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 |
|---|---|---|---|---|---|
Does the genetic variant at chromosome 15, position 27926154, impacting gene OCA2 (OCA2 melanosomal transmembrane protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['OCA2-related_disorder', 'Oculocutaneous_albinism', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | GAGTAGAGACTGCCTGCCCCACTGCTTGTTTTGGTCAGCTTTGTCGAAGATCAGATGGTCATAGGTGTACAGCCTTATTTCTGGGCTCTCTGTTCTGTTCCATTGGTCTATGTGACATACCTAACTTTGACTTAATTTTTTTCAATATTTCTAAGCTATGCAGTTCATCTGTGTTTTTTCAAATTATCACAAATCTCCAAAAAAAATTCCCATACATTTATTGAAAAAGATCTCCATATAAGTAGACCCATGCAGTTCAAATCCATGTTGTTCAAGGGTCAATTGTATGTCTTTTTTTTATCATTTTTCTTTTTTCTCTT... | GAGTAGAGACTGCCTGCCCCACTGCTTGTTTTGGTCAGCTTTGTCGAAGATCAGATGGTCATAGGTGTACAGCCTTATTTCTGGGCTCTCTGTTCTGTTCCATTGGTCTATGTGACATACCTAACTTTGACTTAATTTTTTTCAATATTTCTAAGCTATGCAGTTCATCTGTGTTTTTTCAAATTATCACAAATCTCCAAAAAAAATTCCCATACATTTATTGAAAAAGATCTCCATATAAGTAGACCCATGCAGTTCAAATCCATGTTGTTCAAGGGTCAATTGTATGTCTTTTTTTTATCATTTTTCTTTTTTCTCTT... | pathogenic | 228,716 |
Is the chromosome 15, position 27951820 variant in OCA2 (OCA2 melanosomal transmembrane protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Oculocutaneous_albinism', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES'] | GTATCCATTTTGCCCTTGTTCTATCAGAAAAGTTCTTATAACTCTAAGGAAACTGTATTCCATTAAAATATATGCCAATCAAACTTTTCTCCTAGTCAACCTAACCTATCTTGATAAATATGCAGTATCTGGATCCCCAGATAAAATCACCTGAACACAAGCCCTAACTAAAAACAAAACAGGATTTAAAAGCAGAAAATAAACATGTCCATCATTCACAGATGTAACAACCACACAAAAGGAGATGAGACATTTTGTAAAAAAAACGTAGACTTGCAGGCTAAAAGTTTCATAGTAACCAAGATTTTTTAAGTCCATAT... | GTATCCATTTTGCCCTTGTTCTATCAGAAAAGTTCTTATAACTCTAAGGAAACTGTATTCCATTAAAATATATGCCAATCAAACTTTTCTCCTAGTCAACCTAACCTATCTTGATAAATATGCAGTATCTGGATCCCCAGATAAAATCACCTGAACACAAGCCCTAACTAAAAACAAAACAGGATTTAAAAGCAGAAAATAAACATGTCCATCATTCACAGATGTAACAACCACACAAAAGGAGATGAGACATTTTGTAAAAAAAACGTAGACTTGCAGGCTAAAAGTTTCATAGTAACCAAGATTTTTTAAGTCCATAT... | pathogenic | 228,722 |
Chromosome 15, position 27955158, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | CAGGTGGATCTCGATATCTACCATCATAGTGATCTATAGCTATCTGGATTTGGACAGATATAGACATATAGATATATAGATATAGACACACAGAGGTAGAGCTAGAGCTACAAAGAGATTCTCTCTCTTGCTTCCTCTGGTCACAAAGGTAAAGCTGCTGCCATCAAAAACACATGCAAGGCCCTCTGTGTCACAACAGCTGACACAGCCCCTCCTCTATGTGCAGTGGGGCCACTGGTGAGCATCTGCCCCTCCCTGCCCACCGTGAAGGCTCATGGCTGGGCCAGCCCCTTCTCATCTTCCCTGTCGCCTCTCTGGGG... | CAGGTGGATCTCGATATCTACCATCATAGTGATCTATAGCTATCTGGATTTGGACAGATATAGACATATAGATATATAGATATAGACACACAGAGGTAGAGCTAGAGCTACAAAGAGATTCTCTCTCTTGCTTCCTCTGGTCACAAAGGTAAAGCTGCTGCCATCAAAAACACATGCAAGGCCCTCTGTGTCACAACAGCTGACACAGCCCCTCCTCTATGTGCAGTGGGGCCACTGGTGAGCATCTGCCCCTCCCTGCCCACCGTGAAGGCTCATGGCTGGGCCAGCCCCTTCTCATCTTCCCTGTCGCCTCTCTGGGG... | pathogenic | 228,728 |
Does the variant impacting OCA2 (OCA2 melanosomal transmembrane protein) on chromosome 15, position 27955158, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES'] | CAGGTGGATCTCGATATCTACCATCATAGTGATCTATAGCTATCTGGATTTGGACAGATATAGACATATAGATATATAGATATAGACACACAGAGGTAGAGCTAGAGCTACAAAGAGATTCTCTCTCTTGCTTCCTCTGGTCACAAAGGTAAAGCTGCTGCCATCAAAAACACATGCAAGGCCCTCTGTGTCACAACAGCTGACACAGCCCCTCCTCTATGTGCAGTGGGGCCACTGGTGAGCATCTGCCCCTCCCTGCCCACCGTGAAGGCTCATGGCTGGGCCAGCCCCTTCTCATCTTCCCTGTCGCCTCTCTGGGG... | CAGGTGGATCTCGATATCTACCATCATAGTGATCTATAGCTATCTGGATTTGGACAGATATAGACATATAGATATATAGATATAGACACACAGAGGTAGAGCTAGAGCTACAAAGAGATTCTCTCTCTTGCTTCCTCTGGTCACAAAGGTAAAGCTGCTGCCATCAAAAACACATGCAAGGCCCTCTGTGTCACAACAGCTGACACAGCCCCTCCTCTATGTGCAGTGGGGCCACTGGTGAGCATCTGCCCCTCCCTGCCCACCGTGAAGGCTCATGGCTGGGCCAGCCCCTTCTCATCTTCCCTGTCGCCTCTCTGGGG... | pathogenic | 228,729 |
