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 |
|---|---|---|---|---|---|
Assess the variant on chromosome 5, position 156508653, impacting SGCD (sarcoglycan delta): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F', 'Dilated_cardiomyopathy_1L'] | AAAGGGTGCAGCAGTCAACTGGAAAAAAACCCTTGACTGAAGTAGGGAAATTAGAAAATTATAGGGATAATAATTGGGCTAGAATGAAACAAATGAAAATGTTTATAGTCATAGTTAAAAAGTAAAAACCTCATTGGTTTGGAAGATACTAGGTGGAAGATGTTAGATAGCCAATTCAGTATTTTAAAGATCAACAATAAAGGAGGGAAAATCCAACTCTGTCAATTCCTCTACAAACTAAAATTCAGAGTTAGCAAATAGTTGATGAGATGAACTTTCTCTGGCTAGTATTCCCAGCTAGTAAATTAAGAATAATAGAA... | AAAGGGTGCAGCAGTCAACTGGAAAAAAACCCTTGACTGAAGTAGGGAAATTAGAAAATTATAGGGATAATAATTGGGCTAGAATGAAACAAATGAAAATGTTTATAGTCATAGTTAAAAAGTAAAAACCTCATTGGTTTGGAAGATACTAGGTGGAAGATGTTAGATAGCCAATTCAGTATTTTAAAGATCAACAATAAAGGAGGGAAAATCCAACTCTGTCAATTCCTCTACAAACTAAAATTCAGAGTTAGCAAATAGTTGATGAGATGAACTTTCTCTGGCTAGTATTCCCAGCTAGTAAATTAAGAATAATAGAA... | pathogenic | 103,204 |
Is chromosome 5, position 156589288, gene SGCD (sarcoglycan delta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F', 'Dilated_cardiomyopathy_1L'] | AGGATTCCAGCCACGCTAAGAGTTCAAAGCCCTTCCTGAATGTGGGAGTTGTTGTGTGCTGTCTCGTGGTTTTCACTATTTATCTGAATTCCCAGATCAGATTGTTAGCTCTTCAGAGAGCAAGGAAAATATACTACACTGTAGGATTATTAAGGTAAGTAACTTCTGTCAGCCACATCACATCAAAACAGGCTGTGATGATATGGTTGCTATCAAATACAAATATGAAAATCTGCACCTTTCATACCAGGAGAGCATAAATCTTGATTGAAGTGATATCATATTCCCTCCCCTTTCCTCCACTTTTGAAAGCCACCTGG... | AGGATTCCAGCCACGCTAAGAGTTCAAAGCCCTTCCTGAATGTGGGAGTTGTTGTGTGCTGTCTCGTGGTTTTCACTATTTATCTGAATTCCCAGATCAGATTGTTAGCTCTTCAGAGAGCAAGGAAAATATACTACACTGTAGGATTATTAAGGTAAGTAACTTCTGTCAGCCACATCACATCAAAACAGGCTGTGATGATATGGTTGCTATCAAATACAAATATGAAAATCTGCACCTTTCATACCAGGAGAGCATAAATCTTGATTGAAGTGATATCATATTCCCTCCCCTTTCCTCCACTTTTGAAAGCCACCTGG... | pathogenic | 103,213 |
Benign or pathogenic: chromosome 5, position 156594935, gene SGCD (sarcoglycan delta) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F', 'Neuromuscular_disease'] | GATGTGATTATGTGAGTAAGGAGAGTGCACTAATAAGTACTCATCATGCATTCTTTTCCACGTGTTGTCCCATTGCAGTAGAATGGCGACATCCACAAGAGTGGTGATGTCCACAGGAGTGGTTTCCTACACTCACAGCACTTTACCACCCATAGATTTCTTTTTATAAACACAATGTCATTTGATTCTTTCAAACTTTCTATAACATAGATAGATACAGTAGGCAGTGATAGTCCAATGTTATAGATGCAGAAACTGAGGTTCAGAAAGATCAAATGATTTGCCCCAAATCATGTTATCACAGAATAAGAATGAGTTGG... | GATGTGATTATGTGAGTAAGGAGAGTGCACTAATAAGTACTCATCATGCATTCTTTTCCACGTGTTGTCCCATTGCAGTAGAATGGCGACATCCACAAGAGTGGTGATGTCCACAGGAGTGGTTTCCTACACTCACAGCACTTTACCACCCATAGATTTCTTTTTATAAACACAATGTCATTTGATTCTTTCAAACTTTCTATAACATAGATAGATACAGTAGGCAGTGATAGTCCAATGTTATAGATGCAGAAACTGAGGTTCAGAAAGATCAAATGATTTGCCCCAAATCATGTTATCACAGAATAAGAATGAGTTGG... | pathogenic | 103,216 |
Clinical classification of chromosome 5, position 156594986, gene SGCD (sarcoglycan delta): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F', 'Dilated_cardiomyopathy_1L'] | TCTTTTCCACGTGTTGTCCCATTGCAGTAGAATGGCGACATCCACAAGAGTGGTGATGTCCACAGGAGTGGTTTCCTACACTCACAGCACTTTACCACCCATAGATTTCTTTTTATAAACACAATGTCATTTGATTCTTTCAAACTTTCTATAACATAGATAGATACAGTAGGCAGTGATAGTCCAATGTTATAGATGCAGAAACTGAGGTTCAGAAAGATCAAATGATTTGCCCCAAATCATGTTATCACAGAATAAGAATGAGTTGGGAAATAATTCATGTCTTCTGATTCCTAGTCCGACAGTCTTGACAAAGAGAA... | TCTTTTCCACGTGTTGTCCCATTGCAGTAGAATGGCGACATCCACAAGAGTGGTGATGTCCACAGGAGTGGTTTCCTACACTCACAGCACTTTACCACCCATAGATTTCTTTTTATAAACACAATGTCATTTGATTCTTTCAAACTTTCTATAACATAGATAGATACAGTAGGCAGTGATAGTCCAATGTTATAGATGCAGAAACTGAGGTTCAGAAAGATCAAATGATTTGCCCCAAATCATGTTATCACAGAATAAGAATGAGTTGGGAAATAATTCATGTCTTCTGATTCCTAGTCCGACAGTCTTGACAAAGAGAA... | pathogenic | 103,218 |
Is chromosome 5, position 156757660, gene SGCD (sarcoglycan delta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F', 'Dilated_cardiomyopathy_1L'] | AACCAAATGCAAATGAGATGAACCACAATAATGGGCAGAACTGCACCTGGTTCAGCACAACCTGGTGAAGGTCTTAAGAGGAGGGGAGGTGGGGAGTGGAGGATTTTTGCCACACCCAAAGGGGTGAGACCACAGAAGAAAAAATTATTTACATAGAAACTCAGGCCAATCCTTTCGTAAGTACTCCAGGACTATTGCTTCTCTTGATGATTTTAGTTGAGTCATTGTAGGGGGGGACAATTCAAGGGAGAAGGCTGCTGCCTGGAAGCAATCCTCAGGAACCTAGACCTGAAAAATGTGGATGAGCTCTCTCTTGGCAT... | AACCAAATGCAAATGAGATGAACCACAATAATGGGCAGAACTGCACCTGGTTCAGCACAACCTGGTGAAGGTCTTAAGAGGAGGGGAGGTGGGGAGTGGAGGATTTTTGCCACACCCAAAGGGGTGAGACCACAGAAGAAAAAATTATTTACATAGAAACTCAGGCCAATCCTTTCGTAAGTACTCCAGGACTATTGCTTCTCTTGATGATTTTAGTTGAGTCATTGTAGGGGGGGACAATTCAAGGGAGAAGGCTGCTGCCTGGAAGCAATCCTCAGGAACCTAGACCTGAAAAATGTGGATGAGCTCTCTCTTGGCAT... | pathogenic | 103,229 |
Variant in SGCD (sarcoglycan delta), chromosome 5, position 156757714—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GCACAACCTGGTGAAGGTCTTAAGAGGAGGGGAGGTGGGGAGTGGAGGATTTTTGCCACACCCAAAGGGGTGAGACCACAGAAGAAAAAATTATTTACATAGAAACTCAGGCCAATCCTTTCGTAAGTACTCCAGGACTATTGCTTCTCTTGATGATTTTAGTTGAGTCATTGTAGGGGGGGACAATTCAAGGGAGAAGGCTGCTGCCTGGAAGCAATCCTCAGGAACCTAGACCTGAAAAATGTGGATGAGCTCTCTCTTGGCATTTGTGCAATGTGGCTGGGGGTTGCTCCGTAGTGGATCTTACTGGTCAGCTTGCT... | GCACAACCTGGTGAAGGTCTTAAGAGGAGGGGAGGTGGGGAGTGGAGGATTTTTGCCACACCCAAAGGGGTGAGACCACAGAAGAAAAAATTATTTACATAGAAACTCAGGCCAATCCTTTCGTAAGTACTCCAGGACTATTGCTTCTCTTGATGATTTTAGTTGAGTCATTGTAGGGGGGGACAATTCAAGGGAGAAGGCTGCTGCCTGGAAGCAATCCTCAGGAACCTAGACCTGAAAAATGTGGATGAGCTCTCTCTTGGCATTTGTGCAATGTGGCTGGGGGTTGCTCCGTAGTGGATCTTACTGGTCAGCTTGCT... | benign | 103,230 |
Variant at chromosome position 156763161, chromosome 5, gene SGCD (sarcoglycan delta): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGGAAGTTTTGTGATAGGAGAGAAATAAAAGATTTGATATTTTTTGAGATGACACTCAAGCATCAGGCTGAGATTTGCACACATGGGATGTAAAAGCAAGCTGTGTGTTGCTTAGTCACTTACTTAGAAGTAGATGGTGGGGGACAGCGGCGTGGGTCCTAGCCTGGCCAGTGATGCTGCTGGCGTCCAGACCCCAGACTCACTCCAAGCACTCTTGTTCAATATCTCATGCAGAAGAGTTGGGCTGGTCACTCTTAGGGGTGAGACCCCGTGATTGGTTGGTTTGTAGCACTAAGGTCTAAAAAGGAAAACCATAAAAG... | GGGAAGTTTTGTGATAGGAGAGAAATAAAAGATTTGATATTTTTTGAGATGACACTCAAGCATCAGGCTGAGATTTGCACACATGGGATGTAAAAGCAAGCTGTGTGTTGCTTAGTCACTTACTTAGAAGTAGATGGTGGGGGACAGCGGCGTGGGTCCTAGCCTGGCCAGTGATGCTGCTGGCGTCCAGACCCCAGACTCACTCCAAGCACTCTTGTTCAATATCTCATGCAGAAGAGTTGGGCTGGTCACTCTTAGGGGTGAGACCCCGTGATTGGTTGGTTTGTAGCACTAAGGTCTAAAAAGGAAAACCATAAAAG... | benign | 103,249 |
Chromosome 5, position 157052557, gene HAVCR1 (hepatitis A virus cellular receptor 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ACTCATGCAAACTCTTTAGAGAACTATCCAGATAAGAATAACCTCAAGTGATACCATCCTCCAAGTTATAGCCATATAAACCAACTCTTAGGAGAAAGGCAACTTTCTCCCATATCTCGGCTTTAAATGAAATCAGTGACTTGGGGATGTTCTCCAAAACCAGTCCACTAATCCATCCACCTTAGCAGACACAAGCTAAGTATTAGAAAGTGAAATCAACATTGAGAAAGTCTAACAGACTCTCTAGTGTGTGCGGCTGCCTGGAACAAAACTGTTTTTCTTACAAAACTTTTATGGCTCTAAAATCCCAGGTATGACCT... | ACTCATGCAAACTCTTTAGAGAACTATCCAGATAAGAATAACCTCAAGTGATACCATCCTCCAAGTTATAGCCATATAAACCAACTCTTAGGAGAAAGGCAACTTTCTCCCATATCTCGGCTTTAAATGAAATCAGTGACTTGGGGATGTTCTCCAAAACCAGTCCACTAATCCATCCACCTTAGCAGACACAAGCTAAGTATTAGAAAGTGAAATCAACATTGAGAAAGTCTAACAGACTCTCTAGTGTGTGCGGCTGCCTGGAACAAAACTGTTTTTCTTACAAAACTTTTATGGCTCTAAAATCCCAGGTATGACCT... | benign | 103,263 |
Determine if the mutation at chromosome 5, position 157294854 in gene CYFIP2 (cytoplasmic FMR1 interacting protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GTTGTGACACTGCCAGATTATTTTTCTGACTCACTTCACAGATTACCAAGAGTATGTGTATGTGTTCCATTTAATTCTCATAAAATTCTATGAGATTATTATTATTATCATGATTTAACAGATGACTAAGTGGAGAATTTTAGGATAAGTGATTTACAATAGACTAAAGGGCTAATAAGTGATGAAGCTGGGATTTGAGCCCAGATATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTGTGTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAATGGCGCAATCTAA... | GTTGTGACACTGCCAGATTATTTTTCTGACTCACTTCACAGATTACCAAGAGTATGTGTATGTGTTCCATTTAATTCTCATAAAATTCTATGAGATTATTATTATTATCATGATTTAACAGATGACTAAGTGGAGAATTTTAGGATAAGTGATTTACAATAGACTAAAGGGCTAATAAGTGATGAAGCTGGGATTTGAGCCCAGATATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTGTGTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAATGGCGCAATCTAA... | benign | 103,288 |
A genetic alteration at chromosome 5, position 157468807, in gene NIPAL4 (NIPA like domain containing 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_6'] | CCATTTAGGACAGAAATTGAGATGCCTGTGAGGAATCCAAGAGGAGATGTGAAGTAAGCAGTTGGATATACACCTGGACTCAGAAGGAAGGTCCAGGCTACAGATATAGAGGCATCAGATATAGATGGTATTTAAAACTTTAGGAACAAATGAACCCACCCAGGAGAAGGCCCAGAACCAAGCCTCAAGGAGCAGCCCTTAGAGGCCGGGGAGTGAGCAGAGAGTTAGGAAAGGTACCTGAGAAAGTGTGGCCAAGTTCCATCCTAACTTTGTGTCCATTCCCTCCACAGTGGATGGAGGCTTCGGCTACCTGAAAGATG... | CCATTTAGGACAGAAATTGAGATGCCTGTGAGGAATCCAAGAGGAGATGTGAAGTAAGCAGTTGGATATACACCTGGACTCAGAAGGAAGGTCCAGGCTACAGATATAGAGGCATCAGATATAGATGGTATTTAAAACTTTAGGAACAAATGAACCCACCCAGGAGAAGGCCCAGAACCAAGCCTCAAGGAGCAGCCCTTAGAGGCCGGGGAGTGAGCAGAGAGTTAGGAAAGGTACCTGAGAAAGTGTGGCCAAGTTCCATCCTAACTTTGTGTCCATTCCCTCCACAGTGGATGGAGGCTTCGGCTACCTGAAAGATG... | pathogenic | 103,336 |
Variant at chromosome 5, position 161336785, gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AATAAAATGGCCTACCTAATGCCACCCTTGCAGCTGAAGCATCGTAATTAATCCAGAAGGAGACCCAGGAGAGGATGGTAATCAGGATGGAAGGCATGTATGTTTGCAGGATAAAGTAGCCAATGTTTCTCTTAAGCTTAAAGCTGAGGGATAACCTGGGATAGGAACCTAGAAAGGCAATTTTAGAACATCATCATTATCAATCAATATTTATAGGATACTTTTCTTTAAAGGTGCATAAACAGTACCTCTTCTCTCAGTTCAGTTTTAGCTCTTAGTGAAGGACACTTTCTTCTGCAAAAGTAGTCTGAGAGCCCTGA... | AATAAAATGGCCTACCTAATGCCACCCTTGCAGCTGAAGCATCGTAATTAATCCAGAAGGAGACCCAGGAGAGGATGGTAATCAGGATGGAAGGCATGTATGTTTGCAGGATAAAGTAGCCAATGTTTCTCTTAAGCTTAAAGCTGAGGGATAACCTGGGATAGGAACCTAGAAAGGCAATTTTAGAACATCATCATTATCAATCAATATTTATAGGATACTTTTCTTTAAAGGTGCATAAACAGTACCTCTTCTCTCAGTTCAGTTTTAGCTCTTAGTGAAGGACACTTTCTTCTGCAAAAGTAGTCTGAGAGCCCTGA... | benign | 103,399 |
