question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
The mutation in gene COL4A4 (collagen type IV alpha 4 chain) at chromosome 2, position 227121047—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | GACCTTCCTTAAAATCCTTAGAAATACTATAATGAATTATAAAGCCCCCACATACCTCTTTTTTTTTTTCCATTCCATTTTCATATGAGAAATGGGAGTATTAAGCTCACTACAAATATTAGGACTCATCAGCAAATAAAAACATTCCTTATGAGTATGCATTAATTTCAAGAACATTGTACTTGACATAACAAGTATACCTAGCTCATATTTTGGAATTTTTTCTCTAACCTGTTAGAAAACGTTGCTTTCCAAGTAAAGTGTTTTGCTCTGGGAGTTATTGTACAAAATTTAAATGTAAACACCCTTTCATGCACTAA... | GACCTTCCTTAAAATCCTTAGAAATACTATAATGAATTATAAAGCCCCCACATACCTCTTTTTTTTTTTCCATTCCATTTTCATATGAGAAATGGGAGTATTAAGCTCACTACAAATATTAGGACTCATCAGCAAATAAAAACATTCCTTATGAGTATGCATTAATTTCAAGAACATTGTACTTGACATAACAAGTATACCTAGCTCATATTTTGGAATTTTTTCTCTAACCTGTTAGAAAACGTTGCTTTCCAAGTAAAGTGTTTTGCTCTGGGAGTTATTGTACAAAATTTAAATGTAAACACCCTTTCATGCACTAA... | pathogenic | 57,829 |
Mutation at chromosome 2, position 227144535, within COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hematuria,_benign_familial,_1'] | CTCATTCCTGTAATCCCAGCACTTTGGGAGGGCAAGGCTGGCAGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAACAAAAAAATTAGCCAGATGTGATGGCACATGCCTGGAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACTGGGAGGCAGAGGTGGCAGTGAGCTGAGATCGTACCACTGCACTCCAGCTTGGGTGACACAGTGAGACCCTGTCTCACAAAAAAAAAAAAAAAAGTTCAAACAAAGAAGTTATTAATGTCTTATACT... | CTCATTCCTGTAATCCCAGCACTTTGGGAGGGCAAGGCTGGCAGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAACAAAAAAATTAGCCAGATGTGATGGCACATGCCTGGAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACTGGGAGGCAGAGGTGGCAGTGAGCTGAGATCGTACCACTGCACTCCAGCTTGGGTGACACAGTGAGACCCTGTCTCACAAAAAAAAAAAAAAAAGTTCAAACAAAGAAGTTATTAATGTCTTATACT... | pathogenic | 57,836 |
The mutation impacting COL4A4 (collagen type IV alpha 4 chain) on chromosome 2 at position 227147411: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Benign_familial_hematuria'] | CTTGAACCCGGAAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCGCTCCAGCCTGGGTAACAGAGTGAGGTTCTGTCTCAAAACAACAAAACAAAACACCCATTAAACATCTGCATATATTTTCTAGACCTTATATTTGTCAAACAGCTTCTGGATCCATCATCTTATTTAACGCTTAAAACAGCTGTGGTTAGAACTTCGGGTCACACCATTCCAAAGGATGGTAGGAGAACTGGGGCTCAGTTCTGGGCTGTGATTTATCTGCCATCCTTGTTCTTTTGTTCTCTGTAGAGCCTTCTCCTCTCTAAAACCTCA... | CTTGAACCCGGAAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCGCTCCAGCCTGGGTAACAGAGTGAGGTTCTGTCTCAAAACAACAAAACAAAACACCCATTAAACATCTGCATATATTTTCTAGACCTTATATTTGTCAAACAGCTTCTGGATCCATCATCTTATTTAACGCTTAAAACAGCTGTGGTTAGAACTTCGGGTCACACCATTCCAAAGGATGGTAGGAGAACTGGGGCTCAGTTCTGGGCTGTGATTTATCTGCCATCCTTGTTCTTTTGTTCTCTGTAGAGCCTTCTCCTCTCTAAAACCTCA... | pathogenic | 57,841 |
Considering the genetic mutation at chromosome 2, position 227164755, impacting COL4A3: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alport_syndrome', 'Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'COL4A3-related_disorder', 'Hematuria,_benign_familial,_2', 'Inborn_genetic_diseases'] | GGAGCTCTCATACTTGATTGTGCATGGGAATGTACAGGAAATTTTAAAACAGCTAGAGAGTCTGATAAAATTGGCTTGGAATGGTCTGGGTAGCAACATTGTTTTATCCTCCCAAAGATTCTAATGCACAACGATAGTTGAGAATCACTGGCATAAAAGACAGAAAGAAGACTGTAAGATTCATGCTATAGTCAAAATAAAAAGAATGGGAGGAGTGTCTTCATTCACTGTTAGGGTTTTGCCTACCTGCATGGCTACAAAGTTCTAAGATACCAATAGATCCCAAATTTAACTGCAAGCAAGTGGTTCCCTAAAATCAG... | GGAGCTCTCATACTTGATTGTGCATGGGAATGTACAGGAAATTTTAAAACAGCTAGAGAGTCTGATAAAATTGGCTTGGAATGGTCTGGGTAGCAACATTGTTTTATCCTCCCAAAGATTCTAATGCACAACGATAGTTGAGAATCACTGGCATAAAAGACAGAAAGAAGACTGTAAGATTCATGCTATAGTCAAAATAAAAAGAATGGGAGGAGTGTCTTCATTCACTGTTAGGGTTTTGCCTACCTGCATGGCTACAAAGTTCTAAGATACCAATAGATCCCAAATTTAACTGCAAGCAAGTGGTTCCCTAAAATCAG... | pathogenic | 57,853 |
Does the genetic variant at chromosome 2, position 227164758, impacting gene COL4A3, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GCTCTCATACTTGATTGTGCATGGGAATGTACAGGAAATTTTAAAACAGCTAGAGAGTCTGATAAAATTGGCTTGGAATGGTCTGGGTAGCAACATTGTTTTATCCTCCCAAAGATTCTAATGCACAACGATAGTTGAGAATCACTGGCATAAAAGACAGAAAGAAGACTGTAAGATTCATGCTATAGTCAAAATAAAAAGAATGGGAGGAGTGTCTTCATTCACTGTTAGGGTTTTGCCTACCTGCATGGCTACAAAGTTCTAAGATACCAATAGATCCCAAATTTAACTGCAAGCAAGTGGTTCCCTAAAATCAGTGA... | GCTCTCATACTTGATTGTGCATGGGAATGTACAGGAAATTTTAAAACAGCTAGAGAGTCTGATAAAATTGGCTTGGAATGGTCTGGGTAGCAACATTGTTTTATCCTCCCAAAGATTCTAATGCACAACGATAGTTGAGAATCACTGGCATAAAAGACAGAAAGAAGACTGTAAGATTCATGCTATAGTCAAAATAAAAAGAATGGGAGGAGTGTCTTCATTCACTGTTAGGGTTTTGCCTACCTGCATGGCTACAAAGTTCTAAGATACCAATAGATCCCAAATTTAACTGCAAGCAAGTGGTTCCCTAAAATCAGTGA... | benign | 57,854 |
Is the genetic variant on chromosome 2, position 227237970, gene COL4A3, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alport_syndrome', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | CGCCACCACATCTGACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCCCCTGGGCCTCGCAAAGTGCTGGGATTGCAGGCGTGAGCCCCCGTGCCCAGCCTATTTCATTCCTTTTTATGGCTGAGTAGCATTCCATGGTATATATACCACATTGTCTTTATCCACTCATTGATTGATGGGCATCTGGGCTGGTTCCAGATTTTTGCAATTGCGAATAGTCCTGTTATAAATATGAGTGTGCAAGTGTATTTTTCGTATAATGACTTAT... | CGCCACCACATCTGACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCCCCTGGGCCTCGCAAAGTGCTGGGATTGCAGGCGTGAGCCCCCGTGCCCAGCCTATTTCATTCCTTTTTATGGCTGAGTAGCATTCCATGGTATATATACCACATTGTCTTTATCCACTCATTGATTGATGGGCATCTGGGCTGGTTCCAGATTTTTGCAATTGCGAATAGTCCTGTTATAAATATGAGTGTGCAAGTGTATTTTTCGTATAATGACTTAT... | pathogenic | 57,860 |
Variant at chromosome position 227244910, chromosome 2, gene COL4A3: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CCTGCCATTTCCCTGTCTACCATATCCATGTATGTGTTCTTTTTGTCCATTTCTCCTTCTTCCGATCCTAATTTTGAAAAAGTCATCCAGATTCTGGGCAGAAACTGAACACTGACTTCCTCTAAGGCATGGACCCAGGTTTTCTTCCATTTCTATTGGTAGAACGAGTTTGCCACTTCAACCCTGGACTTAGATCAGCCTAATGCCAATTCCGTTTTTAAAAAAATTGTTATCTGTAGCCTACTCTGTTTAATTCTCTTCAGCATTTCTTTAGAGATGCTGAAATTCATTAAAATAGTCACAAACACATGGCACTTAGT... | CCTGCCATTTCCCTGTCTACCATATCCATGTATGTGTTCTTTTTGTCCATTTCTCCTTCTTCCGATCCTAATTTTGAAAAAGTCATCCAGATTCTGGGCAGAAACTGAACACTGACTTCCTCTAAGGCATGGACCCAGGTTTTCTTCCATTTCTATTGGTAGAACGAGTTTGCCACTTCAACCCTGGACTTAGATCAGCCTAATGCCAATTCCGTTTTTAAAAAAATTGTTATCTGTAGCCTACTCTGTTTAATTCTCTTCAGCATTTCTTTAGAGATGCTGAAATTCATTAAAATAGTCACAAACACATGGCACTTAGT... | benign | 57,877 |
Chromosome 2, position 227244939, gene COL4A3: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTATGTGTTCTTTTTGTCCATTTCTCCTTCTTCCGATCCTAATTTTGAAAAAGTCATCCAGATTCTGGGCAGAAACTGAACACTGACTTCCTCTAAGGCATGGACCCAGGTTTTCTTCCATTTCTATTGGTAGAACGAGTTTGCCACTTCAACCCTGGACTTAGATCAGCCTAATGCCAATTCCGTTTTTAAAAAAATTGTTATCTGTAGCCTACTCTGTTTAATTCTCTTCAGCATTTCTTTAGAGATGCTGAAATTCATTAAAATAGTCACAAACACATGGCACTTAGTATGGGTTACATGAGTGCAGGCATTCCAGA... | GTATGTGTTCTTTTTGTCCATTTCTCCTTCTTCCGATCCTAATTTTGAAAAAGTCATCCAGATTCTGGGCAGAAACTGAACACTGACTTCCTCTAAGGCATGGACCCAGGTTTTCTTCCATTTCTATTGGTAGAACGAGTTTGCCACTTCAACCCTGGACTTAGATCAGCCTAATGCCAATTCCGTTTTTAAAAAAATTGTTATCTGTAGCCTACTCTGTTTAATTCTCTTCAGCATTTCTTTAGAGATGCTGAAATTCATTAAAATAGTCACAAACACATGGCACTTAGTATGGGTTACATGAGTGCAGGCATTCCAGA... | benign | 57,879 |
Classify the chromosome 2 variant at position 227244975 affecting gene COL4A3 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | TCCTAATTTTGAAAAAGTCATCCAGATTCTGGGCAGAAACTGAACACTGACTTCCTCTAAGGCATGGACCCAGGTTTTCTTCCATTTCTATTGGTAGAACGAGTTTGCCACTTCAACCCTGGACTTAGATCAGCCTAATGCCAATTCCGTTTTTAAAAAAATTGTTATCTGTAGCCTACTCTGTTTAATTCTCTTCAGCATTTCTTTAGAGATGCTGAAATTCATTAAAATAGTCACAAACACATGGCACTTAGTATGGGTTACATGAGTGCAGGCATTCCAGAAGATTAATCCAGAAAACCTGAGTACCATGTTGTCAT... | TCCTAATTTTGAAAAAGTCATCCAGATTCTGGGCAGAAACTGAACACTGACTTCCTCTAAGGCATGGACCCAGGTTTTCTTCCATTTCTATTGGTAGAACGAGTTTGCCACTTCAACCCTGGACTTAGATCAGCCTAATGCCAATTCCGTTTTTAAAAAAATTGTTATCTGTAGCCTACTCTGTTTAATTCTCTTCAGCATTTCTTTAGAGATGCTGAAATTCATTAAAATAGTCACAAACACATGGCACTTAGTATGGGTTACATGAGTGCAGGCATTCCAGAAGATTAATCCAGAAAACCTGAGTACCATGTTGTCAT... | pathogenic | 57,880 |
Variant on chromosome 2, at position 227245960, affecting COL4A3: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['COL4A3-related_disorder'] | TTTTTATCAGACCTCAGCAGCTGTGAGGCTAATTAGGACTTTTGCACAGACTTTAATGTGCACAAGAATCACTAAAGAATCATGTTAAACATGCAGATTCTCGGTCAATAGTCTGGGAGGTGAGGCAGATCTAAGATTCTACATTTCTGATAAGCTTCCAGGTAATGCTAATGCTGCAGGCCCCAAACCCCACTTTGAGTAGCAAGGGTTTGAATGAATTTTTGTCTTTTCTGATAAACAATTATCAAGTTCCAATGAAATAAGCAAGCAATTGAATCTTATTAACAATGAAATAATCAGAAGGGCAAAACAGCTTGGCA... | TTTTTATCAGACCTCAGCAGCTGTGAGGCTAATTAGGACTTTTGCACAGACTTTAATGTGCACAAGAATCACTAAAGAATCATGTTAAACATGCAGATTCTCGGTCAATAGTCTGGGAGGTGAGGCAGATCTAAGATTCTACATTTCTGATAAGCTTCCAGGTAATGCTAATGCTGCAGGCCCCAAACCCCACTTTGAGTAGCAAGGGTTTGAATGAATTTTTGTCTTTTCTGATAAACAATTATCAAGTTCCAATGAAATAAGCAAGCAATTGAATCTTATTAACAATGAAATAATCAGAAGGGCAAAACAGCTTGGCA... | pathogenic | 57,887 |
Determine whether the variant at chromosome 2, position 227245971, in gene COL4A3 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Alport_syndrome', 'Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | CCTCAGCAGCTGTGAGGCTAATTAGGACTTTTGCACAGACTTTAATGTGCACAAGAATCACTAAAGAATCATGTTAAACATGCAGATTCTCGGTCAATAGTCTGGGAGGTGAGGCAGATCTAAGATTCTACATTTCTGATAAGCTTCCAGGTAATGCTAATGCTGCAGGCCCCAAACCCCACTTTGAGTAGCAAGGGTTTGAATGAATTTTTGTCTTTTCTGATAAACAATTATCAAGTTCCAATGAAATAAGCAAGCAATTGAATCTTATTAACAATGAAATAATCAGAAGGGCAAAACAGCTTGGCATGTGACTGAGA... | CCTCAGCAGCTGTGAGGCTAATTAGGACTTTTGCACAGACTTTAATGTGCACAAGAATCACTAAAGAATCATGTTAAACATGCAGATTCTCGGTCAATAGTCTGGGAGGTGAGGCAGATCTAAGATTCTACATTTCTGATAAGCTTCCAGGTAATGCTAATGCTGCAGGCCCCAAACCCCACTTTGAGTAGCAAGGGTTTGAATGAATTTTTGTCTTTTCTGATAAACAATTATCAAGTTCCAATGAAATAAGCAAGCAATTGAATCTTATTAACAATGAAATAATCAGAAGGGCAAAACAGCTTGGCATGTGACTGAGA... | pathogenic | 57,888 |
