAAGAACACAGGTGATAAGTGTTTCAATATTCATCTAACATTGACATATTAATATGACAAAAGTTATGATGAATCATTTTAACAGGTGGCCTCAGATTCTAACTATCATTTTAGATGAGGAGTAGAGAAATTCTTTTCCTAGGCACACATAGAGAAATTAGTAGTCAGTACAGCATTAATCACAAAAATAGAATTAACCAAAGAATATCATTTCCATATATATGCTTTAAAATATATGTGTGTGGCATCTTTACTCACCATCCAGGGG... | AACTAATATTCAGAATTCAGAATTACTTCCTCTGTCATCCTAAGACTGCAGTTAAGAACACAGGTGATAAGTGTTTCAATATTCATCTAACATTGACATATTAATATGACAAAAGTTATGATGAATCATTTTAACAGGTGGCCTCAGATTCTAACTATCATTTTAGATGAGGAGTAGAGAAATTCTTTTCCTAGGCACACATAGAGAAATTAGTAGTCAGTACAGCATTAATCACAAAAATAGAATTAACCAAAGAATATCATTTCCATATATATGCTTTAAAATATATGTGTGTGGCATCTTTACTCACCATCCAGGGG... | benign | 108,980 |
A mutation at chromosome position 52024877 on chromosome 6 in gene PKHD1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GGCAGACACTGTAGCATTAGCCAGGACTCGGCAGGGAGCACCACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATAT... | GGCAGACACTGTAGCATTAGCCAGGACTCGGCAGGGAGCACCACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATAT... | pathogenic | 108,991 |
Evaluate if the mutation on chromosome 6 at position 52024919 in PKHD1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTT... | ACACACAGCAGCTGAGACATTCCCTGGAGAAAATCCCGCTCCAAACACATGCACCAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTT... | pathogenic | 108,993 |
Is the variant located on chromosome 6 at position 52024973, gene PKHD1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCA... | CAGCCTTCCACCCAGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCA... | pathogenic | 108,998 |
Does the genetic variant at chromosome 6, position 52024986, impacting gene PKHD1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATA... | AGGCAGCCTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATA... | pathogenic | 108,999 |
Is the variant located on chromosome 6 at position 52024993, gene PKHD1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTC... | CTTTAAAGACAAAGGTACAAGTTCTTGATCATACAGGCAAATCTCCCTTCTTTACTCAACTCAAAATTCAAACATTTGCTTCCTCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTC... | pathogenic | 109,000 |
Mutation at chromosome 6, position 52025076, within PKHD1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | TCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGT... | TCACTACCCATTCTTCTTTTCACATCCTCAGAATCCGCACAACTGGCTTGAGGTGGCTGCTGGCCTCAGTTTCCTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGT... | pathogenic | 109,001 |
Does the variant on chromosome 6 at location 52025149 affecting gene PKHD1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATG... | CTCTCCACTTAGGCTCTGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATG... | pathogenic | 109,003 |
Clinical significance of chromosome 6, position 52025165, gene PKHD1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTA... | TGGCCTTGTCTGACTCCAATCACATTCAATATCCTATTGTGTTAAAGAGGTTTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTA... | pathogenic | 109,004 |
A mutation at chromosome position 52025216 on chromosome 6 in gene PKHD1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGC... | TTTTTTTTAATGTAACAATTTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGC... | pathogenic | 109,005 |
