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 |
|---|---|---|---|---|---|
A genetic alteration at chromosome 6, position 80106795, in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1B'] | CTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTG... | CTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTG... | pathogenic | 110,752 |
Regarding the variant found on chromosome 6 at position 80106844 in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | CCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTGTTTGCACTATTCTAGGACTCCTATCACATTGGATTGTAGTTGCCTAATC... | CCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCACTTTGTTTGCACTATTCTAGGACTCCTATCACATTGGATTGTAGTTGCCTAATC... | pathogenic | 110,754 |
Does the chromosome 6 mutation at position 80127535 within gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AAGAAGCCTAGCTTTCAGACTCTCTGGACTTTCAGCATGCCTTCCGTACTTAGCTTAGTCATTTCTAACTTACGATTTAAAGTGAGAGATATGCAGCTCCTCCTTTCACTTGAAAACTTAGAGATCACTGTAGGTCTAATTTTCATATTATTATGTCTCAGGGAATAGGGAAGCCTGAAGAAAGGGAGAGATAAAGGAGAATGACTGGTCAGTGGATCAGTGAGAACACATACAACATTTATTGAGGTTACTAATGTAATTGTCTTGGGGTGCCATGGCAGAATGTCAGAAGGCTGTGGCACCCCAAGACACTATAACCT... | AAGAAGCCTAGCTTTCAGACTCTCTGGACTTTCAGCATGCCTTCCGTACTTAGCTTAGTCATTTCTAACTTACGATTTAAAGTGAGAGATATGCAGCTCCTCCTTTCACTTGAAAACTTAGAGATCACTGTAGGTCTAATTTTCATATTATTATGTCTCAGGGAATAGGGAAGCCTGAAGAAAGGGAGAGATAAAGGAGAATGACTGGTCAGTGGATCAGTGAGAACACATACAACATTTATTGAGGTTACTAATGTAATTGTCTTGGGGTGCCATGGCAGAATGTCAGAAGGCTGTGGCACCCCAAGACACTATAACCT... | benign | 110,761 |
Evaluate this variant at chromosome 6, position 80127621, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Maple_syrup_urine_disease'] | AGATATGCAGCTCCTCCTTTCACTTGAAAACTTAGAGATCACTGTAGGTCTAATTTTCATATTATTATGTCTCAGGGAATAGGGAAGCCTGAAGAAAGGGAGAGATAAAGGAGAATGACTGGTCAGTGGATCAGTGAGAACACATACAACATTTATTGAGGTTACTAATGTAATTGTCTTGGGGTGCCATGGCAGAATGTCAGAAGGCTGTGGCACCCCAAGACACTATAACCTCAAAGATCATTGATCAGAGATCATGATAACAGATGTAATAGTAATGAAAAAGTTTGAAATATTGTGAGAATTATGAAAATGTGATT... | AGATATGCAGCTCCTCCTTTCACTTGAAAACTTAGAGATCACTGTAGGTCTAATTTTCATATTATTATGTCTCAGGGAATAGGGAAGCCTGAAGAAAGGGAGAGATAAAGGAGAATGACTGGTCAGTGGATCAGTGAGAACACATACAACATTTATTGAGGTTACTAATGTAATTGTCTTGGGGTGCCATGGCAGAATGTCAGAAGGCTGTGGCACCCCAAGACACTATAACCTCAAAGATCATTGATCAGAGATCATGATAACAGATGTAATAGTAATGAAAAAGTTTGAAATATTGTGAGAATTATGAAAATGTGATT... | pathogenic | 110,763 |
Is the genetic mutation found on chromosome 6 at position 80129164, within the gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maple_syrup_urine_disease'] | GTTTTATGGTCCATGACCATTTGCTGTTGACGTATTTAGCACATGCCACTGGTCATGCACATTCCTTATGGCTTAGGTTCCTAACACCTGTCTGTGCTTCTTCCCAGACCACTCACTTTGACGGGTCTCCCTTTCTGACTTTCCATAGGTCTTATTGTCTACACGCATTTAGTCACTTGGTTATATTCCTTCTTCCTGTTTTATACTTTTACAAAAAATTGTTTAATATGGGTAAATTTTGCCCCATTAACAAGCTTCTCCAGGTCTGTATTGCTTTTGTATCTTATAGTATTATTGTAAATAATTCAGCAATTTGCATA... | GTTTTATGGTCCATGACCATTTGCTGTTGACGTATTTAGCACATGCCACTGGTCATGCACATTCCTTATGGCTTAGGTTCCTAACACCTGTCTGTGCTTCTTCCCAGACCACTCACTTTGACGGGTCTCCCTTTCTGACTTTCCATAGGTCTTATTGTCTACACGCATTTAGTCACTTGGTTATATTCCTTCTTCCTGTTTTATACTTTTACAAAAAATTGTTTAATATGGGTAAATTTTGCCCCATTAACAAGCTTCTCCAGGTCTGTATTGCTTTTGTATCTTATAGTATTATTGTAAATAATTCAGCAATTTGCATA... | pathogenic | 110,766 |
Considering the genetic mutation at chromosome 6, position 80129215, impacting BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Maple_syrup_urine_disease'] | GTCATGCACATTCCTTATGGCTTAGGTTCCTAACACCTGTCTGTGCTTCTTCCCAGACCACTCACTTTGACGGGTCTCCCTTTCTGACTTTCCATAGGTCTTATTGTCTACACGCATTTAGTCACTTGGTTATATTCCTTCTTCCTGTTTTATACTTTTACAAAAAATTGTTTAATATGGGTAAATTTTGCCCCATTAACAAGCTTCTCCAGGTCTGTATTGCTTTTGTATCTTATAGTATTATTGTAAATAATTCAGCAATTTGCATAATATCTTTCTTTGTACCTTGATTTTAGTCAAGTTGTAATTAACTGTTAAGA... | GTCATGCACATTCCTTATGGCTTAGGTTCCTAACACCTGTCTGTGCTTCTTCCCAGACCACTCACTTTGACGGGTCTCCCTTTCTGACTTTCCATAGGTCTTATTGTCTACACGCATTTAGTCACTTGGTTATATTCCTTCTTCCTGTTTTATACTTTTACAAAAAATTGTTTAATATGGGTAAATTTTGCCCCATTAACAAGCTTCTCCAGGTCTGTATTGCTTTTGTATCTTATAGTATTATTGTAAATAATTCAGCAATTTGCATAATATCTTTCTTTGTACCTTGATTTTAGTCAAGTTGTAATTAACTGTTAAGA... | pathogenic | 110,767 |
Does the variant impacting BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on chromosome 6, position 80167678, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A', 'Maple_syrup_urine_disease_type_1B'] | TAATGAAATTCTGGCATGAGCTGAGAGGTGGTGAAACGTCAAGTGAGAATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTT... | TAATGAAATTCTGGCATGAGCTGAGAGGTGGTGAAACGTCAAGTGAGAATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTT... | pathogenic | 110,773 |
A genetic variant at chromosome 6, position 80167685, affecting gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | ATTCTGGCATGAGCTGAGAGGTGGTGAAACGTCAAGTGAGAATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCAC... | ATTCTGGCATGAGCTGAGAGGTGGTGAAACGTCAAGTGAGAATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCAC... | pathogenic | 110,774 |
Is the variant located on chromosome 6 at position 80167698, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Maple_syrup_urine_disease'] | CTGAGAGGTGGTGAAACGTCAAGTGAGAATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGA... | CTGAGAGGTGGTGAAACGTCAAGTGAGAATTGAATTATACGCTAATAAAATTGTACCTAGTGGTTCGAATGGATCGTCTAAAGGGTTTATCAAACTTCTCTAATTTGAAGGGTCTCAAACTCCAAAATCTGCCTCCTTGTTGGTGGGCACAGCTCTTTTAACTGGGAGAGATTATTTGCTGCTGGGCTTTTGGAGTGTCCTGTGGGCACAAGTGTTGGCAAGGATTTGATCAGTTTTTGCACAGATTTTGGGGCTCCTCCATGCTGTGCCCTTCTTTTAGGGATTTAGTCTCTCAATTTTCAACCACTGGTAGCCACAGA... | pathogenic | 110,775 |
Variant in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), located at chromosome 6 position 80168946: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | ACATGTTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGT... | ACATGTTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGT... | pathogenic | 110,795 |
Mutation found at chromosome 6 position 80168979, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | CTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTT... | CTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTT... | pathogenic | 110,798 |
A genetic variant at chromosome 6, position 80168988, affecting gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1B'] | TTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTTTTTTTTAAC... | TTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTTTTTTTTAAC... | pathogenic | 110,800 |
Variant at chromosome 6, position 80168989, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A', 'Maple_syrup_urine_disease_type_1B'] | TTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTTTTTTTTAACA... | TTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTTTTTTTTAACA... | pathogenic | 110,801 |
The mutation impacting BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on chromosome 6 at position 80169003: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1B'] | TTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTTTTTTTTAACAACCTTTCTCTGTCT... | TTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTTTTTTTTAACAACCTTTCTCTGTCT... | pathogenic | 110,802 |
Variant at chromosome 6, position 80171309, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | GCATTGATTAATTTTATAGACTTCAAAGAATAAGACCAAGAACATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATCTCCTTTTTATAACCTGTCTT... | GCATTGATTAATTTTATAGACTTCAAAGAATAAGACCAAGAACATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATCTCCTTTTTATAACCTGTCTT... | pathogenic | 110,808 |
Benign or pathogenic: chromosome 6, position 80171356, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) variant? Disease(s) if pathogenic? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1B'] | TTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATCTCCTTTTTATAACCTGTCTTTCACAAAAGCTTAGGTCTTTTGATGGTAAAAATATTTTGAGTTTTTT... | TTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATCTCCTTTTTATAACCTGTCTTTCACAAAAGCTTAGGTCTTTTGATGGTAAAAATATTTTGAGTTTTTT... | pathogenic | 110,810 |
Variant in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), chromosome 6, position 80171375—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Maple_syrup_urine_disease'] | TTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATCTCCTTTTTATAACCTGTCTTTCACAAAAGCTTAGGTCTTTTGATGGTAAAAATATTTTGAGTTTTTTATGTCTTAATTTTTTGTAT... | TTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATCTCCTTTTTATAACCTGTCTTTCACAAAAGCTTAGGTCTTTTGATGGTAAAAATATTTTGAGTTTTTTATGTCTTAATTTTTTGTAT... | pathogenic | 110,811 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 80200946, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): what disease(s) if pathogenic? | pathogenic; ['Maple_syrup_urine_disease'] | GAGGCCATATATCTAGAAGCAATACCCCAAATAACTGGTTCTGCAAAGAGGCCCTGGCAACTGTCAGTCTGAATCCTTGATACTACTAAGCCTAGATGCCGGATTTGCCTCCACTGTTAGCAGTATTCCAGAATGAATTCTAGACAGTTACTGCTCTTCTGTGTCATCAGCTTCCAATTCAGAGTCTGCTGTGGGTGCATTGGATTGCCAGAGCCCAAGTTTTGTGCCCTGGCTGCAGAGGAACCTTAGCGGGGAAGAATGTGGAACTCACTTCTGTAGTGGACAAAGGGCCCTGCCTCCTAAGGTAGGGGATTTACCAA... | GAGGCCATATATCTAGAAGCAATACCCCAAATAACTGGTTCTGCAAAGAGGCCCTGGCAACTGTCAGTCTGAATCCTTGATACTACTAAGCCTAGATGCCGGATTTGCCTCCACTGTTAGCAGTATTCCAGAATGAATTCTAGACAGTTACTGCTCTTCTGTGTCATCAGCTTCCAATTCAGAGTCTGCTGTGGGTGCATTGGATTGCCAGAGCCCAAGTTTTGTGCCCTGGCTGCAGAGGAACCTTAGCGGGGAAGAATGTGGAACTCACTTCTGTAGTGGACAAAGGGCCCTGCCTCCTAAGGTAGGGGATTTACCAA... | pathogenic | 110,816 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 80200998, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Maple_syrup_urine_disease'] | CCTGGCAACTGTCAGTCTGAATCCTTGATACTACTAAGCCTAGATGCCGGATTTGCCTCCACTGTTAGCAGTATTCCAGAATGAATTCTAGACAGTTACTGCTCTTCTGTGTCATCAGCTTCCAATTCAGAGTCTGCTGTGGGTGCATTGGATTGCCAGAGCCCAAGTTTTGTGCCCTGGCTGCAGAGGAACCTTAGCGGGGAAGAATGTGGAACTCACTTCTGTAGTGGACAAAGGGCCCTGCCTCCTAAGGTAGGGGATTTACCAAATGTAGGAAGAGGATTCAGAATCTTGGATGCCAGAAAGAGTGAGAGCCGTCC... | CCTGGCAACTGTCAGTCTGAATCCTTGATACTACTAAGCCTAGATGCCGGATTTGCCTCCACTGTTAGCAGTATTCCAGAATGAATTCTAGACAGTTACTGCTCTTCTGTGTCATCAGCTTCCAATTCAGAGTCTGCTGTGGGTGCATTGGATTGCCAGAGCCCAAGTTTTGTGCCCTGGCTGCAGAGGAACCTTAGCGGGGAAGAATGTGGAACTCACTTCTGTAGTGGACAAAGGGCCCTGCCTCCTAAGGTAGGGGATTTACCAAATGTAGGAAGAGGATTCAGAATCTTGGATGCCAGAAAGAGTGAGAGCCGTCC... | pathogenic | 110,819 |