Clinically, how would you classify the variant at chromosome 2, position 227247563, gene COL4A3: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | GGAACTAACCCCCACAGGTGCTGAAGGAAACTATATGTTACAAGCTGATAGAATAGGATAGGATAGGGTAGAATGAAATGATTGTATTTAATAGCACAGAATAATAAAATAGTTTCATCTGTGCACACTTTCCTCTTCTTTTTCCCTTCCTTTCTCCCCAGCTTAAAACAGCATGTTAAAGGACTCTTTTATTTTATGGATAAAAGGCGTTTGCTTTATTTGAAATATCCACATCTCATTTGATAAGTCTTCATATCAGTCAGCCTGTTTAGTTTGTTGCTACTGAAATTATATGTAAAACCACAATGTACATTTACTAC... | GGAACTAACCCCCACAGGTGCTGAAGGAAACTATATGTTACAAGCTGATAGAATAGGATAGGATAGGGTAGAATGAAATGATTGTATTTAATAGCACAGAATAATAAAATAGTTTCATCTGTGCACACTTTCCTCTTCTTTTTCCCTTCCTTTCTCCCCAGCTTAAAACAGCATGTTAAAGGACTCTTTTATTTTATGGATAAAAGGCGTTTGCTTTATTTGAAATATCCACATCTCATTTGATAAGTCTTCATATCAGTCAGCCTGTTTAGTTTGTTGCTACTGAAATTATATGTAAAACCACAATGTACATTTACTAC... | pathogenic | 57,910 |
Does the variant impacting COL4A3 on chromosome 2, position 227247583, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | CTGAAGGAAACTATATGTTACAAGCTGATAGAATAGGATAGGATAGGGTAGAATGAAATGATTGTATTTAATAGCACAGAATAATAAAATAGTTTCATCTGTGCACACTTTCCTCTTCTTTTTCCCTTCCTTTCTCCCCAGCTTAAAACAGCATGTTAAAGGACTCTTTTATTTTATGGATAAAAGGCGTTTGCTTTATTTGAAATATCCACATCTCATTTGATAAGTCTTCATATCAGTCAGCCTGTTTAGTTTGTTGCTACTGAAATTATATGTAAAACCACAATGTACATTTACTACTTAACCATTTAAACAATCAT... | CTGAAGGAAACTATATGTTACAAGCTGATAGAATAGGATAGGATAGGGTAGAATGAAATGATTGTATTTAATAGCACAGAATAATAAAATAGTTTCATCTGTGCACACTTTCCTCTTCTTTTTCCCTTCCTTTCTCCCCAGCTTAAAACAGCATGTTAAAGGACTCTTTTATTTTATGGATAAAAGGCGTTTGCTTTATTTGAAATATCCACATCTCATTTGATAAGTCTTCATATCAGTCAGCCTGTTTAGTTTGTTGCTACTGAAATTATATGTAAAACCACAATGTACATTTACTACTTAACCATTTAAACAATCAT... | pathogenic | 57,911 |
Variant at chromosome 2, position 227248493, gene COL4A3: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Alport_syndrome', 'Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'COL4A3-related_disorder', 'Hematuria,_benign_familial,_2'] | GTTCTTGGCGCAATTAGACTTTGCCATTTATGCACAATTTGAGAAACAGTATTCTAATCCTGTTTTTAATTAAGATAATGGTTTTTTGGTCTTCAGCCTCATGACCCAGTAGCCATAAGGAATTCGGGTTACTTTGTCTAGATTTACCATTGCAAGGTTGGAAGCGAGAAACAGGAAAAATATCTGAATAGGCTCTTCTAGAACAACTAAGAATAATAAGAAACTTTGTATGTCTTTTAGGGTGAGCAGGGGTTTCCAGGACTCCCAGGGACACTGGGCTACCCAGGGATCCCGGTAGGTTTGCATGCCTAATTCCCCAA... | GTTCTTGGCGCAATTAGACTTTGCCATTTATGCACAATTTGAGAAACAGTATTCTAATCCTGTTTTTAATTAAGATAATGGTTTTTTGGTCTTCAGCCTCATGACCCAGTAGCCATAAGGAATTCGGGTTACTTTGTCTAGATTTACCATTGCAAGGTTGGAAGCGAGAAACAGGAAAAATATCTGAATAGGCTCTTCTAGAACAACTAAGAATAATAAGAAACTTTGTATGTCTTTTAGGGTGAGCAGGGGTTTCCAGGACTCCCAGGGACACTGGGCTACCCAGGGATCCCGGTAGGTTTGCATGCCTAATTCCCCAA... | pathogenic | 57,919 |
Regarding the variant at chromosome 2 and position 227251150, affecting gene COL4A3: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | GCCTTTGGGGCTGTGTGTGCTTTCCTTTGTGATTCAAAAAGACCCTTTCATAGACCTAAACCACAAGTGCTAACTTTCAGGTTATAATTATATATAACCAAAATTAGCTAGTATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGGTCACTGCAACCACCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACACGCATGGGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGA... | GCCTTTGGGGCTGTGTGTGCTTTCCTTTGTGATTCAAAAAGACCCTTTCATAGACCTAAACCACAAGTGCTAACTTTCAGGTTATAATTATATATAACCAAAATTAGCTAGTATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGGTCACTGCAACCACCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACACGCATGGGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGA... | pathogenic | 57,923 |
The chromosome 2, position 227253310 genetic variant in gene COL4A3: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Alport_syndrome', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome'] | TTAAAAAGTTATTAAAAGAATTTTTCTGGTTGGATGCATTTCCTGCTGTGATTTTCATTTGTGGATTTTTCTAGGGCTTTCCAGGAGCCATGGGACCTAGAGGACCTAAGGTAGACTACAGTTCATATGATGTAACAGCTAGCACACCCTACTCAATCTCAAAGCCAAACCTGGTCTGCTTCTTCATGTGGGTCACTGTTAGGCACCTCTCTGGAACTCACAAGGATCCCTAGCAGGGAAGAGCATGGCTAGCTGCTCTCACCTCTTTTCTCCTTGCATTTCAGTACCTTGATCCCTGATACAAAGAATCTTAATTCAAT... | TTAAAAAGTTATTAAAAGAATTTTTCTGGTTGGATGCATTTCCTGCTGTGATTTTCATTTGTGGATTTTTCTAGGGCTTTCCAGGAGCCATGGGACCTAGAGGACCTAAGGTAGACTACAGTTCATATGATGTAACAGCTAGCACACCCTACTCAATCTCAAAGCCAAACCTGGTCTGCTTCTTCATGTGGGTCACTGTTAGGCACCTCTCTGGAACTCACAAGGATCCCTAGCAGGGAAGAGCATGGCTAGCTGCTCTCACCTCTTTTCTCCTTGCATTTCAGTACCTTGATCCCTGATACAAAGAATCTTAATTCAAT... | pathogenic | 57,928 |
Mutation found at chromosome 2 position 227253559, gene COL4A3: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | TAGCTGCTCTCACCTCTTTTCTCCTTGCATTTCAGTACCTTGATCCCTGATACAAAGAATCTTAATTCAATTTATAAGAAGCTACTTATCACGAAAAAAGGCAAGGATTCTTAATCCACAGGTTTTCCATTTCTGATCATCTCACACAGCACATTATCCTCTGAGTTTTTGTAGTGTGCTGCTTCACAAAGCCAACCTGGTCTTATGCTAGTAAGTAAAAGATGACTATTTGTGTGCTCATTACACAGGGTCTTGCATGCATTTCTGTTAAGACCAGCCCAGGCGCATTGGTTCACACCTGTAAGCCCAGCACTTTGGGA... | TAGCTGCTCTCACCTCTTTTCTCCTTGCATTTCAGTACCTTGATCCCTGATACAAAGAATCTTAATTCAATTTATAAGAAGCTACTTATCACGAAAAAAGGCAAGGATTCTTAATCCACAGGTTTTCCATTTCTGATCATCTCACACAGCACATTATCCTCTGAGTTTTTGTAGTGTGCTGCTTCACAAAGCCAACCTGGTCTTATGCTAGTAAGTAAAAGATGACTATTTGTGTGCTCATTACACAGGGTCTTGCATGCATTTCTGTTAAGACCAGCCCAGGCGCATTGGTTCACACCTGTAAGCCCAGCACTTTGGGA... | pathogenic | 57,935 |
Does the chromosome 2 mutation at position 227253581 within gene COL4A3 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | CCTTGCATTTCAGTACCTTGATCCCTGATACAAAGAATCTTAATTCAATTTATAAGAAGCTACTTATCACGAAAAAAGGCAAGGATTCTTAATCCACAGGTTTTCCATTTCTGATCATCTCACACAGCACATTATCCTCTGAGTTTTTGTAGTGTGCTGCTTCACAAAGCCAACCTGGTCTTATGCTAGTAAGTAAAAGATGACTATTTGTGTGCTCATTACACAGGGTCTTGCATGCATTTCTGTTAAGACCAGCCCAGGCGCATTGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTT... | CCTTGCATTTCAGTACCTTGATCCCTGATACAAAGAATCTTAATTCAATTTATAAGAAGCTACTTATCACGAAAAAAGGCAAGGATTCTTAATCCACAGGTTTTCCATTTCTGATCATCTCACACAGCACATTATCCTCTGAGTTTTTGTAGTGTGCTGCTTCACAAAGCCAACCTGGTCTTATGCTAGTAAGTAAAAGATGACTATTTGTGTGCTCATTACACAGGGTCTTGCATGCATTTCTGTTAAGACCAGCCCAGGCGCATTGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTT... | pathogenic | 57,937 |
The genetic variant at chromosome 2, position 227253586, affecting gene COL4A3: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | CATTTCAGTACCTTGATCCCTGATACAAAGAATCTTAATTCAATTTATAAGAAGCTACTTATCACGAAAAAAGGCAAGGATTCTTAATCCACAGGTTTTCCATTTCTGATCATCTCACACAGCACATTATCCTCTGAGTTTTTGTAGTGTGCTGCTTCACAAAGCCAACCTGGTCTTATGCTAGTAAGTAAAAGATGACTATTTGTGTGCTCATTACACAGGGTCTTGCATGCATTTCTGTTAAGACCAGCCCAGGCGCATTGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGT... | CATTTCAGTACCTTGATCCCTGATACAAAGAATCTTAATTCAATTTATAAGAAGCTACTTATCACGAAAAAAGGCAAGGATTCTTAATCCACAGGTTTTCCATTTCTGATCATCTCACACAGCACATTATCCTCTGAGTTTTTGTAGTGTGCTGCTTCACAAAGCCAACCTGGTCTTATGCTAGTAAGTAAAAGATGACTATTTGTGTGCTCATTACACAGGGTCTTGCATGCATTTCTGTTAAGACCAGCCCAGGCGCATTGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGT... | pathogenic | 57,938 |
Evaluate the clinical significance of the mutation at chromosome 2, position 227254659 in gene COL4A3: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | CACACACACACTCATGCATGCACGCACCCTGAGAGATGGATAGGTTCTGGTTAAGTGAATTTTCCAATAGACAGTACATGGCAGAGCTGAGGTTTAAAGTGTTTTGATCTAGCTTTGGTCTAACAAGGGGAAGATCTGCATACTCAGTGGTGAAAAAGCAAGCAGATATGAGTTGAAATGATGGATCAGCCATCATTAGTGAAGAAACTATTCGCATTAGACTCATGTCACTAAATTACTAGTGAAGTCGGTAGCTGGAATTCTATTCTTAGATTCTCTATTAAGTATTGAATTTCAGAATCCTGAAATGCAGCTACCCA... | CACACACACACTCATGCATGCACGCACCCTGAGAGATGGATAGGTTCTGGTTAAGTGAATTTTCCAATAGACAGTACATGGCAGAGCTGAGGTTTAAAGTGTTTTGATCTAGCTTTGGTCTAACAAGGGGAAGATCTGCATACTCAGTGGTGAAAAAGCAAGCAGATATGAGTTGAAATGATGGATCAGCCATCATTAGTGAAGAAACTATTCGCATTAGACTCATGTCACTAAATTACTAGTGAAGTCGGTAGCTGGAATTCTATTCTTAGATTCTCTATTAAGTATTGAATTTCAGAATCCTGAAATGCAGCTACCCA... | pathogenic | 57,953 |
Gene mutation in COL4A3 at chromosome 2, position 227256027—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | GTTGTGTTAACACGAGGCACATTCATAGTTTGTAAACCCAGTTTATTGAACAGATAGAGGATTTGTCCCACTGTTGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCCTTAGTATTTACTTTGATGTGTGTTTTGTCTTAAGTTGTTTTTTTTTTTAAAGAAAGTAAAGGAATAAAAGAATGGC... | GTTGTGTTAACACGAGGCACATTCATAGTTTGTAAACCCAGTTTATTGAACAGATAGAGGATTTGTCCCACTGTTGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCCTTAGTATTTACTTTGATGTGTGTTTTGTCTTAAGTTGTTTTTTTTTTTAAAGAAAGTAAAGGAATAAAAGAATGGC... | pathogenic | 57,960 |
Does the variant impacting COL4A3 on chromosome 2, position 227256357, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | GCAGAGCAGCTATTGCTTTTAAGTCTTAATATTGGCTAAAATACAATAACATTTGACCGCAGAGATCATGAATACACTAGAGTTATTTTACGGCCACTCCTAGCTGAAATCCTTGCACTGCTGTACATGCACCCAATGCCACCCATCCTATGACTTATCTTCAGCATCAGCTTTTTTAGCATCTGTTTTTTAATTACTATTCATCAATAAGATTTCTCTCTTAGATGGCTCAGCACTGAAACATGTTTTTAAATGGCAGAATAACCAAAAGGGACAAATTAATAAAAATCAATGTAAGTAAAAAAATCAGTAATTCATAA... | GCAGAGCAGCTATTGCTTTTAAGTCTTAATATTGGCTAAAATACAATAACATTTGACCGCAGAGATCATGAATACACTAGAGTTATTTTACGGCCACTCCTAGCTGAAATCCTTGCACTGCTGTACATGCACCCAATGCCACCCATCCTATGACTTATCTTCAGCATCAGCTTTTTTAGCATCTGTTTTTTAATTACTATTCATCAATAAGATTTCTCTCTTAGATGGCTCAGCACTGAAACATGTTTTTAAATGGCAGAATAACCAAAAGGGACAAATTAATAAAAATCAATGTAAGTAAAAAAATCAGTAATTCATAA... | pathogenic | 57,966 |
Clinically, how would you classify the variant at chromosome 2, position 227261092, gene COL4A3: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | TCCTTCAAGATAAATATACTGAATGCTAAATGAAATCTACCTTTTCATTACATTTCAGAGGAATTCTTAGCACTCTTCACTGTATATTTTCTTATATTCAATTCCATATAATTCTGTTTGCAGCTTCTACTAACCTCAAAAGAAGTTCCACTTAGGAAGGAAATGGTTAAGAACACCAGCAGTAGGTCCACTGAGCATGTCAGAAACAATATTCCTCGATTCTTGCAGGTCAAGGATTCCCTGGAATTTAAAGAAACAATAAATACAGTATTTTTTGATGTGTGGGTTCCATACACTTCCAAAATGGAAATAAGTTCAGT... | TCCTTCAAGATAAATATACTGAATGCTAAATGAAATCTACCTTTTCATTACATTTCAGAGGAATTCTTAGCACTCTTCACTGTATATTTTCTTATATTCAATTCCATATAATTCTGTTTGCAGCTTCTACTAACCTCAAAAGAAGTTCCACTTAGGAAGGAAATGGTTAAGAACACCAGCAGTAGGTCCACTGAGCATGTCAGAAACAATATTCCTCGATTCTTGCAGGTCAAGGATTCCCTGGAATTTAAAGAAACAATAAATACAGTATTTTTTGATGTGTGGGTTCCATACACTTCCAAAATGGAAATAAGTTCAGT... | pathogenic | 57,984 |
