question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A mutation at chromosome position 1002153 on chromosome 4 in gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Mucopolysaccharidosis_type_1'] | CGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAG... | CGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAG... | pathogenic | 78,705 |
The genetic variant at chromosome 4, position 1002318, affecting gene IDUA (alpha-L-iduronidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis_type_1'] | GAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCT... | GAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCT... | pathogenic | 78,711 |
Determine whether the variant at chromosome 4, position 1002318, in gene IDUA (alpha-L-iduronidase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Mucopolysaccharidosis_type_1'] | GAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCT... | GAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCT... | pathogenic | 78,712 |
Gene IDUA (alpha-L-iduronidase) variant at chromosome 4, position 1002338—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | CCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGC... | CCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGC... | pathogenic | 78,716 |
Regarding the variant found on chromosome 4 at position 1002365 in gene IDUA (alpha-L-iduronidase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | GCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGC... | GCTCGCGACTGGCCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGC... | pathogenic | 78,721 |
A genetic variant at chromosome 4, position 1002377, affecting gene IDUA (alpha-L-iduronidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucopolysaccharidosis_type_1'] | CCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACC... | CCTGCCTCGTGCCACTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACC... | pathogenic | 78,723 |
Clinical significance of chromosome 4, position 1002391, gene IDUA (alpha-L-iduronidase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S'] | CTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTA... | CTGAGCCTCAGAGCCATTCCGAACCCCCACCCCAAGTTTTCCATCTCTTGATGGTGTAGGGTTGGGGGGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTA... | pathogenic | 78,726 |
Considering the genetic mutation at chromosome 4, position 1002458, impacting IDUA (alpha-L-iduronidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | GGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCC... | GGTCTCCATGTACAGATACTCTAGTTCATACCAGGCCTTCATAGGGTTATTTTCCAAGGGGAAGGGCCCCTCGGGAAGCCGGGATCGGAGTCCTGTGTGGCACCTTGCAGGCTCCCACATGCTCCGTTGTGGCCACGGTTCCAGCCTGGAGCATGGAGCTGTGTGGGCACCCTGCTTCCTGACGCTGACCGTCCTTCTGCAGGGGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCC... | pathogenic | 78,730 |
Regarding the variant found on chromosome 4 at position 1002713 in gene IDUA (alpha-L-iduronidase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATA... | TGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATA... | benign | 78,734 |
The mutation in gene IDUA (alpha-L-iduronidase) at chromosome 4, position 1002713—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATA... | TGGACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATA... | benign | 78,735 |
Gene mutation in IDUA (alpha-L-iduronidase) at chromosome 4, position 1002715—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACA... | GACCTTCTCAGGGAGAACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACA... | benign | 78,736 |
Chromosome 4, position 1002730, gene IDUA (alpha-L-iduronidase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | AACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGC... | AACCAGCTCCTCCCAGGTGAGCTGTGGGCTCTGCCCTCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGC... | pathogenic | 78,739 |
Variant at chromosome 4, position 1002766, gene IDUA (alpha-L-iduronidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Mucopolysaccharidosis_type_1'] | TCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGCAGGCCCTGGGGCCCTGGCCGGGGCGGGGGTACTCCT... | TCCCAGCCCGCCTGCACCCCCTTGCCCTGCCCACCCTCTCCCTCACCCAGCCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGCAGGCCCTGGGGCCCTGGCCGGGGCGGGGGTACTCCT... | pathogenic | 78,744 |
Evaluate this variant at chromosome 4, position 1002816, gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hurler_syndrome', 'IDUA-related_disorder', 'Mucopolysaccharidosis_type_1'] | CCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGCAGGCCCTGGGGCCCTGGCCGGGGCGGGGGTACTCCTGGGCAGGTTGCACCCCTATCACGCAGGCTGCTGCCTGGTCAGGAGATACA... | CCCCTCTGAGTCCTTGGATGTCCATTCAGGGCTGGCCTTGGTGCCGGAGCACAGGCCTGGCAGAGCATGGGTGTGGTGTGTGGTGGGCGGTGGGGCAGCCCTCCTGTGTTCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGCAGGCCCTGGGGCCCTGGCCGGGGCGGGGGTACTCCTGGGCAGGTTGCACCCCTATCACGCAGGCTGCTGCCTGGTCAGGAGATACA... | pathogenic | 78,748 |
The mutation in gene IDUA (alpha-L-iduronidase) at chromosome 4, position 1002931—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | GTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGCAGGCCCTGGGGCCCTGGCCGGGGCGGGGGTACTCCTGGGCAGGTTGCACCCCTATCACGCAGGCTGCTGCCTGGTCAGGAGATACATTGGTGGGCAGGCGCAGGCCCTTGTGGGGGGATGGGGGTGACAAGGGATAGGTTGGTGGTCGGCGCAGGCCCTGGGGCCCCAGGCTGGGGGGTACTCCTGGGCTTGGTGGGTGGG... | GTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGCAGGCCCTGGGGCCCTGGCCGGGGCGGGGGTACTCCTGGGCAGGTTGCACCCCTATCACGCAGGCTGCTGCCTGGTCAGGAGATACATTGGTGGGCAGGCGCAGGCCCTTGTGGGGGGATGGGGGTGACAAGGGATAGGTTGGTGGTCGGCGCAGGCCCTGGGGCCCCAGGCTGGGGGGTACTCCTGGGCTTGGTGGGTGGG... | pathogenic | 78,753 |
Does the genetic variant at chromosome 4, position 1002931, impacting gene IDUA (alpha-L-iduronidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Mucopolysaccharidosis_type_1'] | GTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGCAGGCCCTGGGGCCCTGGCCGGGGCGGGGGTACTCCTGGGCAGGTTGCACCCCTATCACGCAGGCTGCTGCCTGGTCAGGAGATACATTGGTGGGCAGGCGCAGGCCCTTGTGGGGGGATGGGGGTGACAAGGGATAGGTTGGTGGTCGGCGCAGGCCCTGGGGCCCCAGGCTGGGGGGTACTCCTGGGCTTGGTGGGTGGG... | GTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTCACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCCAGGAGATACATCGGTGGGCGAGCGCAGGCCCTGGGGCCCTGGCCGGGGCGGGGGTACTCCTGGGCAGGTTGCACCCCTATCACGCAGGCTGCTGCCTGGTCAGGAGATACATTGGTGGGCAGGCGCAGGCCCTTGTGGGGGGATGGGGGTGACAAGGGATAGGTTGGTGGTCGGCGCAGGCCCTGGGGCCCCAGGCTGGGGGGTACTCCTGGGCTTGGTGGGTGGG... | pathogenic | 78,754 |
Assess the variant on chromosome 4, position 1003054, impacting IDUA (alpha-L-iduronidase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | CCTGGGGCCCTGGCCGGGGCGGGGGTACTCCTGGGCAGGTTGCACCCCTATCACGCAGGCTGCTGCCTGGTCAGGAGATACATTGGTGGGCAGGCGCAGGCCCTTGTGGGGGGATGGGGGTGACAAGGGATAGGTTGGTGGTCGGCGCAGGCCCTGGGGCCCCAGGCTGGGGGGTACTCCTGGGCTTGGTGGGTGGGCGAAGGCCCTGGGCCCCTGGGGTGGGGGGTACTCCTGGGCAGGCTGCACCCCTATCACCCAGGCCGCACCCCTATCACCCAGGCCGCCGCCCAGGTCTTGGACCCCCTTGAGCCAGCGCTTCC... | CCTGGGGCCCTGGCCGGGGCGGGGGTACTCCTGGGCAGGTTGCACCCCTATCACGCAGGCTGCTGCCTGGTCAGGAGATACATTGGTGGGCAGGCGCAGGCCCTTGTGGGGGGATGGGGGTGACAAGGGATAGGTTGGTGGTCGGCGCAGGCCCTGGGGCCCCAGGCTGGGGGGTACTCCTGGGCTTGGTGGGTGGGCGAAGGCCCTGGGCCCCTGGGGTGGGGGGTACTCCTGGGCAGGCTGCACCCCTATCACCCAGGCCGCACCCCTATCACCCAGGCCGCCGCCCAGGTCTTGGACCCCCTTGAGCCAGCGCTTCC... | pathogenic | 78,762 |