Does the variant impacting GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2) on chromosome 5, position 161459857, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTTATGAATTCATCCTCAACTTTTATTGCACTGCTATTTACAGTGTAGGTGCTTAGTCAGTATTGGGTATACAAAGGAGAATATGACATGTCCTGTGCCCTAAAAATAGGTATTCTGGAGAAACAGGAAGAGTGCAGGGTGATTTCTGCATTATTTCTGTGAAGATGAAGTGATATGATGGACAAAATGCATCCAGCACTGGGTCTGCTCTGGGTAACTTATCATTTCTAAGTCTCCTGCCTTCTTCTAGATTCTTACCTCCCTCCATGCTTAACTTTTTAAAAATATTAAACTACAGTCTTTTTTCATTCCCTATTCT... | ATTTATGAATTCATCCTCAACTTTTATTGCACTGCTATTTACAGTGTAGGTGCTTAGTCAGTATTGGGTATACAAAGGAGAATATGACATGTCCTGTGCCCTAAAAATAGGTATTCTGGAGAAACAGGAAGAGTGCAGGGTGATTTCTGCATTATTTCTGTGAAGATGAAGTGATATGATGGACAAAATGCATCCAGCACTGGGTCTGCTCTGGGTAACTTATCATTTCTAAGTCTCCTGCCTTCTTCTAGATTCTTACCTCCCTCCATGCTTAACTTTTTAAAAATATTAAACTACAGTCTTTTTTCATTCCCTATTCT... | benign | 103,410 |
Regarding the variant found on chromosome 5 at position 161459857 in gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATTTATGAATTCATCCTCAACTTTTATTGCACTGCTATTTACAGTGTAGGTGCTTAGTCAGTATTGGGTATACAAAGGAGAATATGACATGTCCTGTGCCCTAAAAATAGGTATTCTGGAGAAACAGGAAGAGTGCAGGGTGATTTCTGCATTATTTCTGTGAAGATGAAGTGATATGATGGACAAAATGCATCCAGCACTGGGTCTGCTCTGGGTAACTTATCATTTCTAAGTCTCCTGCCTTCTTCTAGATTCTTACCTCCCTCCATGCTTAACTTTTTAAAAATATTAAACTACAGTCTTTTTTCATTCCCTATTCT... | ATTTATGAATTCATCCTCAACTTTTATTGCACTGCTATTTACAGTGTAGGTGCTTAGTCAGTATTGGGTATACAAAGGAGAATATGACATGTCCTGTGCCCTAAAAATAGGTATTCTGGAGAAACAGGAAGAGTGCAGGGTGATTTCTGCATTATTTCTGTGAAGATGAAGTGATATGATGGACAAAATGCATCCAGCACTGGGTCTGCTCTGGGTAACTTATCATTTCTAAGTCTCCTGCCTTCTTCTAGATTCTTACCTCCCTCCATGCTTAACTTTTTAAAAATATTAAACTACAGTCTTTTTTCATTCCCTATTCT... | benign | 103,411 |
Considering the variant on chromosome 5, location 161546802, involving gene GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCCATTAACAGTAAACAGTGATCTTTGAAAGCAACGAGTGGGCATCAGTATTCCAGGGCCTTTATTAGTTTTGTTTGTAGGCTATATTCTCCATTAAATGTCAAATCAAAACTCTCCCTTCTTCCCATGACCCCACATCAAATCCAGAAAATCACTTAATGAACTGGGTTTCTCATTGAGCCTGAGGAGATGAGGCTTCTGTAGGGGGTCTCCTGCACGTGGTTGCGTTTTACACATGAATGTGTGATGCATTTTACTCCAAGTATCTGAACCAGGTTGAAAAAATCCTTAGGGACCAGAAAGAGTCAACTCTCTAACCT... | GCCATTAACAGTAAACAGTGATCTTTGAAAGCAACGAGTGGGCATCAGTATTCCAGGGCCTTTATTAGTTTTGTTTGTAGGCTATATTCTCCATTAAATGTCAAATCAAAACTCTCCCTTCTTCCCATGACCCCACATCAAATCCAGAAAATCACTTAATGAACTGGGTTTCTCATTGAGCCTGAGGAGATGAGGCTTCTGTAGGGGGTCTCCTGCACGTGGTTGCGTTTTACACATGAATGTGTGATGCATTTTACTCCAAGTATCTGAACCAGGTTGAAAAAATCCTTAGGGACCAGAAAGAGTCAACTCTCTAACCT... | benign | 103,419 |
Considering the variant on chromosome 5, location 161854146, involving gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TAAAGATGAAATGTCATTAAAAAATCACGTAAAATAAAGATTTCCATTCCAGCTGGGAAAGCAGAACTGGTCTTGGGGAAAAGGCAGTGGTCTCTTTGGGCATCTGCATTCCAATGCAAACAATTGGTGAAAACATTTGTAAGACAAAACCAGGAAGAAAAGCATTTTCTGAATTTTATATAAGCTGTAAAAACTTAGAGGGTGTAGATAAAGGTAATAAACACTCTATATTTTAAGAATTGTTTTAATAATTTAAGTTTATTTAGTCATGTTACCCCATTTCATCTTTTATTTCTTCTTATTGTATTGCTTTCTTCCTC... | TAAAGATGAAATGTCATTAAAAAATCACGTAAAATAAAGATTTCCATTCCAGCTGGGAAAGCAGAACTGGTCTTGGGGAAAAGGCAGTGGTCTCTTTGGGCATCTGCATTCCAATGCAAACAATTGGTGAAAACATTTGTAAGACAAAACCAGGAAGAAAAGCATTTTCTGAATTTTATATAAGCTGTAAAAACTTAGAGGGTGTAGATAAAGGTAATAAACACTCTATATTTTAAGAATTGTTTTAATAATTTAAGTTTATTTAGTCATGTTACCCCATTTCATCTTTTATTTCTTCTTATTGTATTGCTTTCTTCCTC... | benign | 103,431 |
For chromosome 5, position 161895646, gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTGCCTTAGAAGACCATATTCTTGGTTTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTAT... | GTGCCTTAGAAGACCATATTCTTGGTTTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTAT... | benign | 103,462 |
Evaluate if the mutation on chromosome 5 at position 161895646 in GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GTGCCTTAGAAGACCATATTCTTGGTTTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTAT... | GTGCCTTAGAAGACCATATTCTTGGTTTTCCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTAT... | benign | 103,463 |
Considering the variant on chromosome 5, location 161895675, involving gene GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_19', 'Epilepsy,_childhood_absence_4', 'Epilepsy,_idiopathic_generalized,_susceptibility_to,_13', 'Idiopathic_generalized_epilepsy'] | CCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATG... | CCATGCTGTCTCTCATCTGGAGGCAGTGTGGTCACTTAATTTTGCTGCCAAATACATCCAAGTTTGAGATTCAGTCTCGCCACCTACCAGCTGCATGGCATTGGCAAATTTACTTCCTCTTATGGAGCTTCAGTTGTCTGTTAAATGAAAGTACAAGGAAAGTAAAGTAATGCTGTTTTTTAAAAATTTAGCAAATAAAAAAAATATACATTGTCAGGTTCCATACTTGTAACTTAAAAGCTGTTCAACAAATCTGTGTTCTTTTCTCTTTTCCTATAACAGGAATTGTATTTTCCTATGGCACAAATTGTATCTTCATG... | pathogenic | 103,467 |
Is the chromosome 5, position 162095477 variant in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GAACTCCTCAAAGAAGGAAAGAGCAGACATTATACCTGAATTCTTAGACTACATATGATCCTTTAACCTCCATTTTCACACAAATAGTTTTCTTATAATTCCTTCAGGAGACTGGGAAGTAGGCAGAAAGAACATCAAATATGGGAAAAGTAAAAATAACTGGCAAAACATGGTTTATTTGTCCATGGGAGGGCAAAGAATTCTGAAAACCTGAAGCGTACACTTGAATACAGTTAGTCTCCATCTATGCAGTTTAATTAGCACAACCCTCAAGGGAGAATTTTCAGTTTAAACATTTCTTTTATCCTGTTTTATTTCTT... | GAACTCCTCAAAGAAGGAAAGAGCAGACATTATACCTGAATTCTTAGACTACATATGATCCTTTAACCTCCATTTTCACACAAATAGTTTTCTTATAATTCCTTCAGGAGACTGGGAAGTAGGCAGAAAGAACATCAAATATGGGAAAAGTAAAAATAACTGGCAAAACATGGTTTATTTGTCCATGGGAGGGCAAAGAATTCTGAAAACCTGAAGCGTACACTTGAATACAGTTAGTCTCCATCTATGCAGTTTAATTAGCACAACCCTCAAGGGAGAATTTTCAGTTTAAACATTTCTTTTATCCTGTTTTATTTCTT... | benign | 103,499 |
The chromosome 5, position 162097655 genetic variant in gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_2', 'Febrile_seizures,_familial,_8', 'Seizure'] | TGAGAGAAAATGTGATGTCATGGAAATAGCAAAAGACATGCCAGCAAAAAATTTAAGTTTAAAACTTTAGAAGTGAAAGATAGTCTTCCAGATCCTTTTTTTCTTGTAATATGAAGATAATTAAATGTTAAGTATTTTTATGAGAATTAAATGGGACCATATATATAATTAATTTGTGTAAATATGCTATGCTGTTGAAATTCAACAATCGGTGTTTACTTGCCAAGTGCTACTTACTACAAAATAGGATATAGTACTCAACTACTTATTAGAACATTGATAGTTTGGTTCAAATCAGAAATGTTTCTCAGATAAAATAG... | TGAGAGAAAATGTGATGTCATGGAAATAGCAAAAGACATGCCAGCAAAAAATTTAAGTTTAAAACTTTAGAAGTGAAAGATAGTCTTCCAGATCCTTTTTTTCTTGTAATATGAAGATAATTAAATGTTAAGTATTTTTATGAGAATTAAATGGGACCATATATATAATTAATTTGTGTAAATATGCTATGCTGTTGAAATTCAACAATCGGTGTTTACTTGCCAAGTGCTACTTACTACAAAATAGGATATAGTACTCAACTACTTATTAGAACATTGATAGTTTGGTTCAAATCAGAAATGTTTCTCAGATAAAATAG... | pathogenic | 103,506 |
Variant in gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2), located at chromosome 5 position 162097758: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_2', 'Febrile_seizures,_familial,_8'] | TTGTAATATGAAGATAATTAAATGTTAAGTATTTTTATGAGAATTAAATGGGACCATATATATAATTAATTTGTGTAAATATGCTATGCTGTTGAAATTCAACAATCGGTGTTTACTTGCCAAGTGCTACTTACTACAAAATAGGATATAGTACTCAACTACTTATTAGAACATTGATAGTTTGGTTCAAATCAGAAATGTTTCTCAGATAAAATAGTGTGTCAGATGTAATAATAAATGTAATTCTGTTCTTATGTAACACTTTCTACCCAAATGTGAAATACAAAACTAGACTGGAGTCCAAAATATGATATAATAGA... | TTGTAATATGAAGATAATTAAATGTTAAGTATTTTTATGAGAATTAAATGGGACCATATATATAATTAATTTGTGTAAATATGCTATGCTGTTGAAATTCAACAATCGGTGTTTACTTGCCAAGTGCTACTTACTACAAAATAGGATATAGTACTCAACTACTTATTAGAACATTGATAGTTTGGTTCAAATCAGAAATGTTTCTCAGATAAAATAGTGTGTCAGATGTAATAATAAATGTAATTCTGTTCTTATGTAACACTTTCTACCCAAATGTGAAATACAAAACTAGACTGGAGTCCAAAATATGATATAATAGA... | pathogenic | 103,511 |
Is the genetic variant on chromosome 5, position 162097775, gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_2', 'Febrile_seizures,_familial,_8'] | TTAAATGTTAAGTATTTTTATGAGAATTAAATGGGACCATATATATAATTAATTTGTGTAAATATGCTATGCTGTTGAAATTCAACAATCGGTGTTTACTTGCCAAGTGCTACTTACTACAAAATAGGATATAGTACTCAACTACTTATTAGAACATTGATAGTTTGGTTCAAATCAGAAATGTTTCTCAGATAAAATAGTGTGTCAGATGTAATAATAAATGTAATTCTGTTCTTATGTAACACTTTCTACCCAAATGTGAAATACAAAACTAGACTGGAGTCCAAAATATGATATAATAGAGAATGTAAAATAGAGTA... | TTAAATGTTAAGTATTTTTATGAGAATTAAATGGGACCATATATATAATTAATTTGTGTAAATATGCTATGCTGTTGAAATTCAACAATCGGTGTTTACTTGCCAAGTGCTACTTACTACAAAATAGGATATAGTACTCAACTACTTATTAGAACATTGATAGTTTGGTTCAAATCAGAAATGTTTCTCAGATAAAATAGTGTGTCAGATGTAATAATAAATGTAATTCTGTTCTTATGTAACACTTTCTACCCAAATGTGAAATACAAAACTAGACTGGAGTCCAAAATATGATATAATAGAGAATGTAAAATAGAGTA... | pathogenic | 103,512 |
Variant in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2), chromosome 5, position 162153156—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_2', 'Febrile_seizures,_familial,_8'] | TGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGCAGAGGAGAACAGGATAAAAATTTGAGAAAATGAAATTACCTGAGAATTTCATGCACTTCTTTTTAGGCAATTAGATGATTCATCAGAACTAGCAAGAAAATAAACTAGGAATGAGAAGCTGAAAGTTTATTTTCCTGTTTAATATGCCTTTTGGATAATTGTGTCAAGACTCACCTATTAAGTTATCCGTGATGATAATTAGAAAATAGAATCATAGTATTTTTAAA... | TGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGCAGAGGAGAACAGGATAAAAATTTGAGAAAATGAAATTACCTGAGAATTTCATGCACTTCTTTTTAGGCAATTAGATGATTCATCAGAACTAGCAAGAAAATAAACTAGGAATGAGAAGCTGAAAGTTTATTTTCCTGTTTAATATGCCTTTTGGATAATTGTGTCAAGACTCACCTATTAAGTTATCCGTGATGATAATTAGAAAATAGAATCATAGTATTTTTAAA... | pathogenic | 103,554 |