Is the genetic mutation found on chromosome 6 at position 80203102, within the gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | GTTAAAACCTACGTTGTGCTTGGAAGCTCTCATTTTAAATCCTGATACATGAAAAATTGAAAACGATGTTTTCTTTATATCTCAGATTAAGTCTGGTGCTACTGATGCTAATTTCTTTTTTCCCTCAACTTTATTGGTGTGTAATTGACAAATGAAATTATATATCTTCAAGGTATATATGTGATGATTTGATATATGCATACATTGTGAAATGATTGCCATAATCAAATTAATTAATGGATCCATCACCACACATAGTTACTATTTTGTGTGTGGGGGTGGGGGCGAGGACACTTCAGATCTATTATTTTCCCTAGTCA... | GTTAAAACCTACGTTGTGCTTGGAAGCTCTCATTTTAAATCCTGATACATGAAAAATTGAAAACGATGTTTTCTTTATATCTCAGATTAAGTCTGGTGCTACTGATGCTAATTTCTTTTTTCCCTCAACTTTATTGGTGTGTAATTGACAAATGAAATTATATATCTTCAAGGTATATATGTGATGATTTGATATATGCATACATTGTGAAATGATTGCCATAATCAAATTAATTAATGGATCCATCACCACACATAGTTACTATTTTGTGTGTGGGGGTGGGGGCGAGGACACTTCAGATCTATTATTTTCCCTAGTCA... | pathogenic | 110,827 |
Assess the variant on chromosome 6, position 80273188, impacting BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | AAAGATAAGTTGCTTGGTGTGCTCACTGCTGTGGTGGTTGTTTTTTACAAAATATAAGATTATATCGTCCTGCAACTTACTCATTTTACCAGTTAATTTGTCATGGCTGTCTTTACATGTCCTTAGTCTTTTTCATGGCTGCATAATACTCTACTATGTTGATGCATATTGGTCTATTTAGTCATTCCTCTGCTGAGGAGTGCTCAGAAGGGCTCCAAATTTTATCTGCTTACAAATCATGTTGAATCAACCTCAAATGTTGGAAGCTTTTGTCCTTGGTCATCTGTGCTTGATTTCACCATCCACTCTGTGGCCATCTG... | AAAGATAAGTTGCTTGGTGTGCTCACTGCTGTGGTGGTTGTTTTTTACAAAATATAAGATTATATCGTCCTGCAACTTACTCATTTTACCAGTTAATTTGTCATGGCTGTCTTTACATGTCCTTAGTCTTTTTCATGGCTGCATAATACTCTACTATGTTGATGCATATTGGTCTATTTAGTCATTCCTCTGCTGAGGAGTGCTCAGAAGGGCTCCAAATTTTATCTGCTTACAAATCATGTTGAATCAACCTCAAATGTTGGAAGCTTTTGTCCTTGGTCATCTGTGCTTGATTTCACCATCCACTCTGTGGCCATCTG... | pathogenic | 110,838 |
Variant at chromosome 6, position 80273205, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Maple_syrup_urine_disease'] | TGTGCTCACTGCTGTGGTGGTTGTTTTTTACAAAATATAAGATTATATCGTCCTGCAACTTACTCATTTTACCAGTTAATTTGTCATGGCTGTCTTTACATGTCCTTAGTCTTTTTCATGGCTGCATAATACTCTACTATGTTGATGCATATTGGTCTATTTAGTCATTCCTCTGCTGAGGAGTGCTCAGAAGGGCTCCAAATTTTATCTGCTTACAAATCATGTTGAATCAACCTCAAATGTTGGAAGCTTTTGTCCTTGGTCATCTGTGCTTGATTTCACCATCCACTCTGTGGCCATCTGCATAGGCTATAGGATAC... | TGTGCTCACTGCTGTGGTGGTTGTTTTTTACAAAATATAAGATTATATCGTCCTGCAACTTACTCATTTTACCAGTTAATTTGTCATGGCTGTCTTTACATGTCCTTAGTCTTTTTCATGGCTGCATAATACTCTACTATGTTGATGCATATTGGTCTATTTAGTCATTCCTCTGCTGAGGAGTGCTCAGAAGGGCTCCAAATTTTATCTGCTTACAAATCATGTTGAATCAACCTCAAATGTTGGAAGCTTTTGTCCTTGGTCATCTGTGCTTGATTTCACCATCCACTCTGTGGCCATCTGCATAGGCTATAGGATAC... | pathogenic | 110,843 |
Evaluate this variant at chromosome 6, position 80343689, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1B'] | AACAGAACTTCTTGTGGTAGGCCAGCTTTCCAAGTTACTGGTTCAAGAGAACAGTCATTTTATAACAGGTATAAAATCAAAGACGTTTAGTAAAATATTTTGCCCTTAATTCTCCATGGATAGCTTGTTTATGAAGAGTTCAGTATTCAGGGAAGATGGAAAAACAGCCCAGTGTCAGCTAAAGTAATAAAACCGACTTAATCCCAAATTGACAATTTAAAGCCCTTTAAAATTACTTGTTGCAAACAAGAAATAATCCACCCAGTCTGTCATCTCTTTTCAGCTTATTAGTAGTGGAATCTCTTAGGTGGCTCTTTAAA... | AACAGAACTTCTTGTGGTAGGCCAGCTTTCCAAGTTACTGGTTCAAGAGAACAGTCATTTTATAACAGGTATAAAATCAAAGACGTTTAGTAAAATATTTTGCCCTTAATTCTCCATGGATAGCTTGTTTATGAAGAGTTCAGTATTCAGGGAAGATGGAAAAACAGCCCAGTGTCAGCTAAAGTAATAAAACCGACTTAATCCCAAATTGACAATTTAAAGCCCTTTAAAATTACTTGTTGCAAACAAGAAATAATCCACCCAGTCTGTCATCTCTTTTCAGCTTATTAGTAGTGGAATCTCTTAGGTGGCTCTTTAAA... | pathogenic | 110,848 |
Variant in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), located at chromosome 6 position 80343715: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Maple_syrup_urine_disease'] | TTTCCAAGTTACTGGTTCAAGAGAACAGTCATTTTATAACAGGTATAAAATCAAAGACGTTTAGTAAAATATTTTGCCCTTAATTCTCCATGGATAGCTTGTTTATGAAGAGTTCAGTATTCAGGGAAGATGGAAAAACAGCCCAGTGTCAGCTAAAGTAATAAAACCGACTTAATCCCAAATTGACAATTTAAAGCCCTTTAAAATTACTTGTTGCAAACAAGAAATAATCCACCCAGTCTGTCATCTCTTTTCAGCTTATTAGTAGTGGAATCTCTTAGGTGGCTCTTTAAACCGTGTGTATTAAAAGTCCTAAAGTT... | TTTCCAAGTTACTGGTTCAAGAGAACAGTCATTTTATAACAGGTATAAAATCAAAGACGTTTAGTAAAATATTTTGCCCTTAATTCTCCATGGATAGCTTGTTTATGAAGAGTTCAGTATTCAGGGAAGATGGAAAAACAGCCCAGTGTCAGCTAAAGTAATAAAACCGACTTAATCCCAAATTGACAATTTAAAGCCCTTTAAAATTACTTGTTGCAAACAAGAAATAATCCACCCAGTCTGTCATCTCTTTTCAGCTTATTAGTAGTGGAATCTCTTAGGTGGCTCTTTAAACCGTGTGTATTAAAAGTCCTAAAGTT... | pathogenic | 110,851 |
Determine if the mutation at chromosome 6, position 81752010 in gene TENT5A (terminal nucleotidyltransferase 5A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ATACTCATACTTGCGGTCTTCCAATCCCACAAAGTGGTTCTGCAAATAGGACTCCAGTTTTCTCTGCTGCTCTCCAATGTCTGAGAAGTCGATGAAAAACCTGGAACACATATACCTTTGAAGGGTCTTGATTTCATCAGAGGCGGGCCTAAAGCCCCTCACCAAGAGGTTGCAGTACTTAAGCAGGCCTCCCCCTCGGATTTCCTCTGGGTTCCTGGTGGCAATGATCTTGTTACAAAGGTGATCAAAGGCTTCCTGGAAATCGCCATAGACGCTCTCCCCGATTATTGTGGGGTGAAATGTCTCAGTCATTGGGTTCT... | ATACTCATACTTGCGGTCTTCCAATCCCACAAAGTGGTTCTGCAAATAGGACTCCAGTTTTCTCTGCTGCTCTCCAATGTCTGAGAAGTCGATGAAAAACCTGGAACACATATACCTTTGAAGGGTCTTGATTTCATCAGAGGCGGGCCTAAAGCCCCTCACCAAGAGGTTGCAGTACTTAAGCAGGCCTCCCCCTCGGATTTCCTCTGGGTTCCTGGTGGCAATGATCTTGTTACAAAGGTGATCAAAGGCTTCCTGGAAATCGCCATAGACGCTCTCCCCGATTATTGTGGGGTGAAATGTCTCAGTCATTGGGTTCT... | benign | 110,868 |
Variant chromosome 6, position 81752010, gene TENT5A (terminal nucleotidyltransferase 5A): benign or pathogenic? Disease(s)? | benign | ATACTCATACTTGCGGTCTTCCAATCCCACAAAGTGGTTCTGCAAATAGGACTCCAGTTTTCTCTGCTGCTCTCCAATGTCTGAGAAGTCGATGAAAAACCTGGAACACATATACCTTTGAAGGGTCTTGATTTCATCAGAGGCGGGCCTAAAGCCCCTCACCAAGAGGTTGCAGTACTTAAGCAGGCCTCCCCCTCGGATTTCCTCTGGGTTCCTGGTGGCAATGATCTTGTTACAAAGGTGATCAAAGGCTTCCTGGAAATCGCCATAGACGCTCTCCCCGATTATTGTGGGGTGAAATGTCTCAGTCATTGGGTTCT... | ATACTCATACTTGCGGTCTTCCAATCCCACAAAGTGGTTCTGCAAATAGGACTCCAGTTTTCTCTGCTGCTCTCCAATGTCTGAGAAGTCGATGAAAAACCTGGAACACATATACCTTTGAAGGGTCTTGATTTCATCAGAGGCGGGCCTAAAGCCCCTCACCAAGAGGTTGCAGTACTTAAGCAGGCCTCCCCCTCGGATTTCCTCTGGGTTCCTGGTGGCAATGATCTTGTTACAAAGGTGATCAAAGGCTTCCTGGAAATCGCCATAGACGCTCTCCCCGATTATTGTGGGGTGAAATGTCTCAGTCATTGGGTTCT... | benign | 110,869 |
Is the chromosome 6, position 81752010 variant in TENT5A (terminal nucleotidyltransferase 5A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ATACTCATACTTGCGGTCTTCCAATCCCACAAAGTGGTTCTGCAAATAGGACTCCAGTTTTCTCTGCTGCTCTCCAATGTCTGAGAAGTCGATGAAAAACCTGGAACACATATACCTTTGAAGGGTCTTGATTTCATCAGAGGCGGGCCTAAAGCCCCTCACCAAGAGGTTGCAGTACTTAAGCAGGCCTCCCCCTCGGATTTCCTCTGGGTTCCTGGTGGCAATGATCTTGTTACAAAGGTGATCAAAGGCTTCCTGGAAATCGCCATAGACGCTCTCCCCGATTATTGTGGGGTGAAATGTCTCAGTCATTGGGTTCT... | ATACTCATACTTGCGGTCTTCCAATCCCACAAAGTGGTTCTGCAAATAGGACTCCAGTTTTCTCTGCTGCTCTCCAATGTCTGAGAAGTCGATGAAAAACCTGGAACACATATACCTTTGAAGGGTCTTGATTTCATCAGAGGCGGGCCTAAAGCCCCTCACCAAGAGGTTGCAGTACTTAAGCAGGCCTCCCCCTCGGATTTCCTCTGGGTTCCTGGTGGCAATGATCTTGTTACAAAGGTGATCAAAGGCTTCCTGGAAATCGCCATAGACGCTCTCCCCGATTATTGTGGGGTGAAATGTCTCAGTCATTGGGTTCT... | benign | 110,870 |
Gene mutation in PGM3 at chromosome 6, position 83170401—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Immunodeficiency_23'] | TGGCTCATACTGATTATGGTGCCTAAGAGAGCTATATATATACACATGTAAAGTCCATTGTTTTTATTGTCCTGAGTTGTCTTAAACCTGCAAAATATACACTACCCATTTTTTTTTTCCATTGGTTTCAGACTTGGTTCAATTAAGATTGGTTGGGGATTTTTCTCTTTTCCTTATTAACCATGTTCTGGTATCAGAATGGTGTTCCTTCTCCATCAGAGGCTGGGAAACGTATTATAATTAGTTTTTCTCCCACATACCTTCACCAAGAGCAGTGAAGAATAACTGAAGGCTGGACCATGCATCCTTAAAAGTATTGC... | TGGCTCATACTGATTATGGTGCCTAAGAGAGCTATATATATACACATGTAAAGTCCATTGTTTTTATTGTCCTGAGTTGTCTTAAACCTGCAAAATATACACTACCCATTTTTTTTTTCCATTGGTTTCAGACTTGGTTCAATTAAGATTGGTTGGGGATTTTTCTCTTTTCCTTATTAACCATGTTCTGGTATCAGAATGGTGTTCCTTCTCCATCAGAGGCTGGGAAACGTATTATAATTAGTTTTTCTCCCACATACCTTCACCAAGAGCAGTGAAGAATAACTGAAGGCTGGACCATGCATCCTTAAAAGTATTGC... | pathogenic | 110,873 |
A genetic variant at chromosome 6, position 83174414, affecting gene PGM3 (phosphoglucomutase 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Immunodeficiency_23', 'PGM3-related_disorder', 'Severe_combined_immunodeficiency_disease'] | AACAGCCAATGCACTCCAGCCTGGGCAACATAGCAAGACCTTGTCTCTTAATAAAAAACAAATGCACTCCTGACCTCACTGTCAGGAATTTGAAACCAGCCTGGCCAACATGGTAAAACGCCATCTATACTAAAAATACAAAAATTAGCTAGGTGTGGTAGTGGGCGCCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCGTGGGCAACAGAGCGAGACTCCATCTCAAAACAAAACAACAACAACAACAAAAA... | AACAGCCAATGCACTCCAGCCTGGGCAACATAGCAAGACCTTGTCTCTTAATAAAAAACAAATGCACTCCTGACCTCACTGTCAGGAATTTGAAACCAGCCTGGCCAACATGGTAAAACGCCATCTATACTAAAAATACAAAAATTAGCTAGGTGTGGTAGTGGGCGCCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCGTGGGCAACAGAGCGAGACTCCATCTCAAAACAAAACAACAACAACAACAAAAA... | pathogenic | 110,876 |
Located at chromosome 6 position 83174458, the variant affecting gene PGM3 (phosphoglucomutase 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Immunodeficiency_23'] | CTCTTAATAAAAAACAAATGCACTCCTGACCTCACTGTCAGGAATTTGAAACCAGCCTGGCCAACATGGTAAAACGCCATCTATACTAAAAATACAAAAATTAGCTAGGTGTGGTAGTGGGCGCCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCGTGGGCAACAGAGCGAGACTCCATCTCAAAACAAAACAACAACAACAACAAAAAAAACCCACTAAAGGCAGGCCCGCAGTTCATTCAGCATCCCCAAG... | CTCTTAATAAAAAACAAATGCACTCCTGACCTCACTGTCAGGAATTTGAAACCAGCCTGGCCAACATGGTAAAACGCCATCTATACTAAAAATACAAAAATTAGCTAGGTGTGGTAGTGGGCGCCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCGTGGGCAACAGAGCGAGACTCCATCTCAAAACAAAACAACAACAACAACAAAAAAAACCCACTAAAGGCAGGCCCGCAGTTCATTCAGCATCCCCAAG... | pathogenic | 110,878 |
