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 |
|---|---|---|---|---|---|
Chromosome 2, position 188994708, gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTT... | TCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTT... | benign | 52,419 |
Clinically, how would you classify the variant at chromosome 2, position 188994759, gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAAAGCATTAGATTGCTTCTTGCAACTGATTTTTTTAATC... | TTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAAAGCATTAGATTGCTTCTTGCAACTGATTTTTTTAATC... | pathogenic | 52,425 |
Does the chromosome 2 mutation at position 188996166 within gene COL3A1 (collagen type III alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ehlers-Danlos_syndrome,_type_4'] | ACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGA... | ACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGA... | pathogenic | 52,464 |
A genetic variant on chromosome 2, position 188996303, affects the gene COL3A1 (collagen type III alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGC... | GCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGC... | benign | 52,472 |
Chromosome 2, position 188996383, gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGT... | AAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGT... | benign | 52,475 |
Regarding the variant at chromosome 2 and position 188996427, affecting gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ehlers-Danlos_syndrome,_type_4'] | TTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTA... | TTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTA... | pathogenic | 52,478 |
Is the variant located on chromosome 2 at position 188997684, gene COL3A1 (collagen type III alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTATCTAGGTTAGTGAAGGCTATTTTAATTTTTTTAAAATTTCTTTCACTACTTAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGG... | CTATCTAGGTTAGTGAAGGCTATTTTAATTTTTTTAAAATTTCTTTCACTACTTAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGG... | benign | 52,519 |
Is the genetic variant on chromosome 2, position 188999358, gene COL3A1 (collagen type III alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ehlers-Danlos_syndrome,_type_4', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCT... | ACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCT... | pathogenic | 52,555 |
Variant in gene COL3A1 (collagen type III alpha 1 chain), located at chromosome 2 position 188999854: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GTGTCCCTAATAGATTATAATTTATCTGAAGCTTAACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATGTGTCACTGGATT... | GTGTCCCTAATAGATTATAATTTATCTGAAGCTTAACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATGTGTCACTGGATT... | benign | 52,573 |
The mutation in gene COL3A1 (collagen type III alpha 1 chain) at chromosome 2, position 189001416—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_type_4'] | TCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCAT... | TCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCAT... | pathogenic | 52,582 |
Clinically, how would you classify the variant at chromosome 2, position 189001616, gene COL3A1: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATG... | GGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATG... | benign | 52,593 |
The mutation in gene COL3A1 (collagen type III alpha 1 chain) at chromosome 2, position 189003038—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_type_4'] | TTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTTTTAAAAAGTATGTTATCTAGTTTATTAGG... | TTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTTTTAAAAAGTATGTTATCTAGTTTATTAGG... | pathogenic | 52,607 |
Determine if the mutation at chromosome 2, position 189006936 in gene COL3A1 (collagen type III alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ehlers-Danlos_syndrome,_type_4', 'Polymicrogyria_with_or_without_vascular-type_Ehlers-Danlos_syndrome'] | TTTCAACAAAATGTTATGTAATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCC... | TTTCAACAAAATGTTATGTAATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCC... | pathogenic | 52,699 |
Variant at chromosome position 189007496, chromosome 2, gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ehlers-Danlos_syndrome,_type_4'] | TGGAAGAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAG... | TGGAAGAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAG... | pathogenic | 52,711 |
Considering the variant on chromosome 2, location 189008052, involving gene COL3A1 (collagen type III alpha 1 chain), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ehlers-Danlos_syndrome,_type_4', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTG... | TCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTG... | pathogenic | 52,725 |
Clinically, how would you classify the variant at chromosome 2, position 189008076, gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ehlers-Danlos_syndrome,_type_4', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGT... | TGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGT... | pathogenic | 52,727 |
The chromosome 2, position 189008160 genetic variant in gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAAG... | CTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAAG... | benign | 52,734 |
Does the variant impacting COL5A2 (collagen type V alpha 2 chain) on chromosome 2, position 189035171, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTCTAGATCTTTTTCTTCATTATAGGCTTCAGGATGATGAGATTGTACATGTGGAAGAGTCTCAATTTAGAGTCCTTGGACATATGTTTGTAAAGTTCTATATGTCAATTATTTTGCATTCAATATCTTCTTAAATAAGAAAGTGTAAATGTATTAAATGGTATATACTAGTGTGACTTCTATCAATATTGATAGATTGATCAAGAGGAGAAAGATATCTTTAAATTTGAATGAGAAAGATGTCTAAACTTATAGTCTTTTACAAAAATTTAAGAAGTCGAAGTAAATTCACTTTGTTCTCCAAAATGCCACTGAATATA... | TTCTAGATCTTTTTCTTCATTATAGGCTTCAGGATGATGAGATTGTACATGTGGAAGAGTCTCAATTTAGAGTCCTTGGACATATGTTTGTAAAGTTCTATATGTCAATTATTTTGCATTCAATATCTTCTTAAATAAGAAAGTGTAAATGTATTAAATGGTATATACTAGTGTGACTTCTATCAATATTGATAGATTGATCAAGAGGAGAAAGATATCTTTAAATTTGAATGAGAAAGATGTCTAAACTTATAGTCTTTTACAAAAATTTAAGAAGTCGAAGTAAATTCACTTTGTTCTCCAAAATGCCACTGAATATA... | benign | 52,840 |
Is the genetic change at chromosome 2, position 189036599, within gene COL5A2 (collagen type V alpha 2 chain) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TACTTACAAATTGGTGGAAAAAATAAAGTATCTTGGATTAATTACGCATTTTAGAAATAAGGAATTTTAAGCATGGGACTGAGATTCAGTAAGTTAAATAACTTGGAAAAGAACCAAAGAAAGTCTGCAGAAGAACTGGATCAGATCTTAGGGATCCAGTTCTTTCTTTACTATATGGATTCAAACCTCTATCATGCTTCATGTGCTAACACACACACATTTACCCTAAGGAATGACTATAAACAAACTGCTATTATGCTCATATACAAGGTAAAATTGCCCCCAGTTCTAGTGCTGTAATAGTATTTTTAACAAAAATA... | TACTTACAAATTGGTGGAAAAAATAAAGTATCTTGGATTAATTACGCATTTTAGAAATAAGGAATTTTAAGCATGGGACTGAGATTCAGTAAGTTAAATAACTTGGAAAAGAACCAAAGAAAGTCTGCAGAAGAACTGGATCAGATCTTAGGGATCCAGTTCTTTCTTTACTATATGGATTCAAACCTCTATCATGCTTCATGTGCTAACACACACACATTTACCCTAAGGAATGACTATAAACAAACTGCTATTATGCTCATATACAAGGTAAAATTGCCCCCAGTTCTAGTGCTGTAATAGTATTTTTAACAAAAATA... | benign | 52,843 |
Evaluate if the mutation on chromosome 2 at position 189051495 in COL5A2 (collagen type V alpha 2 chain) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GGTGTTCCCTGAAATAGAAGTATAAATGTCAAACACTTGTGAAGAAATTGAAGAACGCTAGTTCCCATAAAGGCTAAGTTTTCAAAATGGTGCCTCTGGGCTCCTTCTATAATAATAATTTTGCATTATCTTACAACACTCATGTAATCATAATGCTTTCTTAGAGGCCTGCCCACCTCCTATCAGACTCCTCTTGACGTATCTAAGGGACCAAAAACCAACCATCTGTTGCCACCAGCACAGGTGTGCATTTTGGGTTCTAATCATGTGTACCATAGGTGATTCTAGCTGCCCTTCTGGAATTTGCATCACTTTCATCC... | GGTGTTCCCTGAAATAGAAGTATAAATGTCAAACACTTGTGAAGAAATTGAAGAACGCTAGTTCCCATAAAGGCTAAGTTTTCAAAATGGTGCCTCTGGGCTCCTTCTATAATAATAATTTTGCATTATCTTACAACACTCATGTAATCATAATGCTTTCTTAGAGGCCTGCCCACCTCCTATCAGACTCCTCTTGACGTATCTAAGGGACCAAAAACCAACCATCTGTTGCCACCAGCACAGGTGTGCATTTTGGGTTCTAATCATGTGTACCATAGGTGATTCTAGCTGCCCTTCTGGAATTTGCATCACTTTCATCC... | benign | 52,925 |
Regarding the variant found on chromosome 2 at position 189058904 in gene COL5A2 (collagen type V alpha 2 chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CCAACTCCTGACTACCAAGGAAACATGACTGACTTTATTTTGGAAGGTTCAGGGAAACTCATATGATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAAGTTTCATGAGAGTGAAGGCTAATTGTCATTTTCCTAGTCGTATCCAGGTGAGCCTGGGATGGTGCCTCACACTGTGCATTTTCTCA... | CCAACTCCTGACTACCAAGGAAACATGACTGACTTTATTTTGGAAGGTTCAGGGAAACTCATATGATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAAGTTTCATGAGAGTGAAGGCTAATTGTCATTTTCCTAGTCGTATCCAGGTGAGCCTGGGATGGTGCCTCACACTGTGCATTTTCTCA... | benign | 52,975 |
Is the variant located on chromosome 2 at position 189058904, gene COL5A2 (collagen type V alpha 2 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CCAACTCCTGACTACCAAGGAAACATGACTGACTTTATTTTGGAAGGTTCAGGGAAACTCATATGATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAAGTTTCATGAGAGTGAAGGCTAATTGTCATTTTCCTAGTCGTATCCAGGTGAGCCTGGGATGGTGCCTCACACTGTGCATTTTCTCA... | CCAACTCCTGACTACCAAGGAAACATGACTGACTTTATTTTGGAAGGTTCAGGGAAACTCATATGATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAAGTTTCATGAGAGTGAAGGCTAATTGTCATTTTCCTAGTCGTATCCAGGTGAGCCTGGGATGGTGCCTCACACTGTGCATTTTCTCA... | benign | 52,976 |