Classify the chromosome 5 variant at position 168500574 affecting gene RARS1 (arginyl-tRNA synthetase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AAACTTTTGTGTTACTTTATGACTGCACATTTTGTTGGATCAGTGTACCAATGTTTACATTAATCCTTTATTAGGATTTTTTTCTATTTTAGAGGTGTTGTTATTCAGTAAATAGCTTTGTACACTTGGATTTTTTTCCCTCTTTAAAAATTATTTCCTGGCTGGGTTCAGTGGCTCACACTTGTAATCCCAACATTTTGAGAGGCCAAGGTGGGCAAAATGCTTGAGCCTAGGAGTTTGAGACCAGTCTGGGCAACATGGCAAAACCTCATCTCCACAAAAAATACAAAAGTTAGCCAGGCATGTTGGTGTACATCTGT... | AAACTTTTGTGTTACTTTATGACTGCACATTTTGTTGGATCAGTGTACCAATGTTTACATTAATCCTTTATTAGGATTTTTTTCTATTTTAGAGGTGTTGTTATTCAGTAAATAGCTTTGTACACTTGGATTTTTTTCCCTCTTTAAAAATTATTTCCTGGCTGGGTTCAGTGGCTCACACTTGTAATCCCAACATTTTGAGAGGCCAAGGTGGGCAAAATGCTTGAGCCTAGGAGTTTGAGACCAGTCTGGGCAACATGGCAAAACCTCATCTCCACAAAAAATACAAAAGTTAGCCAGGCATGTTGGTGTACATCTGT... | benign | 103,576 |
Is the genetic mutation found on chromosome 5 at position 168506668, within the gene RARS1 (arginyl-tRNA synthetase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGTTGGCAGGTGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGCCAGGCGTGATCGTGCATGCCTGTGGTGACAGCTTCACGAGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTCTAAGCCACAGTGAACATGTT... | TTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGTTGGCAGGTGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGCCAGGCGTGATCGTGCATGCCTGTGGTGACAGCTTCACGAGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGGTCTAAGCCACAGTGAACATGTT... | benign | 103,586 |
Benign or pathogenic: chromosome 5, position 168510671, gene RARS1 (arginyl-tRNA synthetase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | AAAAAAAAAAAAAAAAAAAAAATTCTCACAGAGGGGGATGGGACTTAAGAAAAAGGTTTGTTTTCTTTAATGCTCACAGATTCTATTTTTAAATGACATTTTCTGTTTTAATTTTTTGAATGATAATTTTTTTTTAATTTCATCATCTTCCTGCTATTCCTTGTACATCTGTTTATTGAGGATGTGCTGTGCATGGTGTTGGTTGGATGCTCCACAATGTGTATATGCAGGTACACGGAACATGAGCTCCTCTCTGAAAGAGGCTATCATCTAGAGCAGAGCAGTTTCCTGTGGAGCTTGTGAAAATACACATGCAAGCC... | AAAAAAAAAAAAAAAAAAAAAATTCTCACAGAGGGGGATGGGACTTAAGAAAAAGGTTTGTTTTCTTTAATGCTCACAGATTCTATTTTTAAATGACATTTTCTGTTTTAATTTTTTGAATGATAATTTTTTTTTAATTTCATCATCTTCCTGCTATTCCTTGTACATCTGTTTATTGAGGATGTGCTGTGCATGGTGTTGGTTGGATGCTCCACAATGTGTATATGCAGGTACACGGAACATGAGCTCCTCTCTGAAAGAGGCTATCATCTAGAGCAGAGCAGTTTCCTGTGGAGCTTGTGAAAATACACATGCAAGCC... | pathogenic | 103,593 |
Is the variant located on chromosome 5 at position 168517803, gene RARS1 (arginyl-tRNA synthetase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTTGCCGCTGCAGAACTGCCTTGTGTCACACAGCTGCTGAAATCACTGCTCAGCTCTTTAATTACCATTTGCTCTTTCCTGATAGATTTTTTGGAGTCTTGCCTTGTGCATGCCAGCCATATGACATTTGAAAGAAATGTGTTCACAGAGTCTTTGACTCCTCTGTGGCTCCTTCTTTTTGGGGATTGTGTCCTTGCTTCTTTGGCAGCCCCGTACTCTAAACTCTTGTCTTCTCACCTCAGCAAGACCACTTCTTTCTGCTTGGGTTCTGTCCCCTTTGTCCACTATGTAGTGATTTGAAAAATGCCCTTGGGGAAAAA... | TTTGCCGCTGCAGAACTGCCTTGTGTCACACAGCTGCTGAAATCACTGCTCAGCTCTTTAATTACCATTTGCTCTTTCCTGATAGATTTTTTGGAGTCTTGCCTTGTGCATGCCAGCCATATGACATTTGAAAGAAATGTGTTCACAGAGTCTTTGACTCCTCTGTGGCTCCTTCTTTTTGGGGATTGTGTCCTTGCTTCTTTGGCAGCCCCGTACTCTAAACTCTTGTCTTCTCACCTCAGCAAGACCACTTCTTTCTGCTTGGGTTCTGTCCCCTTTGTCCACTATGTAGTGATTTGAAAAATGCCCTTGGGGAAAAA... | benign | 103,599 |
Is the genetic change at chromosome 5, position 172339475, within gene SH3PXD2B (SH3 and PX domains 2B) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TATAAAGGGAGGTTGTGAGGGTCAAAGCATGAATGCAAAGCGCCAAGTACAGTGTTTGGCACCCACGAGGCACTCAGCAAAGGGGTGCTCACAAGGGCACGACTTGTGAATGGGCCTCTTATTCAAACAAACTTTGAGATTCTTGCTTTAGGTAGGCAAAAATGAAATGCTCCAAGTTGGGGTGGGAACTCTCATTGAAAAGCCCTGGAGGGACCGGAGCCTGCAGCAGCAAAGCGCAGCATACGCGGGGCTGGAACCACCCTTCAGGGCTGACCACGGTCCCAAGATAGAAGGTGGGAGGCAGGGCGGCTGAGCGGATC... | TATAAAGGGAGGTTGTGAGGGTCAAAGCATGAATGCAAAGCGCCAAGTACAGTGTTTGGCACCCACGAGGCACTCAGCAAAGGGGTGCTCACAAGGGCACGACTTGTGAATGGGCCTCTTATTCAAACAAACTTTGAGATTCTTGCTTTAGGTAGGCAAAAATGAAATGCTCCAAGTTGGGGTGGGAACTCTCATTGAAAAGCCCTGGAGGGACCGGAGCCTGCAGCAGCAAAGCGCAGCATACGCGGGGCTGGAACCACCCTTCAGGGCTGACCACGGTCCCAAGATAGAAGGTGGGAGGCAGGGCGGCTGAGCGGATC... | benign | 103,665 |
Clinically, how would you classify the variant at chromosome 5, position 173232760, gene NKX2-5 (NK2 homeobox 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Atrial_septal_defect_7', 'Conotruncal_heart_malformations', 'Hypoplastic_left_heart_syndrome_2', 'Hypothyroidism,_congenital,_nongoitrous,_5', 'Malformation_of_the_heart_and_great_vessels', 'NKX2-5-related_disorder', 'Tetralogy_of_Fallot', 'Ventricular_septal_defect_3'] | CAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAA... | CAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAA... | pathogenic | 103,705 |
The chromosome 5, position 173232897 genetic variant in gene NKX2-5 (NK2 homeobox 5): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Atrial_septal_defect_7', 'Cardiovascular_phenotype'] | GCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGA... | GCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGA... | pathogenic | 103,713 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 173232937, gene NKX2-5 (NK2 homeobox 5). What disease(s) is it linked to if pathogenic? | pathogenic; ['Atrial_septal_defect_7', 'Inborn_genetic_diseases'] | AGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAA... | AGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAA... | pathogenic | 103,716 |
Classify the chromosome 5 variant at position 173233064 affecting gene NKX2-5 (NK2 homeobox 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Abnormal_cardiovascular_system_morphology'] | TCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATC... | TCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATC... | pathogenic | 103,731 |
The mutation impacting NKX2-5 (NK2 homeobox 5) on chromosome 5 at position 173233518: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTG... | TGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTG... | benign | 103,745 |
Does the variant on chromosome 5 at location 173234871 affecting gene NKX2-5 (NK2 homeobox 5) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Atrial_septal_defect_7', 'Cardiovascular_phenotype'] | AGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCC... | AGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCC... | pathogenic | 103,758 |
A genetic variant at chromosome 5, position 173234897, affecting gene NKX2-5 (NK2 homeobox 5)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Atrial_septal_defect_7', 'Cardiovascular_phenotype'] | CCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTC... | CCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTC... | pathogenic | 103,762 |
Does the genetic variant at chromosome 5, position 173234946, impacting gene NKX2-5 (NK2 homeobox 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Atrial_septal_defect_7', 'Cardiovascular_phenotype'] | GGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGG... | GGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGG... | pathogenic | 103,766 |
Regarding the variant found on chromosome 5 at position 177209544 in gene NSD1 (nuclear receptor binding SET domain protein 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAGCACTGGGATTGCAGGCGTGAGCCACCGTGCCTGGCCTATTTATTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGAAGGGGTGGGTCTCCCTGTGTTTCCCAGGCTGGGCTAAAGGCATCCTCCTGCCTCAGCCTCGCAAAGTGCTGGGATTAAAGGTGTGAGCCACTCCACGCAGCCTTTTATTCATTTATTTTATTTTTTAAAATTTGAGACAGGATCGTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACGGTTTCGGCA... | ATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAGCACTGGGATTGCAGGCGTGAGCCACCGTGCCTGGCCTATTTATTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGAAGGGGTGGGTCTCCCTGTGTTTCCCAGGCTGGGCTAAAGGCATCCTCCTGCCTCAGCCTCGCAAAGTGCTGGGATTAAAGGTGTGAGCCACTCCACGCAGCCTTTTATTCATTTATTTTATTTTTTAAAATTTGAGACAGGATCGTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACGGTTTCGGCA... | benign | 103,807 |
Is chromosome 5, position 177210120, gene NSD1 (nuclear receptor binding SET domain protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Sotos_syndrome'] | AATGTTTACTTGCTCTGCAGAACATCCCCTTCACAAATATTAAACTATTTGTGAACACTATGTGGTAGTTAGAATCTTGACTAATACCTATTGTATGGAGGTAAGGAAGAAAATAAGAGTCTGAAAAATTAGCTGTATTTCAGAGTCTCAATGTTTTCATGCTGTGAGGTATCCAGAAAAGATAATGTAATACCCATGGTGTCATCAGTATAATAGCTCTGGATTACATGATGAAGCCTAGGAGATGGCTTGGTTATAATCCAGGTTATATTTAACATTTATAGTCGATTCTTGATTAGCCAGGTGGCTAGTGATAACTA... | AATGTTTACTTGCTCTGCAGAACATCCCCTTCACAAATATTAAACTATTTGTGAACACTATGTGGTAGTTAGAATCTTGACTAATACCTATTGTATGGAGGTAAGGAAGAAAATAAGAGTCTGAAAAATTAGCTGTATTTCAGAGTCTCAATGTTTTCATGCTGTGAGGTATCCAGAAAAGATAATGTAATACCCATGGTGTCATCAGTATAATAGCTCTGGATTACATGATGAAGCCTAGGAGATGGCTTGGTTATAATCCAGGTTATATTTAACATTTATAGTCGATTCTTGATTAGCCAGGTGGCTAGTGATAACTA... | pathogenic | 103,825 |