Classify the chromosome 6 variant at position 83187051 affecting gene PGM3 (phosphoglucomutase 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Immunodeficiency_23', 'PGM3-related_disorder'] | AAGGAAAGGTTAAAAAAATTACTCTCAACTTTTTCTAGACTAAAACACTAGAAGAGTGATGGTTCTAGCGACAGAATGAAAATGCTGAAAAAGACAACCATTCTGGGGATGACAGAAAGAATACAGTTTGGGGCAGGGTGAACATGAGACAGAAGCAGGCCACCTAAGGGAAGACACCACTCAGACCAATGCTTTACAAACTGCAGGCCACAGCCTGCCAATGGGCCATGGAATTTACTTAGTGAGACACAACCAGCATTTGTGCATTTTAAACAGATGACTGCATGTCATGTAGGCTGGATGAGCATTGTTTATTGAAA... | AAGGAAAGGTTAAAAAAATTACTCTCAACTTTTTCTAGACTAAAACACTAGAAGAGTGATGGTTCTAGCGACAGAATGAAAATGCTGAAAAAGACAACCATTCTGGGGATGACAGAAAGAATACAGTTTGGGGCAGGGTGAACATGAGACAGAAGCAGGCCACCTAAGGGAAGACACCACTCAGACCAATGCTTTACAAACTGCAGGCCACAGCCTGCCAATGGGCCATGGAATTTACTTAGTGAGACACAACCAGCATTTGTGCATTTTAAACAGATGACTGCATGTCATGTAGGCTGGATGAGCATTGTTTATTGAAA... | pathogenic | 110,880 |
Clinically, how would you classify the variant at chromosome 6, position 83188624, gene PGM3 (phosphoglucomutase 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Immunodeficiency_23'] | AACATAAAGAACTACCTGTCAAAAATATTTCCCATCACTACTTGACAGGTAACAGCTGATTTCACAGGGAACCAGCTATTAGGGAAGACCTAATAATATTGATAAAAGCTCCCCAGAATGATCATCTTCAAGTACTTAAAAAGGTTTTTATTTGAGGAAATTCAGCCTTACCAAAGTAAAGGAAGTTGTATTAGTTCAGAATTTCCCAGCTATAATCTCCTATAGTACTACCATAGGTAAGACAAAACATGCCTGCCCAGAAACGACCTGGAAGATGATTTTTAAAGTTAGTATTTTGTATCTAGGAGTTCATTTTTTAA... | AACATAAAGAACTACCTGTCAAAAATATTTCCCATCACTACTTGACAGGTAACAGCTGATTTCACAGGGAACCAGCTATTAGGGAAGACCTAATAATATTGATAAAAGCTCCCCAGAATGATCATCTTCAAGTACTTAAAAAGGTTTTTATTTGAGGAAATTCAGCCTTACCAAAGTAAAGGAAGTTGTATTAGTTCAGAATTTCCCAGCTATAATCTCCTATAGTACTACCATAGGTAAGACAAAACATGCCTGCCCAGAAACGACCTGGAAGATGATTTTTAAAGTTAGTATTTTGTATCTAGGAGTTCATTTTTTAA... | pathogenic | 110,882 |
Does the variant on chromosome 6 at location 83190850 affecting gene PGM3 (phosphoglucomutase 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Immunodeficiency_23', 'Severe_combined_immunodeficiency_disease'] | AAAAGAAAAACAAACAATAAGCAATCTGTGCATACTCATGAGGCTGAGTTGAGAACAGAACTCAAAAGCTGTTTCCCTTCAACCAAAGACAGTGATGGCTGAGCAGCTTCAACAATAAACACCAAATATTAATACTGGACCCTGGATTAGGTATTTTATGTATATATATTACCTCATTAAATCCTCATGACACACATAATCAATTAAACTAATAATCCTATTTTAATTTCAATCTTCGAGAAAACTGAGCTTCAGAGAGGTTAGGTAATTTGCTTATGATCATACAGCTAACAAATGTCAGTACTGATATTAAAACAGCA... | AAAAGAAAAACAAACAATAAGCAATCTGTGCATACTCATGAGGCTGAGTTGAGAACAGAACTCAAAAGCTGTTTCCCTTCAACCAAAGACAGTGATGGCTGAGCAGCTTCAACAATAAACACCAAATATTAATACTGGACCCTGGATTAGGTATTTTATGTATATATATTACCTCATTAAATCCTCATGACACACATAATCAATTAAACTAATAATCCTATTTTAATTTCAATCTTCGAGAAAACTGAGCTTCAGAGAGGTTAGGTAATTTGCTTATGATCATACAGCTAACAAATGTCAGTACTGATATTAAAACAGCA... | pathogenic | 110,884 |
Mutation at chromosome 6, position 85508042, within SNX14 (sorting nexin 14): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_20'] | TTCCTTTTGTACCTAAAGTAAAAATAAATCCATTTAATAGAAGACAAGACACAGGTTCATTTGTAAATTGCCTAACAGCTCTAGTGTATTAAAATTCTAACCTAAGACATATATATTGTAAACCAAAATAAATTGGCTGGCATATGGAGTGAGAAATATCTATGTTCTAGATATGAGAAAAAAGGCAACGTTTAATGACAGCTCTGTTATGAAGTCTCAAACAGAGCTAAAGGTTTCCTGTTGTTGATTCCCATGAAAATTAAAGATACAAAGTCTGTAACTGCCACTCTGTTTTAATATGCACTTAATATCACAATAAC... | TTCCTTTTGTACCTAAAGTAAAAATAAATCCATTTAATAGAAGACAAGACACAGGTTCATTTGTAAATTGCCTAACAGCTCTAGTGTATTAAAATTCTAACCTAAGACATATATATTGTAAACCAAAATAAATTGGCTGGCATATGGAGTGAGAAATATCTATGTTCTAGATATGAGAAAAAAGGCAACGTTTAATGACAGCTCTGTTATGAAGTCTCAAACAGAGCTAAAGGTTTCCTGTTGTTGATTCCCATGAAAATTAAAGATACAAAGTCTGTAACTGCCACTCTGTTTTAATATGCACTTAATATCACAATAAC... | pathogenic | 110,901 |
The mutation impacting SNX14 (sorting nexin 14) on chromosome 6 at position 85526248: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAGAAAGAAAGAAAGAAAAAGAGAAACATTTATATATAGGTAAAGATTAAAATAATAGGTTCTGTGGAGACTGGCAAGAGGAAAATTGAGGACAGAGCTTAGAAAACACCTATATTTATGTGTATAGAGATAAAGGAGGATTGTGTAGGATGAAAATGTAGTGATAGGACTGAAACAGTTAAGAGAATAATATGCAATAATGAATGCCAAAGGCAAAGAATTTCTAAAGGGAAGAATGCTGCAGAGGAGGTCAAGAAGACTGAGGAGTGAGATGTCTCTGTTAACAATGAGATCACTGGCCAGGCATGGTGCTCACTCAC... | AAGAAAGAAAGAAAGAAAAAGAGAAACATTTATATATAGGTAAAGATTAAAATAATAGGTTCTGTGGAGACTGGCAAGAGGAAAATTGAGGACAGAGCTTAGAAAACACCTATATTTATGTGTATAGAGATAAAGGAGGATTGTGTAGGATGAAAATGTAGTGATAGGACTGAAACAGTTAAGAGAATAATATGCAATAATGAATGCCAAAGGCAAAGAATTTCTAAAGGGAAGAATGCTGCAGAGGAGGTCAAGAAGACTGAGGAGTGAGATGTCTCTGTTAACAATGAGATCACTGGCCAGGCATGGTGCTCACTCAC... | benign | 110,903 |
Considering the variant on chromosome 6, location 85565368, involving gene SNX14 (sorting nexin 14), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neurodevelopmental_disorder'] | TACAGACAATATACTACAAATATATATAGGCAATGATACAAATATGCACAAAATACAGCTCGAGAAAAATATTTGTTTTTTTGCTTTTTGAGATAGAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAATGGCACGATCTCGGCTCATTACAACCTCCACCTCCCAGGTTAAAGCAATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGTATTACAGATGCCCGCCCCCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGAGTGGTCCGCCC... | TACAGACAATATACTACAAATATATATAGGCAATGATACAAATATGCACAAAATACAGCTCGAGAAAAATATTTGTTTTTTTGCTTTTTGAGATAGAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAATGGCACGATCTCGGCTCATTACAACCTCCACCTCCCAGGTTAAAGCAATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGTATTACAGATGCCCGCCCCCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGAGTGGTCCGCCC... | pathogenic | 110,914 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 85574383, gene SNX14 (sorting nexin 14): what disease(s) if pathogenic? | benign | AGCTATGACCTTGAGGAAATAATTCCTGAAGTCCTAACTGCTAAAAAAGGAAAATGAGAGGTGGTGGGGAGATCCATCTTTACATAACATCTTTATTTAAAAGAATCAACTTTTCAGAAGTTTTTAAAATCAATGTATAAATTCAAAGAACATTTTTTGTCTACTTTAACAGTGAAATCTTTCTTTGTAATACATAATACTGGCTAAACTAAACCATCAGAGAAAAAAATACCACATGAAATGCCTTATAATACCTAAGCCAAATTTCCAAGCTTAAAGTTAAAATCAATTGTTATGATCACTTAAAAAAAATTCAGTCT... | AGCTATGACCTTGAGGAAATAATTCCTGAAGTCCTAACTGCTAAAAAAGGAAAATGAGAGGTGGTGGGGAGATCCATCTTTACATAACATCTTTATTTAAAAGAATCAACTTTTCAGAAGTTTTTAAAATCAATGTATAAATTCAAAGAACATTTTTTGTCTACTTTAACAGTGAAATCTTTCTTTGTAATACATAATACTGGCTAAACTAAACCATCAGAGAAAAAAATACCACATGAAATGCCTTATAATACCTAAGCCAAATTTCCAAGCTTAAAGTTAAAATCAATTGTTATGATCACTTAAAAAAAATTCAGTCT... | benign | 110,919 |
Is chromosome 6, position 87256691, gene ZNF292 (zinc finger protein 292) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Intellectual_developmental_disorder,_autosomal_dominant_64', 'Intellectual_disability', 'Neurodevelopmental_disorder'] | TTCACAGACTGAAGGGGCTGGACTTGCTACCTGTATAGAACTGTGTGTAAAGGCTCTTCGCTTGGAGTCTACAGAAAATACTGAAGTGAAAATATCTATTTGCAAGACCATTTCATGTTTGTTGCCTGATGATCTGGAAGTTAAACGTGCTTGTCAACTGAGTGAATTTCTTATTGAGCCTACAGTAGATGCGTATTATGCTGTGGAAATGTTGTATAATCAGCCAGACCAGAAATATGATGAAGAGAATCTTCCAATACCAAATTCTTTACGCTGTGAGCTGTTACTTGTATTGAAAACTCAATGGCCCTTTGATCCAG... | TTCACAGACTGAAGGGGCTGGACTTGCTACCTGTATAGAACTGTGTGTAAAGGCTCTTCGCTTGGAGTCTACAGAAAATACTGAAGTGAAAATATCTATTTGCAAGACCATTTCATGTTTGTTGCCTGATGATCTGGAAGTTAAACGTGCTTGTCAACTGAGTGAATTTCTTATTGAGCCTACAGTAGATGCGTATTATGCTGTGGAAATGTTGTATAATCAGCCAGACCAGAAATATGATGAAGAGAATCTTCCAATACCAAATTCTTTACGCTGTGAGCTGTTACTTGTATTGAAAACTCAATGGCCCTTTGATCCAG... | pathogenic | 110,932 |
Considering the variant on chromosome 6, location 87257058, involving gene ZNF292 (zinc finger protein 292), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Intellectual_developmental_disorder,_autosomal_dominant_64'] | GGAGAAGAAGCATCCATTGTGTCTTCAATAGATGAACTAAATGACAGTGAAGTATATGAAAAAGTGGTAGACTACCAAGAAGAGAGTAAAGAAACTTCTATGAATGGGCTTTCTGGTGGAGTTGGTGCTAATTCTGGCCTTCTTAAAGACATTGGTGATGAAAAGCAGAAGAAGAGAGAGATAAAACAGTTAAGAGAGAGGGGATTTATATCTGCTCGGTTTAGGAATTGGCAAGCCTACATGCAGTATTGTGTGTTGTGTGACAAAGAATTCCTTGGTCACAGAATAGTACGACATGCTCAGAAACATTACAAAGATGG... | GGAGAAGAAGCATCCATTGTGTCTTCAATAGATGAACTAAATGACAGTGAAGTATATGAAAAAGTGGTAGACTACCAAGAAGAGAGTAAAGAAACTTCTATGAATGGGCTTTCTGGTGGAGTTGGTGCTAATTCTGGCCTTCTTAAAGACATTGGTGATGAAAAGCAGAAGAAGAGAGAGATAAAACAGTTAAGAGAGAGGGGATTTATATCTGCTCGGTTTAGGAATTGGCAAGCCTACATGCAGTATTGTGTGTTGTGTGACAAAGAATTCCTTGGTCACAGAATAGTACGACATGCTCAGAAACATTACAAAGATGG... | pathogenic | 110,933 |
Is the genetic mutation found on chromosome 6 at position 87257084, within the gene ZNF292 (zinc finger protein 292), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Intellectual_developmental_disorder,_autosomal_dominant_64', 'Intellectual_disability,_mild', 'Microcephaly', 'Neurodevelopmental_disorder', 'Short_stature'] | AATAGATGAACTAAATGACAGTGAAGTATATGAAAAAGTGGTAGACTACCAAGAAGAGAGTAAAGAAACTTCTATGAATGGGCTTTCTGGTGGAGTTGGTGCTAATTCTGGCCTTCTTAAAGACATTGGTGATGAAAAGCAGAAGAAGAGAGAGATAAAACAGTTAAGAGAGAGGGGATTTATATCTGCTCGGTTTAGGAATTGGCAAGCCTACATGCAGTATTGTGTGTTGTGTGACAAAGAATTCCTTGGTCACAGAATAGTACGACATGCTCAGAAACATTACAAAGATGGAATTTATAGTTGCCCCATATGTGCAA... | AATAGATGAACTAAATGACAGTGAAGTATATGAAAAAGTGGTAGACTACCAAGAAGAGAGTAAAGAAACTTCTATGAATGGGCTTTCTGGTGGAGTTGGTGCTAATTCTGGCCTTCTTAAAGACATTGGTGATGAAAAGCAGAAGAAGAGAGAGATAAAACAGTTAAGAGAGAGGGGATTTATATCTGCTCGGTTTAGGAATTGGCAAGCCTACATGCAGTATTGTGTGTTGTGTGACAAAGAATTCCTTGGTCACAGAATAGTACGACATGCTCAGAAACATTACAAAGATGGAATTTATAGTTGCCCCATATGTGCAA... | pathogenic | 110,934 |
