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 |
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome 7 at position 45075969 in CCM2 (CCM2 scaffold protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cerebral_cavernous_malformation_2'] | TTCCTGATTTGCCTGTGTGCCTGTGTGTAGCCTAAGGGCACAGGCATTGGCCCCGGGCCAGGTTGCCAACTTCCACCCTGCCCTGCTGGCTCCTGTCCCTCCCATGCACTCTGTGTTCCAGCTCAGGAGAGTGGAGCTGCCCGGGTGCCTTGGTCTCCTCTGGGTGGCCCCGTGCCAGGTCTGGTAGGATGGGGACACATTGTGGTCATTCTGATGCCCCAGCCTGTGCAGAGGTGAAGCCAGAGACAGCTGGTGCTCTGGCTGGGGTTAGTGGCTGTGGCAAGGTGGGCCCGACTGCCGACTCTTGCCTACTGTGCCCA... | TTCCTGATTTGCCTGTGTGCCTGTGTGTAGCCTAAGGGCACAGGCATTGGCCCCGGGCCAGGTTGCCAACTTCCACCCTGCCCTGCTGGCTCCTGTCCCTCCCATGCACTCTGTGTTCCAGCTCAGGAGAGTGGAGCTGCCCGGGTGCCTTGGTCTCCTCTGGGTGGCCCCGTGCCAGGTCTGGTAGGATGGGGACACATTGTGGTCATTCTGATGCCCCAGCCTGTGCAGAGGTGAAGCCAGAGACAGCTGGTGCTCTGGCTGGGGTTAGTGGCTGTGGCAAGGTGGGCCCGACTGCCGACTCTTGCCTACTGTGCCCA... | pathogenic | 118,783 |
Clinical significance of chromosome 7, position 47821198, gene PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ACTTTAAACATTCCATTACCAACCAGGATACTTGAATATCCCTGCCTGGTGGCCAGAGCACCCAGAGGCAGTGAGGTTTTGCATCCCTATGGGAAACATAAGGTCTATGTAAATCCAGGAGTTGTGAATGTGAGCACATCAATCTCATGTGCACCTGAGAGATCTCACAAACATTATCTCAGCTGCGATATTTCTGATTTGAATATCAAGAAGCAACAATTCATATGAGAAATATGTCAAATAATGTTGACTTGTGAAATGTGAGATGAAAAATAAACTAGCAAAAGCCAGAGGTTTTTCATGTTTAGATTTCCATTTCC... | ACTTTAAACATTCCATTACCAACCAGGATACTTGAATATCCCTGCCTGGTGGCCAGAGCACCCAGAGGCAGTGAGGTTTTGCATCCCTATGGGAAACATAAGGTCTATGTAAATCCAGGAGTTGTGAATGTGAGCACATCAATCTCATGTGCACCTGAGAGATCTCACAAACATTATCTCAGCTGCGATATTTCTGATTTGAATATCAAGAAGCAACAATTCATATGAGAAATATGTCAAATAATGTTGACTTGTGAAATGTGAGATGAAAAATAAACTAGCAAAAGCCAGAGGTTTTTCATGTTTAGATTTCCATTTCC... | benign | 118,849 |
Clinical classification of chromosome 7, position 47831213, gene PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Heterotaxy,_visceral,_8,_autosomal', 'Inborn_genetic_diseases', 'PKD1L1-related_disorder', 'Situs_inversus'] | TCTTACTTGCTTCAGTATTTTAAAATATGCTCATTTTCTTGATGCTCTAACTTCTTTAGGATTGGAGTTAAAAAAAAATAAGTCCTATGTGTTCATCTATCATACAGGTATGTGCAAAGAAGCATAAGAAATTAAGACATCCCATGGGTCTCCAAAGATGCAACCCAATCTGAATTCAAAGCCTACATTCAGATATGCATGATAGAATATAAAGTAGTTTTTTAAATCTCAATTTGCACTGCATAGGTAATTTTTTTTACTTTTTCAACCTCGCCTGCACAGTCAGGAATACTGCAGCTTGAAGAGAAGGGGAGGCGAGT... | TCTTACTTGCTTCAGTATTTTAAAATATGCTCATTTTCTTGATGCTCTAACTTCTTTAGGATTGGAGTTAAAAAAAAATAAGTCCTATGTGTTCATCTATCATACAGGTATGTGCAAAGAAGCATAAGAAATTAAGACATCCCATGGGTCTCCAAAGATGCAACCCAATCTGAATTCAAAGCCTACATTCAGATATGCATGATAGAATATAAAGTAGTTTTTTAAATCTCAATTTGCACTGCATAGGTAATTTTTTTTACTTTTTCAACCTCGCCTGCACAGTCAGGAATACTGCAGCTTGAAGAGAAGGGGAGGCGAGT... | pathogenic | 118,853 |
Gene mutation in PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting) at chromosome 7, position 47858624—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GCTGGATGCCTAGTTGACAAAGTGCTTTCCAAAATGTCACACTGCCGAGCACCCTGGTTTACTCACTGCATCTCCACAAGCAGTAAGTGTTTTTAAGTAATTGCACTTTTGTAAGGTAAAAAAATCATTTTAATTTGTGTTTTTTATTGATTGTTAGTTTGAATTATTTTCCTATGCTGATTAGCCATTTCCATTTCCATTTAAAAAAGCAAATGCTGTAAAAGATGAGCATTTTTTGACCAAAATAAGATGTACCTAATTTGTCCATACATCCATCAGACATTTGATGGGTCACCAAATGAGCCACGTACTTGAGCCAG... | GCTGGATGCCTAGTTGACAAAGTGCTTTCCAAAATGTCACACTGCCGAGCACCCTGGTTTACTCACTGCATCTCCACAAGCAGTAAGTGTTTTTAAGTAATTGCACTTTTGTAAGGTAAAAAAATCATTTTAATTTGTGTTTTTTATTGATTGTTAGTTTGAATTATTTTCCTATGCTGATTAGCCATTTCCATTTCCATTTAAAAAAGCAAATGCTGTAAAAGATGAGCATTTTTTGACCAAAATAAGATGTACCTAATTTGTCCATACATCCATCAGACATTTGATGGGTCACCAAATGAGCCACGTACTTGAGCCAG... | benign | 118,868 |
Located at chromosome 7 position 47893998, the variant affecting gene PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Heterotaxy,_visceral,_8,_autosomal'] | AGCAAATTCCACACCTGGAATACAGCAAATATGTGTGATCACAGGGGTTGGGAAAACAACGCAACTCATCTATTGCTTTATAAATAAATATTCCCTGACTAGCTACTACATTCCAGGCATGGGGGATATATCAAATAAGAGCCCTGCCCTCCAGAGCAGTGACCATAGTAAGTGAGCAAAGGCTCGATGTCAAGGGTGACTACTGTGAAGAAAGATGCCATCAAATCAGGGTAGGATCTGTCATTTTGGAGTCTCAGTGGGGGCCCCACTGGGAAGGTGATATTTGAGCAATGAGTGAAGGCGGTGATGGCAGATGTTTG... | AGCAAATTCCACACCTGGAATACAGCAAATATGTGTGATCACAGGGGTTGGGAAAACAACGCAACTCATCTATTGCTTTATAAATAAATATTCCCTGACTAGCTACTACATTCCAGGCATGGGGGATATATCAAATAAGAGCCCTGCCCTCCAGAGCAGTGACCATAGTAAGTGAGCAAAGGCTCGATGTCAAGGGTGACTACTGTGAAGAAAGATGCCATCAAATCAGGGTAGGATCTGTCATTTTGGAGTCTCAGTGGGGGCCCCACTGGGAAGGTGATATTTGAGCAATGAGTGAAGGCGGTGATGGCAGATGTTTG... | pathogenic | 118,913 |
Variant in gene PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting), located at chromosome 7 position 47929204: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Heterotaxy,_visceral,_8,_autosomal', 'PKD1L1-related_disorder'] | ATGAAAAAAAGGTTGATAAAGTATACTTAATAAAAGTTAAAAATTCCTACATGAAAAGAAAAAAAAACTATAAGTAAAACCAAAACACAAATAACAAATTGAAAAAAAAAGTACTAAAAAGACAAATTTTCTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCGCCCAGGCAGGAATGCAGTGGTGCGATCTCAGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCCCAGCCTCCTAAGTAGGGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCA... | ATGAAAAAAAGGTTGATAAAGTATACTTAATAAAAGTTAAAAATTCCTACATGAAAAGAAAAAAAAACTATAAGTAAAACCAAAACACAAATAACAAATTGAAAAAAAAAGTACTAAAAAGACAAATTTTCTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCGCCCAGGCAGGAATGCAGTGGTGCGATCTCAGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCCCAGCCTCCTAAGTAGGGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCA... | pathogenic | 118,928 |
Clinically, how would you classify the variant at chromosome 7, position 50463376, gene DDC (dopa decarboxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Deficiency_of_aromatic-L-amino-acid_decarboxylase'] | TATGTGTAATAAACTCAAATAAGTACAAGTAAAATCAAGATATTAAGATTTTTATTGTTCTAATCTGTCCAAAACAACATACATGCATTAGGACTTACTATTGTATCACATATCTTTTTAAAAATTGAATTTCATTTTTACCTTTTGAATCTACAGCAAATATAATGACTCCAGAGGAACTGAGACTCCTATCGGAAACACACCTTTGCTGATAAATTTTCAGAGCTACACTCTCCACATATGTTCTTCTGGGCGTATGTCAATAAGATCCTGATATGATACATGCTTATGAGACAGATGCAAACGTGGGGTTGCAGAAA... | TATGTGTAATAAACTCAAATAAGTACAAGTAAAATCAAGATATTAAGATTTTTATTGTTCTAATCTGTCCAAAACAACATACATGCATTAGGACTTACTATTGTATCACATATCTTTTTAAAAATTGAATTTCATTTTTACCTTTTGAATCTACAGCAAATATAATGACTCCAGAGGAACTGAGACTCCTATCGGAAACACACCTTTGCTGATAAATTTTCAGAGCTACACTCTCCACATATGTTCTTCTGGGCGTATGTCAATAAGATCCTGATATGATACATGCTTATGAGACAGATGCAAACGTGGGGTTGCAGAAA... | pathogenic | 119,011 |
Evaluate the clinical significance of the mutation at chromosome 7, position 50467214 in gene DDC (dopa decarboxylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deficiency_of_aromatic-L-amino-acid_decarboxylase', 'Inborn_genetic_diseases'] | TCATAAAAGGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGC... | TCATAAAAGGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGC... | pathogenic | 119,014 |
Regarding the variant at chromosome 7 and position 50470157, affecting gene DDC (dopa decarboxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Deficiency_of_aromatic-L-amino-acid_decarboxylase'] | TGCTGGGGAGGACCTGCGGAAACGCGGCGCCTCGCGGGCAGGGGGTGGCTGGGACAAAAACACGTGTCATACGAGTGGTTCCTCGTCATGCCACCAGAGAGCGCCAAAGACCTCGGCCTCATGGGCGATCCCGAAAGCCGGTTCCCGCCCAAGGAGACAGGCTTTGAGCATCGCTGGACTCTGCTCCTAAGGCAGGATTGGGTCCCCTTTAAGAAAGAAGTGGAGTGTGTTTTAAACAGGAGCCAGCATGATCATAACTAGTTGTCCTTGAGCTTAAAGACGTCATCATTGTGGGGAGATAAATCCCTTATTTTTTGGCT... | TGCTGGGGAGGACCTGCGGAAACGCGGCGCCTCGCGGGCAGGGGGTGGCTGGGACAAAAACACGTGTCATACGAGTGGTTCCTCGTCATGCCACCAGAGAGCGCCAAAGACCTCGGCCTCATGGGCGATCCCGAAAGCCGGTTCCCGCCCAAGGAGACAGGCTTTGAGCATCGCTGGACTCTGCTCCTAAGGCAGGATTGGGTCCCCTTTAAGAAAGAAGTGGAGTGTGTTTTAAACAGGAGCCAGCATGATCATAACTAGTTGTCCTTGAGCTTAAAGACGTCATCATTGTGGGGAGATAAATCCCTTATTTTTTGGCT... | pathogenic | 119,019 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 50476571, gene DDC (dopa decarboxylase): what disease(s) if pathogenic? | benign | GGCGGGTGCCAGTACAGATCTGTGATTCTTGGTGAACGGTAGAAACTGTCTGAGGAGATCATGTTCCCTGAGCTGCTAGATGCGGGCAGAGCTGGGCTGGTTTTTGTCTTGGGCAATGTAACATAAGCCAGCATTGCTGGGGATTGTGCCCCAGGCCTTTGAAAGACAGTGCCAAGTTTATCTAAAAGGACTTTGGTTCCCAGAGGACTTGTTAGTCAATACGGAGTTTTTAGCAAAGCCTATGTTATTTTATGTGAACCAGAGATGGTGTTGTGCCTTTTTTTCTAATGATATCTAAGCTGGGAAAGAGCAAAATTAAA... | GGCGGGTGCCAGTACAGATCTGTGATTCTTGGTGAACGGTAGAAACTGTCTGAGGAGATCATGTTCCCTGAGCTGCTAGATGCGGGCAGAGCTGGGCTGGTTTTTGTCTTGGGCAATGTAACATAAGCCAGCATTGCTGGGGATTGTGCCCCAGGCCTTTGAAAGACAGTGCCAAGTTTATCTAAAAGGACTTTGGTTCCCAGAGGACTTGTTAGTCAATACGGAGTTTTTAGCAAAGCCTATGTTATTTTATGTGAACCAGAGATGGTGTTGTGCCTTTTTTTCTAATGATATCTAAGCTGGGAAAGAGCAAAATTAAA... | benign | 119,021 |
Regarding the variant at chromosome 7 and position 50537978, affecting gene DDC: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Deficiency_of_aromatic-L-amino-acid_decarboxylase'] | TGGTCACAAGGAGATGCGACCAGGAAAGTGTGAAAGGAAAATAAATCTTGGGACCCCCAAATCACTAAGCCAAAGGGAAAAGTCAAGCTGGGAACTGCTTAGGCCAAACCTGCCTCCCATTCTATTCCTAAAAGAGATAGCTACTAAGATAAAAAGCTACATGCCTCCCTCATAAGGAATTTCCTTTTGGATGAAGGACAGACAGAACTCAAAGTCACCCCTCTGCCCACTGAGATAGCTGCACATCTGATGGCCTCCTTTGGAAAGGCTAATCAGAAACTCAAAAGAATGCAACCAATTGTCTCTTATCTACCTATGAC... | TGGTCACAAGGAGATGCGACCAGGAAAGTGTGAAAGGAAAATAAATCTTGGGACCCCCAAATCACTAAGCCAAAGGGAAAAGTCAAGCTGGGAACTGCTTAGGCCAAACCTGCCTCCCATTCTATTCCTAAAAGAGATAGCTACTAAGATAAAAAGCTACATGCCTCCCTCATAAGGAATTTCCTTTTGGATGAAGGACAGACAGAACTCAAAGTCACCCCTCTGCCCACTGAGATAGCTGCACATCTGATGGCCTCCTTTGGAAAGGCTAATCAGAAACTCAAAAGAATGCAACCAATTGTCTCTTATCTACCTATGAC... | pathogenic | 119,046 |