Gene mutation in NSD1 (nuclear receptor binding SET domain protein 1) at chromosome 5, position 177210165—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Sotos_syndrome'] | TATTTGTGAACACTATGTGGTAGTTAGAATCTTGACTAATACCTATTGTATGGAGGTAAGGAAGAAAATAAGAGTCTGAAAAATTAGCTGTATTTCAGAGTCTCAATGTTTTCATGCTGTGAGGTATCCAGAAAAGATAATGTAATACCCATGGTGTCATCAGTATAATAGCTCTGGATTACATGATGAAGCCTAGGAGATGGCTTGGTTATAATCCAGGTTATATTTAACATTTATAGTCGATTCTTGATTAGCCAGGTGGCTAGTGATAACTAGAATTTCAAATTTCAAGTTCCCTAGGGAGGTAGATCAAACCTGCT... | TATTTGTGAACACTATGTGGTAGTTAGAATCTTGACTAATACCTATTGTATGGAGGTAAGGAAGAAAATAAGAGTCTGAAAAATTAGCTGTATTTCAGAGTCTCAATGTTTTCATGCTGTGAGGTATCCAGAAAAGATAATGTAATACCCATGGTGTCATCAGTATAATAGCTCTGGATTACATGATGAAGCCTAGGAGATGGCTTGGTTATAATCCAGGTTATATTTAACATTTATAGTCGATTCTTGATTAGCCAGGTGGCTAGTGATAACTAGAATTTCAAATTTCAAGTTCCCTAGGGAGGTAGATCAAACCTGCT... | pathogenic | 103,828 |
The mutation impacting NSD1 (nuclear receptor binding SET domain protein 1) on chromosome 5 at position 177210445: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Sotos_syndrome'] | TCAAATTTCAAGTTCCCTAGGGAGGTAGATCAAACCTGCTGATTCCTCTTATCCTGTTTTTTCTATATTCATCATCTTTAACCTTTTTTTCTTTTTCTTTTTTTTTTCTTGGTTTTTCTTTTTCTTTTTTTCTTTTCTTTTTTCTTTTTGAGAAAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTCAGCTCACTGGAGCCTCCACTTACTGGGTACAAATGATTCTCGTGTCTTAGCCTCCCTACTTTCTTTTTTATGCAACTGAACATGTGTTTGGCCTTCATATTCCTTAATTAATTAATTAAT... | TCAAATTTCAAGTTCCCTAGGGAGGTAGATCAAACCTGCTGATTCCTCTTATCCTGTTTTTTCTATATTCATCATCTTTAACCTTTTTTTCTTTTTCTTTTTTTTTTCTTGGTTTTTCTTTTTCTTTTTTTCTTTTCTTTTTTCTTTTTGAGAAAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTCAGCTCACTGGAGCCTCCACTTACTGGGTACAAATGATTCTCGTGTCTTAGCCTCCCTACTTTCTTTTTTATGCAACTGAACATGTGTTTGGCCTTCATATTCCTTAATTAATTAATTAAT... | pathogenic | 103,844 |
Does the variant impacting NSD1 (nuclear receptor binding SET domain protein 1) on chromosome 5, position 177210647, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Beckwith-Wiedemann_syndrome', 'Inborn_genetic_diseases', 'NSD1-related_disorder', 'Sotos_syndrome'] | CTCACTGGAGCCTCCACTTACTGGGTACAAATGATTCTCGTGTCTTAGCCTCCCTACTTTCTTTTTTATGCAACTGAACATGTGTTTGGCCTTCATATTCCTTAATTAATTAATTAATTAATTAATTTTTTGAGATGGAGTCTTGCTCTGTCCCCCATGCTGGAGTGCAATGGCGTGATCTCCAACTCCCGGGTGCTAGTGATTCTCCTGCCTCAGCCTCCACAGTAGCTGGGAGTATAGGTGTCTGCCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTGGCGATGTTGGCCAGGGTTGTCTTGAA... | CTCACTGGAGCCTCCACTTACTGGGTACAAATGATTCTCGTGTCTTAGCCTCCCTACTTTCTTTTTTATGCAACTGAACATGTGTTTGGCCTTCATATTCCTTAATTAATTAATTAATTAATTAATTTTTTGAGATGGAGTCTTGCTCTGTCCCCCATGCTGGAGTGCAATGGCGTGATCTCCAACTCCCGGGTGCTAGTGATTCTCCTGCCTCAGCCTCCACAGTAGCTGGGAGTATAGGTGTCTGCCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTGGCGATGTTGGCCAGGGTTGTCTTGAA... | pathogenic | 103,853 |
Chromosome 5, position 177210781, gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Sotos_syndrome'] | ATGGAGTCTTGCTCTGTCCCCCATGCTGGAGTGCAATGGCGTGATCTCCAACTCCCGGGTGCTAGTGATTCTCCTGCCTCAGCCTCCACAGTAGCTGGGAGTATAGGTGTCTGCCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTGGCGATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTGAGGTGATTCGTCCTCCTCAGCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACACACCCGGCCAAGTATTCTTTAATTTAGAAATGTAATGTTACCAGTTTTAGTCTATATTCTGCTTTGT... | ATGGAGTCTTGCTCTGTCCCCCATGCTGGAGTGCAATGGCGTGATCTCCAACTCCCGGGTGCTAGTGATTCTCCTGCCTCAGCCTCCACAGTAGCTGGGAGTATAGGTGTCTGCCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTGGCGATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTGAGGTGATTCGTCCTCCTCAGCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACACACCCGGCCAAGTATTCTTTAATTTAGAAATGTAATGTTACCAGTTTTAGTCTATATTCTGCTTTGT... | pathogenic | 103,859 |
Considering the genetic mutation at chromosome 5, position 177211032, impacting NSD1 (nuclear receptor binding SET domain protein 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neurodevelopmental_delay'] | CACACCCGGCCAAGTATTCTTTAATTTAGAAATGTAATGTTACCAGTTTTAGTCTATATTCTGCTTTGTGCTTATAAATGCAGGGAGGGTGGAGTGTTTGTGAGATCAGTCCTTACTCTAATGACATAATCTTATTAGCAGAAGTATTTTTGAGGAAGCTCCATTAGGGTGATTCAGATGCTGCTTGAGCTCAGGTGCTAACTACCTGGCTGGTTCCATAAAAGCAGGAGGCCTGACAGGTTTGTAAAAGCTTCTGATTTCAGGCCGGGTGCGGTGGCTCATAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGCG... | CACACCCGGCCAAGTATTCTTTAATTTAGAAATGTAATGTTACCAGTTTTAGTCTATATTCTGCTTTGTGCTTATAAATGCAGGGAGGGTGGAGTGTTTGTGAGATCAGTCCTTACTCTAATGACATAATCTTATTAGCAGAAGTATTTTTGAGGAAGCTCCATTAGGGTGATTCAGATGCTGCTTGAGCTCAGGTGCTAACTACCTGGCTGGTTCCATAAAAGCAGGAGGCCTGACAGGTTTGTAAAAGCTTCTGATTTCAGGCCGGGTGCGGTGGCTCATAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGCG... | pathogenic | 103,866 |
The mutation impacting NSD1 (nuclear receptor binding SET domain protein 1) on chromosome 5 at position 177211066: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Sotos_syndrome'] | TAATGTTACCAGTTTTAGTCTATATTCTGCTTTGTGCTTATAAATGCAGGGAGGGTGGAGTGTTTGTGAGATCAGTCCTTACTCTAATGACATAATCTTATTAGCAGAAGTATTTTTGAGGAAGCTCCATTAGGGTGATTCAGATGCTGCTTGAGCTCAGGTGCTAACTACCTGGCTGGTTCCATAAAAGCAGGAGGCCTGACAGGTTTGTAAAAGCTTCTGATTTCAGGCCGGGTGCGGTGGCTCATAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGCGGATCACTTCAGGTCAGGAGTTTGAGACCAGCCTG... | TAATGTTACCAGTTTTAGTCTATATTCTGCTTTGTGCTTATAAATGCAGGGAGGGTGGAGTGTTTGTGAGATCAGTCCTTACTCTAATGACATAATCTTATTAGCAGAAGTATTTTTGAGGAAGCTCCATTAGGGTGATTCAGATGCTGCTTGAGCTCAGGTGCTAACTACCTGGCTGGTTCCATAAAAGCAGGAGGCCTGACAGGTTTGTAAAAGCTTCTGATTTCAGGCCGGGTGCGGTGGCTCATAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGCGGATCACTTCAGGTCAGGAGTTTGAGACCAGCCTG... | pathogenic | 103,868 |
Does the genetic variant at chromosome 5, position 177211156, impacting gene NSD1 (nuclear receptor binding SET domain protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Beckwith-Wiedemann_syndrome', 'Sotos_syndrome'] | CATAATCTTATTAGCAGAAGTATTTTTGAGGAAGCTCCATTAGGGTGATTCAGATGCTGCTTGAGCTCAGGTGCTAACTACCTGGCTGGTTCCATAAAAGCAGGAGGCCTGACAGGTTTGTAAAAGCTTCTGATTTCAGGCCGGGTGCGGTGGCTCATAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGCGGATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCTATTCTACTGAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGG... | CATAATCTTATTAGCAGAAGTATTTTTGAGGAAGCTCCATTAGGGTGATTCAGATGCTGCTTGAGCTCAGGTGCTAACTACCTGGCTGGTTCCATAAAAGCAGGAGGCCTGACAGGTTTGTAAAAGCTTCTGATTTCAGGCCGGGTGCGGTGGCTCATAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGCGGATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCTATTCTACTGAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGG... | pathogenic | 103,869 |
A genetic variant on chromosome 5, position 177211350, affects the gene NSD1 (nuclear receptor binding SET domain protein 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Sotos_syndrome'] | CGGATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCTATTCTACTGAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCGAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAGCTTCTGATTTCATCTCCCTTTTCCCCCACCCATTTCTTTGATAAGTGATAATTCTTTTTCT... | CGGATCACTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCTATTCTACTGAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCGAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAGCTTCTGATTTCATCTCCCTTTTCCCCCACCCATTTCTTTGATAAGTGATAATTCTTTTTCT... | pathogenic | 103,876 |
Assess the variant on chromosome 5, position 177211402, impacting NSD1 (nuclear receptor binding SET domain protein 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Sotos_syndrome'] | CCCTATTCTACTGAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCGAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAGCTTCTGATTTCATCTCCCTTTTCCCCCACCCATTTCTTTGATAAGTGATAATTCTTTTTCTCCTTTAAATTTAAGGTTCCTCAGAAAATTTTGAGTAAATGGGAAGCCAGTGT... | CCCTATTCTACTGAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCGAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAGCTTCTGATTTCATCTCCCTTTTCCCCCACCCATTTCTTTGATAAGTGATAATTCTTTTTCTCCTTTAAATTTAAGGTTCCTCAGAAAATTTTGAGTAAATGGGAAGCCAGTGT... | pathogenic | 103,879 |
Is the chromosome 5, position 177211441 variant in NSD1 (nuclear receptor binding SET domain protein 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Sotos_syndrome'] | GTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCGAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAGCTTCTGATTTCATCTCCCTTTTCCCCCACCCATTTCTTTGATAAGTGATAATTCTTTTTCTCCTTTAAATTTAAGGTTCCTCAGAAAATTTTGAGTAAATGGGAAGCCAGTGTTGGACTTGCAGAACAGTATGATGTTCCCAAGGGGTCAAA... | GTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCGAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAGCTTCTGATTTCATCTCCCTTTTCCCCCACCCATTTCTTTGATAAGTGATAATTCTTTTTCTCCTTTAAATTTAAGGTTCCTCAGAAAATTTTGAGTAAATGGGAAGCCAGTGTTGGACTTGCAGAACAGTATGATGTTCCCAAGGGGTCAAA... | pathogenic | 103,881 |
Variant in gene NSD1 (nuclear receptor binding SET domain protein 1), located at chromosome 5 position 177211777: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Sotos_syndrome'] | CCTGGTTCAATCAAGTTGGACAGTGAAGAAGATATGCCATTTGAAGACTGCACAAATGATCCTGAGTCAGAACATGACCTGTTGCTTAATGGCTGTTTGAAATCACTGGCTTTTGATTCTGAACATTCTGCAGATGAGAAGGAAAAGCCTTGCGCTAAATCTCGAGCCAGAAAGAGCTCTGATAATCCAAAAAGGACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGA... | CCTGGTTCAATCAAGTTGGACAGTGAAGAAGATATGCCATTTGAAGACTGCACAAATGATCCTGAGTCAGAACATGACCTGTTGCTTAATGGCTGTTTGAAATCACTGGCTTTTGATTCTGAACATTCTGCAGATGAGAAGGAAAAGCCTTGCGCTAAATCTCGAGCCAGAAAGAGCTCTGATAATCCAAAAAGGACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGA... | pathogenic | 103,895 |