Chromosome 2, position 227261103, gene COL4A3: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | AAATATACTGAATGCTAAATGAAATCTACCTTTTCATTACATTTCAGAGGAATTCTTAGCACTCTTCACTGTATATTTTCTTATATTCAATTCCATATAATTCTGTTTGCAGCTTCTACTAACCTCAAAAGAAGTTCCACTTAGGAAGGAAATGGTTAAGAACACCAGCAGTAGGTCCACTGAGCATGTCAGAAACAATATTCCTCGATTCTTGCAGGTCAAGGATTCCCTGGAATTTAAAGAAACAATAAATACAGTATTTTTTGATGTGTGGGTTCCATACACTTCCAAAATGGAAATAAGTTCAGTCCACCAGGACC... | AAATATACTGAATGCTAAATGAAATCTACCTTTTCATTACATTTCAGAGGAATTCTTAGCACTCTTCACTGTATATTTTCTTATATTCAATTCCATATAATTCTGTTTGCAGCTTCTACTAACCTCAAAAGAAGTTCCACTTAGGAAGGAAATGGTTAAGAACACCAGCAGTAGGTCCACTGAGCATGTCAGAAACAATATTCCTCGATTCTTGCAGGTCAAGGATTCCCTGGAATTTAAAGAAACAATAAATACAGTATTTTTTGATGTGTGGGTTCCATACACTTCCAAAATGGAAATAAGTTCAGTCCACCAGGACC... | pathogenic | 57,987 |
Mutation found at chromosome 2 position 227263781, gene COL4A3: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | AGAAATAGAAAACAATGTCATGGTAATGAGGTTGCTTGAAAATGACAGTTTTCATAACATATCATGAGTTGCATAAGGATACCTACATTACACTTTTTCTGTAAAGTTCTAAACTTTCGTCTCTGACTCATTAGAGTGTTTACCTTTTGAGAGAGGAAAAAGAGTTGGATCAGGGATGGTCCACAGGGACTCATCAAGTATAACTGTAGTGTGTTCTTTTTAACGAAAACAAAACTAAGAAAAAAGAGCAAAATTTGATAAACTACTGGGCATGTGCCCTGCCACTGATCATATTTTTCTCTATATGATGTTGTATATTA... | AGAAATAGAAAACAATGTCATGGTAATGAGGTTGCTTGAAAATGACAGTTTTCATAACATATCATGAGTTGCATAAGGATACCTACATTACACTTTTTCTGTAAAGTTCTAAACTTTCGTCTCTGACTCATTAGAGTGTTTACCTTTTGAGAGAGGAAAAAGAGTTGGATCAGGGATGGTCCACAGGGACTCATCAAGTATAACTGTAGTGTGTTCTTTTTAACGAAAACAAAACTAAGAAAAAAGAGCAAAATTTGATAAACTACTGGGCATGTGCCCTGCCACTGATCATATTTTTCTCTATATGATGTTGTATATTA... | pathogenic | 57,989 |
Is the variant located on chromosome 2 at position 227263889, gene COL4A3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | CTAAACTTTCGTCTCTGACTCATTAGAGTGTTTACCTTTTGAGAGAGGAAAAAGAGTTGGATCAGGGATGGTCCACAGGGACTCATCAAGTATAACTGTAGTGTGTTCTTTTTAACGAAAACAAAACTAAGAAAAAAGAGCAAAATTTGATAAACTACTGGGCATGTGCCCTGCCACTGATCATATTTTTCTCTATATGATGTTGTATATTATACTACTTCATAATTTTGAAAATTAATCAAAATAAAGCAGACTGCAGAACTATAAGTATACTATAATTTCACTATTAAAAAAATAGATACAGAAATGGATAAATATTA... | CTAAACTTTCGTCTCTGACTCATTAGAGTGTTTACCTTTTGAGAGAGGAAAAAGAGTTGGATCAGGGATGGTCCACAGGGACTCATCAAGTATAACTGTAGTGTGTTCTTTTTAACGAAAACAAAACTAAGAAAAAAGAGCAAAATTTGATAAACTACTGGGCATGTGCCCTGCCACTGATCATATTTTTCTCTATATGATGTTGTATATTATACTACTTCATAATTTTGAAAATTAATCAAAATAAAGCAGACTGCAGAACTATAAGTATACTATAATTTCACTATTAAAAAAATAGATACAGAAATGGATAAATATTA... | pathogenic | 57,996 |
Variant on chromosome 2, at position 227266505, affecting COL4A3: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | GTGCCGCATGGGTGTAAGGCAACATGCTATGAGGTAAAGGGGTCAGAGATGACAGAGATGTGGCCCAATGGACTTGAAGTGGTGCTCAGAGGTCCTGACACAGGGAGCCTTTCCTTCGCATCCCTCTAGAGAGCCACTTAGCATTCTGTGTTGGCTCATAGGTACAATAGGTCCTCACAAACATATAGATCACACTTTATATTTTAACATACCTTTTCTGGGGCCAGGTGTGGTGGTGTGCCTATAATCCCAGCTTCTTCCAAGTCTCTTTTAAGATGGAGGTTTAGTATCCTCTTTTTTTCTATGTCAAGGCTGACATA... | GTGCCGCATGGGTGTAAGGCAACATGCTATGAGGTAAAGGGGTCAGAGATGACAGAGATGTGGCCCAATGGACTTGAAGTGGTGCTCAGAGGTCCTGACACAGGGAGCCTTTCCTTCGCATCCCTCTAGAGAGCCACTTAGCATTCTGTGTTGGCTCATAGGTACAATAGGTCCTCACAAACATATAGATCACACTTTATATTTTAACATACCTTTTCTGGGGCCAGGTGTGGTGGTGTGCCTATAATCCCAGCTTCTTCCAAGTCTCTTTTAAGATGGAGGTTTAGTATCCTCTTTTTTTCTATGTCAAGGCTGACATA... | pathogenic | 58,010 |
Clinical classification of chromosome 2, position 227273006, gene COL4A3: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | TATTTAGCAACTTTACCCTCCCTATAAATGAAGTACTCTGAAGTTAAGAGATAAAGTGATTTCTTTTCCAAAAATGGTTGGCCGCTCAGCACAGTTCATCACTCTAACTGCAGAATGAAACATCTTCAAATTAGCAGGAATAACCCAAGCAAATAGTTATAGTATTTTGACAGAATAAATAGGTAGCATTCAGTGATTTCAACCAATCAAAATTCTACATTGATAATGACCCCATCTCATACACAAATTACAGTTCCATATTTGTATCAAATGAGTCTATGGAAAAGTTCAGAAAATGATGTATAGTAGAAAGTTTAGTA... | TATTTAGCAACTTTACCCTCCCTATAAATGAAGTACTCTGAAGTTAAGAGATAAAGTGATTTCTTTTCCAAAAATGGTTGGCCGCTCAGCACAGTTCATCACTCTAACTGCAGAATGAAACATCTTCAAATTAGCAGGAATAACCCAAGCAAATAGTTATAGTATTTTGACAGAATAAATAGGTAGCATTCAGTGATTTCAACCAATCAAAATTCTACATTGATAATGACCCCATCTCATACACAAATTACAGTTCCATATTTGTATCAAATGAGTCTATGGAAAAGTTCAGAAAATGATGTATAGTAGAAAGTTTAGTA... | pathogenic | 58,031 |
Variant on chromosome 2, at position 227273034, affecting COL4A3: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | TGAAGTACTCTGAAGTTAAGAGATAAAGTGATTTCTTTTCCAAAAATGGTTGGCCGCTCAGCACAGTTCATCACTCTAACTGCAGAATGAAACATCTTCAAATTAGCAGGAATAACCCAAGCAAATAGTTATAGTATTTTGACAGAATAAATAGGTAGCATTCAGTGATTTCAACCAATCAAAATTCTACATTGATAATGACCCCATCTCATACACAAATTACAGTTCCATATTTGTATCAAATGAGTCTATGGAAAAGTTCAGAAAATGATGTATAGTAGAAAGTTTAGTAAATATTTTGGGGCGATGTCCATATTTTT... | TGAAGTACTCTGAAGTTAAGAGATAAAGTGATTTCTTTTCCAAAAATGGTTGGCCGCTCAGCACAGTTCATCACTCTAACTGCAGAATGAAACATCTTCAAATTAGCAGGAATAACCCAAGCAAATAGTTATAGTATTTTGACAGAATAAATAGGTAGCATTCAGTGATTTCAACCAATCAAAATTCTACATTGATAATGACCCCATCTCATACACAAATTACAGTTCCATATTTGTATCAAATGAGTCTATGGAAAAGTTCAGAAAATGATGTATAGTAGAAAGTTTAGTAAATATTTTGGGGCGATGTCCATATTTTT... | pathogenic | 58,032 |
Does the variant on chromosome 2 at location 227276389 affecting gene COL4A3 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | TCAGTAAAACTTTTTGAGTGCACAACCTTACATTATATGTTATAAATGTATGCATCATTTCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAG... | TCAGTAAAACTTTTTGAGTGCACAACCTTACATTATATGTTATAAATGTATGCATCATTTCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAG... | pathogenic | 58,042 |
Does the variant on chromosome 2 at location 227276390 affecting gene COL4A3 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Alport_syndrome'] | CAGTAAAACTTTTTGAGTGCACAACCTTACATTATATGTTATAAATGTATGCATCATTTCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAGG... | CAGTAAAACTTTTTGAGTGCACAACCTTACATTATATGTTATAAATGTATGCATCATTTCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAGG... | pathogenic | 58,043 |
A genetic variant on chromosome 2, position 227276410, affects the gene COL4A3. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | ACAACCTTACATTATATGTTATAAATGTATGCATCATTTCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAGGCGAATTTTTATATTTTTAGT... | ACAACCTTACATTATATGTTATAAATGTATGCATCATTTCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAGGCGAATTTTTATATTTTTAGT... | pathogenic | 58,045 |
A genetic variant on chromosome 2, position 227276443, affects the gene COL4A3. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic | TCATTTCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAGGCGAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGG... | TCATTTCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAGGCGAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGG... | pathogenic | 58,046 |
Variant on chromosome 2, at position 227276448, affecting COL4A3: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | TCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAGGCGAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTG... | TCTGTCCACACATGTATGTAAATCTTATTTTATGACTTTCTCTATATATTAAATAAACAAATAAATATTTATGTTTATCTGCACCTTACTTTGGAGCTGCTTTTTTTTTTTTTGTCTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGAGCAATGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAAATTCAAGTTACTCTCCTGTCTCATCCTCCCAAGTAGCTGGGATTGCAGGCACCTGCCACCATGCCAGGCGAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTG... | pathogenic | 58,047 |
Does the variant impacting COL4A3 on chromosome 2, position 227277450, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | AACTCCTGACCTCAAGTGATCCACCCGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGTGTGAACCACCACACCCAGCCTCTTCTGTGATTTCTAAGTGTGAATCTTTACTAAAGGATTCCATTGTCATAAAATATATTATTACCAAAATTGTCCCATCACATACTGTAAACCTATTTTTTTCTATAAATAAATGACTATATGGACAACACTTATCACTAAACATGTTTTTAATGTTTGCCACTGTGGTCAGAATATTATCTCGTGTCCTTATCTGCTAGGTAGGCATTCTTTCCCCCGCGACAGATGAGGAACTTATCA... | AACTCCTGACCTCAAGTGATCCACCCGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGTGTGAACCACCACACCCAGCCTCTTCTGTGATTTCTAAGTGTGAATCTTTACTAAAGGATTCCATTGTCATAAAATATATTATTACCAAAATTGTCCCATCACATACTGTAAACCTATTTTTTTCTATAAATAAATGACTATATGGACAACACTTATCACTAAACATGTTTTTAATGTTTGCCACTGTGGTCAGAATATTATCTCGTGTCCTTATCTGCTAGGTAGGCATTCTTTCCCCCGCGACAGATGAGGAACTTATCA... | pathogenic | 58,051 |
Gene COL4A3 variant at chromosome 2, position 227279826—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alport_syndrome', 'Autosomal_dominant_Alport_syndrome'] | TCACTTGAGGTCAGGAGTTCGATACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAACATTAGCCGGGTGTGGTGGCATGTGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGACTCTGTCTCAAAAAAAAAAATGTTTTCCAAGAGCCACAAATGGAAAAAAATCTTATAATAATGTTAGGTGAATTAATTGAATTTTTTAAAACACAGAGAAAACAACTAGAAGGAAACTCACCAAAATGGTAATAGTGAATCTTGATTGTCAGATTTTAAAGACATTTTTGATACTTCTCAGTAAAT... | TCACTTGAGGTCAGGAGTTCGATACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAACATTAGCCGGGTGTGGTGGCATGTGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGACTCTGTCTCAAAAAAAAAAATGTTTTCCAAGAGCCACAAATGGAAAAAAATCTTATAATAATGTTAGGTGAATTAATTGAATTTTTTAAAACACAGAGAAAACAACTAGAAGGAAACTCACCAAAATGGTAATAGTGAATCTTGATTGTCAGATTTTAAAGACATTTTTGATACTTCTCAGTAAAT... | pathogenic | 58,059 |
Gene COL4A3 variant at chromosome 2, position 227280526—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | CATCAGTGTTTATTATACATTAATTTTGCCCAAATATGAGAATATTGATTTCAATTTATGAGTATTTGAAATGGAAAACATAATCTCATTTCTCCTGGAGTCTTAAGAATGGCTTTGAGTCCAATTTCTTGGTTTTCTTCCTAATGATCTGTGAAGTAAGGGAGTCTGCCTCACATTTGTACTTCATTCTTCTTGGACCCTGCATTAATAAATTACATCCCTACTTTGTAACTCTAGGTATTGACTCTCTGGAAGAAGACTGTTGACTGTGGGAACCAGAACTAGCCCAAGAGCTCCTTGAAAGTGGAGATTTACAATTT... | CATCAGTGTTTATTATACATTAATTTTGCCCAAATATGAGAATATTGATTTCAATTTATGAGTATTTGAAATGGAAAACATAATCTCATTTCTCCTGGAGTCTTAAGAATGGCTTTGAGTCCAATTTCTTGGTTTTCTTCCTAATGATCTGTGAAGTAAGGGAGTCTGCCTCACATTTGTACTTCATTCTTCTTGGACCCTGCATTAATAAATTACATCCCTACTTTGTAACTCTAGGTATTGACTCTCTGGAAGAAGACTGTTGACTGTGGGAACCAGAACTAGCCCAAGAGCTCCTTGAAAGTGGAGATTTACAATTT... | pathogenic | 58,066 |