Mutation found at chromosome 7 position 50543957, gene DDC (dopa decarboxylase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Deficiency_of_aromatic-L-amino-acid_decarboxylase', 'Inborn_genetic_diseases'] | GTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGAGAGAGGGAGCTAACACAGTCTAGGCTTGGGGGCTCAGGTGTGGGAGGTTGGTGATGAGGCTGAGAGGCCGAGAGGAGCTGCACAGGCTGTGATGCCTTCAGCACAGCAGGTCCAGGCCCACGACACTGTTAGGGGCTGAAAAAATGCTTAAATTTCTTCTGTAATCAGGAGGAAAAAACAGTGAACTTTCAGGTTAAAGAAAAAAAATCGATGTTAATATATTCATCTTTATGCCAATGCATTTGTAAAGCATAA... | GTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGAGAGAGGGAGCTAACACAGTCTAGGCTTGGGGGCTCAGGTGTGGGAGGTTGGTGATGAGGCTGAGAGGCCGAGAGGAGCTGCACAGGCTGTGATGCCTTCAGCACAGCAGGTCCAGGCCCACGACACTGTTAGGGGCTGAAAAAATGCTTAAATTTCTTCTGTAATCAGGAGGAAAAAACAGTGAACTTTCAGGTTAAAGAAAAAAAATCGATGTTAATATATTCATCTTTATGCCAATGCATTTGTAAAGCATAA... | pathogenic | 119,059 |
Determine if the mutation at chromosome 7, position 55173900 in gene EGFR (epidermal growth factor receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TCCAAACATGAACCAAACTTCCAGGCCCCTCTGCCATCTCTGGTAACATTTACAAAGTCCCTTCCTCACCACTGCCCTTCCTTCATTTTGGCATGCTCCTCCGCCCCCGAGTTGACAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATT... | TCCAAACATGAACCAAACTTCCAGGCCCCTCTGCCATCTCTGGTAACATTTACAAAGTCCCTTCCTCACCACTGCCCTTCCTTCATTTTGGCATGCTCCTCCGCCCCCGAGTTGACAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATT... | benign | 119,284 |
Variant in gene EGFR (epidermal growth factor receptor), located at chromosome 7 position 55173911: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ACCAAACTTCCAGGCCCCTCTGCCATCTCTGGTAACATTTACAAAGTCCCTTCCTCACCACTGCCCTTCCTTCATTTTGGCATGCTCCTCCGCCCCCGAGTTGACAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACAT... | ACCAAACTTCCAGGCCCCTCTGCCATCTCTGGTAACATTTACAAAGTCCCTTCCTCACCACTGCCCTTCCTTCATTTTGGCATGCTCCTCCGCCCCCGAGTTGACAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACAT... | benign | 119,285 |
Assess the variant on chromosome 7, position 55198724, impacting EGFR (epidermal growth factor receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CATGTTGAGTTTATTTTTGTGTATGGTGTAAGGAAGGAGTCCAGTTTCAATCTTCTTCATGGCTAGCTAGTCATCATTTATTGAGTAGGGAGTCCTTTATTCATTGCTTTTTTTTTTTTGTCAACTTTGTCAACGATCACATGGTTGTAGGTGTGCAGCCTTATTTCTGGGCTCTCTATTCTGTTTCATTGGTCTGTATGTCTGTTTCTGTACTAGTACCATGCTGTTTTGGTTACTGTATCCCTGTAGTTTAAAGTCAGGTAGCATCATGCTTCCAGCTTTGTTCTTTTTGCTTAGGATTGCCTTGGCAATTCAGGCTC... | CATGTTGAGTTTATTTTTGTGTATGGTGTAAGGAAGGAGTCCAGTTTCAATCTTCTTCATGGCTAGCTAGTCATCATTTATTGAGTAGGGAGTCCTTTATTCATTGCTTTTTTTTTTTTGTCAACTTTGTCAACGATCACATGGTTGTAGGTGTGCAGCCTTATTTCTGGGCTCTCTATTCTGTTTCATTGGTCTGTATGTCTGTTTCTGTACTAGTACCATGCTGTTTTGGTTACTGTATCCCTGTAGTTTAAAGTCAGGTAGCATCATGCTTCCAGCTTTGTTCTTTTTGCTTAGGATTGCCTTGGCAATTCAGGCTC... | benign | 119,415 |
A genetic variant at chromosome 7, position 65960977, affecting gene GUSB (glucuronidase beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucopolysaccharidosis_type_7'] | GAATCCGTTGGAAATACAGCTGAGCCATACTTCACGGAATAGAACAAGTGTGTTCTGTGCTGGAGCTCAAGACCTGTGGAAAGGGACTGCCCCCACTGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTAGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTGCCTCTACTGAAAAATACAGAAAAATTAGCCAGGATTGTGGTGTGCGCCTGTAATCCCAGCTATTCAGGAAGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGT... | GAATCCGTTGGAAATACAGCTGAGCCATACTTCACGGAATAGAACAAGTGTGTTCTGTGCTGGAGCTCAAGACCTGTGGAAAGGGACTGCCCCCACTGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTAGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTGCCTCTACTGAAAAATACAGAAAAATTAGCCAGGATTGTGGTGTGCGCCTGTAATCCCAGCTATTCAGGAAGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGT... | pathogenic | 119,541 |
Does the variant on chromosome 7 at location 65970268 affecting gene GUSB (glucuronidase beta) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Mucopolysaccharidosis_type_7'] | CCATTTCTACCAAAAAAAAAAAAAAAAAAAAACCTAGAACGGGAACAGCTGCCTCCTGGGGCTGAGAACGTCCAAGTGTACCAATTTAGATCCTGAAATTACCCTGCCATAGGCAAGAAACATGGTCACAAAGTGGCCCAGAGGAGGTAGGCCTGGGACTCCACACTGACACTCATGACGTGCGCCGCTGGGAAGGGCTGTGAGAGGCACAGCAGCTGCCAACGCACAGCCCTCAGCCAAAGCCCAGGGCCCCCACCACTGGAACTGACTCCTCTCCAGGCAGCACTCCCATCACTGGGCTTCCCCTCACCTTGCCCTGG... | CCATTTCTACCAAAAAAAAAAAAAAAAAAAAACCTAGAACGGGAACAGCTGCCTCCTGGGGCTGAGAACGTCCAAGTGTACCAATTTAGATCCTGAAATTACCCTGCCATAGGCAAGAAACATGGTCACAAAGTGGCCCAGAGGAGGTAGGCCTGGGACTCCACACTGACACTCATGACGTGCGCCGCTGGGAAGGGCTGTGAGAGGCACAGCAGCTGCCAACGCACAGCCCTCAGCCAAAGCCCAGGGCCCCCACCACTGGAACTGACTCCTCTCCAGGCAGCACTCCCATCACTGGGCTTCCCCTCACCTTGCCCTGG... | pathogenic | 119,550 |
Does the variant impacting GUSB (glucuronidase beta) on chromosome 7, position 65970302, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis_type_7'] | TAGAACGGGAACAGCTGCCTCCTGGGGCTGAGAACGTCCAAGTGTACCAATTTAGATCCTGAAATTACCCTGCCATAGGCAAGAAACATGGTCACAAAGTGGCCCAGAGGAGGTAGGCCTGGGACTCCACACTGACACTCATGACGTGCGCCGCTGGGAAGGGCTGTGAGAGGCACAGCAGCTGCCAACGCACAGCCCTCAGCCAAAGCCCAGGGCCCCCACCACTGGAACTGACTCCTCTCCAGGCAGCACTCCCATCACTGGGCTTCCCCTCACCTTGCCCTGGAGAAGCGCTGCCACCCGAGGGGCCGATGCAGTCA... | TAGAACGGGAACAGCTGCCTCCTGGGGCTGAGAACGTCCAAGTGTACCAATTTAGATCCTGAAATTACCCTGCCATAGGCAAGAAACATGGTCACAAAGTGGCCCAGAGGAGGTAGGCCTGGGACTCCACACTGACACTCATGACGTGCGCCGCTGGGAAGGGCTGTGAGAGGCACAGCAGCTGCCAACGCACAGCCCTCAGCCAAAGCCCAGGGCCCCCACCACTGGAACTGACTCCTCTCCAGGCAGCACTCCCATCACTGGGCTTCCCCTCACCTTGCCCTGGAGAAGCGCTGCCACCCGAGGGGCCGATGCAGTCA... | pathogenic | 119,551 |
Regarding the variant found on chromosome 7 at position 65979372 in gene GUSB (glucuronidase beta): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACACCACAATGTCCAGCTAATGTTGGCTAAGCTGGTTTGAACTTCTGAGCTCAAGTGATCCACCCATCTCGGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCAGTGCACCCAGGCTGTTCTAAACTTAACTTCCAAAATACCTTTCCTTGGCAATAAATTGCTCTATGGTGCATTGTCTTTGCTGTGGGATTCTTTTTTAAATTCTTTTTTATTCATTTATTTTATTTTATTTATTTATTTTTTTCTTAGATAGGGTCTCAGTATGTTGCCCAGGCTGGTCTCAAACTTTGCAGCTAAAGCGATCCATCCACCTTGG... | ACACCACAATGTCCAGCTAATGTTGGCTAAGCTGGTTTGAACTTCTGAGCTCAAGTGATCCACCCATCTCGGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCAGTGCACCCAGGCTGTTCTAAACTTAACTTCCAAAATACCTTTCCTTGGCAATAAATTGCTCTATGGTGCATTGTCTTTGCTGTGGGATTCTTTTTTAAATTCTTTTTTATTCATTTATTTTATTTTATTTATTTATTTTTTTCTTAGATAGGGTCTCAGTATGTTGCCCAGGCTGGTCTCAAACTTTGCAGCTAAAGCGATCCATCCACCTTGG... | benign | 119,567 |
Does the genetic variant at chromosome 7, position 66081899, impacting gene ASL (argininosuccinate lyase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Argininosuccinate_lyase_deficiency'] | CTCATGATCCACCCACCTTAGCCTTCCAAAATGCTGGGATTACAGGCATGAGCCACCACTCCCAGTCCTATAAAATTTTAAAAAAATGTCTGGGTGTGGTGGCGCATGCTTGTAGTCCCAACTATTGGGGAGGCTGAGGCAAGAGGATTGGTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACCGCACTCCAACCTGGGTAACAAAGTGAGACCCTGTGTCTAAAAAAGAATTTAAAGGCCGGGTGTGGTGGCTCACACCCGTAATCCCAGGACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTC... | CTCATGATCCACCCACCTTAGCCTTCCAAAATGCTGGGATTACAGGCATGAGCCACCACTCCCAGTCCTATAAAATTTTAAAAAAATGTCTGGGTGTGGTGGCGCATGCTTGTAGTCCCAACTATTGGGGAGGCTGAGGCAAGAGGATTGGTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACCGCACTCCAACCTGGGTAACAAAGTGAGACCCTGTGTCTAAAAAAGAATTTAAAGGCCGGGTGTGGTGGCTCACACCCGTAATCCCAGGACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTC... | pathogenic | 119,592 |
A genetic variant at chromosome 7, position 66083153, affecting gene ASL (argininosuccinate lyase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Argininosuccinate_lyase_deficiency'] | TTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATA... | TTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATA... | pathogenic | 119,617 |
Variant in gene ASL (argininosuccinate lyase), located at chromosome 7 position 66086749: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Argininosuccinate_lyase_deficiency'] | CCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAA... | CCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAA... | pathogenic | 119,626 |
Is chromosome 7, position 66086767, gene ASL (argininosuccinate lyase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Argininosuccinate_lyase_deficiency'] | ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACT... | ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACT... | pathogenic | 119,631 |
Clinical classification of chromosome 7, position 66087360, gene ASL (argininosuccinate lyase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Argininosuccinate_lyase_deficiency'] | ACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACG... | ACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTTTTTTTTTTTGAGACG... | pathogenic | 119,650 |
Regarding the variant found on chromosome 7 at position 66087719 in gene ASL (argininosuccinate lyase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGA... | AATCTCAACTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGA... | benign | 119,658 |
