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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 1, position 111780319, gene KCND3 (potassium voltage-gated channel subfamily D member 3) variant? Disease(s) if pathogenic? | benign | ACTGGAAGCCTGAGCTGGTGCTGGGTGTGACAGCAGAGGTAGGAGGAGCCCCAGAAGAATCAGCAGCACATGCACAGAACCAGGCCGGGGGGTAAAAAGGGGAGAATCCACAGACTCAGAATTATCAGAGAGAAAAACATCAATTGAATTTTTAAAAAGTTATACCTTGATGGTGGAGGTTCGTACAGATAACAGGGGATCATCCACAAGATAGGACAACCCCTACAGGACAACATGCCAACAGAAGATAAAAACACCATTGATTGTACATTCCAGCATTCCCAAGCCAGTTTTGACATTCAATCTCTTGATCCCGGCAT... | ACTGGAAGCCTGAGCTGGTGCTGGGTGTGACAGCAGAGGTAGGAGGAGCCCCAGAAGAATCAGCAGCACATGCACAGAACCAGGCCGGGGGGTAAAAAGGGGAGAATCCACAGACTCAGAATTATCAGAGAGAAAAACATCAATTGAATTTTTAAAAAGTTATACCTTGATGGTGGAGGTTCGTACAGATAACAGGGGATCATCCACAAGATAGGACAACCCCTACAGGACAACATGCCAACAGAAGATAAAAACACCATTGATTGTACATTCCAGCATTCCCAAGCCAGTTTTGACATTCAATCTCTTGATCCCGGCAT... | benign | 13,197 |
Assess the variant on chromosome 1, position 111982044, impacting KCND3 (potassium voltage-gated channel subfamily D member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Spinocerebellar_ataxia_type_19/22'] | TGAGGTCCCCTTCAGGAAGGTGAAGGGATGGCTAGGGTCAGCCTAAAAGGGATAAAGACGACCTCTTGACAGCACAAGCTCTCCAGTCCATTTTATCTCCAAAATACCCCACTGTGCCAAAAAGCCCACATCTGCCACCTGAGCCAAGAGAAACAAGGTCAAATGACCAAACATTCTTACCCACTCTGGGTGAGCAGCCATTTGAAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTGGAGTGGGAGGAAGGGGCAGGGTGGTTCTGTCAGACAGATAAGAAGTAAAGGGAATGCCCCAATCAAATGTGG... | TGAGGTCCCCTTCAGGAAGGTGAAGGGATGGCTAGGGTCAGCCTAAAAGGGATAAAGACGACCTCTTGACAGCACAAGCTCTCCAGTCCATTTTATCTCCAAAATACCCCACTGTGCCAAAAAGCCCACATCTGCCACCTGAGCCAAGAGAAACAAGGTCAAATGACCAAACATTCTTACCCACTCTGGGTGAGCAGCCATTTGAAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTGGAGTGGGAGGAAGGGGCAGGGTGGTTCTGTCAGACAGATAAGAAGTAAAGGGAATGCCCCAATCAAATGTGG... | pathogenic | 13,244 |
A genetic variant at chromosome 1, position 112917655, affecting gene SLC16A1 (solute carrier family 16 member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ketoacidosis_due_to_monocarboxylate_transporter-1_deficiency', 'Metabolic_myopathy_due_to_lactate_transporter_defect', 'Monocarboxylate_transporter_1_deficiency,_autosomal_dominant'] | AACTGATACAGGTAGACCAGTTAGGAGGTTACAGTTAGGAGCAGCCCAAACAGGAGACAGGAGCTTTGGATAAGGGTAGTAGTTGTGATGGAGAAAAATGGGCAGATGAGAACAAGATTTAGAGCATAAAAACTCATAGAACTTAGTAACTCACTGGGTATGAGATGGAAGAAGACAGTGATCTCAAAAGGCAGCTATGGATCTTCTGTTATATACTCACTCACTCCCCAAATCAAAGTTCCTAAAGTATGAGTCACATCCAGAAGAAGGGTCAAATTATTTTTTCACTATGTGTTATGTATTGAGCTATTAATTTGAAA... | AACTGATACAGGTAGACCAGTTAGGAGGTTACAGTTAGGAGCAGCCCAAACAGGAGACAGGAGCTTTGGATAAGGGTAGTAGTTGTGATGGAGAAAAATGGGCAGATGAGAACAAGATTTAGAGCATAAAAACTCATAGAACTTAGTAACTCACTGGGTATGAGATGGAAGAAGACAGTGATCTCAAAAGGCAGCTATGGATCTTCTGTTATATACTCACTCACTCCCCAAATCAAAGTTCCTAAAGTATGAGTCACATCCAGAAGAAGGGTCAAATTATTTTTTCACTATGTGTTATGTATTGAGCTATTAATTTGAAA... | pathogenic | 13,303 |
Determine whether the variant at chromosome 1, position 112918054, in gene SLC16A1 (solute carrier family 16 member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAAC... | TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAAC... | benign | 13,304 |
Is the genetic mutation found on chromosome 1 at position 112918054, within the gene SLC16A1 (solute carrier family 16 member 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAAC... | TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAAC... | benign | 13,305 |
Clinical significance of chromosome 1, position 112918057, gene SLC16A1 (solute carrier family 16 member 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGT... | ACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGT... | benign | 13,306 |
Clinically, how would you classify the variant at chromosome 1, position 112956232, gene SLC16A1: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TCTTAATCTTGCATAGGAGTGAGCATTATAAAGTGAATTGAAAACACGATGGGAATGCAGAACATAAGGAGCTGAGAAATCTATTTTCAGGCTGAGATAATTTGTATCCAAATTTACAATCTAAAGAAAAATCAGGAGTGCCAATCTAACAAAAATGAGTCCAAAGACACACATAGTTCCCACCAAACCATAACAAGTTTTCAGACCTAAGATGTTAGATCACTTAATCCCTCCAGCCCCAGTTTCCTTATGTGTAAAACAAGGGATCCTGATCAGCTGGTCATTAGGATCCTTTCCAGGGCTAATATATGCCCTAATAT... | TCTTAATCTTGCATAGGAGTGAGCATTATAAAGTGAATTGAAAACACGATGGGAATGCAGAACATAAGGAGCTGAGAAATCTATTTTCAGGCTGAGATAATTTGTATCCAAATTTACAATCTAAAGAAAAATCAGGAGTGCCAATCTAACAAAAATGAGTCCAAAGACACACATAGTTCCCACCAAACCATAACAAGTTTTCAGACCTAAGATGTTAGATCACTTAATCCCTCCAGCCCCAGTTTCCTTATGTGTAAAACAAGGGATCCTGATCAGCTGGTCATTAGGATCCTTTCCAGGGCTAATATATGCCCTAATAT... | benign | 13,314 |
Evaluate the clinical significance of the mutation at chromosome 1, position 113116443 in gene LRIG2 (leucine rich repeats and immunoglobulin like domains 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CATTTTTTTTTTTTTTAATGTTTTCCTGTTAGAGACACCCTCATTTATTAGACCCCTGGAGGATAAGACAGTAACACGAGGTGAAACTGCGGTGTTACAGTGCATAGCTGGAGGGAGTCCTGCCCCTCGTCTCAACTGGACTAAAGATGATGGGCCTTTGCTGGTGACAGAACGACATTTCTTTGCTGCAGCCAATCAGCTTCTCATCATTGTAGATGCCGGGCTAGAAGATGCTGGGAAATATACCTGCATTATGTCTAACACCCTTGGGACAGAACGTGGCCACATTTACCTAAATGTCATTTCATCCCCCAATTGTG... | CATTTTTTTTTTTTTTAATGTTTTCCTGTTAGAGACACCCTCATTTATTAGACCCCTGGAGGATAAGACAGTAACACGAGGTGAAACTGCGGTGTTACAGTGCATAGCTGGAGGGAGTCCTGCCCCTCGTCTCAACTGGACTAAAGATGATGGGCCTTTGCTGGTGACAGAACGACATTTCTTTGCTGCAGCCAATCAGCTTCTCATCATTGTAGATGCCGGGCTAGAAGATGCTGGGAAATATACCTGCATTATGTCTAACACCCTTGGGACAGAACGTGGCCACATTTACCTAAATGTCATTTCATCCCCCAATTGTG... | benign | 13,323 |