Is the genetic variant on chromosome 2, position 227280529, gene COL4A3, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria', 'Hematuria,_benign_familial,_2'] | CAGTGTTTATTATACATTAATTTTGCCCAAATATGAGAATATTGATTTCAATTTATGAGTATTTGAAATGGAAAACATAATCTCATTTCTCCTGGAGTCTTAAGAATGGCTTTGAGTCCAATTTCTTGGTTTTCTTCCTAATGATCTGTGAAGTAAGGGAGTCTGCCTCACATTTGTACTTCATTCTTCTTGGACCCTGCATTAATAAATTACATCCCTACTTTGTAACTCTAGGTATTGACTCTCTGGAAGAAGACTGTTGACTGTGGGAACCAGAACTAGCCCAAGAGCTCCTTGAAAGTGGAGATTTACAATTTCAC... | CAGTGTTTATTATACATTAATTTTGCCCAAATATGAGAATATTGATTTCAATTTATGAGTATTTGAAATGGAAAACATAATCTCATTTCTCCTGGAGTCTTAAGAATGGCTTTGAGTCCAATTTCTTGGTTTTCTTCCTAATGATCTGTGAAGTAAGGGAGTCTGCCTCACATTTGTACTTCATTCTTCTTGGACCCTGCATTAATAAATTACATCCCTACTTTGTAACTCTAGGTATTGACTCTCTGGAAGAAGACTGTTGACTGTGGGAACCAGAACTAGCCCAAGAGCTCCTTGAAAGTGGAGATTTACAATTTCAC... | pathogenic | 58,067 |
Determine whether the variant at chromosome 2, position 227280930, in gene COL4A3 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'COL4A3-related_disorder', 'Hematuria,_benign_familial,_2'] | GCCTTGCTTCACCGTGGCTTCCTCTTCTGAACCAGAGATCACAGAAAGTGTGTTGACCCCTTTCTCAAGTCACCTACTATAAATGCATAAGAAGTTAATCCCTTGCATGCAATGGATGCTATAGGGCATTAAGACTTAATTCTCTTAAGCAACCCCTGTTGAGAAAGGCTACCTGGGGTGCTGAAAACGTTCTATATCTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGTAATTGGCACTATCTCAGCTCAACACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTC... | GCCTTGCTTCACCGTGGCTTCCTCTTCTGAACCAGAGATCACAGAAAGTGTGTTGACCCCTTTCTCAAGTCACCTACTATAAATGCATAAGAAGTTAATCCCTTGCATGCAATGGATGCTATAGGGCATTAAGACTTAATTCTCTTAAGCAACCCCTGTTGAGAAAGGCTACCTGGGGTGCTGAAAACGTTCTATATCTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGTAATTGGCACTATCTCAGCTCAACACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTC... | pathogenic | 58,077 |
Variant in COL4A3, chromosome 2, position 227281005—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | ACTATAAATGCATAAGAAGTTAATCCCTTGCATGCAATGGATGCTATAGGGCATTAAGACTTAATTCTCTTAAGCAACCCCTGTTGAGAAAGGCTACCTGGGGTGCTGAAAACGTTCTATATCTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGTAATTGGCACTATCTCAGCTCAACACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCACCATGCCTGGCTAGTTTTTTTGTTGTTGTTTTTTTTGTTGTTGTT... | ACTATAAATGCATAAGAAGTTAATCCCTTGCATGCAATGGATGCTATAGGGCATTAAGACTTAATTCTCTTAAGCAACCCCTGTTGAGAAAGGCTACCTGGGGTGCTGAAAACGTTCTATATCTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGTAATTGGCACTATCTCAGCTCAACACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCACCATGCCTGGCTAGTTTTTTTGTTGTTGTTTTTTTTGTTGTTGTT... | pathogenic | 58,079 |
Clinical significance of chromosome 2, position 227282410, gene COL4A3: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | GAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAGCAAACTGAATGTGAAGGTGTTCTAGGCATGAAGAATT... | GAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAGCAAACTGAATGTGAAGGTGTTCTAGGCATGAAGAATT... | pathogenic | 58,088 |
The mutation impacting COL4A3 on chromosome 2 at position 227282495: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria', 'Nephrotic_syndrome'] | CAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAGCAAACTGAATGTGAAGGTGTTCTAGGCATGAAGAATTCTCCCATCCAATGTTCCTGCCCTACCTTTCTTCCTTCTTTCCTTCTTCCTTCCTTCTTTTTTAATGAGTGCCCTCTAGAAAAGGC... | CAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAGCAAACTGAATGTGAAGGTGTTCTAGGCATGAAGAATTCTCCCATCCAATGTTCCTGCCCTACCTTTCTTCCTTCTTTCCTTCTTCCTTCCTTCTTTTTTAATGAGTGCCCTCTAGAAAAGGC... | pathogenic | 58,089 |
For chromosome 2, position 227282497, gene COL4A3: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | GCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAGCAAACTGAATGTGAAGGTGTTCTAGGCATGAAGAATTCTCCCATCCAATGTTCCTGCCCTACCTTTCTTCCTTCTTTCCTTCTTCCTTCCTTCTTTTTTAATGAGTGCCCTCTAGAAAAGGCAT... | GCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAGCAAACTGAATGTGAAGGTGTTCTAGGCATGAAGAATTCTCCCATCCAATGTTCCTGCCCTACCTTTCTTCCTTCTTTCCTTCTTCCTTCCTTCTTTTTTAATGAGTGCCCTCTAGAAAAGGCAT... | pathogenic | 58,090 |
Variant at chromosome position 227284229, chromosome 2, gene COL4A3: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Alport_syndrome', 'Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2', 'Inborn_genetic_diseases'] | AGAATCACTTGAACCAGGGAGGCGGAGGGTACAGTGAGCCGAAATCGCCCCACTGCAATCCAGCCTAGAAGACAGAGGGAGATTCCATCTTAAAAATATATATATATATATATATATATATTTCTGAAGTTAGTAGGGGAAAGCATTTGTGGGTTAATTAATTCATTCATTTATTCGTACACAGGCAGAAGAGGTAAAACGGGGCCAAAGGGAGACCCAGGAATTCCAGGCTTGGATAGATCAGGATTTCCTGGAGAAACTGGATCACCAGGAATTCCAGGTCATCAAGGTGAAATGGGACCACTGGGTCAAAGAGGATA... | AGAATCACTTGAACCAGGGAGGCGGAGGGTACAGTGAGCCGAAATCGCCCCACTGCAATCCAGCCTAGAAGACAGAGGGAGATTCCATCTTAAAAATATATATATATATATATATATATATTTCTGAAGTTAGTAGGGGAAAGCATTTGTGGGTTAATTAATTCATTCATTTATTCGTACACAGGCAGAAGAGGTAAAACGGGGCCAAAGGGAGACCCAGGAATTCCAGGCTTGGATAGATCAGGATTTCCTGGAGAAACTGGATCACCAGGAATTCCAGGTCATCAAGGTGAAATGGGACCACTGGGTCAAAGAGGATA... | pathogenic | 58,102 |
A genetic alteration at chromosome 2, position 227284298, in gene COL4A3—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | AGACAGAGGGAGATTCCATCTTAAAAATATATATATATATATATATATATATTTCTGAAGTTAGTAGGGGAAAGCATTTGTGGGTTAATTAATTCATTCATTTATTCGTACACAGGCAGAAGAGGTAAAACGGGGCCAAAGGGAGACCCAGGAATTCCAGGCTTGGATAGATCAGGATTTCCTGGAGAAACTGGATCACCAGGAATTCCAGGTCATCAAGGTGAAATGGGACCACTGGGTCAAAGAGGATATCCAGGAAATCCGGGAATTTTAGGGCCACCAGGTATCCTTTTGTGTGTTTCTATTTTTCTTCTTATTTC... | AGACAGAGGGAGATTCCATCTTAAAAATATATATATATATATATATATATATTTCTGAAGTTAGTAGGGGAAAGCATTTGTGGGTTAATTAATTCATTCATTTATTCGTACACAGGCAGAAGAGGTAAAACGGGGCCAAAGGGAGACCCAGGAATTCCAGGCTTGGATAGATCAGGATTTCCTGGAGAAACTGGATCACCAGGAATTCCAGGTCATCAAGGTGAAATGGGACCACTGGGTCAAAGAGGATATCCAGGAAATCCGGGAATTTTAGGGCCACCAGGTATCCTTTTGTGTGTTTCTATTTTTCTTCTTATTTC... | pathogenic | 58,105 |
Is the variant located on chromosome 2 at position 227289181, gene COL4A3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | CTTTTAAAAATGTAAAAACCGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATAGTGAAACCCCAACTCTACTAAAAATACAAAAATTAGCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCACTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCATGGCGAGAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAATGTAAAACC... | CTTTTAAAAATGTAAAAACCGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATAGTGAAACCCCAACTCTACTAAAAATACAAAAATTAGCGGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCACTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCATGGCGAGAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAATGTAAAACC... | pathogenic | 58,112 |
Determine if the mutation at chromosome 2, position 227290042 in gene COL4A3 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alport_syndrome'] | CTTGAGAAAAAGCACAAAGGCAGGCTATAGACAGATTGCAGAATGCTTCATGCTGCCGAAAGAGTTTGCAATTTACTCTGTAAGTAATAGAGATTCAGTGACTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCCGGCTGGACTGTAAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCAAGCCAGCTACTTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGT... | CTTGAGAAAAAGCACAAAGGCAGGCTATAGACAGATTGCAGAATGCTTCATGCTGCCGAAAGAGTTTGCAATTTACTCTGTAAGTAATAGAGATTCAGTGACTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCCGGCTGGACTGTAAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCAAGCCAGCTACTTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGT... | pathogenic | 58,118 |
A genetic variant at chromosome 2, position 227290085, affecting gene COL4A3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | TGCTTCATGCTGCCGAAAGAGTTTGCAATTTACTCTGTAAGTAATAGAGATTCAGTGACTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCCGGCTGGACTGTAAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCAAGCCAGCTACTTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGTTCTGCCCACCTCAGCCTCCC... | TGCTTCATGCTGCCGAAAGAGTTTGCAATTTACTCTGTAAGTAATAGAGATTCAGTGACTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCCGGCTGGACTGTAAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCAAGCCAGCTACTTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGTTCTGCCCACCTCAGCCTCCC... | pathogenic | 58,121 |
Does the genetic variant at chromosome 2, position 227293316, impacting gene COL4A3, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | AAAAAACACTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTTTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACAAAAAAA... | AAAAAACACTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTTTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACAAAAAAA... | pathogenic | 58,136 |
Variant at chromosome 2, position 227294944, gene COL4A3: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCAGTCACAGAAATCCTGTGCTAAGAAGGGCCTCCACACTTGGTCTGACGCTATGCTGTTGCTGTCTTGAAATTCACTTTAAAAAGTTTTAAGGGAAACTGCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATA... | GCAGTCACAGAAATCCTGTGCTAAGAAGGGCCTCCACACTTGGTCTGACGCTATGCTGTTGCTGTCTTGAAATTCACTTTAAAAAGTTTTAAGGGAAACTGCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATA... | benign | 58,141 |