Variant on chromosome 7, at position 66088851, affecting ASL (argininosuccinate lyase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Argininosuccinate_lyase_deficiency'] | ATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGA... | ATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGA... | pathogenic | 119,668 |
A genetic variant at chromosome 7, position 66089327, affecting gene ASL (argininosuccinate lyase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Argininosuccinate_lyase_deficiency'] | TGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGA... | TGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGA... | pathogenic | 119,675 |
A genetic variant at chromosome 7, position 66089345, affecting gene ASL (argininosuccinate lyase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTC... | CAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAGAATCACCCTCAGCACCCGCCAAGACCTGCAGACACACCTGAAACCAGAGGGCAGGGGCCTGTGGCTCCTGGTGAAACCTTCATTCATTGCCTATGGGCACTGAGGTCATCAAGTTCAGGGGTCACTCATGGCAGGGATGCCTGGTACTGAGAGACTCAGGGCTCCTGCCTCCCTCCTGGGACTGTGCAAAAGATCCCTC... | benign | 119,679 |
Regarding the variant found on chromosome 7 at position 66089675 in gene ASL (argininosuccinate lyase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Argininosuccinate_lyase_deficiency', 'Neurodevelopmental_disorder'] | TTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCA... | TTGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCA... | pathogenic | 119,685 |
Assess the variant on chromosome 7, position 66089676, impacting ASL (argininosuccinate lyase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Argininosuccinate_lyase_deficiency'] | TGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCAT... | TGCCCCACCCTGATCAGGGGAGGGGGCTGGGCAACCTAGTTGGGGGAGAGGGGGCCACTCCCTGTCCTCCAGCTTAGCCCTGCTTCCTCCCACCCCCCCAGAACTCAACTTTGGGGCCATCACTCTCAACAGCATGGATGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCCTCACTTTAGTCCTTCAGCCCAGCTTCTCTCCAGTTTCCTCCCACACCTCCACGGACAGGCTGGTTGTGGTGATATTGTACACTGAAGTATAAACCTTAAATGGGTAAAGTGGGTGGGGCAT... | pathogenic | 119,686 |
Chromosome 7, position 66092615, gene ASL (argininosuccinate lyase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Argininosuccinate_lyase_deficiency'] | CCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGT... | CCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGT... | pathogenic | 119,703 |
The mutation in gene ASL (argininosuccinate lyase) at chromosome 7, position 66092771—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Argininosuccinate_lyase_deficiency'] | ACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTG... | ACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTG... | pathogenic | 119,704 |
Gene mutation in KCTD7 (potassium channel tetramerization domain containing 7) at chromosome 7, position 66638448—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTAAGCTGTTATTGAGGTAGCAGCATTATCTTGGGGTTTACTCACTGTCTTCCGCACGTACGGGTGATGTATCTGATTACTCTGAGCACTAAATAATCTAAAAAGCTGGTGGCTTGCACCTATGGTCCCAGTTATTCGGGAGGCTGAGGCAAGAGGACTGCTTGAGCCCAGGAGTTAGAGGCTGCAGTGAG... | TATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTAAGCTGTTATTGAGGTAGCAGCATTATCTTGGGGTTTACTCACTGTCTTCCGCACGTACGGGTGATGTATCTGATTACTCTGAGCACTAAATAATCTAAAAAGCTGGTGGCTTGCACCTATGGTCCCAGTTATTCGGGAGGCTGAGGCAAGAGGACTGCTTGAGCCCAGGAGTTAGAGGCTGCAGTGAG... | benign | 119,737 |
Determine whether the variant at chromosome 7, position 66993222, in gene SBDS (SBDS ribosome maturation factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Aplastic_anemia', 'Shwachman-Diamond_syndrome_1'] | ACCTTGATCAGTGGCTTGAGCTTTTCTTTCAGCTTCTTGCCTTCATTGACTGGAAGGATGAACCGAAGCCTCATGTGAGCACGTTCTATCTTCATTTTCTCTTTTAACTGCTTTATCACTTCCAAAGCCTACCAAGACAAAATCGAGAATGCAATTTCTTCTACTATATTATTTCATAAGGTTTTCAAAAACAAAGTAGTTTCCATGTAGTTGGATTAGGTAATGGTTTCTTAGGTATAACATTAAGAACATAAGTGACCGTTAAAAAAAAAATAGAAAAATTGGACTTATCAAGAAGAAAAGCTTTTGTGTTTCAAAAA... | ACCTTGATCAGTGGCTTGAGCTTTTCTTTCAGCTTCTTGCCTTCATTGACTGGAAGGATGAACCGAAGCCTCATGTGAGCACGTTCTATCTTCATTTTCTCTTTTAACTGCTTTATCACTTCCAAAGCCTACCAAGACAAAATCGAGAATGCAATTTCTTCTACTATATTATTTCATAAGGTTTTCAAAAACAAAGTAGTTTCCATGTAGTTGGATTAGGTAATGGTTTCTTAGGTATAACATTAAGAACATAAGTGACCGTTAAAAAAAAAATAGAAAAATTGGACTTATCAAGAAGAAAAGCTTTTGTGTTTCAAAAA... | pathogenic | 119,765 |
Is the genetic variant on chromosome 7, position 66993367, gene SBDS (SBDS ribosome maturation factor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Aplastic_anemia', 'Shwachman-Diamond_syndrome_1'] | AGAATGCAATTTCTTCTACTATATTATTTCATAAGGTTTTCAAAAACAAAGTAGTTTCCATGTAGTTGGATTAGGTAATGGTTTCTTAGGTATAACATTAAGAACATAAGTGACCGTTAAAAAAAAAATAGAAAAATTGGACTTATCAAGAAGAAAAGCTTTTGTGTTTCAAAAAACTATGAAGAAAGTGAAGGCCAGGTGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGTGCATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAA... | AGAATGCAATTTCTTCTACTATATTATTTCATAAGGTTTTCAAAAACAAAGTAGTTTCCATGTAGTTGGATTAGGTAATGGTTTCTTAGGTATAACATTAAGAACATAAGTGACCGTTAAAAAAAAAATAGAAAAATTGGACTTATCAAGAAGAAAAGCTTTTGTGTTTCAAAAAACTATGAAGAAAGTGAAGGCCAGGTGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGTGCATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAA... | pathogenic | 119,770 |
Mutation found at chromosome 7 position 66993375, gene SBDS (SBDS ribosome maturation factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Aplastic_anemia', 'SBDS-related_disorder', 'Shwachman-Diamond_syndrome_1'] | ATTTCTTCTACTATATTATTTCATAAGGTTTTCAAAAACAAAGTAGTTTCCATGTAGTTGGATTAGGTAATGGTTTCTTAGGTATAACATTAAGAACATAAGTGACCGTTAAAAAAAAAATAGAAAAATTGGACTTATCAAGAAGAAAAGCTTTTGTGTTTCAAAAAACTATGAAGAAAGTGAAGGCCAGGTGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGTGCATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAAGAA... | ATTTCTTCTACTATATTATTTCATAAGGTTTTCAAAAACAAAGTAGTTTCCATGTAGTTGGATTAGGTAATGGTTTCTTAGGTATAACATTAAGAACATAAGTGACCGTTAAAAAAAAAATAGAAAAATTGGACTTATCAAGAAGAAAAGCTTTTGTGTTTCAAAAAACTATGAAGAAAGTGAAGGCCAGGTGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGTGCATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAAGAA... | pathogenic | 119,771 |
Benign or pathogenic: chromosome 7, position 66994286, gene SBDS (SBDS ribosome maturation factor) variant? Disease(s) if pathogenic? | pathogenic; ['Aplastic_anemia', 'Inborn_genetic_diseases', 'SBDS-related_disorder', 'Shwachman-Diamond_syndrome_1', 'Shwachman_syndrome'] | TGTATGATTCCATTTATATGAAATGTCCAGAATTGAGAAGTCCATAACGAGAGGAGATTAGTGGTTGGGAGGGGCCTGTGGGGGGAAAATGGGGGATGGCTACTAATGGATACTGACTTTCTTTTTGTGGTGATGAAAATGTTCTCGAACCAGGTAGCAGGGAAGGTTCCAAAACTTTGTTAATATACCACTTAAAGTGTACATACTTTATGAGTGTGAAATTTATGGTATGTGAATTATATATAAATTAAAAAATTCAAAAAGAAGTGTTAAAATGACCCTTTAAAAACTCAAGTTTTGTCTTTAAAAGTTTGATTTGG... | TGTATGATTCCATTTATATGAAATGTCCAGAATTGAGAAGTCCATAACGAGAGGAGATTAGTGGTTGGGAGGGGCCTGTGGGGGGAAAATGGGGGATGGCTACTAATGGATACTGACTTTCTTTTTGTGGTGATGAAAATGTTCTCGAACCAGGTAGCAGGGAAGGTTCCAAAACTTTGTTAATATACCACTTAAAGTGTACATACTTTATGAGTGTGAAATTTATGGTATGTGAATTATATATAAATTAAAAAATTCAAAAAGAAGTGTTAAAATGACCCTTTAAAAACTCAAGTTTTGTCTTTAAAAGTTTGATTTGG... | pathogenic | 119,778 |
Determine if the mutation at chromosome 7, position 66995297 in gene SBDS (SBDS ribosome maturation factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Aplastic_anemia', 'Shwachman-Diamond_syndrome_1'] | AATAGTGGATGTCCTTCATGGCTCTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTG... | AATAGTGGATGTCCTTCATGGCTCTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTG... | pathogenic | 119,785 |
For chromosome 7, position 66995399, gene SBDS (SBDS ribosome maturation factor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Aplastic_anemia', 'Shwachman-Diamond_syndrome_1'] | TAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTTGGCTGGGCTCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGTGGCTAAGGCGGGCATATCACCCAAGGTCAGGAGTT... | TAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTTGGCTGGGCTCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGTGGCTAAGGCGGGCATATCACCCAAGGTCAGGAGTT... | pathogenic | 119,788 |
Located at chromosome 7 position 66995404, the variant affecting gene SBDS (SBDS ribosome maturation factor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Aplastic_anemia', 'Shwachman-Diamond_syndrome_1'] | ATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTTGGCTGGGCTCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGTGGCTAAGGCGGGCATATCACCCAAGGTCAGGAGTTTGAGA... | ATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTTGGCTGGGCTCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGTGGCTAAGGCGGGCATATCACCCAAGGTCAGGAGTTTGAGA... | pathogenic | 119,789 |
Variant in gene AUTS2 (activator of transcription and developmental regulator AUTS2), located at chromosome 7 position 69599972: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GCGCGAAGTGGCCTGGGAGCAGGGGCCCACACGCGTCCCCGCTGCGACAGGCGGGATCCTCCGGCGGCTTCCACGCCCTGGCGCGCCAACTCTGCCCGGCCGCGGCCGACCCCACGCGGGCGCCCCCTCCACGCCCCCGCCCCCGCCCCCCTCACAGCTCCCCACCGCCCCCAGTGCGCAGGCCCGGCCGCCCCAGCGCGCATGCCCTGGGCTCGCGAGCGCGGCCAGCCCCCAGCCTTTTGCTTTCTACACACTCTACAACTGGGGAGGGGGCGGGGGAGGAGGGAGCCCAGCCGTCCACGTGATCCCGCCGGCCGGGG... | GCGCGAAGTGGCCTGGGAGCAGGGGCCCACACGCGTCCCCGCTGCGACAGGCGGGATCCTCCGGCGGCTTCCACGCCCTGGCGCGCCAACTCTGCCCGGCCGCGGCCGACCCCACGCGGGCGCCCCCTCCACGCCCCCGCCCCCGCCCCCCTCACAGCTCCCCACCGCCCCCAGTGCGCAGGCCCGGCCGCCCCAGCGCGCATGCCCTGGGCTCGCGAGCGCGGCCAGCCCCCAGCCTTTTGCTTTCTACACACTCTACAACTGGGGAGGGGGCGGGGGAGGAGGGAGCCCAGCCGTCCACGTGATCCCGCCGGCCGGGG... | benign | 119,799 |