The chromosome 1, position 113898754 genetic variant in gene AP4B1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Abnormality_of_the_nervous_system', 'Hereditary_spastic_paraplegia_47', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Spastic_paraplegia'] | TAAGGTTTCCTCAGGTTTGGGGCCTTTGGCCCTATTGGGTTTTAGTGTTTCAGTGGAAGCTGCTCAAAGAATTTCTCTAAATTTTTCACAAAAATGGTTACTAACCTAGAGTGCACATCAGAGTCATCTGTGAAGCTTCTTAAAAATGTATCTGTCAGCCGGGCACGGTGGCTTACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCGTCTCTATTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTT... | TAAGGTTTCCTCAGGTTTGGGGCCTTTGGCCCTATTGGGTTTTAGTGTTTCAGTGGAAGCTGCTCAAAGAATTTCTCTAAATTTTTCACAAAAATGGTTACTAACCTAGAGTGCACATCAGAGTCATCTGTGAAGCTTCTTAAAAATGTATCTGTCAGCCGGGCACGGTGGCTTACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCGTCTCTATTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTT... | pathogenic | 13,356 |
Is chromosome 1, position 113900018, gene AP4B1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_spastic_paraplegia_47'] | CACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTG... | CACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTG... | pathogenic | 13,359 |
A genetic alteration at chromosome 1, position 113900353, in gene AP4B1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_spastic_paraplegia_47', 'Spastic_paraplegia'] | AAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTA... | AAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTA... | pathogenic | 13,366 |
Located at chromosome 1 position 113901814, the variant affecting gene AP4B1 (adaptor related protein complex 4 subunit beta 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_spastic_paraplegia_47', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | CACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTA... | CACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTA... | pathogenic | 13,374 |
Clinical significance of chromosome 1, position 113904664, gene AP4B1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_47'] | AGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACA... | AGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACA... | pathogenic | 13,385 |
A genetic alteration at chromosome 1, position 114708672, in gene NRAS (NRAS proto-oncogene, GTPase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAAATGTTTAAATACGTGATACTGAGTTTTCCAGTCATGGTAAAGGGTTTGTGCTAACTGACCTCTTCTTTCCTTGCAGGGCTAACTGCAGCTACCTAGCAAAATTACTAGCTGGAGTTACTGGTGCAATGAGCAAATGCAGAAGAATTTCTTTCTCTGTGATGCTAACTGGATTGTTCAAGTTTTGAAACTGTGACCCTGGTCCATTAGCACCATGCTTTACTCAACTGAAATAATCAAGCCCCTATTGCTGTGGGGGAAGCTGTAGAGGGTGGGGTGAGAAGGGGATTGAAGGCAATTATATACATCATTAAGATACC... | AAAATGTTTAAATACGTGATACTGAGTTTTCCAGTCATGGTAAAGGGTTTGTGCTAACTGACCTCTTCTTTCCTTGCAGGGCTAACTGCAGCTACCTAGCAAAATTACTAGCTGGAGTTACTGGTGCAATGAGCAAATGCAGAAGAATTTCTTTCTCTGTGATGCTAACTGGATTGTTCAAGTTTTGAAACTGTGACCCTGGTCCATTAGCACCATGCTTTACTCAACTGAAATAATCAAGCCCCTATTGCTGTGGGGGAAGCTGTAGAGGGTGGGGTGAGAAGGGGATTGAAGGCAATTATATACATCATTAAGATACC... | benign | 13,426 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 114713997, gene NRAS (NRAS proto-oncogene, GTPase). What disease(s) is it linked to if pathogenic? | benign | CTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTAGTCCGAGCAACTTAACGGCTTTCAGCATACAGATACTGAATCTTTCAGCTGGCTACTTTCCTTTTCACAACAGTGACCAAATTTGT... | CTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTAGTCCGAGCAACTTAACGGCTTTCAGCATACAGATACTGAATCTTTCAGCTGGCTACTTTCCTTTTCACAACAGTGACCAAATTTGT... | benign | 13,452 |
Does the variant impacting TSHB (thyroid stimulating hormone subunit beta) on chromosome 1, position 115034038, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Isolated_thyroid-stimulating_hormone_deficiency'] | TGTAGGTCTTAAAGTCTTAATTTGGACTCTTTCAGAGCACTAGAACAATCTGCGTTTTTATTATTTGTGTTCATATTAGCTCCTCCACTGGACAGTCAGCCCTTTAGGTAAAGGACCGTAGCTTTTCCGTTTGTGTTTGTCAGTGCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATC... | TGTAGGTCTTAAAGTCTTAATTTGGACTCTTTCAGAGCACTAGAACAATCTGCGTTTTTATTATTTGTGTTCATATTAGCTCCTCCACTGGACAGTCAGCCCTTTAGGTAAAGGACCGTAGCTTTTCCGTTTGTGTTTGTCAGTGCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATC... | pathogenic | 13,479 |
Evaluate this variant at chromosome 1, position 115034182, gene TSHB (thyroid stimulating hormone subunit beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Isolated_thyroid-stimulating_hormone_deficiency', 'Pituitary_hypothyroidism'] | GCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTAT... | GCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTAT... | pathogenic | 13,481 |
Variant on chromosome 1, at position 115701423, affecting CASQ2 (calsequestrin 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1'] | TCTAGTTAATCAATTATTCATCCACCAACTCAATAAATGAGTATCTACTTTGTGATGGGCAAAGCGCTAAGTGCTAGGGATTCTAAGATAAATTCCTTGCCTCTAAGGAGCCTGCAATTTAGTGAAAGGACAGACATGCAAATATATGTTATACCTTAAATGATAAGTGACATGATCCAGGGATGCACAAATCACAGGGGGGAAGGGGCACCTTCAGGTCACCTAGACAATTGGATAAATGGTGCTATCACCCACCCAAACTAGGACTCCATGAAGAGGAGAAGATGTTTAGGGGAGAAGGCAATGAGTTCAGGTTTTGT... | TCTAGTTAATCAATTATTCATCCACCAACTCAATAAATGAGTATCTACTTTGTGATGGGCAAAGCGCTAAGTGCTAGGGATTCTAAGATAAATTCCTTGCCTCTAAGGAGCCTGCAATTTAGTGAAAGGACAGACATGCAAATATATGTTATACCTTAAATGATAAGTGACATGATCCAGGGATGCACAAATCACAGGGGGGAAGGGGCACCTTCAGGTCACCTAGACAATTGGATAAATGGTGCTATCACCCACCCAAACTAGGACTCCATGAAGAGGAGAAGATGTTTAGGGGAGAAGGCAATGAGTTCAGGTTTTGT... | pathogenic | 13,557 |
Clinically, how would you classify the variant at chromosome 1, position 115705205, gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1'] | ACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAGGAGCAA... | ACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAGGAGCAA... | pathogenic | 13,571 |