Is the chromosome 2, position 227295295 variant in COL4A3 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Alport_syndrome', 'Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'COL4A3-related_disorder', 'Hematuria,_benign_familial,_2', 'Macroscopic_hematuria', 'Microscopic_hematuria', 'Moderate_albuminuria', 'Proteinuria'] | CCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCCAGGTAAGGCTTGAGTTTACAATTCTAAAAGCTGGAAGCATTACTCAGAGTATAGCCCTCCTGAAATCATTGTGGTAAACAGAAAGCTATTTATACTTTTATGCTGCAGTTGCTTTTATTCAACTTTGAACTTCAAATTCTAACACACTAAGAGAATTCATTAAGAGAGCCCAATTTTACTAATCAGCCCATTTGGACTGAAATACAAAAATATGTTCCTATAAAAAACACTTTTGAAGAACTGCCTCAACA... | CCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCCAGGTAAGGCTTGAGTTTACAATTCTAAAAGCTGGAAGCATTACTCAGAGTATAGCCCTCCTGAAATCATTGTGGTAAACAGAAAGCTATTTATACTTTTATGCTGCAGTTGCTTTTATTCAACTTTGAACTTCAAATTCTAACACACTAAGAGAATTCATTAAGAGAGCCCAATTTTACTAATCAGCCCATTTGGACTGAAATACAAAAATATGTTCCTATAAAAAACACTTTTGAAGAACTGCCTCAACA... | pathogenic | 58,150 |
Does the variant impacting COL4A3 on chromosome 2, position 227297776, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | CCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCCTATGAATGGGAGCATTTCATTAGCAAAGAGGCCTAACACACTGAAGGG... | CCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCCTATGAATGGGAGCATTTCATTAGCAAAGAGGCCTAACACACTGAAGGG... | pathogenic | 58,159 |
Considering the variant on chromosome 2, location 227298697, involving gene COL4A3, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TGCCATGCAAATACAGTATTACAAAGCTTGGAGTGAACTGAAGTCATCTAAGCACTTTCTTTTAAAAGCATAAATTACAGGCATTAAAAAGCTAAAGGATGTGAATAGACATAGGGCTAGATCGTCAATATTCATCAATTTTATTTTCATTGTAAGTCTTTACTATATAATAACTCCCCAAGCCCTCCCCTGAGCTATTAGCCTCCCTCTCCTTCTCCCTCTCCTTCTGCACATCTATCTTCCGTTTTCATGCCATTTACTGCTGCTAGAATAACACAGAGATGGGAGAGCAGAGGGAGACATTATTTGCAATTCATACA... | TGCCATGCAAATACAGTATTACAAAGCTTGGAGTGAACTGAAGTCATCTAAGCACTTTCTTTTAAAAGCATAAATTACAGGCATTAAAAAGCTAAAGGATGTGAATAGACATAGGGCTAGATCGTCAATATTCATCAATTTTATTTTCATTGTAAGTCTTTACTATATAATAACTCCCCAAGCCCTCCCCTGAGCTATTAGCCTCCCTCTCCTTCTCCCTCTCCTTCTGCACATCTATCTTCCGTTTTCATGCCATTTACTGCTGCTAGAATAACACAGAGATGGGAGAGCAGAGGGAGACATTATTTGCAATTCATACA... | pathogenic | 58,172 |
Gene COL4A3 variant at chromosome 2, position 227307800—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alport_syndrome', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | GAACATATGCTGTATGTGTCAGTTTGATACCTGGATCAACATCTACCTTCTGCAGATGTTTCAAAGCACTCTTCTGGAAACTACCTCGATATCCAAATCTTCTATTTTTAGGATTGCTGACTTTGTTAAAGCAAGAAAAAATTCTAAATGTGCTTTCTGAATTTACTGACATATATCATGCTCAGATCTACTATATTAAAATGGTAAAGACTATAGACTTAAATTTTTAAAAATTCAAATATGATGTTAATATAATACTAATTGCATAACTACATGTGATTTAATATTGTCATAGGTGCACAGTAGAGTGCTATTAATCA... | GAACATATGCTGTATGTGTCAGTTTGATACCTGGATCAACATCTACCTTCTGCAGATGTTTCAAAGCACTCTTCTGGAAACTACCTCGATATCCAAATCTTCTATTTTTAGGATTGCTGACTTTGTTAAAGCAAGAAAAAATTCTAAATGTGCTTTCTGAATTTACTGACATATATCATGCTCAGATCTACTATATTAAAATGGTAAAGACTATAGACTTAAATTTTTAAAAATTCAAATATGATGTTAATATAATACTAATTGCATAACTACATGTGATTTAATATTGTCATAGGTGCACAGTAGAGTGCTATTAATCA... | pathogenic | 58,201 |
Chromosome 2, position 227307867, gene COL4A3: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | ACTCTTCTGGAAACTACCTCGATATCCAAATCTTCTATTTTTAGGATTGCTGACTTTGTTAAAGCAAGAAAAAATTCTAAATGTGCTTTCTGAATTTACTGACATATATCATGCTCAGATCTACTATATTAAAATGGTAAAGACTATAGACTTAAATTTTTAAAAATTCAAATATGATGTTAATATAATACTAATTGCATAACTACATGTGATTTAATATTGTCATAGGTGCACAGTAGAGTGCTATTAATCATTCAACTTTCCTTAAAGTGTGGTTTTTGAAGTGATAAACCATTCTTATTAAGAATTCTATTAATTTA... | ACTCTTCTGGAAACTACCTCGATATCCAAATCTTCTATTTTTAGGATTGCTGACTTTGTTAAAGCAAGAAAAAATTCTAAATGTGCTTTCTGAATTTACTGACATATATCATGCTCAGATCTACTATATTAAAATGGTAAAGACTATAGACTTAAATTTTTAAAAATTCAAATATGATGTTAATATAATACTAATTGCATAACTACATGTGATTTAATATTGTCATAGGTGCACAGTAGAGTGCTATTAATCATTCAACTTTCCTTAAAGTGTGGTTTTTGAAGTGATAAACCATTCTTATTAAGAATTCTATTAATTTA... | pathogenic | 58,207 |
Gene COL4A3 variant at chromosome 2, position 227308961—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | TGAGGAAGTGGTAGCCAATGCCAATACCATAAATAATAGCCGTTCAATGAAAGAAAGGAGAAGGAAGTTAAAGAGGAATGGAAGAGAGGATAGCTCACTGGTTCTCATCTAGAACACGACAAGTGTGGATTAGCCTTGTCCAAATCCATACTCCAAAGTATAGAAAGTTTTTCTCCACAGAGAGAAAAATGTACAGAAACGATTTACTTTGTTTTTAACTCATATAAATAAACTAACCCTTATTACAGTGAAAAAAAAAGCCTTCTCTTCTTACTTGACTTACAAATTGATCAAAACTTCCTTGAAGTTTGAACCTTTAA... | TGAGGAAGTGGTAGCCAATGCCAATACCATAAATAATAGCCGTTCAATGAAAGAAAGGAGAAGGAAGTTAAAGAGGAATGGAAGAGAGGATAGCTCACTGGTTCTCATCTAGAACACGACAAGTGTGGATTAGCCTTGTCCAAATCCATACTCCAAAGTATAGAAAGTTTTTCTCCACAGAGAGAAAAATGTACAGAAACGATTTACTTTGTTTTTAACTCATATAAATAAACTAACCCTTATTACAGTGAAAAAAAAAGCCTTCTCTTCTTACTTGACTTACAAATTGATCAAAACTTCCTTGAAGTTTGAACCTTTAA... | pathogenic | 58,214 |
Clinically, how would you classify the variant at chromosome 2, position 227310818, gene COL4A3: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | GATAACTCTTTTGTGTTGTCTTTGTCCAGCTTTTGCTGCAGGTTACATTTAAATTAGCTTCTCTCTAGTAACGATGCTGAAAATAACTTTAACTTACTGAAAGTGATACTCAGTCTGATGTTTCATTAGGAACTCTTGGCAGCTGCCTGCAGCGATTTACCACAATGCCATTCTTATTCTGCAATGTCAATGATGTATGTAATTTTGCATCTCGAAATGATTATTCATACTGGCTGTCAACACCAGCTCTGATGCCAATGAACATGGCTCCCATTACTGGCAGAGCCCTTGAGCCTTATATAAGCAGGTAAAAATCCAAT... | GATAACTCTTTTGTGTTGTCTTTGTCCAGCTTTTGCTGCAGGTTACATTTAAATTAGCTTCTCTCTAGTAACGATGCTGAAAATAACTTTAACTTACTGAAAGTGATACTCAGTCTGATGTTTCATTAGGAACTCTTGGCAGCTGCCTGCAGCGATTTACCACAATGCCATTCTTATTCTGCAATGTCAATGATGTATGTAATTTTGCATCTCGAAATGATTATTCATACTGGCTGTCAACACCAGCTCTGATGCCAATGAACATGGCTCCCATTACTGGCAGAGCCCTTGAGCCTTATATAAGCAGGTAAAAATCCAAT... | pathogenic | 58,226 |
Variant chromosome 2, position 227310822, gene COL4A3: benign or pathogenic? Disease(s)? | pathogenic; ['Alport_syndrome', 'Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | ACTCTTTTGTGTTGTCTTTGTCCAGCTTTTGCTGCAGGTTACATTTAAATTAGCTTCTCTCTAGTAACGATGCTGAAAATAACTTTAACTTACTGAAAGTGATACTCAGTCTGATGTTTCATTAGGAACTCTTGGCAGCTGCCTGCAGCGATTTACCACAATGCCATTCTTATTCTGCAATGTCAATGATGTATGTAATTTTGCATCTCGAAATGATTATTCATACTGGCTGTCAACACCAGCTCTGATGCCAATGAACATGGCTCCCATTACTGGCAGAGCCCTTGAGCCTTATATAAGCAGGTAAAAATCCAATCCCC... | ACTCTTTTGTGTTGTCTTTGTCCAGCTTTTGCTGCAGGTTACATTTAAATTAGCTTCTCTCTAGTAACGATGCTGAAAATAACTTTAACTTACTGAAAGTGATACTCAGTCTGATGTTTCATTAGGAACTCTTGGCAGCTGCCTGCAGCGATTTACCACAATGCCATTCTTATTCTGCAATGTCAATGATGTATGTAATTTTGCATCTCGAAATGATTATTCATACTGGCTGTCAACACCAGCTCTGATGCCAATGAACATGGCTCCCATTACTGGCAGAGCCCTTGAGCCTTATATAAGCAGGTAAAAATCCAATCCCC... | pathogenic | 58,227 |
Assess the variant on chromosome 2, position 227310843, impacting COL4A3: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alport_syndrome_3b,_autosomal_recessive', 'Autosomal_dominant_Alport_syndrome', 'Hematuria,_benign_familial,_2'] | CCAGCTTTTGCTGCAGGTTACATTTAAATTAGCTTCTCTCTAGTAACGATGCTGAAAATAACTTTAACTTACTGAAAGTGATACTCAGTCTGATGTTTCATTAGGAACTCTTGGCAGCTGCCTGCAGCGATTTACCACAATGCCATTCTTATTCTGCAATGTCAATGATGTATGTAATTTTGCATCTCGAAATGATTATTCATACTGGCTGTCAACACCAGCTCTGATGCCAATGAACATGGCTCCCATTACTGGCAGAGCCCTTGAGCCTTATATAAGCAGGTAAAAATCCAATCCCCTAGTTTTACAATGGGACCAAG... | CCAGCTTTTGCTGCAGGTTACATTTAAATTAGCTTCTCTCTAGTAACGATGCTGAAAATAACTTTAACTTACTGAAAGTGATACTCAGTCTGATGTTTCATTAGGAACTCTTGGCAGCTGCCTGCAGCGATTTACCACAATGCCATTCTTATTCTGCAATGTCAATGATGTATGTAATTTTGCATCTCGAAATGATTATTCATACTGGCTGTCAACACCAGCTCTGATGCCAATGAACATGGCTCCCATTACTGGCAGAGCCCTTGAGCCTTATATAAGCAGGTAAAAATCCAATCCCCTAGTTTTACAATGGGACCAAG... | pathogenic | 58,230 |
Is the genetic change at chromosome 2, position 227695981, within gene SLC19A3 (solute carrier family 19 member 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | TAAAGGCATGCGAATGGCAAACAGGTATATGAAAAGGTGCTCAACATCATTGATAAGAGAATTATAAATCAAAACTACAATGAGATATTATCTCACTTCAATTTGAATGGCTTTTATCCAAAAAACAAGCAATAAATGCTGATGAGAATGTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTTCTCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGATACGGGGTTTAATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACC... | TAAAGGCATGCGAATGGCAAACAGGTATATGAAAAGGTGCTCAACATCATTGATAAGAGAATTATAAATCAAAACTACAATGAGATATTATCTCACTTCAATTTGAATGGCTTTTATCCAAAAAACAAGCAATAAATGCTGATGAGAATGTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTTCTCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGATACGGGGTTTAATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACC... | pathogenic | 58,320 |
Does the variant on chromosome 2 at location 227696084 affecting gene SLC19A3 (solute carrier family 19 member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGAATGGCTTTTATCCAAAAAACAAGCAATAAATGCTGATGAGAATGTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTTCTCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGATACGGGGTTTAATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACTGTGCCCAGCCGTGAATATTTTTTTTTAATGCAAAGAAATGATATAATCCTACTTTAACA... | TGAATGGCTTTTATCCAAAAAACAAGCAATAAATGCTGATGAGAATGTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTTCTCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGATACGGGGTTTAATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACTGTGCCCAGCCGTGAATATTTTTTTTTAATGCAAAGAAATGATATAATCCTACTTTAACA... | benign | 58,323 |
Variant at chromosome position 227696118, chromosome 2, gene SLC19A3 (solute carrier family 19 member 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GCTGATGAGAATGTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTTCTCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGATACGGGGTTTAATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACTGTGCCCAGCCGTGAATATTTTTTTTTAATGCAAAGAAATGATATAATCCTACTTTAACAAAATCTTCACATTTAAAAAAAAGCAACCTAAGAT... | GCTGATGAGAATGTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCAGGGATTACAGGTTCTCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGATACGGGGTTTAATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACTGTGCCCAGCCGTGAATATTTTTTTTTAATGCAAAGAAATGATATAATCCTACTTTAACAAAATCTTCACATTTAAAAAAAAGCAACCTAAGAT... | benign | 58,325 |