Chromosome 15, position 27955191, gene OCA2 (OCA2 melanosomal transmembrane protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | CTATAGCTATCTGGATTTGGACAGATATAGACATATAGATATATAGATATAGACACACAGAGGTAGAGCTAGAGCTACAAAGAGATTCTCTCTCTTGCTTCCTCTGGTCACAAAGGTAAAGCTGCTGCCATCAAAAACACATGCAAGGCCCTCTGTGTCACAACAGCTGACACAGCCCCTCCTCTATGTGCAGTGGGGCCACTGGTGAGCATCTGCCCCTCCCTGCCCACCGTGAAGGCTCATGGCTGGGCCAGCCCCTTCTCATCTTCCCTGTCGCCTCTCTGGGGAAGGCCGATTTTCCTACATGATTCTGTGCTGAA... | CTATAGCTATCTGGATTTGGACAGATATAGACATATAGATATATAGATATAGACACACAGAGGTAGAGCTAGAGCTACAAAGAGATTCTCTCTCTTGCTTCCTCTGGTCACAAAGGTAAAGCTGCTGCCATCAAAAACACATGCAAGGCCCTCTGTGTCACAACAGCTGACACAGCCCCTCCTCTATGTGCAGTGGGGCCACTGGTGAGCATCTGCCCCTCCCTGCCCACCGTGAAGGCTCATGGCTGGGCCAGCCCCTTCTCATCTTCCCTGTCGCCTCTCTGGGGAAGGCCGATTTTCCTACATGATTCTGTGCTGAA... | pathogenic | 228,731 |
Gene OCA2 (OCA2 melanosomal transmembrane protein) variant at chromosome position 27966770 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['OCA2-related_disorder'] | TGCTAAACTCAGATCTCTTGAGTGGGGCTTGGGAATCTGCAGTTTTACCCACCACTCCAAATTTGGAGCCCTCTAAGCCCCACAGTGGCACAGAGCAATCACCCCACCTTGCACTGCTGGTCTTAGCCCGGCCATAGGGTTCCTGCATCACCAGGTGTGTCCACTTCCAACCATCACTCCCCACTTCCCTCGAAGCTTTTCTCTGTTCCTTACTCAGGAACGGTGAGGAATTCATTACAGAGATTATTTTCTGTGTGTCTAAATCTGTGTATCCCAAATTCATCTCAAGATTAGACTCTTCAGGACAGCTTACTAACAAC... | TGCTAAACTCAGATCTCTTGAGTGGGGCTTGGGAATCTGCAGTTTTACCCACCACTCCAAATTTGGAGCCCTCTAAGCCCCACAGTGGCACAGAGCAATCACCCCACCTTGCACTGCTGGTCTTAGCCCGGCCATAGGGTTCCTGCATCACCAGGTGTGTCCACTTCCAACCATCACTCCCCACTTCCCTCGAAGCTTTTCTCTGTTCCTTACTCAGGAACGGTGAGGAATTCATTACAGAGATTATTTTCTGTGTGTCTAAATCTGTGTATCCCAAATTCATCTCAAGATTAGACTCTTCAGGACAGCTTACTAACAAC... | pathogenic | 228,744 |
Chromosome 15, position 27985179, gene OCA2 (OCA2 melanosomal transmembrane protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | GATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGATCACTTCTGCAATCAGGACT... | GATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGATCACTTCTGCAATCAGGACT... | pathogenic | 228,763 |
Mutation found at chromosome 15 position 27990588, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | CCAGGAGGGAGGCTCAGGAGAAAGCATGCCTGCCCACACCGTGATCTCGGACTTGCAGCCTCCAGAGCTGTGAGAAAATACATTTATATTATTTAAGCCACACGGTCTGTGGTACTTTGTTACATAGTCCTAGCAAACTAATATAGCATTCCTTTTTTAAAAAAGGCGTATCTCAGGGATATCTGGTACACTTCCTCTCTTCTATCCAGATGCCCAAACTCTGTATACGTCTCAGGCCCGACACAAGTATTAGTTACTCTGTGAAGCCAGGGTTAGAGCACTGGCCTGCCTCCCTGCGCACCACCCACAGAGGATGGCGG... | CCAGGAGGGAGGCTCAGGAGAAAGCATGCCTGCCCACACCGTGATCTCGGACTTGCAGCCTCCAGAGCTGTGAGAAAATACATTTATATTATTTAAGCCACACGGTCTGTGGTACTTTGTTACATAGTCCTAGCAAACTAATATAGCATTCCTTTTTTAAAAAAGGCGTATCTCAGGGATATCTGGTACACTTCCTCTCTTCTATCCAGATGCCCAAACTCTGTATACGTCTCAGGCCCGACACAAGTATTAGTTACTCTGTGAAGCCAGGGTTAGAGCACTGGCCTGCCTCCCTGCGCACCACCCACAGAGGATGGCGG... | pathogenic | 228,770 |
Does the variant on chromosome 15 at location 27990629 affecting gene OCA2 (OCA2 melanosomal transmembrane protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | TGATCTCGGACTTGCAGCCTCCAGAGCTGTGAGAAAATACATTTATATTATTTAAGCCACACGGTCTGTGGTACTTTGTTACATAGTCCTAGCAAACTAATATAGCATTCCTTTTTTAAAAAAGGCGTATCTCAGGGATATCTGGTACACTTCCTCTCTTCTATCCAGATGCCCAAACTCTGTATACGTCTCAGGCCCGACACAAGTATTAGTTACTCTGTGAAGCCAGGGTTAGAGCACTGGCCTGCCTCCCTGCGCACCACCCACAGAGGATGGCGGCACGGTTTCCATCAGGTCACATAGCTGGGCCCTCCGTTATG... | TGATCTCGGACTTGCAGCCTCCAGAGCTGTGAGAAAATACATTTATATTATTTAAGCCACACGGTCTGTGGTACTTTGTTACATAGTCCTAGCAAACTAATATAGCATTCCTTTTTTAAAAAAGGCGTATCTCAGGGATATCTGGTACACTTCCTCTCTTCTATCCAGATGCCCAAACTCTGTATACGTCTCAGGCCCGACACAAGTATTAGTTACTCTGTGAAGCCAGGGTTAGAGCACTGGCCTGCCTCCCTGCGCACCACCCACAGAGGATGGCGGCACGGTTTCCATCAGGTCACATAGCTGGGCCCTCCGTTATG... | pathogenic | 228,775 |