Gene mutation in IDUA (alpha-L-iduronidase) at chromosome 4, position 1003126—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | AGGAGATACATTGGTGGGCAGGCGCAGGCCCTTGTGGGGGGATGGGGGTGACAAGGGATAGGTTGGTGGTCGGCGCAGGCCCTGGGGCCCCAGGCTGGGGGGTACTCCTGGGCTTGGTGGGTGGGCGAAGGCCCTGGGCCCCTGGGGTGGGGGGTACTCCTGGGCAGGCTGCACCCCTATCACCCAGGCCGCACCCCTATCACCCAGGCCGCCGCCCAGGTCTTGGACCCCCTTGAGCCAGCGCTTCCTGATGTGGGGCGGGAGGCTGGCCTGCATGGAGATGGGGTTCATCTTGAGTCAGACGCCCTTCATCACCTTGC... | AGGAGATACATTGGTGGGCAGGCGCAGGCCCTTGTGGGGGGATGGGGGTGACAAGGGATAGGTTGGTGGTCGGCGCAGGCCCTGGGGCCCCAGGCTGGGGGGTACTCCTGGGCTTGGTGGGTGGGCGAAGGCCCTGGGCCCCTGGGGTGGGGGGTACTCCTGGGCAGGCTGCACCCCTATCACCCAGGCCGCACCCCTATCACCCAGGCCGCCGCCCAGGTCTTGGACCCCCTTGAGCCAGCGCTTCCTGATGTGGGGCGGGAGGCTGGCCTGCATGGAGATGGGGTTCATCTTGAGTCAGACGCCCTTCATCACCTTGC... | pathogenic | 78,771 |
Determine if the mutation at chromosome 4, position 1003329 in gene IDUA (alpha-L-iduronidase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mucopolysaccharidosis_type_1'] | CCAGGCCGCCGCCCAGGTCTTGGACCCCCTTGAGCCAGCGCTTCCTGATGTGGGGCGGGAGGCTGGCCTGCATGGAGATGGGGTTCATCTTGAGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAG... | CCAGGCCGCCGCCCAGGTCTTGGACCCCCTTGAGCCAGCGCTTCCTGATGTGGGGCGGGAGGCTGGCCTGCATGGAGATGGGGTTCATCTTGAGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAG... | pathogenic | 78,777 |
The chromosome 4, position 1003362 genetic variant in gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Mucopolysaccharidosis_type_1'] | GCCAGCGCTTCCTGATGTGGGGCGGGAGGCTGGCCTGCATGGAGATGGGGTTCATCTTGAGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCC... | GCCAGCGCTTCCTGATGTGGGGCGGGAGGCTGGCCTGCATGGAGATGGGGTTCATCTTGAGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCC... | pathogenic | 78,779 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 1003403, gene IDUA (alpha-L-iduronidase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Mucopolysaccharidosis_type_1'] | GAGATGGGGTTCATCTTGAGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGC... | GAGATGGGGTTCATCTTGAGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGC... | pathogenic | 78,781 |
Evaluate the clinical significance of the mutation at chromosome 4, position 1003421 in gene IDUA (alpha-L-iduronidase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | AGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAACTAC... | AGTCAGACGCCCTTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAACTAC... | pathogenic | 78,785 |
The chromosome 4, position 1003433 genetic variant in gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | TTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAACTACTACGATGCCTGC... | TTCATCACCTTGCACCCTCCCTCCGTGGGAGTCACTGAGGCGAGATTCACCTGTGCTGGGGGGACAGCAAGGCTCCTCTGCAGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAACTACTACGATGCCTGC... | pathogenic | 78,786 |
Gene IDUA (alpha-L-iduronidase) variant at chromosome 4, position 1003587—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis_type_1'] | GACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAACTACTACGATGCCTGCTCGGAGGGTCTGCGCGCCGCCAGCCCCGCCCTGCGGCTGGGAGGCCCCGGCGACTCCTTCCACACCCCACCGCGATCCCCGCTGAGCTGGGGCCTCCTGCGCCACTGCCACGACGGTACCAACTTCTTCACTGGGGAGGCGGGCGTGCGGCTGG... | GACAACGTCTCCATGACCATGCAAGGTGTGCACCGCTTCCTGGGGTCCTGCCCGGCTGAAAGGGGGCAGAGGAAGGCAGGAGCAGAGGCTAAGCCGCTCATCCCCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAACTACTACGATGCCTGCTCGGAGGGTCTGCGCGCCGCCAGCCCCGCCCTGCGGCTGGGAGGCCCCGGCGACTCCTTCCACACCCCACCGCGATCCCCGCTGAGCTGGGGCCTCCTGCGCCACTGCCACGACGGTACCAACTTCTTCACTGGGGAGGCGGGCGTGCGGCTGG... | pathogenic | 78,792 |
Clinical classification of chromosome 4, position 1004048, gene IDUA (alpha-L-iduronidase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis_type_1'] | TCCATCCTGGAGCAGGAGAAGGTCGTCGCGCAGCAGATCCGGCAGCTCTTCCCCAAGTTCGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCCGGCCACCTTCCTCCCGAGACGGGACAGGCGAGCGGTGGCCGCGCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTC... | TCCATCCTGGAGCAGGAGAAGGTCGTCGCGCAGCAGATCCGGCAGCTCTTCCCCAAGTTCGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCCGGCCACCTTCCTCCCGAGACGGGACAGGCGAGCGGTGGCCGCGCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTC... | pathogenic | 78,802 |
Evaluate the clinical significance of the mutation at chromosome 4, position 1004082 in gene IDUA (alpha-L-iduronidase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mucopolysaccharidosis_type_1'] | AGATCCGGCAGCTCTTCCCCAAGTTCGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCCGGCCACCTTCCTCCCGAGACGGGACAGGCGAGCGGTGGCCGCGCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCC... | AGATCCGGCAGCTCTTCCCCAAGTTCGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCCGGCCACCTTCCTCCCGAGACGGGACAGGCGAGCGGTGGCCGCGCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCC... | pathogenic | 78,807 |
Variant chromosome 4, position 1004096, gene IDUA (alpha-L-iduronidase): benign or pathogenic? Disease(s)? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | TTCCCCAAGTTCGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCCGGCCACCTTCCTCCCGAGACGGGACAGGCGAGCGGTGGCCGCGCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCG... | TTCCCCAAGTTCGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCCGGCCACCTTCCTCCCGAGACGGGACAGGCGAGCGGTGGCCGCGCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCG... | pathogenic | 78,808 |
Regarding the variant at chromosome 4 and position 1004111, affecting gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | GACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCCGGCCACCTTCCTCCCGAGACGGGACAGGCGAGCGGTGGCCGCGCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAG... | GACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCCGGCCACCTTCCTCCCGAGACGGGACAGGCGAGCGGTGGCCGCGCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAG... | pathogenic | 78,809 |
Considering the variant on chromosome 4, location 1004283, involving gene IDUA (alpha-L-iduronidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-S'] | GCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCC... | GCCACCCGGTCCCAGCTGCCCTGGACACCCGCAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCC... | pathogenic | 78,813 |
Variant in IDUA (alpha-L-iduronidase), chromosome 4, position 1004320—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | ATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTC... | ATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTC... | pathogenic | 78,823 |
Is the genetic mutation found on chromosome 4 at position 1004327, within the gene IDUA (alpha-L-iduronidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | AGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGT... | AGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGGTGAGCCGGGGCCGCTGGGGTGGGCCGGCCAGGGCCCTCCAGGCTGGGGAGCGGCTCCTGCGAAGGCCCCGCTGCGGGGAGCGCACTTCCTCCAGCCGCGCGCTTCCCGGGGT... | pathogenic | 78,824 |