The chromosome 6, position 52025235 genetic variant in gene PKHD1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | TTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGCTACAATTTATTTGACAATT... | TTTTATATGGAAAATTAATGCTTATTTATAGTTTTTAAACTTTTTATTCAAAGAGCCATAAAATGAAAATAAAAATTCCCCCAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGCTACAATTTATTTGACAATT... | pathogenic | 109,006 |
The chromosome 6, position 52025316 genetic variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGCTACAATTTATTTGACAATTTTCCTATTTATTGAAATTTCCATTTTTTCTCCTCTTTTGCTATTGTTAATAGTGATGCAATAACTGTACATGTTTTGGGAC... | CAACCATCTGACTCCCTCCCCGGAGGTACCCAGGTATAGAGTTTCTTATGGCTCCTTCCAGAATTTTTAAGCATCTATGTTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGCTACAATTTATTTGACAATTTTCCTATTTATTGAAATTTCCATTTTTTCTCCTCTTTTGCTATTGTTAATAGTGATGCAATAACTGTACATGTTTTGGGAC... | pathogenic | 109,008 |
Evaluate if the mutation on chromosome 6 at position 52025395 in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGCTACAATTTATTTGACAATTTTCCTATTTATTGAAATTTCCATTTTTTCTCCTCTTTTGCTATTGTTAATAGTGATGCAATAACTGTACATGTTTTGGGACATTTGTATGAGTAAAACCAGTCCACATTTCTAGTTTACACTGAGATACAGAGTTCCCCTCACTACTGCCTTCATACCAG... | TTTCTGATTCAAAGCATTATTCTATCCATATTATTCTGGAACTTGCTTTTTTGCTTCAAAGTATAGCATAGATGTTTTTTCAAAACTCTATGGATCCAGTTCATTTTAGTAGCTACTTAGAATTCCATTATAGGGCCCTGCTACAATTTATTTGACAATTTTCCTATTTATTGAAATTTCCATTTTTTCTCCTCTTTTGCTATTGTTAATAGTGATGCAATAACTGTACATGTTTTGGGACATTTGTATGAGTAAAACCAGTCCACATTTCTAGTTTACACTGAGATACAGAGTTCCCCTCACTACTGCCTTCATACCAG... | pathogenic | 109,010 |
Evaluate the clinical significance of the mutation at chromosome 6, position 52025668 in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GTTTACACTGAGATACAGAGTTCCCCTCACTACTGCCTTCATACCAGGTCTAGGTGGTACTTAGCCACTTGACTAACTCAAAAATAATGCTTTTGGTTTAAGATGCATTTCTTATTTCCCTGCTCTTCCATCATAAAAAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAA... | GTTTACACTGAGATACAGAGTTCCCCTCACTACTGCCTTCATACCAGGTCTAGGTGGTACTTAGCCACTTGACTAACTCAAAAATAATGCTTTTGGTTTAAGATGCATTTCTTATTTCCCTGCTCTTCCATCATAAAAAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAA... | pathogenic | 109,015 |
Clinical classification of chromosome 6, position 52025691, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CCCTCACTACTGCCTTCATACCAGGTCTAGGTGGTACTTAGCCACTTGACTAACTCAAAAATAATGCTTTTGGTTTAAGATGCATTTCTTATTTCCCTGCTCTTCCATCATAAAAAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTT... | CCCTCACTACTGCCTTCATACCAGGTCTAGGTGGTACTTAGCCACTTGACTAACTCAAAAATAATGCTTTTGGTTTAAGATGCATTTCTTATTTCCCTGCTCTTCCATCATAAAAAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTT... | pathogenic | 109,016 |
A genetic variant on chromosome 6, position 52025704, affects the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CTTCATACCAGGTCTAGGTGGTACTTAGCCACTTGACTAACTCAAAAATAATGCTTTTGGTTTAAGATGCATTTCTTATTTCCCTGCTCTTCCATCATAAAAAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTTCCTTACTTTCTAA... | CTTCATACCAGGTCTAGGTGGTACTTAGCCACTTGACTAACTCAAAAATAATGCTTTTGGTTTAAGATGCATTTCTTATTTCCCTGCTCTTCCATCATAAAAAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTTCCTTACTTTCTAA... | pathogenic | 109,017 |