For chromosome 5, position 177211780, gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Inborn_genetic_diseases'] | GGTTCAATCAAGTTGGACAGTGAAGAAGATATGCCATTTGAAGACTGCACAAATGATCCTGAGTCAGAACATGACCTGTTGCTTAATGGCTGTTTGAAATCACTGGCTTTTGATTCTGAACATTCTGCAGATGAGAAGGAAAAGCCTTGCGCTAAATCTCGAGCCAGAAAGAGCTCTGATAATCCAAAAAGGACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGAACT... | GGTTCAATCAAGTTGGACAGTGAAGAAGATATGCCATTTGAAGACTGCACAAATGATCCTGAGTCAGAACATGACCTGTTGCTTAATGGCTGTTTGAAATCACTGGCTTTTGATTCTGAACATTCTGCAGATGAGAAGGAAAAGCCTTGCGCTAAATCTCGAGCCAGAAAGAGCTCTGATAATCCAAAAAGGACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGAACT... | pathogenic | 103,896 |
Regarding the variant found on chromosome 5 at position 177211947 in gene NSD1 (nuclear receptor binding SET domain protein 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Sotos_syndrome'] | AAAGAGCTCTGATAATCCAAAAAGGACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGAACTTTCCAGGATAGCAAATAGCCTCACAGGGTCCAACACTGCCCCAGGAAGTTTTCTGTTTTCTTCCTGTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATGGTGACTCTTTATTGGGCTTGCCTGAGGGTGCTTTGATCTCAAAGTGTTCTCGAGAGAAGA... | AAAGAGCTCTGATAATCCAAAAAGGACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGAACTTTCCAGGATAGCAAATAGCCTCACAGGGTCCAACACTGCCCCAGGAAGTTTTCTGTTTTCTTCCTGTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATGGTGACTCTTTATTGGGCTTGCCTGAGGGTGCTTTGATCTCAAAGTGTTCTCGAGAGAAGA... | pathogenic | 103,899 |
A mutation at chromosome position 177211972 on chromosome 5 in gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic | ACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGAACTTTCCAGGATAGCAAATAGCCTCACAGGGTCCAACACTGCCCCAGGAAGTTTTCTGTTTTCTTCCTGTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATGGTGACTCTTTATTGGGCTTGCCTGAGGGTGCTTTGATCTCAAAGTGTTCTCGAGAGAAGAATAAACCCCAACGAAGCCTGGTGTG... | ACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGAACTTTCCAGGATAGCAAATAGCCTCACAGGGTCCAACACTGCCCCAGGAAGTTTTCTGTTTTCTTCCTGTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATGGTGACTCTTTATTGGGCTTGCCTGAGGGTGCTTTGATCTCAAAGTGTTCTCGAGAGAAGAATAAACCCCAACGAAGCCTGGTGTG... | pathogenic | 103,901 |
Considering the genetic mutation at chromosome 5, position 177212055, impacting NSD1 (nuclear receptor binding SET domain protein 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Beckwith-Wiedemann_syndrome', 'Sotos_syndrome'] | CTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGAACTTTCCAGGATAGCAAATAGCCTCACAGGGTCCAACACTGCCCCAGGAAGTTTTCTGTTTTCTTCCTGTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATGGTGACTCTTTATTGGGCTTGCCTGAGGGTGCTTTGATCTCAAAGTGTTCTCGAGAGAAGAATAAACCCCAACGAAGCCTGGTGTGTGGTTCAAAAGTGAAGCTCTGCTATATTGGAGCAGGTGATGAGGAAAAGCGAAGTGATTCCATTAGTATCTGTACCACTTCTG... | CTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAATGAACTTTCCAGGATAGCAAATAGCCTCACAGGGTCCAACACTGCCCCAGGAAGTTTTCTGTTTTCTTCCTGTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATGGTGACTCTTTATTGGGCTTGCCTGAGGGTGCTTTGATCTCAAAGTGTTCTCGAGAGAAGAATAAACCCCAACGAAGCCTGGTGTGTGGTTCAAAAGTGAAGCTCTGCTATATTGGAGCAGGTGATGAGGAAAAGCGAAGTGATTCCATTAGTATCTGTACCACTTCTG... | pathogenic | 103,904 |
Clinically, how would you classify the variant at chromosome 5, position 177239776, gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Sotos_syndrome'] | TTTCACCATGGTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTTCTGGAATTACAGGCGTGAGCCACCACGCCCAGCCTATTTTATCCATTTTTAAGTGTACAGTTCAGTAGCATGAAGCACAGTTAGATTGTTGTGCAACCATCTCCACCATCCATCTCGATAATTTTTTTCATCTTTCCAAATTAAAAATCAATACCCATTAACCAATAACTCCCTTTTCTGCTCAGCCCCTGGCAATTGCCATTCTATTTTCTGTCTCAAGAATTTTCTTATTCTAGATACCTCATATAC... | TTTCACCATGGTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTTCTGGAATTACAGGCGTGAGCCACCACGCCCAGCCTATTTTATCCATTTTTAAGTGTACAGTTCAGTAGCATGAAGCACAGTTAGATTGTTGTGCAACCATCTCCACCATCCATCTCGATAATTTTTTTCATCTTTCCAAATTAAAAATCAATACCCATTAACCAATAACTCCCTTTTCTGCTCAGCCCCTGGCAATTGCCATTCTATTTTCTGTCTCAAGAATTTTCTTATTCTAGATACCTCATATAC... | pathogenic | 103,919 |
Is chromosome 5, position 177239840, gene NSD1 (nuclear receptor binding SET domain protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Sotos_syndrome'] | CAAAGTTCTGGAATTACAGGCGTGAGCCACCACGCCCAGCCTATTTTATCCATTTTTAAGTGTACAGTTCAGTAGCATGAAGCACAGTTAGATTGTTGTGCAACCATCTCCACCATCCATCTCGATAATTTTTTTCATCTTTCCAAATTAAAAATCAATACCCATTAACCAATAACTCCCTTTTCTGCTCAGCCCCTGGCAATTGCCATTCTATTTTCTGTCTCAAGAATTTTCTTATTCTAGATACCTCATATACTTGAAATCATACGATATTTGTTCTTTGTGTCTTAAGTAATTTCCCTTAGCATACATAATGTCTT... | CAAAGTTCTGGAATTACAGGCGTGAGCCACCACGCCCAGCCTATTTTATCCATTTTTAAGTGTACAGTTCAGTAGCATGAAGCACAGTTAGATTGTTGTGCAACCATCTCCACCATCCATCTCGATAATTTTTTTCATCTTTCCAAATTAAAAATCAATACCCATTAACCAATAACTCCCTTTTCTGCTCAGCCCCTGGCAATTGCCATTCTATTTTCTGTCTCAAGAATTTTCTTATTCTAGATACCTCATATACTTGAAATCATACGATATTTGTTCTTTGTGTCTTAAGTAATTTCCCTTAGCATACATAATGTCTT... | pathogenic | 103,921 |
Located at chromosome 5 position 177239859, the variant affecting gene NSD1 (nuclear receptor binding SET domain protein 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Sotos_syndrome'] | GCGTGAGCCACCACGCCCAGCCTATTTTATCCATTTTTAAGTGTACAGTTCAGTAGCATGAAGCACAGTTAGATTGTTGTGCAACCATCTCCACCATCCATCTCGATAATTTTTTTCATCTTTCCAAATTAAAAATCAATACCCATTAACCAATAACTCCCTTTTCTGCTCAGCCCCTGGCAATTGCCATTCTATTTTCTGTCTCAAGAATTTTCTTATTCTAGATACCTCATATACTTGAAATCATACGATATTTGTTCTTTGTGTCTTAAGTAATTTCCCTTAGCATACATAATGTCTTCAAGGTTCATCCACTTTTT... | GCGTGAGCCACCACGCCCAGCCTATTTTATCCATTTTTAAGTGTACAGTTCAGTAGCATGAAGCACAGTTAGATTGTTGTGCAACCATCTCCACCATCCATCTCGATAATTTTTTTCATCTTTCCAAATTAAAAATCAATACCCATTAACCAATAACTCCCTTTTCTGCTCAGCCCCTGGCAATTGCCATTCTATTTTCTGTCTCAAGAATTTTCTTATTCTAGATACCTCATATACTTGAAATCATACGATATTTGTTCTTTGTGTCTTAAGTAATTTCCCTTAGCATACATAATGTCTTCAAGGTTCATCCACTTTTT... | pathogenic | 103,922 |
A mutation at chromosome position 177244270 on chromosome 5 in gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Sotos_syndrome'] | AACTGTTAAACAATGAACTAATTTGTTATCTAAATAAAATGATTGCTATTTTAAAAAAAATTACAGAAATGTATTTTGTGGATTTGTCTAGGAGTCTCGTTTTGTTGAATTGGATACCTGACATTTGCCCATTCATTTTACTTGAAATAGACTTCTGATATATAGTGAACGTGAGGAGAATTGCAGTCTTATGATTTATTAATATGATAAAATGAGCATTCAGAAATTCACAGCTGTATTTTATCTTGTTTTACTTCCAAACATTAGGAACTCTACAACAAAAATGGCCTTTATTATTTATTTATTTATTTATTTATTTA... | AACTGTTAAACAATGAACTAATTTGTTATCTAAATAAAATGATTGCTATTTTAAAAAAAATTACAGAAATGTATTTTGTGGATTTGTCTAGGAGTCTCGTTTTGTTGAATTGGATACCTGACATTTGCCCATTCATTTTACTTGAAATAGACTTCTGATATATAGTGAACGTGAGGAGAATTGCAGTCTTATGATTTATTAATATGATAAAATGAGCATTCAGAAATTCACAGCTGTATTTTATCTTGTTTTACTTCCAAACATTAGGAACTCTACAACAAAAATGGCCTTTATTATTTATTTATTTATTTATTTATTTA... | pathogenic | 103,923 |
Regarding the variant at chromosome 5 and position 177244282, affecting gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATGAACTAATTTGTTATCTAAATAAAATGATTGCTATTTTAAAAAAAATTACAGAAATGTATTTTGTGGATTTGTCTAGGAGTCTCGTTTTGTTGAATTGGATACCTGACATTTGCCCATTCATTTTACTTGAAATAGACTTCTGATATATAGTGAACGTGAGGAGAATTGCAGTCTTATGATTTATTAATATGATAAAATGAGCATTCAGAAATTCACAGCTGTATTTTATCTTGTTTTACTTCCAAACATTAGGAACTCTACAACAAAAATGGCCTTTATTATTTATTTATTTATTTATTTATTTATTTGAGACAGAG... | ATGAACTAATTTGTTATCTAAATAAAATGATTGCTATTTTAAAAAAAATTACAGAAATGTATTTTGTGGATTTGTCTAGGAGTCTCGTTTTGTTGAATTGGATACCTGACATTTGCCCATTCATTTTACTTGAAATAGACTTCTGATATATAGTGAACGTGAGGAGAATTGCAGTCTTATGATTTATTAATATGATAAAATGAGCATTCAGAAATTCACAGCTGTATTTTATCTTGTTTTACTTCCAAACATTAGGAACTCTACAACAAAAATGGCCTTTATTATTTATTTATTTATTTATTTATTTATTTGAGACAGAG... | benign | 103,925 |
Benign or pathogenic: chromosome 5, position 177248165, gene NSD1 (nuclear receptor binding SET domain protein 1) variant? Disease(s) if pathogenic? | benign | TGCACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGATTTCACTATGTTGGTCAGGCTGGTATCAAATTCCTGACCTCATGTGATCTGCCGGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCTTGAGCCACGGTGCCCAGTCCTTAATCTTTAAATCATATAGTGATTTGTATTATTGTCTCCAGTCTTGAAGTCTAGGGAGTGGTATCTTTTGATGACTAGTAAAATGCATTTCCCCTTCATCTATAGGATTTAATTCCTTTGAAGAACTACAAGATTTGTCATTTCAATCATATAAATTAAAATTTC... | TGCACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGATTTCACTATGTTGGTCAGGCTGGTATCAAATTCCTGACCTCATGTGATCTGCCGGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCTTGAGCCACGGTGCCCAGTCCTTAATCTTTAAATCATATAGTGATTTGTATTATTGTCTCCAGTCTTGAAGTCTAGGGAGTGGTATCTTTTGATGACTAGTAAAATGCATTTCCCCTTCATCTATAGGATTTAATTCCTTTGAAGAACTACAAGATTTGTCATTTCAATCATATAAATTAAAATTTC... | benign | 103,933 |