Gene FGFR3 (fibroblast growth factor receptor 3) variant at chromosome 4, position 1793812—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GGAGGCTGAGACAGGAGAATCACTTCAATCAGGGAGGCAGAGATTGCTTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGCAGGGCCAATGTGCTGCTGTGCCTTGGGGAACGGTGTCCTGGGAGCGGACCTGGCTGGCAGTGACCTGGGGCTGTGCACTGGAGGGGGCTGGACAGTGCACTTGGAGGTGGGTGAGCCTGGGCCCCAAGACGGTCTGGGGACATGGGCTTGGCCAGAGCAGGAAATGAGGGTGGCCAAGGACAGGTGC... | GGAGGCTGAGACAGGAGAATCACTTCAATCAGGGAGGCAGAGATTGCTTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGCAGGGCCAATGTGCTGCTGTGCCTTGGGGAACGGTGTCCTGGGAGCGGACCTGGCTGGCAGTGACCTGGGGCTGTGCACTGGAGGGGGCTGGACAGTGCACTTGGAGGTGGGTGAGCCTGGGCCCCAAGACGGTCTGGGGACATGGGCTTGGCCAGAGCAGGAAATGAGGGTGGCCAAGGACAGGTGC... | benign | 78,905 |
Clinical classification of chromosome 4, position 1803846, gene FGFR3 (fibroblast growth factor receptor 3): benign or pathogenic? Disease(s) if pathogenic? | benign | GGAGGGGGTGGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGGACGGCACACCCTACGTTACCGTGCTCAAGGTGGGCCACCGTGTGCACGTGGGTGCCGCCGCTGGGGCTCCTGGGCTGGCCCCAAGGGTGCCCCTTGGCTGCGGGTTGCGTGAGGATTTGGG... | GGAGGGGGTGGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACAGCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGGACGGCACACCCTACGTTACCGTGCTCAAGGTGGGCCACCGTGTGCACGTGGGTGCCGCCGCTGGGGCTCCTGGGCTGGCCCCAAGGGTGCCCCTTGGCTGCGGGTTGCGTGAGGATTTGGG... | benign | 78,976 |
For chromosome 4, position 1849227, gene LETM1 (leucine zipper and EF-hand containing transmembrane protein 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AAAAAGAAAAAAATTTAGCAAGGCATGTTGGTAATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGAATGGCTTGAGCCTGGGAGATCAAAGCTGCAGTGAGCCATGATTGCACCACTGCACTCTAGCCTGGGCAATGAACAGAATGAGATCCTGTCTCAAAAAAAAAAAAAAAAGTAATATTCCTTCCCAACTGGTTTAATGACACTTCAGATACAATCCCAAAAAGACTGTTTTAGAAGTAAAATGGTTCAGCTCATCTAGAAGGAAGGTCCAGACTGACGAGGTTTGGGGGAACTGGTCCCCAGGGAGGA... | AAAAAGAAAAAAATTTAGCAAGGCATGTTGGTAATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGAATGGCTTGAGCCTGGGAGATCAAAGCTGCAGTGAGCCATGATTGCACCACTGCACTCTAGCCTGGGCAATGAACAGAATGAGATCCTGTCTCAAAAAAAAAAAAAAAAGTAATATTCCTTCCCAACTGGTTTAATGACACTTCAGATACAATCCCAAAAAGACTGTTTTAGAAGTAAAATGGTTCAGCTCATCTAGAAGGAAGGTCCAGACTGACGAGGTTTGGGGGAACTGGTCCCCAGGGAGGA... | benign | 79,080 |
Variant at chromosome position 1938448, chromosome 4, gene NSD2 (nuclear receptor binding SET domain protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['4p_partial_monosomy_syndrome', 'Global_developmental_delay', 'NSD2-related_disorder', 'Neurodevelopmental_delay', 'Rauch-Steindl_syndrome'] | GTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGATCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATACAAAAATTAGTCGGGTGTGGTGGTGCATGCCTGTAATCTCAGCTACTCGGGATGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTTCTGACAGAGTAGTTGTATATTTGTGAT... | GTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGATCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATACAAAAATTAGTCGGGTGTGGTGGTGCATGCCTGTAATCTCAGCTACTCGGGATGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAAGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTTCTGACAGAGTAGTTGTATATTTGTGAT... | pathogenic | 79,101 |
The mutation in gene NSD2 (nuclear receptor binding SET domain protein 2) at chromosome 4, position 1978831—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Rauch-Steindl_syndrome'] | GGCACATCAGGCGCTCATGCAGCGAAGGCCCTGATCCAGGGTGGCAGAGCCTTTCTTTGTTCCACCAGCCGCACATTCTAGATCTCTGCATCGAGCAGAGAAGATATGTGGTGACGGGGTAGCCCCTGGAACCTCCAGGAGGGATTCAGGCAGCCCAAGGCCCAGCTGCAGAATTGGGGCCCTCATCCATGCTGTGGGGGCGGGGCGGCCAGGAAGGAGGCGACGCTGGGAACTAAAGCCCCTCCTAGGAGAAAGGCCTCTACAACAGTGTCTCCCTGGCAGCCCAGAGGGGCCTGGCCTGGCTGCACTACAGTGGGAAT... | GGCACATCAGGCGCTCATGCAGCGAAGGCCCTGATCCAGGGTGGCAGAGCCTTTCTTTGTTCCACCAGCCGCACATTCTAGATCTCTGCATCGAGCAGAGAAGATATGTGGTGACGGGGTAGCCCCTGGAACCTCCAGGAGGGATTCAGGCAGCCCAAGGCCCAGCTGCAGAATTGGGGCCCTCATCCATGCTGTGGGGGCGGGGCGGCCAGGAAGGAGGCGACGCTGGGAACTAAAGCCCCTCCTAGGAGAAAGGCCTCTACAACAGTGTCTCCCTGGCAGCCCAGAGGGGCCTGGCCTGGCTGCACTACAGTGGGAAT... | pathogenic | 79,118 |
For chromosome 4, position 1978854, gene NSD2 (nuclear receptor binding SET domain protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GAAGGCCCTGATCCAGGGTGGCAGAGCCTTTCTTTGTTCCACCAGCCGCACATTCTAGATCTCTGCATCGAGCAGAGAAGATATGTGGTGACGGGGTAGCCCCTGGAACCTCCAGGAGGGATTCAGGCAGCCCAAGGCCCAGCTGCAGAATTGGGGCCCTCATCCATGCTGTGGGGGCGGGGCGGCCAGGAAGGAGGCGACGCTGGGAACTAAAGCCCCTCCTAGGAGAAAGGCCTCTACAACAGTGTCTCCCTGGCAGCCCAGAGGGGCCTGGCCTGGCTGCACTACAGTGGGAATGGAGGGGCCCAGAGCCCCTGTCC... | GAAGGCCCTGATCCAGGGTGGCAGAGCCTTTCTTTGTTCCACCAGCCGCACATTCTAGATCTCTGCATCGAGCAGAGAAGATATGTGGTGACGGGGTAGCCCCTGGAACCTCCAGGAGGGATTCAGGCAGCCCAAGGCCCAGCTGCAGAATTGGGGCCCTCATCCATGCTGTGGGGGCGGGGCGGCCAGGAAGGAGGCGACGCTGGGAACTAAAGCCCCTCCTAGGAGAAAGGCCTCTACAACAGTGTCTCCCTGGCAGCCCAGAGGGGCCTGGCCTGGCTGCACTACAGTGGGAATGGAGGGGCCCAGAGCCCCTGTCC... | benign | 79,121 |
A genetic alteration at chromosome 4, position 2072975, in gene POLN (DNA polymerase nu)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GACATCCCTGAAGGGTACAGGGGGCCCTGTGCCCCACTTCAAGGGATGCTCTTGGAGCCCAGACCCAGACCTGGGTAAGGAAGTACATGGGAGGGGCTGAGATACCCGGGGGGGGGGGGGTGGCCTGAAAGCAGGACCCCGGGAGCACATTTCCAGGGGCCACCACAGAGACAGGGAACCATGGTACAGGGTGAGGATGCGGCTGAAATCCTGGCTGGCGCACTTTTGAGCCCTGTGACCTTTTGGTGCCTCAGTTTCCCCACGTGCAAAGAGGGGATCGTGTTGGTGCCTCTGTCGCAGCCTGCTGTGAGGTGGAGGTG... | GACATCCCTGAAGGGTACAGGGGGCCCTGTGCCCCACTTCAAGGGATGCTCTTGGAGCCCAGACCCAGACCTGGGTAAGGAAGTACATGGGAGGGGCTGAGATACCCGGGGGGGGGGGGGTGGCCTGAAAGCAGGACCCCGGGAGCACATTTCCAGGGGCCACCACAGAGACAGGGAACCATGGTACAGGGTGAGGATGCGGCTGAAATCCTGGCTGGCGCACTTTTGAGCCCTGTGACCTTTTGGTGCCTCAGTTTCCCCACGTGCAAAGAGGGGATCGTGTTGGTGCCTCTGTCGCAGCCTGCTGTGAGGTGGAGGTG... | benign | 79,129 |
Chromosome 4, position 3074945, gene HTT: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GGATTACAGGCGTGAGCCACCGCACCTCGCTGGAACTTAATTTTTTTAGAGACAGTGTCGCTCTATCACCCAAGCTGGAGTGCAGTGGTGCAATCCTAGCTCACTTGCAGCCTCAAATTCCTGGGTTCAGGTGATCCTCCCACATCAGCCTCCCAAGAACTGGGAACTAACAGCTGTTTCTCTGCTGTCCTTCTCAAGAAAAGGGAGGCTACTGCTACCCCACTGGGGACAATGCTGGGTTTCCCTTTAGGACAGGCTCTGAGACAAGGCGGAGGTGCTGTTTGTGGCCACAGAGCAGGGGACTCTGGGTTGCAGGTGTG... | GGATTACAGGCGTGAGCCACCGCACCTCGCTGGAACTTAATTTTTTTAGAGACAGTGTCGCTCTATCACCCAAGCTGGAGTGCAGTGGTGCAATCCTAGCTCACTTGCAGCCTCAAATTCCTGGGTTCAGGTGATCCTCCCACATCAGCCTCCCAAGAACTGGGAACTAACAGCTGTTTCTCTGCTGTCCTTCTCAAGAAAAGGGAGGCTACTGCTACCCCACTGGGGACAATGCTGGGTTTCCCTTTAGGACAGGCTCTGAGACAAGGCGGAGGTGCTGTTTGTGGCCACAGAGCAGGGGACTCTGGGTTGCAGGTGTG... | benign | 79,219 |
Evaluate this variant at chromosome 4, position 3463401, gene DOK7 (docking protein 7): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3', 'Inborn_genetic_diseases'] | AATCAACCCCTTCCTACTCAGTGGCCAGCCTATTTCTCCATTTGCAACCAGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCC... | AATCAACCCCTTCCTACTCAGTGGCCAGCCTATTTCTCCATTTGCAACCAGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCC... | pathogenic | 79,289 |
Mutation found at chromosome 4 position 3463442, gene DOK7 (docking protein 7): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TTGCAACCAGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCC... | TTGCAACCAGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCC... | pathogenic | 79,290 |