Variant chromosome 2, position 189058904, gene COL5A2 (collagen type V alpha 2 chain): benign or pathogenic? Disease(s)? | benign | CCAACTCCTGACTACCAAGGAAACATGACTGACTTTATTTTGGAAGGTTCAGGGAAACTCATATGATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAAGTTTCATGAGAGTGAAGGCTAATTGTCATTTTCCTAGTCGTATCCAGGTGAGCCTGGGATGGTGCCTCACACTGTGCATTTTCTCA... | CCAACTCCTGACTACCAAGGAAACATGACTGACTTTATTTTGGAAGGTTCAGGGAAACTCATATGATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAAGTTTCATGAGAGTGAAGGCTAATTGTCATTTTCCTAGTCGTATCCAGGTGAGCCTGGGATGGTGCCTCACACTGTGCATTTTCTCA... | benign | 52,977 |
Located at chromosome 2 position 189079109, the variant affecting gene COL5A2 (collagen type V alpha 2 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTCCTCAAAATTTAAAGGAAAAAAAAGAAATTTAAAATCTCAGGTCCATCTAAAGTCACTTGGCCTAGAGAAGTGGCCCATTCCCCCCATTAATAGTTGGTAGTTCTCTCTTGTTGAAGATGATACCTAAGCCTCTAATTTGGAAGACAACTTAAGCCTCACTTCTGGACACCACACCAATAACTAACACTACTCCTGATTTTTTAAAAAGATATCATACACCAAAGCACCTATAAGACCTAAACATCGGGTAGAGGCGGGATCTGAGAAAGAATGTATGGGTCTTGGTCCTGAAGATACTGTATCAAAAAAACAGAATA... | GTCCTCAAAATTTAAAGGAAAAAAAAGAAATTTAAAATCTCAGGTCCATCTAAAGTCACTTGGCCTAGAGAAGTGGCCCATTCCCCCCATTAATAGTTGGTAGTTCTCTCTTGTTGAAGATGATACCTAAGCCTCTAATTTGGAAGACAACTTAAGCCTCACTTCTGGACACCACACCAATAACTAACACTACTCCTGATTTTTTAAAAAGATATCATACACCAAAGCACCTATAAGACCTAAACATCGGGTAGAGGCGGGATCTGAGAAAGAATGTATGGGTCTTGGTCCTGAAGATACTGTATCAAAAAAACAGAATA... | benign | 53,044 |
Classify the chromosome 2 variant at position 189571741 affecting gene SLC40A1 (solute carrier family 40 member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hemochromatosis_type_4', 'SLC40A1-related_disorder'] | GGATGTGAAAGAGCACCACTTACTAAAAGCTAATGTAGAGTGGACAAGAGTTCAACAAACATCTCACTTCCTTTCCTACTTGAAAAACATCAGAAAGTTAGAAAAAGACTGAATAGCCTAGATTCTTCCACTCTGCAATAATTCATAATATAAAGACAGACAGCTGAGAAACGACCAGTCATATTTTTGTTGTTATTCTTGGACATCACTTCATAGAAAAATCCCAGAGTTATGTGGCATGTTTGCAGTTATATTTATATGATGTGTGTATATATATGTATGTATATATATACACACCTATATATGTATGTATATATATA... | GGATGTGAAAGAGCACCACTTACTAAAAGCTAATGTAGAGTGGACAAGAGTTCAACAAACATCTCACTTCCTTTCCTACTTGAAAAACATCAGAAAGTTAGAAAAAGACTGAATAGCCTAGATTCTTCCACTCTGCAATAATTCATAATATAAAGACAGACAGCTGAGAAACGACCAGTCATATTTTTGTTGTTATTCTTGGACATCACTTCATAGAAAAATCCCAGAGTTATGTGGCATGTTTGCAGTTATATTTATATGATGTGTGTATATATATGTATGTATATATATACACACCTATATATGTATGTATATATATA... | pathogenic | 53,138 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 189575148, gene SLC40A1 (solute carrier family 40 member 1). What disease(s) is it linked to if pathogenic? | benign | AGTCAGTCCTGCCTCAACTACTCTCAATACAACCCAGAGGATCACACCAGACCAGTAAATATGCAAACAAAATGATGAAGTACCACAAGTTTCTCTGTTCACTGAAGTCTATCATAATGACTACATTTTCATTTAGTTTATCTTCTTGAAAGTTTAACATAAATGGAGCTGTAGTATGATATAGACATGATCCACATTTCAGCTCTTTGTTGCTTAAGGTAAAACAATAACATGTATGAGGTTAAAGAGGAAGTTATGAAATCTACAACCTCCTACATGGCAGGCTGAATCTGATAATATGGTTTACCTAAATAGAAAAG... | AGTCAGTCCTGCCTCAACTACTCTCAATACAACCCAGAGGATCACACCAGACCAGTAAATATGCAAACAAAATGATGAAGTACCACAAGTTTCTCTGTTCACTGAAGTCTATCATAATGACTACATTTTCATTTAGTTTATCTTCTTGAAAGTTTAACATAAATGGAGCTGTAGTATGATATAGACATGATCCACATTTCAGCTCTTTGTTGCTTAAGGTAAAACAATAACATGTATGAGGTTAAAGAGGAAGTTATGAAATCTACAACCTCCTACATGGCAGGCTGAATCTGATAATATGGTTTACCTAAATAGAAAAG... | benign | 53,143 |
Variant in gene SLC40A1, located at chromosome 2 position 189580769: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CACTTTGTTTACATGTATTTGCAGAGTCACCCCTGTGTAAGCCTCTGGTAAGATAGGAGCTTGCTTTTCTAAAATGTCATCTATAAACTGCTATTTCTTAGAGAACCAATAATGTAGCTTAACAATTTCTCAAAGGTATTGGGTATAGATTTCCTCTTCCAGTGGTTTCCATCCATGTCTTAAGGATGATCCAATATAAGTTTCCAATTTAAAAGGAAAATAACATTCAAAAAATTTACTCTCAAAATTCTTTCCATTCTTTTTAAATACATATGAGCCATGGACAGAATATAGCCAGATTTATTGCTTTTAAACAATAA... | CACTTTGTTTACATGTATTTGCAGAGTCACCCCTGTGTAAGCCTCTGGTAAGATAGGAGCTTGCTTTTCTAAAATGTCATCTATAAACTGCTATTTCTTAGAGAACCAATAATGTAGCTTAACAATTTCTCAAAGGTATTGGGTATAGATTTCCTCTTCCAGTGGTTTCCATCCATGTCTTAAGGATGATCCAATATAAGTTTCCAATTTAAAAGGAAAATAACATTCAAAAAATTTACTCTCAAAATTCTTTCCATTCTTTTTAAATACATATGAGCCATGGACAGAATATAGCCAGATTTATTGCTTTTAAACAATAA... | benign | 53,152 |
Benign or pathogenic: chromosome 2, position 189752685, gene OSGEPL1 variant? Disease(s) if pathogenic? | benign | TGTCTACTCCAAGAGGACATCTACATCATAAGCAGACAAATCGTATTATTTATTTGCTTCATGATCCATCACTAGTTCTGCAGACTATTTGCTTAGAATTCTGATGGTATAAATATCAAATATTTAATTCATCATATGTGGTGATGATTCTTAAATACTTACAAATATACTGGGACCTCAAGTCAGGATAATGAAAGCTAGTCTCATTAATAAGAAATCTAAATTTTGAGATATTTTTGAAAGAAACAGTTTTGCTGTTCTCAAATACTGTAAATAAGTTAAAAACATAAAATGAAATATAAAAATAATGAAAAATATCT... | TGTCTACTCCAAGAGGACATCTACATCATAAGCAGACAAATCGTATTATTTATTTGCTTCATGATCCATCACTAGTTCTGCAGACTATTTGCTTAGAATTCTGATGGTATAAATATCAAATATTTAATTCATCATATGTGGTGATGATTCTTAAATACTTACAAATATACTGGGACCTCAAGTCAGGATAATGAAAGCTAGTCTCATTAATAAGAAATCTAAATTTTGAGATATTTTTGAAAGAAACAGTTTTGCTGTTCTCAAATACTGTAAATAAGTTAAAAACATAAAATGAAATATAAAAATAATGAAAAATATCT... | benign | 53,162 |
Considering the variant on chromosome 2, location 190991252, involving gene STAT1 (signal transducer and activator of transcription 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autoimmune_enteropathy_and_endocrinopathy_-_susceptibility_to_chronic_infections_syndrome', 'Immunodeficiency_31B', 'Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_STAT1_deficiency'] | CTAGAAGGAGGGGGTGGCATGCCAAGTCCAGCCACTTTGAGACTTGCTGATTACAATCTCATATGCACAAAGAGACACTCACTCTTTTGTTCATTTATAGTCTAAAAAGGCACAGGAATGTTGATACCAGCTCCAGGGGAAGCTCCCAACATCCACCAAGGGAGCTGCTGATTTAAATCTGCTGGGGTCATTTGTGATGGCCCTGGTGGATCTGACTAGAAGTCTCTGCTCATGCGCAGCATTGTCAGGACTCTGGGTTCAGCCCTGGGGCCCTAGGGAGGCAAACTTCCACCCAGTATAGACCCTTCCACAGCTAGAAA... | CTAGAAGGAGGGGGTGGCATGCCAAGTCCAGCCACTTTGAGACTTGCTGATTACAATCTCATATGCACAAAGAGACACTCACTCTTTTGTTCATTTATAGTCTAAAAAGGCACAGGAATGTTGATACCAGCTCCAGGGGAAGCTCCCAACATCCACCAAGGGAGCTGCTGATTTAAATCTGCTGGGGTCATTTGTGATGGCCCTGGTGGATCTGACTAGAAGTCTCTGCTCATGCGCAGCATTGTCAGGACTCTGGGTTCAGCCCTGGGGCCCTAGGGAGGCAAACTTCCACCCAGTATAGACCCTTCCACAGCTAGAAA... | pathogenic | 53,280 |
A genetic variant at chromosome 2, position 191009915, affecting gene STAT1 (signal transducer and activator of transcription 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Immunodeficiency_31B'] | ACCTAACGTACTTTTTGATTTAAAAACAAGTATTTTCACATATGGTTCACATAATATTTTTACTTTAATATCTTTCCATATTTCTTAAGGCCAATTATCTTTGGTTAGGATCCCGAGACAATGCAAATGATATAAAAACTATACATGACATTCCTCAATGAATGCATCTGTTGGTCTAAGCTTTGAACTAGACCAAAGATATTCATCTAGGGTTTTCTGTTGCCATTGTCAAAGCTAGTTTGCAAAACACTACCAATAGCAATAATGGCTCTTTATACAGGTACATTCATGCAAGGTCTGTATGAGAACAAATTTCTGTA... | ACCTAACGTACTTTTTGATTTAAAAACAAGTATTTTCACATATGGTTCACATAATATTTTTACTTTAATATCTTTCCATATTTCTTAAGGCCAATTATCTTTGGTTAGGATCCCGAGACAATGCAAATGATATAAAAACTATACATGACATTCCTCAATGAATGCATCTGTTGGTCTAAGCTTTGAACTAGACCAAAGATATTCATCTAGGGTTTTCTGTTGCCATTGTCAAAGCTAGTTTGCAAAACACTACCAATAGCAATAATGGCTCTTTATACAGGTACATTCATGCAAGGTCTGTATGAGAACAAATTTCTGTA... | pathogenic | 53,298 |
Clinical significance of chromosome 2, position 195895084, gene DNAH7 (dynein axonemal heavy chain 7): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCTCAAGTGGTCCTCTCACCTCAGCCTCCTGAGTAGCTGGGACTACACATGGCACATGCCACCACGCCCAGCTAATTTTTTGTGTTTTTTTTTAAAGTAGAAACAGGGTTTCTACTTTTATCCAGGCTGGTCTAGGACTCCTGGGCTCAAGTGATCCGCCTGCCTTGGCCTCTCAAAGGGCCAAGATTACAGGAATGAGCCACCACTCCCGGCAGAATAGTAATCTTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGACATTCTCCTGCCTCAGCC... | GCTCAAGTGGTCCTCTCACCTCAGCCTCCTGAGTAGCTGGGACTACACATGGCACATGCCACCACGCCCAGCTAATTTTTTGTGTTTTTTTTTAAAGTAGAAACAGGGTTTCTACTTTTATCCAGGCTGGTCTAGGACTCCTGGGCTCAAGTGATCCGCCTGCCTTGGCCTCTCAAAGGGCCAAGATTACAGGAATGAGCCACCACTCCCGGCAGAATAGTAATCTTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGACATTCTCCTGCCTCAGCC... | benign | 53,348 |
Is the variant located on chromosome 2 at position 196319543, gene HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TATGAGGACCTAGAAACAAAAGAAGAGAATAGGAGGTGAATGCTTAGAAGAGGGCTTCCTGAAGAAATGTCCTCTGCATGTATCCCCCGCTCCTGCAGCTTCCCCTGCCTCATCCCTCACCCATAACGGCCTCTGTCCTGGTCATGCGCTAATGCTTTAGGGTCACATGGTGGCTACAATATAATGAAGGAAACAAAATTTAAAAAAAAAAAGGAGGAGGAAGAAAAGAAGGGGATCATGTAGGTAGAAAAATACATTACAGAAAAAGAAAATCATTCCTATTTCTGAGTTATGCCAGCCAGACATATGAAATTGCTCTT... | TATGAGGACCTAGAAACAAAAGAAGAGAATAGGAGGTGAATGCTTAGAAGAGGGCTTCCTGAAGAAATGTCCTCTGCATGTATCCCCCGCTCCTGCAGCTTCCCCTGCCTCATCCCTCACCCATAACGGCCTCTGTCCTGGTCATGCGCTAATGCTTTAGGGTCACATGGTGGCTACAATATAATGAAGGAAACAAAATTTAAAAAAAAAAAGGAGGAGGAAGAAAAGAAGGGGATCATGTAGGTAGAAAAATACATTACAGAAAAAGAAAATCATTCCTATTTCTGAGTTATGCCAGCCAGACATATGAAATTGCTCTT... | benign | 53,413 |