Is the genetic variant on chromosome 7, position 70435744, gene AUTS2 (activator of transcription and developmental regulator AUTS2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TATCTGACTACCCTGTGGCACTGAGGAGCCAATGGGAGAAGTAGAAAATGTTCTAATCCTCCAGTCTATAAGACTGTGATATAAGTTCCTAAATGCTTTTACTACGGAGTGCTTAGTCTGAAAAGAATAAGTAGTCCCCAGGTTGTCTCATAATAGCAAGAAGTCCATTTAGATGGGTGTTCTGTTACTTCCCATTAAAAGCTCTCTAATAGGAGCTTAAACAATAAGGTAACTTAGTGTTTTCTGAATAAAAGTCCTGAGGCAGGCTGCCCTGAGATGGGTTCAGTGGTCCAATTCTGTCAGGCATTTTTTCCCTTGGT... | TATCTGACTACCCTGTGGCACTGAGGAGCCAATGGGAGAAGTAGAAAATGTTCTAATCCTCCAGTCTATAAGACTGTGATATAAGTTCCTAAATGCTTTTACTACGGAGTGCTTAGTCTGAAAAGAATAAGTAGTCCCCAGGTTGTCTCATAATAGCAAGAAGTCCATTTAGATGGGTGTTCTGTTACTTCCCATTAAAAGCTCTCTAATAGGAGCTTAAACAATAAGGTAACTTAGTGTTTTCTGAATAAAAGTCCTGAGGCAGGCTGCCCTGAGATGGGTTCAGTGGTCCAATTCTGTCAGGCATTTTTTCCCTTGGT... | benign | 119,811 |
Mutation found at chromosome 7 position 70764834, gene AUTS2 (activator of transcription and developmental regulator AUTS2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autism_spectrum_disorder_due_to_AUTS2_deficiency'] | GATAGCCTTGGAGTTTCCTTTCCCTCCTTATGCCACACTCGCATGTCATTGCCTGTGGTTTTGTCTTTGCTCTCTCCCATGCAGATCCGGAGTTAGGTGTTGGCACGCTACCAGAACATGACAGCCAGGATGCAGGGCCGATTGTCCCCAAGATATCGGGTCTAGAGAGAAGCCAGGAGAAGAGCCAGGACTGTTGCAAAGAGCCAATCTTTGAGCCTGTGGTGCTTAAAGACCCCTGCCCTCAGGTCGCACAGCCAATACCCCAGCCGCAGACGGAGCCCCAACTCCGAGCTCCTTCTCCGGACCCTGACTTGGTGCAG... | GATAGCCTTGGAGTTTCCTTTCCCTCCTTATGCCACACTCGCATGTCATTGCCTGTGGTTTTGTCTTTGCTCTCTCCCATGCAGATCCGGAGTTAGGTGTTGGCACGCTACCAGAACATGACAGCCAGGATGCAGGGCCGATTGTCCCCAAGATATCGGGTCTAGAGAGAAGCCAGGAGAAGAGCCAGGACTGTTGCAAAGAGCCAATCTTTGAGCCTGTGGTGCTTAAAGACCCCTGCCCTCAGGTCGCACAGCCAATACCCCAGCCGCAGACGGAGCCCCAACTCCGAGCTCCTTCTCCGGACCCTGACTTGGTGCAG... | pathogenic | 119,840 |
Determine if the mutation at chromosome 7, position 70764999 in gene AUTS2 (activator of transcription and developmental regulator AUTS2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autism_spectrum_disorder_due_to_AUTS2_deficiency'] | AGAGAAGCCAGGAGAAGAGCCAGGACTGTTGCAAAGAGCCAATCTTTGAGCCTGTGGTGCTTAAAGACCCCTGCCCTCAGGTCGCACAGCCAATACCCCAGCCGCAGACGGAGCCCCAACTCCGAGCTCCTTCTCCGGACCCTGACTTGGTGCAGCGCACAGAGGCCCCACCTCAACCCCCACCTCTGAGTACACAGCCACCACAGGGCCCTCCTGAGGCCCAGCTCCAGCCTGCCCCGCAGCCTCAGGTGCAGAGGCCACCCAGGCCACAGTCCCCCACCCAGCTGCTCCATCAGAACCTCCCACCTGTGCAGGCCCAC... | AGAGAAGCCAGGAGAAGAGCCAGGACTGTTGCAAAGAGCCAATCTTTGAGCCTGTGGTGCTTAAAGACCCCTGCCCTCAGGTCGCACAGCCAATACCCCAGCCGCAGACGGAGCCCCAACTCCGAGCTCCTTCTCCGGACCCTGACTTGGTGCAGCGCACAGAGGCCCCACCTCAACCCCCACCTCTGAGTACACAGCCACCACAGGGCCCTCCTGAGGCCCAGCTCCAGCCTGCCCCGCAGCCTCAGGTGCAGAGGCCACCCAGGCCACAGTCCCCCACCCAGCTGCTCCATCAGAACCTCCCACCTGTGCAGGCCCAC... | pathogenic | 119,843 |
Assess the variant on chromosome 7, position 70766175, impacting AUTS2 (activator of transcription and developmental regulator AUTS2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autism_spectrum_disorder_due_to_AUTS2_deficiency'] | TGGTGGCTTTGGTGGTTCCGGGCCTTGCTTTTTCCTAAGAGGGGAAAGCACAGTCTTTGGGGGGCAGGTTTCCTCCTTCCCCAAGGAGCCGGGCCCGGCTTCTGCCCCCTCGGCCGTTTCTGTGGCCTCCAGACCATAAAGTGATGTGAGAACCCAGGCACCTGGGTTTCACCTCTTCTTTGTGTGTCTTCATTTAAGAGGTAACAAGACAGATGGGGGGAACTCAGATCATCGCTTTTTTTATTCCTTTTTGTTAACCGTTGCTTTATAGGAGATGTAGCTAGTGGAGGATGGAAGGCTGGGGATTTTCTAGGGGCATT... | TGGTGGCTTTGGTGGTTCCGGGCCTTGCTTTTTCCTAAGAGGGGAAAGCACAGTCTTTGGGGGGCAGGTTTCCTCCTTCCCCAAGGAGCCGGGCCCGGCTTCTGCCCCCTCGGCCGTTTCTGTGGCCTCCAGACCATAAAGTGATGTGAGAACCCAGGCACCTGGGTTTCACCTCTTCTTTGTGTGTCTTCATTTAAGAGGTAACAAGACAGATGGGGGGAACTCAGATCATCGCTTTTTTTATTCCTTTTTGTTAACCGTTGCTTTATAGGAGATGTAGCTAGTGGAGGATGGAAGGCTGGGGATTTTCTAGGGGCATT... | pathogenic | 119,848 |
Gene mutation in AUTS2 (activator of transcription and developmental regulator AUTS2) at chromosome 7, position 70790590—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGGCCGCGAGCTCTCTGTACACAGCCTGTCACTAGGTGCAATGCAGGATGTGGCCACCAGCCCTTTGCGTGTTTTTCTGGATGGCGTCAAAATGGCCTCTTGGATTAAAGTCAGGAAGCTTAATAAATAAAATATACTCTTCTTCCATCCTTCCCTTAAAAGTTATTCTTCTTCTCTGCATGTGGGCAAGAAACAGCCCTTATAGGGGAGCCTCCTGAATACTCTGTGGTCCTCTGATCCTTGCACACCAGCACCAAGCCAGCATGGCAGCCTGCTGCTCTCCTCAACTTTGCCATATCTGTCTTGGCACCATCCGTAAG... | AGGCCGCGAGCTCTCTGTACACAGCCTGTCACTAGGTGCAATGCAGGATGTGGCCACCAGCCCTTTGCGTGTTTTTCTGGATGGCGTCAAAATGGCCTCTTGGATTAAAGTCAGGAAGCTTAATAAATAAAATATACTCTTCTTCCATCCTTCCCTTAAAAGTTATTCTTCTTCTCTGCATGTGGGCAAGAAACAGCCCTTATAGGGGAGCCTCCTGAATACTCTGTGGTCCTCTGATCCTTGCACACCAGCACCAAGCCAGCATGGCAGCCTGCTGCTCTCCTCAACTTTGCCATATCTGTCTTGGCACCATCCGTAAG... | benign | 119,917 |
Variant on chromosome 7, at position 70790590, affecting AUTS2 (activator of transcription and developmental regulator AUTS2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGGCCGCGAGCTCTCTGTACACAGCCTGTCACTAGGTGCAATGCAGGATGTGGCCACCAGCCCTTTGCGTGTTTTTCTGGATGGCGTCAAAATGGCCTCTTGGATTAAAGTCAGGAAGCTTAATAAATAAAATATACTCTTCTTCCATCCTTCCCTTAAAAGTTATTCTTCTTCTCTGCATGTGGGCAAGAAACAGCCCTTATAGGGGAGCCTCCTGAATACTCTGTGGTCCTCTGATCCTTGCACACCAGCACCAAGCCAGCATGGCAGCCTGCTGCTCTCCTCAACTTTGCCATATCTGTCTTGGCACCATCCGTAAG... | AGGCCGCGAGCTCTCTGTACACAGCCTGTCACTAGGTGCAATGCAGGATGTGGCCACCAGCCCTTTGCGTGTTTTTCTGGATGGCGTCAAAATGGCCTCTTGGATTAAAGTCAGGAAGCTTAATAAATAAAATATACTCTTCTTCCATCCTTCCCTTAAAAGTTATTCTTCTTCTCTGCATGTGGGCAAGAAACAGCCCTTATAGGGGAGCCTCCTGAATACTCTGTGGTCCTCTGATCCTTGCACACCAGCACCAAGCCAGCATGGCAGCCTGCTGCTCTCCTCAACTTTGCCATATCTGTCTTGGCACCATCCGTAAG... | benign | 119,918 |
Variant in AUTS2 (activator of transcription and developmental regulator AUTS2), chromosome 7, position 70790590—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AGGCCGCGAGCTCTCTGTACACAGCCTGTCACTAGGTGCAATGCAGGATGTGGCCACCAGCCCTTTGCGTGTTTTTCTGGATGGCGTCAAAATGGCCTCTTGGATTAAAGTCAGGAAGCTTAATAAATAAAATATACTCTTCTTCCATCCTTCCCTTAAAAGTTATTCTTCTTCTCTGCATGTGGGCAAGAAACAGCCCTTATAGGGGAGCCTCCTGAATACTCTGTGGTCCTCTGATCCTTGCACACCAGCACCAAGCCAGCATGGCAGCCTGCTGCTCTCCTCAACTTTGCCATATCTGTCTTGGCACCATCCGTAAG... | AGGCCGCGAGCTCTCTGTACACAGCCTGTCACTAGGTGCAATGCAGGATGTGGCCACCAGCCCTTTGCGTGTTTTTCTGGATGGCGTCAAAATGGCCTCTTGGATTAAAGTCAGGAAGCTTAATAAATAAAATATACTCTTCTTCCATCCTTCCCTTAAAAGTTATTCTTCTTCTCTGCATGTGGGCAAGAAACAGCCCTTATAGGGGAGCCTCCTGAATACTCTGTGGTCCTCTGATCCTTGCACACCAGCACCAAGCCAGCATGGCAGCCTGCTGCTCTCCTCAACTTTGCCATATCTGTCTTGGCACCATCCGTAAG... | benign | 119,919 |
Clinical classification of chromosome 7, position 74028252, gene ELN (elastin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Supravalvar_aortic_stenosis'] | CAAGACAATTCTCCCAGCATGCCCCTACCTTCCAAAATTCCAGAGCTGCTCCCTCCAAAGACCCAGGGAAAAGGAAGGGTTTGTCCAGGGTCCTGGGGTGGCCCCGTATAGACCAAAGCCTGATAGCTGTCCTAGAAGCAGAGTACTTGCAGAGCGAGTGACGGCAACTGTGGTATTGACACCAGTCCTAGCACCAGCTGAACACAGAGCATTTTTGATCTAGCAGAAATACAAGACCACGTTGTATTTGTCTTTGCAATAATCTCTTAGCTAGGAATACTGATCACCTGTAGACAGATAAGGAAACTGATGCTCTGTGG... | CAAGACAATTCTCCCAGCATGCCCCTACCTTCCAAAATTCCAGAGCTGCTCCCTCCAAAGACCCAGGGAAAAGGAAGGGTTTGTCCAGGGTCCTGGGGTGGCCCCGTATAGACCAAAGCCTGATAGCTGTCCTAGAAGCAGAGTACTTGCAGAGCGAGTGACGGCAACTGTGGTATTGACACCAGTCCTAGCACCAGCTGAACACAGAGCATTTTTGATCTAGCAGAAATACAAGACCACGTTGTATTTGTCTTTGCAATAATCTCTTAGCTAGGAATACTGATCACCTGTAGACAGATAAGGAAACTGATGCTCTGTGG... | pathogenic | 119,985 |
A genetic variant at chromosome 7, position 74037708, affecting gene ELN (elastin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cutis_laxa,_autosomal_dominant_1', 'Supravalvar_aortic_stenosis', 'Williams_syndrome'] | AGGAGTTTCAGACCAGCCTGGACAACATAGTGAGATCCCCCTCTCTACACACACACACACACACAAATTTAAAATTAGCCATGTTCTGCATTGAGAAAAATGAAAATGAAGTATAGAAATTAAAAAAAAATTAGCTGGGCATAGTGGTGCACGCCTGTAGTCCTAGCTACTGGGGAGGCTGAGGCAGGAGGATCACTTGAGCTTAGGAGTTCAAGGCTGCAGTGAGCTATAATAGCACCACTGCACTGAAGTCTGGGTGACAGAGTAAAACCCTGTCTCTAAAAAGAAAAGGGGAAAAAAAGAAAAGAAAAATCAAAAGT... | AGGAGTTTCAGACCAGCCTGGACAACATAGTGAGATCCCCCTCTCTACACACACACACACACACAAATTTAAAATTAGCCATGTTCTGCATTGAGAAAAATGAAAATGAAGTATAGAAATTAAAAAAAAATTAGCTGGGCATAGTGGTGCACGCCTGTAGTCCTAGCTACTGGGGAGGCTGAGGCAGGAGGATCACTTGAGCTTAGGAGTTCAAGGCTGCAGTGAGCTATAATAGCACCACTGCACTGAAGTCTGGGTGACAGAGTAAAACCCTGTCTCTAAAAAGAAAAGGGGAAAAAAAGAAAAGAAAAATCAAAAGT... | pathogenic | 119,994 |
Considering the genetic mutation at chromosome 7, position 74037710, impacting ELN (elastin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Supravalvar_aortic_stenosis'] | GAGTTTCAGACCAGCCTGGACAACATAGTGAGATCCCCCTCTCTACACACACACACACACACAAATTTAAAATTAGCCATGTTCTGCATTGAGAAAAATGAAAATGAAGTATAGAAATTAAAAAAAAATTAGCTGGGCATAGTGGTGCACGCCTGTAGTCCTAGCTACTGGGGAGGCTGAGGCAGGAGGATCACTTGAGCTTAGGAGTTCAAGGCTGCAGTGAGCTATAATAGCACCACTGCACTGAAGTCTGGGTGACAGAGTAAAACCCTGTCTCTAAAAAGAAAAGGGGAAAAAAAGAAAAGAAAAATCAAAAGTAA... | GAGTTTCAGACCAGCCTGGACAACATAGTGAGATCCCCCTCTCTACACACACACACACACACAAATTTAAAATTAGCCATGTTCTGCATTGAGAAAAATGAAAATGAAGTATAGAAATTAAAAAAAAATTAGCTGGGCATAGTGGTGCACGCCTGTAGTCCTAGCTACTGGGGAGGCTGAGGCAGGAGGATCACTTGAGCTTAGGAGTTCAAGGCTGCAGTGAGCTATAATAGCACCACTGCACTGAAGTCTGGGTGACAGAGTAAAACCCTGTCTCTAAAAAGAAAAGGGGAAAAAAAGAAAAGAAAAATCAAAAGTAA... | pathogenic | 119,995 |