Chromosome 4, position 3463450, gene DOK7 (docking protein 7): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCCTGTAGGGA... | AGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCCTGTAGGGA... | benign | 79,291 |
Benign or pathogenic: chromosome 4, position 3463450, gene DOK7 (docking protein 7) variant? Disease(s) if pathogenic? | benign | AGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCCTGTAGGGA... | AGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCCTGTAGGGA... | benign | 79,292 |
Variant at chromosome 4, position 3463450, gene DOK7 (docking protein 7): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCCTGTAGGGA... | AGCAACCCTGGCTATAACTTCTGGGGAAACTTCTGGCTATAACTTCTGAGGCACGGAGCGGGGCAGGAGCTTGCCCAGGGTCACAGCGCTCTCGGCCAGTCTGGGAGTGGCAGCCAGGCCACCTCCTCCTCCTGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCCTGTAGGGA... | benign | 79,293 |
Does the chromosome 4 mutation at position 3463582 within gene DOK7 (docking protein 7) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCCTGTAGGGATAAGCAAGTGCCAGGCGCCCAGGGCAGCGGATGTGTCTGTGGCTACAGCCCCAACGGCCCCCGCCTCCGCACCGGCTGTCCTGGGCCAGCCCCTTGGGGGCCTGGGATGTGTGGGGAGCATGAATGGGGCTC... | TGCAGGAAGCTTCCTCCACCTTTCAGCAGCCCTGGAGCCGCATGGAGCAGGGAAGGGAGTTGTCTACCCTCCGGCATCCTGTGTGTTCCAGGCTGTGTGGGAGCAGGTGCAGCTGCCAGGCATGGCAGGAGCCTGGGCCCGGGCCAGCACTCAGGAATGCAGCAGGGCCCTGCCTCTCCCTGTAGGGATAAGCAAGTGCCAGGCGCCCAGGGCAGCGGATGTGTCTGTGGCTACAGCCCCAACGGCCCCCGCCTCCGCACCGGCTGTCCTGGGCCAGCCCCTTGGGGGCCTGGGATGTGTGGGGAGCATGAATGGGGCTC... | benign | 79,299 |
Chromosome 4, position 3476298, gene DOK7 (docking protein 7): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATCTCCTAAGAAACCAAAATCAGTGCCAAAACCCCATAATGAGCAAAACAGTAGAATGTCCACTGAGTTGAGTCCTGGTCCTACCCTGGCACCCACCCAATAATCCCAGCAGCCACAGCTGCCCTCCCTTTAAAAACTTGCTATTTTAGGCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAAC... | ATCTCCTAAGAAACCAAAATCAGTGCCAAAACCCCATAATGAGCAAAACAGTAGAATGTCCACTGAGTTGAGTCCTGGTCCTACCCTGGCACCCACCCAATAATCCCAGCAGCCACAGCTGCCCTCCCTTTAAAAACTTGCTATTTTAGGCTGGGCACGGTGGCTCATACCTGTAATTCCAGTACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGCCCAGGAGATAGAGACCAGACCACCCTGGGCAACGTGGCGAAACCTCGTCTCTACTAAAAATACAAAAATGATGGCCAGGTGCAGTGGCTCATGCCTGTAAAC... | benign | 79,319 |
Is the genetic variant on chromosome 4, position 3485601, gene DOK7 (docking protein 7), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TGTGCTCCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGG... | TGTGCTCCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGG... | pathogenic | 79,355 |
Clinical significance of chromosome 4, position 3489765, gene DOK7: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | CTGGCCCACCAGTTACTGGACGGGAAATGGTGGGAGGTTGTGTCCTGCATCCTGACCCTGGTGTCACCGAGGGGCCACTCTCCGTCCCACCTGTGGGGCATTGGCTTTGAGGGTGGCCCTGGTCGGAATGTCCCAGGGCTGAGGGGCAGTTGTGCTGTCCTGTCACTGTGCTTGTCTTCAGCCTGGACCCTCAGTGCACCAAGGAGCCAGGACTGGTGCCTGCTGTCCTGCCCACGTGGCTGAATGTGTCTGTGAAAGTGCCAGGAGCTGCTAAGCCGTGTGGCCTGTGGGCTCCATGGCCACCAGCAGGCCGTGTCGGG... | CTGGCCCACCAGTTACTGGACGGGAAATGGTGGGAGGTTGTGTCCTGCATCCTGACCCTGGTGTCACCGAGGGGCCACTCTCCGTCCCACCTGTGGGGCATTGGCTTTGAGGGTGGCCCTGGTCGGAATGTCCCAGGGCTGAGGGGCAGTTGTGCTGTCCTGTCACTGTGCTTGTCTTCAGCCTGGACCCTCAGTGCACCAAGGAGCCAGGACTGGTGCCTGCTGTCCTGCCCACGTGGCTGAATGTGTCTGTGAAAGTGCCAGGAGCTGCTAAGCCGTGTGGCCTGTGGGCTCCATGGCCACCAGCAGGCCGTGTCGGG... | pathogenic | 79,366 |
Considering the genetic mutation at chromosome 4, position 3492722, impacting DOK7 (docking protein 7): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCCCCGCATTCCTTCCTTCCTTCCCCCCTCATGCATTCCTTCATTTCCCCCCACTCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCCTTCTTTCCTTCTCCCCCGGCTCATTCATTCCTTCCTCTGCCCCCCCGCTCATTCATTCCTGCCTTCCCCCCATTCATTCCTTCCTTCCCCCCCACTCATTTCATTCCTTCATTACCCTCCTGCTCATTAATTTCTTCCTTCTCTCCTCTGCTCATTCATTCCTTCCTTCTTCCCCTGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTTCCCTCCTGCTCATTCA... | TCCCCGCATTCCTTCCTTCCTTCCCCCCTCATGCATTCCTTCATTTCCCCCCACTCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCCTTCTTTCCTTCTCCCCCGGCTCATTCATTCCTTCCTCTGCCCCCCCGCTCATTCATTCCTGCCTTCCCCCCATTCATTCCTTCCTTCCCCCCCACTCATTTCATTCCTTCATTACCCTCCTGCTCATTAATTTCTTCCTTCTCTCCTCTGCTCATTCATTCCTTCCTTCTTCCCCTGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTTCCCTCCTGCTCATTCA... | benign | 79,374 |
Mutation found at chromosome 4 position 3492937, gene DOK7 (docking protein 7): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TTAATTTCTTCCTTCTCTCCTCTGCTCATTCATTCCTTCCTTCTTCCCCTGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTTCCCTCCTGCTCATTCATTCCTTCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCT... | TTAATTTCTTCCTTCTCTCCTCTGCTCATTCATTCCTTCCTTCTTCCCCTGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTTCCCTCCTGCTCATTCATTCCTTCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCT... | pathogenic | 79,385 |
Variant at chromosome position 3492937, chromosome 4, gene DOK7 (docking protein 7): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1'] | TTAATTTCTTCCTTCTCTCCTCTGCTCATTCATTCCTTCCTTCTTCCCCTGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTTCCCTCCTGCTCATTCATTCCTTCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCT... | TTAATTTCTTCCTTCTCTCCTCTGCTCATTCATTCCTTCCTTCTTCCCCTGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTTCCCTCCTGCTCATTCATTCCTTCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCT... | pathogenic | 79,386 |
A genetic variant on chromosome 4, position 3492986, affects the gene DOK7 (docking protein 7). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTTCCCTCCTGCTCATTCATTCCTTCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCT... | TGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTTCCCTCCTGCTCATTCATTCCTTCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCT... | pathogenic | 79,389 |
The mutation in gene DOK7 (docking protein 7) at chromosome 4, position 3493106—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Abnormality_of_the_musculature', 'Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_10', 'DOK7-related_disorder', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3', 'Inborn_genetic_diseases'] | CCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCT... | CCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCT... | pathogenic | 79,394 |
Is the chromosome 4, position 3493119 variant in DOK7 (docking protein 7) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCC... | TTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCC... | pathogenic | 79,395 |
Classify the chromosome 4 variant at position 3493124 affecting gene DOK7 (docking protein 7) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCT... | TCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCT... | pathogenic | 79,397 |
Does the chromosome 4 mutation at position 3493124 within gene DOK7 (docking protein 7) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCT... | TCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCT... | pathogenic | 79,398 |