The chromosome 1, position 115725557 genetic variant in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | benign | 13,586 |
Is the chromosome 1, position 115725557 variant in CASQ2 (calsequestrin 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | benign | 13,587 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 115725557, gene CASQ2 (calsequestrin 2): what disease(s) if pathogenic? | benign | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | benign | 13,588 |
The chromosome 1, position 115725557 genetic variant in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | benign | 13,589 |
Variant at chromosome 1, position 115725557, gene CASQ2 (calsequestrin 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | benign | 13,590 |
Clinical classification of chromosome 1, position 115725557, gene CASQ2 (calsequestrin 2): benign or pathogenic? Disease(s) if pathogenic? | benign | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | benign | 13,591 |
A mutation at chromosome position 115725557 on chromosome 1 in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACT... | benign | 13,592 |
Classify the chromosome 1 variant at position 115732960 affecting gene CASQ2 (calsequestrin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2'] | TTTTCTCCTCTTCTGTCCTAGCACTCCCTGCTGGAAACCACTGAGGCTCTACCAGGTGCAGTCATGCCTTCTGGACTCCACCATCTCCCCTTGGACACCCCCTCCACCCCAACTGATGGATGCAAGTTCTTAAGCACCAAATGGCATCAGAGTCCTCTCAGTGCTCTCCCCTCTGTGTACCTTTGTCTCTTTAAATATTCTGAAATCCAACAAGGCTACATGAACACTGGCACTTATGACTCAGTGTCCTACAGAATTTGAATAAAGCATCTCTCTGAATTTTTAATCATAGCCTGACCTCACCTTTTTCATGGACCACA... | TTTTCTCCTCTTCTGTCCTAGCACTCCCTGCTGGAAACCACTGAGGCTCTACCAGGTGCAGTCATGCCTTCTGGACTCCACCATCTCCCCTTGGACACCCCCTCCACCCCAACTGATGGATGCAAGTTCTTAAGCACCAAATGGCATCAGAGTCCTCTCAGTGCTCTCCCCTCTGTGTACCTTTGTCTCTTTAAATATTCTGAAATCCAACAAGGCTACATGAACACTGGCACTTATGACTCAGTGTCCTACAGAATTTGAATAAAGCATCTCTCTGAATTTTTAATCATAGCCTGACCTCACCTTTTTCATGGACCACA... | pathogenic | 13,609 |
Gene CASQ2 (calsequestrin 2) variant at chromosome position 115740793 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2'] | TTTAGTGATTTTGAAATATGTAATACATATTATTCACTATATTCACCATGCTGTACAATATATCTCAAAGAACAAAATCTTATTTCTCCTGTCTAATTGAGGCTTTGCACCCTTTGATCATTATCTCTCCATTCCCACCACCCCCACCCCATCCTGCTTTTGGCAACTACTCTCTGCTTCTCTGAGTTCTCGTGTTCTAGATTCCACATATAATAAGTGAGAACATGTTGTATTAGTCTTTCTGTGCCTAGCTTATTTCACTTAACATAATGTTCTCCAATTCCATCTGTATAGTTGCAAATGATAGTTTTCTTTTTTTA... | TTTAGTGATTTTGAAATATGTAATACATATTATTCACTATATTCACCATGCTGTACAATATATCTCAAAGAACAAAATCTTATTTCTCCTGTCTAATTGAGGCTTTGCACCCTTTGATCATTATCTCTCCATTCCCACCACCCCCACCCCATCCTGCTTTTGGCAACTACTCTCTGCTTCTCTGAGTTCTCGTGTTCTAGATTCCACATATAATAAGTGAGAACATGTTGTATTAGTCTTTCTGTGCCTAGCTTATTTCACTTAACATAATGTTCTCCAATTCCATCTGTATAGTTGCAAATGATAGTTTTCTTTTTTTA... | pathogenic | 13,624 |
Regarding the variant at chromosome 1 and position 115768328, affecting gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2'] | TGTTACGTACAACTGCCTTCATCTGTAGTAGCTGTGTGACCTTGGACAACTTAGCCTCTCTGCTTCAGTTTCCACATCTATAAAATGGAATTGGTAACTGTACCTACTTAATAGAATTATTGTAAGGATTAAACAAGCTAACACATACCAAGTGCTTAGAACAGTCCCTGCACTTAGTAAGCATTTAATCAACATTATTATTATTTAATCATTTCTTAAGCTGCATGATAGTTACTATTTTTCCATATTTATAGATAAGAAAATGAAGCTCTGAGAAATTACGTAATTTGCCCTGTGTCCTGTGCCTAGTAGAGACAAAG... | TGTTACGTACAACTGCCTTCATCTGTAGTAGCTGTGTGACCTTGGACAACTTAGCCTCTCTGCTTCAGTTTCCACATCTATAAAATGGAATTGGTAACTGTACCTACTTAATAGAATTATTGTAAGGATTAAACAAGCTAACACATACCAAGTGCTTAGAACAGTCCCTGCACTTAGTAAGCATTTAATCAACATTATTATTATTTAATCATTTCTTAAGCTGCATGATAGTTACTATTTTTCCATATTTATAGATAAGAAAATGAAGCTCTGAGAAATTACGTAATTTGCCCTGTGTCCTGTGCCTAGTAGAGACAAAG... | pathogenic | 13,641 |
Is the chromosome 1, position 116397859 variant in ATP1A1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAAGTAAAGATAGGGTTTCGCCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAAGCGTGAGCCACCACACCCGGCCTACTCTCAGGATTAATACTGCCCTGAAAAGCTTTGTAGAAGTTATTTCCTCACCATTCCGACTGCTTCTTTTTAAAGT... | GCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAAGTAAAGATAGGGTTTCGCCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAAGCGTGAGCCACCACACCCGGCCTACTCTCAGGATTAATACTGCCCTGAAAAGCTTTGTAGAAGTTATTTCCTCACCATTCCGACTGCTTCTTTTTAAAGT... | benign | 13,694 |
Gene HSD3B2 variant at chromosome position 119415482 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency'] | TGGGGAGTCAAGCTAAATCATTTGTAGAGTATGACTTCCAACAACTTCAGAAAGCATTCTTTTGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATC... | TGGGGAGTCAAGCTAAATCATTTGTAGAGTATGACTTCCAACAACTTCAGAAAGCATTCTTTTGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATC... | pathogenic | 13,795 |
The genetic variant at chromosome 1, position 119415544, affecting gene HSD3B2: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency'] | TGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGG... | TGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGG... | pathogenic | 13,797 |
Considering the genetic mutation at chromosome 1, position 119422056, impacting HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency'] | GTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCC... | GTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCC... | pathogenic | 13,810 |
Variant in gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2), located at chromosome 1 position 119422290: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency'] | CATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATG... | CATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATG... | pathogenic | 13,822 |
The chromosome 1, position 119422317 genetic variant in gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency', 'Congenital_adrenal_hyperplasia'] | CTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTT... | CTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTT... | pathogenic | 13,823 |