Is the variant located on chromosome 7 at position 74042674, gene ELN (elastin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Supravalvar_aortic_stenosis'] | TGGTCCTGGCCAAGGCAGTGGAATGTCTCCCGCAGTGGGAGACGAAGCGATTGGGCCCAGATGTGGGGAGGAGAGAGCCAGAGGGACCCATTTGGCGTCTCATAAACATCTTAGTAGGAGGCTCCTGGGCTGCAGGGCAGGCTGGATGGAAGGACAGATGGGTAGTGGGGACACAGGAGTTCCCCGATGCAGGTGAAGGGGAGGGGACTGAGTCAAGAGATATCTGCAAGGAAGCAGAAGAGAGACCTCACTGGCCTGGGGTGAGGTCTCGCTCACGGACTCTGCTCTGTCCCAGCCCTTGCTGAAAGCCCTGCTGAATC... | TGGTCCTGGCCAAGGCAGTGGAATGTCTCCCGCAGTGGGAGACGAAGCGATTGGGCCCAGATGTGGGGAGGAGAGAGCCAGAGGGACCCATTTGGCGTCTCATAAACATCTTAGTAGGAGGCTCCTGGGCTGCAGGGCAGGCTGGATGGAAGGACAGATGGGTAGTGGGGACACAGGAGTTCCCCGATGCAGGTGAAGGGGAGGGGACTGAGTCAAGAGATATCTGCAAGGAAGCAGAAGAGAGACCTCACTGGCCTGGGGTGAGGTCTCGCTCACGGACTCTGCTCTGTCCCAGCCCTTGCTGAAAGCCCTGCTGAATC... | pathogenic | 120,006 |
Evaluate if the mutation on chromosome 7 at position 74051789 in ELN (elastin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Supravalvar_aortic_stenosis'] | TATCCATCCACTCATCCATCCATTCTTCCCTCTATCCGTCCACTCATCCATCCATTCCTCCATGCATCCATTCCTCCATGCATCCATCTATCCATCCATCCATTCATCCATCCACTCATCCATCCATCCATTTACCCATCCATCCACTCAATCCATCCATCCATCCATCCATACATCAATCCATACATCAATCCACCCATCCATCACTCCCTCCATCGATTCTTCCATCCATCCATCTGCCCATTCTTCCATGCATCCCTCCATCCATTCCTCCATGCACCCACCCATCCATTTCTCCATGCATGCATCCATCCTTCCAT... | TATCCATCCACTCATCCATCCATTCTTCCCTCTATCCGTCCACTCATCCATCCATTCCTCCATGCATCCATTCCTCCATGCATCCATCTATCCATCCATCCATTCATCCATCCACTCATCCATCCATCCATTTACCCATCCATCCACTCAATCCATCCATCCATCCATCCATACATCAATCCATACATCAATCCACCCATCCATCACTCCCTCCATCGATTCTTCCATCCATCCATCTGCCCATTCTTCCATGCATCCCTCCATCCATTCCTCCATGCACCCACCCATCCATTTCTCCATGCATGCATCCATCCTTCCAT... | pathogenic | 120,036 |
Gene mutation in ELN (elastin) at chromosome 7, position 74051808—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Supravalvar_aortic_stenosis'] | CCATTCTTCCCTCTATCCGTCCACTCATCCATCCATTCCTCCATGCATCCATTCCTCCATGCATCCATCTATCCATCCATCCATTCATCCATCCACTCATCCATCCATCCATTTACCCATCCATCCACTCAATCCATCCATCCATCCATCCATACATCAATCCATACATCAATCCACCCATCCATCACTCCCTCCATCGATTCTTCCATCCATCCATCTGCCCATTCTTCCATGCATCCCTCCATCCATTCCTCCATGCACCCACCCATCCATTTCTCCATGCATGCATCCATCCTTCCATCCATTCATCCATCCATCCA... | CCATTCTTCCCTCTATCCGTCCACTCATCCATCCATTCCTCCATGCATCCATTCCTCCATGCATCCATCTATCCATCCATCCATTCATCCATCCACTCATCCATCCATCCATTTACCCATCCATCCACTCAATCCATCCATCCATCCATCCATACATCAATCCATACATCAATCCACCCATCCATCACTCCCTCCATCGATTCTTCCATCCATCCATCTGCCCATTCTTCCATGCATCCCTCCATCCATTCCTCCATGCACCCACCCATCCATTTCTCCATGCATGCATCCATCCTTCCATCCATTCATCCATCCATCCA... | pathogenic | 120,037 |
Clinical significance of chromosome 7, position 74053250, gene ELN (elastin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Supravalvar_aortic_stenosis'] | CCACCAGCCCGAGAGAGCGAGAATGTGGGGAGAAGCCTGAAGCTGGGCCTCCCAGTGGAGGCCCCGCAGGCCCCCCTCCCAGCACCCGAGGCTCCTTGGCCCCAGCGGCTGGTGGGGACGGCTGCAATGTGGGAGCGGGAGAGCAGGGCTGTGAGGGGCTGCCAGAGCCAAGCAGCCAGGCGCTTGGATTACAAACTTGGCTGCATCTTCGGAACACAGGGAGAGGAAGTCTTGAACATTCCTGCAGGGGACCCTCTGGCCCAGGGAGCGGCCACTTGTGGTTTCTCAGTATGTGGCAGTGATTAGAATGGGATTTGTCT... | CCACCAGCCCGAGAGAGCGAGAATGTGGGGAGAAGCCTGAAGCTGGGCCTCCCAGTGGAGGCCCCGCAGGCCCCCCTCCCAGCACCCGAGGCTCCTTGGCCCCAGCGGCTGGTGGGGACGGCTGCAATGTGGGAGCGGGAGAGCAGGGCTGTGAGGGGCTGCCAGAGCCAAGCAGCCAGGCGCTTGGATTACAAACTTGGCTGCATCTTCGGAACACAGGGAGAGGAAGTCTTGAACATTCCTGCAGGGGACCCTCTGGCCCAGGGAGCGGCCACTTGTGGTTTCTCAGTATGTGGCAGTGATTAGAATGGGATTTGTCT... | pathogenic | 120,043 |
Regarding the variant at chromosome 7 and position 74053320, affecting gene ELN (elastin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CCCCCCTCCCAGCACCCGAGGCTCCTTGGCCCCAGCGGCTGGTGGGGACGGCTGCAATGTGGGAGCGGGAGAGCAGGGCTGTGAGGGGCTGCCAGAGCCAAGCAGCCAGGCGCTTGGATTACAAACTTGGCTGCATCTTCGGAACACAGGGAGAGGAAGTCTTGAACATTCCTGCAGGGGACCCTCTGGCCCAGGGAGCGGCCACTTGTGGTTTCTCAGTATGTGGCAGTGATTAGAATGGGATTTGTCTGAAAACATACAAGTCCCTTAATGAGTGTGTTGAAATGGACACTTTGGGGGAGAGTCAAGGAACAGTGGAG... | CCCCCCTCCCAGCACCCGAGGCTCCTTGGCCCCAGCGGCTGGTGGGGACGGCTGCAATGTGGGAGCGGGAGAGCAGGGCTGTGAGGGGCTGCCAGAGCCAAGCAGCCAGGCGCTTGGATTACAAACTTGGCTGCATCTTCGGAACACAGGGAGAGGAAGTCTTGAACATTCCTGCAGGGGACCCTCTGGCCCAGGGAGCGGCCACTTGTGGTTTCTCAGTATGTGGCAGTGATTAGAATGGGATTTGTCTGAAAACATACAAGTCCCTTAATGAGTGTGTTGAAATGGACACTTTGGGGGAGAGTCAAGGAACAGTGGAG... | benign | 120,044 |
Is the genetic mutation found on chromosome 7 at position 74053320, within the gene ELN (elastin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCCCCCTCCCAGCACCCGAGGCTCCTTGGCCCCAGCGGCTGGTGGGGACGGCTGCAATGTGGGAGCGGGAGAGCAGGGCTGTGAGGGGCTGCCAGAGCCAAGCAGCCAGGCGCTTGGATTACAAACTTGGCTGCATCTTCGGAACACAGGGAGAGGAAGTCTTGAACATTCCTGCAGGGGACCCTCTGGCCCAGGGAGCGGCCACTTGTGGTTTCTCAGTATGTGGCAGTGATTAGAATGGGATTTGTCTGAAAACATACAAGTCCCTTAATGAGTGTGTTGAAATGGACACTTTGGGGGAGAGTCAAGGAACAGTGGAG... | CCCCCCTCCCAGCACCCGAGGCTCCTTGGCCCCAGCGGCTGGTGGGGACGGCTGCAATGTGGGAGCGGGAGAGCAGGGCTGTGAGGGGCTGCCAGAGCCAAGCAGCCAGGCGCTTGGATTACAAACTTGGCTGCATCTTCGGAACACAGGGAGAGGAAGTCTTGAACATTCCTGCAGGGGACCCTCTGGCCCAGGGAGCGGCCACTTGTGGTTTCTCAGTATGTGGCAGTGATTAGAATGGGATTTGTCTGAAAACATACAAGTCCCTTAATGAGTGTGTTGAAATGGACACTTTGGGGGAGAGTCAAGGAACAGTGGAG... | benign | 120,045 |
Regarding the variant at chromosome 7 and position 74054718, affecting gene ELN (elastin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Supravalvar_aortic_stenosis'] | GAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAATGAAGGAAGGGAGGGAGGGAGAGAGAGAGGCAGGAAGGAAAGAAAGGAAGAAACAAAAGAGAGAAAGAGAAAGAAAGAAAGGGAAAGGAAGGAAGGAAGGAAAAAGAAAAGAGGGAGGGAGGGAGAGAGAGAGAGGGAGGGAGAGAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGGAAGGAAAGAAAAGAAAAGAAAAAGAAAGAGATCACATTCCTCCAGCTCACTGATTCAAATCCTAGAGCTCTTTAGGG... | GAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAATGAAGGAAGGGAGGGAGGGAGAGAGAGAGGCAGGAAGGAAAGAAAGGAAGAAACAAAAGAGAGAAAGAGAAAGAAAGAAAGGGAAAGGAAGGAAGGAAGGAAAAAGAAAAGAGGGAGGGAGGGAGAGAGAGAGAGGGAGGGAGAGAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGGAAGGAAAGAAAAGAAAAGAAAAAGAAAGAGATCACATTCCTCCAGCTCACTGATTCAAATCCTAGAGCTCTTTAGGG... | pathogenic | 120,047 |
Gene ELN (elastin) variant at chromosome position 74056383 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGTGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGTGCTTGAACCGGGGAGGCGGAGATTGCAGTGAGCTGAGATCGCGCTATTGCACTCCAGCCTGGGTGACAAGATTGAGACTCCATCTCAAAAAAAAAAAAAAAGACAAATGGACAGGTATAGAGGTGGGTCATTAGGTAGATGGATGATGGGGGTGGCTGGGTATACAGATGGGCAGGTGGGTGGACATCAGTGCATAAATGGATGTGTAGCCAACTCTATGTTGGCATGAAAGGAGATGGCCCAACACACAGATGGGTAGACAGAGGGATA... | TGGTGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGTGCTTGAACCGGGGAGGCGGAGATTGCAGTGAGCTGAGATCGCGCTATTGCACTCCAGCCTGGGTGACAAGATTGAGACTCCATCTCAAAAAAAAAAAAAAAGACAAATGGACAGGTATAGAGGTGGGTCATTAGGTAGATGGATGATGGGGGTGGCTGGGTATACAGATGGGCAGGTGGGTGGACATCAGTGCATAAATGGATGTGTAGCCAACTCTATGTTGGCATGAAAGGAGATGGCCCAACACACAGATGGGTAGACAGAGGGATA... | benign | 120,052 |
Gene ELN (elastin) variant at chromosome position 74057702 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTTTCAGTAGAGACAGGGTTTTGCCTTGTTGGCCAGGCTGGTCTCGAACTCCTGGACTCAAATGATCCACCTGCCTCGTGGATCCCAAAGTGCTGGGATTATGGGCATGAGCCACTGCACCCGGCCAAAAAAAAGAAATTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTGCAAGCTCCACCTTCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCATATAACTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAG... | ATTTTCAGTAGAGACAGGGTTTTGCCTTGTTGGCCAGGCTGGTCTCGAACTCCTGGACTCAAATGATCCACCTGCCTCGTGGATCCCAAAGTGCTGGGATTATGGGCATGAGCCACTGCACCCGGCCAAAAAAAAGAAATTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTGCAAGCTCCACCTTCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCATATAACTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAG... | benign | 120,070 |
Variant at chromosome 7, position 74059906, gene ELN: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCTCTAGGAGTGTGGGTGATGTTTCTGATTAGGGGAGCAGGGTGAGCAGTGTGAGCCTCCCTGTTCCTAAAGCCCCTGGTGCCTCCCAGGCTATTGGGGACCTGACCTCATGCTGAGCTCCAGCTCCCCTTGAGGGACTCCAGTTCTCCCCCTTCTCCTTCTCTTTCTCCTTCTCCTTCTTCTTCTTGTGCTCCTCTTCCTTCTTCTTCTTCTTCTTTCTTCTCCTCCTCCTCCTTCTCCTTCTCCCTCCTCCTCCTTCTCATTCTTCTTCTTCTCCTTCCTCTTCTTCTCCTCCTGCTTCTTTTCCTTCTCCTCCCTCT... | CCTCTAGGAGTGTGGGTGATGTTTCTGATTAGGGGAGCAGGGTGAGCAGTGTGAGCCTCCCTGTTCCTAAAGCCCCTGGTGCCTCCCAGGCTATTGGGGACCTGACCTCATGCTGAGCTCCAGCTCCCCTTGAGGGACTCCAGTTCTCCCCCTTCTCCTTCTCTTTCTCCTTCTCCTTCTTCTTCTTGTGCTCCTCTTCCTTCTTCTTCTTCTTCTTTCTTCTCCTCCTCCTCCTTCTCCTTCTCCCTCCTCCTCCTTCTCATTCTTCTTCTTCTCCTTCCTCTTCTTCTCCTCCTGCTTCTTTTCCTTCTCCTCCCTCT... | benign | 120,074 |
Is the chromosome 7, position 74060008 variant in ELN clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Supravalvar_aortic_stenosis'] | TGACCTCATGCTGAGCTCCAGCTCCCCTTGAGGGACTCCAGTTCTCCCCCTTCTCCTTCTCTTTCTCCTTCTCCTTCTTCTTCTTGTGCTCCTCTTCCTTCTTCTTCTTCTTCTTTCTTCTCCTCCTCCTCCTTCTCCTTCTCCCTCCTCCTCCTTCTCATTCTTCTTCTTCTCCTTCCTCTTCTTCTCCTCCTGCTTCTTTTCCTTCTCCTCCCTCTTCCTCCTCCTCCTGCTTCTCCTTTCTTCTCCTTCTTCTTCTTTCTTCTTCTTCTTCCTCTTTTTCTCCTTCTTTCTTCTTCTTTCTCCTTCTTCTTCTTCTT... | TGACCTCATGCTGAGCTCCAGCTCCCCTTGAGGGACTCCAGTTCTCCCCCTTCTCCTTCTCTTTCTCCTTCTCCTTCTTCTTCTTGTGCTCCTCTTCCTTCTTCTTCTTCTTCTTTCTTCTCCTCCTCCTCCTTCTCCTTCTCCCTCCTCCTCCTTCTCATTCTTCTTCTTCTCCTTCCTCTTCTTCTCCTCCTGCTTCTTTTCCTTCTCCTCCCTCTTCCTCCTCCTCCTGCTTCTCCTTTCTTCTCCTTCTTCTTCTTTCTTCTTCTTCTTCCTCTTTTTCTCCTTCTTTCTTCTTCTTTCTCCTTCTTCTTCTTCTT... | pathogenic | 120,078 |