Variant in DOK7 (docking protein 7), chromosome 4, position 3493231—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCT... | TCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCT... | pathogenic | 79,408 |
Considering the genetic mutation at chromosome 4, position 3493242, impacting DOK7 (docking protein 7): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_10', 'DOK7-related_disorder', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3', 'Rett_syndrome'] | CATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCT... | CATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCT... | pathogenic | 79,409 |
Regarding the variant found on chromosome 4 at position 3493242 in gene DOK7 (docking protein 7): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | CATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCT... | CATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCT... | pathogenic | 79,410 |
Gene DOK7 (docking protein 7) variant at chromosome position 3493273 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCC... | TCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCC... | pathogenic | 79,412 |
Located at chromosome 4 position 3493305, the variant affecting gene DOK7 (docking protein 7)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGG... | TCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGG... | pathogenic | 79,415 |
Considering the genetic mutation at chromosome 4, position 3493306, impacting DOK7 (docking protein 7): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | CATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGT... | CATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGT... | pathogenic | 79,417 |
Gene DOK7 (docking protein 7) variant at chromosome position 3493316 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTA... | TTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTA... | pathogenic | 79,419 |
Evaluate the clinical significance of the mutation at chromosome 4, position 3493316 in gene DOK7 (docking protein 7): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | TTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTA... | TTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTA... | pathogenic | 79,420 |
Is the genetic mutation found on chromosome 4 at position 3493340, within the gene DOK7 (docking protein 7), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1'] | CCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGA... | CCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGA... | pathogenic | 79,422 |
Is the genetic change at chromosome 4, position 3493358, within gene DOK7 (docking protein 7) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | CCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGC... | CCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGC... | pathogenic | 79,423 |
Gene mutation in DOK7 (docking protein 7) at chromosome 4, position 3493358—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_3'] | CCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGC... | CCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGC... | pathogenic | 79,424 |
Does the variant on chromosome 4 at location 3493422 affecting gene DOK7 (docking protein 7) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1'] | CCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGCCCTGAGAGCCTTTGAATCCTTTCCTGCCCACCAGCTTGTGGCTGGGGGAGACCAAGGCCCTGCA... | CCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGCCCTGAGAGCCTTTGAATCCTTTCCTGCCCACCAGCTTGTGGCTGGGGGAGACCAAGGCCCTGCA... | pathogenic | 79,428 |
Mutation found at chromosome 4 position 3493461, gene DOK7 (docking protein 7): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1'] | TCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGCCCTGAGAGCCTTTGAATCCTTTCCTGCCCACCAGCTTGTGGCTGGGGGAGACCAAGGCCCTGCATGTTGGTTTTACCTTCTGTGCCCAGACAAAAGGCTCTAA... | TCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGCCCTGAGAGCCTTTGAATCCTTTCCTGCCCACCAGCTTGTGGCTGGGGGAGACCAAGGCCCTGCATGTTGGTTTTACCTTCTGTGCCCAGACAAAAGGCTCTAA... | pathogenic | 79,431 |
The mutation impacting DOK7 (docking protein 7) on chromosome 4 at position 3493496: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormality_of_the_musculature', 'Congenital_myasthenic_syndrome_10', 'Fetal_akinesia_deformation_sequence_1'] | TCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGCCCTGAGAGCCTTTGAATCCTTTCCTGCCCACCAGCTTGTGGCTGGGGGAGACCAAGGCCCTGCATGTTGGTTTTACCTTCTGTGCCCAGACAAAAGGCTCTAAGGCAGGTGAGCTGGCTGCCCAGGAGCAGAGGCACC... | TCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGCCCTGAGAGCCTTTGAATCCTTTCCTGCCCACCAGCTTGTGGCTGGGGGAGACCAAGGCCCTGCATGTTGGTTTTACCTTCTGTGCCCAGACAAAAGGCTCTAAGGCAGGTGAGCTGGCTGCCCAGGAGCAGAGGCACC... | pathogenic | 79,432 |
Variant in gene MSX1 (msh homeobox 1), located at chromosome 4 position 4860398: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGGGCCGAGTGAGCCGCCAATCACCTCCGCTCACTCCCTGAGAGCCGCTGGCCTGGGCCGCAGGAGGAGAGGCCATAAAGCGACAGGCGCAGAAAATGGCCAAGCCCCGACCCCGCTTCAGGCAGATCTTGCATCTCCCCTGACCCCAACTCATTTTTTCTGTCTTTATTATTATTATTATTATTAACAGCAAACATTAAATCACGTTTTCTCCGAAATTGGCAAAAGAAGAGTTCTCAAGTCCCACACTAGAGTCCACCTCCAGGAACTTTCCTCTTTTCCCAGCCCCCTCCCCCAAATGTGCCTCTCCCCTCCAGGAT... | AGGGCCGAGTGAGCCGCCAATCACCTCCGCTCACTCCCTGAGAGCCGCTGGCCTGGGCCGCAGGAGGAGAGGCCATAAAGCGACAGGCGCAGAAAATGGCCAAGCCCCGACCCCGCTTCAGGCAGATCTTGCATCTCCCCTGACCCCAACTCATTTTTTCTGTCTTTATTATTATTATTATTATTAACAGCAAACATTAAATCACGTTTTCTCCGAAATTGGCAAAAGAAGAGTTCTCAAGTCCCACACTAGAGTCCACCTCCAGGAACTTTCCTCTTTTCCCAGCCCCCTCCCCCAAATGTGCCTCTCCCCTCCAGGAT... | benign | 79,475 |
Is the genetic change at chromosome 4, position 5563114, within gene EVC2 (EvC ciliary complex subunit 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ATCAGGCTTCAGCCTATAATTTTAAGCCATTTTTTGAAATTTTTGCATGCAATCTACTTTCAACTATGCATAATTCTATCAGAGCCCCTGTAGAAGCAGGAAATTATCAGAAATGCAGACAATTACCTTAAAAAGGTAGAGAAGAACATAGATGTGGTGGACTTTACAGATTCAATTATATCTACTTGCCCAAGAACTTATGGCCCTTAAGTAGTGGAGCAGGATTTGAACTCCAGTCTGCTTATTCCCAAGACCATGCATGCTCCACTCTGCTGTCCTGTGTGTAAAAATCACTCCACTTTCTCTGTTCTCACTCGAGG... | ATCAGGCTTCAGCCTATAATTTTAAGCCATTTTTTGAAATTTTTGCATGCAATCTACTTTCAACTATGCATAATTCTATCAGAGCCCCTGTAGAAGCAGGAAATTATCAGAAATGCAGACAATTACCTTAAAAAGGTAGAGAAGAACATAGATGTGGTGGACTTTACAGATTCAATTATATCTACTTGCCCAAGAACTTATGGCCCTTAAGTAGTGGAGCAGGATTTGAACTCCAGTCTGCTTATTCCCAAGACCATGCATGCTCCACTCTGCTGTCCTGTGTGTAAAAATCACTCCACTTTCTCTGTTCTCACTCGAGG... | pathogenic | 79,494 |
Assess the variant on chromosome 4, position 5568524, impacting EVC2 (EvC ciliary complex subunit 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TTTGACATGGCCCTCAATACACCCCATTCTTGCTTGGATTAATTATTCAGTTCCCATTGCTTGAAACCCAAGACTCATAACTGATGTAATGGCCGGATGCTAGCTGCTGGGGACACAAGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGA... | TTTGACATGGCCCTCAATACACCCCATTCTTGCTTGGATTAATTATTCAGTTCCCATTGCTTGAAACCCAAGACTCATAACTGATGTAATGGCCGGATGCTAGCTGCTGGGGACACAAGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGA... | pathogenic | 79,506 |