For chromosome 6, position 87258991, gene ZNF292 (zinc finger protein 292): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Intellectual_developmental_disorder,_autosomal_dominant_64'] | GTACTCGAACCTATAATTCTTCACAGAGTATTGGGAAACACATGAAGACAGCACACCCTGACCAATATGCTGCATTTAAAATGCAGCGCAAAAGTAAAAAAGGTCAGAAAGCTAACAACTTAAATACACCAAATAATGGAAAGTTTGTTTATTTTTTGCCATCACCGGTGAACAGCTCAAATCCATTTTTTACATCACAGACCAAAGCCAATGGGAATCCTGCTTGTTCGGCCCAGTTGCAGCATGTCTCGCCACCCATTTTTCCAGCTCATTTAGCAAGTGTGTCAACTCCATTGTTGTCCTCAATGGAAAGTGTCATA... | GTACTCGAACCTATAATTCTTCACAGAGTATTGGGAAACACATGAAGACAGCACACCCTGACCAATATGCTGCATTTAAAATGCAGCGCAAAAGTAAAAAAGGTCAGAAAGCTAACAACTTAAATACACCAAATAATGGAAAGTTTGTTTATTTTTTGCCATCACCGGTGAACAGCTCAAATCCATTTTTTACATCACAGACCAAAGCCAATGGGAATCCTGCTTGTTCGGCCCAGTTGCAGCATGTCTCGCCACCCATTTTTCCAGCTCATTTAGCAAGTGTGTCAACTCCATTGTTGTCCTCAATGGAAAGTGTCATA... | pathogenic | 110,946 |
Mutation found at chromosome 6 position 87259765, gene ZNF292 (zinc finger protein 292): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_developmental_disorder,_autosomal_dominant_64', 'Intellectual_disability', 'ZNF292-related_disorder'] | GGGCTAAATGGCCTGCAATTATCAGAGATGGGAAATTTATCTGTAGCAGGTGTTACAGGGCTTTTACTAATCCCAGATCACTGGGTGGGCACTTATCCAAGCGATCTTACTGTAAACCACTGGATGGAGCCGAAATTGCTCAAGAACTTCTACAGAGTAATGGACAGCCTTCTCTTCTTGCCAGCATGATTCTCTCCACAAATGCAGTAAATTTGCAGCAGCCACAACAATCTACCTTCAATCCAGAAGCATGTTTTAAAGATCCATCATTTCTACAGCTTCTTGCTGAAAATCGCTCGCCAGCATTTTTACCAAATACA... | GGGCTAAATGGCCTGCAATTATCAGAGATGGGAAATTTATCTGTAGCAGGTGTTACAGGGCTTTTACTAATCCCAGATCACTGGGTGGGCACTTATCCAAGCGATCTTACTGTAAACCACTGGATGGAGCCGAAATTGCTCAAGAACTTCTACAGAGTAATGGACAGCCTTCTCTTCTTGCCAGCATGATTCTCTCCACAAATGCAGTAAATTTGCAGCAGCCACAACAATCTACCTTCAATCCAGAAGCATGTTTTAAAGATCCATCATTTCTACAGCTTCTTGCTGAAAATCGCTCGCCAGCATTTTTACCAAATACA... | pathogenic | 110,952 |
Does the genetic variant at chromosome 6, position 87259787, impacting gene ZNF292 (zinc finger protein 292), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder,_autosomal_dominant_64', 'Intellectual_disability', 'Neurodevelopmental_disorder'] | CAGAGATGGGAAATTTATCTGTAGCAGGTGTTACAGGGCTTTTACTAATCCCAGATCACTGGGTGGGCACTTATCCAAGCGATCTTACTGTAAACCACTGGATGGAGCCGAAATTGCTCAAGAACTTCTACAGAGTAATGGACAGCCTTCTCTTCTTGCCAGCATGATTCTCTCCACAAATGCAGTAAATTTGCAGCAGCCACAACAATCTACCTTCAATCCAGAAGCATGTTTTAAAGATCCATCATTTCTACAGCTTCTTGCTGAAAATCGCTCGCCAGCATTTTTACCAAATACATTTCCTCGATCTGGTGTGACTA... | CAGAGATGGGAAATTTATCTGTAGCAGGTGTTACAGGGCTTTTACTAATCCCAGATCACTGGGTGGGCACTTATCCAAGCGATCTTACTGTAAACCACTGGATGGAGCCGAAATTGCTCAAGAACTTCTACAGAGTAATGGACAGCCTTCTCTTCTTGCCAGCATGATTCTCTCCACAAATGCAGTAAATTTGCAGCAGCCACAACAATCTACCTTCAATCCAGAAGCATGTTTTAAAGATCCATCATTTCTACAGCTTCTTGCTGAAAATCGCTCGCCAGCATTTTTACCAAATACATTTCCTCGATCTGGTGTGACTA... | pathogenic | 110,953 |
Variant in ZNF292 (zinc finger protein 292), chromosome 6, position 87259902—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Intellectual_developmental_disorder,_autosomal_dominant_64', 'Neurodevelopmental_disorder'] | GCTCAAGAACTTCTACAGAGTAATGGACAGCCTTCTCTTCTTGCCAGCATGATTCTCTCCACAAATGCAGTAAATTTGCAGCAGCCACAACAATCTACCTTCAATCCAGAAGCATGTTTTAAAGATCCATCATTTCTACAGCTTCTTGCTGAAAATCGCTCGCCAGCATTTTTACCAAATACATTTCCTCGATCTGGTGTGACTAACTTTAATACCAGTGTCAGTCAAGAAGGTAGTGAAATTATTAAACAGGCTTTGGAAACTGCTGGCATTCCCAGTACATTTGAGGGTGCCGAAATGCTTTCTCATGTTTCAACAGG... | GCTCAAGAACTTCTACAGAGTAATGGACAGCCTTCTCTTCTTGCCAGCATGATTCTCTCCACAAATGCAGTAAATTTGCAGCAGCCACAACAATCTACCTTCAATCCAGAAGCATGTTTTAAAGATCCATCATTTCTACAGCTTCTTGCTGAAAATCGCTCGCCAGCATTTTTACCAAATACATTTCCTCGATCTGGTGTGACTAACTTTAATACCAGTGTCAGTCAAGAAGGTAGTGAAATTATTAAACAGGCTTTGGAAACTGCTGGCATTCCCAGTACATTTGAGGGTGCCGAAATGCTTTCTCATGTTTCAACAGG... | pathogenic | 110,955 |
Mutation found at chromosome 6 position 87261163, gene ZNF292 (zinc finger protein 292): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAGTATCACATAAGGAGGATCAAATACAGGAAATTTTAGAAGGCTTACAGAAATTAAAATTAGAAAATGACCTATCCACTCCAGCATCCCAATGTGTACTGATAAATACATCAGTGACACTGACTCCCACGCCTGTTAAATCAACTGCAGATATCACAGTTATTCAGCCAGTTTCTGAAATGATAAACATTCAATTTAATGACAAAGTTAATAAACCCTTTGTGTGTCAAAACCAAGGCTGTAACTACAGTGCTATGACAAAGGATGCACTATTTAAGCACTATGGTAAAATTCATCAATACACTCCAGAAATGATTCTT... | AAGTATCACATAAGGAGGATCAAATACAGGAAATTTTAGAAGGCTTACAGAAATTAAAATTAGAAAATGACCTATCCACTCCAGCATCCCAATGTGTACTGATAAATACATCAGTGACACTGACTCCCACGCCTGTTAAATCAACTGCAGATATCACAGTTATTCAGCCAGTTTCTGAAATGATAAACATTCAATTTAATGACAAAGTTAATAAACCCTTTGTGTGTCAAAACCAAGGCTGTAACTACAGTGCTATGACAAAGGATGCACTATTTAAGCACTATGGTAAAATTCATCAATACACTCCAGAAATGATTCTT... | benign | 110,960 |
Considering the variant on chromosome 6, location 87514508, involving gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCAAATCAACTCAACTCTGGCAAGCCTTAAGCAAAAAAGAAAGAATTTTTAAGAAGGTCCACAATCAGGGCTACAGGCGTCTAGGTTCTAAGAATTAATGGACAGTTGTCTTTTCAGCTTTTGTAAAGATCTGGCTTTACCTATTACTGTTCCTGTATGGTTTCACTCACGATTCAAATACTCGGGAAGACACTACTGATCTTGGAAGGGGAAAGTTTCTTCAAACAAGTAGAGAGGGATATTGGATGTGTAAAACATGTCCCTACTTTATATTTTTATCCCATGGCTGGTTTATGCTAAGAAAAATGTGACACTACTTT... | GCAAATCAACTCAACTCTGGCAAGCCTTAAGCAAAAAAGAAAGAATTTTTAAGAAGGTCCACAATCAGGGCTACAGGCGTCTAGGTTCTAAGAATTAATGGACAGTTGTCTTTTCAGCTTTTGTAAAGATCTGGCTTTACCTATTACTGTTCCTGTATGGTTTCACTCACGATTCAAATACTCGGGAAGACACTACTGATCTTGGAAGGGGAAAGTTTCTTCAAACAAGTAGAGAGGGATATTGGATGTGTAAAACATGTCCCTACTTTATATTTTTATCCCATGGCTGGTTTATGCTAAGAAAAATGTGACACTACTTT... | benign | 110,978 |
Gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial) variant at chromosome 6, position 87514975—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Pontocerebellar_hypoplasia_type_6', 'Pontoneocerebellar_hypoplasia'] | TAAATAGACCGTCACTGGTATTCAAAAGCCTACTATTAGCAACATTTAGAATAAATTATAGCAGACCTGAATGGAAATGCTGGCTGATGGGAATGGCCGTACTGATCAAACACATCACATCCTACTCTTGTTTCCTAAGCCATGCTCATGTTATCTAATGAAGCCACACAAAAATATGAAGATAGATACATGAAGGAAACCATAAGAAACTCCATTTCAAATTATGGTTGAATTAATGGACTACATTTTACAAAAAGATCCTAATTCAACGTCTTTACAAGTAATTCCTTCCTATTAAAATGTATTTAGTTCCTGAATTC... | TAAATAGACCGTCACTGGTATTCAAAAGCCTACTATTAGCAACATTTAGAATAAATTATAGCAGACCTGAATGGAAATGCTGGCTGATGGGAATGGCCGTACTGATCAAACACATCACATCCTACTCTTGTTTCCTAAGCCATGCTCATGTTATCTAATGAAGCCACACAAAAATATGAAGATAGATACATGAAGGAAACCATAAGAAACTCCATTTCAAATTATGGTTGAATTAATGGACTACATTTTACAAAAAGATCCTAATTCAACGTCTTTACAAGTAATTCCTTCCTATTAAAATGTATTTAGTTCCTGAATTC... | pathogenic | 110,981 |
Variant at chromosome 6, position 87514976, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | AAATAGACCGTCACTGGTATTCAAAAGCCTACTATTAGCAACATTTAGAATAAATTATAGCAGACCTGAATGGAAATGCTGGCTGATGGGAATGGCCGTACTGATCAAACACATCACATCCTACTCTTGTTTCCTAAGCCATGCTCATGTTATCTAATGAAGCCACACAAAAATATGAAGATAGATACATGAAGGAAACCATAAGAAACTCCATTTCAAATTATGGTTGAATTAATGGACTACATTTTACAAAAAGATCCTAATTCAACGTCTTTACAAGTAATTCCTTCCTATTAAAATGTATTTAGTTCCTGAATTCA... | AAATAGACCGTCACTGGTATTCAAAAGCCTACTATTAGCAACATTTAGAATAAATTATAGCAGACCTGAATGGAAATGCTGGCTGATGGGAATGGCCGTACTGATCAAACACATCACATCCTACTCTTGTTTCCTAAGCCATGCTCATGTTATCTAATGAAGCCACACAAAAATATGAAGATAGATACATGAAGGAAACCATAAGAAACTCCATTTCAAATTATGGTTGAATTAATGGACTACATTTTACAAAAAGATCCTAATTCAACGTCTTTACAAGTAATTCCTTCCTATTAAAATGTATTTAGTTCCTGAATTCA... | pathogenic | 110,982 |
Does the variant impacting RARS2 (arginyl-tRNA synthetase 2, mitochondrial) on chromosome 6, position 87514994, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | ATTCAAAAGCCTACTATTAGCAACATTTAGAATAAATTATAGCAGACCTGAATGGAAATGCTGGCTGATGGGAATGGCCGTACTGATCAAACACATCACATCCTACTCTTGTTTCCTAAGCCATGCTCATGTTATCTAATGAAGCCACACAAAAATATGAAGATAGATACATGAAGGAAACCATAAGAAACTCCATTTCAAATTATGGTTGAATTAATGGACTACATTTTACAAAAAGATCCTAATTCAACGTCTTTACAAGTAATTCCTTCCTATTAAAATGTATTTAGTTCCTGAATTCACACAATAAGAGTTACCTG... | ATTCAAAAGCCTACTATTAGCAACATTTAGAATAAATTATAGCAGACCTGAATGGAAATGCTGGCTGATGGGAATGGCCGTACTGATCAAACACATCACATCCTACTCTTGTTTCCTAAGCCATGCTCATGTTATCTAATGAAGCCACACAAAAATATGAAGATAGATACATGAAGGAAACCATAAGAAACTCCATTTCAAATTATGGTTGAATTAATGGACTACATTTTACAAAAAGATCCTAATTCAACGTCTTTACAAGTAATTCCTTCCTATTAAAATGTATTTAGTTCCTGAATTCACACAATAAGAGTTACCTG... | pathogenic | 110,983 |
The chromosome 6, position 87516808 genetic variant in gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_6', 'RARS2-related_disorder'] | TGTAGGAAAATGTGCTTTATAGTCTAGTATGTTGGGAAGTATATACACATTGATTGTTACAGCCTAATTATTAGCTAAGGAAGTATACTGCTACAGTTGAACAACAGAATGCTATTTTAGAAAAATTTACAAGACTGACTTAGTAATATTAGTCTCAGGAGCTAGGGATTATACAGAAAACATTCAACATAACGTACCCCAGCCACTTCAGGAGGACTATCTTTTATTTGTAGTGTTTTGTGTGCCACAGCTGCAAGATGACTGAAACAGGAAGAGAGAAATCACGATAGTACCAGCAGTAATTTCCTGTTGTAAGATAT... | TGTAGGAAAATGTGCTTTATAGTCTAGTATGTTGGGAAGTATATACACATTGATTGTTACAGCCTAATTATTAGCTAAGGAAGTATACTGCTACAGTTGAACAACAGAATGCTATTTTAGAAAAATTTACAAGACTGACTTAGTAATATTAGTCTCAGGAGCTAGGGATTATACAGAAAACATTCAACATAACGTACCCCAGCCACTTCAGGAGGACTATCTTTTATTTGTAGTGTTTTGTGTGCCACAGCTGCAAGATGACTGAAACAGGAAGAGAGAAATCACGATAGTACCAGCAGTAATTTCCTGTTGTAAGATAT... | pathogenic | 110,987 |
A genetic variant on chromosome 6, position 87516837, affects the gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TGTTGGGAAGTATATACACATTGATTGTTACAGCCTAATTATTAGCTAAGGAAGTATACTGCTACAGTTGAACAACAGAATGCTATTTTAGAAAAATTTACAAGACTGACTTAGTAATATTAGTCTCAGGAGCTAGGGATTATACAGAAAACATTCAACATAACGTACCCCAGCCACTTCAGGAGGACTATCTTTTATTTGTAGTGTTTTGTGTGCCACAGCTGCAAGATGACTGAAACAGGAAGAGAGAAATCACGATAGTACCAGCAGTAATTTCCTGTTGTAAGATATGAGCTTGATATCTAATCTTACTCCTTCAA... | TGTTGGGAAGTATATACACATTGATTGTTACAGCCTAATTATTAGCTAAGGAAGTATACTGCTACAGTTGAACAACAGAATGCTATTTTAGAAAAATTTACAAGACTGACTTAGTAATATTAGTCTCAGGAGCTAGGGATTATACAGAAAACATTCAACATAACGTACCCCAGCCACTTCAGGAGGACTATCTTTTATTTGTAGTGTTTTGTGTGCCACAGCTGCAAGATGACTGAAACAGGAAGAGAGAAATCACGATAGTACCAGCAGTAATTTCCTGTTGTAAGATATGAGCTTGATATCTAATCTTACTCCTTCAA... | pathogenic | 110,989 |