Variant at chromosome 2, position 196844055, gene PGAP1 (post-GPI attachment to proteins inositol deacylase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_recessive_42'] | ATAAGACATAGCTACAGAAATGTTTATTTTAACCCTACTTATAAAAAAAAAAAACAAAAAACCAAAGAACCATCTTACATTCCCAAAACAAGGAGTATAAAGAGAAAAATACTATCAGAAAAGACAATTACCTTTTTACTCTGAAAATAGAGAAACTGAGAATAAGAGGGGTTAAGAAATGTAACTAAAGACAGAGCTATTAAATATTTGGCAGAACCAGGATTTAAACTCCAGGTCGGCCTGATTCTAAAATATCTGCAAATATCTGGCAGAATCAACTGAAAAGACTCCCAGAGCAAACAACAAGTGAATGAAAAATC... | ATAAGACATAGCTACAGAAATGTTTATTTTAACCCTACTTATAAAAAAAAAAAACAAAAAACCAAAGAACCATCTTACATTCCCAAAACAAGGAGTATAAAGAGAAAAATACTATCAGAAAAGACAATTACCTTTTTACTCTGAAAATAGAGAAACTGAGAATAAGAGGGGTTAAGAAATGTAACTAAAGACAGAGCTATTAAATATTTGGCAGAACCAGGATTTAAACTCCAGGTCGGCCTGATTCTAAAATATCTGCAAATATCTGGCAGAATCAACTGAAAAGACTCCCAGAGCAAACAACAAGTGAATGAAAAATC... | pathogenic | 53,433 |
Gene PGAP1 (post-GPI attachment to proteins inositol deacylase 1) variant at chromosome 2, position 196847110—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_recessive_42'] | AATTTATTAGGGTTACTTAAGTATTTAAGAAAACTTTGCTTAGTGGGTCAGTGGTTTGAATTACCTAATTTAAAAAATACTAAAATTATTATTTATAAATCAAAGTAGCTGTAAATAATTTTTTAAGAAGCATATAAATTTCCTTTGGAAAACTGAAAATAATATATGATATGCATGTATTTACACTTTTAAAAATTTCATTTTTAAGGAAAAAAAGAATTATCCACTCTGATGTCAACTGTCTGTTCCTAAGAATAACATGGAGAGAATACACTTGTATTACCTCCTGGATTTTTTTTTTTTTCTTTGCAAAGCTGTCA... | AATTTATTAGGGTTACTTAAGTATTTAAGAAAACTTTGCTTAGTGGGTCAGTGGTTTGAATTACCTAATTTAAAAAATACTAAAATTATTATTTATAAATCAAAGTAGCTGTAAATAATTTTTTAAGAAGCATATAAATTTCCTTTGGAAAACTGAAAATAATATATGATATGCATGTATTTACACTTTTAAAAATTTCATTTTTAAGGAAAAAAAGAATTATCCACTCTGATGTCAACTGTCTGTTCCTAAGAATAACATGGAGAGAATACACTTGTATTACCTCCTGGATTTTTTTTTTTTTCTTTGCAAAGCTGTCA... | pathogenic | 53,439 |
Mutation found at chromosome 2 position 196875774, gene PGAP1 (post-GPI attachment to proteins inositol deacylase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_disability,_autosomal_recessive_42'] | TTGTATTTAACACCACTTTCCTTGAAGACAATCCTGTTGAATTCAAAGTACTGTATTACTTAGAATATCAAGGAAGTTTTTAAAAACATACTGATTATTTAATTAGCATTAAGACAATGCCAATAATTAAAAATTTATTTACAGGTTTTCACTTCTGTATGGAGTTAACTCCTAAAAATCTAATCTCCCAGCAATAAACTCTAGACAAAATAAATTTTATTACTTCCAATCACATCTATCTGCTTTTAAAAAAGTCAGGTATATAATTCCAATTTCAGAAAGGTGTACTTTCTTGGTAGATCTTTTATTTTACAAGCTTC... | TTGTATTTAACACCACTTTCCTTGAAGACAATCCTGTTGAATTCAAAGTACTGTATTACTTAGAATATCAAGGAAGTTTTTAAAAACATACTGATTATTTAATTAGCATTAAGACAATGCCAATAATTAAAAATTTATTTACAGGTTTTCACTTCTGTATGGAGTTAACTCCTAAAAATCTAATCTCCCAGCAATAAACTCTAGACAAAATAAATTTTATTACTTCCAATCACATCTATCTGCTTTTAAAAAAGTCAGGTATATAATTCCAATTTCAGAAAGGTGTACTTTCTTGGTAGATCTTTTATTTTACAAGCTTC... | pathogenic | 53,451 |
The chromosome 2, position 196880160 genetic variant in gene PGAP1 (post-GPI attachment to proteins inositol deacylase 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCAAAATCACCATTCTTTTCTTTCTATTCCCACTTCCCTAGTACAAGCTGAGGATCCCTCATCCAAAATGCATGGAACTAGAAGTGTTTGATTTTTTTCAGATTTTGGAATATTTGCCTATACATAATCACATATCTTGGGGATGGAACCCAAGTCTAAACACAAAACTCATTTATGTTTCATACATATCTTACACACTTAGTCTTAAGGTAATTTTTATATTTTTAATAACTTTGTGCATGAAACAAAATTTTGACTGTTTTGACTACATCTCACCACATGAGGTCAGGGGTTGAATTTTCCAATTGTGGTGTCAGGTT... | TCAAAATCACCATTCTTTTCTTTCTATTCCCACTTCCCTAGTACAAGCTGAGGATCCCTCATCCAAAATGCATGGAACTAGAAGTGTTTGATTTTTTTCAGATTTTGGAATATTTGCCTATACATAATCACATATCTTGGGGATGGAACCCAAGTCTAAACACAAAACTCATTTATGTTTCATACATATCTTACACACTTAGTCTTAAGGTAATTTTTATATTTTTAATAACTTTGTGCATGAAACAAAATTTTGACTGTTTTGACTACATCTCACCACATGAGGTCAGGGGTTGAATTTTCCAATTGTGGTGTCAGGTT... | benign | 53,454 |
Assess the variant on chromosome 2, position 196912939, impacting PGAP1 (post-GPI attachment to proteins inositol deacylase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Intellectual_disability,_autosomal_recessive_42'] | CAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGAGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAAT... | CAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGAGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAAT... | pathogenic | 53,465 |
Assess the variant on chromosome 2, position 199272595, impacting SATB2: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Chromosome_2q32-q33_deletion_syndrome', 'Inborn_genetic_diseases'] | TAATGGCCAGTTTAAAGCATGGATTACGTTCACTAGGCCAGTCCTGAATGTGAGGTCTCCTCTTGCAATTACTGTAAGTAGAAGTGGAAAGTAATGCTTCTGGTGTTTCTCATAGGAAGCCGAAAGAGATCTGGAGTACTATAGTAGATTGCAGCTTTAATGCTCATCCCATTAAACATCCAGTCAGCATTAGTTCTGCTTTACATAAGGTAATTGCGATGTAGGTAACTGGGATAATGTTTTCTTTTAGGATGAGTAAGTGATTCTACTGAAATCGCTTCACATACTCTATTGCCTGGAGCTGCACAACGATTCAAAAA... | TAATGGCCAGTTTAAAGCATGGATTACGTTCACTAGGCCAGTCCTGAATGTGAGGTCTCCTCTTGCAATTACTGTAAGTAGAAGTGGAAAGTAATGCTTCTGGTGTTTCTCATAGGAAGCCGAAAGAGATCTGGAGTACTATAGTAGATTGCAGCTTTAATGCTCATCCCATTAAACATCCAGTCAGCATTAGTTCTGCTTTACATAAGGTAATTGCGATGTAGGTAACTGGGATAATGTTTTCTTTTAGGATGAGTAAGTGATTCTACTGAAATCGCTTCACATACTCTATTGCCTGGAGCTGCACAACGATTCAAAAA... | pathogenic | 53,550 |
Gene SATB2 (SATB homeobox 2) variant at chromosome position 199308844 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Abnormality_of_the_dentition', 'Cleft_palate', 'Clinodactyly_of_the_5th_finger', 'Dolichocephaly', 'Global_developmental_delay', 'Macrocephaly'] | CATGGTATAAGAGCTGCCATCCAGATGAAGGGAGGCCCTCAATTATAACAAACAATGCATTTTATTACATTTATCTCAAATTTCTCTAAGTTTCCAACTTTATCACCATCTTATGATTAAAATAAGCTGTGATTAATATGTGGAATAAATTGCTTTTTCCTTGCTGTTTTATTTCTACTTCATTTGTACTGAACTAAGATAGGCCCTGAATAAAAATTCCATGAAAAGTCAGTGGTTCCCTGAAGCAAGTCCTTGGCCTTGTGTTGGTTCAAGATAGAAGTCTAATCCAGTTCACATCAAAATGAGAAAAAAAAAAGCAG... | CATGGTATAAGAGCTGCCATCCAGATGAAGGGAGGCCCTCAATTATAACAAACAATGCATTTTATTACATTTATCTCAAATTTCTCTAAGTTTCCAACTTTATCACCATCTTATGATTAAAATAAGCTGTGATTAATATGTGGAATAAATTGCTTTTTCCTTGCTGTTTTATTTCTACTTCATTTGTACTGAACTAAGATAGGCCCTGAATAAAAATTCCATGAAAAGTCAGTGGTTCCCTGAAGCAAGTCCTTGGCCTTGTGTTGGTTCAAGATAGAAGTCTAATCCAGTTCACATCAAAATGAGAAAAAAAAAAGCAG... | pathogenic | 53,561 |
A genetic variant on chromosome 2, position 199349064, affects the gene SATB2 (SATB homeobox 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Chromosome_2q32-q33_deletion_syndrome', 'Inborn_genetic_diseases'] | CCACGCCCAGCTAATTTTTTTGTTTTGTTCTGTTTTAGTAGAGATGGTGTTTTACCATCTTGCCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTAGGACTACAGACATGAGCCACTGTGCCCAGCCCCTTAACTTCTGAAGTAATCATTAAATTTGGAAACATTCCTGTATTTTCCAAATTATTGAGGTTTCAATCCAGCATGCTTTCTTTCATTTGTAAGGTCCATCTACAGCGTGTGTTATCATGTGTCTCTGAACAGGTATCAGATAAATGAAAGCATTCCTACATT... | CCACGCCCAGCTAATTTTTTTGTTTTGTTCTGTTTTAGTAGAGATGGTGTTTTACCATCTTGCCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTAGGACTACAGACATGAGCCACTGTGCCCAGCCCCTTAACTTCTGAAGTAATCATTAAATTTGGAAACATTCCTGTATTTTCCAAATTATTGAGGTTTCAATCCAGCATGCTTTCTTTCATTTGTAAGGTCCATCTACAGCGTGTGTTATCATGTGTCTCTGAACAGGTATCAGATAAATGAAAGCATTCCTACATT... | pathogenic | 53,601 |
The mutation impacting SATB2 (SATB homeobox 2) on chromosome 2 at position 199368710: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACAGCAATGACTAGCTCCATCTCTTTGAATAGTATGTGTACACAGTGTCTGACAGCCTCTTCAGGTGTGGATCCTTGACCAACTGAATGAAATCAAGGTCTCAGTCTGCTTTTACAGCACTTAAAGATTTAATTGTGCATTTACTATCTTTAAAAAAAAAAAAAAAAGATACAGCTTGAAGAATTAAAGCTCCAGGAAAGAAAAAAGAAAAGTAGAAGATATGAGTGTTAATGTGCGAATGCACACACACACACACACACAAACACACACACACATTCTGTAGTGGCAATTCTGAAAACACTAGAGTGAAGAGTTTCCAA... | ACAGCAATGACTAGCTCCATCTCTTTGAATAGTATGTGTACACAGTGTCTGACAGCCTCTTCAGGTGTGGATCCTTGACCAACTGAATGAAATCAAGGTCTCAGTCTGCTTTTACAGCACTTAAAGATTTAATTGTGCATTTACTATCTTTAAAAAAAAAAAAAAAAGATACAGCTTGAAGAATTAAAGCTCCAGGAAAGAAAAAAGAAAAGTAGAAGATATGAGTGTTAATGTGCGAATGCACACACACACACACACACAAACACACACACACATTCTGTAGTGGCAATTCTGAAAACACTAGAGTGAAGAGTTTCCAA... | benign | 53,606 |
Chromosome 2, position 201085443, gene NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CCCAGGCTGGAGTGCAATGGCGAGATCTTGGCTCACCGCAACCTCTGCCTACCAGGTTCAAGCGATTCTCCTGCCTCTGCCTCCCGAATAGCTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTTTTTTTAGTAGAGACTAAAACGTTGGCCAGGCTGGTCTCAAGCTCCCGACCTCAGGTGATCCACACGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCATCCTGTTATTACCATTAATGGATATTGGATTTTGTTAAATGCTTTTTCTGCATCTATTGAGATGTTCATAG... | CCCAGGCTGGAGTGCAATGGCGAGATCTTGGCTCACCGCAACCTCTGCCTACCAGGTTCAAGCGATTCTCCTGCCTCTGCCTCCCGAATAGCTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTTTTTTTAGTAGAGACTAAAACGTTGGCCAGGCTGGTCTCAAGCTCCCGACCTCAGGTGATCCACACGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCATCCTGTTATTACCATTAATGGATATTGGATTTTGTTAAATGCTTTTTCTGCATCTATTGAGATGTTCATAG... | benign | 53,651 |
Determine if the mutation at chromosome 2, position 201085443 in gene NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CCCAGGCTGGAGTGCAATGGCGAGATCTTGGCTCACCGCAACCTCTGCCTACCAGGTTCAAGCGATTCTCCTGCCTCTGCCTCCCGAATAGCTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTTTTTTTAGTAGAGACTAAAACGTTGGCCAGGCTGGTCTCAAGCTCCCGACCTCAGGTGATCCACACGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCATCCTGTTATTACCATTAATGGATATTGGATTTTGTTAAATGCTTTTTCTGCATCTATTGAGATGTTCATAG... | CCCAGGCTGGAGTGCAATGGCGAGATCTTGGCTCACCGCAACCTCTGCCTACCAGGTTCAAGCGATTCTCCTGCCTCTGCCTCCCGAATAGCTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTTTTTTTAGTAGAGACTAAAACGTTGGCCAGGCTGGTCTCAAGCTCCCGACCTCAGGTGATCCACACGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCATCCTGTTATTACCATTAATGGATATTGGATTTTGTTAAATGCTTTTTCTGCATCTATTGAGATGTTCATAG... | benign | 53,652 |