Is the genetic change at chromosome 1, position 119422348, within gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_adrenal_hyperplasia'] | GAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGA... | GAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGA... | pathogenic | 13,824 |
Evaluate if the mutation on chromosome 1 at position 119422367 in HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency'] | CACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGG... | CACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGG... | pathogenic | 13,825 |
Benign or pathogenic: chromosome 1, position 119735314, gene PHGDH (phosphoglycerate dehydrogenase) variant? Disease(s) if pathogenic? | pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency'] | ATAACCATTTTAGCTTCTGCCCTAGAATTACTGAATTTGAAGTCCTCTTTCCTATTACGTTCTTTTTTATTTTGTTTTATTTTTTTTTTTTTTTCTGAGACATCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGTGATCCTCCTGCCTCAGCCTTCTGGGTGGCACAGGTGCATGCCACCAAACTTGGCTAGTTTTTTAAATTTTTTGTAGGGGGGGGGGTCTGACTATGTTTCTCCAGCTAGTCTCTGACTCCTGGGGTCAAATGATCCTCCTGCC... | ATAACCATTTTAGCTTCTGCCCTAGAATTACTGAATTTGAAGTCCTCTTTCCTATTACGTTCTTTTTTATTTTGTTTTATTTTTTTTTTTTTTTCTGAGACATCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGTGATCCTCCTGCCTCAGCCTTCTGGGTGGCACAGGTGCATGCCACCAAACTTGGCTAGTTTTTTAAATTTTTTGTAGGGGGGGGGGTCTGACTATGTTTCTCCAGCTAGTCTCTGACTCCTGGGGTCAAATGATCCTCCTGCC... | pathogenic | 13,868 |
Is the variant located on chromosome 1 at position 119737221, gene PHGDH (phosphoglycerate dehydrogenase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency'] | TCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGC... | TCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGC... | pathogenic | 13,874 |
Variant at chromosome position 119740430, chromosome 1, gene PHGDH (phosphoglycerate dehydrogenase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency'] | AGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCAT... | AGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCAT... | pathogenic | 13,877 |
Does the variant impacting PHGDH (phosphoglycerate dehydrogenase) on chromosome 1, position 119742990, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency'] | AGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAA... | AGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAA... | pathogenic | 13,887 |
Gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) variant at chromosome position 119752574 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency'] | TTTATGGTACAAATCCCCACTTCTGATTAGTTTGAAAGCTGTGAACCCTCCCTGGCCTGGTTAATGTTCCCAAACTACAAGATTCCTATTCTGAATACTTGCTTTTCCTTTTAAAAATTCCACAGATAATTCTCCCATTTCTCCTGTCACCCCAATCCTCTTCCATTAAACTTTCTTCTCCCTGCACCTGTCCCCACCTTCTCTCTCTGTGTTGTTACTCAGAGGAAGACATTAGGGTTTTATGCCACCAACTCTGCAAACTCTCACTCACCACCTTTAGACGGGACGCCGGGCATACTTTCGGCGATGCTGCTCGTCCA... | TTTATGGTACAAATCCCCACTTCTGATTAGTTTGAAAGCTGTGAACCCTCCCTGGCCTGGTTAATGTTCCCAAACTACAAGATTCCTATTCTGAATACTTGCTTTTCCTTTTAAAAATTCCACAGATAATTCTCCCATTTCTCCTGTCACCCCAATCCTCTTCCATTAAACTTTCTTCTCCCTGCACCTGTCCCCACCTTCTCTCTCTGTGTTGTTACTCAGAGGAAGACATTAGGGTTTTATGCCACCAACTCTGCAAACTCTCACTCACCACCTTTAGACGGGACGCCGGGCATACTTTCGGCGATGCTGCTCGTCCA... | pathogenic | 13,910 |
Gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) variant at chromosome 1, position 119764549—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency'] | ATACTCTTCTCTTTCCTCATCCCCTCCACTTTTCTCTGGAGTGATTCAGAACTCCCTGAGTCTCAGAGCCACTCCCTCCCACCTGAGGGTCCCCAGATGAATGACTGGCTAGGTCAGAAGCAGAGTTCTCATTCACACTGGCATCCTCTGGTCCTGGTGGTTACTGTCACCTGCAGGGTATGTAGTCCGAGTGTCCAGGCTCAAGCTTAGCTGTTTTTGTTTTAAATACAAACTAAAGATTCACATTTCAATAACTTGTTTTTTAAATTTTTACTTTTATACCTAGATACCACATTTTTTTAAAAGATGCATTTGCAACC... | ATACTCTTCTCTTTCCTCATCCCCTCCACTTTTCTCTGGAGTGATTCAGAACTCCCTGAGTCTCAGAGCCACTCCCTCCCACCTGAGGGTCCCCAGATGAATGACTGGCTAGGTCAGAAGCAGAGTTCTCATTCACACTGGCATCCTCTGGTCCTGGTGGTTACTGTCACCTGCAGGGTATGTAGTCCGAGTGTCCAGGCTCAAGCTTAGCTGTTTTTGTTTTAAATACAAACTAAAGATTCACATTTCAATAACTTGTTTTTTAAATTTTTACTTTTATACCTAGATACCACATTTTTTTAAAAGATGCATTTGCAACC... | pathogenic | 13,935 |
Benign or pathogenic: chromosome 1, position 119915812, gene NOTCH2 (notch receptor 2) variant? Disease(s) if pathogenic? | pathogenic; ['Hajdu-Cheney_syndrome', 'Monoclonal_B-Cell_Lymphocytosis'] | GAGTTTCTACGTTAGTTGCCAAAGGGAATGTCATGGCCGCTTCAGAGGAAAAGAAATGGTAGCAGAAAATAGCAAAGGCTGCTATATAGTTCCTCCTTTTCCAACCTTCTTATAGGGCTGTTTTGGATCATAGAAAACAAGTCCAACTTTCCAATTCCTGCACTTGAACATATAAAGTCCATGTCTTCAGTGAGAACATACTGGGTATACCAGTAACACGGACCACACGGTGTGAAAGAAAGATTGGTGAGCAGGCCTTTAAGCAGCAAGATAATCAGTAGAGACTGATCATCTGACAAACGGAAGACAACTGTCACTGG... | GAGTTTCTACGTTAGTTGCCAAAGGGAATGTCATGGCCGCTTCAGAGGAAAAGAAATGGTAGCAGAAAATAGCAAAGGCTGCTATATAGTTCCTCCTTTTCCAACCTTCTTATAGGGCTGTTTTGGATCATAGAAAACAAGTCCAACTTTCCAATTCCTGCACTTGAACATATAAAGTCCATGTCTTCAGTGAGAACATACTGGGTATACCAGTAACACGGACCACACGGTGTGAAAGAAAGATTGGTGAGCAGGCCTTTAAGCAGCAAGATAATCAGTAGAGACTGATCATCTGACAAACGGAAGACAACTGTCACTGG... | pathogenic | 13,950 |
Assess the variant on chromosome 1, position 119916271, impacting NOTCH2 (notch receptor 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alagille_syndrome_due_to_a_NOTCH2_point_mutation', 'Hajdu-Cheney_syndrome'] | AATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCC... | AATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCC... | pathogenic | 13,958 |