Variant at chromosome 15, position 28014869, gene OCA2 (OCA2 melanosomal transmembrane protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | TAACTAATTAAAGCACATTGAATTTATTAAATCTATAATTGCAAAATAATAGTAAAAAAGGGGAAGAGGGAAACTAAATAAATTCAGTGGACACCACTGGAAGTTACTAAGGGAAGAGCTCATTACTAAGAAAGTTGATCATTACAGAAATAGGATTTATCTTAGGCGGGCAGTGGGCCCTGGTGGGTATTAAAATCATTAAGAGAAAAAGTGGCAGGGAGCTGGGCACCTTTCTCCACCACCTCAACTCCCTGAGCATTCTCCGCACCCCTGACAGCAGGACATCCAGACATAGGGTCCTCCTCCTGGACACAGGCCAG... | TAACTAATTAAAGCACATTGAATTTATTAAATCTATAATTGCAAAATAATAGTAAAAAAGGGGAAGAGGGAAACTAAATAAATTCAGTGGACACCACTGGAAGTTACTAAGGGAAGAGCTCATTACTAAGAAAGTTGATCATTACAGAAATAGGATTTATCTTAGGCGGGCAGTGGGCCCTGGTGGGTATTAAAATCATTAAGAGAAAAAGTGGCAGGGAGCTGGGCACCTTTCTCCACCACCTCAACTCCCTGAGCATTCTCCGCACCCCTGACAGCAGGACATCCAGACATAGGGTCCTCCTCCTGGACACAGGCCAG... | pathogenic | 228,784 |
Regarding the variant found on chromosome 15 at position 28016126 in gene OCA2 (OCA2 melanosomal transmembrane protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | AAGCTCACTAGGACGCGCCTCTAACGGTCACATCATGCACTGACCTTCCAGGCTCCTGTCCGTGTTGTGGTTAAGTTTGATTTCATAGTTAAAGCAACAACGGACCTGCCCAGCCCAGGAAGGGTCTGCACATTGCTTCGTGCTATTGAAGGCATAGCCACACTTAGAACTTCCCAGAAACATAACATTGACTGGACTTAAGATCACATGTGGAAATGCCCATAAGCCAAGTTGGTAGACGGAACAGATAATCAAATAATCCCTCCGGGCACACAGCCCCAGGCCATCCGTGTCCCCTCACACACACAACCCCACGGTGC... | AAGCTCACTAGGACGCGCCTCTAACGGTCACATCATGCACTGACCTTCCAGGCTCCTGTCCGTGTTGTGGTTAAGTTTGATTTCATAGTTAAAGCAACAACGGACCTGCCCAGCCCAGGAAGGGTCTGCACATTGCTTCGTGCTATTGAAGGCATAGCCACACTTAGAACTTCCCAGAAACATAACATTGACTGGACTTAAGATCACATGTGGAAATGCCCATAAGCCAAGTTGGTAGACGGAACAGATAATCAAATAATCCCTCCGGGCACACAGCCCCAGGCCATCCGTGTCCCCTCACACACACAACCCCACGGTGC... | pathogenic | 228,790 |
Variant at chromosome 15, position 28016172, gene OCA2 (OCA2 melanosomal transmembrane protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['OCA2-related_disorder', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | TCCAGGCTCCTGTCCGTGTTGTGGTTAAGTTTGATTTCATAGTTAAAGCAACAACGGACCTGCCCAGCCCAGGAAGGGTCTGCACATTGCTTCGTGCTATTGAAGGCATAGCCACACTTAGAACTTCCCAGAAACATAACATTGACTGGACTTAAGATCACATGTGGAAATGCCCATAAGCCAAGTTGGTAGACGGAACAGATAATCAAATAATCCCTCCGGGCACACAGCCCCAGGCCATCCGTGTCCCCTCACACACACAACCCCACGGTGCAGGTGGGCGCAAATGAGCACACCCATCACACAGGTGCAGACTCTGA... | TCCAGGCTCCTGTCCGTGTTGTGGTTAAGTTTGATTTCATAGTTAAAGCAACAACGGACCTGCCCAGCCCAGGAAGGGTCTGCACATTGCTTCGTGCTATTGAAGGCATAGCCACACTTAGAACTTCCCAGAAACATAACATTGACTGGACTTAAGATCACATGTGGAAATGCCCATAAGCCAAGTTGGTAGACGGAACAGATAATCAAATAATCCCTCCGGGCACACAGCCCCAGGCCATCCGTGTCCCCTCACACACACAACCCCACGGTGCAGGTGGGCGCAAATGAGCACACCCATCACACAGGTGCAGACTCTGA... | pathogenic | 228,792 |