Is the genetic change at chromosome 4, position 5568539, within gene EVC2 (EvC ciliary complex subunit 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AATACACCCCATTCTTGCTTGGATTAATTATTCAGTTCCCATTGCTTGAAACCCAAGACTCATAACTGATGTAATGGCCGGATGCTAGCTGCTGGGGACACAAGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGAAGCACCAAAAACAAG... | AATACACCCCATTCTTGCTTGGATTAATTATTCAGTTCCCATTGCTTGAAACCCAAGACTCATAACTGATGTAATGGCCGGATGCTAGCTGCTGGGGACACAAGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGAAGCACCAAAAACAAG... | pathogenic | 79,507 |
Is the genetic mutation found on chromosome 4 at position 5568589, within the gene EVC2 (EvC ciliary complex subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'EVC2-related_disorder', 'Ellis-van_Creveld_syndrome', 'Jeune_thoracic_dystrophy'] | ACCCAAGACTCATAACTGATGTAATGGCCGGATGCTAGCTGCTGGGGACACAAGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGAAGCACCAAAAACAAGGTCCACAGGGGTGGTAGGCAGGCAGAAGTGGCCTCCCCGCAGCCACACAC... | ACCCAAGACTCATAACTGATGTAATGGCCGGATGCTAGCTGCTGGGGACACAAGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGAAGCACCAAAAACAAGGTCCACAGGGGTGGTAGGCAGGCAGAAGTGGCCTCCCCGCAGCCACACAC... | pathogenic | 79,509 |
Gene mutation in EVC2 (EvC ciliary complex subunit 2) at chromosome 4, position 5568626—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GCTGCTGGGGACACAAGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGAAGCACCAAAAACAAGGTCCACAGGGGTGGTAGGCAGGCAGAAGTGGCCTCCCCGCAGCCACACACGTTCCTACTCCAGAGTCACCTTGAATACTTGCCACCT... | GCTGCTGGGGACACAAGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGAAGCACCAAAAACAAGGTCCACAGGGGTGGTAGGCAGGCAGAAGTGGCCTCCCCGCAGCCACACACGTTCCTACTCCAGAGTCACCTTGAATACTTGCCACCT... | pathogenic | 79,512 |
Is the genetic mutation found on chromosome 4 at position 5568641, within the gene EVC2 (EvC ciliary complex subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGAAGCACCAAAAACAAGGTCCACAGGGGTGGTAGGCAGGCAGAAGTGGCCTCCCCGCAGCCACACACGTTCCTACTCCAGAGTCACCTTGAATACTTGCCACCTGCATGTCCGTGCACG... | AGAATAGTGCATGCCCTGCCCTCAGAGATTGGGTTAGTGGCCTGGGACTCCAGAGTCATCCAGGCTGCCTGGCCATGAGGCTGGGCAAAGAAAGGCCATGCTCATGCCCATGGTGACATTGACCTGAAGCCCTCTTGCCTCGTCCCAGCTTGGCCTGTCCATCTCTCCCCACTGGCCTCCCAAACTAAGCTGGCTGAAGGGGAAGCACCAAAAACAAGGTCCACAGGGGTGGTAGGCAGGCAGAAGTGGCCTCCCCGCAGCCACACACGTTCCTACTCCAGAGTCACCTTGAATACTTGCCACCTGCATGTCCGTGCACG... | pathogenic | 79,513 |
Located at chromosome 4 position 5576272, the variant affecting gene EVC2 (EvC ciliary complex subunit 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AGGGCTCTGTATCAGGAAGGGAGGTGAGTCTGCAACTCTGGCCAAGGATGAGAAAGGTTGGCTGATCTCCACTCAGAGAGGTGTAGTGTGGGGTGCAGTATCACTGATTGATGGCTCTGGCCCAGTTTTCTCTTACCCACTTTCTTCCCGGTAGAACCTACTTTTTGTATATTAAACTTAGTTAAAGATTGAGAAGAAGGACAATATTTGGGTGCCTGCCAAATCACAGAAAAGACATCGACTGGGGCACATGTGATTATGGTTGCGGTTGCTGCCATTAGCACTGATTGAGCACCCTCTGTGTGCTGGGCCCATGCTAG... | AGGGCTCTGTATCAGGAAGGGAGGTGAGTCTGCAACTCTGGCCAAGGATGAGAAAGGTTGGCTGATCTCCACTCAGAGAGGTGTAGTGTGGGGTGCAGTATCACTGATTGATGGCTCTGGCCCAGTTTTCTCTTACCCACTTTCTTCCCGGTAGAACCTACTTTTTGTATATTAAACTTAGTTAAAGATTGAGAAGAAGGACAATATTTGGGTGCCTGCCAAATCACAGAAAAGACATCGACTGGGGCACATGTGATTATGGTTGCGGTTGCTGCCATTAGCACTGATTGAGCACCCTCTGTGTGCTGGGCCCATGCTAG... | pathogenic | 79,523 |
Considering the variant on chromosome 4, location 5576404, involving gene EVC2 (EvC ciliary complex subunit 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome', 'Inborn_genetic_diseases'] | TTACCCACTTTCTTCCCGGTAGAACCTACTTTTTGTATATTAAACTTAGTTAAAGATTGAGAAGAAGGACAATATTTGGGTGCCTGCCAAATCACAGAAAAGACATCGACTGGGGCACATGTGATTATGGTTGCGGTTGCTGCCATTAGCACTGATTGAGCACCCTCTGTGTGCTGGGCCCATGCTAGAGCTTCGCACACATCTGCTCTGCAGGTTCCAAGGCTGGCTTTTCATCACCATCCTGGAGGTGAGGAAATGTGGATTCTGAGAAAAAGATGAAGTGACGTGCTGGCAAGGGGTGGCCTCAGACCCTGCCAGTA... | TTACCCACTTTCTTCCCGGTAGAACCTACTTTTTGTATATTAAACTTAGTTAAAGATTGAGAAGAAGGACAATATTTGGGTGCCTGCCAAATCACAGAAAAGACATCGACTGGGGCACATGTGATTATGGTTGCGGTTGCTGCCATTAGCACTGATTGAGCACCCTCTGTGTGCTGGGCCCATGCTAGAGCTTCGCACACATCTGCTCTGCAGGTTCCAAGGCTGGCTTTTCATCACCATCCTGGAGGTGAGGAAATGTGGATTCTGAGAAAAAGATGAAGTGACGTGCTGGCAAGGGGTGGCCTCAGACCCTGCCAGTA... | pathogenic | 79,527 |
Variant chromosome 4, position 5584734, gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? Disease(s)? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GGTATTTGGGTGGGACTACATCTCATGTTGAATTGTAATCCCCAATGTTGCAGGTGGAGCTTGGTGGGAGGTGACTGGATCACGGGGGTCCTTCATGAATTGTTCAGCACGATCCCTTCGGTGCTGTTCTCGTGATGGAGTTATTATGAGATCTGGTTGTTTAAAAGTGTGTGGCACCTCCCCCTACTTCTCTTCCTCCTGCTCTGGCTATGTAAGACATGCCTGCTTCCCCTTCACCTTCTACCATGATTGTAAGTTTCCTGAGTCCTCCCCAGAAGCTGGGCAGATGCATCAGGCTTCCTGTATAGCCTGTGGAACCA... | GGTATTTGGGTGGGACTACATCTCATGTTGAATTGTAATCCCCAATGTTGCAGGTGGAGCTTGGTGGGAGGTGACTGGATCACGGGGGTCCTTCATGAATTGTTCAGCACGATCCCTTCGGTGCTGTTCTCGTGATGGAGTTATTATGAGATCTGGTTGTTTAAAAGTGTGTGGCACCTCCCCCTACTTCTCTTCCTCCTGCTCTGGCTATGTAAGACATGCCTGCTTCCCCTTCACCTTCTACCATGATTGTAAGTTTCCTGAGTCCTCCCCAGAAGCTGGGCAGATGCATCAGGCTTCCTGTATAGCCTGTGGAACCA... | pathogenic | 79,534 |
Variant chromosome 4, position 5584822, gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? Disease(s)? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TCCTTCATGAATTGTTCAGCACGATCCCTTCGGTGCTGTTCTCGTGATGGAGTTATTATGAGATCTGGTTGTTTAAAAGTGTGTGGCACCTCCCCCTACTTCTCTTCCTCCTGCTCTGGCTATGTAAGACATGCCTGCTTCCCCTTCACCTTCTACCATGATTGTAAGTTTCCTGAGTCCTCCCCAGAAGCTGGGCAGATGCATCAGGCTTCCTGTATAGCCTGTGGAACCATGAGCCAATTAAACCTCTTTCCTTTATAAATTACCCAGTCTCAGGGTATTTCTTATAGCAATGCAAGAACAGACTAATATAAAGACAT... | TCCTTCATGAATTGTTCAGCACGATCCCTTCGGTGCTGTTCTCGTGATGGAGTTATTATGAGATCTGGTTGTTTAAAAGTGTGTGGCACCTCCCCCTACTTCTCTTCCTCCTGCTCTGGCTATGTAAGACATGCCTGCTTCCCCTTCACCTTCTACCATGATTGTAAGTTTCCTGAGTCCTCCCCAGAAGCTGGGCAGATGCATCAGGCTTCCTGTATAGCCTGTGGAACCATGAGCCAATTAAACCTCTTTCCTTTATAAATTACCCAGTCTCAGGGTATTTCTTATAGCAATGCAAGAACAGACTAATATAAAGACAT... | pathogenic | 79,540 |
Variant on chromosome 4, at position 5622643, affecting EVC2 (EvC ciliary complex subunit 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAAGGCTGCAACCTTTTAGAATCTTAAATAAGCAAAGTATATGAGCAGACTCACATTGCGTACACTGTGAGTCGATCCTCTTTAACCCTTGGAAAAATCATACACTTCTCTGATAGCCAAGTGAGAGTTCTCTTTTTCCCATTAAATGGCTAAATCAGCAGTTGCTTTAGTAACACTCCCTGCAAAACGAATCCAAACGAAGTTGAAGAAAATGACCAGCTGGTAATAGGAATGCCAAAGTTAATTCACTTGCTACGAAGAGTCCAAAGCCAGTTTGAACATGAGAAGAGAATTTTCTGGAATGTAGGCTAAGCTGAATA... | AAAGGCTGCAACCTTTTAGAATCTTAAATAAGCAAAGTATATGAGCAGACTCACATTGCGTACACTGTGAGTCGATCCTCTTTAACCCTTGGAAAAATCATACACTTCTCTGATAGCCAAGTGAGAGTTCTCTTTTTCCCATTAAATGGCTAAATCAGCAGTTGCTTTAGTAACACTCCCTGCAAAACGAATCCAAACGAAGTTGAAGAAAATGACCAGCTGGTAATAGGAATGCCAAAGTTAATTCACTTGCTACGAAGAGTCCAAAGCCAGTTTGAACATGAGAAGAGAATTTTCTGGAATGTAGGCTAAGCTGAATA... | benign | 79,567 |
Considering the variant on chromosome 4, location 5622981, involving gene EVC2 (EvC ciliary complex subunit 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TCATGGGAATAAGAAATGACATTTAAGGATCTGATTTTTATGGACTAAGAGAAGACAGAATCTTGTTTTCCTTGTCAAGAAAGCAAAAGCTAACAAGGATTAAAAAATAAATGAGGCCAGAATCACAGAAGAGAGAGATGGGAAAGGGCCAAAGGTCACTTAACGCAAACCAAGATAGTATCAATCTTTGCAAACACCTGGGGACCTATTTTCCTGGTAGCAAGGTCGGATCCTGGGGATGAAAACTGTGTAGGAAAGGAAAGGACATTAAATCATGGAGGCCAGCAAGATTCTAGGAGATAACTTCTACAAGGGAGGAG... | TCATGGGAATAAGAAATGACATTTAAGGATCTGATTTTTATGGACTAAGAGAAGACAGAATCTTGTTTTCCTTGTCAAGAAAGCAAAAGCTAACAAGGATTAAAAAATAAATGAGGCCAGAATCACAGAAGAGAGAGATGGGAAAGGGCCAAAGGTCACTTAACGCAAACCAAGATAGTATCAATCTTTGCAAACACCTGGGGACCTATTTTCCTGGTAGCAAGGTCGGATCCTGGGGATGAAAACTGTGTAGGAAAGGAAAGGACATTAAATCATGGAGGCCAGCAAGATTCTAGGAGATAACTTCTACAAGGGAGGAG... | pathogenic | 79,583 |