Is chromosome 6, position 52025804, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AAAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTTCCTTACTTTCTAAATCACAACCAAATTTGAACTATCTCAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGG... | AAAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTTCCTTACTTTCTAAATCACAACCAAATTTGAACTATCTCAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGG... | pathogenic | 109,019 |
Determine if the mutation at chromosome 6, position 52025805 in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Polycystic_kidney_disease_4'] | AAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTTCCTTACTTTCTAAATCACAACCAAATTTGAACTATCTCAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGT... | AAAACATGGAATCTTAGGGAGTAGTGCCTTTATCAAATAAGGAAGCTGAGTCTCAGAAAAGTCAAGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTTCCTTACTTTCTAAATCACAACCAAATTTGAACTATCTCAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGT... | pathogenic | 109,020 |
A genetic variant on chromosome 6, position 52025869, affects the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTTCCTTACTTTCTAAATCACAACCAAATTTGAACTATCTCAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTT... | AGCATAAATTAGCAAAATTAGTGATAGACTAGAGCCAAATCCTAGTCCCCACAGTGTTCCACCAAGCTGAGACCAAATTTTTTCTAAGAAATGTCTTAGTTAGTACTCCAACAGTCTAAGATTCTGTTTCTATAGTTTTTTTCCTTACTTTCTAAATCACAACCAAATTTGAACTATCTCAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTT... | pathogenic | 109,022 |
Does the genetic variant at chromosome 6, position 52026038, impacting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TGAACTATCTCAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTTGAAATATGAGTCCACCTGTGAAATATTACAAAATGATAAAAATTTAATCATACTTAATAAATTTTAAACAACGCAAATTGGCAGATAGGGTCTAAAACTAGGTGAAGGCATTTACGTTCTTAAATGATCAAATTATGAGCTCTTACAAATGGTGTTATTTAATTTAAAA... | TGAACTATCTCAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTTGAAATATGAGTCCACCTGTGAAATATTACAAAATGATAAAAATTTAATCATACTTAATAAATTTTAAACAACGCAAATTGGCAGATAGGGTCTAAAACTAGGTGAAGGCATTTACGTTCTTAAATGATCAAATTATGAGCTCTTACAAATGGTGTTATTTAATTTAAAA... | pathogenic | 109,025 |
Variant on chromosome 6, at position 52026048, affecting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | CAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTTGAAATATGAGTCCACCTGTGAAATATTACAAAATGATAAAAATTTAATCATACTTAATAAATTTTAAACAACGCAAATTGGCAGATAGGGTCTAAAACTAGGTGAAGGCATTTACGTTCTTAAATGATCAAATTATGAGCTCTTACAAATGGTGTTATTTAATTTAAAATACAAATCCA... | CAAGTGCAACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTTGAAATATGAGTCCACCTGTGAAATATTACAAAATGATAAAAATTTAATCATACTTAATAAATTTTAAACAACGCAAATTGGCAGATAGGGTCTAAAACTAGGTGAAGGCATTTACGTTCTTAAATGATCAAATTATGAGCTCTTACAAATGGTGTTATTTAATTTAAAATACAAATCCA... | pathogenic | 109,026 |