Is the genetic mutation found on chromosome 2 at position 227699088, within the gene SLC19A3 (solute carrier family 19 member 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | GGGTGACAGAGTAAGACTCTGTCTAAAATAAATAAATAAACAAAAGGTATTTAGATTTCAAATTACTACATTGACATATGACTAACTTTCCCACATGTGATCATGACCACAGAGGAAAAAAAAAATAACTATTTTTCCCCCCATGGATTTGGAATGTAGGAGCAATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATC... | GGGTGACAGAGTAAGACTCTGTCTAAAATAAATAAATAAACAAAAGGTATTTAGATTTCAAATTACTACATTGACATATGACTAACTTTCCCACATGTGATCATGACCACAGAGGAAAAAAAAAATAACTATTTTTCCCCCCATGGATTTGGAATGTAGGAGCAATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATC... | pathogenic | 58,337 |
For chromosome 2, position 227699117, gene SLC19A3 (solute carrier family 19 member 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | AAATAAATAAACAAAAGGTATTTAGATTTCAAATTACTACATTGACATATGACTAACTTTCCCACATGTGATCATGACCACAGAGGAAAAAAAAAATAACTATTTTTCCCCCCATGGATTTGGAATGTAGGAGCAATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATCTTCAAAGTCTCATTTGACATTTAAGCTTC... | AAATAAATAAACAAAAGGTATTTAGATTTCAAATTACTACATTGACATATGACTAACTTTCCCACATGTGATCATGACCACAGAGGAAAAAAAAAATAACTATTTTTCCCCCCATGGATTTGGAATGTAGGAGCAATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATCTTCAAAGTCTCATTTGACATTTAAGCTTC... | pathogenic | 58,338 |
The mutation impacting SLC19A3 (solute carrier family 19 member 3) on chromosome 2 at position 227699231: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | TGGATTTGGAATGTAGGAGCAATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATCTTCAAAGTCTCATTTGACATTTAAGCTTCCAGTTACTAGGAAATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGA... | TGGATTTGGAATGTAGGAGCAATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATCTTCAAAGTCTCATTTGACATTTAAGCTTCCAGTTACTAGGAAATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGA... | pathogenic | 58,343 |
Mutation at chromosome 2, position 227699407, within SLC19A3 (solute carrier family 19 member 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | CTTCAAAGTCTCATTTGACATTTAAGCTTCCAGTTACTAGGAAATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCC... | CTTCAAAGTCTCATTTGACATTTAAGCTTCCAGTTACTAGGAAATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCC... | pathogenic | 58,350 |
Located at chromosome 2 position 227699543, the variant affecting gene SLC19A3 (solute carrier family 19 member 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | CCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCCTAAAAGAACAGGGCATGTTATTAACCTTTGTGCTAATGATGAATTGGAATCTTAGGGATTCAACTAGAATTTCATTGTTTGGTGCTAATCCCTGAGCTCCTAAGAGTTACTTCTTGTGGCTGGGCGTGGTGGCTCA... | CCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCCTAAAAGAACAGGGCATGTTATTAACCTTTGTGCTAATGATGAATTGGAATCTTAGGGATTCAACTAGAATTTCATTGTTTGGTGCTAATCCCTGAGCTCCTAAGAGTTACTTCTTGTGGCTGGGCGTGGTGGCTCA... | pathogenic | 58,353 |
Mutation found at chromosome 2 position 227702207, gene SLC19A3 (solute carrier family 19 member 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | GAGCCACCGTGCCCGGCCCAAGATTCTTAAAAAATATAATTTCCTTCTTGTTTGAATATTAACATTAGACAAGTAGACCACAATGTTAAAAGAATCCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGC... | GAGCCACCGTGCCCGGCCCAAGATTCTTAAAAAATATAATTTCCTTCTTGTTTGAATATTAACATTAGACAAGTAGACCACAATGTTAAAAGAATCCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGC... | pathogenic | 58,359 |
Evaluate this variant at chromosome 2, position 227702236, gene SLC19A3 (solute carrier family 19 member 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | AAAAATATAATTTCCTTCTTGTTTGAATATTAACATTAGACAAGTAGACCACAATGTTAAAAGAATCCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGAGAGCCGAGACTGTGCCACTGTACTCC... | AAAAATATAATTTCCTTCTTGTTTGAATATTAACATTAGACAAGTAGACCACAATGTTAAAAGAATCCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGAGAGCCGAGACTGTGCCACTGTACTCC... | pathogenic | 58,361 |
Gene SLC19A3 (solute carrier family 19 member 3) variant at chromosome position 227702244 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Biotin-responsive_basal_ganglia_disease'] | AATTTCCTTCTTGTTTGAATATTAACATTAGACAAGTAGACCACAATGTTAAAAGAATCCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGAGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGG... | AATTTCCTTCTTGTTTGAATATTAACATTAGACAAGTAGACCACAATGTTAAAAGAATCCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGAGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGG... | pathogenic | 58,362 |
Is the genetic mutation found on chromosome 2 at position 227702395, within the gene SLC19A3 (solute carrier family 19 member 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGAGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTGAACAACAACAACAAAAAGAATCCAACAGCCTTTATTTTCATGTGATCTATCACTACATCAAATATTTCAGCCCTTCCAACATCTGGAAAGATATGGGAAAATAGGGAAAGAGTAAATAACTTTGCCACA... | GCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGAGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTGAACAACAACAACAAAAAGAATCCAACAGCCTTTATTTTCATGTGATCTATCACTACATCAAATATTTCAGCCCTTCCAACATCTGGAAAGATATGGGAAAATAGGGAAAGAGTAAATAACTTTGCCACA... | benign | 58,371 |
Regarding the variant found on chromosome 2 at position 229796598 in gene TRIP12 (thyroid hormone receptor interactor 12): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Clark-Baraitser_syndrome'] | AGTAAGACTCTGTCCCAAAATAAATAAATAAATAAATAAATAAATAAAAACCAAACAAATTTCCTATTTTCTAGGCCTCCGGTCAAAATATTCCATGAAACTTGTAACATTCCACAACATAGAACAATTCTTTCCTGTAGCACCTCAAGAGTCCTTAAAACTACATTAAAAATATATATATTTATTAAACTAGTAAAACTTCAAACATTTGACCCCATCAAAATACAAAGTTATAGCCACTAATATTACATATAAATCATATCGCTCAAAATGTAAACATTACTCACAGCCACAAAAAATTTTTTATCCCTACTGAAGTT... | AGTAAGACTCTGTCCCAAAATAAATAAATAAATAAATAAATAAATAAAAACCAAACAAATTTCCTATTTTCTAGGCCTCCGGTCAAAATATTCCATGAAACTTGTAACATTCCACAACATAGAACAATTCTTTCCTGTAGCACCTCAAGAGTCCTTAAAACTACATTAAAAATATATATATTTATTAAACTAGTAAAACTTCAAACATTTGACCCCATCAAAATACAAAGTTATAGCCACTAATATTACATATAAATCATATCGCTCAAAATGTAAACATTACTCACAGCCACAAAAAATTTTTTATCCCTACTGAAGTT... | pathogenic | 58,389 |
For chromosome 2, position 229797823, gene TRIP12 (thyroid hormone receptor interactor 12): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Clark-Baraitser_syndrome', 'Inborn_genetic_diseases'] | AAAGAGATTGCACATAATCTTAAGTATGCTGTAAAACTATACATAATACTGTCACGCTTCTAATGAATCTCCAATAAATACTAACTTTGCTTTAGGTTGACTCACAAGTTAAAATACAAGCAATGCTCAAATGCCTCTGAGGACTGCAAGCGCATGGTGAAATAGTGTTAATACATAGGAGAGCTATGCTAAGCCCTATTACACAGATAATAGGGAACGTTTCCAAGTGATGCCTTCTCTTTAAGCCACTGTAAAACAAGGAGAATGCTGTCAACAGCATCCAAGGATTACCCTCTTGCTCTGGCCCACTTAAGAGTGAA... | AAAGAGATTGCACATAATCTTAAGTATGCTGTAAAACTATACATAATACTGTCACGCTTCTAATGAATCTCCAATAAATACTAACTTTGCTTTAGGTTGACTCACAAGTTAAAATACAAGCAATGCTCAAATGCCTCTGAGGACTGCAAGCGCATGGTGAAATAGTGTTAATACATAGGAGAGCTATGCTAAGCCCTATTACACAGATAATAGGGAACGTTTCCAAGTGATGCCTTCTCTTTAAGCCACTGTAAAACAAGGAGAATGCTGTCAACAGCATCCAAGGATTACCCTCTTGCTCTGGCCCACTTAAGAGTGAA... | pathogenic | 58,391 |
Does the variant on chromosome 2 at location 229840800 affecting gene TRIP12 (thyroid hormone receptor interactor 12) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CAGAAAAGTTGCTATGCAACCTCAAAAGCAAACAGGTGTACTAAATCCAGATATTTTAAACAATCTAAAAAATTTAAAAACAGGTTGAAAAGATTTAAGGTGGCAAAGCTATATTTCTTATGACTTATAGGCACCAAGTTGTACTGTTTACTTATGTCGCTATTGTAACACCGCCAAGAGTAGAGATAAGAACCAAAAGAAGTGGAAAGACCTTTCTGCTAACCTGAGTGGGAAAACGTAAGCTAAAATCATTCCCCCCTGCATTACTAGTGTTGATGCATTTACTAGAGGGAACAAGCTACAGTCATGTGCTGCATAAT... | CAGAAAAGTTGCTATGCAACCTCAAAAGCAAACAGGTGTACTAAATCCAGATATTTTAAACAATCTAAAAAATTTAAAAACAGGTTGAAAAGATTTAAGGTGGCAAAGCTATATTTCTTATGACTTATAGGCACCAAGTTGTACTGTTTACTTATGTCGCTATTGTAACACCGCCAAGAGTAGAGATAAGAACCAAAAGAAGTGGAAAGACCTTTCTGCTAACCTGAGTGGGAAAACGTAAGCTAAAATCATTCCCCCCTGCATTACTAGTGTTGATGCATTTACTAGAGGGAACAAGCTACAGTCATGTGCTGCATAAT... | benign | 58,401 |
Is the genetic change at chromosome 2, position 230178174, within gene SP110 (SP110 nuclear body protein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hepatic_veno-occlusive_disease-immunodeficiency_syndrome', 'Mycobacterium_tuberculosis,_susceptibility_to'] | TAAAGAAGGGGTTTTGTCCTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCCACCTTGGTCTCCCAAAGTGCTGGGATTACATCGCTCTGTATAGCAATACAGAGTCTCACTATATCACTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTTAGCTGGGACTACAGGTGCACACCACCATTCCTAGTTGATTAAAAAAAAATTTGTTAGAGATGGGGTCTTGCTATGTTGCCTAGGCTTAGAGCATTTTATTTCTGACACCTTTGGTTTATAGCCATCCAAATATCCAG... | TAAAGAAGGGGTTTTGTCCTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCCACCTTGGTCTCCCAAAGTGCTGGGATTACATCGCTCTGTATAGCAATACAGAGTCTCACTATATCACTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTTAGCTGGGACTACAGGTGCACACCACCATTCCTAGTTGATTAAAAAAAAATTTGTTAGAGATGGGGTCTTGCTATGTTGCCTAGGCTTAGAGCATTTTATTTCTGACACCTTTGGTTTATAGCCATCCAAATATCCAG... | pathogenic | 58,418 |
Clinical significance of chromosome 2, position 230178241, gene SP110 (SP110 nuclear body protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hepatic_veno-occlusive_disease-immunodeficiency_syndrome', 'Mycobacterium_tuberculosis,_susceptibility_to'] | CTTGGTCTCCCAAAGTGCTGGGATTACATCGCTCTGTATAGCAATACAGAGTCTCACTATATCACTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTTAGCTGGGACTACAGGTGCACACCACCATTCCTAGTTGATTAAAAAAAAATTTGTTAGAGATGGGGTCTTGCTATGTTGCCTAGGCTTAGAGCATTTTATTTCTGACACCTTTGGTTTATAGCCATCCAAATATCCAGATCTTTTTCTAAAACACATGGACATGATGAGCTTTTTCATTTAATTTTTATTTTAGAGTCATTTGCT... | CTTGGTCTCCCAAAGTGCTGGGATTACATCGCTCTGTATAGCAATACAGAGTCTCACTATATCACTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTACCTCAGCCTTAGCTGGGACTACAGGTGCACACCACCATTCCTAGTTGATTAAAAAAAAATTTGTTAGAGATGGGGTCTTGCTATGTTGCCTAGGCTTAGAGCATTTTATTTCTGACACCTTTGGTTTATAGCCATCCAAATATCCAGATCTTTTTCTAAAACACATGGACATGATGAGCTTTTTCATTTAATTTTTATTTTAGAGTCATTTGCT... | pathogenic | 58,419 |