A genetic variant on chromosome 1, position 119916317, affects the gene NOTCH2 (notch receptor 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hajdu-Cheney_syndrome', 'NOTCH2-related_disorder'] | AATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTC... | AATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTC... | pathogenic | 13,960 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 119919428, gene NOTCH2 (notch receptor 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hajdu-Cheney_syndrome'] | AGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTT... | AGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTT... | pathogenic | 13,967 |
The mutation in gene NOTCH2 (notch receptor 2) at chromosome 1, position 119923739—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alagille_syndrome_due_to_a_NOTCH2_point_mutation'] | GGTTCTACCATGGCCACCTCACCTTTACTTTCTTTGGCTGGGGCCCTTCATCATCGACCCAGTGTTCACTTGTTCCAGTACCAATTAGGTTAGCTTCTGAGACTTGCACTGAGAGATTTCTAATATGATTATAAAAAGAAAAAATAAGAATGGCAGTCATAAACTAATACAGTGGTTTTCAACACTTTCCACCATGACACACTCCCGTGGCTATATTACAATTTTGCAGGGTCTTGGCCCAGAGAAGATGGGCAGTATTTTTGGTGACATTCCCTTGGCATTCATCCTTTCCCTTCCCATTGATCGTGAGCTTACAACAA... | GGTTCTACCATGGCCACCTCACCTTTACTTTCTTTGGCTGGGGCCCTTCATCATCGACCCAGTGTTCACTTGTTCCAGTACCAATTAGGTTAGCTTCTGAGACTTGCACTGAGAGATTTCTAATATGATTATAAAAAGAAAAAATAAGAATGGCAGTCATAAACTAATACAGTGGTTTTCAACACTTTCCACCATGACACACTCCCGTGGCTATATTACAATTTTGCAGGGTCTTGGCCCAGAGAAGATGGGCAGTATTTTTGGTGACATTCCCTTGGCATTCATCCTTTCCCTTCCCATTGATCGTGAGCTTACAACAA... | pathogenic | 13,985 |
Variant in NOTCH2 (notch receptor 2), chromosome 1, position 119935616—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GATTAACAGCATATTTCTCATTAAAAACCATGGATATCAGAAAGCAGTGGGATGATATATTCAAAGTGCTGAAAGAAAAAGACTGTCAATGATAATATCAAAACTAGTATTCTAAGCCATCTTTACCATATGGTTAGAAGAGACAAAAATTTTGTTTCCTTCTGAAATGATCCATTCTAGGACTGGACATGTCTTATTAATTAAAAGTTCATGGTATAGTAGTGATTTTAGAGTTTGATGAATACTCATGTACTCTCCTATATTTCCCAGCCTCCCTTGAAGTCACAGAGACCATTTAATAATTCCGGTCAATATACTGC... | GATTAACAGCATATTTCTCATTAAAAACCATGGATATCAGAAAGCAGTGGGATGATATATTCAAAGTGCTGAAAGAAAAAGACTGTCAATGATAATATCAAAACTAGTATTCTAAGCCATCTTTACCATATGGTTAGAAGAGACAAAAATTTTGTTTCCTTCTGAAATGATCCATTCTAGGACTGGACATGTCTTATTAATTAAAAGTTCATGGTATAGTAGTGATTTTAGAGTTTGATGAATACTCATGTACTCTCCTATATTTCCCAGCCTCCCTTGAAGTCACAGAGACCATTTAATAATTCCGGTCAATATACTGC... | benign | 14,009 |
Variant on chromosome 1, at position 120069388, affecting NOTCH2 (notch receptor 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACACTCAACTTGACTACCTAAAAGCTAGCTAATAATCGCAGCACCTCAGCAGAGCAGAGGTGGAGGGCATAGTTTTATGCACTGAGATCCTATAATAAAAGAAGCCCTATGTGTCAGAGTAATCCCATTTCTGATATCATATTATTTAATACTTAATTTTTCAAATCACTTTACAATTATATTTATTATTCCCTACAATTCTCTAAAGCAGGTTATTCCTTTAGTCCTGCTTCATAGGTGAGGAGACTACATATCATGAAGATTAAGTTATTTACCAAAACAAGTTAATGATAGACCAAGGATTATTACCCTCAGACTGT... | ACACTCAACTTGACTACCTAAAAGCTAGCTAATAATCGCAGCACCTCAGCAGAGCAGAGGTGGAGGGCATAGTTTTATGCACTGAGATCCTATAATAAAAGAAGCCCTATGTGTCAGAGTAATCCCATTTCTGATATCATATTATTTAATACTTAATTTTTCAAATCACTTTACAATTATATTTATTATTCCCTACAATTCTCTAAAGCAGGTTATTCCTTTAGTCCTGCTTCATAGGTGAGGAGACTACATATCATGAAGATTAAGTTATTTACCAAAACAAGTTAATGATAGACCAAGGATTATTACCCTCAGACTGT... | benign | 14,070 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 146018372, gene HJV (hemojuvelin BMP co-receptor): what disease(s) if pathogenic? | pathogenic; ['Hemochromatosis_type_2A'] | TTGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTG... | TTGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTG... | pathogenic | 14,108 |
Assess the variant on chromosome 1, position 146018397, impacting HJV (hemojuvelin BMP co-receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hemochromatosis_type_2A'] | GCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTT... | GCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTT... | pathogenic | 14,110 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 146019386, gene HJV (hemojuvelin BMP co-receptor): what disease(s) if pathogenic? | pathogenic; ['Hemochromatosis_type_2A'] | TCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTT... | TCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTT... | pathogenic | 14,116 |
Evaluate this variant at chromosome 1, position 146019428, gene HJV (hemojuvelin BMP co-receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hemochromatosis_type_2A'] | TACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAAT... | TACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAAT... | pathogenic | 14,117 |
The chromosome 1, position 146019432 genetic variant in gene HJV (hemojuvelin BMP co-receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hemochromatosis_type_2A'] | TCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATC... | TCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATC... | pathogenic | 14,118 |
Is the variant located on chromosome 1 at position 146019611, gene HJV (hemojuvelin BMP co-receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hemochromatosis_type_2A'] | TCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGG... | TCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGG... | pathogenic | 14,120 |
Does the variant on chromosome 1 at location 146019625 affecting gene HJV (hemojuvelin BMP co-receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTT... | AGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTT... | benign | 14,121 |
Variant at chromosome 1, position 146020172, gene HJV (hemojuvelin BMP co-receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hemochromatosis_type_2A'] | CTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATG... | CTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATG... | pathogenic | 14,125 |