Does the variant impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6, position 52026055, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTTGAAATATGAGTCCACCTGTGAAATATTACAAAATGATAAAAATTTAATCATACTTAATAAATTTTAAACAACGCAAATTGGCAGATAGGGTCTAAAACTAGGTGAAGGCATTTACGTTCTTAAATGATCAAATTATGAGCTCTTACAAATGGTGTTATTTAATTTAAAATACAAATCCAGTTAATG... | AACAAGGCTTTAAGTGAATAGAAATTGAAAGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTTGAAATATGAGTCCACCTGTGAAATATTACAAAATGATAAAAATTTAATCATACTTAATAAATTTTAAACAACGCAAATTGGCAGATAGGGTCTAAAACTAGGTGAAGGCATTTACGTTCTTAAATGATCAAATTATGAGCTCTTACAAATGGTGTTATTTAATTTAAAATACAAATCCAGTTAATG... | pathogenic | 109,028 |
Is the variant located on chromosome 6 at position 52026084, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTTGAAATATGAGTCCACCTGTGAAATATTACAAAATGATAAAAATTTAATCATACTTAATAAATTTTAAACAACGCAAATTGGCAGATAGGGTCTAAAACTAGGTGAAGGCATTTACGTTCTTAAATGATCAAATTATGAGCTCTTACAAATGGTGTTATTTAATTTAAAATACAAATCCAGTTAATGCATCAAATTAAAATACAATCAAACATTTA... | AGCTTTTCTTCACTGGAGGGAAAGGCTAGGCAATTTTTGGTATATCTAAACGGAGAAAACAGTCCAACCAATTTAATTGTTCTGTGCATTTGGCTTATTATTGTTGAAATATGAGTCCACCTGTGAAATATTACAAAATGATAAAAATTTAATCATACTTAATAAATTTTAAACAACGCAAATTGGCAGATAGGGTCTAAAACTAGGTGAAGGCATTTACGTTCTTAAATGATCAAATTATGAGCTCTTACAAATGGTGTTATTTAATTTAAAATACAAATCCAGTTAATGCATCAAATTAAAATACAATCAAACATTTA... | pathogenic | 109,031 |
Chromosome 6, position 52028187, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCCCTGCTGAAGCCTATTCCTGAGATGCTGAGGATGGTCCCTCCTAAAGTATGAATACGGAAAGCAAAATATTATAGCTGATATTCTGAACTAAGAATTCATAGCACCTGTGGAAGTCCTAGGTCAATTAAGTGGAAGGTAGGGCATGTGTTAGTGAAACCTCAATTATTTTTTCTCACCCCCACCAAAGCTAAATTTGTGATTATTTAGACAGGAGTCAGATGTGGTAAATTCACATAACAGTAAAATAATACAAATTGTTATATAGGAAGGACGTCTTCAACACAAACTTTTCAAGTACCTTTGTATATCCCAGAAGC... | TCCCTGCTGAAGCCTATTCCTGAGATGCTGAGGATGGTCCCTCCTAAAGTATGAATACGGAAAGCAAAATATTATAGCTGATATTCTGAACTAAGAATTCATAGCACCTGTGGAAGTCCTAGGTCAATTAAGTGGAAGGTAGGGCATGTGTTAGTGAAACCTCAATTATTTTTTCTCACCCCCACCAAAGCTAAATTTGTGATTATTTAGACAGGAGTCAGATGTGGTAAATTCACATAACAGTAAAATAATACAAATTGTTATATAGGAAGGACGTCTTCAACACAAACTTTTCAAGTACCTTTGTATATCCCAGAAGC... | pathogenic | 109,041 |
The genetic variant at chromosome 6, position 52028197, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease_4'] | AGCCTATTCCTGAGATGCTGAGGATGGTCCCTCCTAAAGTATGAATACGGAAAGCAAAATATTATAGCTGATATTCTGAACTAAGAATTCATAGCACCTGTGGAAGTCCTAGGTCAATTAAGTGGAAGGTAGGGCATGTGTTAGTGAAACCTCAATTATTTTTTCTCACCCCCACCAAAGCTAAATTTGTGATTATTTAGACAGGAGTCAGATGTGGTAAATTCACATAACAGTAAAATAATACAAATTGTTATATAGGAAGGACGTCTTCAACACAAACTTTTCAAGTACCTTTGTATATCCCAGAAGCCACCACTTTA... | AGCCTATTCCTGAGATGCTGAGGATGGTCCCTCCTAAAGTATGAATACGGAAAGCAAAATATTATAGCTGATATTCTGAACTAAGAATTCATAGCACCTGTGGAAGTCCTAGGTCAATTAAGTGGAAGGTAGGGCATGTGTTAGTGAAACCTCAATTATTTTTTCTCACCCCCACCAAAGCTAAATTTGTGATTATTTAGACAGGAGTCAGATGTGGTAAATTCACATAACAGTAAAATAATACAAATTGTTATATAGGAAGGACGTCTTCAACACAAACTTTTCAAGTACCTTTGTATATCCCAGAAGCCACCACTTTA... | pathogenic | 109,043 |
The chromosome 6, position 52028236 genetic variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TATGAATACGGAAAGCAAAATATTATAGCTGATATTCTGAACTAAGAATTCATAGCACCTGTGGAAGTCCTAGGTCAATTAAGTGGAAGGTAGGGCATGTGTTAGTGAAACCTCAATTATTTTTTCTCACCCCCACCAAAGCTAAATTTGTGATTATTTAGACAGGAGTCAGATGTGGTAAATTCACATAACAGTAAAATAATACAAATTGTTATATAGGAAGGACGTCTTCAACACAAACTTTTCAAGTACCTTTGTATATCCCAGAAGCCACCACTTTAATCAACTTACACACTAATGAAAAATCAAATTTCTTAGTC... | TATGAATACGGAAAGCAAAATATTATAGCTGATATTCTGAACTAAGAATTCATAGCACCTGTGGAAGTCCTAGGTCAATTAAGTGGAAGGTAGGGCATGTGTTAGTGAAACCTCAATTATTTTTTCTCACCCCCACCAAAGCTAAATTTGTGATTATTTAGACAGGAGTCAGATGTGGTAAATTCACATAACAGTAAAATAATACAAATTGTTATATAGGAAGGACGTCTTCAACACAAACTTTTCAAGTACCTTTGTATATCCCAGAAGCCACCACTTTAATCAACTTACACACTAATGAAAAATCAAATTTCTTAGTC... | pathogenic | 109,044 |