Does the genetic variant at chromosome 5, position 177248267, impacting gene NSD1 (nuclear receptor binding SET domain protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Sotos_syndrome'] | CTCAGCCTCTCAAAGTGCTGGGATTACAGGCTTGAGCCACGGTGCCCAGTCCTTAATCTTTAAATCATATAGTGATTTGTATTATTGTCTCCAGTCTTGAAGTCTAGGGAGTGGTATCTTTTGATGACTAGTAAAATGCATTTCCCCTTCATCTATAGGATTTAATTCCTTTGAAGAACTACAAGATTTGTCATTTCAATCATATAAATTAAAATTTCTGTAATAACCTATACACTTACTATTTAATCTATATGAGGGAGCAGTTACATATATGTAGCCATTTCCCTTCTTGTTATGTCATCATGAGTTAGTCTCAATTA... | CTCAGCCTCTCAAAGTGCTGGGATTACAGGCTTGAGCCACGGTGCCCAGTCCTTAATCTTTAAATCATATAGTGATTTGTATTATTGTCTCCAGTCTTGAAGTCTAGGGAGTGGTATCTTTTGATGACTAGTAAAATGCATTTCCCCTTCATCTATAGGATTTAATTCCTTTGAAGAACTACAAGATTTGTCATTTCAATCATATAAATTAAAATTTCTGTAATAACCTATACACTTACTATTTAATCTATATGAGGGAGCAGTTACATATATGTAGCCATTTCCCTTCTTGTTATGTCATCATGAGTTAGTCTCAATTA... | pathogenic | 103,938 |
Variant at chromosome 5, position 177248314, gene NSD1 (nuclear receptor binding SET domain protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | AGTCCTTAATCTTTAAATCATATAGTGATTTGTATTATTGTCTCCAGTCTTGAAGTCTAGGGAGTGGTATCTTTTGATGACTAGTAAAATGCATTTCCCCTTCATCTATAGGATTTAATTCCTTTGAAGAACTACAAGATTTGTCATTTCAATCATATAAATTAAAATTTCTGTAATAACCTATACACTTACTATTTAATCTATATGAGGGAGCAGTTACATATATGTAGCCATTTCCCTTCTTGTTATGTCATCATGAGTTAGTCTCAATTATTATTTCCCCCGTTTTCCTAATCCACAAAGCTGGAGAATTAAATGAG... | AGTCCTTAATCTTTAAATCATATAGTGATTTGTATTATTGTCTCCAGTCTTGAAGTCTAGGGAGTGGTATCTTTTGATGACTAGTAAAATGCATTTCCCCTTCATCTATAGGATTTAATTCCTTTGAAGAACTACAAGATTTGTCATTTCAATCATATAAATTAAAATTTCTGTAATAACCTATACACTTACTATTTAATCTATATGAGGGAGCAGTTACATATATGTAGCCATTTCCCTTCTTGTTATGTCATCATGAGTTAGTCTCAATTATTATTTCCCCCGTTTTCCTAATCCACAAAGCTGGAGAATTAAATGAG... | pathogenic | 103,939 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 177257228, gene NSD1 (nuclear receptor binding SET domain protein 1): what disease(s) if pathogenic? | benign | CTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTC... | CTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTC... | benign | 103,956 |
Regarding the variant found on chromosome 5 at position 177260038 in gene NSD1 (nuclear receptor binding SET domain protein 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Sotos_syndrome'] | TTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTG... | TTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTG... | pathogenic | 103,959 |
Evaluate if the mutation on chromosome 5 at position 177267691 in NSD1 (nuclear receptor binding SET domain protein 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Sotos_syndrome'] | TCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGGCAGAACGGGGAGGTGAAGGTCAGGTCTTCCACCTTGACGGTGTAGATGTCTACCTCCTTTATGAGGCAGGCGTTGGTAACCAGCTG... | TCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGGCAGAACGGGGAGGTGAAGGTCAGGTCTTCCACCTTGACGGTGTAGATGTCTACCTCCTTTATGAGGCAGGCGTTGGTAACCAGCTG... | pathogenic | 103,969 |
Variant at chromosome position 177273776, chromosome 5, gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Sotos_syndrome'] | CTAGATCCCTAGTTAGAGCAGAGTTTTAGAAACTTTAGCCTGGGACATTGTTGGGACCATTAAAAGGTGAGAGGCTGCAAGTGGGAAAATCAGTGAGATGGCTGTTTTAAGTAGTTTGGGGCAGAAATGACGAGACTCTGCTGGACACAGTGGCTAAAGCCTGTAATCCCAGCACTATGGGGTCAGGAGTTTGAGACCAGCCTAGCCAACACATTGAAACCCTGTCTCTACTAAAAATAAAAAAAAATTAGCTGGGCATGGTGATGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGAGGAAAATCGCTGGAACC... | CTAGATCCCTAGTTAGAGCAGAGTTTTAGAAACTTTAGCCTGGGACATTGTTGGGACCATTAAAAGGTGAGAGGCTGCAAGTGGGAAAATCAGTGAGATGGCTGTTTTAAGTAGTTTGGGGCAGAAATGACGAGACTCTGCTGGACACAGTGGCTAAAGCCTGTAATCCCAGCACTATGGGGTCAGGAGTTTGAGACCAGCCTAGCCAACACATTGAAACCCTGTCTCTACTAAAAATAAAAAAAAATTAGCTGGGCATGGTGATGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGAGGAAAATCGCTGGAACC... | pathogenic | 103,980 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 177283861, gene NSD1 (nuclear receptor binding SET domain protein 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Sotos_syndrome'] | TGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGG... | TGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGG... | pathogenic | 104,007 |
Does the genetic variant at chromosome 5, position 177288870, impacting gene NSD1 (nuclear receptor binding SET domain protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Sotos_syndrome'] | TCTCTTCTTTTTTTCCTGTGTTCATCAGCTCAGGTAGCTTGGTGTTGAAATTCTCAGACTCTTCCTCTCCTCACTTGACTTTCAGTCTGCATAGGTTCAGGATGGGGAAAATGAGACAGGATGTGCTAAGGGACAGGCAGAGTGCCTATCAGAGCTGAGGCCTTCATTCAACTTCCTGGGCCCTTCACATACCTGCAACTTACTGTCTCCCAAGTGTCCCATCCCTACTCTTGTTTATCTCTTCTCTCATGCTCTTTGCCATGCCCAGTAACTGAAGATCCATCAATGATTGCTGCATATTGAACTCTTTTCTAGAATGG... | TCTCTTCTTTTTTTCCTGTGTTCATCAGCTCAGGTAGCTTGGTGTTGAAATTCTCAGACTCTTCCTCTCCTCACTTGACTTTCAGTCTGCATAGGTTCAGGATGGGGAAAATGAGACAGGATGTGCTAAGGGACAGGCAGAGTGCCTATCAGAGCTGAGGCCTTCATTCAACTTCCTGGGCCCTTCACATACCTGCAACTTACTGTCTCCCAAGTGTCCCATCCCTACTCTTGTTTATCTCTTCTCTCATGCTCTTTGCCATGCCCAGTAACTGAAGATCCATCAATGATTGCTGCATATTGAACTCTTTTCTAGAATGG... | pathogenic | 104,009 |
Variant at chromosome position 177291982, chromosome 5, gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Sotos_syndrome'] | TCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTATATTTTTAGTAGAAACAGGGTTTCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACA... | TCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTATATTTTTAGTAGAAACAGGGTTTCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACA... | pathogenic | 104,013 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 177292057, gene NSD1 (nuclear receptor binding SET domain protein 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Sotos_syndrome'] | AGTAGAAACAGGGTTTCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATG... | AGTAGAAACAGGGTTTCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATG... | pathogenic | 104,016 |
Classify the chromosome 5 variant at position 177292115 affecting gene NSD1 (nuclear receptor binding SET domain protein 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Sotos_syndrome'] | ATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGC... | ATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGC... | pathogenic | 104,019 |
Is the genetic mutation found on chromosome 5 at position 177292125, within the gene NSD1 (nuclear receptor binding SET domain protein 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Sotos_syndrome'] | CTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAA... | CTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAA... | pathogenic | 104,022 |
Variant on chromosome 5, at position 177292131, affecting NSD1 (nuclear receptor binding SET domain protein 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Sotos_syndrome'] | CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTA... | CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTA... | pathogenic | 104,023 |
The genetic variant at chromosome 5, position 177293886, affecting gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Sotos_syndrome'] | TCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCA... | TCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCA... | pathogenic | 104,029 |
Clinical classification of chromosome 5, position 177295304, gene NSD1 (nuclear receptor binding SET domain protein 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Sotos_syndrome'] | TCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATAC... | TCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATAC... | pathogenic | 104,070 |
Variant at chromosome 5, position 177386116, gene SLC34A1 (solute carrier family 34 member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypercalcemia,_infantile,_2'] | ACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGAAGGCCATAGGATGTTTGGGTCATTCCCTGGGGAGTCCTGTCAGGCCAGGAACGAGGGGACCCTGGGAACAAGGTGCTGAGTGGCATCAGGGTCTCTGCCTGCAGGCGGGGGATGTGTCTGGGTCGTGGTTGATGGGAAGAACCTGACCATAGATTCCCCATGCAGAGCTGACGATTAGCAATTAACTGGGAGGAATCTCAGGGGTGAGGTTAATTGGGGGACAGAGGGAGGGCAGCTAGGGTTCCAGGGACTTTG... | ACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGAAGGCCATAGGATGTTTGGGTCATTCCCTGGGGAGTCCTGTCAGGCCAGGAACGAGGGGACCCTGGGAACAAGGTGCTGAGTGGCATCAGGGTCTCTGCCTGCAGGCGGGGGATGTGTCTGGGTCGTGGTTGATGGGAAGAACCTGACCATAGATTCCCCATGCAGAGCTGACGATTAGCAATTAACTGGGAGGAATCTCAGGGGTGAGGTTAATTGGGGGACAGAGGGAGGGCAGCTAGGGTTCCAGGGACTTTG... | pathogenic | 104,077 |
Variant on chromosome 5, at position 177386480, affecting SLC34A1 (solute carrier family 34 member 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercalcemia,_infantile,_2'] | GGGTCCTGGAGGCTTCATTGAGCTGCTGAGCAGAAGCTGAAACACAGAATTCTAAGGTGAGCCCAGGACCCTCACATCCCAACCCCACCCCCAGCTCTGAGTAGGAAACAGCCCAGCACCCCAGCCCCTTCATCTGTGTCCTATCTGCGCCCACCCCCACCGCGCCCCATATAACATGTCAGTCCAGCCAATCGCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTGGGCGGATCACCTGAGGTCGAGTTTGCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTA... | GGGTCCTGGAGGCTTCATTGAGCTGCTGAGCAGAAGCTGAAACACAGAATTCTAAGGTGAGCCCAGGACCCTCACATCCCAACCCCACCCCCAGCTCTGAGTAGGAAACAGCCCAGCACCCCAGCCCCTTCATCTGTGTCCTATCTGCGCCCACCCCCACCGCGCCCCATATAACATGTCAGTCCAGCCAATCGCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTGGGCGGATCACCTGAGGTCGAGTTTGCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTA... | pathogenic | 104,087 |