Is the genetic variant on chromosome 15, position 28018444, gene OCA2 (OCA2 melanosomal transmembrane protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Tyrosinase-positive_oculocutaneous_albinism'] | GTTTAAGAAAAAGGATTCAAAAGAAAAAATGCAGAATTAGTGTACAAAAGTACAAAAGGCATAGAAGTAAATAGTGATTTAATACGAGAAAAAGAAATCATGCCCAGACGCGCTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAAGAGTTCAAGATCAGCCTGGGCAACAGAGCAAGACCCCTGTCTGCACAAAAAAGTTTTAAAAATTAGCCAGGCCTGGTGGCATGTGCTTGTGGTCCCAGCCACTTAGGGGCTGAGGCGGGAGGATCCTGTGAGCCCAGAAGTTCCA... | GTTTAAGAAAAAGGATTCAAAAGAAAAAATGCAGAATTAGTGTACAAAAGTACAAAAGGCATAGAAGTAAATAGTGATTTAATACGAGAAAAAGAAATCATGCCCAGACGCGCTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAAGAGTTCAAGATCAGCCTGGGCAACAGAGCAAGACCCCTGTCTGCACAAAAAAGTTTTAAAAATTAGCCAGGCCTGGTGGCATGTGCTTGTGGTCCCAGCCACTTAGGGGCTGAGGCGGGAGGATCCTGTGAGCCCAGAAGTTCCA... | pathogenic | 228,796 |
Assess the variant on chromosome 15, position 28022510, impacting OCA2 (OCA2 melanosomal transmembrane protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases', 'OCA2-related_disorder', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | TGGGTCAGCCTGGCAGCCGGTTGCTCTATCTCCCCTTCCCCCTGCGGGAAAGTCCTGCCCAGGAGGGTGGCATGTCCTGGGAACTTCATGAGGGGGGCCAGGAACACAGGGCAAGTCTTGGCTTTCTTCATCCTGGAGAAGTAATGCAGAGGTCGAGGCACAAGAATGAGAAACAAAGTCTGTCAACATCACACAGCTCTTCGGTTCTCTCACATGGAGATACTTTACAGCTCAGGCACGGTTTTAAAGTGATGAAGAAAATACAAACACGTGCACACGCACTCAGCTGACATCAGCACCGCCCTGACCCCAGTGGAAGT... | TGGGTCAGCCTGGCAGCCGGTTGCTCTATCTCCCCTTCCCCCTGCGGGAAAGTCCTGCCCAGGAGGGTGGCATGTCCTGGGAACTTCATGAGGGGGGCCAGGAACACAGGGCAAGTCTTGGCTTTCTTCATCCTGGAGAAGTAATGCAGAGGTCGAGGCACAAGAATGAGAAACAAAGTCTGTCAACATCACACAGCTCTTCGGTTCTCTCACATGGAGATACTTTACAGCTCAGGCACGGTTTTAAAGTGATGAAGAAAATACAAACACGTGCACACGCACTCAGCTGACATCAGCACCGCCCTGACCCCAGTGGAAGT... | pathogenic | 228,800 |
The chromosome 15, position 28024851 genetic variant in gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Oculocutaneous_albinism'] | AATGCCTGGCCATAAAATTAAATCATCGAAGAAGGATAAATGTGGTTTTCTCACAATGGAGAATAAAGGCATATGACCCCTGTGATGGTTAGAGCATGTGTTTGTGGTAGCAGGTGTTTGTGAAATTTGCAAAGCACCTTATACACCATCAAAAAGTAAATTAAACTGATGATAACATGAGATTATAGAAGTTCAAATCATTCCTCAAATTCTATTTTGGATATCTCCACAAATCACCTAAACTCCATCTCACAGAAGAAGGCTGAAGACTGGACACAGAGCTCAGGTCAGCTCTTGGGGACCAGGGGAGACCTGGCCCA... | AATGCCTGGCCATAAAATTAAATCATCGAAGAAGGATAAATGTGGTTTTCTCACAATGGAGAATAAAGGCATATGACCCCTGTGATGGTTAGAGCATGTGTTTGTGGTAGCAGGTGTTTGTGAAATTTGCAAAGCACCTTATACACCATCAAAAAGTAAATTAAACTGATGATAACATGAGATTATAGAAGTTCAAATCATTCCTCAAATTCTATTTTGGATATCTCCACAAATCACCTAAACTCCATCTCACAGAAGAAGGCTGAAGACTGGACACAGAGCTCAGGTCAGCTCTTGGGGACCAGGGGAGACCTGGCCCA... | pathogenic | 228,804 |
Variant chromosome 15, position 28027945, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic? Disease(s)? | pathogenic; ['Oculocutaneous_albinism', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES'] | GATCCTTTGAAAATGGTAAAATCTTGTTTTGCATTCTCTTAGATTTAATGAATTTGATGAATAATCAGTTCACGCTTCCCAATTACGATTCAACAGCTCCTACTTAAATAGGAATCAAAATGACATTTCTTTTTAAAGCATGAAGCATTAATTGAGCTATTCTAAATACAAATTTCTTTCTACGTAACTGACATCTGCAGCAGAGCTGACAACCCAAAATAAAAGGTTTTTTACAAGATTCTTCACTGATCACGCATGGTACTTTTTAGACATGTTATAAAGAATGGAGCTAACGTCTTTTAGTTCAGTGGCAAGCTCAA... | GATCCTTTGAAAATGGTAAAATCTTGTTTTGCATTCTCTTAGATTTAATGAATTTGATGAATAATCAGTTCACGCTTCCCAATTACGATTCAACAGCTCCTACTTAAATAGGAATCAAAATGACATTTCTTTTTAAAGCATGAAGCATTAATTGAGCTATTCTAAATACAAATTTCTTTCTACGTAACTGACATCTGCAGCAGAGCTGACAACCCAAAATAAAAGGTTTTTTACAAGATTCTTCACTGATCACGCATGGTACTTTTTAGACATGTTATAAAGAATGGAGCTAACGTCTTTTAGTTCAGTGGCAAGCTCAA... | pathogenic | 228,808 |