Variant in RARS2 (arginyl-tRNA synthetase 2, mitochondrial), chromosome 6, position 87518198—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TACAGAAGATACAGCTGCTGCTGCTATACAAGGGTGGACTCAATTTTGATTTCAATTTGCTAAAATAGACACCATGAAATTGTCATTAAAGATTAGAAAAATTAAGTTTTCTAGCTTATTTTTCTGTGCCTCTGCTTAAAATCCCTGTATGGACCCCACCACCCCGAAAATAAGTTTAAATGCCTCAGTACATGGCAAACAGGTTTATACACGCTTCATTCATCAGCCCTCCCAGGACAATGCTTATGGATCCTTTAAAATGTATTATTACGTTCTTGCTCAACTCTGGGCTTTCTTCTTCTTCCCAGCCACATTCCTTC... | TACAGAAGATACAGCTGCTGCTGCTATACAAGGGTGGACTCAATTTTGATTTCAATTTGCTAAAATAGACACCATGAAATTGTCATTAAAGATTAGAAAAATTAAGTTTTCTAGCTTATTTTTCTGTGCCTCTGCTTAAAATCCCTGTATGGACCCCACCACCCCGAAAATAAGTTTAAATGCCTCAGTACATGGCAAACAGGTTTATACACGCTTCATTCATCAGCCCTCCCAGGACAATGCTTATGGATCCTTTAAAATGTATTATTACGTTCTTGCTCAACTCTGGGCTTTCTTCTTCTTCCCAGCCACATTCCTTC... | pathogenic | 110,996 |
Is the chromosome 6, position 87518248 variant in RARS2 (arginyl-tRNA synthetase 2, mitochondrial) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TTCAATTTGCTAAAATAGACACCATGAAATTGTCATTAAAGATTAGAAAAATTAAGTTTTCTAGCTTATTTTTCTGTGCCTCTGCTTAAAATCCCTGTATGGACCCCACCACCCCGAAAATAAGTTTAAATGCCTCAGTACATGGCAAACAGGTTTATACACGCTTCATTCATCAGCCCTCCCAGGACAATGCTTATGGATCCTTTAAAATGTATTATTACGTTCTTGCTCAACTCTGGGCTTTCTTCTTCTTCCCAGCCACATTCCTTCTGATTAATATCTCCTTTCCTCTGAGAAGCCCTCTCTGATCGCTCAAGGCT... | TTCAATTTGCTAAAATAGACACCATGAAATTGTCATTAAAGATTAGAAAAATTAAGTTTTCTAGCTTATTTTTCTGTGCCTCTGCTTAAAATCCCTGTATGGACCCCACCACCCCGAAAATAAGTTTAAATGCCTCAGTACATGGCAAACAGGTTTATACACGCTTCATTCATCAGCCCTCCCAGGACAATGCTTATGGATCCTTTAAAATGTATTATTACGTTCTTGCTCAACTCTGGGCTTTCTTCTTCTTCCCAGCCACATTCCTTCTGATTAATATCTCCTTTCCTCTGAGAAGCCCTCTCTGATCGCTCAAGGCT... | pathogenic | 110,998 |
Variant at chromosome position 87518659, chromosome 6, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TCTACAGTGACAGTACCTTGTATCACTGAATGAATGAAGGAACATTAACTGCTAATTTGTATAGATGAAGCAATAATTCCTGTAACTAAAAGCACATCAAATTTTAGGCCAAGGAATTTGTTTACAGGAAACCTTTAGATGAAAGAAAGGTCTCAAATGCCATTAACACCTGAAAACAGGAAGATTATAAAGTACCTTAAAGTTAGAAGGTAACTGACGATATGCCTGGGTTGAAAGTCCTGAGATGATTTATAAAGCACCTCGTCGAACCTAAAAGATGACAGGAACAGTGAACAGGAAAAGACTGTACACATTACACT... | TCTACAGTGACAGTACCTTGTATCACTGAATGAATGAAGGAACATTAACTGCTAATTTGTATAGATGAAGCAATAATTCCTGTAACTAAAAGCACATCAAATTTTAGGCCAAGGAATTTGTTTACAGGAAACCTTTAGATGAAAGAAAGGTCTCAAATGCCATTAACACCTGAAAACAGGAAGATTATAAAGTACCTTAAAGTTAGAAGGTAACTGACGATATGCCTGGGTTGAAAGTCCTGAGATGATTTATAAAGCACCTCGTCGAACCTAAAAGATGACAGGAACAGTGAACAGGAAAAGACTGTACACATTACACT... | pathogenic | 111,005 |
Considering the variant on chromosome 6, location 87518679, involving gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TATCACTGAATGAATGAAGGAACATTAACTGCTAATTTGTATAGATGAAGCAATAATTCCTGTAACTAAAAGCACATCAAATTTTAGGCCAAGGAATTTGTTTACAGGAAACCTTTAGATGAAAGAAAGGTCTCAAATGCCATTAACACCTGAAAACAGGAAGATTATAAAGTACCTTAAAGTTAGAAGGTAACTGACGATATGCCTGGGTTGAAAGTCCTGAGATGATTTATAAAGCACCTCGTCGAACCTAAAAGATGACAGGAACAGTGAACAGGAAAAGACTGTACACATTACACTAAGACATTAGACATTAAAAG... | TATCACTGAATGAATGAAGGAACATTAACTGCTAATTTGTATAGATGAAGCAATAATTCCTGTAACTAAAAGCACATCAAATTTTAGGCCAAGGAATTTGTTTACAGGAAACCTTTAGATGAAAGAAAGGTCTCAAATGCCATTAACACCTGAAAACAGGAAGATTATAAAGTACCTTAAAGTTAGAAGGTAACTGACGATATGCCTGGGTTGAAAGTCCTGAGATGATTTATAAAGCACCTCGTCGAACCTAAAAGATGACAGGAACAGTGAACAGGAAAAGACTGTACACATTACACTAAGACATTAGACATTAAAAG... | pathogenic | 111,006 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 87520193, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial). What disease(s) is it linked to if pathogenic? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GATGATCCCTGGAAAACATCATACCTGAGAAGATGCTGAAGAATTGAAACAGACTGTGGCTCTTGTAAACAAGCAGTGTTGAAGTCATTCAGGTACCCACATCCAAAAGTCTCTTCCAAACTTATCAAAAGTTTAAAGTTAAAAACATCAAAAGATTAAAAAGTCATACAAGGGCACAGAGCTGCAAGTGATGAACATGACCTTATAATACACAATTTTGGTCTCCTTAATATCCATACACAGTGGAGGTAACAGTATATTTTTCGACAGGGTTATTCTGAGGACTAAGATAATACACATAAATGTATTTCTAACATAGG... | GATGATCCCTGGAAAACATCATACCTGAGAAGATGCTGAAGAATTGAAACAGACTGTGGCTCTTGTAAACAAGCAGTGTTGAAGTCATTCAGGTACCCACATCCAAAAGTCTCTTCCAAACTTATCAAAAGTTTAAAGTTAAAAACATCAAAAGATTAAAAAGTCATACAAGGGCACAGAGCTGCAAGTGATGAACATGACCTTATAATACACAATTTTGGTCTCCTTAATATCCATACACAGTGGAGGTAACAGTATATTTTTCGACAGGGTTATTCTGAGGACTAAGATAATACACATAAATGTATTTCTAACATAGG... | pathogenic | 111,021 |
The chromosome 6, position 87520236 genetic variant in gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TTGAAACAGACTGTGGCTCTTGTAAACAAGCAGTGTTGAAGTCATTCAGGTACCCACATCCAAAAGTCTCTTCCAAACTTATCAAAAGTTTAAAGTTAAAAACATCAAAAGATTAAAAAGTCATACAAGGGCACAGAGCTGCAAGTGATGAACATGACCTTATAATACACAATTTTGGTCTCCTTAATATCCATACACAGTGGAGGTAACAGTATATTTTTCGACAGGGTTATTCTGAGGACTAAGATAATACACATAAATGTATTTCTAACATAGGTGCTCAATAAATTTTTTTTTTTTCCTAAAAGAAGGTCTACTCT... | TTGAAACAGACTGTGGCTCTTGTAAACAAGCAGTGTTGAAGTCATTCAGGTACCCACATCCAAAAGTCTCTTCCAAACTTATCAAAAGTTTAAAGTTAAAAACATCAAAAGATTAAAAAGTCATACAAGGGCACAGAGCTGCAAGTGATGAACATGACCTTATAATACACAATTTTGGTCTCCTTAATATCCATACACAGTGGAGGTAACAGTATATTTTTCGACAGGGTTATTCTGAGGACTAAGATAATACACATAAATGTATTTCTAACATAGGTGCTCAATAAATTTTTTTTTTTTCCTAAAAGAAGGTCTACTCT... | pathogenic | 111,023 |
Variant in gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial), located at chromosome 6 position 87520236: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TTGAAACAGACTGTGGCTCTTGTAAACAAGCAGTGTTGAAGTCATTCAGGTACCCACATCCAAAAGTCTCTTCCAAACTTATCAAAAGTTTAAAGTTAAAAACATCAAAAGATTAAAAAGTCATACAAGGGCACAGAGCTGCAAGTGATGAACATGACCTTATAATACACAATTTTGGTCTCCTTAATATCCATACACAGTGGAGGTAACAGTATATTTTTCGACAGGGTTATTCTGAGGACTAAGATAATACACATAAATGTATTTCTAACATAGGTGCTCAATAAATTTTTTTTTTTTCCTAAAAGAAGGTCTACTCT... | TTGAAACAGACTGTGGCTCTTGTAAACAAGCAGTGTTGAAGTCATTCAGGTACCCACATCCAAAAGTCTCTTCCAAACTTATCAAAAGTTTAAAGTTAAAAACATCAAAAGATTAAAAAGTCATACAAGGGCACAGAGCTGCAAGTGATGAACATGACCTTATAATACACAATTTTGGTCTCCTTAATATCCATACACAGTGGAGGTAACAGTATATTTTTCGACAGGGTTATTCTGAGGACTAAGATAATACACATAAATGTATTTCTAACATAGGTGCTCAATAAATTTTTTTTTTTTCCTAAAAGAAGGTCTACTCT... | pathogenic | 111,024 |
Variant at chromosome 6, position 87524564, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GATTATATATGATACTGGAAAGACTGAAAAAATTTCTCGATCTTTCAAAATGTTAGGGATCATCAAAATGTCATTAGTACCTATCTCATGATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTT... | GATTATATATGATACTGGAAAGACTGAAAAAATTTCTCGATCTTTCAAAATGTTAGGGATCATCAAAATGTCATTAGTACCTATCTCATGATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTT... | pathogenic | 111,030 |
Regarding the variant at chromosome 6 and position 87524566, affecting gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TTATATATGATACTGGAAAGACTGAAAAAATTTCTCGATCTTTCAAAATGTTAGGGATCATCAAAATGTCATTAGTACCTATCTCATGATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTTCT... | TTATATATGATACTGGAAAGACTGAAAAAATTTCTCGATCTTTCAAAATGTTAGGGATCATCAAAATGTCATTAGTACCTATCTCATGATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTTCT... | pathogenic | 111,031 |
Does the variant impacting RARS2 (arginyl-tRNA synthetase 2, mitochondrial) on chromosome 6, position 87524602, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GATCTTTCAAAATGTTAGGGATCATCAAAATGTCATTAGTACCTATCTCATGATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTTCTGGCCTCAAGTGATCCTCCTGCTTTGGCTTCCCAAAG... | GATCTTTCAAAATGTTAGGGATCATCAAAATGTCATTAGTACCTATCTCATGATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTTCTGGCCTCAAGTGATCCTCCTGCTTTGGCTTCCCAAAG... | pathogenic | 111,034 |
Located at chromosome 6 position 87524632, the variant affecting gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TGTCATTAGTACCTATCTCATGATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTTCTGGCCTCAAGTGATCCTCCTGCTTTGGCTTCCCAAAGTTCTAAGATTACAGGCGTGAGCCACTACAG... | TGTCATTAGTACCTATCTCATGATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTTCTGGCCTCAAGTGATCCTCCTGCTTTGGCTTCCCAAAGTTCTAAGATTACAGGCGTGAGCCACTACAG... | pathogenic | 111,035 |
Chromosome 6, position 87524653, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTTCTGGCCTCAAGTGATCCTCCTGCTTTGGCTTCCCAAAGTTCTAAGATTACAGGCGTGAGCCACTACAGCTGGCCAACAAAAAATCTTAT... | GATCCTGACATTGCACAGAGCATGCATTCTCAATGAAGGCAAAAACTGGCTAATTTTTGTGTTTTTAGTAGAAATGGGGTATCATCATGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAGGTGATCTACCCTCCTCGTCCTCCCAAAGTCCTGAGAATACAGGCAAGAGCCACTGCATATTTTTTGTAGAGATGGGTCTCATTATATTGTCCCGGCTGCTTTCAAACTTCTGGCCTCAAGTGATCCTCCTGCTTTGGCTTCCCAAAGTTCTAAGATTACAGGCGTGAGCCACTACAGCTGGCCAACAAAAAATCTTAT... | pathogenic | 111,037 |
Variant chromosome 6, position 87529577, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? Disease(s)? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | AACAAAAGCAAAAAATACACAGATGGGATTGCATAAAACTAAAAAAGCTTCTGCACAGCAAAGAAAACAATCAACAAAATGAAGAGACAACCTAGAGGATTAAAGAAAATACGTGGAAAACATGTATCTGGTAAGGGGTTAATGTGAAAATATATAAGGAACTCAACTCAATGGAAAAACAACAACAAAAAAACTAAACCAAACCAACACCACCACTACCAAAAAAAAACCCAACTAAAAAGTGGGCCAAAGAAGCCATTATTCTCAGTAAACTAATGCAGGAACAGAAAACCAAATACCACATATTCTCACTTATAAGT... | AACAAAAGCAAAAAATACACAGATGGGATTGCATAAAACTAAAAAAGCTTCTGCACAGCAAAGAAAACAATCAACAAAATGAAGAGACAACCTAGAGGATTAAAGAAAATACGTGGAAAACATGTATCTGGTAAGGGGTTAATGTGAAAATATATAAGGAACTCAACTCAATGGAAAAACAACAACAAAAAAACTAAACCAAACCAACACCACCACTACCAAAAAAAAACCCAACTAAAAAGTGGGCCAAAGAAGCCATTATTCTCAGTAAACTAATGCAGGAACAGAAAACCAAATACCACATATTCTCACTTATAAGT... | pathogenic | 111,046 |
Variant in RARS2 (arginyl-tRNA synthetase 2, mitochondrial), chromosome 6, position 87529580—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | AAAAGCAAAAAATACACAGATGGGATTGCATAAAACTAAAAAAGCTTCTGCACAGCAAAGAAAACAATCAACAAAATGAAGAGACAACCTAGAGGATTAAAGAAAATACGTGGAAAACATGTATCTGGTAAGGGGTTAATGTGAAAATATATAAGGAACTCAACTCAATGGAAAAACAACAACAAAAAAACTAAACCAAACCAACACCACCACTACCAAAAAAAAACCCAACTAAAAAGTGGGCCAAAGAAGCCATTATTCTCAGTAAACTAATGCAGGAACAGAAAACCAAATACCACATATTCTCACTTATAAGTGGG... | AAAAGCAAAAAATACACAGATGGGATTGCATAAAACTAAAAAAGCTTCTGCACAGCAAAGAAAACAATCAACAAAATGAAGAGACAACCTAGAGGATTAAAGAAAATACGTGGAAAACATGTATCTGGTAAGGGGTTAATGTGAAAATATATAAGGAACTCAACTCAATGGAAAAACAACAACAAAAAAACTAAACCAAACCAACACCACCACTACCAAAAAAAAACCCAACTAAAAAGTGGGCCAAAGAAGCCATTATTCTCAGTAAACTAATGCAGGAACAGAAAACCAAATACCACATATTCTCACTTATAAGTGGG... | pathogenic | 111,047 |