Regarding the variant at chromosome 7 and position 74060485, affecting gene ELN: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Supravalvar_aortic_stenosis'] | CTCAACCTCCCAGTCTCAAGCAGTCTGCCTGCTTCCGCCCCCCAAGAGCTGAGACCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTAATTTTTTTGTAGCGACAGCGGTCTCACTATGTTGCTCAGGCTGGTCTCAAACTCCTAGGCTAAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTGCAGTACTTCTTGTTCCCCATCTCTTGCTACATTTGAGGGCCACCCTGGCAGCCCCAGGTGCCCACACTTTTCTGAACATGGCAAATCGTGGCAGCACCA... | CTCAACCTCCCAGTCTCAAGCAGTCTGCCTGCTTCCGCCCCCCAAGAGCTGAGACCACAGGTGCCCACCACCATGCCTGGCTAATTTTTTAATTTTTTTGTAGCGACAGCGGTCTCACTATGTTGCTCAGGCTGGTCTCAAACTCCTAGGCTAAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTGCAGTACTTCTTGTTCCCCATCTCTTGCTACATTTGAGGGCCACCCTGGCAGCCCCAGGTGCCCACACTTTTCTGAACATGGCAAATCGTGGCAGCACCA... | pathogenic | 120,086 |
Clinically, how would you classify the variant at chromosome 7, position 74063640, gene ELN (elastin): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGACGACAGAGCGAGACTGTATCTCAAAAAAAGAAAAGAAAAGAAAAAGAAAAAGGCAGTTTCTAGGACACGTTTATGACAGTTTAAAAACCTGGCCCCTGCCCACTAAATGCTTATGGTGCCTTCAACCCCTGTGACCACCAAAAACACCCTTGAAATCCCAGTTGCCCCCCAGGAGGCAATTCCACCATCCCTAAGCTTGCCCTGACCCTGACAGTTACATGGTCCCTGTGTCCAGGAAGGGACTGGGCCTGCTGTGGGTATGAGGAGTCTGGGCAGTCTCTG... | CAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGACGACAGAGCGAGACTGTATCTCAAAAAAAGAAAAGAAAAGAAAAAGAAAAAGGCAGTTTCTAGGACACGTTTATGACAGTTTAAAAACCTGGCCCCTGCCCACTAAATGCTTATGGTGCCTTCAACCCCTGTGACCACCAAAAACACCCTTGAAATCCCAGTTGCCCCCCAGGAGGCAATTCCACCATCCCTAAGCTTGCCCTGACCCTGACAGTTACATGGTCCCTGTGTCCAGGAAGGGACTGGGCCTGCTGTGGGTATGAGGAGTCTGGGCAGTCTCTG... | benign | 120,106 |
Determine whether the variant at chromosome 7, position 74065968, in gene ELN (elastin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cutis_laxa,_autosomal_dominant_1', 'ELN-related_disorder', 'Supravalvar_aortic_stenosis'] | TGGCGAAACCTCATCTCTACCAAAAATACAAAAATAAGCCGGGCGTGGTGGTGGGCACCTGTATTTCCAGCTACTTGAGAGGCTGAGGCCAGAGGATCGCTTGAGCCCAGGAGGCAGAGGCTGCAGTGAGCTGAGATGGTACCACTGCATTCCAGCTTGGGCAGCAGAGTGAGACCCTGTCATCTAAAAAAAAAAAAGAAAGAAAGAAAAGAAAAGAGGCCAGGCATGGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGATCAAGACCATCCTGGCTAACACAGTGAAAC... | TGGCGAAACCTCATCTCTACCAAAAATACAAAAATAAGCCGGGCGTGGTGGTGGGCACCTGTATTTCCAGCTACTTGAGAGGCTGAGGCCAGAGGATCGCTTGAGCCCAGGAGGCAGAGGCTGCAGTGAGCTGAGATGGTACCACTGCATTCCAGCTTGGGCAGCAGAGTGAGACCCTGTCATCTAAAAAAAAAAAAGAAAGAAAGAAAAGAAAAGAGGCCAGGCATGGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGATCAAGACCATCCTGGCTAACACAGTGAAAC... | pathogenic | 120,112 |
For chromosome 7, position 74068673, gene ELN (elastin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cutis_laxa,_autosomal_dominant_1', 'Supravalvar_aortic_stenosis'] | GGTGATCCCAGACAGAGGTCTTGGGTGAGCCAGTGCAGGCAGAAAGTGATGAGGCTGGAGTCAGTTTCCACCCCTACCAACCCACCAACCTGAAATCTCTCCTGCAGGAGTGGCAGCAAGACCTGGCTTCGGATTGTCTCCCATTTTCCCAGGTATGCCAGGCTCCCTGCCCCTGGGCCCTGCCCTGGAGCTGCAGCCACCTCCTCCCTCCTCTCCTGTGCCATCTCCTGCTCAGAAGGGCTGAGCCAGCACCCAGGGGTGGACCCCACAGCCTCAGGTCACACGAGGCTGGACCCCGAGCTGAATGTAGAGCCTCCCCT... | GGTGATCCCAGACAGAGGTCTTGGGTGAGCCAGTGCAGGCAGAAAGTGATGAGGCTGGAGTCAGTTTCCACCCCTACCAACCCACCAACCTGAAATCTCTCCTGCAGGAGTGGCAGCAAGACCTGGCTTCGGATTGTCTCCCATTTTCCCAGGTATGCCAGGCTCCCTGCCCCTGGGCCCTGCCCTGGAGCTGCAGCCACCTCCTCCCTCCTCTCCTGTGCCATCTCCTGCTCAGAAGGGCTGAGCCAGCACCCAGGGGTGGACCCCACAGCCTCAGGTCACACGAGGCTGGACCCCGAGCTGAATGTAGAGCCTCCCCT... | pathogenic | 120,121 |
Is the genetic variant on chromosome 7, position 74777266, gene NCF1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Granulomatous_disease,_chronic,_X-linked', 'Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_1'] | TCCAGGCTAATCTTGAACTCCTCGGCTTAAGCAACCCTCTGGTCTCAGCCTCCCACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTT... | TCCAGGCTAATCTTGAACTCCTCGGCTTAAGCAACCCTCTGGTCTCAGCCTCCCACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTT... | pathogenic | 120,164 |
Is the genetic variant on chromosome 7, position 74779311, gene NCF1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_1'] | CCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGATGGAGGAGGGACAGGGACCCACCGTTCCAGCTCCACCCTTTGGGAAGGACCTTAGCCCAGGTGATGGGGAAACTGCAGAACCCAGAATCCCCTCCCAGACCACAGTTAAAGGGGATTTATTTATTTATATAAATTTTTGTGACAGGGTCTTGCTCTGTCACCACTCTGAACACCTCATGTTCTCTGATTACAGGCATGAGCCCCCACGCTCGGCCTTTTAGG... | CCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGATGGAGGAGGGACAGGGACCCACCGTTCCAGCTCCACCCTTTGGGAAGGACCTTAGCCCAGGTGATGGGGAAACTGCAGAACCCAGAATCCCCTCCCAGACCACAGTTAAAGGGGATTTATTTATTTATATAAATTTTTGTGACAGGGTCTTGCTCTGTCACCACTCTGAACACCTCATGTTCTCTGATTACAGGCATGAGCCCCCACGCTCGGCCTTTTAGG... | pathogenic | 120,168 |
Does the variant on chromosome 7 at location 75954114 affecting gene POR (cytochrome p450 oxidoreductase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis', 'Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency'] | ATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAAAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC... | ATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAAAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC... | pathogenic | 120,184 |
Gene POR (cytochrome p450 oxidoreductase) variant at chromosome position 75981033 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGAGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCACGCCCGGCTGCATCCTTGGATGTAAGTATCTATGGGAGGTCCTGGAACCATTCCCCCACGGATAGGGGCTATACATTTGGTTACTTTTTTTAACTTTGTTTTTTCCCCGTGTCATGAAAATGTCAGAAGTGTGATCTTGAGCAGCCGCGTGTGTGAGATTGCCTTGGTGACCTTTGCCCTCCTTTGCCACAGTGGCTGTGACAGTGAGAAGCAAGTC... | TGGAGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCACGCCCGGCTGCATCCTTGGATGTAAGTATCTATGGGAGGTCCTGGAACCATTCCCCCACGGATAGGGGCTATACATTTGGTTACTTTTTTTAACTTTGTTTTTTCCCCGTGTCATGAAAATGTCAGAAGTGTGATCTTGAGCAGCCGCGTGTGTGAGATTGCCTTGGTGACCTTTGCCCTCCTTTGCCACAGTGGCTGTGACAGTGAGAAGCAAGTC... | benign | 120,195 |
Regarding the variant found on chromosome 7 at position 75982267 in gene POR (cytochrome p450 oxidoreductase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis', 'Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency'] | CTCAGACATCCCTGGCCTGGTGCCACCCTGGGCAGGACCTGGCCTTCCCCATCTGGTGCGGGTTGAACCTTGAACAGGCTCAGTCATGGCCGGGGCGCGGTCCTGTCCCTGTTTCTGCAGGCCGACCTGAGCAGCCTGCCAGAGATCGACAACGCCCTGGTGGTTTTCTGCATGGCCACCTACGGTGAGGGAGACCCCACCGACAATGCCCAGGACTTCTACGACTGGCTGCAGGAGACAGACGTGGATCTCTCTGGGGTCAAGTTCGCGGTGAGTCACCCAGAGACTGCTATGGGCTCCCGGTGGCCTGCGGTGCCTCC... | CTCAGACATCCCTGGCCTGGTGCCACCCTGGGCAGGACCTGGCCTTCCCCATCTGGTGCGGGTTGAACCTTGAACAGGCTCAGTCATGGCCGGGGCGCGGTCCTGTCCCTGTTTCTGCAGGCCGACCTGAGCAGCCTGCCAGAGATCGACAACGCCCTGGTGGTTTTCTGCATGGCCACCTACGGTGAGGGAGACCCCACCGACAATGCCCAGGACTTCTACGACTGGCTGCAGGAGACAGACGTGGATCTCTCTGGGGTCAAGTTCGCGGTGAGTCACCCAGAGACTGCTATGGGCTCCCGGTGGCCTGCGGTGCCTCC... | pathogenic | 120,208 |
Is the genetic mutation found on chromosome 7 at position 75983504, within the gene POR, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAGGTACCGTTGCCACATGGGCCTCCCCTGAGCCGCTCCCCCTCTCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCT... | CAGGTACCGTTGCCACATGGGCCTCCCCTGAGCCGCTCCCCCTCTCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCT... | benign | 120,214 |
Clinical classification of chromosome 7, position 75984961, gene POR (cytochrome p450 oxidoreductase): benign or pathogenic? Disease(s) if pathogenic? | benign | GGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCT... | GGGGACCAGCCACCTTCCAGCCTGTGGCACCGTCAGCTTGGGCCTCACAGTTCTTTTAGGGGCCAGCCTCAGTTTCCACATCTGTAAACAGACACTGATGACCCAGCTCTGCCCATGTGGTGGGACTATAGAGAGAACTGCATTAGGGCTGGGCGAGGTGGCTCACAGCTCTAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCT... | benign | 120,222 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 75985132, gene POR (cytochrome p450 oxidoreductase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis', 'Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency'] | TAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGAT... | TAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGAT... | pathogenic | 120,226 |
Gene POR (cytochrome p450 oxidoreductase) variant at chromosome 7, position 75985171—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis', 'Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency'] | CTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGC... | CTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAGTAAAAATATAAAAGTTAACCAGGCATGGTGGCGAATGCCTGTAATTCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGTGGCAGAGCGAAACTCTGTCTCAAAAAAAAAAAAGAGAACTGCATTGGACCAGGCTGGGAGAGCCCTTGATGTAACCGGTGAGATTTCCTCATGGAGATCTCTGAGATTCCCTGTGCTTTGTGC... | pathogenic | 120,227 |
Assess the variant on chromosome 7, position 75985937, impacting POR (cytochrome p450 oxidoreductase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_adrenal_hyperplasia', 'Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency'] | TCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCC... | TCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCC... | pathogenic | 120,244 |