Variant in NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3), chromosome 2, position 201085518—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | TCTGCCTCCCGAATAGCTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTTTTTTTAGTAGAGACTAAAACGTTGGCCAGGCTGGTCTCAAGCTCCCGACCTCAGGTGATCCACACGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCATCCTGTTATTACCATTAATGGATATTGGATTTTGTTAAATGCTTTTTCTGCATCTATTGAGATGTTCATAGTTTTTCCTTTTTATTCTGTTAATATGGCGAGTTACTTCTATTAATTTTCAAATATAAACAAATCTTGCATTCCTG... | TCTGCCTCCCGAATAGCTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTTTTTTTAGTAGAGACTAAAACGTTGGCCAGGCTGGTCTCAAGCTCCCGACCTCAGGTGATCCACACGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCATCCTGTTATTACCATTAATGGATATTGGATTTTGTTAAATGCTTTTTCTGCATCTATTGAGATGTTCATAGTTTTTCCTTTTTATTCTGTTAATATGGCGAGTTACTTCTATTAATTTTCAAATATAAACAAATCTTGCATTCCTG... | pathogenic | 53,653 |
Clinical classification of chromosome 2, position 201209057, gene CASP10 (caspase 10): benign or pathogenic? Disease(s) if pathogenic? | benign | GAATTTTAATCAGGATCTGGCATTTCACCTTGGAATTAATTAGCTAATTCCACACTAGGGCCAGGATCTTGAGAACTCTCTGCCTCTGATACTGGGAGTGGCATCCTGAAAGAAAGGAACTGTCTAATCTTTAGTGCAAATGAGATTTATCCTTTGTCCTGGGCTCTAGGACTTAAAAAAGAATCTTTGAAATTTTATTCAGATCACAATTGTGCAGTAAAAGTGAGTTGCAGAGTAGTCAGAATCCCCAGTTTTTCAATATGTGACTTCAGAAATAATGTGGCATAAATACCCCAAGGGGTTTAGACTAGAGTATAAAA... | GAATTTTAATCAGGATCTGGCATTTCACCTTGGAATTAATTAGCTAATTCCACACTAGGGCCAGGATCTTGAGAACTCTCTGCCTCTGATACTGGGAGTGGCATCCTGAAAGAAAGGAACTGTCTAATCTTTAGTGCAAATGAGATTTATCCTTTGTCCTGGGCTCTAGGACTTAAAAAAGAATCTTTGAAATTTTATTCAGATCACAATTGTGCAGTAAAAGTGAGTTGCAGAGTAGTCAGAATCCCCAGTTTTTCAATATGTGACTTCAGAAATAATGTGGCATAAATACCCCAAGGGGTTTAGACTAGAGTATAAAA... | benign | 53,672 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 201273058, gene CASP8 (caspase 8). What disease(s) is it linked to if pathogenic? | benign | GTGTGTTTGGCTTCAGGTCCTTTCGTGTTTGCGGTCTGGTCTGTGATAGGGATGTATTCGGAGACTTTGTATTCCAGAACCGAATGCTTGGCCGTCTTACTGAAGATAATGACTGGGAGAATACTGACCAGTTTTGATTAGGGAAGTCATGAGCCAATGTGCATTTTGAAAAGCATAATTTCCAAAAGGCAAAGCATTTTGCTATTGCAACAAAATCTCCATTTTACAGAAAAAAAAAAAGGAAAACAAGATTTACTCAACTGAAATAAACTGAAAGAAAAGTTGATAGAACTTTAAATTGTTAAGGGTGGGAAAGTCGG... | GTGTGTTTGGCTTCAGGTCCTTTCGTGTTTGCGGTCTGGTCTGTGATAGGGATGTATTCGGAGACTTTGTATTCCAGAACCGAATGCTTGGCCGTCTTACTGAAGATAATGACTGGGAGAATACTGACCAGTTTTGATTAGGGAAGTCATGAGCCAATGTGCATTTTGAAAAGCATAATTTCCAAAAGGCAAAGCATTTTGCTATTGCAACAAAATCTCCATTTTACAGAAAAAAAAAAAGGAAAACAAGATTTACTCAACTGAAATAAACTGAAAGAAAAGTTGATAGAACTTTAAATTGTTAAGGGTGGGAAAGTCGG... | benign | 53,699 |
Clinically, how would you classify the variant at chromosome 2, position 201628160, gene TMEM237 (transmembrane protein 237): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CATGGCTGGAGAATCTGTTCCTCAATTCCTGCTTCCCTAAAAATGTAGAAACACTCATTAGAAGTGCCTTCAGTTTGGTTCATATACACAAATATATCTATTTTATGAACTTTAAGAAAAAACAGCAGTCCTCTCCTAGAGAAATAACAAGTAAAGTGTGAAAGAAAATATAATTTCCCTGTAAAATATACCACATATATAATGAGAACAAGGGTTCAAAGGTTATTTAAACTCTGAACAGATCTGCTGTATACATTCATATAAATGCAAAGTTAGTATTCCCAAGAAAATTCTCTAAAAGTTTTCCTTCCAACTACCAT... | CATGGCTGGAGAATCTGTTCCTCAATTCCTGCTTCCCTAAAAATGTAGAAACACTCATTAGAAGTGCCTTCAGTTTGGTTCATATACACAAATATATCTATTTTATGAACTTTAAGAAAAAACAGCAGTCCTCTCCTAGAGAAATAACAAGTAAAGTGTGAAAGAAAATATAATTTCCCTGTAAAATATACCACATATATAATGAGAACAAGGGTTCAAAGGTTATTTAAACTCTGAACAGATCTGCTGTATACATTCATATAAATGCAAAGTTAGTATTCCCAAGAAAATTCTCTAAAAGTTTTCCTTCCAACTACCAT... | benign | 53,730 |
Chromosome 2, position 201629228, gene TMEM237 (transmembrane protein 237): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Joubert_syndrome_14'] | CCAAAGGAATAAGTATTTTCTTGCCATATATTTGGAAACAAAAACAGAGCCTTCATTATTTGCAGTTGAAAAAGAATGGAAGGATAAGAAAAGTTGCTGTTATTGCCATTAACAATTGCTAATGTCATTGTGAATTCTTACCAGAGGCTACCATTAACAGAAGAAGGTGTGTAAAGGTGGATTCTGTCACTTGTCATTTGCTGACTCAGAGATAGTATAAGAGCAGTAAAGTACACTGAGAAAAAGACAAATGAAATTACTAATAATTTTTAACAACCTGGTTTATTTTGAATTTATAGATTAATATCGAAAATAATCTA... | CCAAAGGAATAAGTATTTTCTTGCCATATATTTGGAAACAAAAACAGAGCCTTCATTATTTGCAGTTGAAAAAGAATGGAAGGATAAGAAAAGTTGCTGTTATTGCCATTAACAATTGCTAATGTCATTGTGAATTCTTACCAGAGGCTACCATTAACAGAAGAAGGTGTGTAAAGGTGGATTCTGTCACTTGTCATTTGCTGACTCAGAGATAGTATAAGAGCAGTAAAGTACACTGAGAAAAAGACAAATGAAATTACTAATAATTTTTAACAACCTGGTTTATTTTGAATTTATAGATTAATATCGAAAATAATCTA... | pathogenic | 53,731 |
Assess the variant on chromosome 2, position 201639057, impacting TMEM237 (transmembrane protein 237): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATTATCCCCCAAATCTTTCCTTCCTCCTCACCTGTAACTTTGGGCTTTAAGTTAGGAAAAGAAATAAATGAAGGAATAAGAAAGGCTGAGGAAGAAAAAACGAGGGGGCTAAAAAGAAGAGCAAAAGACAGGAGGAGGAGAAATTGCTTCAGAACATTTAGAACTTTGAAAAAGGTGGAAAACATAATAAAAACTGATACCATAGAGAATTCTCTTACTTGCCTCTTGCCTTAAGAATTTTCATCAGCCTCTATATAGTAAAGTCCTTCATTAATAAGTTAAAGAATAATAAAGTCATCATGGATAATTGGAGTTAGCAG... | ATTATCCCCCAAATCTTTCCTTCCTCCTCACCTGTAACTTTGGGCTTTAAGTTAGGAAAAGAAATAAATGAAGGAATAAGAAAGGCTGAGGAAGAAAAAACGAGGGGGCTAAAAAGAAGAGCAAAAGACAGGAGGAGGAGAAATTGCTTCAGAACATTTAGAACTTTGAAAAAGGTGGAAAACATAATAAAAACTGATACCATAGAGAATTCTCTTACTTGCCTCTTGCCTTAAGAATTTTCATCAGCCTCTATATAGTAAAGTCCTTCATTAATAAGTTAAAGAATAATAAAGTCATCATGGATAATTGGAGTTAGCAG... | benign | 53,752 |
Located at chromosome 2 position 201640904, the variant affecting gene TMEM237 (transmembrane protein 237)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_14'] | GCCTTAATTCTATCCTCAATGAAGTGGAGATTCGGGGCTGCTGGGGCCTTAATTCTCCCTTATCTGTGATGTTTACTACGCCTGAGGTCCTGGGAAAACTTGTGATCCCACACAACAAAGAATAACGTCTTACCTGGTGTGTTTTTTGTTCTGGGCTTCTTTTTCTTAGGACGACTAAGTGGAATATCATCTATAAAGCAAGAAAAAACGTCAACAGAAAAGGGTGCCTAAAATTCAATGCAGAGAACAGTCAGAAGAGAACTTTTAAACAGGGAAGAATTCTCCCTCTCTTCCCTGGGCCTGGCAAACGTTTATAGATT... | GCCTTAATTCTATCCTCAATGAAGTGGAGATTCGGGGCTGCTGGGGCCTTAATTCTCCCTTATCTGTGATGTTTACTACGCCTGAGGTCCTGGGAAAACTTGTGATCCCACACAACAAAGAATAACGTCTTACCTGGTGTGTTTTTTGTTCTGGGCTTCTTTTTCTTAGGACGACTAAGTGGAATATCATCTATAAAGCAAGAAAAAACGTCAACAGAAAAGGGTGCCTAAAATTCAATGCAGAGAACAGTCAGAAGAGAACTTTTAAACAGGGAAGAATTCTCCCTCTCTTCCCTGGGCCTGGCAAACGTTTATAGATT... | pathogenic | 53,760 |
Chromosome 2, position 201706852, gene ALS2 (alsin Rho guanine nucleotide exchange factor ALS2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_2,_juvenile', 'Infantile-onset_ascending_hereditary_spastic_paralysis'] | ATTGTTTCCTTTTACCCACGTGAAATCTCATTCTCCTAATATATGCTCTTTTCTGAATGAGAAATTTGGTTAATTTCCAATTGGCTAAAGATGTGATTATATGGATAAATTTCTGGCTTGGCTCTCTCCTACTTTTGAAAATGCAAGGTCATTTTAGAGTAAAAGATAACCCAAGGGTCTCATTCTGATTTCTGATTTCCAGATTGAGTTTGACACCATCAGCATATAGAATGGGGATGCTTAAGGCTTAGGTAAAGATAAGATCATATTAATAATATCTTAATAGACCAAGCACTACTTTGATTTGTATGGCTTTTCAA... | ATTGTTTCCTTTTACCCACGTGAAATCTCATTCTCCTAATATATGCTCTTTTCTGAATGAGAAATTTGGTTAATTTCCAATTGGCTAAAGATGTGATTATATGGATAAATTTCTGGCTTGGCTCTCTCCTACTTTTGAAAATGCAAGGTCATTTTAGAGTAAAAGATAACCCAAGGGTCTCATTCTGATTTCTGATTTCCAGATTGAGTTTGACACCATCAGCATATAGAATGGGGATGCTTAAGGCTTAGGTAAAGATAAGATCATATTAATAATATCTTAATAGACCAAGCACTACTTTGATTTGTATGGCTTTTCAA... | pathogenic | 53,786 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 201723134, gene ALS2 (alsin Rho guanine nucleotide exchange factor ALS2): what disease(s) if pathogenic? | benign | AAAATACTTAGAAATAAATTTAACCAAAGAAATGCAAGATGTGTACACTGAAACCTGGAAAATATTGCCAAGAGAAATTAAAGATGTAAATAAACTGTGAGGTGTTCTATGTTCATGGGTTGAAGAGTCAATATTAAGATGGCAATTCTCCCCAAATTAATCTATAGATTCAATGCAATCTCTATCAAAATCTTAGCAAGGTTTATTGCAGAATCTTGATAAGCCAGTCCTAAAATTTATATGAAAAGTCAAAGAATCTAGATTGGCCAGAACAATTTTGAAAAAGAACAAATTTGGAGGACTTATATTCCTGATTTCAC... | AAAATACTTAGAAATAAATTTAACCAAAGAAATGCAAGATGTGTACACTGAAACCTGGAAAATATTGCCAAGAGAAATTAAAGATGTAAATAAACTGTGAGGTGTTCTATGTTCATGGGTTGAAGAGTCAATATTAAGATGGCAATTCTCCCCAAATTAATCTATAGATTCAATGCAATCTCTATCAAAATCTTAGCAAGGTTTATTGCAGAATCTTGATAAGCCAGTCCTAAAATTTATATGAAAAGTCAAAGAATCTAGATTGGCCAGAACAATTTTGAAAAAGAACAAATTTGGAGGACTTATATTCCTGATTTCAC... | benign | 53,808 |
For chromosome 2, position 201728463, gene ALS2 (alsin Rho guanine nucleotide exchange factor ALS2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TACAAAATAACATAATTTACGACCTTACCGAACTTGAATTTACTGTCATGTTTTACACAATTTTCTTACCCATCTTCCAAGCCATTCCTGAACATGCCAGAATACATCTTTCCATCAGGCCACTTCAAAACCCCTCTGGAATGCATAAGCAAAGAATAATGCATGTCAACTAATATTTCAGATAATTAATACTTTTTCTATCATGTGATGATCATCCTCACCCCAGGCATAAATCTTCAACATTTTCACCTGCCATGAGGCTTCCCTGAAAGCCAGCGTCCATCATAGGTGGCATCCTTTAGGCGAGGATCCTTGTAGAA... | TACAAAATAACATAATTTACGACCTTACCGAACTTGAATTTACTGTCATGTTTTACACAATTTTCTTACCCATCTTCCAAGCCATTCCTGAACATGCCAGAATACATCTTTCCATCAGGCCACTTCAAAACCCCTCTGGAATGCATAAGCAAAGAATAATGCATGTCAACTAATATTTCAGATAATTAATACTTTTTCTATCATGTGATGATCATCCTCACCCCAGGCATAAATCTTCAACATTTTCACCTGCCATGAGGCTTCCCTGAAAGCCAGCGTCCATCATAGGTGGCATCCTTTAGGCGAGGATCCTTGTAGAA... | benign | 53,829 |