Does the variant impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6, position 52028251, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | CAAAATATTATAGCTGATATTCTGAACTAAGAATTCATAGCACCTGTGGAAGTCCTAGGTCAATTAAGTGGAAGGTAGGGCATGTGTTAGTGAAACCTCAATTATTTTTTCTCACCCCCACCAAAGCTAAATTTGTGATTATTTAGACAGGAGTCAGATGTGGTAAATTCACATAACAGTAAAATAATACAAATTGTTATATAGGAAGGACGTCTTCAACACAAACTTTTCAAGTACCTTTGTATATCCCAGAAGCCACCACTTTAATCAACTTACACACTAATGAAAAATCAAATTTCTTAGTCTTCTTATCATGTATT... | CAAAATATTATAGCTGATATTCTGAACTAAGAATTCATAGCACCTGTGGAAGTCCTAGGTCAATTAAGTGGAAGGTAGGGCATGTGTTAGTGAAACCTCAATTATTTTTTCTCACCCCCACCAAAGCTAAATTTGTGATTATTTAGACAGGAGTCAGATGTGGTAAATTCACATAACAGTAAAATAATACAAATTGTTATATAGGAAGGACGTCTTCAACACAAACTTTTCAAGTACCTTTGTATATCCCAGAAGCCACCACTTTAATCAACTTACACACTAATGAAAAATCAAATTTCTTAGTCTTCTTATCATGTATT... | pathogenic | 109,049 |
A genetic variant at chromosome 6, position 52033030, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | GTAAAAAAAAAATAGGACCAATAGGCAGGGCCTTTCTTTGGCTTGTTTATAAAGCATTCAATATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAA... | GTAAAAAAAAAATAGGACCAATAGGCAGGGCCTTTCTTTGGCTTGTTTATAAAGCATTCAATATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAA... | pathogenic | 109,054 |
Variant chromosome 6, position 52033042, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TAGGACCAATAGGCAGGGCCTTTCTTTGGCTTGTTTATAAAGCATTCAATATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAACTTTGTGATAAA... | TAGGACCAATAGGCAGGGCCTTTCTTTGGCTTGTTTATAAAGCATTCAATATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAACTTTGTGATAAA... | pathogenic | 109,055 |
Chromosome 6, position 52033080, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AAAGCATTCAATATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAACTTTGTGATAAACTGAAAGCCTCAACTACCTGAGCCTCAGTTAATCACAG... | AAAGCATTCAATATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAACTTTGTGATAAACTGAAAGCCTCAACTACCTGAGCCTCAGTTAATCACAG... | pathogenic | 109,056 |
Evaluate this variant at chromosome 6, position 52033091, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAACTTTGTGATAAACTGAAAGCCTCAACTACCTGAGCCTCAGTTAATCACAGGCTGCCAACTG... | TATCTGGCAGAATGATGGCATTCACTTCAACAAAGATTTATTGGTGCTTACTCTATGTCAATTCCTGGACCAGGTACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAACTTTGTGATAAACTGAAAGCCTCAACTACCTGAGCCTCAGTTAATCACAGGCTGCCAACTG... | pathogenic | 109,057 |
Variant chromosome 6, position 52033166, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | ACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAACTTTGTGATAAACTGAAAGCCTCAACTACCTGAGCCTCAGTTAATCACAGGCTGCCAACTGATCAGACCATGCTCCAATAAGGCAAACAGGGAGCTGTTTCTGGCCTCACTTCCATTTTCTGTCTATAAATGCTGC... | ACTTTCATCTGCTTTATTTCCTATTTTCATGATTACCTTGAAAGAATTATTCCCACCTATCAAATGAAGGAACTGAAGATAAAAGAAGTTAAATATCTTACCCAAGGAGTATGGTAAGTTCAACTAAGTTTGGCCTAAGGCTGTCTCTGTACCTTGAGTCTCTACATAAAGAACTGCAACCCAACTTTGTGATAAACTGAAAGCCTCAACTACCTGAGCCTCAGTTAATCACAGGCTGCCAACTGATCAGACCATGCTCCAATAAGGCAAACAGGGAGCTGTTTCTGGCCTCACTTCCATTTTCTGTCTATAAATGCTGC... | pathogenic | 109,058 |