Regarding the variant at chromosome 5 and position 177386558, affecting gene SLC34A1 (solute carrier family 34 member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hypercalcemia,_infantile,_2'] | CCAACCCCACCCCCAGCTCTGAGTAGGAAACAGCCCAGCACCCCAGCCCCTTCATCTGTGTCCTATCTGCGCCCACCCCCACCGCGCCCCATATAACATGTCAGTCCAGCCAATCGCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTGGGCGGATCACCTGAGGTCGAGTTTGCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACT... | CCAACCCCACCCCCAGCTCTGAGTAGGAAACAGCCCAGCACCCCAGCCCCTTCATCTGTGTCCTATCTGCGCCCACCCCCACCGCGCCCCATATAACATGTCAGTCCAGCCAATCGCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTGGGCGGATCACCTGAGGTCGAGTTTGCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACT... | pathogenic | 104,090 |
A genetic alteration at chromosome 5, position 177403621, in gene F12 (coagulation factor XII)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ACGCCGCCGTGCCCGGCTAATTTCTTGTATTTTAGTAGAGACGGGGTTTCATCGTGTTGCCCAGGCTGGTTTCGAACTCCTGAGCAATCCACCTGCCTTGGCCTCTTAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGCTAAGTATTTCTAACCACGATTCTCAACCTTGGCTGTACATGGAATTATCTGGGGAGTTTTACAAATATACCACTACCCATGCCCCATCCCTAGACATACTGATTTAATTGGTCTGAGGTGGAACTTGGGCATAGATTGGCTCAAAACGCTCCCCAAGTGATCTTAATG... | ACGCCGCCGTGCCCGGCTAATTTCTTGTATTTTAGTAGAGACGGGGTTTCATCGTGTTGCCCAGGCTGGTTTCGAACTCCTGAGCAATCCACCTGCCTTGGCCTCTTAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGCTAAGTATTTCTAACCACGATTCTCAACCTTGGCTGTACATGGAATTATCTGGGGAGTTTTACAAATATACCACTACCCATGCCCCATCCCTAGACATACTGATTTAATTGGTCTGAGGTGGAACTTGGGCATAGATTGGCTCAAAACGCTCCCCAAGTGATCTTAATG... | benign | 104,125 |
Variant in F12 (coagulation factor XII), chromosome 5, position 177404176—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCC... | AGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCC... | benign | 104,129 |
Clinical classification of chromosome 5, position 177404176, gene F12 (coagulation factor XII): benign or pathogenic? Disease(s) if pathogenic? | benign | AGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCC... | AGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCC... | benign | 104,130 |
The mutation impacting DDX41 (DEAD-box helicase 41) on chromosome 5 at position 177512355: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Acute_myeloid_leukemia', 'DDX41-related_disorder', 'DDX41-related_hematologic_malignancy_predisposition_syndrome'] | CCCTTGACCACTCCACGCTGTCCGAGAGCTCAAAGGCCCTCACGGTATACACTCACGCTGGGCATCCAGTCCACATGGGACCCACAGCCCTGAATGGCCCCAACCACGTGAGTGTGGGTGGCAGGTCCCAGGGGGCCCCGGAGAGGTCACATGTTCATTTAAAGCTTTGCTTCCTGCTGGGGGCGCCTTTTGTTGGCTTGCCTAGCAAGATGCCAATAGCGGGGCTGTGTGTATACCTTTATTCTGGAACAGCCTCAGGTCATTCAGCACCACCTCTGGGAGAGAACATGGAAGAGGATAAGGAATGCCATTTGGGAATG... | CCCTTGACCACTCCACGCTGTCCGAGAGCTCAAAGGCCCTCACGGTATACACTCACGCTGGGCATCCAGTCCACATGGGACCCACAGCCCTGAATGGCCCCAACCACGTGAGTGTGGGTGGCAGGTCCCAGGGGGCCCCGGAGAGGTCACATGTTCATTTAAAGCTTTGCTTCCTGCTGGGGGCGCCTTTTGTTGGCTTGCCTAGCAAGATGCCAATAGCGGGGCTGTGTGTATACCTTTATTCTGGAACAGCCTCAGGTCATTCAGCACCACCTCTGGGAGAGAACATGGAAGAGGATAAGGAATGCCATTTGGGAATG... | pathogenic | 104,156 |
Regarding the variant at chromosome 5 and position 177512548, affecting gene DDX41 (DEAD-box helicase 41): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['DDX41-related_hematologic_malignancy_predisposition_syndrome'] | TGGCTTGCCTAGCAAGATGCCAATAGCGGGGCTGTGTGTATACCTTTATTCTGGAACAGCCTCAGGTCATTCAGCACCACCTCTGGGAGAGAACATGGAAGAGGATAAGGAATGCCATTTGGGAATGCACTTGGCCAGGAAATATGTCCTGAAGGCCTCCTGGCACCCAGCTCTGTGCCCACTGTGGCCCAAGCAGCCCTAAGCTCCGTCCACCTCAGACGCCACATCCTTTGCGTTCTCATCGCCATTTCAACAGTGAGGAAATCGGTGCTCAGAAAAATTAAGTAACTTGCCCAATGCCACATATCAAGTGACAAATA... | TGGCTTGCCTAGCAAGATGCCAATAGCGGGGCTGTGTGTATACCTTTATTCTGGAACAGCCTCAGGTCATTCAGCACCACCTCTGGGAGAGAACATGGAAGAGGATAAGGAATGCCATTTGGGAATGCACTTGGCCAGGAAATATGTCCTGAAGGCCTCCTGGCACCCAGCTCTGTGCCCACTGTGGCCCAAGCAGCCCTAAGCTCCGTCCACCTCAGACGCCACATCCTTTGCGTTCTCATCGCCATTTCAACAGTGAGGAAATCGGTGCTCAGAAAAATTAAGTAACTTGCCCAATGCCACATATCAAGTGACAAATA... | pathogenic | 104,160 |
Variant chromosome 5, position 177512548, gene DDX41 (DEAD-box helicase 41): benign or pathogenic? Disease(s)? | pathogenic; ['DDX41-related_hematologic_malignancy_predisposition_syndrome'] | TGGCTTGCCTAGCAAGATGCCAATAGCGGGGCTGTGTGTATACCTTTATTCTGGAACAGCCTCAGGTCATTCAGCACCACCTCTGGGAGAGAACATGGAAGAGGATAAGGAATGCCATTTGGGAATGCACTTGGCCAGGAAATATGTCCTGAAGGCCTCCTGGCACCCAGCTCTGTGCCCACTGTGGCCCAAGCAGCCCTAAGCTCCGTCCACCTCAGACGCCACATCCTTTGCGTTCTCATCGCCATTTCAACAGTGAGGAAATCGGTGCTCAGAAAAATTAAGTAACTTGCCCAATGCCACATATCAAGTGACAAATA... | TGGCTTGCCTAGCAAGATGCCAATAGCGGGGCTGTGTGTATACCTTTATTCTGGAACAGCCTCAGGTCATTCAGCACCACCTCTGGGAGAGAACATGGAAGAGGATAAGGAATGCCATTTGGGAATGCACTTGGCCAGGAAATATGTCCTGAAGGCCTCCTGGCACCCAGCTCTGTGCCCACTGTGGCCCAAGCAGCCCTAAGCTCCGTCCACCTCAGACGCCACATCCTTTGCGTTCTCATCGCCATTTCAACAGTGAGGAAATCGGTGCTCAGAAAAATTAAGTAACTTGCCCAATGCCACATATCAAGTGACAAATA... | pathogenic | 104,161 |
A genetic alteration at chromosome 5, position 177512784, in gene DDX41 (DEAD-box helicase 41)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | TCTCATCGCCATTTCAACAGTGAGGAAATCGGTGCTCAGAAAAATTAAGTAACTTGCCCAATGCCACATATCAAGTGACAAATATGGCTTGAGCAACCGCTGTCTCACTGGAATGAGCATGTGGCCATACATGCAAAGTGCCTGGCTCAGAGGAAGTGTGGCCGCCTGTGCCGTCCCTGCCTACCTCTCACCAGATGCTGAGATCCTGCCTCATCTGCTAGCGGTCTTGTGACTGCCGTCCACGTTTCTGCGTGTGCGTCTTTCTCTCCCCTCGCCTGACGGCTTCCCAGGCAGCCATCTCCCTGGCCCATCTAGGTCCT... | TCTCATCGCCATTTCAACAGTGAGGAAATCGGTGCTCAGAAAAATTAAGTAACTTGCCCAATGCCACATATCAAGTGACAAATATGGCTTGAGCAACCGCTGTCTCACTGGAATGAGCATGTGGCCATACATGCAAAGTGCCTGGCTCAGAGGAAGTGTGGCCGCCTGTGCCGTCCCTGCCTACCTCTCACCAGATGCTGAGATCCTGCCTCATCTGCTAGCGGTCTTGTGACTGCCGTCCACGTTTCTGCGTGTGCGTCTTTCTCTCCCCTCGCCTGACGGCTTCCCAGGCAGCCATCTCCCTGGCCCATCTAGGTCCT... | pathogenic | 104,165 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 177513835, gene DDX41 (DEAD-box helicase 41). What disease(s) is it linked to if pathogenic? | pathogenic; ['DDX41-related_disorder', 'DDX41-related_hematologic_malignancy_predisposition_syndrome', 'Inborn_genetic_diseases'] | CGGCTCAGAAGTCCATGGAGCTGTGGGCCAGGTAGTCCTTGCGACCGATGTTGCTGACCTGCTTGGTCTGCATAGCCTCGAGTTTGGGGCAGTCAGTGATCCGATGACCCAGGCCCCCGCAGAAGGCACAGCCGCGCTCTCCTGGGGGAATGGGGACAGGGGTCAGCCAAGTCAAGGACCAGGATCCATGCCCTGGACTTCGGGCCCCCCGTTAGGCACCCTCGGTCCACCGGTTTCACGTTTCTGACTTCCAGCACCCCTCCTTGCCACCTGCCGGCTGGGGACTCGGGGATCCCGCTCTGCAGTCACCTCCAATGTCC... | CGGCTCAGAAGTCCATGGAGCTGTGGGCCAGGTAGTCCTTGCGACCGATGTTGCTGACCTGCTTGGTCTGCATAGCCTCGAGTTTGGGGCAGTCAGTGATCCGATGACCCAGGCCCCCGCAGAAGGCACAGCCGCGCTCTCCTGGGGGAATGGGGACAGGGGTCAGCCAAGTCAAGGACCAGGATCCATGCCCTGGACTTCGGGCCCCCCGTTAGGCACCCTCGGTCCACCGGTTTCACGTTTCTGACTTCCAGCACCCCTCCTTGCCACCTGCCGGCTGGGGACTCGGGGATCCCGCTCTGCAGTCACCTCCAATGTCC... | pathogenic | 104,195 |
Gene mutation in DDX41 (DEAD-box helicase 41) at chromosome 5, position 177514788—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['DDX41-related_hematologic_malignancy_predisposition_syndrome', 'Inborn_genetic_diseases'] | ACTGCAGCAGGGTCCAAGCCAGTGCTTGCACCACCCTGACCTTTGCCCCCATGGATGGCTACGGCCTCAACCCCCTTGAGCAGCAGGTACTCGTGGATGGCGTCCACGTCTGCCTTCTTCTCTGCAAAGATGAGTACCTGTCCGGAAAGACCAACTCCAGTCAGGGGCTAACTGCCTGGGCACCCACCGCACCTCCCCTGGCACTCTGTCCCCTCCAAAGCCCTCCCTGGTCCTGGGGACTCTGGCCCCGGCCTGGCCTGGCTGCACTCACAGGCGGGGGTGTCTTCTGCAGGCACTCGAGCAGGTACACCATCTTGGCC... | ACTGCAGCAGGGTCCAAGCCAGTGCTTGCACCACCCTGACCTTTGCCCCCATGGATGGCTACGGCCTCAACCCCCTTGAGCAGCAGGTACTCGTGGATGGCGTCCACGTCTGCCTTCTTCTCTGCAAAGATGAGTACCTGTCCGGAAAGACCAACTCCAGTCAGGGGCTAACTGCCTGGGCACCCACCGCACCTCCCCTGGCACTCTGTCCCCTCCAAAGCCCTCCCTGGTCCTGGGGACTCTGGCCCCGGCCTGGCCTGGCTGCACTCACAGGCGGGGGTGTCTTCTGCAGGCACTCGAGCAGGTACACCATCTTGGCC... | pathogenic | 104,202 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 177514831, gene DDX41 (DEAD-box helicase 41). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | TGCCCCCATGGATGGCTACGGCCTCAACCCCCTTGAGCAGCAGGTACTCGTGGATGGCGTCCACGTCTGCCTTCTTCTCTGCAAAGATGAGTACCTGTCCGGAAAGACCAACTCCAGTCAGGGGCTAACTGCCTGGGCACCCACCGCACCTCCCCTGGCACTCTGTCCCCTCCAAAGCCCTCCCTGGTCCTGGGGACTCTGGCCCCGGCCTGGCCTGGCTGCACTCACAGGCGGGGGTGTCTTCTGCAGGCACTCGAGCAGGTACACCATCTTGGCCTCCTCCTTCACATATTCTACCTCCTGCCACCACAAAGATCAGG... | TGCCCCCATGGATGGCTACGGCCTCAACCCCCTTGAGCAGCAGGTACTCGTGGATGGCGTCCACGTCTGCCTTCTTCTCTGCAAAGATGAGTACCTGTCCGGAAAGACCAACTCCAGTCAGGGGCTAACTGCCTGGGCACCCACCGCACCTCCCCTGGCACTCTGTCCCCTCCAAAGCCCTCCCTGGTCCTGGGGACTCTGGCCCCGGCCTGGCCTGGCTGCACTCACAGGCGGGGGTGTCTTCTGCAGGCACTCGAGCAGGTACACCATCTTGGCCTCCTCCTTCACATATTCTACCTCCTGCCACCACAAAGATCAGG... | pathogenic | 104,203 |
Clinically, how would you classify the variant at chromosome 5, position 177515822, gene DDX41 (DEAD-box helicase 41): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['DDX41-related_hematologic_malignancy_predisposition_syndrome'] | TGTCTAGGCTGACCATCTTCTTCTGCAGCAAATCCATGAGGCGCCCCGGGGTGGCCACCATCATGTGTACACCGCTGGGGACCAAGGAGAGACCCTGAGGTTGGGGCCACTGGCCTATCACCTATCTAGAGGCAAGCAGGCACCCTGCATCTGCTCTGCTCTCTGTCCTCCTTCCTATTTCTTTGTCTGTCCCCTTCTCATCATTCCCACCACCTGCCCTATGTATAGCACACAGCTCTTTCCCAAGGCACTGCAGCCATCTTCACCACCGCTCGGCCTGGCGCGCCTTCCCCCTTCTCCTGGGTCAGCCTCTCACCCAG... | TGTCTAGGCTGACCATCTTCTTCTGCAGCAAATCCATGAGGCGCCCCGGGGTGGCCACCATCATGTGTACACCGCTGGGGACCAAGGAGAGACCCTGAGGTTGGGGCCACTGGCCTATCACCTATCTAGAGGCAAGCAGGCACCCTGCATCTGCTCTGCTCTCTGTCCTCCTTCCTATTTCTTTGTCTGTCCCCTTCTCATCATTCCCACCACCTGCCCTATGTATAGCACACAGCTCTTTCCCAAGGCACTGCAGCCATCTTCACCACCGCTCGGCCTGGCGCGCCTTCCCCCTTCTCCTGGGTCAGCCTCTCACCCAG... | pathogenic | 104,226 |