Variant on chromosome 2, at position 201760932, affecting ALS2 (alsin Rho guanine nucleotide exchange factor ALS2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Infantile-onset_ascending_hereditary_spastic_paralysis'] | TGAATTAAACGCTAAATTCAAAAGAGCTATTTCCATGCAAATTAGTCTGTAAATAGTCAATAAACAAATATACTTAATAAAACGAAAAAGAAATACAAAGCCTATTACTTCTTTGGTGATACAGCTCCCACGATAGCTTGTTCAGAAGAACTAGTGTCACTATGTCCACTTTTTGTTTACAAAGGCTCCTTACATAAGCAGTGATGGTATTTAGAGGTAACTATTTTAGGGGGTTCTTAACCACTAGGTACAGCAAAGTCACAAAACTCTACCTTATATAAACCTTGAACTACTGTTCTAACTGGCTCCTTCTACTTAAT... | TGAATTAAACGCTAAATTCAAAAGAGCTATTTCCATGCAAATTAGTCTGTAAATAGTCAATAAACAAATATACTTAATAAAACGAAAAAGAAATACAAAGCCTATTACTTCTTTGGTGATACAGCTCCCACGATAGCTTGTTCAGAAGAACTAGTGTCACTATGTCCACTTTTTGTTTACAAAGGCTCCTTACATAAGCAGTGATGGTATTTAGAGGTAACTATTTTAGGGGGTTCTTAACCACTAGGTACAGCAAAGTCACAAAACTCTACCTTATATAAACCTTGAACTACTGTTCTAACTGGCTCCTTCTACTTAAT... | pathogenic | 53,855 |
Is the variant located on chromosome 2 at position 201761112, gene ALS2 (alsin Rho guanine nucleotide exchange factor ALS2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | AAAGGCTCCTTACATAAGCAGTGATGGTATTTAGAGGTAACTATTTTAGGGGGTTCTTAACCACTAGGTACAGCAAAGTCACAAAACTCTACCTTATATAAACCTTGAACTACTGTTCTAACTGGCTCCTTCTACTTAATTATATTTAAAAATATAGTAATAAGCCCTCCCCTACAAAAAACATAATTAGCAATTTTGATGAAATATATAATTTTAGGAGTTCCAGTCAACCAGTAATACTTTGGTTTATTTCCCAAGTGAGAGAGTCTCAGTTATATCTCGCCAGAAGAGAAAAAACTTGCCCTAAAACAAATAAATTC... | AAAGGCTCCTTACATAAGCAGTGATGGTATTTAGAGGTAACTATTTTAGGGGGTTCTTAACCACTAGGTACAGCAAAGTCACAAAACTCTACCTTATATAAACCTTGAACTACTGTTCTAACTGGCTCCTTCTACTTAATTATATTTAAAAATATAGTAATAAGCCCTCCCCTACAAAAAACATAATTAGCAATTTTGATGAAATATATAATTTTAGGAGTTCCAGTCAACCAGTAATACTTTGGTTTATTTCCCAAGTGAGAGAGTCTCAGTTATATCTCGCCAGAAGAGAAAAAACTTGCCCTAAAACAAATAAATTC... | pathogenic | 53,857 |
Is the chromosome 2, position 201761255 variant in ALS2 (alsin Rho guanine nucleotide exchange factor ALS2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Infantile-onset_ascending_hereditary_spastic_paralysis'] | ATTTAAAAATATAGTAATAAGCCCTCCCCTACAAAAAACATAATTAGCAATTTTGATGAAATATATAATTTTAGGAGTTCCAGTCAACCAGTAATACTTTGGTTTATTTCCCAAGTGAGAGAGTCTCAGTTATATCTCGCCAGAAGAGAAAAAACTTGCCCTAAAACAAATAAATTCCTTGTGAATTAGCTGTATGATTGAGATGTTATTTACAAAGAATAAATTAAATGTAATAGAAACACACATTTAATTTAAATAAATTAAATTTAATTCAATAGAAACACACACATTGTTACTAGCATAAGTAACAAAAACTTCCA... | ATTTAAAAATATAGTAATAAGCCCTCCCCTACAAAAAACATAATTAGCAATTTTGATGAAATATATAATTTTAGGAGTTCCAGTCAACCAGTAATACTTTGGTTTATTTCCCAAGTGAGAGAGTCTCAGTTATATCTCGCCAGAAGAGAAAAAACTTGCCCTAAAACAAATAAATTCCTTGTGAATTAGCTGTATGATTGAGATGTTATTTACAAAGAATAAATTAAATGTAATAGAAACACACATTTAATTTAAATAAATTAAATTTAATTCAATAGAAACACACACATTGTTACTAGCATAAGTAACAAAAACTTCCA... | pathogenic | 53,858 |
Mutation at chromosome 2, position 202376511, within BMPR2: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCACTTTGGGAGGTCGAGACGGGCGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCCGCCTGTAATCTCAGCTACTCGGGAGGTTCAGGCCGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTCGAGATCGCGCCACTGCACCGCAGCCTGGTCGACAGAGCAAGACTCCGCCTCAATAAATAAATAAATAAATAAATAAAACCTAAATAAATAAAGCTAATGAATCAAAGCATATGCTCTTCGTCT... | GCACTTTGGGAGGTCGAGACGGGCGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCCGCCTGTAATCTCAGCTACTCGGGAGGTTCAGGCCGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTCGAGATCGCGCCACTGCACCGCAGCCTGGTCGACAGAGCAAGACTCCGCCTCAATAAATAAATAAATAAATAAATAAAACCTAAATAAATAAAGCTAATGAATCAAAGCATATGCTCTTCGTCT... | benign | 53,877 |
Does the genetic variant at chromosome 2, position 202377256, impacting gene BMPR2 (bone morphogenetic protein receptor type 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CACGCACGTCACCTTCTCCCCTCGCCGCCAGCAAAATCCCACCCACGTCGGCTGACCCCGCAGCGGGGTGTAAGGGCGGGAGGGATCCCGTCTCCTATACTGGTCGCTTGTACAAACCAGATCCAAAAAACGCACTACACAAATCCTTGGAAACTGCGGTACCAACGGGATCTTCTCAATTCCTTGAGTGCAAAATGATCCCACTCTCTATCCCGACACAACTCTAACTCCATTTTCCTTTCACGTGCCCTAAAAAGCCCTCAAGGCCCCCAGCCTTGGTGAATCCAGGCCCTCTCTCGGGGTGGGCACCGCGCTGTACG... | CACGCACGTCACCTTCTCCCCTCGCCGCCAGCAAAATCCCACCCACGTCGGCTGACCCCGCAGCGGGGTGTAAGGGCGGGAGGGATCCCGTCTCCTATACTGGTCGCTTGTACAAACCAGATCCAAAAAACGCACTACACAAATCCTTGGAAACTGCGGTACCAACGGGATCTTCTCAATTCCTTGAGTGCAAAATGATCCCACTCTCTATCCCGACACAACTCTAACTCCATTTTCCTTTCACGTGCCCTAAAAAGCCCTCAAGGCCCCCAGCCTTGGTGAATCCAGGCCCTCTCTCGGGGTGGGCACCGCGCTGTACG... | benign | 53,882 |
Variant in gene BMPR2 (bone morphogenetic protein receptor type 2), located at chromosome 2 position 202464883: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['BMPR2-related_disorder', 'Pulmonary_arterial_hypertension', 'Pulmonary_hypertension,_primary,_1', 'Pulmonary_venoocclusive_disease_1'] | CTGAATAGCTGGGATTACAGGCGTACACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGG... | CTGAATAGCTGGGATTACAGGCGTACACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGG... | pathogenic | 53,895 |
Variant in gene BMPR2 (bone morphogenetic protein receptor type 2), located at chromosome 2 position 202464915: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Primary_pulmonary_hypertension', 'Pulmonary_arterial_hypertension'] | ATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGA... | ATGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGA... | pathogenic | 53,898 |
Evaluate the clinical significance of the mutation at chromosome 2, position 202464972 in gene BMPR2 (bone morphogenetic protein receptor type 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Pulmonary_arterial_hypertension', 'Pulmonary_hypertension,_primary,_1'] | GCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGGAAGGAGGGCAACATCGGAATAGACAAATGGGAACAAG... | GCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGGAAGGAGGGCAACATCGGAATAGACAAATGGGAACAAG... | pathogenic | 53,901 |
Clinical classification of chromosome 2, position 202513675, gene BMPR2 (bone morphogenetic protein receptor type 2): benign or pathogenic? Disease(s) if pathogenic? | benign | ACTGTGGTAAAATGAGTTTTATATGTAGCTTTTCTGCCTGTAACTTACTCTGTATGTTAAAAGGAGGCACAATGATCAATGTGTTAAAATCTATTAATATCTGAAAAATGGGCTGGGCACAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCACATCAACTTGAGGCCAGGAGTTCAAGACCGATCTGGTTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTGCTACAAACCTATAATCCCAGCAACTCAGGAGGCTGAGGCACAAGAATTGCTTGAGTCTG... | ACTGTGGTAAAATGAGTTTTATATGTAGCTTTTCTGCCTGTAACTTACTCTGTATGTTAAAAGGAGGCACAATGATCAATGTGTTAAAATCTATTAATATCTGAAAAATGGGCTGGGCACAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCACATCAACTTGAGGCCAGGAGTTCAAGACCGATCTGGTTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTGCTACAAACCTATAATCCCAGCAACTCAGGAGGCTGAGGCACAAGAATTGCTTGAGTCTG... | benign | 53,910 |
Is the variant located on chromosome 2 at position 202520065, gene BMPR2 (bone morphogenetic protein receptor type 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGGGTTTTACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCAGCTCACTGCAACCTCCGTTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCATGATACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAC... | GGGGTTTTACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCAGCTCACTGCAACCTCCGTTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCATGATACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAC... | benign | 53,939 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 202530920, gene BMPR2 (bone morphogenetic protein receptor type 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Primary_pulmonary_hypertension', 'Pulmonary_hypertension,_primary,_1'] | CTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACAACTCAGACTTCACCAGAAAATTACTGTTAAGTAGTTTGTATATAGTCTTTCATGTCCTTGGGAGGGCAGGGGGATAGC... | CTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACAACTCAGACTTCACCAGAAAATTACTGTTAAGTAGTTTGTATATAGTCTTTCATGTCCTTGGGAGGGCAGGGGGATAGC... | pathogenic | 53,954 |
Does the chromosome 2 mutation at position 202532623 within gene BMPR2 (bone morphogenetic protein receptor type 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Primary_pulmonary_hypertension', 'Pulmonary_arterial_hypertension', 'Pulmonary_hypertension,_primary,_1', 'Pulmonary_venoocclusive_disease_1'] | TAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATG... | TAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATG... | pathogenic | 53,964 |
Classify the chromosome 2 variant at position 202555237 affecting gene BMPR2 (bone morphogenetic protein receptor type 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AGTTCATAAGCACTTCTATATAAATTGTCTCATTTATCCTTTGTTGTTATTCCTTCTTCCTCTGCTTTTTTTTTTAAGTAAATGGAACTATGAACTTGCCTATCTAACCACTGTTTCACTGACACTAAGGTTTGTAGACTTCCTATCTAATGCTCTTTCTTATAGAATATACTACTACTACTTTTATATGAAAGCAATTCAAAGGTCTTTCTGTTCCATCATTAATATTATTTTACAAGACATTTTCTTTGTTAGAACTATGATTTTTGGTTCTAAATAGAAAGGCTTTTTAAAAATTCCTACAATTTGGAACTTTCTAC... | AGTTCATAAGCACTTCTATATAAATTGTCTCATTTATCCTTTGTTGTTATTCCTTCTTCCTCTGCTTTTTTTTTTAAGTAAATGGAACTATGAACTTGCCTATCTAACCACTGTTTCACTGACACTAAGGTTTGTAGACTTCCTATCTAATGCTCTTTCTTATAGAATATACTACTACTACTTTTATATGAAAGCAATTCAAAGGTCTTTCTGTTCCATCATTAATATTATTTTACAAGACATTTTCTTTGTTAGAACTATGATTTTTGGTTCTAAATAGAAAGGCTTTTTAAAAATTCCTACAATTTGGAACTTTCTAC... | benign | 53,990 |