For chromosome 1, position 147909270, gene GJA8 (gap junction protein alpha 8): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTA... | ACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTA... | benign | 14,194 |
Gene SF3B4 (splicing factor 3b subunit 4) variant at chromosome 1, position 149923567—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Nager_syndrome'] | ACCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCT... | ACCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCT... | pathogenic | 14,210 |
Variant at chromosome 1, position 149923657, gene SF3B4 (splicing factor 3b subunit 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases'] | ACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGG... | ACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGG... | pathogenic | 14,211 |
Determine whether the variant at chromosome 1, position 149923669, in gene SF3B4 (splicing factor 3b subunit 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Nager_syndrome'] | CGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCC... | CGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCC... | pathogenic | 14,212 |
Evaluate if the mutation on chromosome 1 at position 149925921 in SF3B4 (splicing factor 3b subunit 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_hearing_loss_and_deafness'] | GGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCA... | GGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCA... | pathogenic | 14,218 |
A mutation at chromosome position 150491380 on chromosome 1 in gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGC... | AAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGC... | benign | 14,307 |
Determine if the mutation at chromosome 1, position 150499372 in gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TAAACATAAATATTGAAAGTGCTGGTGACCTTTAATACTACAATTGTGTGGTCTGCAGTCGGGGAGCATAGAGATGGGACCTGGTATTTAATAGGTTGTGGTTGCAATCAGCATGGCCTGAGGGCCCAGGAAGATCACACAGCTGACACCCTACCTGCTTTCCTTCCAGTTACTCTGACCTTCCATGTCTGTACCCTCCTCTCCAGGCTGAGTATGCCCATCGTGGTTTCTCCGAGGTGAAAACTCCCACACTGTTTTCTACGAAGCTCTGGGAACAGTCAGGGCACTGGGAGCATTATCAGGAAGACATGTTTGCCGTG... | TAAACATAAATATTGAAAGTGCTGGTGACCTTTAATACTACAATTGTGTGGTCTGCAGTCGGGGAGCATAGAGATGGGACCTGGTATTTAATAGGTTGTGGTTGCAATCAGCATGGCCTGAGGGCCCAGGAAGATCACACAGCTGACACCCTACCTGCTTTCCTTCCAGTTACTCTGACCTTCCATGTCTGTACCCTCCTCTCCAGGCTGAGTATGCCCATCGTGGTTTCTCCGAGGTGAAAACTCCCACACTGTTTTCTACGAAGCTCTGGGAACAGTCAGGGCACTGGGAGCATTATCAGGAAGACATGTTTGCCGTG... | benign | 14,331 |
Regarding the variant at chromosome 1 and position 150553171, affecting gene ADAMTSL4: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae'] | AGTGTTCAAAGCTGAACTTCAGATGGACTTCCCGGCTCTTCAGAATGAGAGGCCTGTGGCTGGGGCATGAGGCAGCCCCGGCTGCACCTCTCCTTCCCGCTTCCCCAGCTGGTAGAGACGCACAGGAAACAAGCCCTCACTGAACCAACTCCAGATGCTGGCACCCAGAGTGGGTGTTACATTGCCGGCTTCTTCTCTAGAGATTAAACCGTCAACCCATTTAGCTTATCCCTTGGCCAAAAAGTGTATGAGATGTGCCTGGATGTTCCCTAAAGAGCTTATCTAAGAAGGGAAGAGAAAGCCGGGAGGCAAGTAGGACA... | AGTGTTCAAAGCTGAACTTCAGATGGACTTCCCGGCTCTTCAGAATGAGAGGCCTGTGGCTGGGGCATGAGGCAGCCCCGGCTGCACCTCTCCTTCCCGCTTCCCCAGCTGGTAGAGACGCACAGGAAACAAGCCCTCACTGAACCAACTCCAGATGCTGGCACCCAGAGTGGGTGTTACATTGCCGGCTTCTTCTCTAGAGATTAAACCGTCAACCCATTTAGCTTATCCCTTGGCCAAAAAGTGTATGAGATGTGCCTGGATGTTCCCTAAAGAGCTTATCTAAGAAGGGAAGAGAAAGCCGGGAGGCAAGTAGGACA... | pathogenic | 14,382 |
Is chromosome 1, position 150553749, gene ADAMTSL4 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Craniosynostosis_with_ectopia_lentis', 'Ectopia_lentis', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae', 'Inborn_genetic_diseases'] | CCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCT... | CCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCT... | pathogenic | 14,386 |
Considering the variant on chromosome 1, location 150553947, involving gene ADAMTSL4, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['ADAMTSL4-related_disorder'] | AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCAC... | AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCAC... | pathogenic | 14,392 |
Is the chromosome 1, position 150553947 variant in ADAMTSL4 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['ADAMTSL4-related_disorder'] | AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCAC... | AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCAC... | pathogenic | 14,393 |
Evaluate the clinical significance of the mutation at chromosome 1, position 150554375 in gene ADAMTSL4: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ADAMTSL4-related_disorder', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae'] | GGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTT... | GGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTT... | pathogenic | 14,398 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 150557306, gene ADAMTSL4: what disease(s) if pathogenic? | pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae'] | GATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGAC... | GATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGAC... | pathogenic | 14,415 |
Clinical classification of chromosome 1, position 150558029, gene ADAMTSL4 (ADAMTS like 4): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae'] | AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCT... | AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCT... | pathogenic | 14,422 |