Variant chromosome 15, position 28028010, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic? Disease(s)? | pathogenic; ['Tyrosinase-positive_oculocutaneous_albinism'] | CAGTTCACGCTTCCCAATTACGATTCAACAGCTCCTACTTAAATAGGAATCAAAATGACATTTCTTTTTAAAGCATGAAGCATTAATTGAGCTATTCTAAATACAAATTTCTTTCTACGTAACTGACATCTGCAGCAGAGCTGACAACCCAAAATAAAAGGTTTTTTACAAGATTCTTCACTGATCACGCATGGTACTTTTTAGACATGTTATAAAGAATGGAGCTAACGTCTTTTAGTTCAGTGGCAAGCTCAAAGGCAAATATTCCATGAATCATAGAAGATAAAACAAGTACTGAATGCAAAAGTCTCAAATGTACT... | CAGTTCACGCTTCCCAATTACGATTCAACAGCTCCTACTTAAATAGGAATCAAAATGACATTTCTTTTTAAAGCATGAAGCATTAATTGAGCTATTCTAAATACAAATTTCTTTCTACGTAACTGACATCTGCAGCAGAGCTGACAACCCAAAATAAAAGGTTTTTTACAAGATTCTTCACTGATCACGCATGGTACTTTTTAGACATGTTATAAAGAATGGAGCTAACGTCTTTTAGTTCAGTGGCAAGCTCAAAGGCAAATATTCCATGAATCATAGAAGATAAAACAAGTACTGAATGCAAAAGTCTCAAATGTACT... | pathogenic | 228,811 |
Considering the genetic mutation at chromosome 15, position 28081698, impacting OCA2 (OCA2 melanosomal transmembrane protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | GCATGGGAGGTGTGGCTCACTCATGAGGGCTCATGCCTGTGGACAAGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACC... | GCATGGGAGGTGTGGCTCACTCATGAGGGCTCATGCCTGTGGACAAGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACC... | pathogenic | 228,818 |
Variant at chromosome position 28081711, chromosome 15, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | GGCTCACTCATGAGGGCTCATGCCTGTGGACAAGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCA... | GGCTCACTCATGAGGGCTCATGCCTGTGGACAAGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCA... | pathogenic | 228,820 |
Variant on chromosome 15, at position 28081711, affecting OCA2 (OCA2 melanosomal transmembrane protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GGCTCACTCATGAGGGCTCATGCCTGTGGACAAGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCA... | GGCTCACTCATGAGGGCTCATGCCTGTGGACAAGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCA... | pathogenic | 228,821 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 28081717, gene OCA2 (OCA2 melanosomal transmembrane protein): what disease(s) if pathogenic? | pathogenic; ['OCA2-related_disorder', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | CTCATGAGGGCTCATGCCTGTGGACAAGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCAAGAAGT... | CTCATGAGGGCTCATGCCTGTGGACAAGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCAAGAAGT... | pathogenic | 228,822 |
Gene OCA2 (OCA2 melanosomal transmembrane protein) variant at chromosome 15, position 28081743—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | AGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCAAGAAGTGAGGTCAAAGAACTTGGAACATATGC... | AGGGTGGCACCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCAAGAAGTGAGGTCAAAGAACTTGGAACATATGC... | pathogenic | 228,824 |
Is the chromosome 15, position 28081752 variant in OCA2 (OCA2 melanosomal transmembrane protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic | CCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCAAGAAGTGAGGTCAAAGAACTTGGAACATATGCAACATATGC... | CCTTCTGGCATCTCCACACTCAGCCTAGGTAGTTGCCAGTGCCATCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCAAGAAGTGAGGTCAAAGAACTTGGAACATATGCAACATATGC... | pathogenic | 228,826 |
Is chromosome 15, position 28081796, gene OCA2 (OCA2 melanosomal transmembrane protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | TCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCAAGAAGTGAGGTCAAAGAACTTGGAACATATGCAACATATGCTCTTCTGGTTTTCCCAATTCTTGTCTCACTGGAAGCTGAACATT... | TCCCGACACCCCCTCCCCGTGCCCTGCGCAGGCTGTGGGGTCAGGGCACCCTCACCCTCCCTTCACTGGACCACCACACCTGCCAGCTCCTGCCCCCATGTGCCTGCACCTGTCAGCACCTCCCCACGCTCTCCTTCCTCCTCCACCTGGAATCCTGCCTGGCTGCCCAGGGCCTCCTGCCTGTGGAGCTCATGACAGGCCCCAGTCTGCCCCTGGTACACCATACATCGAAGCAAGAAGTGAGGTCAAAGAACTTGGAACATATGCAACATATGCTCTTCTGGTTTTCCCAATTCTTGTCTCACTGGAAGCTGAACATT... | pathogenic | 228,827 |