A genetic alteration at chromosome 2, position 230200894, in gene SP110—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hepatic_veno-occlusive_disease-immunodeficiency_syndrome'] | CCTCGGCCTCCCAATAGCAAATTATTAATGATAGCAAATTACTATCTGTGACCGGAAGCATTTAGAGTCCTTCAGTGGAGGAGGTGTGCCCTTCTTTGACTTTGCCATTTTCTCTTTAGCTGGAACATAGACATGCTGGCTGGACCTCAATAAAGGGGATGCCACATGCTGAGGATGATGGAGCCACATGCTGAGGATGATGGAGCAACAAGCAAGAATAAGCCCAGGACCCTACAGTGTATGACACCAGCTCTTGACCACCTACCTCTCTTGCTTTAGCTACTATTATTATTATTATTATTATTTTTTTTTTTTTTTAG... | CCTCGGCCTCCCAATAGCAAATTATTAATGATAGCAAATTACTATCTGTGACCGGAAGCATTTAGAGTCCTTCAGTGGAGGAGGTGTGCCCTTCTTTGACTTTGCCATTTTCTCTTTAGCTGGAACATAGACATGCTGGCTGGACCTCAATAAAGGGGATGCCACATGCTGAGGATGATGGAGCCACATGCTGAGGATGATGGAGCAACAAGCAAGAATAAGCCCAGGACCCTACAGTGTATGACACCAGCTCTTGACCACCTACCTCTCTTGCTTTAGCTACTATTATTATTATTATTATTATTTTTTTTTTTTTTTAG... | pathogenic | 58,425 |
Variant in gene SP110, located at chromosome 2 position 230211534: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hepatic_veno-occlusive_disease-immunodeficiency_syndrome', 'Mycobacterium_tuberculosis,_susceptibility_to'] | CAGGGAGGAAGGGGCTGGATGGGGCCAGTAGGCAGCAAAGGACAGACATCTAACCTGTCTCTCACCATGAGGTGTGAGTGATGGATGGCAGAGAATGCCTAGCCATGTCTTAAGAGGAAGTGGGTTCCTCTCTGGGGAACCAACTTTCAGTTAAAGAGGGAAGTGCAATTAACACTCTAAGAAGTTGTGAATATAGGAGATTGATTTTTTCAGAACAGGCAATTCCAATGGCATATTTCAATACCCCCAAATGCCTTCTGGTTTCCTGATAATTTTCATAAAGGCCTTTTTGGAAGATGCAGCAAATGGAAACTGCAGAA... | CAGGGAGGAAGGGGCTGGATGGGGCCAGTAGGCAGCAAAGGACAGACATCTAACCTGTCTCTCACCATGAGGTGTGAGTGATGGATGGCAGAGAATGCCTAGCCATGTCTTAAGAGGAAGTGGGTTCCTCTCTGGGGAACCAACTTTCAGTTAAAGAGGGAAGTGCAATTAACACTCTAAGAAGTTGTGAATATAGGAGATTGATTTTTTCAGAACAGGCAATTCCAATGGCATATTTCAATACCCCCAAATGCCTTCTGGTTTCCTGATAATTTTCATAAAGGCCTTTTTGGAAGATGCAGCAAATGGAAACTGCAGAA... | pathogenic | 58,433 |
A genetic variant on chromosome 2, position 230212371, affects the gene SP110. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hepatic_veno-occlusive_disease-immunodeficiency_syndrome'] | ACTGTGCTGGGTATCATGACTATAGTCACATGGTTTCTGCTCCCAGCAGCCCCTGCTCAAGGAATGAAGCTGAGAGCGGAAAGTGGTGATATTGAAATCTGATGTCCATGATGAAGGGGAATGTCTTTGCTGTATGAAAAATACATCTTATTGCTTTGACGTCTATGTGTGGATATTCTTTAACTGCTCTATCTGTGGTTATTTTACTTGGAGAAATAGTGGAGAAGGCTAAATGCCTTATATATTTCTGTATATAAGGATTGTTTGAAGAAAGCAGGAGCTAGCCTGTGCTTGCTAGCACCTGTTAACAGCAAAGACAT... | ACTGTGCTGGGTATCATGACTATAGTCACATGGTTTCTGCTCCCAGCAGCCCCTGCTCAAGGAATGAAGCTGAGAGCGGAAAGTGGTGATATTGAAATCTGATGTCCATGATGAAGGGGAATGTCTTTGCTGTATGAAAAATACATCTTATTGCTTTGACGTCTATGTGTGGATATTCTTTAACTGCTCTATCTGTGGTTATTTTACTTGGAGAAATAGTGGAGAAGGCTAAATGCCTTATATATTTCTGTATATAAGGATTGTTTGAAGAAAGCAGGAGCTAGCCTGTGCTTGCTAGCACCTGTTAACAGCAAAGACAT... | pathogenic | 58,435 |
Evaluate this variant at chromosome 2, position 231222761, gene ARMC9 (armadillo repeat containing 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TATTCTCAGAGTTGAAAGCACAGAAAAAATAAGAATGGTCAAGAAAAAAATAGGTGACTCATGTCCAAAGAGGCTTTATTTCAGTCTCATCCCTGTCATTAGCAGAGCATCATAAAGTAAGTAATTACATTGAAAACACATATTTGTTGGTAATACAAAATAGTAATCAACAACAGAGCAATCTAACTGGAAGTCTGTATGTCCCAAGCATTTTGTTTTGTTTGTTTTTTGAGACATAGCAGTCCTTTCCTGAGATTCTTCTCTGTGTGGTTGAGCGTAGACCACCTTGAGTTGTAGCACCTGGGTGATTTCCCTAGGGC... | TATTCTCAGAGTTGAAAGCACAGAAAAAATAAGAATGGTCAAGAAAAAAATAGGTGACTCATGTCCAAAGAGGCTTTATTTCAGTCTCATCCCTGTCATTAGCAGAGCATCATAAAGTAAGTAATTACATTGAAAACACATATTTGTTGGTAATACAAAATAGTAATCAACAACAGAGCAATCTAACTGGAAGTCTGTATGTCCCAAGCATTTTGTTTTGTTTGTTTTTTGAGACATAGCAGTCCTTTCCTGAGATTCTTCTCTGTGTGGTTGAGCGTAGACCACCTTGAGTTGTAGCACCTGGGTGATTTCCCTAGGGC... | benign | 58,471 |
Determine whether the variant at chromosome 2, position 231360823, in gene ARMC9 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TCTAGGCAAAAGACAGCCCCAAATGCCAACAGGAAATAGTTCCCAAGGGAAAAGGCCAATAATATGGCTTAGCATTTTGCAGAACGTTGGCCTAAGGAAAGCTATTCTCATTTCCCCACCAACCAGGACTATCTTCAATATCAAAATCACATGCCTTGGGACTTCATAGCCCTGGGAGTTAAAATGCCCAGCCCTGTCTGAAATGGACCAGCAGGCAAGAGATACTACTGTCCCAGGAAGACCCCGGTGCACACCCATGGCTGCCCCATCTCCTAGCTCCTGGCTGTCTTAGTTAGGGGGGTCTCCTGTTTTTTTTTTTT... | TCTAGGCAAAAGACAGCCCCAAATGCCAACAGGAAATAGTTCCCAAGGGAAAAGGCCAATAATATGGCTTAGCATTTTGCAGAACGTTGGCCTAAGGAAAGCTATTCTCATTTCCCCACCAACCAGGACTATCTTCAATATCAAAATCACATGCCTTGGGACTTCATAGCCCTGGGAGTTAAAATGCCCAGCCCTGTCTGAAATGGACCAGCAGGCAAGAGATACTACTGTCCCAGGAAGACCCCGGTGCACACCCATGGCTGCCCCATCTCCTAGCTCCTGGCTGTCTTAGTTAGGGGGGTCTCCTGTTTTTTTTTTTT... | benign | 58,507 |
Chromosome 2, position 232485937, gene ECEL1 (endothelin converting enzyme like 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Distal_arthrogryposis_type_5D'] | GTCCCCCTGCCTGCAGGGGACATGTGGGGCTCCCCATATTAGGACCATGGCCTCGGGAGGGCTCCACCCTCAGTTCAGCACCATCCTCCTCTCTCAAACAAGGGCAACCCACCTTGGCTTTGCTGGCAGCTGAGAAGTGCTCATGTACAAAGAGGGCGCCAAGCGCCATGCCAAAGTGGCGATTGGCCTGGCCCAAGCAGACCCGGGCCAGCTCCTGTGGCTTGTCGCTGCCCTCCATCTCCTGTGCCAGCTCGTGCAGTGCCTCACGGAATGGCGGGGACAGGTGTTCACTCAGGACCACCACCACGCGCCACACCAGG... | GTCCCCCTGCCTGCAGGGGACATGTGGGGCTCCCCATATTAGGACCATGGCCTCGGGAGGGCTCCACCCTCAGTTCAGCACCATCCTCCTCTCTCAAACAAGGGCAACCCACCTTGGCTTTGCTGGCAGCTGAGAAGTGCTCATGTACAAAGAGGGCGCCAAGCGCCATGCCAAAGTGGCGATTGGCCTGGCCCAAGCAGACCCGGGCCAGCTCCTGTGGCTTGTCGCTGCCCTCCATCTCCTGTGCCAGCTCGTGCAGTGCCTCACGGAATGGCGGGGACAGGTGTTCACTCAGGACCACCACCACGCGCCACACCAGG... | pathogenic | 58,688 |
Located at chromosome 2 position 232486144, the variant affecting gene ECEL1 (endothelin converting enzyme like 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Distal_arthrogryposis_type_5D'] | CCAGCTCCTGTGGCTTGTCGCTGCCCTCCATCTCCTGTGCCAGCTCGTGCAGTGCCTCACGGAATGGCGGGGACAGGTGTTCACTCAGGACCACCACCACGCGCCACACCAGGTAGTTGTGCAGGACCCTGGGGACCAGGTGAAGCCAGTGGGTGTCCAGACGGACATGCATGTGGGCCACCAAGGGCACCACCCCTACCTGTGCCCGCCAACCTGTGGCTGGACCCAGGACCCAGACAGCCCCACAAAGAAGGGACAGGGGGTCATCCCAGCTATGCAGAGCAGAAAATGTAAAGCCCACCCAGCAGAGAGGTCCAGGG... | CCAGCTCCTGTGGCTTGTCGCTGCCCTCCATCTCCTGTGCCAGCTCGTGCAGTGCCTCACGGAATGGCGGGGACAGGTGTTCACTCAGGACCACCACCACGCGCCACACCAGGTAGTTGTGCAGGACCCTGGGGACCAGGTGAAGCCAGTGGGTGTCCAGACGGACATGCATGTGGGCCACCAAGGGCACCACCCCTACCTGTGCCCGCCAACCTGTGGCTGGACCCAGGACCCAGACAGCCCCACAAAGAAGGGACAGGGGGTCATCCCAGCTATGCAGAGCAGAAAATGTAAAGCCCACCCAGCAGAGAGGTCCAGGG... | pathogenic | 58,689 |
Is the chromosome 2, position 232486498 variant in ECEL1 (endothelin converting enzyme like 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Distal_arthrogryposis_type_5D', 'Inborn_genetic_diseases'] | AATGCCAGATCTGCAGCCATACCGGTGGGGTGTGGAGCGGATGAGCTGCGACACCTGCTGCATGTAGTCTGTCGCCAGCAGCACCACCTCCTCTTCCTCTGAGAAGTCCTCCTGGAAGATCTGGTCTAGCAGCCACTTCCACCGCAACTGTGAGACCAAGGACAGGGACAGTGAGGCTAGGGTTGGCAGGGGCCACAGAAGACAGGGAGGGGGCAGAGAGAGGCAGCGAGGGGACATGAGAGTCCATGGCCAAGGAACGGTTTGCCCATCTCTGGGGAGAGATGACCCTGTAGTCCCAGCAGCAGCATTGCCCTCAACCC... | AATGCCAGATCTGCAGCCATACCGGTGGGGTGTGGAGCGGATGAGCTGCGACACCTGCTGCATGTAGTCTGTCGCCAGCAGCACCACCTCCTCTTCCTCTGAGAAGTCCTCCTGGAAGATCTGGTCTAGCAGCCACTTCCACCGCAACTGTGAGACCAAGGACAGGGACAGTGAGGCTAGGGTTGGCAGGGGCCACAGAAGACAGGGAGGGGGCAGAGAGAGGCAGCGAGGGGACATGAGAGTCCATGGCCAAGGAACGGTTTGCCCATCTCTGGGGAGAGATGACCCTGTAGTCCCAGCAGCAGCATTGCCCTCAACCC... | pathogenic | 58,692 |
Does the variant on chromosome 2 at location 232521440 affecting gene PRSS56 (serine protease 56) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GAGCATTCCTGAAGTAGAGGTATTGTCATGGCGAGGTGCGGTGGTAACTGGGGAAAGGGCTCCTTAGCATGGTGTGCTGGTCACTGTGGAACAGCTGGCTCTCCAGGGGGAAAGAGCCCCGGGTCATAGCATTTGCTGATAAATATTCCCACCAGTTCACCTCACATGAATTGGGGAGCCTGGGCAGCGCAGACGGGCACTATCCTACCCCAGGTGGTAACTCAGTCCCAGGAGAGCTGTGTGGCCCTGCCCATGAGACTCCAGAGGACTCCAGAAGAATCCCACTGCCAGATCAGGGTCACAGAACAATGCCGGACAGG... | GAGCATTCCTGAAGTAGAGGTATTGTCATGGCGAGGTGCGGTGGTAACTGGGGAAAGGGCTCCTTAGCATGGTGTGCTGGTCACTGTGGAACAGCTGGCTCTCCAGGGGGAAAGAGCCCCGGGTCATAGCATTTGCTGATAAATATTCCCACCAGTTCACCTCACATGAATTGGGGAGCCTGGGCAGCGCAGACGGGCACTATCCTACCCCAGGTGGTAACTCAGTCCCAGGAGAGCTGTGTGGCCCTGCCCATGAGACTCCAGAGGACTCCAGAAGAATCCCACTGCCAGATCAGGGTCACAGAACAATGCCGGACAGG... | benign | 58,702 |
Mutation found at chromosome 2 position 232523817, gene PRSS56 (serine protease 56): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Isolated_microphthalmia_6', 'Nanophthalmia', 'PRSS56-related_disorder'] | ACAGGCGAGAGGGCAGCAGTGAGACTCAAAGGTCTGTTTCTCTGCAGGATCTGGGCGCCCCAGGCCTCAAGCTCTCCTCCAGGACCCACCTGAGCCAGGTGAGGTTGAAAAGGCTCGAGGGGGCAGGCCTGAGAGCCGGGTGGGCCTCGAAGGCGAGGATGGCCAGAACATGTCCCTCGTGACACCCCTTGCCCCTTTCTAGGGCCGTGCGGCGAGAGGCGTCCGAGCACTGCCAATGTGACGCGGGCCCACGGCCGCATCGTGGGGGGCAGCGCGGCGCCGCCCGGGGCCTGGCCCTGGCTGGTGAGGCTGCAGCTCGG... | ACAGGCGAGAGGGCAGCAGTGAGACTCAAAGGTCTGTTTCTCTGCAGGATCTGGGCGCCCCAGGCCTCAAGCTCTCCTCCAGGACCCACCTGAGCCAGGTGAGGTTGAAAAGGCTCGAGGGGGCAGGCCTGAGAGCCGGGTGGGCCTCGAAGGCGAGGATGGCCAGAACATGTCCCTCGTGACACCCCTTGCCCCTTTCTAGGGCCGTGCGGCGAGAGGCGTCCGAGCACTGCCAATGTGACGCGGGCCCACGGCCGCATCGTGGGGGGCAGCGCGGCGCCGCCCGGGGCCTGGCCCTGGCTGGTGAGGCTGCAGCTCGG... | pathogenic | 58,715 |
Is chromosome 2, position 232527310, gene CHRND (cholinergic receptor nicotinic delta subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCTGGGTGCGGGCAGGCTTGGGGGGCCGGCATGTGGCCTTCAGCGGCCTGGTGGGCCTGGAGCCGGCCACACTGGCTCGCAGCCTCCCCCGGCTGCTGGTGCAGGCCCTGCAGGCCTTCCGCGTGGCTGCCCTGGCAGAAGGGGAGCCCGAGGGACCCTGGATGGATGTAGGGCAGGGGCCCGGGCTGGAGAGGAAGGGGCACCACCCACTCAACCCTCAGGTACCCCCCGCCAGGCAACCCTGAGCCATGTCTGGGCCCCCAGCCCCTGGGGAGGACCTACTGCTCCCAGGGGCTGAGAGGGGTTCGGGAGCATAATGA... | CCTGGGTGCGGGCAGGCTTGGGGGGCCGGCATGTGGCCTTCAGCGGCCTGGTGGGCCTGGAGCCGGCCACACTGGCTCGCAGCCTCCCCCGGCTGCTGGTGCAGGCCCTGCAGGCCTTCCGCGTGGCTGCCCTGGCAGAAGGGGAGCCCGAGGGACCCTGGATGGATGTAGGGCAGGGGCCCGGGCTGGAGAGGAAGGGGCACCACCCACTCAACCCTCAGGTACCCCCCGCCAGGCAACCCTGAGCCATGTCTGGGCCCCCAGCCCCTGGGGAGGACCTACTGCTCCCAGGGGCTGAGAGGGGTTCGGGAGCATAATGA... | benign | 58,739 |