The chromosome 6, position 52043009 genetic variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATCCTTTCAAGGGTTTTGCTTCTGCAAATGGGTAGGTGGTGATTTATCACATTATTGTATCCATTCATTACATATGCAAATATTCTGTAAATTTCTTGCTGATAGGCCCCAGCCTGGTTCTCTTTAAATACCCCAGAGCATCATT... | TTATTGTTGATGGTAACAATTAAAGGTTGAAGAGGTGATGATATCTTGCCATTCTCATTTGAAAGTTTAGACTATGGCCACACAAGAGTCCGTACCTTAAAGAAGACAATGCTATCTCAGCACAAAAATGAATGAAGAAAGTATGTAAAGCAAAGCCAAGATTTTCCTCAAAAAAATCCTTTCAAGGGTTTTGCTTCTGCAAATGGGTAGGTGGTGATTTATCACATTATTGTATCCATTCATTACATATGCAAATATTCTGTAAATTTCTTGCTGATAGGCCCCAGCCTGGTTCTCTTTAAATACCCCAGAGCATCATT... | pathogenic | 109,068 |
Variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), located at chromosome 6 position 52043632: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CTCTCTCCCTCTCCCTTTCCCCATAGTCTTAATAAAAGATAATTTCTACCCGCTTGGCATATCCCTTCTCAGAGTTTTCCATCTTTTGCTAAAATAATGTACAATCCTCCTAGAAATCCCTTCACTGAACAGCATGTTCTGATAGGGTAACCAACTCACTCCAATTTTCCTAGGACCAAGTTTTAGCACTAAGAGTTCTGCATTCCAGTTTTAAAACTGAGTCTTGTGTCCTGGGAACCCCCTCAGTCCCAAGCAAACTGGGAAAGTTGGCCAACCTACCTGTGCAAAGCACTTTGTCTAGGGGAAACAAAAATGACTGA... | CTCTCTCCCTCTCCCTTTCCCCATAGTCTTAATAAAAGATAATTTCTACCCGCTTGGCATATCCCTTCTCAGAGTTTTCCATCTTTTGCTAAAATAATGTACAATCCTCCTAGAAATCCCTTCACTGAACAGCATGTTCTGATAGGGTAACCAACTCACTCCAATTTTCCTAGGACCAAGTTTTAGCACTAAGAGTTCTGCATTCCAGTTTTAAAACTGAGTCTTGTGTCCTGGGAACCCCCTCAGTCCCAAGCAAACTGGGAAAGTTGGCCAACCTACCTGTGCAAAGCACTTTGTCTAGGGGAAACAAAAATGACTGA... | pathogenic | 109,077 |
Mutation at chromosome 6, position 52046005, within PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | TAAATGTGATAAATATTGAGTAAATTTATCTCTGTCATATAGAAGTAAACTTCATAAACTTAAACTGCATAAGGACTTCTTATCACTCTGTATTTCCAACCAGGTACCTACTTTATGTGACAAGCTCTTTATTTGCTAGTAAAGACCAACAAATTTGGTGCATTCCTTCCACCACTCTGTGAATATATAACTAAAGACTAGAGTGTATTTGGACACTTTACTTGGGGTCTCTTTTGTCACAGAATGGTAGATTCCTAAAGAGAGACTATATATCTTTCCCTTTCACTGGAACTAATGTTAATCTAATAGAACTCAAAAAC... | TAAATGTGATAAATATTGAGTAAATTTATCTCTGTCATATAGAAGTAAACTTCATAAACTTAAACTGCATAAGGACTTCTTATCACTCTGTATTTCCAACCAGGTACCTACTTTATGTGACAAGCTCTTTATTTGCTAGTAAAGACCAACAAATTTGGTGCATTCCTTCCACCACTCTGTGAATATATAACTAAAGACTAGAGTGTATTTGGACACTTTACTTGGGGTCTCTTTTGTCACAGAATGGTAGATTCCTAAAGAGAGACTATATATCTTTCCCTTTCACTGGAACTAATGTTAATCTAATAGAACTCAAAAAC... | pathogenic | 109,085 |
Chromosome 6, position 52048588, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CCCTGGAAAAATTTAGCTGGCCCTGTGAACAGAGAAAAATTGGCCACTTTTCACAGGGAGTGAGGGAGGCGTACAGCAGCTGACACCCATAAAAACTTGGCCAGCCCAGCTGAGGAATGTTGGCATTTAACTTCAGTTTCTCTATTAGAATTTTCTTTAAGCCCAACCACCTGCTTCCCCATTCCATGTCCCCACAGAAGAATAACAGCTCTCTGTATTTGAACCCTGCTTTGTGCTCTACCAGAAGTTCCCATTTCATTAGCTGCTCCCAGCAGCCCTGTGAGGTGGGTCATTGGGTATCCTAATGTCTACTTTAGGGA... | CCCTGGAAAAATTTAGCTGGCCCTGTGAACAGAGAAAAATTGGCCACTTTTCACAGGGAGTGAGGGAGGCGTACAGCAGCTGACACCCATAAAAACTTGGCCAGCCCAGCTGAGGAATGTTGGCATTTAACTTCAGTTTCTCTATTAGAATTTTCTTTAAGCCCAACCACCTGCTTCCCCATTCCATGTCCCCACAGAAGAATAACAGCTCTCTGTATTTGAACCCTGCTTTGTGCTCTACCAGAAGTTCCCATTTCATTAGCTGCTCCCAGCAGCCCTGTGAGGTGGGTCATTGGGTATCCTAATGTCTACTTTAGGGA... | pathogenic | 109,097 |