Determine whether the variant at chromosome 6, position 87529588, in gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | AAAATACACAGATGGGATTGCATAAAACTAAAAAAGCTTCTGCACAGCAAAGAAAACAATCAACAAAATGAAGAGACAACCTAGAGGATTAAAGAAAATACGTGGAAAACATGTATCTGGTAAGGGGTTAATGTGAAAATATATAAGGAACTCAACTCAATGGAAAAACAACAACAAAAAAACTAAACCAAACCAACACCACCACTACCAAAAAAAAACCCAACTAAAAAGTGGGCCAAAGAAGCCATTATTCTCAGTAAACTAATGCAGGAACAGAAAACCAAATACCACATATTCTCACTTATAAGTGGGAGTTGAAC... | AAAATACACAGATGGGATTGCATAAAACTAAAAAAGCTTCTGCACAGCAAAGAAAACAATCAACAAAATGAAGAGACAACCTAGAGGATTAAAGAAAATACGTGGAAAACATGTATCTGGTAAGGGGTTAATGTGAAAATATATAAGGAACTCAACTCAATGGAAAAACAACAACAAAAAAACTAAACCAAACCAACACCACCACTACCAAAAAAAAACCCAACTAAAAAGTGGGCCAAAGAAGCCATTATTCTCAGTAAACTAATGCAGGAACAGAAAACCAAATACCACATATTCTCACTTATAAGTGGGAGTTGAAC... | pathogenic | 111,049 |
A genetic variant at chromosome 6, position 87529650, affecting gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ACAAAATGAAGAGACAACCTAGAGGATTAAAGAAAATACGTGGAAAACATGTATCTGGTAAGGGGTTAATGTGAAAATATATAAGGAACTCAACTCAATGGAAAAACAACAACAAAAAAACTAAACCAAACCAACACCACCACTACCAAAAAAAAACCCAACTAAAAAGTGGGCCAAAGAAGCCATTATTCTCAGTAAACTAATGCAGGAACAGAAAACCAAATACCACATATTCTCACTTATAAGTGGGAGTTGAACAATGTGAACACAGAGACACAAGGAAGGAAAGAACACAGACTGGGGCCTGTCGGGGGATGGGG... | ACAAAATGAAGAGACAACCTAGAGGATTAAAGAAAATACGTGGAAAACATGTATCTGGTAAGGGGTTAATGTGAAAATATATAAGGAACTCAACTCAATGGAAAAACAACAACAAAAAAACTAAACCAAACCAACACCACCACTACCAAAAAAAAACCCAACTAAAAAGTGGGCCAAAGAAGCCATTATTCTCAGTAAACTAATGCAGGAACAGAAAACCAAATACCACATATTCTCACTTATAAGTGGGAGTTGAACAATGTGAACACAGAGACACAAGGAAGGAAAGAACACAGACTGGGGCCTGTCGGGGGATGGGG... | benign | 111,053 |
A genetic variant on chromosome 6, position 87530794, affects the gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GGTTAAAGGCTACAAAGTTTTAGGTAAACAGGAGGAGTAAGTTCTGGAGATCTATTGTACAGCATTGTGAGTATAATTAACAATAATGCATAGTACACTTGAAAACTGCTAACAGGGTAGATTTTAAATGTTCTCATCATAGGTAAGTACGTAAGGTGATGGGTATGTTAATTAACTTGATTTCAACATTTCACAGTGTGCATATATCAAATCATGTTGTACACCATAAATATATACAATATGTCATTCATCAATTACAACTTTTTTTTTAAAGAAAAAACTCTGACATAAGCAAGAAAACAGAATTCTAGGAGGGATAT... | GGTTAAAGGCTACAAAGTTTTAGGTAAACAGGAGGAGTAAGTTCTGGAGATCTATTGTACAGCATTGTGAGTATAATTAACAATAATGCATAGTACACTTGAAAACTGCTAACAGGGTAGATTTTAAATGTTCTCATCATAGGTAAGTACGTAAGGTGATGGGTATGTTAATTAACTTGATTTCAACATTTCACAGTGTGCATATATCAAATCATGTTGTACACCATAAATATATACAATATGTCATTCATCAATTACAACTTTTTTTTTAAAGAAAAAACTCTGACATAAGCAAGAAAACAGAATTCTAGGAGGGATAT... | pathogenic | 111,055 |
Does the variant on chromosome 6 at location 87530855 affecting gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GCATTGTGAGTATAATTAACAATAATGCATAGTACACTTGAAAACTGCTAACAGGGTAGATTTTAAATGTTCTCATCATAGGTAAGTACGTAAGGTGATGGGTATGTTAATTAACTTGATTTCAACATTTCACAGTGTGCATATATCAAATCATGTTGTACACCATAAATATATACAATATGTCATTCATCAATTACAACTTTTTTTTTAAAGAAAAAACTCTGACATAAGCAAGAAAACAGAATTCTAGGAGGGATATGCTAACACCATCTCTGACTTCATATTACTTTTCCTGCCCCTACTTCCTGTTTTCATCATTT... | GCATTGTGAGTATAATTAACAATAATGCATAGTACACTTGAAAACTGCTAACAGGGTAGATTTTAAATGTTCTCATCATAGGTAAGTACGTAAGGTGATGGGTATGTTAATTAACTTGATTTCAACATTTCACAGTGTGCATATATCAAATCATGTTGTACACCATAAATATATACAATATGTCATTCATCAATTACAACTTTTTTTTTAAAGAAAAAACTCTGACATAAGCAAGAAAACAGAATTCTAGGAGGGATATGCTAACACCATCTCTGACTTCATATTACTTTTCCTGCCCCTACTTCCTGTTTTCATCATTT... | pathogenic | 111,059 |
Does the chromosome 6 mutation at position 87530918 within gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Pontocerebellar_hypoplasia_type_6', 'Pontoneocerebellar_hypoplasia'] | TAAATGTTCTCATCATAGGTAAGTACGTAAGGTGATGGGTATGTTAATTAACTTGATTTCAACATTTCACAGTGTGCATATATCAAATCATGTTGTACACCATAAATATATACAATATGTCATTCATCAATTACAACTTTTTTTTTAAAGAAAAAACTCTGACATAAGCAAGAAAACAGAATTCTAGGAGGGATATGCTAACACCATCTCTGACTTCATATTACTTTTCCTGCCCCTACTTCCTGTTTTCATCATTTTCCTCATTTATAAGCCTGTTATAGTATACTTATCTTCACACACTGCCTTAAATATTTTTTGAA... | TAAATGTTCTCATCATAGGTAAGTACGTAAGGTGATGGGTATGTTAATTAACTTGATTTCAACATTTCACAGTGTGCATATATCAAATCATGTTGTACACCATAAATATATACAATATGTCATTCATCAATTACAACTTTTTTTTTAAAGAAAAAACTCTGACATAAGCAAGAAAACAGAATTCTAGGAGGGATATGCTAACACCATCTCTGACTTCATATTACTTTTCCTGCCCCTACTTCCTGTTTTCATCATTTTCCTCATTTATAAGCCTGTTATAGTATACTTATCTTCACACACTGCCTTAAATATTTTTTGAA... | pathogenic | 111,063 |
Classify the chromosome 6 variant at position 87545673 affecting gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | AGCGAGACTCCATCTCAGAAAGAAAAAAAAAAAACAATTTATTTCTATATCAATTACCAAGCTTCAGATCTAAAGGGCTTTACTGATACACATTTTTCTATTCAAGGTTCAGTAGAAAGTGGGACGTGACTGAACACAGGACACAGGAATATACAATACTTTGGAACTTAGGAACAAGAAGGATGACTGAAGCTCTATTAACTTTCAAGCAAGAGCAAATGTGATTATAATTCAGGGTGGTTGGAGCAGTGTGTGGAAAGATGCTCAGTGTTCCAAAACACAAAAATGGGAAAAGTAAGGGCCAATTCCATTTAACATTC... | AGCGAGACTCCATCTCAGAAAGAAAAAAAAAAAACAATTTATTTCTATATCAATTACCAAGCTTCAGATCTAAAGGGCTTTACTGATACACATTTTTCTATTCAAGGTTCAGTAGAAAGTGGGACGTGACTGAACACAGGACACAGGAATATACAATACTTTGGAACTTAGGAACAAGAAGGATGACTGAAGCTCTATTAACTTTCAAGCAAGAGCAAATGTGATTATAATTCAGGGTGGTTGGAGCAGTGTGTGGAAAGATGCTCAGTGTTCCAAAACACAAAAATGGGAAAAGTAAGGGCCAATTCCATTTAACATTC... | pathogenic | 111,072 |
Does the genetic variant at chromosome 6, position 87545676, impacting gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_6', 'Pontoneocerebellar_hypoplasia'] | GAGACTCCATCTCAGAAAGAAAAAAAAAAAACAATTTATTTCTATATCAATTACCAAGCTTCAGATCTAAAGGGCTTTACTGATACACATTTTTCTATTCAAGGTTCAGTAGAAAGTGGGACGTGACTGAACACAGGACACAGGAATATACAATACTTTGGAACTTAGGAACAAGAAGGATGACTGAAGCTCTATTAACTTTCAAGCAAGAGCAAATGTGATTATAATTCAGGGTGGTTGGAGCAGTGTGTGGAAAGATGCTCAGTGTTCCAAAACACAAAAATGGGAAAAGTAAGGGCCAATTCCATTTAACATTCAGC... | GAGACTCCATCTCAGAAAGAAAAAAAAAAAACAATTTATTTCTATATCAATTACCAAGCTTCAGATCTAAAGGGCTTTACTGATACACATTTTTCTATTCAAGGTTCAGTAGAAAGTGGGACGTGACTGAACACAGGACACAGGAATATACAATACTTTGGAACTTAGGAACAAGAAGGATGACTGAAGCTCTATTAACTTTCAAGCAAGAGCAAATGTGATTATAATTCAGGGTGGTTGGAGCAGTGTGTGGAAAGATGCTCAGTGTTCCAAAACACAAAAATGGGAAAAGTAAGGGCCAATTCCATTTAACATTCAGC... | pathogenic | 111,073 |
Considering the variant on chromosome 6, location 87545715, involving gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TTCTATATCAATTACCAAGCTTCAGATCTAAAGGGCTTTACTGATACACATTTTTCTATTCAAGGTTCAGTAGAAAGTGGGACGTGACTGAACACAGGACACAGGAATATACAATACTTTGGAACTTAGGAACAAGAAGGATGACTGAAGCTCTATTAACTTTCAAGCAAGAGCAAATGTGATTATAATTCAGGGTGGTTGGAGCAGTGTGTGGAAAGATGCTCAGTGTTCCAAAACACAAAAATGGGAAAAGTAAGGGCCAATTCCATTTAACATTCAGCCTAATACATTTTCAAAAACTAATTCTGTGCTTAGAAACT... | TTCTATATCAATTACCAAGCTTCAGATCTAAAGGGCTTTACTGATACACATTTTTCTATTCAAGGTTCAGTAGAAAGTGGGACGTGACTGAACACAGGACACAGGAATATACAATACTTTGGAACTTAGGAACAAGAAGGATGACTGAAGCTCTATTAACTTTCAAGCAAGAGCAAATGTGATTATAATTCAGGGTGGTTGGAGCAGTGTGTGGAAAGATGCTCAGTGTTCCAAAACACAAAAATGGGAAAAGTAAGGGCCAATTCCATTTAACATTCAGCCTAATACATTTTCAAAAACTAATTCTGTGCTTAGAAACT... | benign | 111,074 |
Is the chromosome 6, position 87548605 variant in RARS2 (arginyl-tRNA synthetase 2, mitochondrial) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Pontocerebellar_hypoplasia_type_6', 'Pontoneocerebellar_hypoplasia'] | TGGCAGTGGCAGCATGGTTCTAGAGCAGTGCAAGGGATTGCAGAAGAGGCAGGAGCTCCCTTGATGACAAGGTTCCATAGTGCAGTTTTGGGAGTTATTTATGTCAGCTTAATCCAAAGCTTCTGCAGCCCTCCAACAACTTTGTAAACCATTCAATATTCTACAATAAATCCTCTTCTGCCTTTACTAAGAATGGATTTAGTTTTTTGCAAATAAACCCTCACCAATATCCATACCTGACTTAAACTACTGCAGCTATCTTCTTTTCCAGCTTCCCTAGTTGTAGACTTTCCCAATCTATAAAGTCCCTGCAACTGGAA... | TGGCAGTGGCAGCATGGTTCTAGAGCAGTGCAAGGGATTGCAGAAGAGGCAGGAGCTCCCTTGATGACAAGGTTCCATAGTGCAGTTTTGGGAGTTATTTATGTCAGCTTAATCCAAAGCTTCTGCAGCCCTCCAACAACTTTGTAAACCATTCAATATTCTACAATAAATCCTCTTCTGCCTTTACTAAGAATGGATTTAGTTTTTTGCAAATAAACCCTCACCAATATCCATACCTGACTTAAACTACTGCAGCTATCTTCTTTTCCAGCTTCCCTAGTTGTAGACTTTCCCAATCTATAAAGTCCCTGCAACTGGAA... | pathogenic | 111,077 |
Does the chromosome 6 mutation at position 87562713 within gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GAGGTGGGTGGATTACCCGAGGCTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACTAAAAATACAAAATTAGCTGGGCGCGGTGGTGCATGCCTGTAATCCCAGCTACCTGGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACGGTAAGCAAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAACCATGCAAATGACCATCATCTGAGACCTAAAACTTATGGTGTAAACCAACTTACTGCACTGCCAGTTGTATAAAAGTATAGCACATAC... | GAGGTGGGTGGATTACCCGAGGCTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACTAAAAATACAAAATTAGCTGGGCGCGGTGGTGCATGCCTGTAATCCCAGCTACCTGGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACGGTAAGCAAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAACCATGCAAATGACCATCATCTGAGACCTAAAACTTATGGTGTAAACCAACTTACTGCACTGCCAGTTGTATAAAAGTATAGCACATAC... | pathogenic | 111,086 |
For chromosome 6, position 87562713, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GAGGTGGGTGGATTACCCGAGGCTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACTAAAAATACAAAATTAGCTGGGCGCGGTGGTGCATGCCTGTAATCCCAGCTACCTGGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACGGTAAGCAAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAACCATGCAAATGACCATCATCTGAGACCTAAAACTTATGGTGTAAACCAACTTACTGCACTGCCAGTTGTATAAAAGTATAGCACATAC... | GAGGTGGGTGGATTACCCGAGGCTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACTAAAAATACAAAATTAGCTGGGCGCGGTGGTGCATGCCTGTAATCCCAGCTACCTGGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACGGTAAGCAAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAACCATGCAAATGACCATCATCTGAGACCTAAAACTTATGGTGTAAACCAACTTACTGCACTGCCAGTTGTATAAAAGTATAGCACATAC... | pathogenic | 111,087 |