Gene mutation in EVC2 (EvC ciliary complex subunit 2) at chromosome 4, position 5625775—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AGGAGACAGACCGCCTGGGTTCCAGTCCTGGCTCCTCTACTCACAAGCTGAGTGACCCAAAGCAGGTATTTTACCCTCTCTGCGCCTCCATTTCCCTATCTGTAAAATGGGGATAATAATAGGACCTCCCTTTCAGAAGAGTTGTGAAGATTATGCGAGTTACTTAATACACATACATCTCTTAGAAAAGTGCCTGACATAGAGTAGTTTACGCCAATGAACATCTGTTAGTGTTATTACTATGTGCTAGGCACACAGGATCTGCAAGTTGTAATATTATAAAGGGGGAATCAAAAAGCTAAGATCATTGAGAGACAACT... | AGGAGACAGACCGCCTGGGTTCCAGTCCTGGCTCCTCTACTCACAAGCTGAGTGACCCAAAGCAGGTATTTTACCCTCTCTGCGCCTCCATTTCCCTATCTGTAAAATGGGGATAATAATAGGACCTCCCTTTCAGAAGAGTTGTGAAGATTATGCGAGTTACTTAATACACATACATCTCTTAGAAAAGTGCCTGACATAGAGTAGTTTACGCCAATGAACATCTGTTAGTGTTATTACTATGTGCTAGGCACACAGGATCTGCAAGTTGTAATATTATAAAGGGGGAATCAAAAAGCTAAGATCATTGAGAGACAACT... | pathogenic | 79,595 |
Clinical significance of chromosome 4, position 5625831, gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CCAAAGCAGGTATTTTACCCTCTCTGCGCCTCCATTTCCCTATCTGTAAAATGGGGATAATAATAGGACCTCCCTTTCAGAAGAGTTGTGAAGATTATGCGAGTTACTTAATACACATACATCTCTTAGAAAAGTGCCTGACATAGAGTAGTTTACGCCAATGAACATCTGTTAGTGTTATTACTATGTGCTAGGCACACAGGATCTGCAAGTTGTAATATTATAAAGGGGGAATCAAAAAGCTAAGATCATTGAGAGACAACTTAAATGAGGGGGTCAGCAAAGCTTTCAAGGAAGAAGATCTAAGTGAGACCTAAGGA... | CCAAAGCAGGTATTTTACCCTCTCTGCGCCTCCATTTCCCTATCTGTAAAATGGGGATAATAATAGGACCTCCCTTTCAGAAGAGTTGTGAAGATTATGCGAGTTACTTAATACACATACATCTCTTAGAAAAGTGCCTGACATAGAGTAGTTTACGCCAATGAACATCTGTTAGTGTTATTACTATGTGCTAGGCACACAGGATCTGCAAGTTGTAATATTATAAAGGGGGAATCAAAAAGCTAAGATCATTGAGAGACAACTTAAATGAGGGGGTCAGCAAAGCTTTCAAGGAAGAAGATCTAAGTGAGACCTAAGGA... | pathogenic | 79,597 |
Evaluate if the mutation on chromosome 4 at position 5628743 in EVC2 (EvC ciliary complex subunit 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GTGGACTCAGTAAAGCAGACGGCCCTCCCCAGCATGAGCGGGCATCATCCAATATGCTGAGGTCCTGAATAGAACACAGAGGCAGAGGAAAGAGGAATTTGTCCCTTTTTTTTCTGCCTTACAGCTAACAGTGGGACCTCTCATCTCATCTTTTCCTGCCCTTGGACTGGGACTTACACCATCAGCTCCCTCTGGTTCTCAGGCCTTCAGATTTGGACTGAATTATACCATTGGCTTTCCTGGGTCTCCAGCTTGCAGGCAGCAGACAATGGGATTTCTCAACCTCCATAATCACTTGAGCTAGTTCCTATTTATATAGG... | GTGGACTCAGTAAAGCAGACGGCCCTCCCCAGCATGAGCGGGCATCATCCAATATGCTGAGGTCCTGAATAGAACACAGAGGCAGAGGAAAGAGGAATTTGTCCCTTTTTTTTCTGCCTTACAGCTAACAGTGGGACCTCTCATCTCATCTTTTCCTGCCCTTGGACTGGGACTTACACCATCAGCTCCCTCTGGTTCTCAGGCCTTCAGATTTGGACTGAATTATACCATTGGCTTTCCTGGGTCTCCAGCTTGCAGGCAGCAGACAATGGGATTTCTCAACCTCCATAATCACTTGAGCTAGTTCCTATTTATATAGG... | benign | 79,607 |
A genetic alteration at chromosome 4, position 5628743, in gene EVC2 (EvC ciliary complex subunit 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GTGGACTCAGTAAAGCAGACGGCCCTCCCCAGCATGAGCGGGCATCATCCAATATGCTGAGGTCCTGAATAGAACACAGAGGCAGAGGAAAGAGGAATTTGTCCCTTTTTTTTCTGCCTTACAGCTAACAGTGGGACCTCTCATCTCATCTTTTCCTGCCCTTGGACTGGGACTTACACCATCAGCTCCCTCTGGTTCTCAGGCCTTCAGATTTGGACTGAATTATACCATTGGCTTTCCTGGGTCTCCAGCTTGCAGGCAGCAGACAATGGGATTTCTCAACCTCCATAATCACTTGAGCTAGTTCCTATTTATATAGG... | GTGGACTCAGTAAAGCAGACGGCCCTCCCCAGCATGAGCGGGCATCATCCAATATGCTGAGGTCCTGAATAGAACACAGAGGCAGAGGAAAGAGGAATTTGTCCCTTTTTTTTCTGCCTTACAGCTAACAGTGGGACCTCTCATCTCATCTTTTCCTGCCCTTGGACTGGGACTTACACCATCAGCTCCCTCTGGTTCTCAGGCCTTCAGATTTGGACTGAATTATACCATTGGCTTTCCTGGGTCTCCAGCTTGCAGGCAGCAGACAATGGGATTTCTCAACCTCCATAATCACTTGAGCTAGTTCCTATTTATATAGG... | benign | 79,608 |
Is the chromosome 4, position 5628743 variant in EVC2 (EvC ciliary complex subunit 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTGGACTCAGTAAAGCAGACGGCCCTCCCCAGCATGAGCGGGCATCATCCAATATGCTGAGGTCCTGAATAGAACACAGAGGCAGAGGAAAGAGGAATTTGTCCCTTTTTTTTCTGCCTTACAGCTAACAGTGGGACCTCTCATCTCATCTTTTCCTGCCCTTGGACTGGGACTTACACCATCAGCTCCCTCTGGTTCTCAGGCCTTCAGATTTGGACTGAATTATACCATTGGCTTTCCTGGGTCTCCAGCTTGCAGGCAGCAGACAATGGGATTTCTCAACCTCCATAATCACTTGAGCTAGTTCCTATTTATATAGG... | GTGGACTCAGTAAAGCAGACGGCCCTCCCCAGCATGAGCGGGCATCATCCAATATGCTGAGGTCCTGAATAGAACACAGAGGCAGAGGAAAGAGGAATTTGTCCCTTTTTTTTCTGCCTTACAGCTAACAGTGGGACCTCTCATCTCATCTTTTCCTGCCCTTGGACTGGGACTTACACCATCAGCTCCCTCTGGTTCTCAGGCCTTCAGATTTGGACTGAATTATACCATTGGCTTTCCTGGGTCTCCAGCTTGCAGGCAGCAGACAATGGGATTTCTCAACCTCCATAATCACTTGAGCTAGTTCCTATTTATATAGG... | benign | 79,609 |
Variant in EVC2 (EvC ciliary complex subunit 2), chromosome 4, position 5628743—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GTGGACTCAGTAAAGCAGACGGCCCTCCCCAGCATGAGCGGGCATCATCCAATATGCTGAGGTCCTGAATAGAACACAGAGGCAGAGGAAAGAGGAATTTGTCCCTTTTTTTTCTGCCTTACAGCTAACAGTGGGACCTCTCATCTCATCTTTTCCTGCCCTTGGACTGGGACTTACACCATCAGCTCCCTCTGGTTCTCAGGCCTTCAGATTTGGACTGAATTATACCATTGGCTTTCCTGGGTCTCCAGCTTGCAGGCAGCAGACAATGGGATTTCTCAACCTCCATAATCACTTGAGCTAGTTCCTATTTATATAGG... | GTGGACTCAGTAAAGCAGACGGCCCTCCCCAGCATGAGCGGGCATCATCCAATATGCTGAGGTCCTGAATAGAACACAGAGGCAGAGGAAAGAGGAATTTGTCCCTTTTTTTTCTGCCTTACAGCTAACAGTGGGACCTCTCATCTCATCTTTTCCTGCCCTTGGACTGGGACTTACACCATCAGCTCCCTCTGGTTCTCAGGCCTTCAGATTTGGACTGAATTATACCATTGGCTTTCCTGGGTCTCCAGCTTGCAGGCAGCAGACAATGGGATTTCTCAACCTCCATAATCACTTGAGCTAGTTCCTATTTATATAGG... | benign | 79,610 |
Does the variant impacting EVC2 on chromosome 4, position 5640596, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GGGCATTACAGGGCAGTGTCGGTGAGGGAGGCTGCAGTGGACTGAATGGTGACACTCCCACCCCCCAAAAAAGATATGCCTAGATCCTAACCTCAGGACCTTATTTAGAATAAGGGTCTTTCCACATGAAATTAATTTAAGATCTTATGAGATCATCCTGGATTATTTAGGTGGGACCTAAATTCAATGACAAATGTCCTTATAAGAGACAGGAGATGAGAGGGTTACCAGGGAAAAGGCCACAGGAAGACAGAGCAAAGATTTAAGTGACGCAGTTACAACCCCAGGAACACCCGGAGCCACCAGAAGCTGAACCAAAC... | GGGCATTACAGGGCAGTGTCGGTGAGGGAGGCTGCAGTGGACTGAATGGTGACACTCCCACCCCCCAAAAAAGATATGCCTAGATCCTAACCTCAGGACCTTATTTAGAATAAGGGTCTTTCCACATGAAATTAATTTAAGATCTTATGAGATCATCCTGGATTATTTAGGTGGGACCTAAATTCAATGACAAATGTCCTTATAAGAGACAGGAGATGAGAGGGTTACCAGGGAAAAGGCCACAGGAAGACAGAGCAAAGATTTAAGTGACGCAGTTACAACCCCAGGAACACCCGGAGCCACCAGAAGCTGAACCAAAC... | pathogenic | 79,625 |
A genetic variant on chromosome 4, position 5665625, affects the gene EVC2 (EvC ciliary complex subunit 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AACAGGTATGATGGACCTTGACATCAGAGATCTGGCTAGTTTCTAATCGGAATATAGGATTGAGTGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACTTGAGGTTAGGAGTTTGACACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAACCACTTGAACCCAGGAGACGGAAGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCATCCTG... | AACAGGTATGATGGACCTTGACATCAGAGATCTGGCTAGTTTCTAATCGGAATATAGGATTGAGTGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACTTGAGGTTAGGAGTTTGACACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAACCACTTGAACCCAGGAGACGGAAGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCATCCTG... | pathogenic | 79,644 |