Gene mutation in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) at chromosome 6, position 52048593—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | GAAAAATTTAGCTGGCCCTGTGAACAGAGAAAAATTGGCCACTTTTCACAGGGAGTGAGGGAGGCGTACAGCAGCTGACACCCATAAAAACTTGGCCAGCCCAGCTGAGGAATGTTGGCATTTAACTTCAGTTTCTCTATTAGAATTTTCTTTAAGCCCAACCACCTGCTTCCCCATTCCATGTCCCCACAGAAGAATAACAGCTCTCTGTATTTGAACCCTGCTTTGTGCTCTACCAGAAGTTCCCATTTCATTAGCTGCTCCCAGCAGCCCTGTGAGGTGGGTCATTGGGTATCCTAATGTCTACTTTAGGGATGAAG... | GAAAAATTTAGCTGGCCCTGTGAACAGAGAAAAATTGGCCACTTTTCACAGGGAGTGAGGGAGGCGTACAGCAGCTGACACCCATAAAAACTTGGCCAGCCCAGCTGAGGAATGTTGGCATTTAACTTCAGTTTCTCTATTAGAATTTTCTTTAAGCCCAACCACCTGCTTCCCCATTCCATGTCCCCACAGAAGAATAACAGCTCTCTGTATTTGAACCCTGCTTTGTGCTCTACCAGAAGTTCCCATTTCATTAGCTGCTCCCAGCAGCCCTGTGAGGTGGGTCATTGGGTATCCTAATGTCTACTTTAGGGATGAAG... | pathogenic | 109,098 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 52050255, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CCAAGTTTGTGGTTAACTCCTTACAACAGTCCCAGGAAGCTGATCCACTCAGTTTCCACAACTATACATCTTCCGCATCTACAAAATGTAAAGGTTGGGGTAGCATTAACAATAAGTCCCTTTCCAAATCTTTCACTTTAAGAATGTCACTTTCAGACACTGGAAAATAAATAAAATAGCTTTAATATTATCACCTGTCTGACAACCTCCCAGGATGTTGTTCCCTTGGGAATGTGAGTGAGAATATGTGAGTGAGAATTGTTGCAACCCCAATCACCCCTTTACCAGAAATCACTGTATTAGGAAGCTGGATGCGAAAG... | CCAAGTTTGTGGTTAACTCCTTACAACAGTCCCAGGAAGCTGATCCACTCAGTTTCCACAACTATACATCTTCCGCATCTACAAAATGTAAAGGTTGGGGTAGCATTAACAATAAGTCCCTTTCCAAATCTTTCACTTTAAGAATGTCACTTTCAGACACTGGAAAATAAATAAAATAGCTTTAATATTATCACCTGTCTGACAACCTCCCAGGATGTTGTTCCCTTGGGAATGTGAGTGAGAATATGTGAGTGAGAATTGTTGCAACCCCAATCACCCCTTTACCAGAAATCACTGTATTAGGAAGCTGGATGCGAAAG... | pathogenic | 109,108 |
Is chromosome 6, position 52050258, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AGTTTGTGGTTAACTCCTTACAACAGTCCCAGGAAGCTGATCCACTCAGTTTCCACAACTATACATCTTCCGCATCTACAAAATGTAAAGGTTGGGGTAGCATTAACAATAAGTCCCTTTCCAAATCTTTCACTTTAAGAATGTCACTTTCAGACACTGGAAAATAAATAAAATAGCTTTAATATTATCACCTGTCTGACAACCTCCCAGGATGTTGTTCCCTTGGGAATGTGAGTGAGAATATGTGAGTGAGAATTGTTGCAACCCCAATCACCCCTTTACCAGAAATCACTGTATTAGGAAGCTGGATGCGAAAGTGT... | AGTTTGTGGTTAACTCCTTACAACAGTCCCAGGAAGCTGATCCACTCAGTTTCCACAACTATACATCTTCCGCATCTACAAAATGTAAAGGTTGGGGTAGCATTAACAATAAGTCCCTTTCCAAATCTTTCACTTTAAGAATGTCACTTTCAGACACTGGAAAATAAATAAAATAGCTTTAATATTATCACCTGTCTGACAACCTCCCAGGATGTTGTTCCCTTGGGAATGTGAGTGAGAATATGTGAGTGAGAATTGTTGCAACCCCAATCACCCCTTTACCAGAAATCACTGTATTAGGAAGCTGGATGCGAAAGTGT... | pathogenic | 109,109 |
A genetic variant on chromosome 6, position 52054145, affects the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ACTGAAAAGTTGTACATTTTCTAAATCAAAATGTAAATTAAGGTATCATCTTTTTCTTCTTGGAGAGGGAAATAAACTATAAAAAGTAGGCTAGCTGAGCCCCAAAGCCACAAGGGATTTGACAGAGAAGGAAACATGAGCAAAAGTTGGAAGCCTGAAGACACTGAGGGCAAACTGCACCATTCTGCCTTGGCTGTGGGCGCACATCACACACAGACACCTCAGCAGGGCCCAGGAGGAGGACTTTGTCCCTAAGACTAGCGGGCAAGAGCCAGGTGAGACCACTGTGCCCAAGAGTGGTCAAGGGAGAGTTCGGGAAG... | ACTGAAAAGTTGTACATTTTCTAAATCAAAATGTAAATTAAGGTATCATCTTTTTCTTCTTGGAGAGGGAAATAAACTATAAAAAGTAGGCTAGCTGAGCCCCAAAGCCACAAGGGATTTGACAGAGAAGGAAACATGAGCAAAAGTTGGAAGCCTGAAGACACTGAGGGCAAACTGCACCATTCTGCCTTGGCTGTGGGCGCACATCACACACAGACACCTCAGCAGGGCCCAGGAGGAGGACTTTGTCCCTAAGACTAGCGGGCAAGAGCCAGGTGAGACCACTGTGCCCAAGAGTGGTCAAGGGAGAGTTCGGGAAG... | pathogenic | 109,121 |