Gene mutation in DDX41 (DEAD-box helicase 41) at chromosome 5, position 177515944—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Acute_myeloid_leukemia', 'DDX41-related_disorder', 'DDX41-related_hematologic_malignancy_predisposition_syndrome', 'Inborn_genetic_diseases'] | TATCTAGAGGCAAGCAGGCACCCTGCATCTGCTCTGCTCTCTGTCCTCCTTCCTATTTCTTTGTCTGTCCCCTTCTCATCATTCCCACCACCTGCCCTATGTATAGCACACAGCTCTTTCCCAAGGCACTGCAGCCATCTTCACCACCGCTCGGCCTGGCGCGCCTTCCCCCTTCTCCTGGGTCAGCCTCTCACCCAGAAGCGCTGTCATCAAGCTCCAGAGGCTTTACTCTGGGCTCGCTTTCCTGGCCCACTGGCTTCACCTTTTCTGTGCTCACCATCTCCCTAATACTCAGAAGTCCGTGGAGGAAGGCCTCCGGG... | TATCTAGAGGCAAGCAGGCACCCTGCATCTGCTCTGCTCTCTGTCCTCCTTCCTATTTCTTTGTCTGTCCCCTTCTCATCATTCCCACCACCTGCCCTATGTATAGCACACAGCTCTTTCCCAAGGCACTGCAGCCATCTTCACCACCGCTCGGCCTGGCGCGCCTTCCCCCTTCTCCTGGGTCAGCCTCTCACCCAGAAGCGCTGTCATCAAGCTCCAGAGGCTTTACTCTGGGCTCGCTTTCCTGGCCCACTGGCTTCACCTTTTCTGTGCTCACCATCTCCCTAATACTCAGAAGTCCGTGGAGGAAGGCCTCCGGG... | pathogenic | 104,229 |
Gene DDX41 (DEAD-box helicase 41) variant at chromosome position 177516185 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['DDX41-related_hematologic_malignancy_predisposition_syndrome', 'Inborn_genetic_diseases'] | TTCCTGGCCCACTGGCTTCACCTTTTCTGTGCTCACCATCTCCCTAATACTCAGAAGTCCGTGGAGGAAGGCCTCCGGGATGGGGTCTGGCCCATCTGTGAACAGAGGGCCTGGTCCAGGGCCTCTGGTGGTCTGCAGAGGACTGCACAGCACTGAAAGGACACAGGTGCCGCTGGGATCCAGCCCTACCCCAGTGCCTCAACCTCCTTGACTGACCACTGAATGACCCTGACCTTCCTGGGCCGTCCGCCTCTGTGCTTTCAGCCTGGACTGCCCCTCTTCCCAATTCAAATGTCACCTTCCCGGAAAAGCCTTCTCTG... | TTCCTGGCCCACTGGCTTCACCTTTTCTGTGCTCACCATCTCCCTAATACTCAGAAGTCCGTGGAGGAAGGCCTCCGGGATGGGGTCTGGCCCATCTGTGAACAGAGGGCCTGGTCCAGGGCCTCTGGTGGTCTGCAGAGGACTGCACAGCACTGAAAGGACACAGGTGCCGCTGGGATCCAGCCCTACCCCAGTGCCTCAACCTCCTTGACTGACCACTGAATGACCCTGACCTTCCTGGGCCGTCCGCCTCTGTGCTTTCAGCCTGGACTGCCCCTCTTCCCAATTCAAATGTCACCTTCCCGGAAAAGCCTTCTCTG... | pathogenic | 104,233 |
A genetic variant on chromosome 5, position 177516353, affects the gene DDX41 (DEAD-box helicase 41). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['DDX41-related_hematologic_malignancy_predisposition_syndrome'] | GCCGCTGGGATCCAGCCCTACCCCAGTGCCTCAACCTCCTTGACTGACCACTGAATGACCCTGACCTTCCTGGGCCGTCCGCCTCTGTGCTTTCAGCCTGGACTGCCCCTCTTCCCAATTCAAATGTCACCTTCCCGGAAAAGCCTTCTCTGAGCTCCCACCTCCCAGATGTCCCCAGCAAGGTGGGCCATTCCATCTGCCGTGCTCCCACAGTACCTGGCCACATCCCTCTGTCCTCCCCCAACTAACCTCCCCATTAGACTGGGAGCTCCTTGAGGGTCGCACTCACAGCAGCCCTCTGTGAAGATCTGTGGAGTGGC... | GCCGCTGGGATCCAGCCCTACCCCAGTGCCTCAACCTCCTTGACTGACCACTGAATGACCCTGACCTTCCTGGGCCGTCCGCCTCTGTGCTTTCAGCCTGGACTGCCCCTCTTCCCAATTCAAATGTCACCTTCCCGGAAAAGCCTTCTCTGAGCTCCCACCTCCCAGATGTCCCCAGCAAGGTGGGCCATTCCATCTGCCGTGCTCCCACAGTACCTGGCCACATCCCTCTGTCCTCCCCCAACTAACCTCCCCATTAGACTGGGAGCTCCTTGAGGGTCGCACTCACAGCAGCCCTCTGTGAAGATCTGTGGAGTGGC... | pathogenic | 104,237 |
Is the genetic mutation found on chromosome 5 at position 177516913, within the gene DDX41 (DEAD-box helicase 41), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCAGATGGCAGCCCCAATCTCTGGCCTGCCCTCCAGGCCAGCCTATCTTACCGAGGGGCAGATGATGAGTCCATAGGGCCCCTCGCGCTTTGAGAAGGGTAACCTCTTCTCTTGTTCCAGGCAGAACATGATGACGGGCAACGTGAACACCAGTGTCTTGCCTGAACCCGTGAAAGCGATGCCTATCATGTCACGGCCAGATAGACTGTTGGGAGAGGATGACCCGAGGGCCAATTTCAACAGAAGATGAAGGACACCTAGCCATTGCTCCTCCCTGTTCCAGCCCTCCTCAAGGACCCCAGGTCCACAGTCCACACTCA... | CCAGATGGCAGCCCCAATCTCTGGCCTGCCCTCCAGGCCAGCCTATCTTACCGAGGGGCAGATGATGAGTCCATAGGGCCCCTCGCGCTTTGAGAAGGGTAACCTCTTCTCTTGTTCCAGGCAGAACATGATGACGGGCAACGTGAACACCAGTGTCTTGCCTGAACCCGTGAAAGCGATGCCTATCATGTCACGGCCAGATAGACTGTTGGGAGAGGATGACCCGAGGGCCAATTTCAACAGAAGATGAAGGACACCTAGCCATTGCTCCTCCCTGTTCCAGCCCTCCTCAAGGACCCCAGGTCCACAGTCCACACTCA... | benign | 104,252 |
Variant on chromosome 5, at position 177992760, affecting PROP1 (PROP paired-like homeobox 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | ACTCAGTCCCAAGAAAAAAAAAAAAAAATTCTTCTGTGAAGTGCTGTGAGCACGAGAATGCCGGCTGACAGCCACCACTGCTGCCATCACCATCCACCTCCCTCCAGGGGCTTCATTCTTCACTTCATCGAGCTGCCTCCCCGTCCCTTGTCCCTACCCCTTGCCCTGCTTCTGCAGGAGGTAACCCTGCTGAGGGTCGGGGAGCAGGGCTGCAGGCACAGGGAAACTTCCTTCCCACTAAATGGGTAGCAGGGATGGGACAGGGAAGAGGAGTTGGAAGAGAGGAGAGAGATGAAAGAGGGAGGGGAAAAAAACCAAGA... | ACTCAGTCCCAAGAAAAAAAAAAAAAAATTCTTCTGTGAAGTGCTGTGAGCACGAGAATGCCGGCTGACAGCCACCACTGCTGCCATCACCATCCACCTCCCTCCAGGGGCTTCATTCTTCACTTCATCGAGCTGCCTCCCCGTCCCTTGTCCCTACCCCTTGCCCTGCTTCTGCAGGAGGTAACCCTGCTGAGGGTCGGGGAGCAGGGCTGCAGGCACAGGGAAACTTCCTTCCCACTAAATGGGTAGCAGGGATGGGACAGGGAAGAGGAGTTGGAAGAGAGGAGAGAGATGAAAGAGGGAGGGGAAAAAAACCAAGA... | pathogenic | 104,291 |
Classify the chromosome 5 variant at position 177992832 affecting gene PROP1 (PROP paired-like homeobox 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | CACCACTGCTGCCATCACCATCCACCTCCCTCCAGGGGCTTCATTCTTCACTTCATCGAGCTGCCTCCCCGTCCCTTGTCCCTACCCCTTGCCCTGCTTCTGCAGGAGGTAACCCTGCTGAGGGTCGGGGAGCAGGGCTGCAGGCACAGGGAAACTTCCTTCCCACTAAATGGGTAGCAGGGATGGGACAGGGAAGAGGAGTTGGAAGAGAGGAGAGAGATGAAAGAGGGAGGGGAAAAAAACCAAGAATAAAAATCATATCTAGAGGCACATGAAAAAATAAAAATTAAATATTAAAAAAATCAGGCCTGGCGCAGTGG... | CACCACTGCTGCCATCACCATCCACCTCCCTCCAGGGGCTTCATTCTTCACTTCATCGAGCTGCCTCCCCGTCCCTTGTCCCTACCCCTTGCCCTGCTTCTGCAGGAGGTAACCCTGCTGAGGGTCGGGGAGCAGGGCTGCAGGCACAGGGAAACTTCCTTCCCACTAAATGGGTAGCAGGGATGGGACAGGGAAGAGGAGTTGGAAGAGAGGAGAGAGATGAAAGAGGGAGGGGAAAAAAACCAAGAATAAAAATCATATCTAGAGGCACATGAAAAAATAAAAATTAAATATTAAAAAAATCAGGCCTGGCGCAGTGG... | pathogenic | 104,293 |
Does the variant impacting PROP1 (PROP paired-like homeobox 1) on chromosome 5, position 177992998, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | TAAATGGGTAGCAGGGATGGGACAGGGAAGAGGAGTTGGAAGAGAGGAGAGAGATGAAAGAGGGAGGGGAAAAAAACCAAGAATAAAAATCATATCTAGAGGCACATGAAAAAATAAAAATTAAATATTAAAAAAATCAGGCCTGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTCGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCACACCCTGTAATCCCAGCTACTCGGGAGG... | TAAATGGGTAGCAGGGATGGGACAGGGAAGAGGAGTTGGAAGAGAGGAGAGAGATGAAAGAGGGAGGGGAAAAAAACCAAGAATAAAAATCATATCTAGAGGCACATGAAAAAATAAAAATTAAATATTAAAAAAATCAGGCCTGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTCGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCACACCCTGTAATCCCAGCTACTCGGGAGG... | pathogenic | 104,295 |
Located at chromosome 5 position 177993002, the variant affecting gene PROP1 (PROP paired-like homeobox 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | TGGGTAGCAGGGATGGGACAGGGAAGAGGAGTTGGAAGAGAGGAGAGAGATGAAAGAGGGAGGGGAAAAAAACCAAGAATAAAAATCATATCTAGAGGCACATGAAAAAATAAAAATTAAATATTAAAAAAATCAGGCCTGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTCGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCACACCCTGTAATCCCAGCTACTCGGGAGGCTTA... | TGGGTAGCAGGGATGGGACAGGGAAGAGGAGTTGGAAGAGAGGAGAGAGATGAAAGAGGGAGGGGAAAAAAACCAAGAATAAAAATCATATCTAGAGGCACATGAAAAAATAAAAATTAAATATTAAAAAAATCAGGCCTGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTCGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCACACCCTGTAATCCCAGCTACTCGGGAGGCTTA... | pathogenic | 104,296 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 177994137, gene PROP1 (PROP paired-like homeobox 1): what disease(s) if pathogenic? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGTCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCAC... | CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGTCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCAC... | pathogenic | 104,303 |
Considering the variant on chromosome 5, location 177994145, involving gene PROP1 (PROP paired-like homeobox 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['46,XY_partial_gonadal_dysgenesis', 'Combined_pituitary_hormone_deficiencies,_genetic_form', 'PROP1-related_disorder', 'Pituitary_hormone_deficiency,_combined,_2'] | CCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGTCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGC... | CCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGTCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGC... | pathogenic | 104,304 |
The genetic variant at chromosome 5, position 177994291, affecting gene PROP1 (PROP paired-like homeobox 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | TATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCAT... | TATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCAT... | pathogenic | 104,310 |
Is the genetic mutation found on chromosome 5 at position 177994297, within the gene PROP1 (PROP paired-like homeobox 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | TAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTC... | TAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTC... | pathogenic | 104,312 |
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