Mutation at chromosome 2, position 202555879, within BMPR2 (bone morphogenetic protein receptor type 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Idiopathic_and/or_familial_pulmonary_arterial_hypertension', 'Primary_pulmonary_hypertension', 'Pulmonary_arterial_hypertension'] | GTCACGAGCCACCACGCCCAGCTAATTTTGTATATTTATTAGAGACAGGGTTTCACCATGTTAGCCAGACTGGTCTCAAACTCCCGACCCCTGGTGATCTGCCTGCCTTGGCCTCCCAAAATGCTGGGATTATAGGCGACAGGTGTGAGCCACCGTGCCCGGCCTATTTTCTGTTCTAATTTGTGAAAGCTATTTGTATTAGCCATAGGTGAAAAATTTGGTTTGCACTACTTTTGTATAGGTCAAATTAGTTTCAAATATAAACTCTTATACCTTGTATATCAGCAAATCAAGAAAGTTAGACACTGGCAATTCTAATT... | GTCACGAGCCACCACGCCCAGCTAATTTTGTATATTTATTAGAGACAGGGTTTCACCATGTTAGCCAGACTGGTCTCAAACTCCCGACCCCTGGTGATCTGCCTGCCTTGGCCTCCCAAAATGCTGGGATTATAGGCGACAGGTGTGAGCCACCGTGCCCGGCCTATTTTCTGTTCTAATTTGTGAAAGCTATTTGTATTAGCCATAGGTGAAAAATTTGGTTTGCACTACTTTTGTATAGGTCAAATTAGTTTCAAATATAAACTCTTATACCTTGTATATCAGCAAATCAAGAAAGTTAGACACTGGCAATTCTAATT... | pathogenic | 54,004 |
Is the chromosome 2, position 202556243 variant in BMPR2 (bone morphogenetic protein receptor type 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Idiopathic_and/or_familial_pulmonary_arterial_hypertension', 'Primary_pulmonary_hypertension', 'Pulmonary_arterial_hypertension', 'Pulmonary_hypertension,_primary,_1'] | TTTATCTCCCCTCATCTCTGTATTTCCCATGTCCTCTAGTATGATGTTTTTACCTCTCTCAAAAGTCAGCTAAAGCTTTTATTTTGAATGCTTTCAAACTTTTCTTGAATGGTAAGAAAAAAAAACCTTGATGGCCCACCTTGATTTGGCCACTTTTCGCCTCCTGTGTCATTCGGCTCAACCTTCTGCATGCATCTTCTCATCTCCAGTCTCTACTAATAATTTCCTCAAAATTATAATTCATCCCATAGTTACGCTAACTCTAGGTTTTATTTTCCTGAGTCTTACCCTCCATGTCTCCTTAGCTTCCTTTTCTTGTA... | TTTATCTCCCCTCATCTCTGTATTTCCCATGTCCTCTAGTATGATGTTTTTACCTCTCTCAAAAGTCAGCTAAAGCTTTTATTTTGAATGCTTTCAAACTTTTCTTGAATGGTAAGAAAAAAAAACCTTGATGGCCCACCTTGATTTGGCCACTTTTCGCCTCCTGTGTCATTCGGCTCAACCTTCTGCATGCATCTTCTCATCTCCAGTCTCTACTAATAATTTCCTCAAAATTATAATTCATCCCATAGTTACGCTAACTCTAGGTTTTATTTTCCTGAGTCTTACCCTCCATGTCTCCTTAGCTTCCTTTTCTTGTA... | pathogenic | 54,014 |
Benign or pathogenic: chromosome 2, position 202560248, gene BMPR2 (bone morphogenetic protein receptor type 2) variant? Disease(s) if pathogenic? | benign | CCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCACCATGCCCTGCTAATTATTGTATTTTAGTAAAGGAGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACACTGGACTTCAGGTGATCCACCCACCTCAGTGTCCCACAGTGCTGGCATTACAGGCGTGAACCACTGCGCCCAGCCTATTTCTCTTTTAGACTAAGGCATTTATGAAAAAAAGTTATGTTTTATTGTCAAGGGCTACAAAATGGGCTTGAAGGAAGGATACAGGTCTCAAAACACAATCAGGAA... | CCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCACCATGCCCTGCTAATTATTGTATTTTAGTAAAGGAGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACACTGGACTTCAGGTGATCCACCCACCTCAGTGTCCCACAGTGCTGGCATTACAGGCGTGAACCACTGCGCCCAGCCTATTTCTCTTTTAGACTAAGGCATTTATGAAAAAAAGTTATGTTTTATTGTCAAGGGCTACAAAATGGGCTTGAAGGAAGGATACAGGTCTCAAAACACAATCAGGAA... | benign | 54,036 |
Is the genetic mutation found on chromosome 2 at position 206138551, within the gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_5'] | AGCTCACTGCAACCTCCGTCTTCTGGGTTCAAGCGATTCTCCACCCTCAGGCTCCCGAGTAGCTGGGATTACAGGTGCCCATCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCGGAAATTCCTTAGTTTCTTTCTTTTTTTCTTTTTTTTTTGAGACAGGGTTTCACTCCTGTTGCCCAGGCTGGAGTGCAATGGTGCAATC... | AGCTCACTGCAACCTCCGTCTTCTGGGTTCAAGCGATTCTCCACCCTCAGGCTCCCGAGTAGCTGGGATTACAGGTGCCCATCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCGGAAATTCCTTAGTTTCTTTCTTTTTTTCTTTTTTTTTTGAGACAGGGTTTCACTCCTGTTGCCCAGGCTGGAGTGCAATGGTGCAATC... | pathogenic | 54,122 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 206146939, gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1). What disease(s) is it linked to if pathogenic? | pathogenic | CCTGGTTTTATCAGAGATCCACTCTTCATTGATGTCCTCATGCATACGTGGCAAAATCCTCATCACTTCTCCAGTTCTTGTGCTAACCACAATATTACTTCCAACCGCATCCATTACATCAATGGATTCTGTCTTTCTGAGAAACACATACGGTGTTTACTATGGTGCTTTTGGGAATAAAGAAAGTTTCTGTTACCTGGTTTACCAAAAAATTTTTTTTACAATTAATTCCCTTTCTGAATTACTTTAAAAAATGAAGCTTAGAGGAACTGCAATTAAATAAAAGAACCCCCCACCTTTTTTTTTGCCCTGGGGTCTCA... | CCTGGTTTTATCAGAGATCCACTCTTCATTGATGTCCTCATGCATACGTGGCAAAATCCTCATCACTTCTCCAGTTCTTGTGCTAACCACAATATTACTTCCAACCGCATCCATTACATCAATGGATTCTGTCTTTCTGAGAAACACATACGGTGTTTACTATGGTGCTTTTGGGAATAAAGAAAGTTTCTGTTACCTGGTTTACCAAAAAATTTTTTTTACAATTAATTCCCTTTCTGAATTACTTTAAAAAATGAAGCTTAGAGGAACTGCAATTAAATAAAAGAACCCCCCACCTTTTTTTTTGCCCTGGGGTCTCA... | pathogenic | 54,134 |
Benign or pathogenic: chromosome 2, position 206147578, gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1) variant? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'NDUFS1-related_disorder'] | ACGATTCAACAAGAGGGGCAGGATTTCTGTCTATGGGAGATTAAGGAGCTCAAAAAACCTTCCCACTGAAAAGCAAAAGTAAAGCTGGCCAAAAATGACAAAACCCACCATTTCAGCAGTTTAGAAATCTAAACACATACAATGTGGGAAGCTTTTATGCACTGAAAAACTGGTGGCTGGGCTCAGTGCTCCTCCTATGCTCCTCTCCACCCCCTCAAAATGGAATTTCTTCGAGGCCGGGGCAGGCTGTGAAGATGAGAACTTCTTTGGTACAGATGGAGACAACTCACTTAACTTGGAGCACGAGGCAAACTTGTTTG... | ACGATTCAACAAGAGGGGCAGGATTTCTGTCTATGGGAGATTAAGGAGCTCAAAAAACCTTCCCACTGAAAAGCAAAAGTAAAGCTGGCCAAAAATGACAAAACCCACCATTTCAGCAGTTTAGAAATCTAAACACATACAATGTGGGAAGCTTTTATGCACTGAAAAACTGGTGGCTGGGCTCAGTGCTCCTCCTATGCTCCTCTCCACCCCCTCAAAATGGAATTTCTTCGAGGCCGGGGCAGGCTGTGAAGATGAGAACTTCTTTGGTACAGATGGAGACAACTCACTTAACTTGGAGCACGAGGCAAACTTGTTTG... | pathogenic | 54,137 |
The chromosome 2, position 206147852 genetic variant in gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GATGGAGACAACTCACTTAACTTGGAGCACGAGGCAAACTTGTTTGTGGAGGTGATACTTTGGAGGTCATCGTAGCTGAGGATAGCCAAGATTTTACCAGCCTAAGTTTGTAGTGGTAATTGCGGCAAGCATTCCTAACAGAGGCTGCTACATGTGCAGGTGAAACCAGAGAAAGCTCAACCTATTCATAAACTCCTGGATAACTCTGAGACCCAAAGGGCCCAGTGCAAAGTAATAGCTGGGCAAACTTGAAAACAGCCTCAACTTTGAATATGCTCCTCCATCCACAAACAGATCCATTGGCAAAGAACATAACTCTT... | GATGGAGACAACTCACTTAACTTGGAGCACGAGGCAAACTTGTTTGTGGAGGTGATACTTTGGAGGTCATCGTAGCTGAGGATAGCCAAGATTTTACCAGCCTAAGTTTGTAGTGGTAATTGCGGCAAGCATTCCTAACAGAGGCTGCTACATGTGCAGGTGAAACCAGAGAAAGCTCAACCTATTCATAAACTCCTGGATAACTCTGAGACCCAAAGGGCCCAGTGCAAAGTAATAGCTGGGCAAACTTGAAAACAGCCTCAACTTTGAATATGCTCCTCCATCCACAAACAGATCCATTGGCAAAGAACATAACTCTT... | benign | 54,141 |
Benign or pathogenic: chromosome 2, position 206149933, gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1) variant? Disease(s) if pathogenic? | benign | ACATTAACTGCTGGCACTCAAAATGACCTATAGACTTTATTTTTTTTTTTTGAGATGGTGTCTCGCTCTGTTGCTCAGGCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGC... | ACATTAACTGCTGGCACTCAAAATGACCTATAGACTTTATTTTTTTTTTTTGAGATGGTGTCTCGCTCTGTTGCTCAGGCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGC... | benign | 54,142 |
A genetic variant at chromosome 2, position 206149933, affecting gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ACATTAACTGCTGGCACTCAAAATGACCTATAGACTTTATTTTTTTTTTTTGAGATGGTGTCTCGCTCTGTTGCTCAGGCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGC... | ACATTAACTGCTGGCACTCAAAATGACCTATAGACTTTATTTTTTTTTTTTGAGATGGTGTCTCGCTCTGTTGCTCAGGCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGC... | benign | 54,143 |
Variant on chromosome 2, at position 206149933, affecting NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACATTAACTGCTGGCACTCAAAATGACCTATAGACTTTATTTTTTTTTTTTGAGATGGTGTCTCGCTCTGTTGCTCAGGCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGC... | ACATTAACTGCTGGCACTCAAAATGACCTATAGACTTTATTTTTTTTTTTTGAGATGGTGTCTCGCTCTGTTGCTCAGGCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGC... | benign | 54,144 |
Regarding the variant found on chromosome 2 at position 206149933 in gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACATTAACTGCTGGCACTCAAAATGACCTATAGACTTTATTTTTTTTTTTTGAGATGGTGTCTCGCTCTGTTGCTCAGGCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGC... | ACATTAACTGCTGGCACTCAAAATGACCTATAGACTTTATTTTTTTTTTTTGAGATGGTGTCTCGCTCTGTTGCTCAGGCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGC... | benign | 54,145 |
Is the genetic variant on chromosome 2, position 206150023, gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACTGTGCCAGGCCCACATATAGGCCATTTAAACAACCTTCATAGATGTATATTTGTTATACAATTAATAGTAATTTTACATTT... | TGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACTGTGCCAGGCCCACATATAGGCCATTTAAACAACCTTCATAGATGTATATTTGTTATACAATTAATAGTAATTTTACATTT... | benign | 54,147 |
The mutation in gene NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1) at chromosome 2, position 206150023—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACTGTGCCAGGCCCACATATAGGCCATTTAAACAACCTTCATAGATGTATATTTGTTATACAATTAATAGTAATTTTACATTT... | TGGCACAATCTTGGCTCACTGCAGCCTCCTGCCTCCACCTCTCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTATCTAGGATTACAGATGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCGCCCTGGCGTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACTGTGCCAGGCCCACATATAGGCCATTTAAACAACCTTCATAGATGTATATTTGTTATACAATTAATAGTAATTTTACATTT... | benign | 54,148 |