Located at chromosome 6 position 87562718, the variant affecting gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | GGGTGGATTACCCGAGGCTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACTAAAAATACAAAATTAGCTGGGCGCGGTGGTGCATGCCTGTAATCCCAGCTACCTGGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACGGTAAGCAAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAACCATGCAAATGACCATCATCTGAGACCTAAAACTTATGGTGTAAACCAACTTACTGCACTGCCAGTTGTATAAAAGTATAGCACATACAATTA... | GGGTGGATTACCCGAGGCTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACTAAAAATACAAAATTAGCTGGGCGCGGTGGTGCATGCCTGTAATCCCAGCTACCTGGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACGGTAAGCAAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAACCATGCAAATGACCATCATCTGAGACCTAAAACTTATGGTGTAAACCAACTTACTGCACTGCCAGTTGTATAAAAGTATAGCACATACAATTA... | pathogenic | 111,088 |
Clinical significance of chromosome 6, position 87562764, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | TGGAGAAACTAAAAATACAAAATTAGCTGGGCGCGGTGGTGCATGCCTGTAATCCCAGCTACCTGGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACGGTAAGCAAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAACCATGCAAATGACCATCATCTGAGACCTAAAACTTATGGTGTAAACCAACTTACTGCACTGCCAGTTGTATAAAAGTATAGCACATACAATTATGTACAGTACATAATACTTCATTATAAATGACTATGTTAGTGATTT... | TGGAGAAACTAAAAATACAAAATTAGCTGGGCGCGGTGGTGCATGCCTGTAATCCCAGCTACCTGGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACGGTAAGCAAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAACCATGCAAATGACCATCATCTGAGACCTAAAACTTATGGTGTAAACCAACTTACTGCACTGCCAGTTGTATAAAAGTATAGCACATACAATTATGTACAGTACATAATACTTCATTATAAATGACTATGTTAGTGATTT... | pathogenic | 111,090 |
Variant at chromosome position 87564181, chromosome 6, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Pontocerebellar_hypoplasia_type_6', 'Pontoneocerebellar_hypoplasia'] | TTTTAAATTTTTTTGTAGAGATATGCTGCCAGGGCTGGTCTTGAACTTCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTTATACAAACCTAGATGATACAGTCTACTATACGCCTAGGCTGTATGCTACAGCCTATTGCTCCTAGGCTACAAACCTGTACAGCATGTCACTGTACTGAATATTGTATGCAACTGTATCATAATAGTGTCTGTATACTTAAATATATCTAAACACAGAAAGGTACAGTAAAAATATGGTATTGTCTTATGGGACCATCATCTATACACGTTGTGTATGAAATGTCATTATG... | TTTTAAATTTTTTTGTAGAGATATGCTGCCAGGGCTGGTCTTGAACTTCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTTATACAAACCTAGATGATACAGTCTACTATACGCCTAGGCTGTATGCTACAGCCTATTGCTCCTAGGCTACAAACCTGTACAGCATGTCACTGTACTGAATATTGTATGCAACTGTATCATAATAGTGTCTGTATACTTAAATATATCTAAACACAGAAAGGTACAGTAAAAATATGGTATTGTCTTATGGGACCATCATCTATACACGTTGTGTATGAAATGTCATTATG... | pathogenic | 111,093 |
Is the genetic variant on chromosome 6, position 87569549, gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Pontocerebellar_hypoplasia_type_6'] | AATCGAGAGAATTAGATCAGAGTAAATTAATTCATTATATTAATTAAACCATGTTAACAAAAATACTATTTCTTAATTCTCCTGGCACTTGTAAGCACTCTGGAATAAAGTTAGAAATATAGAACGGTTAGGCTTAGTTACATACTGTAAAGGAAACCTGAATTTATTATGGCAAAGCACTAGAGGTTCCCTTTGTTTTAAGTAAACTTAATATGAAGAATTTCAGATTTGTAGGCCAGAAAAATCTTGAGGCCCTCCCCAATATTTAATTTATTTATTTACTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTG... | AATCGAGAGAATTAGATCAGAGTAAATTAATTCATTATATTAATTAAACCATGTTAACAAAAATACTATTTCTTAATTCTCCTGGCACTTGTAAGCACTCTGGAATAAAGTTAGAAATATAGAACGGTTAGGCTTAGTTACATACTGTAAAGGAAACCTGAATTTATTATGGCAAAGCACTAGAGGTTCCCTTTGTTTTAAGTAAACTTAATATGAAGAATTTCAGATTTGTAGGCCAGAAAAATCTTGAGGCCCTCCCCAATATTTAATTTATTTATTTACTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTG... | pathogenic | 111,101 |
Gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial) variant at chromosome position 87569584 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mitochondrial_disease', 'Pontocerebellar_hypoplasia_type_6'] | TATATTAATTAAACCATGTTAACAAAAATACTATTTCTTAATTCTCCTGGCACTTGTAAGCACTCTGGAATAAAGTTAGAAATATAGAACGGTTAGGCTTAGTTACATACTGTAAAGGAAACCTGAATTTATTATGGCAAAGCACTAGAGGTTCCCTTTGTTTTAAGTAAACTTAATATGAAGAATTTCAGATTTGTAGGCCAGAAAAATCTTGAGGCCCTCCCCAATATTTAATTTATTTATTTACTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTCTAACCT... | TATATTAATTAAACCATGTTAACAAAAATACTATTTCTTAATTCTCCTGGCACTTGTAAGCACTCTGGAATAAAGTTAGAAATATAGAACGGTTAGGCTTAGTTACATACTGTAAAGGAAACCTGAATTTATTATGGCAAAGCACTAGAGGTTCCCTTTGTTTTAAGTAAACTTAATATGAAGAATTTCAGATTTGTAGGCCAGAAAAATCTTGAGGCCCTCCCCAATATTTAATTTATTTATTTACTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTCTAACCT... | pathogenic | 111,103 |
Does the variant on chromosome 6 at location 90556630 affecting gene MAP3K7 (mitogen-activated protein kinase kinase kinase 7) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGGCTACAGGTTGACTGACATCTTTCAGAAATGAAGAAACTTACACAGCCTAACAGTCTGCATTTTGTTGCTCTAGACAATTAAGGGTTGTCTAGAGCAATAAAATTAATCTTTTGTATAAACAAATCTTTTTGCTCTCCACATACAGTAACATTGGGTCATTTTAACTCACATAAAGGTATATTAAATAAGTAAATAATTTTAAAACAATGTCAAATGTATACATTCTGTATATGAAACAGGAGGCATTATTTAATCTTGTGTAATATAACACCTGATTATTCATTTATTACTAAATTGAATTTTAGGGCAAAAGAGCT... | GGGCTACAGGTTGACTGACATCTTTCAGAAATGAAGAAACTTACACAGCCTAACAGTCTGCATTTTGTTGCTCTAGACAATTAAGGGTTGTCTAGAGCAATAAAATTAATCTTTTGTATAAACAAATCTTTTTGCTCTCCACATACAGTAACATTGGGTCATTTTAACTCACATAAAGGTATATTAAATAAGTAAATAATTTTAAAACAATGTCAAATGTATACATTCTGTATATGAAACAGGAGGCATTATTTAATCTTGTGTAATATAACACCTGATTATTCATTTATTACTAAATTGAATTTTAGGGCAAAAGAGCT... | benign | 111,146 |
Determine if the mutation at chromosome 6, position 96891399 in gene NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ACCACATAACAGATGCCTAACCACACAATGTAGATATGAATAAAGAAGATGGCTCAGAAGAGTGTACTAGTATTTGTGACTCAGCTAGTGACCATTATGATAAAAAGAATAAAGTTTTGACTTATTTACAGTTTTAAAATGCATTTTATATTGAGTAGTTATTTCATGTTTTCTTAAAACAATTATTGTATTGAACTAAAAATAAACTAGGTAGTTTGTTCACATAACAAATCTACATTCAAAGTCATGCTTACAAATTTTCCACTTAGTCCATTTTTCTGTTCTCAGCATTACTACAAATGCCTCATTCCGTCATCACA... | ACCACATAACAGATGCCTAACCACACAATGTAGATATGAATAAAGAAGATGGCTCAGAAGAGTGTACTAGTATTTGTGACTCAGCTAGTGACCATTATGATAAAAAGAATAAAGTTTTGACTTATTTACAGTTTTAAAATGCATTTTATATTGAGTAGTTATTTCATGTTTTCTTAAAACAATTATTGTATTGAACTAAAAATAAACTAGGTAGTTTGTTCACATAACAAATCTACATTCAAAGTCATGCTTACAAATTTTCCACTTAGTCCATTTTTCTGTTCTCAGCATTACTACAAATGCCTCATTCCGTCATCACA... | benign | 111,157 |
Mutation found at chromosome 6 position 96891399, gene NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACCACATAACAGATGCCTAACCACACAATGTAGATATGAATAAAGAAGATGGCTCAGAAGAGTGTACTAGTATTTGTGACTCAGCTAGTGACCATTATGATAAAAAGAATAAAGTTTTGACTTATTTACAGTTTTAAAATGCATTTTATATTGAGTAGTTATTTCATGTTTTCTTAAAACAATTATTGTATTGAACTAAAAATAAACTAGGTAGTTTGTTCACATAACAAATCTACATTCAAAGTCATGCTTACAAATTTTCCACTTAGTCCATTTTTCTGTTCTCAGCATTACTACAAATGCCTCATTCCGTCATCACA... | ACCACATAACAGATGCCTAACCACACAATGTAGATATGAATAAAGAAGATGGCTCAGAAGAGTGTACTAGTATTTGTGACTCAGCTAGTGACCATTATGATAAAAAGAATAAAGTTTTGACTTATTTACAGTTTTAAAATGCATTTTATATTGAGTAGTTATTTCATGTTTTCTTAAAACAATTATTGTATTGAACTAAAAATAAACTAGGTAGTTTGTTCACATAACAAATCTACATTCAAAGTCATGCTTACAAATTTTCCACTTAGTCCATTTTTCTGTTCTCAGCATTACTACAAATGCCTCATTCCGTCATCACA... | benign | 111,158 |
Regarding the variant at chromosome 6 and position 96897859, affecting gene NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATATTAATAATTCTATCTGTGCAAATATCCAGAGAGAGAGGGACAGTACCAGAATATTTTAGAATGAAAAAAAAAATCTGGAAGTTGTTGGCACTTCCTTGGCCTTTAATCAAACTTTACCCCTAACTAGAATCTTCCTGCCCCCAAAAACTCATCTGGTTAACTCCAACTGATCCCTCCTCAGGCCTGAACATAACTATCACTTCCTCAGAAACCATCCTTGATCCTCCCATTTCAAAGAGGTCCCTCCAATATACTCAGCAGTGCACGTACTTTTCCCATAATTATGGTCACATTGTTGCTCATTTGTTTAATGGCTG... | ATATTAATAATTCTATCTGTGCAAATATCCAGAGAGAGAGGGACAGTACCAGAATATTTTAGAATGAAAAAAAAAATCTGGAAGTTGTTGGCACTTCCTTGGCCTTTAATCAAACTTTACCCCTAACTAGAATCTTCCTGCCCCCAAAAACTCATCTGGTTAACTCCAACTGATCCCTCCTCAGGCCTGAACATAACTATCACTTCCTCAGAAACCATCCTTGATCCTCCCATTTCAAAGAGGTCCCTCCAATATACTCAGCAGTGCACGTACTTTTCCCATAATTATGGTCACATTGTTGCTCATTTGTTTAATGGCTG... | benign | 111,162 |
Is the genetic mutation found on chromosome 6 at position 98874452, within the gene FBXL4 (F-box and leucine rich repeat protein 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAAGTAAAATACATAAAATCTTATTACAGATCAGCATTAACAAATGAGTACTTACAATCAACTTTAATGACACGAAACATTAACTTTGATCCTCCCTGTAAATATTTAATTCTTTTCATTAGTAAACCCGTATTACAAAAAAAATTGTTCTAAATTATTGTTTTGAATTTTGTCAATAAAATTTTCGTGCAAATTTTATTTCTCTCTAGTTATTTAAGTATCTACATAACAATCTCAGTTTTACCTCTTAGCCCACAAAGCCTAAAATATTTACTATCTGGCCCTTTATAGAAAAAGTTTCCTGACCTCTGCCCTAGAGC... | GAAGTAAAATACATAAAATCTTATTACAGATCAGCATTAACAAATGAGTACTTACAATCAACTTTAATGACACGAAACATTAACTTTGATCCTCCCTGTAAATATTTAATTCTTTTCATTAGTAAACCCGTATTACAAAAAAAATTGTTCTAAATTATTGTTTTGAATTTTGTCAATAAAATTTTCGTGCAAATTTTATTTCTCTCTAGTTATTTAAGTATCTACATAACAATCTCAGTTTTACCTCTTAGCCCACAAAGCCTAAAATATTTACTATCTGGCCCTTTATAGAAAAAGTTTCCTGACCTCTGCCCTAGAGC... | benign | 111,167 |
Mutation at chromosome 6, position 98875467, within FBXL4 (F-box and leucine rich repeat protein 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_13'] | ACTTTACCTTTCACAAAATGTTAAGGCATCTGCTTCTAACAGTTGGAAAGCTTTTTTTATTTAGTAGTTTACCTCTTATTCTTGATTATACCCAAATTTTTATATTGGCATTATCCAGTAGTGAAATAGACAAAAATATCAGAAGAAAAGTGGAAACACTACAATTTTTTTTAAGAGAAAGGGACTTGCTATATTGCCCAGGTTGGAGTGCAGTGGCTGCTCACAGGTGCAATCATAAGTACACTAGAGTCTCAAAATCCCATCTCAAGTAATCCTCCTGCCTCCACCTCCTGTGTCGCTAGGACTACAAGTGTGTGCCA... | ACTTTACCTTTCACAAAATGTTAAGGCATCTGCTTCTAACAGTTGGAAAGCTTTTTTTATTTAGTAGTTTACCTCTTATTCTTGATTATACCCAAATTTTTATATTGGCATTATCCAGTAGTGAAATAGACAAAAATATCAGAAGAAAAGTGGAAACACTACAATTTTTTTTAAGAGAAAGGGACTTGCTATATTGCCCAGGTTGGAGTGCAGTGGCTGCTCACAGGTGCAATCATAAGTACACTAGAGTCTCAAAATCCCATCTCAAGTAATCCTCCTGCCTCCACCTCCTGTGTCGCTAGGACTACAAGTGTGTGCCA... | pathogenic | 111,170 |