A genetic variant on chromosome 1, position 150558029, affects the gene ADAMTSL4 (ADAMTS like 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Craniosynostosis_with_ectopia_lentis', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae'] | AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCT... | AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCT... | pathogenic | 14,423 |
Variant on chromosome 1, at position 150558947, affecting ADAMTSL4 (ADAMTS like 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGC... | TGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGC... | benign | 14,439 |
Variant on chromosome 1, at position 150559397, affecting ADAMTSL4 (ADAMTS like 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae'] | GTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACA... | GTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACA... | pathogenic | 14,445 |
A mutation at chromosome position 150799231 on chromosome 1 in gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Pyknodysostosis'] | CCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAG... | CCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAG... | pathogenic | 14,469 |
Gene CTSK (cathepsin K) variant at chromosome position 150799239 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pyknodysostosis'] | AGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCC... | AGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCC... | pathogenic | 14,470 |
Does the variant impacting CTSK (cathepsin K) on chromosome 1, position 150799589, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pyknodysostosis'] | GATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAG... | GATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAG... | pathogenic | 14,474 |
Considering the variant on chromosome 1, location 150799648, involving gene CTSK (cathepsin K), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Pyknodysostosis'] | AGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCT... | AGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCT... | pathogenic | 14,476 |
Clinically, how would you classify the variant at chromosome 1, position 150804212, gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Pyknodysostosis'] | GCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGA... | GCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGA... | pathogenic | 14,481 |
Mutation at chromosome 1, position 150805864, within CTSK (cathepsin K): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Pyknodysostosis'] | ATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCC... | ATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCC... | pathogenic | 14,486 |
Assess the variant on chromosome 1, position 150805969, impacting CTSK (cathepsin K): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Pyknodysostosis'] | ATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCC... | ATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCC... | pathogenic | 14,489 |
Regarding the variant found on chromosome 1 at position 150806144 in gene CTSK (cathepsin K): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Pyknodysostosis'] | GTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTT... | GTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTT... | pathogenic | 14,495 |
Variant in gene CTSK (cathepsin K), located at chromosome 1 position 150806186: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Pyknodysostosis'] | TAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGT... | TAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGT... | pathogenic | 14,496 |
The chromosome 1, position 150806722 genetic variant in gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Pyknodysostosis'] | TAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGC... | TAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGC... | pathogenic | 14,501 |
Benign or pathogenic: chromosome 1, position 150806757, gene CTSK (cathepsin K) variant? Disease(s) if pathogenic? | pathogenic; ['Pyknodysostosis'] | TTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCA... | TTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCA... | pathogenic | 14,502 |
Mutation at chromosome 1, position 151346264, within RFX5 (regulatory factor X5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_3', 'MHC_class_II_deficiency_5'] | TCAAGTCCAGGCAGGGGTGGCATAGACACCAAGGTCTTCCTCCTTATGCCACTGTAGCAATATCTGATGCAAGTTAAAGAGCAGCCAACACATGGCGATCTCCAAGCCCCTCGAGCAAGTTAAGCTGTTCCACTCCTTGCTCTCCACATCCTAAGTCTTCCTCCCAGGTCCTCCACCCCCAACCTCTCTAGTCAAGGATACTTGGACTGGCCCCGGCCACCAAGCCTTCGAGCTTTGATGTCAGGGAAGATCTCTCTGATGATCTTGCCAAAGTTGGCTGTGCTGAGTGGGCGGCAACAGGCAAGACTCTCACAGTACTT... | TCAAGTCCAGGCAGGGGTGGCATAGACACCAAGGTCTTCCTCCTTATGCCACTGTAGCAATATCTGATGCAAGTTAAAGAGCAGCCAACACATGGCGATCTCCAAGCCCCTCGAGCAAGTTAAGCTGTTCCACTCCTTGCTCTCCACATCCTAAGTCTTCCTCCCAGGTCCTCCACCCCCAACCTCTCTAGTCAAGGATACTTGGACTGGCCCCGGCCACCAAGCCTTCGAGCTTTGATGTCAGGGAAGATCTCTCTGATGATCTTGCCAAAGTTGGCTGTGCTGAGTGGGCGGCAACAGGCAAGACTCTCACAGTACTT... | pathogenic | 14,568 |
Clinical classification of chromosome 1, position 151405577, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Neurodevelopmental_disorder', 'POGZ-related_disorder'] | TTTTGGTTTACAACCATGAGTACATACAATTAAAAAAATCCCTCATGCAAATTGTAGAAAAAATTTTCTTTCCTTGAAGCTGGCAGTGAAAAATAAAGATTCATGTCATTTTCTTTGTGCACACCCCTGTGCGCTTCTTCCTGTCAGATTCTTCCCTAAGTATTAAGAGAAATAGGGGAAAGCCACAGAGCACGCTGGATTTCAACAAGTGGTCTTGTCTTTTTAAAGTTCAACACTTCTTGAACAATTAGCTCCTGGCTGTAGGACCAGTAATCCCTTAAACAGGCATGCTCTCCATCTAACAGGATGAAGTTCAGTAA... | TTTTGGTTTACAACCATGAGTACATACAATTAAAAAAATCCCTCATGCAAATTGTAGAAAAAATTTTCTTTCCTTGAAGCTGGCAGTGAAAAATAAAGATTCATGTCATTTTCTTTGTGCACACCCCTGTGCGCTTCTTCCTGTCAGATTCTTCCCTAAGTATTAAGAGAAATAGGGGAAAGCCACAGAGCACGCTGGATTTCAACAAGTGGTCTTGTCTTTTTAAAGTTCAACACTTCTTGAACAATTAGCTCCTGGCTGTAGGACCAGTAATCCCTTAAACAGGCATGCTCTCCATCTAACAGGATGAAGTTCAGTAA... | pathogenic | 14,584 |