Gene FASTKD2 (FAST kinase domains 2) variant at chromosome 2, position 206767167—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Combined_oxidative_phosphorylation_deficiency_44'] | AAAAAACTTTGAATAAATCTATAGCAAAGCATGGAGCGGTCCGTATAGAGGCTGCCAAGCCGAGCGGCCATGGGAGGTGAGCTGTTGTCGGCGTTTTGAGCAATCTGCGGGCGGACGCGGGGATCACTCACCCGCGATGACGAATTTGGCCATGGTCGAGAGAGACTCAGAGGCAGGGACCGCGGCTTCGCGGTTTCCTGGCAACCACGCAGCCAAGGGCAAGGCGCAGGCGCACTACAAAGTCTGGCGCCCAGCAGAGGTTAGGTGTTTAAAGTTAGGACCTGAATGGGTTACGTTGCGATACACGATCAAACATCGCC... | AAAAAACTTTGAATAAATCTATAGCAAAGCATGGAGCGGTCCGTATAGAGGCTGCCAAGCCGAGCGGCCATGGGAGGTGAGCTGTTGTCGGCGTTTTGAGCAATCTGCGGGCGGACGCGGGGATCACTCACCCGCGATGACGAATTTGGCCATGGTCGAGAGAGACTCAGAGGCAGGGACCGCGGCTTCGCGGTTTCCTGGCAACCACGCAGCCAAGGGCAAGGCGCAGGCGCACTACAAAGTCTGGCGCCCAGCAGAGGTTAGGTGTTTAAAGTTAGGACCTGAATGGGTTACGTTGCGATACACGATCAAACATCGCC... | pathogenic | 54,190 |
A genetic variant on chromosome 2, position 206774408, affects the gene FASTKD2 (FAST kinase domains 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TTAAAACACTAATTCATGTAGCATTTTAAGTATTTCTCTTTCACCTTTATAGTAGTTAAGATACCAAAATATTCCAATGCTGAATTGACTTTTGAAAAATTAGCTCCTTATTATTCCTGTCTGGGGGCTACTTGCTAATATGAATAGTCCCCAACTTAGGATGGCTTGACTTAATATTTTTTGACTGTTTGATGTTGCAAAAGCAATACGCATTCAGTAGAAACCATACTTTGAATTTTGAATTTTGTTGTTTTGCTGGGTTAGTGATATGTTGTATGATGCTCTCTTTTCATGCTGAGCAGTGGCAGCAAGTCGCAGCT... | TTAAAACACTAATTCATGTAGCATTTTAAGTATTTCTCTTTCACCTTTATAGTAGTTAAGATACCAAAATATTCCAATGCTGAATTGACTTTTGAAAAATTAGCTCCTTATTATTCCTGTCTGGGGGCTACTTGCTAATATGAATAGTCCCCAACTTAGGATGGCTTGACTTAATATTTTTTGACTGTTTGATGTTGCAAAAGCAATACGCATTCAGTAGAAACCATACTTTGAATTTTGAATTTTGTTGTTTTGCTGGGTTAGTGATATGTTGTATGATGCTCTCTTTTCATGCTGAGCAGTGGCAGCAAGTCGCAGCT... | benign | 54,210 |
Evaluate if the mutation on chromosome 2 at position 206787921 in FASTKD2 (FAST kinase domains 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CAGCTGTTAAGAAACACTCCTCTGTACCTTCATCTCACCAGTTATTCACTATCAGGCAAGTAGCATGTGCTTTCAGGGCTGTGCTCAAATCTTCTTCCCTTATTCCATCTTTTCCACTTATTCAAATTCTCCTCCCAAAAGCTTCTGTTTATTTTCTTTCCTCTGCGAGATCACAGTACTTTGCATGTATTTCTTTTTTTATATAACTATATGTATCATATGCCCTGAGAATCAGATTGACGTGTGTTCAAAGGGTATCTACCATTTATTAGTGGTGTCACTCTGGGCAAGCGACTGCCCCTGATTTTGATCTTTTCTGT... | CAGCTGTTAAGAAACACTCCTCTGTACCTTCATCTCACCAGTTATTCACTATCAGGCAAGTAGCATGTGCTTTCAGGGCTGTGCTCAAATCTTCTTCCCTTATTCCATCTTTTCCACTTATTCAAATTCTCCTCCCAAAAGCTTCTGTTTATTTTCTTTCCTCTGCGAGATCACAGTACTTTGCATGTATTTCTTTTTTTATATAACTATATGTATCATATGCCCTGAGAATCAGATTGACGTGTGTTCAAAGGGTATCTACCATTTATTAGTGGTGTCACTCTGGGCAAGCGACTGCCCCTGATTTTGATCTTTTCTGT... | benign | 54,213 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 206787985, gene FASTKD2 (FAST kinase domains 2): what disease(s) if pathogenic? | pathogenic; ['Combined_oxidative_phosphorylation_deficiency_44'] | ATGTGCTTTCAGGGCTGTGCTCAAATCTTCTTCCCTTATTCCATCTTTTCCACTTATTCAAATTCTCCTCCCAAAAGCTTCTGTTTATTTTCTTTCCTCTGCGAGATCACAGTACTTTGCATGTATTTCTTTTTTTATATAACTATATGTATCATATGCCCTGAGAATCAGATTGACGTGTGTTCAAAGGGTATCTACCATTTATTAGTGGTGTCACTCTGGGCAAGCGACTGCCCCTGATTTTGATCTTTTCTGTCTTCATTTGTGCTTAACCACGTTATACTGTGTACCATTAGCTGTGGGTGGTAGGATTAGGCTTG... | ATGTGCTTTCAGGGCTGTGCTCAAATCTTCTTCCCTTATTCCATCTTTTCCACTTATTCAAATTCTCCTCCCAAAAGCTTCTGTTTATTTTCTTTCCTCTGCGAGATCACAGTACTTTGCATGTATTTCTTTTTTTATATAACTATATGTATCATATGCCCTGAGAATCAGATTGACGTGTGTTCAAAGGGTATCTACCATTTATTAGTGGTGTCACTCTGGGCAAGCGACTGCCCCTGATTTTGATCTTTTCTGTCTTCATTTGTGCTTAACCACGTTATACTGTGTACCATTAGCTGTGGGTGGTAGGATTAGGCTTG... | pathogenic | 54,214 |
Chromosome 2, position 206790691, gene FASTKD2 (FAST kinase domains 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAGGATTGCTTGAACCTGGGAAGTTGCTGCAGTGAGCTGAGATCACACTACTGCACTCCAGCCTGGATGACAGAGCGAGACCACATCTCAAAAAAAAAAAAAAAAAGGAAAAGAAAAGAAAAAGAAAGTCACTTGGAGGAATGTTTGAAAAATTAATATCAATTCTTTCCTTTCAGATTTTGAAATCAGAATGGACACTAACAGGAATCAAGTGCTACCACTTTCTGATGTGGATACAACTTCTGCTACAGATATTCAAAGGTTGCTTACATATATTTCATTTGCTGGGCTTTCTGAATTAAAATCCTAATTCTAAAAGA... | AAGGATTGCTTGAACCTGGGAAGTTGCTGCAGTGAGCTGAGATCACACTACTGCACTCCAGCCTGGATGACAGAGCGAGACCACATCTCAAAAAAAAAAAAAAAAAGGAAAAGAAAAGAAAAAGAAAGTCACTTGGAGGAATGTTTGAAAAATTAATATCAATTCTTTCCTTTCAGATTTTGAAATCAGAATGGACACTAACAGGAATCAAGTGCTACCACTTTCTGATGTGGATACAACTTCTGCTACAGATATTCAAAGGTTGCTTACATATATTTCATTTGCTGGGCTTTCTGAATTAAAATCCTAATTCTAAAAGA... | benign | 54,223 |
Gene FASTKD2 (FAST kinase domains 2) variant at chromosome 2, position 206791669—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CATACAAAAAAATCTGTAGGGATCCAAGCTCTTATCTGCCCATCCCTCTTCATTCACACACAGTTCTGTGACTTTCACCTCTTTCTGAATGCATCTAGCTTATTTCTTGGCCATCTTTTCAACCGCTGTCTTTCCTATTAGTGCTACCCATCTCCCCTCAGAAGAGGCTTTCTCTCTGACCTCATTCCAAGATCAGTTTTCTTTTTCGGGTACTCCGCTATTCTGGCATAATAAAATAACAGTTGTTCTCAGCATAAAGTCATGAGAAGTGAAGAATGTGAGCATTCCTTTAAAAACATAAAATTTGTCTTATAACAGCC... | CATACAAAAAAATCTGTAGGGATCCAAGCTCTTATCTGCCCATCCCTCTTCATTCACACACAGTTCTGTGACTTTCACCTCTTTCTGAATGCATCTAGCTTATTTCTTGGCCATCTTTTCAACCGCTGTCTTTCCTATTAGTGCTACCCATCTCCCCTCAGAAGAGGCTTTCTCTCTGACCTCATTCCAAGATCAGTTTTCTTTTTCGGGTACTCCGCTATTCTGGCATAATAAAATAACAGTTGTTCTCAGCATAAAGTCATGAGAAGTGAAGAATGTGAGCATTCCTTTAAAAACATAAAATTTGTCTTATAACAGCC... | benign | 54,228 |
Does the genetic variant at chromosome 2, position 208121722, impacting gene CRYGD, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Aculeiform_cataract'] | CAGAATAAGAGGTAGGAAAAGAACCAATGTAAGTGAATATATTGTAGGACAGCCTTATACATAGTATATTGACACACACAAACGTACATTGGATGAGGTTATATAAATATATATAACTGTATGTGTGTGCCCATGTGTATTCAGAGAATGCAGCTTTGGATTATTCAATATTTTTAATTCAATTCCTGGTTGGTTGTTTGCAACGACCTCATGGTAAGAATCTATGATTTAGTGTTGTCATTACTTTCACAAAATTTCACAATAGATTTTATAAAATCTTCCTGATTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTG... | CAGAATAAGAGGTAGGAAAAGAACCAATGTAAGTGAATATATTGTAGGACAGCCTTATACATAGTATATTGACACACACAAACGTACATTGGATGAGGTTATATAAATATATATAACTGTATGTGTGTGCCCATGTGTATTCAGAGAATGCAGCTTTGGATTATTCAATATTTTTAATTCAATTCCTGGTTGGTTGTTTGCAACGACCTCATGGTAAGAATCTATGATTTAGTGTTGTCATTACTTTCACAAAATTTCACAATAGATTTTATAAAATCTTCCTGATTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTG... | pathogenic | 54,251 |
Considering the genetic mutation at chromosome 2, position 209813703, impacting UNC80 (unc-80 homolog, NALCN channel complex subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2'] | TTTTCATATGACTGCCAACTCACTTCTGTGTTTGAACTTCAGTTTATATTTATTTCCTACTTGTCAAAATATTCAAGAATATTAGACTGTAAGATAGCATTGAAATTCAAAACCATTGTGTACACAGGCAATTGTACCTCAATCCATCAGACAATGCTATTAACAAGAGAAAAAATAATAAAGTATGGTATGTGCTTCGATAGGGAAGTAGAAGAGCTGTAAAAATAATTTGCAGGGCACAGATACGGTTTGGATTTGTATTTTTGAACTTTTTACTGAAACCCACAGTCAGAAATGTATTTTACCAATGACTCAAAACA... | TTTTCATATGACTGCCAACTCACTTCTGTGTTTGAACTTCAGTTTATATTTATTTCCTACTTGTCAAAATATTCAAGAATATTAGACTGTAAGATAGCATTGAAATTCAAAACCATTGTGTACACAGGCAATTGTACCTCAATCCATCAGACAATGCTATTAACAAGAGAAAAAATAATAAAGTATGGTATGTGCTTCGATAGGGAAGTAGAAGAGCTGTAAAAATAATTTGCAGGGCACAGATACGGTTTGGATTTGTATTTTTGAACTTTTTACTGAAACCCACAGTCAGAAATGTATTTTACCAATGACTCAAAACA... | pathogenic | 54,396 |
Chromosome 2, position 209816928, gene UNC80 (unc-80 homolog, NALCN channel complex subunit): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2'] | AATATAATCTGTTTTAGTAGTAGATATTCTGCCTAAGTGGATATCTGCTTTACTGAATCATTCAATGGAAAAAACAAAACAAAACACTCTTTTTAATTAAAAAAAAAAGAGAGATCCATCTTCTCTCTATTTTCTTAGCATTCTAAATCTGGGGCTACATGACCTCACTACTGAAAACTTCAAACAGAAATTACAATTAATATGAAATATATATTCTCACTAGCAGAATTTGGATTCCAGAAGTCCAGACATACAAGTTCAATTGTTCAAAGATGTCAAAGCTATAGGCGCATCCCTATTAAAAATGTGACATTTCAATA... | AATATAATCTGTTTTAGTAGTAGATATTCTGCCTAAGTGGATATCTGCTTTACTGAATCATTCAATGGAAAAAACAAAACAAAACACTCTTTTTAATTAAAAAAAAAAGAGAGATCCATCTTCTCTCTATTTTCTTAGCATTCTAAATCTGGGGCTACATGACCTCACTACTGAAAACTTCAAACAGAAATTACAATTAATATGAAATATATATTCTCACTAGCAGAATTTGGATTCCAGAAGTCCAGACATACAAGTTCAATTGTTCAAAGATGTCAAAGCTATAGGCGCATCCCTATTAAAAATGTGACATTTCAATA... | pathogenic | 54,399 |
Variant chromosome 2, position 209817911, gene UNC80: benign or pathogenic? Disease(s)? | pathogenic | CTAGTTAAATACGTTATATTTTTCTGCCATTACTCTGCCTCTCTTTTTTGTAAGTAATTGGAGATAAACAGAAAATAATATGTGTAGACCTGTGTATATGTATATATATAGTGGTTTGCTTTCTCTTTTTCAAAACTGTTAGTTTAGTTATGCCAACAAAGAACACAGAACACGATATTAACTTATTATGAGCTGAAAGTGTTGCTAAGTAAGCAGTTTTCTGCCTTTGTTAATGATGCAACAAAAGACAATGGCTATCAATTTTCTTAAAACATTGATCATTTGAAAGGAAAAAAGTGGTTTTCAATACAGGCTGCATA... | CTAGTTAAATACGTTATATTTTTCTGCCATTACTCTGCCTCTCTTTTTTGTAAGTAATTGGAGATAAACAGAAAATAATATGTGTAGACCTGTGTATATGTATATATATAGTGGTTTGCTTTCTCTTTTTCAAAACTGTTAGTTTAGTTATGCCAACAAAGAACACAGAACACGATATTAACTTATTATGAGCTGAAAGTGTTGCTAAGTAAGCAGTTTTCTGCCTTTGTTAATGATGCAACAAAAGACAATGGCTATCAATTTTCTTAAAACATTGATCATTTGAAAGGAAAAAAGTGGTTTTCAATACAGGCTGCATA... | pathogenic | 54,404 |