Mutation at chromosome 2, position 232528872, within CHRND (cholinergic receptor nicotinic delta subunit): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Lethal_multiple_pterygium_syndrome'] | GCTGCTGTCCTGCCCCTCCAGTGTCAGCTCTGCGGTGTCCCCCAACCACACCCATAGCATGCCCCATCTGTGACACACTTCAGAGGCCACTGGTCCTCTCTGCTCCCTGGCGGCCTACCCACTCCTGACTGCGAGTGATCAGGGCCCAGATGCCACGGTTTCCCTGGGTGCCAATTGACAGTGGGTGAATGTAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATAGTAAAACCTGATCTCTACTAAAAATA... | GCTGCTGTCCTGCCCCTCCAGTGTCAGCTCTGCGGTGTCCCCCAACCACACCCATAGCATGCCCCATCTGTGACACACTTCAGAGGCCACTGGTCCTCTCTGCTCCCTGGCGGCCTACCCACTCCTGACTGCGAGTGATCAGGGCCCAGATGCCACGGTTTCCCTGGGTGCCAATTGACAGTGGGTGAATGTAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATAGTAAAACCTGATCTCTACTAAAAATA... | pathogenic | 58,744 |
Considering the variant on chromosome 2, location 232531264, involving gene CHRND (cholinergic receptor nicotinic delta subunit), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCTCCCCATGCCTCTGCCCAGGCCCGGAAGTCATGCTTCTCCCACATGAGATGCCTGTGGCTGACAGGGGTTTAGTCTTTCCTGTGCCTGGTGAGCCCAGGGGTGTGGTTGGCATGAGGGCTGTGTTATCCTGATGGGGGTGTCTGCCACCCCTCCTGACATCCTCATCCCCGATCTGTACCCAGGCTCGGATCCTCCATGGGGCCTACCACTTGCCCTGTCCATCAGAAGGGACCCTGTCTCACTGTCTCAGGCTGGCACATCATGGCAGGGATAGTTTTACTGTCACTGGCTCATTATCCCCAAGGCCCAGGCCGAGG... | CCTCCCCATGCCTCTGCCCAGGCCCGGAAGTCATGCTTCTCCCACATGAGATGCCTGTGGCTGACAGGGGTTTAGTCTTTCCTGTGCCTGGTGAGCCCAGGGGTGTGGTTGGCATGAGGGCTGTGTTATCCTGATGGGGGTGTCTGCCACCCCTCCTGACATCCTCATCCCCGATCTGTACCCAGGCTCGGATCCTCCATGGGGCCTACCACTTGCCCTGTCCATCAGAAGGGACCCTGTCTCACTGTCTCAGGCTGGCACATCATGGCAGGGATAGTTTTACTGTCACTGGCTCATTATCCCCAAGGCCCAGGCCGAGG... | benign | 58,747 |
Located at chromosome 2 position 232531587, the variant affecting gene CHRND (cholinergic receptor nicotinic delta subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_3B', 'Lethal_multiple_pterygium_syndrome'] | GGCTCAATTAATGTCCAGGAGGCTTTTCTTTGTTACTCAGGAAGACAGGCTCAATGTCTGAGAGCATTTGTTTGACTTGGTGTCTTAATCTGCAATACCTGTTTTTGGCTCGTGTATCTTTTGAGCCAAAAGATACTCCTTATTTGAGTCCTGTATGGCCTCAGCTTCTATTTTTTCCGAAAAGATAAAAAAGAAATCAGTCACAGAGGAAGATTTCCCCTCACAGATGGAAACTTCCATCCCGACCCCCCAGGGAACGACACCCACCAACGGGACCCCGTAGACAGCCCATCTGCGTCTCTGGACTGGCTTGCCCTGCC... | GGCTCAATTAATGTCCAGGAGGCTTTTCTTTGTTACTCAGGAAGACAGGCTCAATGTCTGAGAGCATTTGTTTGACTTGGTGTCTTAATCTGCAATACCTGTTTTTGGCTCGTGTATCTTTTGAGCCAAAAGATACTCCTTATTTGAGTCCTGTATGGCCTCAGCTTCTATTTTTTCCGAAAAGATAAAAAAGAAATCAGTCACAGAGGAAGATTTCCCCTCACAGATGGAAACTTCCATCCCGACCCCCCAGGGAACGACACCCACCAACGGGACCCCGTAGACAGCCCATCTGCGTCTCTGGACTGGCTTGCCCTGCC... | pathogenic | 58,754 |
A genetic variant at chromosome 2, position 232533987, affecting gene CHRND (cholinergic receptor nicotinic delta subunit)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Congenital_myasthenic_syndrome_3B', 'Lethal_multiple_pterygium_syndrome'] | CTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGCACTCTCAATAGCCAAAAGCTGGAGACTAAGCCAGGTACAGTGGCTCACACCTGGAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGGATCCCTGGAACCCAGGAGTTGGAGGTTGCAATGTACTATGATCACAGTTGCACCCCAGTCTGGGCAACAGATCGAGACCCCATCTCTAAAAAAATAAAATAAAATGAAAAGCAGGGACCGGGTGTGGTAGCTCACACCTATAATCCCAGCACTTTGGGTGGCTGAGGCGGGTGGATCACCTGAGGTCA... | CTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGCACTCTCAATAGCCAAAAGCTGGAGACTAAGCCAGGTACAGTGGCTCACACCTGGAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGGATCCCTGGAACCCAGGAGTTGGAGGTTGCAATGTACTATGATCACAGTTGCACCCCAGTCTGGGCAACAGATCGAGACCCCATCTCTAAAAAAATAAAATAAAATGAAAAGCAGGGACCGGGTGTGGTAGCTCACACCTATAATCCCAGCACTTTGGGTGGCTGAGGCGGGTGGATCACCTGAGGTCA... | pathogenic | 58,757 |
Does the variant impacting CHRNG (cholinergic receptor nicotinic gamma subunit) on chromosome 2, position 232540049, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'Inborn_genetic_diseases', 'Lethal_multiple_pterygium_syndrome'] | TAGATGGGCTTGGTGGCGCCCGCCTGTAATCCCAGCTACTCAGGCGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCAAGTCATTGTACTCCAGCCTTGGCGACAAGAGTGAAACTCCAACTCAAAGAAAAAAAAAAAAACAACTTTTCCATAAAGCTCCAGTAGACATCCCGCAGGTCAAAACATCACATGGCTAGCCTATCTGAAGGGAGACTAGGAAATGAGTATCTTGCTCTACCAGCCATTATAACAGAGGGTGGCAAAGGAGAAGTAGTGTTAGACAATTCTACAGAT... | TAGATGGGCTTGGTGGCGCCCGCCTGTAATCCCAGCTACTCAGGCGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCAAGTCATTGTACTCCAGCCTTGGCGACAAGAGTGAAACTCCAACTCAAAGAAAAAAAAAAAAACAACTTTTCCATAAAGCTCCAGTAGACATCCCGCAGGTCAAAACATCACATGGCTAGCCTATCTGAAGGGAGACTAGGAAATGAGTATCTTGCTCTACCAGCCATTATAACAGAGGGTGGCAAAGGAGAAGTAGTGTTAGACAATTCTACAGAT... | pathogenic | 58,771 |
Is the genetic variant on chromosome 2, position 232540424, gene CHRNG (cholinergic receptor nicotinic gamma subunit), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'Lethal_multiple_pterygium_syndrome'] | ATTCCTCATTGATGATTTACCCTTCGGAGAACACCAAGAAGGCTTCTAGGCCATCTCTCCCAGAGCAGAGAAAGGGAGAAAACAGGAGGGTGGAGGGTAGGGGATGCAGGGACAGGTGGTCCACTGTTTGGCAGTGCTTCCTGATCATGGAGGCCATTGAATTTGGTAAAATGTGGGCATGGAGGAGAGTAAAGAGGTGGAGAGAAACTGGTCTGCAAAAGAGGATAAGAAAACTGCATCTAGGGGGACCAGAGGGCAAAATGGAAAGGCAAGGCTCTCAGAAGTGAGAAGGAAACGAGGGCTTTGTAAATTCCAGGAAA... | ATTCCTCATTGATGATTTACCCTTCGGAGAACACCAAGAAGGCTTCTAGGCCATCTCTCCCAGAGCAGAGAAAGGGAGAAAACAGGAGGGTGGAGGGTAGGGGATGCAGGGACAGGTGGTCCACTGTTTGGCAGTGCTTCCTGATCATGGAGGCCATTGAATTTGGTAAAATGTGGGCATGGAGGAGAGTAAAGAGGTGGAGAGAAACTGGTCTGCAAAAGAGGATAAGAAAACTGCATCTAGGGGGACCAGAGGGCAAAATGGAAAGGCAAGGCTCTCAGAAGTGAGAAGGAAACGAGGGCTTTGTAAATTCCAGGAAA... | pathogenic | 58,777 |
Gene CHRNG (cholinergic receptor nicotinic gamma subunit) variant at chromosome 2, position 232540649—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome'] | TAAGAAAACTGCATCTAGGGGGACCAGAGGGCAAAATGGAAAGGCAAGGCTCTCAGAAGTGAGAAGGAAACGAGGGCTTTGTAAATTCCAGGAAAAGTGGGCCACACAGAGAGAAGCTCAGTGGGGGGGATGCCCAGGGAGGGGGAAGCTCAGGAAGGGGGAAGCTCAGGGAGGAGGAAGCTCAGAGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGCTTAGGGAGGGAGAAGCTCAGGGAGGGGGAAGCTCTGGGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGGTCAGCGAGGGG... | TAAGAAAACTGCATCTAGGGGGACCAGAGGGCAAAATGGAAAGGCAAGGCTCTCAGAAGTGAGAAGGAAACGAGGGCTTTGTAAATTCCAGGAAAAGTGGGCCACACAGAGAGAAGCTCAGTGGGGGGGATGCCCAGGGAGGGGGAAGCTCAGGAAGGGGGAAGCTCAGGGAGGAGGAAGCTCAGAGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGCTTAGGGAGGGAGAAGCTCAGGGAGGGGGAAGCTCTGGGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGGTCAGCGAGGGG... | pathogenic | 58,781 |
Gene mutation in CHRNG (cholinergic receptor nicotinic gamma subunit) at chromosome 2, position 232541419—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'Lethal_multiple_pterygium_syndrome'] | AGGTTCCTCGGCGACCTGCCTTCCCTACCACACCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTC... | AGGTTCCTCGGCGACCTGCCTTCCCTACCACACCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTC... | pathogenic | 58,784 |
Variant chromosome 2, position 232541423, gene CHRNG (cholinergic receptor nicotinic gamma subunit): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'Inborn_genetic_diseases', 'Lethal_multiple_pterygium_syndrome'] | TCCTCGGCGACCTGCCTTCCCTACCACACCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCC... | TCCTCGGCGACCTGCCTTCCCTACCACACCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCC... | pathogenic | 58,785 |
Is the chromosome 2, position 232541424 variant in CHRNG (cholinergic receptor nicotinic gamma subunit) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'Lethal_multiple_pterygium_syndrome'] | CCTCGGCGACCTGCCTTCCCTACCACACCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCC... | CCTCGGCGACCTGCCTTCCCTACCACACCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCC... | pathogenic | 58,786 |
Evaluate the clinical significance of the mutation at chromosome 2, position 232541481 in gene CHRNG (cholinergic receptor nicotinic gamma subunit): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'CHRNG-related_disorder', 'Lethal_multiple_pterygium_syndrome'] | ATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCCCAGACCTTGGAGCTGTTGTCCCACCCCTGTCACTGCAGAGAGCTGAGGCACCATGCA... | ATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCCCAGACCTTGGAGCTGTTGTCCCACCCCTGTCACTGCAGAGAGCTGAGGCACCATGCA... | pathogenic | 58,790 |
Chromosome 2, position 232542447, gene CHRNG (cholinergic receptor nicotinic gamma subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'Lethal_multiple_pterygium_syndrome'] | CTCACCACCAATGTCTGGATAGAGATGGTAAGAGGCCACCCTGCCACCCTCCTTCCATCAGGGGTCCCACCCCACCACCCCAAGGCCTCCTGAGAGTTGCCTGCCCCGTTCCTGCCTCTTCTGTCCTCTTGGGCTGGATGCCCACTCCTAGGGCTGTGGTGCAGCAGAGGGCAGAGGCCTAGCAACTGCCCCTCCCCCTGCAGCAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAAGTGAGGA... | CTCACCACCAATGTCTGGATAGAGATGGTAAGAGGCCACCCTGCCACCCTCCTTCCATCAGGGGTCCCACCCCACCACCCCAAGGCCTCCTGAGAGTTGCCTGCCCCGTTCCTGCCTCTTCTGTCCTCTTGGGCTGGATGCCCACTCCTAGGGCTGTGGTGCAGCAGAGGGCAGAGGCCTAGCAACTGCCCCTCCCCCTGCAGCAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAAGTGAGGA... | pathogenic | 58,792 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 232542869, gene CHRNG (cholinergic receptor nicotinic gamma subunit): what disease(s) if pathogenic? | benign | GGCACCTGTGGGGCTAGGGAAGAACTGGATGGAGCAGGTGCCGAGGGCAGGGCCCTGGGTATGCCCTCTGACCCCAGGGCCAGCAGAGCAGACCCTACGCCAGGCTCCATCTCCTCTGGGCTGGGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAA... | GGCACCTGTGGGGCTAGGGAAGAACTGGATGGAGCAGGTGCCGAGGGCAGGGCCCTGGGTATGCCCTCTGACCCCAGGGCCAGCAGAGCAGACCCTACGCCAGGCTCCATCTCCTCTGGGCTGGGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAA... | benign | 58,794 |
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