Is chromosome 1, position 151405993, gene POGZ (pogo transposable element derived with ZNF domain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Global_developmental_delay', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Speech_apraxia'] | CTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAA... | CTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAA... | pathogenic | 14,593 |
The chromosome 1, position 151406185 genetic variant in gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome'] | ATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTT... | ATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTT... | pathogenic | 14,600 |
Chromosome 1, position 151406266, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome'] | TTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAA... | TTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAA... | pathogenic | 14,604 |
A genetic variant on chromosome 1, position 151406387, affects the gene POGZ (pogo transposable element derived with ZNF domain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome'] | TCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAA... | TCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAA... | pathogenic | 14,606 |
Determine whether the variant at chromosome 1, position 151406934, in gene POGZ (pogo transposable element derived with ZNF domain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome'] | ACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTAT... | ACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTAT... | pathogenic | 14,612 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 151408150, gene POGZ (pogo transposable element derived with ZNF domain): what disease(s) if pathogenic? | pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Smith-Magenis_Syndrome-like'] | AGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATT... | AGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATT... | pathogenic | 14,619 |
Regarding the variant found on chromosome 1 at position 151408165 in gene POGZ (pogo transposable element derived with ZNF domain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome'] | AGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTC... | AGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTC... | pathogenic | 14,621 |
Variant chromosome 1, position 151408480, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? Disease(s)? | benign | CGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCC... | CGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCC... | benign | 14,624 |
Gene POGZ (pogo transposable element derived with ZNF domain) variant at chromosome 1, position 151424958—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Neurodevelopmental_disorder', 'POGZ-related_disorder', 'dysmorphy', 'intellectual_deficiency'] | CTTAATTTCTTTGAGCTTATGTCCAGCCTACATGTATAAAATATACAGTGTAGAAAACACTCCAGCTCATCTTATATTTCATTGAAAGCAATGTCTTAATGATAAAGTACTTCACAATATTATCTTTTAGCCTACATAAAACCTATCAGGGTTTAACTAAAGTGGAAGAGCAAATAGATGACTGTTCCTTCTATAAAGAGACCTAAGAAATAAATTAATTACATTTGTTTTTCTACAGTGGTTCTGAATCAACGCCCCTAACAATTCAGGATCTAACACTGAACTCAATCCATGCTTGAACAAAATAAAAGTCAGGCTTG... | CTTAATTTCTTTGAGCTTATGTCCAGCCTACATGTATAAAATATACAGTGTAGAAAACACTCCAGCTCATCTTATATTTCATTGAAAGCAATGTCTTAATGATAAAGTACTTCACAATATTATCTTTTAGCCTACATAAAACCTATCAGGGTTTAACTAAAGTGGAAGAGCAAATAGATGACTGTTCCTTCTATAAAGAGACCTAAGAAATAAATTAATTACATTTGTTTTTCTACAGTGGTTCTGAATCAACGCCCCTAACAATTCAGGATCTAACACTGAACTCAATCCATGCTTGAACAAAATAAAAGTCAGGCTTG... | pathogenic | 14,646 |
Evaluate the clinical significance of the mutation at chromosome 1, position 151612258 in gene SNX27: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ACCTAAACCTCCTAAGTAGCTGGGACTACAGGTATGTGCCATCATGCCCAGCTGCTTTTTTTTTTTTTTTAGATATAGTCTCGCTCAGCCACCAGCTAATTTTTTATTTTTTGTTGAGATGGGGTCTCACTATGTTGCCCAGTTTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCCCACCTCGGTCTCCCAAAGTGCTGGTATTACAGGCATGAGCCACCACACCCAGCCTTTAAAAATTTGGGGGGACTCTTTTGTAATAACAGTTAGCTTAAAACACAAACACATTGTACAGATGTACAAAATATTTTCTTTCTTTA... | ACCTAAACCTCCTAAGTAGCTGGGACTACAGGTATGTGCCATCATGCCCAGCTGCTTTTTTTTTTTTTTTAGATATAGTCTCGCTCAGCCACCAGCTAATTTTTTATTTTTTGTTGAGATGGGGTCTCACTATGTTGCCCAGTTTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCCCACCTCGGTCTCCCAAAGTGCTGGTATTACAGGCATGAGCCACCACACCCAGCCTTTAAAAATTTGGGGGGACTCTTTTGTAATAACAGTTAGCTTAAAACACAAACACATTGTACAGATGTACAAAATATTTTCTTTCTTTA... | benign | 14,682 |
Does the chromosome 1 mutation at position 152111699 within gene TCHH (trichohyalin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCCTGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCGCGGTATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCACCTCCTCTTCCTCCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGACATTGCCTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTC... | TCCTGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCGCGGTATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCACCTCCTCTTCCTCCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGACATTGCCTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTC... | benign | 14,707 |
Variant in TCHH (trichohyalin), chromosome 1, position 152114079—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGC... | TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGC... | benign | 14,709 |
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