Is the variant located on chromosome 6 at position 98875474, gene FBXL4 (F-box and leucine rich repeat protein 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_13'] | CTTTCACAAAATGTTAAGGCATCTGCTTCTAACAGTTGGAAAGCTTTTTTTATTTAGTAGTTTACCTCTTATTCTTGATTATACCCAAATTTTTATATTGGCATTATCCAGTAGTGAAATAGACAAAAATATCAGAAGAAAAGTGGAAACACTACAATTTTTTTTAAGAGAAAGGGACTTGCTATATTGCCCAGGTTGGAGTGCAGTGGCTGCTCACAGGTGCAATCATAAGTACACTAGAGTCTCAAAATCCCATCTCAAGTAATCCTCCTGCCTCCACCTCCTGTGTCGCTAGGACTACAAGTGTGTGCCACCACACC... | CTTTCACAAAATGTTAAGGCATCTGCTTCTAACAGTTGGAAAGCTTTTTTTATTTAGTAGTTTACCTCTTATTCTTGATTATACCCAAATTTTTATATTGGCATTATCCAGTAGTGAAATAGACAAAAATATCAGAAGAAAAGTGGAAACACTACAATTTTTTTTAAGAGAAAGGGACTTGCTATATTGCCCAGGTTGGAGTGCAGTGGCTGCTCACAGGTGCAATCATAAGTACACTAGAGTCTCAAAATCCCATCTCAAGTAATCCTCCTGCCTCCACCTCCTGTGTCGCTAGGACTACAAGTGTGTGCCACCACACC... | pathogenic | 111,171 |
Is the variant located on chromosome 6 at position 98875553, gene FBXL4 (F-box and leucine rich repeat protein 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_13'] | TATACCCAAATTTTTATATTGGCATTATCCAGTAGTGAAATAGACAAAAATATCAGAAGAAAAGTGGAAACACTACAATTTTTTTTAAGAGAAAGGGACTTGCTATATTGCCCAGGTTGGAGTGCAGTGGCTGCTCACAGGTGCAATCATAAGTACACTAGAGTCTCAAAATCCCATCTCAAGTAATCCTCCTGCCTCCACCTCCTGTGTCGCTAGGACTACAAGTGTGTGCCACCACACCTGGCTAGAAAAACTAAAAATTTTCCAGTTGAACAGTTAATCCAGAGAAATAACCAAACAGCTGGAAAAGCATGTCTCAT... | TATACCCAAATTTTTATATTGGCATTATCCAGTAGTGAAATAGACAAAAATATCAGAAGAAAAGTGGAAACACTACAATTTTTTTTAAGAGAAAGGGACTTGCTATATTGCCCAGGTTGGAGTGCAGTGGCTGCTCACAGGTGCAATCATAAGTACACTAGAGTCTCAAAATCCCATCTCAAGTAATCCTCCTGCCTCCACCTCCTGTGTCGCTAGGACTACAAGTGTGTGCCACCACACCTGGCTAGAAAAACTAAAAATTTTCCAGTTGAACAGTTAATCCAGAGAAATAACCAAACAGCTGGAAAAGCATGTCTCAT... | pathogenic | 111,173 |
Variant at chromosome position 98875676, chromosome 6, gene FBXL4 (F-box and leucine rich repeat protein 4): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_13'] | GCAGTGGCTGCTCACAGGTGCAATCATAAGTACACTAGAGTCTCAAAATCCCATCTCAAGTAATCCTCCTGCCTCCACCTCCTGTGTCGCTAGGACTACAAGTGTGTGCCACCACACCTGGCTAGAAAAACTAAAAATTTTCCAGTTGAACAGTTAATCCAGAGAAATAACCAAACAGCTGGAAAAGCATGTCTCATTCTCCAACTAGCTCTGACCATTTTGTACATACCAAACAAAACACTTGCCAGGTCACAGGCTTAATAAGACATCCTTACATGAAGGTGTAAAAAATTAACTTTTTTTTTTGCATAAATGCCACG... | GCAGTGGCTGCTCACAGGTGCAATCATAAGTACACTAGAGTCTCAAAATCCCATCTCAAGTAATCCTCCTGCCTCCACCTCCTGTGTCGCTAGGACTACAAGTGTGTGCCACCACACCTGGCTAGAAAAACTAAAAATTTTCCAGTTGAACAGTTAATCCAGAGAAATAACCAAACAGCTGGAAAAGCATGTCTCATTCTCCAACTAGCTCTGACCATTTTGTACATACCAAACAAAACACTTGCCAGGTCACAGGCTTAATAAGACATCCTTACATGAAGGTGTAAAAAATTAACTTTTTTTTTTGCATAAATGCCACG... | pathogenic | 111,177 |
For chromosome 6, position 98905461, gene FBXL4 (F-box and leucine rich repeat protein 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_13'] | GGAATGCCATCAAGATTTATGATTTTACTGGCTGAAATACTACAGTAAAATATGAGAACTTAAATTTATATATGGCTTTTTCTGATTATTCAAACTGCTCTACAGCAACTACCCTGGGTGAATTGAAAATGGAAGATAAATTGTGGGTTAGAAAGTAGATAGAAACTCTAACTTTGCAAAAGATCTTTATCCATTACTAGTATAAAAATTTTTTAAATGGCATGGCTAAGTTTTCTTCTTATAAGTGATGTTTCTTCTCAAGCGCCAGAAGCTGCATAAAGTTTTTAAAATTGATTAATATTAGCTTTATATTTTACTCG... | GGAATGCCATCAAGATTTATGATTTTACTGGCTGAAATACTACAGTAAAATATGAGAACTTAAATTTATATATGGCTTTTTCTGATTATTCAAACTGCTCTACAGCAACTACCCTGGGTGAATTGAAAATGGAAGATAAATTGTGGGTTAGAAAGTAGATAGAAACTCTAACTTTGCAAAAGATCTTTATCCATTACTAGTATAAAAATTTTTTAAATGGCATGGCTAAGTTTTCTTCTTATAAGTGATGTTTCTTCTCAAGCGCCAGAAGCTGCATAAAGTTTTTAAAATTGATTAATATTAGCTTTATATTTTACTCG... | pathogenic | 111,183 |
Assess the variant on chromosome 6, position 98917389, impacting FBXL4 (F-box and leucine rich repeat protein 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_13'] | AAAAAGAGCCCACATCACCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCCACATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATTCAA... | AAAAAGAGCCCACATCACCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCCACATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATTCAA... | pathogenic | 111,186 |
The mutation in gene FBXL4 (F-box and leucine rich repeat protein 4) at chromosome 6, position 98917404—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases'] | CACCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCCACATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATTCAAAAATTAATTCAAGAT... | CACCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCCACATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATTCAAAAATTAATTCAAGAT... | pathogenic | 111,187 |
For chromosome 6, position 98917598, gene FBXL4 (F-box and leucine rich repeat protein 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_13'] | AGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATTCAAAAATTAATTCAAGATGGATTAAAGACATAAACGTTAGACCTAAAACCATAAAAACCTTAGAAGGAAACCTAGGCATTACCATTCAGGACATAGACATGGGAAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATC... | AGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATTCAAAAATTAATTCAAGATGGATTAAAGACATAAACGTTAGACCTAAAACCATAAAAACCTTAGAAGGAAACCTAGGCATTACCATTCAGGACATAGACATGGGAAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATC... | pathogenic | 111,188 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 98917610, gene FBXL4 (F-box and leucine rich repeat protein 4). What disease(s) is it linked to if pathogenic? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_13'] | AATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATTCAAAAATTAATTCAAGATGGATTAAAGACATAAACGTTAGACCTAAAACCATAAAAACCTTAGAAGGAAACCTAGGCATTACCATTCAGGACATAGACATGGGAAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG... | AATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATTCAAAAATTAATTCAAGATGGATTAAAGACATAAACGTTAGACCTAAAACCATAAAAACCTTAGAAGGAAACCTAGGCATTACCATTCAGGACATAGACATGGGAAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG... | pathogenic | 111,189 |
A genetic variant at chromosome 6, position 99468543, affecting gene USP45 (ubiquitin specific peptidase 45)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TAAATTATCACATTTACTTTCTAGGAGTGTAGCGTATAAAAAGACTTTCAAGAATCATTATGTAATCATCTGTCAAATTTTAAAAATGACTGCCAATGATTATATGTGAAAGAAAATATAATAAAAATGATGTGATTGTAATCCATTCCATGCTGAATTGAATTCTAAAGTACCTACATTTGCACATTCTTCACACATGACCGTGCTAGTTAATTCACCAATAAAGATCCGATCTATGAAGTTCATTTTCACACCTTCTTTTCCATATGCTGTAAAAATCATACTTTTTAATGCAAAAAACATGTCAACCATCCATCTAG... | TAAATTATCACATTTACTTTCTAGGAGTGTAGCGTATAAAAAGACTTTCAAGAATCATTATGTAATCATCTGTCAAATTTTAAAAATGACTGCCAATGATTATATGTGAAAGAAAATATAATAAAAATGATGTGATTGTAATCCATTCCATGCTGAATTGAATTCTAAAGTACCTACATTTGCACATTCTTCACACATGACCGTGCTAGTTAATTCACCAATAAAGATCCGATCTATGAAGTTCATTTTCACACCTTCTTTTCCATATGCTGTAAAAATCATACTTTTTAATGCAAAAAACATGTCAACCATCCATCTAG... | benign | 111,205 |
A genetic alteration at chromosome 6, position 101682535, in gene GRIK2 (glutamate ionotropic receptor kainate type subunit 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CCTAGTTTCCTTACCCATAAAATGAACATAATAGTAGGACTGACTTCTAGGGTTTTTATGAGGCTTAAATATGTAATGTGCTTAGAATAGTATCTGACAAATTTTAAGCATTATATAAGTATTATTTTTAGTTATACATCTGAATCGTTATTTCTTTCAATTACCTTTATCTCTAGTTCTATACCTACAGAGTTGATAAAGTAAAAAAAATTGCCAAGCATAATATTGAGCTGTCATTGAATGGTACTGGAGATAGGGAGCCATCTGAACATATCCATCAGGAGCAATGAATGCCTTCTACAAATATGATCTTGTAAATT... | CCTAGTTTCCTTACCCATAAAATGAACATAATAGTAGGACTGACTTCTAGGGTTTTTATGAGGCTTAAATATGTAATGTGCTTAGAATAGTATCTGACAAATTTTAAGCATTATATAAGTATTATTTTTAGTTATACATCTGAATCGTTATTTCTTTCAATTACCTTTATCTCTAGTTCTATACCTACAGAGTTGATAAAGTAAAAAAAATTGCCAAGCATAATATTGAGCTGTCATTGAATGGTACTGGAGATAGGGAGCCATCTGAACATATCCATCAGGAGCAATGAATGCCTTCTACAAATATGATCTTGTAAATT... | benign | 111,230 |
Does the chromosome 6 mutation at position 104744232 within gene HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GTTAGACCTAAAACCATAAAAACACTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTAGAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCAAAGGA... | GTTAGACCTAAAACCATAAAAACACTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTAGAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCAAAGGA... | benign | 111,241 |
Does the variant on chromosome 6 at location 104852387 affecting gene HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATGAAAATTATAAAGTATTTGAGAAATTCAAATACTTCAAAGAAACCATATGATACTTTCAACCTTCTGGCCTTTCGTAAGCCAAATTATTCATGAAAAATTAATTTCAACACATCTACCTAAATCCTGAAAAGAGGATAGGTACCAATTAGTTAACTGATTGATTACATACCAGGAGACTGTAGATAAAAATCATTCTCCACCTATGTAAAAAATATAAAGCCAATGACTTCATCTGCAGACAGCATATAAAATCTCATATTGCTGGGATAAAAAGAAAATTTTGGTGAACTGTACCAGTAAGTACATCCAGGAAAGAC... | ATGAAAATTATAAAGTATTTGAGAAATTCAAATACTTCAAAGAAACCATATGATACTTTCAACCTTCTGGCCTTTCGTAAGCCAAATTATTCATGAAAAATTAATTTCAACACATCTACCTAAATCCTGAAAAGAGGATAGGTACCAATTAGTTAACTGATTGATTACATACCAGGAGACTGTAGATAAAAATCATTCTCCACCTATGTAAAAAATATAAAGCCAATGACTTCATCTGCAGACAGCATATAAAATCTCATATTGCTGGGATAAAAAGAAAATTTTGGTGAACTGTACCAGTAAGTACATCCAGGAAAGAC... | benign | 111,258 |
Is the genetic variant on chromosome 6, position 107634729, gene SOBP (sine oculis binding protein homolog), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TCTCAGCCTTTAATTAGTTCTGCAGCCCAACTTTAAAATAAATTTGGTGATGTCTTTCTTTTGCCAAGAGTAGATTTGAAGGGGGGAAAAAGCCATAACAACTTTTGGAAAATGTTCTCTGGTGTTTGAAAAGTTGTTAAATAAGACTGCCTGCCAAGAAATGTCACCAAAAATTCTGACTACTGAGAGAGAGTGGGCAAACAGCTCAAAAAATAATTCTAGCTTGCTGCAACATCACAGGTTGGGAATAGCTAAACCTCACACAGACTTCATGATTAATTCCAAGTTTCTCCTTGGAAGCCAGACATAATGATGTTCAG... | TCTCAGCCTTTAATTAGTTCTGCAGCCCAACTTTAAAATAAATTTGGTGATGTCTTTCTTTTGCCAAGAGTAGATTTGAAGGGGGGAAAAAGCCATAACAACTTTTGGAAAATGTTCTCTGGTGTTTGAAAAGTTGTTAAATAAGACTGCCTGCCAAGAAATGTCACCAAAAATTCTGACTACTGAGAGAGAGTGGGCAAACAGCTCAAAAAATAATTCTAGCTTGCTGCAACATCACAGGTTGGGAATAGCTAAACCTCACACAGACTTCATGATTAATTCCAAGTTTCTCCTTGGAAGCCAGACATAATGATGTTCAG... | benign | 111,330 |
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