Determine whether the variant at chromosome 2, position 209896397, in gene UNC80 (unc-80 homolog, NALCN channel complex subunit) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic | ACACTGTCACTGACCTAGGTAACATAGAGGAGTGGGGTGTGCAGGGACGTGGGGGGTAGGAAGACAGGGCCCAAGTCCCAAAAGAGCTGAAGTCCATTTTCTTACACATAAATAGATGGAGGGCAGAGCCATAGGATAGACAACCTGTTCAGCCTGAAAACCATACTACCCTTGGTAGAGCAAGGCAGCTCAAGCCTTGATGTGCATATGGGTCACTGGAGAGGCTTGTTAAAATGCAGATTCTGATTCAGCAGATCTGGGGTGGGGATCTGAGATTCTACATGTTTAACAAGCTTTCTGGTGGAGCCGATGCTGCTGAT... | ACACTGTCACTGACCTAGGTAACATAGAGGAGTGGGGTGTGCAGGGACGTGGGGGGTAGGAAGACAGGGCCCAAGTCCCAAAAGAGCTGAAGTCCATTTTCTTACACATAAATAGATGGAGGGCAGAGCCATAGGATAGACAACCTGTTCAGCCTGAAAACCATACTACCCTTGGTAGAGCAAGGCAGCTCAAGCCTTGATGTGCATATGGGTCACTGGAGAGGCTTGTTAAAATGCAGATTCTGATTCAGCAGATCTGGGGTGGGGATCTGAGATTCTACATGTTTAACAAGCTTTCTGGTGGAGCCGATGCTGCTGAT... | pathogenic | 54,436 |
Benign or pathogenic: chromosome 2, position 209922288, gene UNC80 (unc-80 homolog, NALCN channel complex subunit) variant? Disease(s) if pathogenic? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2'] | GATCCTCCATAAAGGGATTATCTACAAATGCAGCCCTGTAGAAGAGTAATCAACATCCCCTGCCTGTCTCTTGAACCCTGTGTGACTATAAGCCAACAAAGAGTTCTGGAATTGCCATTGTGCATAAACATTACTTCAAGTGGATAGAGAAGAACTCCAGTGATCACTTCCCTGCTCAGAGGCCACTGACTCTGTCTCCAAAGCTCTTGGAGCTTGTCTGGGCATAAGCATCATAATTAAGACATGAATAGAATAGCTGTTGTACAGTGAATCTTCTTTTCTTCATTGTTCCTGATCCTTCATCTATGGAGGAGTGAGTT... | GATCCTCCATAAAGGGATTATCTACAAATGCAGCCCTGTAGAAGAGTAATCAACATCCCCTGCCTGTCTCTTGAACCCTGTGTGACTATAAGCCAACAAAGAGTTCTGGAATTGCCATTGTGCATAAACATTACTTCAAGTGGATAGAGAAGAACTCCAGTGATCACTTCCCTGCTCAGAGGCCACTGACTCTGTCTCCAAAGCTCTTGGAGCTTGTCTGGGCATAAGCATCATAATTAAGACATGAATAGAATAGCTGTTGTACAGTGAATCTTCTTTTCTTCATTGTTCCTGATCCTTCATCTATGGAGGAGTGAGTT... | pathogenic | 54,443 |
Does the genetic variant at chromosome 2, position 209959601, impacting gene UNC80 (unc-80 homolog, NALCN channel complex subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2'] | ATGTGTGCTTCAGTAACTTGAGGATTTAATAAATGTTTCCATTTCTGTTGTTGTTGTTGTTTTGCTGTGGTGATTACTGTCATTGTTACAGGCCCATGACAGCCCCACAGATGAGCAGGTGTGACCAAGGTCATAAGGGAACCACCACAGCCAATCACACCATGTCGTCTGGGGTGAACACCAGGTAATTCACTGCGCCTTATTCTTCTATGGTCTCTCAATTTCATACAACCCGAATGTCAGCTGTTGAGAATGAAAGGAACCCTGAACATAGTCAATATTGAGTGTGAAAACCTCCAAGGAAAAGAAAAGAAGGTGAG... | ATGTGTGCTTCAGTAACTTGAGGATTTAATAAATGTTTCCATTTCTGTTGTTGTTGTTGTTTTGCTGTGGTGATTACTGTCATTGTTACAGGCCCATGACAGCCCCACAGATGAGCAGGTGTGACCAAGGTCATAAGGGAACCACCACAGCCAATCACACCATGTCGTCTGGGGTGAACACCAGGTAATTCACTGCGCCTTATTCTTCTATGGTCTCTCAATTTCATACAACCCGAATGTCAGCTGTTGAGAATGAAAGGAACCCTGAACATAGTCAATATTGAGTGTGAAAACCTCCAAGGAAAAGAAAAGAAGGTGAG... | pathogenic | 54,462 |
Is the variant located on chromosome 2 at position 209967419, gene UNC80 (unc-80 homolog, NALCN channel complex subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TATACTGATCTCTCTACCTTTTTATATGTTTGAGATTTTCCAAAATAAAAGTTAAAAATATACAGATTTCTGGGCCCAGACCAGACCTTAGAAGTTTTTTGTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCTCCTCAGCCTCCCGAGTAGTTGGGATTACGGGTGCCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGG... | TATACTGATCTCTCTACCTTTTTATATGTTTGAGATTTTCCAAAATAAAAGTTAAAAATATACAGATTTCTGGGCCCAGACCAGACCTTAGAAGTTTTTTGTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCTCCTCAGCCTCCCGAGTAGTTGGGATTACGGGTGCCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGG... | benign | 54,463 |
Does the genetic variant at chromosome 2, position 209976226, impacting gene UNC80 (unc-80 homolog, NALCN channel complex subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | CTGATGAAAATGAGTCCTTGGAGTTTGGAGTATGGAGGGGTGTTTGAACTGCCTTATAATGGGATGTGTTTGAAAATGAGGGGATTGACAATGAAAATGAAAAAGGAGAAAAAGACACAAGGAATGCATGTACCTAGGACTAACCCATATGGATGCTCAGTTGGCCAAGGTATACAAAAGTAGAATTCAAATCTAAGCTCTATCATAGAGCCCTACATGAAGTTTAGGATTGCACAGAGGATGATGGAGGAAAGGGGCTCACCATGTACAGGAAGGATATGAGAAGACACTTGATGAGTTTCTGTCCTCTCCACTGTCTG... | CTGATGAAAATGAGTCCTTGGAGTTTGGAGTATGGAGGGGTGTTTGAACTGCCTTATAATGGGATGTGTTTGAAAATGAGGGGATTGACAATGAAAATGAAAAAGGAGAAAAAGACACAAGGAATGCATGTACCTAGGACTAACCCATATGGATGCTCAGTTGGCCAAGGTATACAAAAGTAGAATTCAAATCTAAGCTCTATCATAGAGCCCTACATGAAGTTTAGGATTGCACAGAGGATGATGGAGGAAAGGGGCTCACCATGTACAGGAAGGATATGAGAAGACACTTGATGAGTTTCTGTCCTCTCCACTGTCTG... | pathogenic | 54,469 |
Chromosome 2, position 209976301, gene UNC80 (unc-80 homolog, NALCN channel complex subunit): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_1', 'Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2'] | ATGAGGGGATTGACAATGAAAATGAAAAAGGAGAAAAAGACACAAGGAATGCATGTACCTAGGACTAACCCATATGGATGCTCAGTTGGCCAAGGTATACAAAAGTAGAATTCAAATCTAAGCTCTATCATAGAGCCCTACATGAAGTTTAGGATTGCACAGAGGATGATGGAGGAAAGGGGCTCACCATGTACAGGAAGGATATGAGAAGACACTTGATGAGTTTCTGTCCTCTCCACTGTCTGCCTTTTCAGTAAAGAGTTGTTTTTACTTTGTTACATGGCCAGGCTACTGAACCTGTATTTTAAGTTTGTTTTTAC... | ATGAGGGGATTGACAATGAAAATGAAAAAGGAGAAAAAGACACAAGGAATGCATGTACCTAGGACTAACCCATATGGATGCTCAGTTGGCCAAGGTATACAAAAGTAGAATTCAAATCTAAGCTCTATCATAGAGCCCTACATGAAGTTTAGGATTGCACAGAGGATGATGGAGGAAAGGGGCTCACCATGTACAGGAAGGATATGAGAAGACACTTGATGAGTTTCTGTCCTCTCCACTGTCTGCCTTTTCAGTAAAGAGTTGTTTTTACTTTGTTACATGGCCAGGCTACTGAACCTGTATTTTAAGTTTGTTTTTAC... | pathogenic | 54,470 |
Determine whether the variant at chromosome 2, position 210556728, in gene CPS1 (carbamoyl-phosphate synthase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAGAAAAAAAAACTTAAAAAGAAAAGTTTCCATAATGAGGATTGAGTTTATATCGTTTTCTTAATTAAGGAAAGACAACCCTCACTACACACACACACACACACACACACACACACATAAAAAGACAAGAGGTGAGATCAAGGCGTAAACTAGTATTGGACTAAGCCAGTAAGTACTGCTTCTCAGTCCTCAGTTCTCTAGGTTGGGAGTTTTCCTTTTGCTATTTTCATTCTCCTCCAATTCATTTTT... | GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAGAAAAAAAAACTTAAAAAGAAAAGTTTCCATAATGAGGATTGAGTTTATATCGTTTTCTTAATTAAGGAAAGACAACCCTCACTACACACACACACACACACACACACACACACATAAAAAGACAAGAGGTGAGATCAAGGCGTAAACTAGTATTGGACTAAGCCAGTAAGTACTGCTTCTCAGTCCTCAGTTCTCTAGGTTGGGAGTTTTCCTTTTGCTATTTTCATTCTCCTCCAATTCATTTTT... | benign | 54,512 |
Variant in gene CPS1 (carbamoyl-phosphate synthase 1), located at chromosome 2 position 210576411: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | GGGGCATTAGGTTCACTGATACTGAATATACTAATTGACCAAACTTCCATTATATTATTAATTTATATTCTTTCTTAAACTCTTGCCTCCCTGTGTGAAATGAAGAATATTAGAGGGGTTTTTAAATAGTTCCACTGGTGAGAACATTAAATTACAGTGTATGAAATCTGTTTGCAAAGTTTTGCTTCACCAGGCAATTATTTAAACTTTTCGACAGCACTAATTACTAGCTGTGTTAATATACCTGCCAACAAACAACTGTTTAATATAGATCAGCATGATGGAGGGCACTAGAGTTTTCTTCTCTGTGATAGTTTACA... | GGGGCATTAGGTTCACTGATACTGAATATACTAATTGACCAAACTTCCATTATATTATTAATTTATATTCTTTCTTAAACTCTTGCCTCCCTGTGTGAAATGAAGAATATTAGAGGGGTTTTTAAATAGTTCCACTGGTGAGAACATTAAATTACAGTGTATGAAATCTGTTTGCAAAGTTTTGCTTCACCAGGCAATTATTTAAACTTTTCGACAGCACTAATTACTAGCTGTGTTAATATACCTGCCAACAAACAACTGTTTAATATAGATCAGCATGATGGAGGGCACTAGAGTTTTCTTCTCTGTGATAGTTTACA... | pathogenic | 54,523 |
Variant in CPS1 (carbamoyl-phosphate synthase 1), chromosome 2, position 210582680—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Congenital_hyperammonemia,_type_I'] | CAAACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCATCTCTACTAAATATACAAAAACTAGCCAGTTATAGTGGTGCACACCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAACCTGGGCGACTACAGGACCCTGTCTCAAAAAAAAAAAAAAAAAGTACATATGGGAAAAGGAGTCTTCAAAAAATTTTTTTGTAGATTTCTTGTTAGGATATATACATATATATATTGAC... | CAAACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCATCTCTACTAAATATACAAAAACTAGCCAGTTATAGTGGTGCACACCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAACCTGGGCGACTACAGGACCCTGTCTCAAAAAAAAAAAAAAAAAGTACATATGGGAAAAGGAGTCTTCAAAAAATTTTTTTGTAGATTTCTTGTTAGGATATATACATATATATATTGAC... | pathogenic | 54,532 |
The genetic variant at chromosome 2, position 210590123, affecting gene CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Congenital_hyperammonemia,_type_I'] | CAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAACAATGTAATCCGCCTGCTAGTAAAGGTAAGTAATTTGTTCATTTCAAAGGTGAGGGTTTGTCATATTGACCATTAGTGTTCAGCTAATTTCCTCTGTCACAGAGAAACTTATGCATTCTTTCAGAATGTCAGGGGTCTACATTCTTCTTGTTGCTTTTGATTTACAAAATAACACATTTATCCCTGTTCAAATTAAAAATATAGACTGCTATGTTTTTTCTTTAAAAAAAAAACCTCAAGGGCCACTAAAACATGGAAGAAAATGATGACTG... | CAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAACAATGTAATCCGCCTGCTAGTAAAGGTAAGTAATTTGTTCATTTCAAAGGTGAGGGTTTGTCATATTGACCATTAGTGTTCAGCTAATTTCCTCTGTCACAGAGAAACTTATGCATTCTTTCAGAATGTCAGGGGTCTACATTCTTCTTGTTGCTTTTGATTTACAAAATAACACATTTATCCCTGTTCAAATTAAAAATATAGACTGCTATGTTTTTTCTTTAAAAAAAAAACCTCAAGGGCCACTAAAACATGGAAGAAAATGATGACTG... | pathogenic | 54,538 |
Evaluate if the mutation on chromosome 2 at position 210590823 in CPS1 (carbamoyl-phosphate synthase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | CATGCGTATTGGGAGACTCTTCATCGTACCTCCTTATTAGAGAATACCAGCAATATTCAAATCATGATTTCAAATTCTTGTCAATTTTATTAACAAACATTTGCATGGATAGCATGCATGGTAGCAGATGCTGTGGATGGCCTGTGTATATCTCAATCTCAAGTTACCATTTTAATTCATGTTGCCCATCTTCCAATTGCAAATATCTATATCTCTTTGCCTGATGGCTGGAGCCTACTGGCAGGCAGTAAATGGCATAGAATTAATGATCTCTGGAGTAGCCCCCAACCAAAGCACAGAAAAAGCCAGTGTTTAACCAC... | CATGCGTATTGGGAGACTCTTCATCGTACCTCCTTATTAGAGAATACCAGCAATATTCAAATCATGATTTCAAATTCTTGTCAATTTTATTAACAAACATTTGCATGGATAGCATGCATGGTAGCAGATGCTGTGGATGGCCTGTGTATATCTCAATCTCAAGTTACCATTTTAATTCATGTTGCCCATCTTCCAATTGCAAATATCTATATCTCTTTGCCTGATGGCTGGAGCCTACTGGCAGGCAGTAAATGGCATAGAATTAATGATCTCTGGAGTAGCCCCCAACCAAAGCACAGAAAAAGCCAGTGTTTAACCAC... | pathogenic | 54,542 |
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