Mutation at chromosome 15, position 30922219, within FAN1: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GTTTCATACAATTTTCGCATACCAAAGTGTATTATTCTCTTTATTTATTAACAATTTAAAAACATAAAAACCATTCTTAGTTTGCAGGACATAGAAAATCAGGTGGCAGACCCTGGGTTTGGCTGTGGGCCGGAGTTTGCTGACCTTGGTTTAGAATGATGAGTTCTCATCTTACTCCACTGTCTGAGTGACCTAGGACGTGGTAGCTGGCTGTGAGAATGTAGGTTTGTGGTGTAGAAAATTGTACACAACTGAAAGTATTTAGAATATACCTTTTTAAAAGATAGGAATTCAGTCTGCTTTGTCACTTGTTATTATTG... | GTTTCATACAATTTTCGCATACCAAAGTGTATTATTCTCTTTATTTATTAACAATTTAAAAACATAAAAACCATTCTTAGTTTGCAGGACATAGAAAATCAGGTGGCAGACCCTGGGTTTGGCTGTGGGCCGGAGTTTGCTGACCTTGGTTTAGAATGATGAGTTCTCATCTTACTCCACTGTCTGAGTGACCTAGGACGTGGTAGCTGGCTGTGAGAATGTAGGTTTGTGGTGTAGAAAATTGTACACAACTGAAAGTATTTAGAATATACCTTTTTAAAAGATAGGAATTCAGTCTGCTTTGTCACTTGTTATTATTG... | benign | 228,948 |
Does the genetic variant at chromosome 15, position 31026196, impacting gene TRPM1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Congenital_stationary_night_blindness_1C'] | TGCTGGCGAAGACACGACCGAGAGAAGAGCAGGAAAATCATCAAATGGGAAATGGTGATGCAGAAAATAAAACTAATTTTATATAGAAAGAATATTAAAGAAATGGCAGAAATGCTTGAGTACTTCAAGTGTGATTTTTAAAGTAGTCACAGGTGCCCAAATAGCTACTTTTATTTCCATCCTCCCACCTTATCCCTTGCTTCTCAGCTGGCTTGGCTAAGAGGGAAGGAAAACTCCCTTCTCCTCAAGCCTTCTCCTCTTTCTGTCTTGGGCATTCACCTGTGAGTCAGCCTGACAAGGCCAAGGGAAATGGAGGGGCA... | TGCTGGCGAAGACACGACCGAGAGAAGAGCAGGAAAATCATCAAATGGGAAATGGTGATGCAGAAAATAAAACTAATTTTATATAGAAAGAATATTAAAGAAATGGCAGAAATGCTTGAGTACTTCAAGTGTGATTTTTAAAGTAGTCACAGGTGCCCAAATAGCTACTTTTATTTCCATCCTCCCACCTTATCCCTTGCTTCTCAGCTGGCTTGGCTAAGAGGGAAGGAAAACTCCCTTCTCCTCAAGCCTTCTCCTCTTTCTGTCTTGGGCATTCACCTGTGAGTCAGCCTGACAAGGCCAAGGGAAATGGAGGGGCA... | pathogenic | 228,997 |
Determine whether the variant at chromosome 15, position 31031004, in gene TRPM1 (transient receptor potential cation channel subfamily M member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Congenital_stationary_night_blindness_1C'] | TTCTAATTATTTAACATCAGCTTATGTTGTCTTCTGGTTGTTTTCTTGGTTTCACTGATACATTAAATTTGAAAATATTTTTGTTATGTTGTATGGGTTAGGGATTTCCTCTACTTCCCAAATTGTTTAATCAACTGTTTTGGTGCCATGTTTGAAAAATAATCTTTTCTCCCTCTGCTCATTTGAAATGCAACTTTTTATCATAGGGGGTCTATTTCTCCCCTAAAAAAATAGGGTGATCCCAACAGTGAATTTGTGGTTCTCTTTACTTTTTACTGACAGCTTAAAAAGTACTGGCACCAAAAAACAAGAGAAGTATT... | TTCTAATTATTTAACATCAGCTTATGTTGTCTTCTGGTTGTTTTCTTGGTTTCACTGATACATTAAATTTGAAAATATTTTTGTTATGTTGTATGGGTTAGGGATTTCCTCTACTTCCCAAATTGTTTAATCAACTGTTTTGGTGCCATGTTTGAAAAATAATCTTTTCTCCCTCTGCTCATTTGAAATGCAACTTTTTATCATAGGGGGTCTATTTCTCCCCTAAAAAAATAGGGTGATCCCAACAGTGAATTTGTGGTTCTCTTTACTTTTTACTGACAGCTTAAAAAGTACTGGCACCAAAAAACAAGAGAAGTATT... | pathogenic | 229,005 |
Benign or pathogenic: chromosome 15, position 31038139, gene TRPM1 (transient receptor potential cation channel subfamily M member 1) variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_stationary_night_blindness_1C'] | GTTAGATGAGAGGACATGTGGATGAGTTGCCCACCCAGATATGCGAGCTGACCCTAGAGTCCCCTCAGTTACTGGTGGCATGTCCAGGATTTGCTGTGGCCACAGCAGGGCCCCTATCTCTGTGGCAGGGAAAGAGGCAGAGCTGGAGGTGGCAGTGGGTGAGGCAAAAGCGGGGAGTTAAGGGGTTGGGGGAGGACGTCTGAAGTAGATCACCTGTCCCCAGTGATTCACCATGATGCCAAGGAAACTTAAGCTTCTGGGTCCCTCACTGGCACAGGCCCCTGTGGAAGGCTTGGGGGAGGGGTGCTAAAAACTGAGTA... | GTTAGATGAGAGGACATGTGGATGAGTTGCCCACCCAGATATGCGAGCTGACCCTAGAGTCCCCTCAGTTACTGGTGGCATGTCCAGGATTTGCTGTGGCCACAGCAGGGCCCCTATCTCTGTGGCAGGGAAAGAGGCAGAGCTGGAGGTGGCAGTGGGTGAGGCAAAAGCGGGGAGTTAAGGGGTTGGGGGAGGACGTCTGAAGTAGATCACCTGTCCCCAGTGATTCACCATGATGCCAAGGAAACTTAAGCTTCTGGGTCCCTCACTGGCACAGGCCCCTGTGGAAGGCTTGGGGGAGGGGTGCTAAAAACTGAGTA... | pathogenic | 229,018 |