A genetic variant at chromosome 4, position 5665626, affecting gene EVC2 (EvC ciliary complex subunit 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ACAGGTATGATGGACCTTGACATCAGAGATCTGGCTAGTTTCTAATCGGAATATAGGATTGAGTGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACTTGAGGTTAGGAGTTTGACACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAACCACTTGAACCCAGGAGACGGAAGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCATCCTGG... | ACAGGTATGATGGACCTTGACATCAGAGATCTGGCTAGTTTCTAATCGGAATATAGGATTGAGTGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACTTGAGGTTAGGAGTTTGACACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAACCACTTGAACCCAGGAGACGGAAGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCATCCTGG... | pathogenic | 79,645 |
Is the genetic change at chromosome 4, position 5665627, within gene EVC2 (EvC ciliary complex subunit 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CAGGTATGATGGACCTTGACATCAGAGATCTGGCTAGTTTCTAATCGGAATATAGGATTGAGTGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACTTGAGGTTAGGAGTTTGACACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAACCACTTGAACCCAGGAGACGGAAGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCATCCTGGG... | CAGGTATGATGGACCTTGACATCAGAGATCTGGCTAGTTTCTAATCGGAATATAGGATTGAGTGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACTTGAGGTTAGGAGTTTGACACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAACCACTTGAACCCAGGAGACGGAAGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCATCCTGGG... | pathogenic | 79,646 |
The chromosome 4, position 5681279 genetic variant in gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CACTACATTTATTTATTTATGTTGAGACAGAGTCTCACTCTGTTAACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCGCATGTCTCAGTCTCCCGAGTAGCTGGAATCACAGACACGCACCACCATGCTCAGCTAATTTTTTTTGTATTTTTAGTAAAGACCGGTTTAGCCATGTTGGCCAGGCTGATCTTGAACTCCTGGCTTCAAGTGATCAGCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGGCATGAGCCACTATGCCTGGCCACTAAATTTATTT... | CACTACATTTATTTATTTATGTTGAGACAGAGTCTCACTCTGTTAACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCGCATGTCTCAGTCTCCCGAGTAGCTGGAATCACAGACACGCACCACCATGCTCAGCTAATTTTTTTTGTATTTTTAGTAAAGACCGGTTTAGCCATGTTGGCCAGGCTGATCTTGAACTCCTGGCTTCAAGTGATCAGCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGGCATGAGCCACTATGCCTGGCCACTAAATTTATTT... | pathogenic | 79,649 |
Regarding the variant at chromosome 4 and position 5681305, affecting gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ACAGAGTCTCACTCTGTTAACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCGCATGTCTCAGTCTCCCGAGTAGCTGGAATCACAGACACGCACCACCATGCTCAGCTAATTTTTTTTGTATTTTTAGTAAAGACCGGTTTAGCCATGTTGGCCAGGCTGATCTTGAACTCCTGGCTTCAAGTGATCAGCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGGCATGAGCCACTATGCCTGGCCACTAAATTTATTTTAAAAATATATGCTGTGCAGGTTTCT... | ACAGAGTCTCACTCTGTTAACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCGCATGTCTCAGTCTCCCGAGTAGCTGGAATCACAGACACGCACCACCATGCTCAGCTAATTTTTTTTGTATTTTTAGTAAAGACCGGTTTAGCCATGTTGGCCAGGCTGATCTTGAACTCCTGGCTTCAAGTGATCAGCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGGCATGAGCCACTATGCCTGGCCACTAAATTTATTTTAAAAATATATGCTGTGCAGGTTTCT... | pathogenic | 79,650 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 5685497, gene EVC2 (EvC ciliary complex subunit 2). What disease(s) is it linked to if pathogenic? | benign | AGCCAGAAAACATGGACCAAGTGGGATTCAACACAATGTTACTGAGCACCTATTACGTGCAGGGTTCTCTTTTTGGCCCTGGAGACACAGTTGTGAATAGGACACACTAGGTCCCTGGTTTCACGGAGCTGACATTCTAGTGAGGGAGTGGGGGAGGGGTTCCTAAGGGGTAGAGTCAATATCACAGACAGGAACCAAACAAAGTAACAGGCGGGACTATTTCAGGGTGGGGCAGGGGAAGCCACGAGGAAGGTCCTCCCAGAGCATGCAGGGAGCCAGGCTCTGTGGAACCACAAACCTCCCCCTGCTCAAGCCAGCCC... | AGCCAGAAAACATGGACCAAGTGGGATTCAACACAATGTTACTGAGCACCTATTACGTGCAGGGTTCTCTTTTTGGCCCTGGAGACACAGTTGTGAATAGGACACACTAGGTCCCTGGTTTCACGGAGCTGACATTCTAGTGAGGGAGTGGGGGAGGGGTTCCTAAGGGGTAGAGTCAATATCACAGACAGGAACCAAACAAAGTAACAGGCGGGACTATTTCAGGGTGGGGCAGGGGAAGCCACGAGGAAGGTCCTCCCAGAGCATGCAGGGAGCCAGGCTCTGTGGAACCACAAACCTCCCCCTGCTCAAGCCAGCCC... | benign | 79,663 |
Does the variant on chromosome 4 at location 5689328 affecting gene EVC2 (EvC ciliary complex subunit 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome', 'Inborn_genetic_diseases'] | AAGAAAAAACCACCAACAAAATACCTCCTATTACCAGGAGCCCGGGAGCACTTTCCACAGCCGGGCTGCGTCATACTGCTTTAACTCCCTTACCCTCACAGCGCCTTCCTAGGTGGGTGTTACTAGCATGCCCAGAGGAGAGATGGAGAGCCAAGGTTCAGAGACATGCAGTGTGCACGTGCTAGAGCAGAAGTCCATGAATTCACGTGTGGAAAGTGCCTAGAATGGCCCTAGGCTCCAAGCAGGGAAGCAGGAAGGGGCAGGTAGTCTCTGTGGAAGTTTGGAGGCAGAGGGGTGACTTTGGGGCAAGGGACTGGGTA... | AAGAAAAAACCACCAACAAAATACCTCCTATTACCAGGAGCCCGGGAGCACTTTCCACAGCCGGGCTGCGTCATACTGCTTTAACTCCCTTACCCTCACAGCGCCTTCCTAGGTGGGTGTTACTAGCATGCCCAGAGGAGAGATGGAGAGCCAAGGTTCAGAGACATGCAGTGTGCACGTGCTAGAGCAGAAGTCCATGAATTCACGTGTGGAAAGTGCCTAGAATGGCCCTAGGCTCCAAGCAGGGAAGCAGGAAGGGGCAGGTAGTCTCTGTGGAAGTTTGGAGGCAGAGGGGTGACTTTGGGGCAAGGGACTGGGTA... | pathogenic | 79,674 |
Regarding the variant at chromosome 4 and position 5691331, affecting gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TCTTGGTGTTGTTAACAAGCAGCCATATGCGGGCTGTCTGTGCTTCACTCGACCCAGACACCTAGGGCAGAAGGAGAAGGCATGAGGGCAGATTTGCTGACAAGTCCAGCTTCCTAAAATGGGGCATGAGCCCAGCCTGTGCACATTAGGCATCCAGGAAGAAGGAGGGTAGCACGGTCTCGCAGAGGGCCTGGGAATTTATCAGTCTCAGTATGATTTCAAAGACCCCCAAGAGGTTTTGACCCACACTTCCCAAGCTGTTGCTTGGAGACAGTTTCAAAGAAACTGAGATGCTGAAATGCAGTGAAATAATCCTTGCA... | TCTTGGTGTTGTTAACAAGCAGCCATATGCGGGCTGTCTGTGCTTCACTCGACCCAGACACCTAGGGCAGAAGGAGAAGGCATGAGGGCAGATTTGCTGACAAGTCCAGCTTCCTAAAATGGGGCATGAGCCCAGCCTGTGCACATTAGGCATCCAGGAAGAAGGAGGGTAGCACGGTCTCGCAGAGGGCCTGGGAATTTATCAGTCTCAGTATGATTTCAAAGACCCCCAAGAGGTTTTGACCCACACTTCCCAAGCTGTTGCTTGGAGACAGTTTCAAAGAAACTGAGATGCTGAAATGCAGTGAAATAATCCTTGCA... | pathogenic | 79,678 |
Regarding the variant at chromosome 4 and position 5691339, affecting gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTGTTAACAAGCAGCCATATGCGGGCTGTCTGTGCTTCACTCGACCCAGACACCTAGGGCAGAAGGAGAAGGCATGAGGGCAGATTTGCTGACAAGTCCAGCTTCCTAAAATGGGGCATGAGCCCAGCCTGTGCACATTAGGCATCCAGGAAGAAGGAGGGTAGCACGGTCTCGCAGAGGGCCTGGGAATTTATCAGTCTCAGTATGATTTCAAAGACCCCCAAGAGGTTTTGACCCACACTTCCCAAGCTGTTGCTTGGAGACAGTTTCAAAGAAACTGAGATGCTGAAATGCAGTGAAATAATCCTTGCAGAGAATCT... | TTGTTAACAAGCAGCCATATGCGGGCTGTCTGTGCTTCACTCGACCCAGACACCTAGGGCAGAAGGAGAAGGCATGAGGGCAGATTTGCTGACAAGTCCAGCTTCCTAAAATGGGGCATGAGCCCAGCCTGTGCACATTAGGCATCCAGGAAGAAGGAGGGTAGCACGGTCTCGCAGAGGGCCTGGGAATTTATCAGTCTCAGTATGATTTCAAAGACCCCCAAGAGGTTTTGACCCACACTTCCCAAGCTGTTGCTTGGAGACAGTTTCAAAGAAACTGAGATGCTGAAATGCAGTGAAATAATCCTTGCAGAGAATCT... | benign | 79,680 |
Variant at chromosome 4, position 5691347, gene EVC2 (EvC ciliary complex subunit 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AAGCAGCCATATGCGGGCTGTCTGTGCTTCACTCGACCCAGACACCTAGGGCAGAAGGAGAAGGCATGAGGGCAGATTTGCTGACAAGTCCAGCTTCCTAAAATGGGGCATGAGCCCAGCCTGTGCACATTAGGCATCCAGGAAGAAGGAGGGTAGCACGGTCTCGCAGAGGGCCTGGGAATTTATCAGTCTCAGTATGATTTCAAAGACCCCCAAGAGGTTTTGACCCACACTTCCCAAGCTGTTGCTTGGAGACAGTTTCAAAGAAACTGAGATGCTGAAATGCAGTGAAATAATCCTTGCAGAGAATCTTAGAAGAA... | AAGCAGCCATATGCGGGCTGTCTGTGCTTCACTCGACCCAGACACCTAGGGCAGAAGGAGAAGGCATGAGGGCAGATTTGCTGACAAGTCCAGCTTCCTAAAATGGGGCATGAGCCCAGCCTGTGCACATTAGGCATCCAGGAAGAAGGAGGGTAGCACGGTCTCGCAGAGGGCCTGGGAATTTATCAGTCTCAGTATGATTTCAAAGACCCCCAAGAGGTTTTGACCCACACTTCCCAAGCTGTTGCTTGGAGACAGTTTCAAAGAAACTGAGATGCTGAAATGCAGTGAAATAATCCTTGCAGAGAATCTTAGAAGAA... | benign | 79,681 |
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