The mutation in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) at chromosome 6, position 52054147—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TGAAAAGTTGTACATTTTCTAAATCAAAATGTAAATTAAGGTATCATCTTTTTCTTCTTGGAGAGGGAAATAAACTATAAAAAGTAGGCTAGCTGAGCCCCAAAGCCACAAGGGATTTGACAGAGAAGGAAACATGAGCAAAAGTTGGAAGCCTGAAGACACTGAGGGCAAACTGCACCATTCTGCCTTGGCTGTGGGCGCACATCACACACAGACACCTCAGCAGGGCCCAGGAGGAGGACTTTGTCCCTAAGACTAGCGGGCAAGAGCCAGGTGAGACCACTGTGCCCAAGAGTGGTCAAGGGAGAGTTCGGGAAGGA... | TGAAAAGTTGTACATTTTCTAAATCAAAATGTAAATTAAGGTATCATCTTTTTCTTCTTGGAGAGGGAAATAAACTATAAAAAGTAGGCTAGCTGAGCCCCAAAGCCACAAGGGATTTGACAGAGAAGGAAACATGAGCAAAAGTTGGAAGCCTGAAGACACTGAGGGCAAACTGCACCATTCTGCCTTGGCTGTGGGCGCACATCACACACAGACACCTCAGCAGGGCCCAGGAGGAGGACTTTGTCCCTAAGACTAGCGGGCAAGAGCCAGGTGAGACCACTGTGCCCAAGAGTGGTCAAGGGAGAGTTCGGGAAGGA... | pathogenic | 109,122 |
Chromosome 6, position 52055694, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GTGGAAAGCACTGAATCAAGGGATCAAGACAGCTGAATTTTATTCCAGGGTCACTAGCTGAATGAATTTTGATGAATCACAAATTCTTGGGGCCCCAAATTTCCTCTTTCTGTCATGTCAAAGAATGTTCTCTAAGGTTTCCCCCAACTACGCTGTTCTACAATTCTATCCCTATGAGAAATGTCAGACTCCCTCTAGGGAGTAGTATATTCTTAACAACTAACTGCTCTGGAGTCAAACTTTTTTGTCAAATAAAATATATTCAAATCCCCAAATTAGTGTATGAGGCCCAAATATAAGACCATTAGTGCCTGAGGTGG... | GTGGAAAGCACTGAATCAAGGGATCAAGACAGCTGAATTTTATTCCAGGGTCACTAGCTGAATGAATTTTGATGAATCACAAATTCTTGGGGCCCCAAATTTCCTCTTTCTGTCATGTCAAAGAATGTTCTCTAAGGTTTCCCCCAACTACGCTGTTCTACAATTCTATCCCTATGAGAAATGTCAGACTCCCTCTAGGGAGTAGTATATTCTTAACAACTAACTGCTCTGGAGTCAAACTTTTTTGTCAAATAAAATATATTCAAATCCCCAAATTAGTGTATGAGGCCCAAATATAAGACCATTAGTGCCTGAGGTGG... | pathogenic | 109,127 |
Regarding the variant at chromosome 6 and position 52056746, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GCATTATAGGATGTTCAACAGCTTCCCTGGCCTCCACCCACCAGATGCCAATAGCACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGG... | GCATTATAGGATGTTCAACAGCTTCCCTGGCCTCCACCCACCAGATGCCAATAGCACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGG... | pathogenic | 109,135 |
Regarding the variant found on chromosome 6 at position 52056761 in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CAACAGCTTCCCTGGCCTCCACCCACCAGATGCCAATAGCACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAA... | CAACAGCTTCCCTGGCCTCCACCCACCAGATGCCAATAGCACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAA... | pathogenic | 109,136 |
A mutation at chromosome position 52056764 on chromosome 6 in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CAGCTTCCCTGGCCTCCACCCACCAGATGCCAATAGCACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAAGGA... | CAGCTTCCCTGGCCTCCACCCACCAGATGCCAATAGCACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAAGGA... | pathogenic | 109,137 |
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