Gene mutation in FMN1 (formin 1) at chromosome 15, position 32798901—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CTTATTAGCCATCATCAACTTTCAGAGATGTTGTTTTAGGGTAGAAACCTTGGTGATCCATCCTCACAGAGCATGGCTGGAATGAAGGGTCCCCTGAAACTGCGAAATGAGAAGAACCAAAAAGGGTCTTGTGAGGTCATGACCCTGTAAAGGGGTTGGTTTACAGAGTGTGAAGCAGGCAATTCAACAGCTGCACCCAGGAAGCAATGCCACAAACGCCCGTGGCTGGGAATCAGAGATACTGTCATTTTGAAGGACTTCTGGATACCACCTCTATGACAGACTCACAATTTCTTTGATCTAACTTCTATGATACAGAA... | CTTATTAGCCATCATCAACTTTCAGAGATGTTGTTTTAGGGTAGAAACCTTGGTGATCCATCCTCACAGAGCATGGCTGGAATGAAGGGTCCCCTGAAACTGCGAAATGAGAAGAACCAAAAAGGGTCTTGTGAGGTCATGACCCTGTAAAGGGGTTGGTTTACAGAGTGTGAAGCAGGCAATTCAACAGCTGCACCCAGGAAGCAATGCCACAAACGCCCGTGGCTGGGAATCAGAGATACTGTCATTTTGAAGGACTTCTGGATACCACCTCTATGACAGACTCACAATTTCTTTGATCTAACTTCTATGATACAGAA... | benign | 229,142 |
Variant chromosome 15, position 33821253, gene RYR3 (ryanodine receptor 3): benign or pathogenic? Disease(s)? | benign | ACAGCCTAAAACTATAAACTTCATCTCTGAATTCCATGTTAAGCCCCTGCTGGTTCACATTTTCAGAGTGGTTTCTAAGAATCAGAGTGGGGGAAGGGATTTTCTAATTAATTCACTAGTACTTATAATTTGAGATTTATATGACTCTTAGTCTTTATTGTGGGGTCCAAAGAGTAGCCTGCTAAGGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATATAAAAAAG... | ACAGCCTAAAACTATAAACTTCATCTCTGAATTCCATGTTAAGCCCCTGCTGGTTCACATTTTCAGAGTGGTTTCTAAGAATCAGAGTGGGGGAAGGGATTTTCTAATTAATTCACTAGTACTTATAATTTGAGATTTATATGACTCTTAGTCTTTATTGTGGGGTCCAAAGAGTAGCCTGCTAAGGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATATAAAAAAG... | benign | 229,322 |
Assess the variant on chromosome 15, position 33844878, impacting RYR3 (ryanodine receptor 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GATCACGAAAATGCAGTCACACAGCACTTCAAGGCAAGGCTCGAGTCCTCTGCTGGTGGCGTGTTTAGGCCTTTGGCTCCCTGAGCAATAAAGCCAGAGCAGGATTCTTTATACCAATTCTAAGCAATTTTTTTTTAAATCAACATTTTGGTTCCATGTTCATGACACGACACAGTCATGCCATGGCTGTGTTAAGAATGCCAGGGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTC... | GATCACGAAAATGCAGTCACACAGCACTTCAAGGCAAGGCTCGAGTCCTCTGCTGGTGGCGTGTTTAGGCCTTTGGCTCCCTGAGCAATAAAGCCAGAGCAGGATTCTTTATACCAATTCTAAGCAATTTTTTTTTAAATCAACATTTTGGTTCCATGTTCATGACACGACACAGTCATGCCATGGCTGTGTTAAGAATGCCAGGGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTC... | benign | 229,339 |
Does the variant on chromosome 15 at location 34236021 affecting gene SLC12A6 (solute carrier family 12 member 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | CTTCAAAACTTGTCAAGGAGACAGGCAAAAGAAGAGCACAAACTTAAAACCTGGCATCATCATAATCTGAGGTTATCTGATCATAGAGCTACAAAATTAGCTGCTTAATTATTATATATTCAGAAAAGTCTGAACTTTGGATTGAATTTAACCCTGTGAAGTAACCAGAGATCCAGTCCTTTTGCATACATAATACCAGACTCCCATTTGTGTATTTAAAAAATGGGAAAACCTAGAAGTGTTACTCTAAATAAGATAAAAATGATGAAAGAAGAAGAAAAGCCACAATAGGGCAGCTAACAAGATTCCTAGAGAGAACC... | CTTCAAAACTTGTCAAGGAGACAGGCAAAAGAAGAGCACAAACTTAAAACCTGGCATCATCATAATCTGAGGTTATCTGATCATAGAGCTACAAAATTAGCTGCTTAATTATTATATATTCAGAAAAGTCTGAACTTTGGATTGAATTTAACCCTGTGAAGTAACCAGAGATCCAGTCCTTTTGCATACATAATACCAGACTCCCATTTGTGTATTTAAAAAATGGGAAAACCTAGAAGTGTTACTCTAAATAAGATAAAAATGATGAAAGAAGAAGAAAAGCCACAATAGGGCAGCTAACAAGATTCCTAGAGAGAACC... | pathogenic | 229,365 |