Is chromosome 7, position 76054918, gene MDH2 (malate dehydrogenase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_51', 'Inborn_genetic_diseases'] | TCTTGCTCTGTTTCCCAGGCTGGAATGCAATGGCGCCATCATGGCTCACGGCAGCCTCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGTGCATACCACCATGCCAGCCTGAGCACGAGAGTGAAATGATTAAGACTTTGATTTTGGGAAAGCATGCTTTGGAGGTGTTGCTGAGTACCTAAGTTAGATAACGGAATAGAATGAAGAGGAGGAGCGGGTTGGGAGGGTGGTTGAGCTGCCAAGTTCTTCATGTCCTGACTTGATGTCTCTGATAAGAAGGAGGTGGCAGAAGA... | TCTTGCTCTGTTTCCCAGGCTGGAATGCAATGGCGCCATCATGGCTCACGGCAGCCTCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGTGCATACCACCATGCCAGCCTGAGCACGAGAGTGAAATGATTAAGACTTTGATTTTGGGAAAGCATGCTTTGGAGGTGTTGCTGAGTACCTAAGTTAGATAACGGAATAGAATGAAGAGGAGGAGCGGGTTGGGAGGGTGGTTGAGCTGCCAAGTTCTTCATGTCCTGACTTGATGTCTCTGATAAGAAGGAGGTGGCAGAAGA... | pathogenic | 120,276 |
Evaluate if the mutation on chromosome 7 at position 76302886 in HSPB1 (heat shock protein family B (small) member 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2F', 'HSPB1-related_disorder', 'Neuronopathy,_distal_hereditary_motor,_type_2B'] | GGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGT... | GGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGT... | pathogenic | 120,382 |
Is the variant located on chromosome 7 at position 76303791, gene HSPB1 (heat shock protein family B (small) member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCC... | AAACTCCTGACCTCTGGTGATCCTCCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCC... | benign | 120,395 |
Variant at chromosome position 76304030, chromosome 7, gene HSPB1 (heat shock protein family B (small) member 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2F'] | CTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCC... | CTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCC... | pathogenic | 120,412 |
A mutation at chromosome position 76304062 on chromosome 7 in gene HSPB1 (heat shock protein family B (small) member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2F', 'Neuronopathy,_distal_hereditary_motor,_type_2B'] | CTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGC... | CTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGC... | pathogenic | 120,415 |
Chromosome 7, position 76304065, gene HSPB1 (heat shock protein family B (small) member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2F', 'likely other unspecified diseases'] | ATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCC... | ATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCC... | pathogenic | 120,416 |
Gene ZP3 (zona pellucida glycoprotein 3) variant at chromosome 7, position 76440343—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGCCAATAATCCCAGCACTTTGTGAGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACAAGCCTGGCCAACATGGGGAAACCCCATCTCTACTACAAATACAAAAACTAGCCTGGTGTGGTGGTGGGTACCCGTAATCCCATCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCTCGGAGGTAGTGGCTACAGTGTACTCCAGCCTGGACTAGAGACAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAGGGTAGCGGGGCAGTGCTTACAGGGTAGTTGACTATTCCCTGGGTGGTGGGGGGTCT... | TGCCAATAATCCCAGCACTTTGTGAGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACAAGCCTGGCCAACATGGGGAAACCCCATCTCTACTACAAATACAAAAACTAGCCTGGTGTGGTGGTGGGTACCCGTAATCCCATCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCTCGGAGGTAGTGGCTACAGTGTACTCCAGCCTGGACTAGAGACAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAGGGTAGCGGGGCAGTGCTTACAGGGTAGTTGACTATTCCCTGGGTGGTGGGGGGTCT... | benign | 120,447 |
Does the variant impacting MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2) on chromosome 7, position 78489904, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CATATGAAGAATCATGACTTAACTGGCAAGTTCAATAGCAATCCATTAACATCCAGTGTTGTAAATAAGTAATACTAATCTATGTCATTTAAAGAAAAGTAAAACACAGGTAACAATATTACCTAAAAGCACTTTTCTTGGCAAGAAAACTTAAAATAGGTGTCCAGAATAATAACATTCTAACAAACTAGATGTTAGTTTCCACTGTAAAAACGGTCCGATAATATAAAGAATAGAGTCTAGGAATTATTTATTTTGTAGTGAATGAAAACAAATAGCAGTTGACCAAGTTACAAATCATCCTGATCTATAAACTGAAT... | CATATGAAGAATCATGACTTAACTGGCAAGTTCAATAGCAATCCATTAACATCCAGTGTTGTAAATAAGTAATACTAATCTATGTCATTTAAAGAAAAGTAAAACACAGGTAACAATATTACCTAAAAGCACTTTTCTTGGCAAGAAAACTTAAAATAGGTGTCCAGAATAATAACATTCTAACAAACTAGATGTTAGTTTCCACTGTAAAAACGGTCCGATAATATAAAGAATAGAGTCTAGGAATTATTTATTTTGTAGTGAATGAAAACAAATAGCAGTTGACCAAGTTACAAATCATCCTGATCTATAAACTGAAT... | benign | 120,492 |
Variant in gene MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2), located at chromosome 7 position 78489904: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CATATGAAGAATCATGACTTAACTGGCAAGTTCAATAGCAATCCATTAACATCCAGTGTTGTAAATAAGTAATACTAATCTATGTCATTTAAAGAAAAGTAAAACACAGGTAACAATATTACCTAAAAGCACTTTTCTTGGCAAGAAAACTTAAAATAGGTGTCCAGAATAATAACATTCTAACAAACTAGATGTTAGTTTCCACTGTAAAAACGGTCCGATAATATAAAGAATAGAGTCTAGGAATTATTTATTTTGTAGTGAATGAAAACAAATAGCAGTTGACCAAGTTACAAATCATCCTGATCTATAAACTGAAT... | CATATGAAGAATCATGACTTAACTGGCAAGTTCAATAGCAATCCATTAACATCCAGTGTTGTAAATAAGTAATACTAATCTATGTCATTTAAAGAAAAGTAAAACACAGGTAACAATATTACCTAAAAGCACTTTTCTTGGCAAGAAAACTTAAAATAGGTGTCCAGAATAATAACATTCTAACAAACTAGATGTTAGTTTCCACTGTAAAAACGGTCCGATAATATAAAGAATAGAGTCTAGGAATTATTTATTTTGTAGTGAATGAAAACAAATAGCAGTTGACCAAGTTACAAATCATCCTGATCTATAAACTGAAT... | benign | 120,493 |
Regarding the variant found on chromosome 7 at position 80661109 in gene CD36 (CD36 molecule (CD36 blood group)): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Coronary_heart_disease,_susceptibility_to,_7', 'Malaria,_susceptibility_to', 'Platelet-type_bleeding_disorder_10'] | GATTATCTGTAGGTCATCTTGTCTCAGCATGTCACCAAAATAGTCTTTTATTGTTTGCCTGAGTGCCTTAAATAATGGAAAAACAACCAGTACCTTTTAGAAAAAAAATTAACACTTTGATAGTGCATGTGTTGAGCTAAACATGCTTTTTCATAACTAATTATACCCTAAATCCATCTGACATTGGAAGTATGTGAGAATGTCCCTCCTCAAACAGAACCACAGGCTGTATTTGGCCATTGTCTGCTAAAGTAAGCTTGATTACACTTTGACAAGATATGACCTGAATCAAAGCACGAAATTGCTTGGGTTGAGATCTT... | GATTATCTGTAGGTCATCTTGTCTCAGCATGTCACCAAAATAGTCTTTTATTGTTTGCCTGAGTGCCTTAAATAATGGAAAAACAACCAGTACCTTTTAGAAAAAAAATTAACACTTTGATAGTGCATGTGTTGAGCTAAACATGCTTTTTCATAACTAATTATACCCTAAATCCATCTGACATTGGAAGTATGTGAGAATGTCCCTCCTCAAACAGAACCACAGGCTGTATTTGGCCATTGTCTGCTAAAGTAAGCTTGATTACACTTTGACAAGATATGACCTGAATCAAAGCACGAAATTGCTTGGGTTGAGATCTT... | pathogenic | 120,521 |
A mutation at chromosome position 80664458 on chromosome 7 in gene CD36 (CD36 molecule (CD36 blood group)): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['CD36-related_disorder', 'Platelet-type_bleeding_disorder_10'] | TGAGACCTGTTGGAGCTTGTGGCCAGCATTTCATCCGCACCATTGGTCAGGTCACTGGCAGAGAGCCTCGTGCCGTTAGACGTGGAACCTGCCGTTGTGATGAACACGCCTGCAACAATTGTCTGCGCCATTTCTGTCACGTGTGGCTCCAGCGCCTTTGGGACCAGACTTATGGCTTTTTTTTTTTTTAAGTTCTGGGATACATGTGCTGAATGTGCAGGATTGTTACATAGGTATACATGTGCCATGGTGCTTTGCTGCACCTATCAAACCATCATCTAGGTTTTAAGCCCCGTATGCCTTAATGCATTAGATATTTG... | TGAGACCTGTTGGAGCTTGTGGCCAGCATTTCATCCGCACCATTGGTCAGGTCACTGGCAGAGAGCCTCGTGCCGTTAGACGTGGAACCTGCCGTTGTGATGAACACGCCTGCAACAATTGTCTGCGCCATTTCTGTCACGTGTGGCTCCAGCGCCTTTGGGACCAGACTTATGGCTTTTTTTTTTTTTAAGTTCTGGGATACATGTGCTGAATGTGCAGGATTGTTACATAGGTATACATGTGCCATGGTGCTTTGCTGCACCTATCAAACCATCATCTAGGTTTTAAGCCCCGTATGCCTTAATGCATTAGATATTTG... | pathogenic | 120,523 |
Variant at chromosome 7, position 80671101, gene CD36 (CD36 molecule (CD36 blood group)): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Platelet-type_bleeding_disorder_10'] | CATTAGGACAAATGAGAAAAAAAATCACTACAAATAAATGTGGACATGGCAGGAGATCCAAATGAACTTCACTGGAAGAAAAGTGCCACTCTACTGGTGGGGTAGGGCATTTCAAAAAACAAACACAATGTTAGCCTTAACATTTCATGTTTAAGTTTCTTTTATTTTGTACCATTAAATATGTATAGTATGTAGATTTGTTGTTGACAATAGCAGCCGCCAGCCATATGTAACTGTTAAGGACTCAAAATCTGGCTAGTATGATTTGAAATGTGCTGTAAATATAAAATGCACAGTAGATTTTGAGACTTTAAGAATTT... | CATTAGGACAAATGAGAAAAAAAATCACTACAAATAAATGTGGACATGGCAGGAGATCCAAATGAACTTCACTGGAAGAAAAGTGCCACTCTACTGGTGGGGTAGGGCATTTCAAAAAACAAACACAATGTTAGCCTTAACATTTCATGTTTAAGTTTCTTTTATTTTGTACCATTAAATATGTATAGTATGTAGATTTGTTGTTGACAATAGCAGCCGCCAGCCATATGTAACTGTTAAGGACTCAAAATCTGGCTAGTATGATTTGAAATGTGCTGTAAATATAAAATGCACAGTAGATTTTGAGACTTTAAGAATTT... | pathogenic | 120,528 |
Evaluate the clinical significance of the mutation at chromosome 7, position 80672793 in gene CD36 (CD36 molecule (CD36 blood group)): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Platelet-type_bleeding_disorder_10'] | AGAAGTAACTTGAGTATAAATAAACATGGTACTTCACAAACAAGAATAGTTCATGCTTGGCTATTGAGTTTTAGTATGTGTTAAAATTTCCCAATCACTTTTTTTCTAAGAATGAAACAAGAATTTAAAAGAGTATATGATGTTTCTAAGTTAAAACAAGAATAAGAAAAAATGAATCTCCAGAATGTAAGTTCAGGTTCCTGGAATGCAGCTCTTTTTTCTCTGTATTTAGGTCAATCTATGCTGTATTTGAATCCGACGTTAATCTGAAAGGAATCCCTGTGTATAGATTTGTTCTTCCATCCAAGGCCTTTGCCTCT... | AGAAGTAACTTGAGTATAAATAAACATGGTACTTCACAAACAAGAATAGTTCATGCTTGGCTATTGAGTTTTAGTATGTGTTAAAATTTCCCAATCACTTTTTTTCTAAGAATGAAACAAGAATTTAAAAGAGTATATGATGTTTCTAAGTTAAAACAAGAATAAGAAAAAATGAATCTCCAGAATGTAAGTTCAGGTTCCTGGAATGCAGCTCTTTTTTCTCTGTATTTAGGTCAATCTATGCTGTATTTGAATCCGACGTTAATCTGAAAGGAATCCCTGTGTATAGATTTGTTCTTCCATCCAAGGCCTTTGCCTCT... | pathogenic | 120,531 |
Regarding the variant found on chromosome 7 at position 80672833 in gene CD36 (CD36 molecule (CD36 blood group)): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['CD36-related_disorder', 'Platelet-type_bleeding_disorder_10'] | CAAGAATAGTTCATGCTTGGCTATTGAGTTTTAGTATGTGTTAAAATTTCCCAATCACTTTTTTTCTAAGAATGAAACAAGAATTTAAAAGAGTATATGATGTTTCTAAGTTAAAACAAGAATAAGAAAAAATGAATCTCCAGAATGTAAGTTCAGGTTCCTGGAATGCAGCTCTTTTTTCTCTGTATTTAGGTCAATCTATGCTGTATTTGAATCCGACGTTAATCTGAAAGGAATCCCTGTGTATAGATTTGTTCTTCCATCCAAGGCCTTTGCCTCTCCAGTTGAAAACCCAGACAACTATTGTTTCTGCACAGAAA... | CAAGAATAGTTCATGCTTGGCTATTGAGTTTTAGTATGTGTTAAAATTTCCCAATCACTTTTTTTCTAAGAATGAAACAAGAATTTAAAAGAGTATATGATGTTTCTAAGTTAAAACAAGAATAAGAAAAAATGAATCTCCAGAATGTAAGTTCAGGTTCCTGGAATGCAGCTCTTTTTTCTCTGTATTTAGGTCAATCTATGCTGTATTTGAATCCGACGTTAATCTGAAAGGAATCCCTGTGTATAGATTTGTTCTTCCATCCAAGGCCTTTGCCTCTCCAGTTGAAAACCCAGACAACTATTGTTTCTGCACAGAAA... | pathogenic | 120,533 |
Is the genetic change at chromosome 7, position 80673381, within gene CD36 (CD36 molecule (CD36 blood group)) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CD36-related_disorder', 'Platelet-type_bleeding_disorder_10'] | TTAAAGTAAGAAAGTAATTAGGGCAGAAGAAAGAATGGTGGCAGAAAATTTTAGTGCTGATTTTGTATTTTGGGAAGATCCCACTTGTGTTTCAGTATTACAAAATTTAGTTAAAACCACACCAGTATTTCCTTGTGGCTGCTTTTAGATTTAGGGTGAAATGAAAATAATTCCGAGAACACATTAAACATCCTGTTATTCATCTGTCCTAACTTTTTTCACTAGAAAATGGTACAGGTAAATGTATTTTCAGTATGTATCTAAAGCTAGAGTTAAACATAAAATTTGGAGACTAGCTTATCCTGTACATATTTATCATA... | TTAAAGTAAGAAAGTAATTAGGGCAGAAGAAAGAATGGTGGCAGAAAATTTTAGTGCTGATTTTGTATTTTGGGAAGATCCCACTTGTGTTTCAGTATTACAAAATTTAGTTAAAACCACACCAGTATTTCCTTGTGGCTGCTTTTAGATTTAGGGTGAAATGAAAATAATTCCGAGAACACATTAAACATCCTGTTATTCATCTGTCCTAACTTTTTTCACTAGAAAATGGTACAGGTAAATGTATTTTCAGTATGTATCTAAAGCTAGAGTTAAACATAAAATTTGGAGACTAGCTTATCCTGTACATATTTATCATA... | pathogenic | 120,536 |
A genetic variant on chromosome 7, position 80673392, affects the gene CD36 (CD36 molecule (CD36 blood group)). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Platelet-type_bleeding_disorder_10'] | AAGTAATTAGGGCAGAAGAAAGAATGGTGGCAGAAAATTTTAGTGCTGATTTTGTATTTTGGGAAGATCCCACTTGTGTTTCAGTATTACAAAATTTAGTTAAAACCACACCAGTATTTCCTTGTGGCTGCTTTTAGATTTAGGGTGAAATGAAAATAATTCCGAGAACACATTAAACATCCTGTTATTCATCTGTCCTAACTTTTTTCACTAGAAAATGGTACAGGTAAATGTATTTTCAGTATGTATCTAAAGCTAGAGTTAAACATAAAATTTGGAGACTAGCTTATCCTGTACATATTTATCATACTAACGTGGGT... | AAGTAATTAGGGCAGAAGAAAGAATGGTGGCAGAAAATTTTAGTGCTGATTTTGTATTTTGGGAAGATCCCACTTGTGTTTCAGTATTACAAAATTTAGTTAAAACCACACCAGTATTTCCTTGTGGCTGCTTTTAGATTTAGGGTGAAATGAAAATAATTCCGAGAACACATTAAACATCCTGTTATTCATCTGTCCTAACTTTTTTCACTAGAAAATGGTACAGGTAAATGTATTTTCAGTATGTATCTAAAGCTAGAGTTAAACATAAAATTTGGAGACTAGCTTATCCTGTACATATTTATCATACTAACGTGGGT... | pathogenic | 120,537 |
Considering the variant on chromosome 7, location 81729800, involving gene HGF (hepatocyte growth factor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTGGATTGTTCATTTAGACAAGCTAATTAAGTGAAGATCGAGGGCTATCAAAGTCTTAGTTTGGACTGACTTTAACATCTGTATTAGAAGCACCTCAATCAATAATCTAGATTAAGCAAGAATGAAAGTCAAGATTTGCCCAGATATTTTTACTAGGTCCTTACTTTTCACTTGAAGAAAGGATGGTTTACAATTACTAAAGTAAATTGATGATTTTATGATTCATGTCGATTCATCACAGGCAGTGTTGTTCAGTTACAGTGTTCCAAAGATTGCCATTTTTAAGGTCTCAGTACTGGGGCAAGTGGGCAAGTAATATT... | CTGGATTGTTCATTTAGACAAGCTAATTAAGTGAAGATCGAGGGCTATCAAAGTCTTAGTTTGGACTGACTTTAACATCTGTATTAGAAGCACCTCAATCAATAATCTAGATTAAGCAAGAATGAAAGTCAAGATTTGCCCAGATATTTTTACTAGGTCCTTACTTTTCACTTGAAGAAAGGATGGTTTACAATTACTAAAGTAAATTGATGATTTTATGATTCATGTCGATTCATCACAGGCAGTGTTGTTCAGTTACAGTGTTCCAAAGATTGCCATTTTTAAGGTCTCAGTACTGGGGCAAGTGGGCAAGTAATATT... | benign | 120,563 |
Clinical classification of chromosome 7, position 81950516, gene CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1): benign or pathogenic? Disease(s) if pathogenic? | benign | AAAAAATCTTGAAATGTACACAAATGGTACCTAAGGTATATTGGTGGTGGGAGGGAATTACAAATGTATGCAAAGCTAAAAACAAAACAAATGTTATCTTTTAAGCTACGTTAAATTATTGGTTATATCTTTGATATGTGGAGCATATTAAAGCATGCTGGATAATGTTAATAACTTTGACTTAAAAAGGATATGTAAGAAAATTTCCAGCATATACACATACCAGTAATTGGCATGTTCCAAAAAAAGAAAAACTGCATTTTATCATAAAAAATATCTACATACGTTCAGCCTTCAGTAAAATTATTAACTATTCTTAG... | AAAAAATCTTGAAATGTACACAAATGGTACCTAAGGTATATTGGTGGTGGGAGGGAATTACAAATGTATGCAAAGCTAAAAACAAAACAAATGTTATCTTTTAAGCTACGTTAAATTATTGGTTATATCTTTGATATGTGGAGCATATTAAAGCATGCTGGATAATGTTAATAACTTTGACTTAAAAAGGATATGTAAGAAAATTTCCAGCATATACACATACCAGTAATTGGCATGTTCCAAAAAAAGAAAAACTGCATTTTATCATAAAAAATATCTACATACGTTCAGCCTTCAGTAAAATTATTAACTATTCTTAG... | benign | 120,580 |
Determine whether the variant at chromosome 7, position 81950522, in gene CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TCTTGAAATGTACACAAATGGTACCTAAGGTATATTGGTGGTGGGAGGGAATTACAAATGTATGCAAAGCTAAAAACAAAACAAATGTTATCTTTTAAGCTACGTTAAATTATTGGTTATATCTTTGATATGTGGAGCATATTAAAGCATGCTGGATAATGTTAATAACTTTGACTTAAAAAGGATATGTAAGAAAATTTCCAGCATATACACATACCAGTAATTGGCATGTTCCAAAAAAAGAAAAACTGCATTTTATCATAAAAAATATCTACATACGTTCAGCCTTCAGTAAAATTATTAACTATTCTTAGAATTAC... | TCTTGAAATGTACACAAATGGTACCTAAGGTATATTGGTGGTGGGAGGGAATTACAAATGTATGCAAAGCTAAAAACAAAACAAATGTTATCTTTTAAGCTACGTTAAATTATTGGTTATATCTTTGATATGTGGAGCATATTAAAGCATGCTGGATAATGTTAATAACTTTGACTTAAAAAGGATATGTAAGAAAATTTCCAGCATATACACATACCAGTAATTGGCATGTTCCAAAAAAAGAAAAACTGCATTTTATCATAAAAAATATCTACATACGTTCAGCCTTCAGTAAAATTATTAACTATTCTTAGAATTAC... | benign | 120,581 |
Does the variant on chromosome 7 at location 81964198 affecting gene CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTTGTTTACTGCTGTGTAATATCGTGGCAGCCCGTAATAGATGCCTGATAAATATCAAGAGAATAAATGAATTCAAATACAAGATGGCTATGAGATCAGGCCCGTGTGACCTAGGTAATTTCTAAAACATTAGGAAAGGTTGGACAAAAAGTTTCTAGCTCTAAAATTATGAGATGGGTGACCTGTTTTCTCTTTCACACAAATATTCTCTGAATTTGTTGAACTTCAAGCACATCCCAAAAGAAAATTTTTATTGTTATGGCAATGACAAGGTCTGAGCATTTACATACCTGCCTCAAGGAGTCGTGGAAAGGTCAAAC... | CTTGTTTACTGCTGTGTAATATCGTGGCAGCCCGTAATAGATGCCTGATAAATATCAAGAGAATAAATGAATTCAAATACAAGATGGCTATGAGATCAGGCCCGTGTGACCTAGGTAATTTCTAAAACATTAGGAAAGGTTGGACAAAAAGTTTCTAGCTCTAAAATTATGAGATGGGTGACCTGTTTTCTCTTTCACACAAATATTCTCTGAATTTGTTGAACTTCAAGCACATCCCAAAAGAAAATTTTTATTGTTATGGCAATGACAAGGTCTGAGCATTTACATACCTGCCTCAAGGAGTCGTGGAAAGGTCAAAC... | benign | 120,601 |
Variant at chromosome position 81968975, chromosome 7, gene CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CATCATATTGACATGACCATTTTTTTACCTTCCAAGGATACATACATATTTTTAAAAATTCAAGCACTTTACATTCAAAATCAAAAGCATACAAATTCAAATGAATATATTATTTCACATTTCCATAGAATTTTTTAGCCTTTGATTAAAAAATTCCTGCATATTTTTTCATCACTATAGTCTTAGCAAGAGTAACACAAGGAAATATTGTACTCAAAAGTGATTTTAAATAGTTTTCTTACGTCACTGTTTCTTTTGCAGTCACAAACTGGACCAGCACACTGAAAGACAAAAATGCGATTATCACCTCACTTTTAAAA... | CATCATATTGACATGACCATTTTTTTACCTTCCAAGGATACATACATATTTTTAAAAATTCAAGCACTTTACATTCAAAATCAAAAGCATACAAATTCAAATGAATATATTATTTCACATTTCCATAGAATTTTTTAGCCTTTGATTAAAAAATTCCTGCATATTTTTTCATCACTATAGTCTTAGCAAGAGTAACACAAGGAAATATTGTACTCAAAAGTGATTTTAAATAGTTTTCTTACGTCACTGTTTCTTTTGCAGTCACAAACTGGACCAGCACACTGAAAGACAAAAATGCGATTATCACCTCACTTTTAAAA... | benign | 120,613 |
Variant at chromosome position 81968975, chromosome 7, gene CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CATCATATTGACATGACCATTTTTTTACCTTCCAAGGATACATACATATTTTTAAAAATTCAAGCACTTTACATTCAAAATCAAAAGCATACAAATTCAAATGAATATATTATTTCACATTTCCATAGAATTTTTTAGCCTTTGATTAAAAAATTCCTGCATATTTTTTCATCACTATAGTCTTAGCAAGAGTAACACAAGGAAATATTGTACTCAAAAGTGATTTTAAATAGTTTTCTTACGTCACTGTTTCTTTTGCAGTCACAAACTGGACCAGCACACTGAAAGACAAAAATGCGATTATCACCTCACTTTTAAAA... | CATCATATTGACATGACCATTTTTTTACCTTCCAAGGATACATACATATTTTTAAAAATTCAAGCACTTTACATTCAAAATCAAAAGCATACAAATTCAAATGAATATATTATTTCACATTTCCATAGAATTTTTTAGCCTTTGATTAAAAAATTCCTGCATATTTTTTCATCACTATAGTCTTAGCAAGAGTAACACAAGGAAATATTGTACTCAAAAGTGATTTTAAATAGTTTTCTTACGTCACTGTTTCTTTTGCAGTCACAAACTGGACCAGCACACTGAAAGACAAAAATGCGATTATCACCTCACTTTTAAAA... | benign | 120,614 |
Benign or pathogenic: chromosome 7, position 81974555, gene CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1) variant? Disease(s) if pathogenic? | benign | AAATCTACTGGTATTGGTCAAAGAACCAATACCTAAGTAGATAATAGGTTGTCATTTCTAGAATAACTGAAGTGCATATTAGCCCAAGTTTAAAGATAATTGAGGAAACAGGTGATGAGGATCAAAGGCCAATTATTATGTATTCTTAAACAAAAACCTCTGCCTTCTTCCCATTCTCCTTGTTCCTCTAAACCCATTAAGCTCTGAAATACCCTAACAGGTACCCTCTGAAATTGCACATTTACGACAAAATTTGACTTTTTCAGATAAAGAATATATGTTCTTAACATCCTATTACTATACAACATGGTGGTGAGATA... | AAATCTACTGGTATTGGTCAAAGAACCAATACCTAAGTAGATAATAGGTTGTCATTTCTAGAATAACTGAAGTGCATATTAGCCCAAGTTTAAAGATAATTGAGGAAACAGGTGATGAGGATCAAAGGCCAATTATTATGTATTCTTAAACAAAAACCTCTGCCTTCTTCCCATTCTCCTTGTTCCTCTAAACCCATTAAGCTCTGAAATACCCTAACAGGTACCCTCTGAAATTGCACATTTACGACAAAATTTGACTTTTTCAGATAAAGAATATATGTTCTTAACATCCTATTACTATACAACATGGTGGTGAGATA... | benign | 120,634 |
Considering the genetic mutation at chromosome 7, position 81974555, impacting CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAATCTACTGGTATTGGTCAAAGAACCAATACCTAAGTAGATAATAGGTTGTCATTTCTAGAATAACTGAAGTGCATATTAGCCCAAGTTTAAAGATAATTGAGGAAACAGGTGATGAGGATCAAAGGCCAATTATTATGTATTCTTAAACAAAAACCTCTGCCTTCTTCCCATTCTCCTTGTTCCTCTAAACCCATTAAGCTCTGAAATACCCTAACAGGTACCCTCTGAAATTGCACATTTACGACAAAATTTGACTTTTTCAGATAAAGAATATATGTTCTTAACATCCTATTACTATACAACATGGTGGTGAGATA... | AAATCTACTGGTATTGGTCAAAGAACCAATACCTAAGTAGATAATAGGTTGTCATTTCTAGAATAACTGAAGTGCATATTAGCCCAAGTTTAAAGATAATTGAGGAAACAGGTGATGAGGATCAAAGGCCAATTATTATGTATTCTTAAACAAAAACCTCTGCCTTCTTCCCATTCTCCTTGTTCCTCTAAACCCATTAAGCTCTGAAATACCCTAACAGGTACCCTCTGAAATTGCACATTTACGACAAAATTTGACTTTTTCAGATAAAGAATATATGTTCTTAACATCCTATTACTATACAACATGGTGGTGAGATA... | benign | 120,635 |
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