A mutation at chromosome position 34236206 on chromosome 15 in gene SLC12A6 (solute carrier family 12 member 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ATACATAATACCAGACTCCCATTTGTGTATTTAAAAAATGGGAAAACCTAGAAGTGTTACTCTAAATAAGATAAAAATGATGAAAGAAGAAGAAAAGCCACAATAGGGCAGCTAACAAGATTCCTAGAGAGAACCCAAGTAATTTCTAAGTGAAGCTGCTCAAGTCAGATTTTTCTGCCAGTTCGGTTTGTCTTTTTCTTTTTAAACCTTTTTCTTTTCTTTCTTTTTTTTTTGAGACAGAATTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGTTCAAGTGAT... | ATACATAATACCAGACTCCCATTTGTGTATTTAAAAAATGGGAAAACCTAGAAGTGTTACTCTAAATAAGATAAAAATGATGAAAGAAGAAGAAAAGCCACAATAGGGCAGCTAACAAGATTCCTAGAGAGAACCCAAGTAATTTCTAAGTGAAGCTGCTCAAGTCAGATTTTTCTGCCAGTTCGGTTTGTCTTTTTCTTTTTAAACCTTTTTCTTTTCTTTCTTTTTTTTTTGAGACAGAATTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGTTCAAGTGAT... | benign | 229,369 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 34236786, gene SLC12A6 (solute carrier family 12 member 6): what disease(s) if pathogenic? | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | TCCCGTATCCCAGGAGTCCTGGGATGAAGGTATGAGGAAGAATCCCTATCTCTTTTTTCCCCTCAGTTAAAGGAGGTTCTATCTCAGCTTCTCCCCTAACTCTATCCAAAAGAAAGGCTTTGCAAAGCGGGTAGAACCTAAAAAGGCGAAAGGATGTGGGTATGCTGTCTGTAGGATTGTCAGGAAGGGTTTTATACACTGAATATTAGATGTCATGTTGCAAATACACCACCTAAAACTAGAACTGAATTATATTTGCCCCAACTCCCCTAAAAGAGTTTAATCTTATAACTTTGTAAAAATCCTTGCCTAGGACTTTT... | TCCCGTATCCCAGGAGTCCTGGGATGAAGGTATGAGGAAGAATCCCTATCTCTTTTTTCCCCTCAGTTAAAGGAGGTTCTATCTCAGCTTCTCCCCTAACTCTATCCAAAAGAAAGGCTTTGCAAAGCGGGTAGAACCTAAAAAGGCGAAAGGATGTGGGTATGCTGTCTGTAGGATTGTCAGGAAGGGTTTTATACACTGAATATTAGATGTCATGTTGCAAATACACCACCTAAAACTAGAACTGAATTATATTTGCCCCAACTCCCCTAAAAGAGTTTAATCTTATAACTTTGTAAAAATCCTTGCCTAGGACTTTT... | pathogenic | 229,376 |
Gene SLC12A6 (solute carrier family 12 member 6) variant at chromosome position 34238297 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | CTTCATCTTTGGTTATTTTGAAGCAGTAATGGGTTATAGTGGAATAACTGACAGAGTGAGAAGGAATTTGTCATCCTTGAAAACAATATAGTATCATCCCTTTTTTTTTTGGTTTGAGACAGAGTCTTCCTCTGTCACGCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCACTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTCGTACTTTAGTACAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACT... | CTTCATCTTTGGTTATTTTGAAGCAGTAATGGGTTATAGTGGAATAACTGACAGAGTGAGAAGGAATTTGTCATCCTTGAAAACAATATAGTATCATCCCTTTTTTTTTTGGTTTGAGACAGAGTCTTCCTCTGTCACGCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCACTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTCGTACTTTAGTACAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACT... | pathogenic | 229,386 |
Regarding the variant found on chromosome 15 at position 34239087 in gene SLC12A6: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | GTGTTGCCTTGAAACACAAAATACAAACTCCAGTCTCTCTTTTTTATACTGTTAGGTTTTTTTTAAAAGCCATGTGTGATTTTAAGCTGAATATATGAATAAAAATTTCATAAAACTATATTAAGCAGATGAGAATCTGGCAGAAATATAAGGGCTGTGTAATAAACAAGAAAGCAAAACCAAAAAATAACATCAAACATGCATCACATATACATTCTACTTAGGGCAACAAATTAGGGTTTTTTTTTGTTTTTTTTTTGGCACTAGGGGATTAATCCACATTTAGATCTGAAAAATTTCCCAAACCAGAAAAGATTCAA... | GTGTTGCCTTGAAACACAAAATACAAACTCCAGTCTCTCTTTTTTATACTGTTAGGTTTTTTTTAAAAGCCATGTGTGATTTTAAGCTGAATATATGAATAAAAATTTCATAAAACTATATTAAGCAGATGAGAATCTGGCAGAAATATAAGGGCTGTGTAATAAACAAGAAAGCAAAACCAAAAAATAACATCAAACATGCATCACATATACATTCTACTTAGGGCAACAAATTAGGGTTTTTTTTTGTTTTTTTTTTGGCACTAGGGGATTAATCCACATTTAGATCTGAAAAATTTCCCAAACCAGAAAAGATTCAA... | pathogenic | 229,390 |
The genetic variant at chromosome 15, position 34240659, affecting gene SLC12A6 (solute carrier family 12 member 6): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_axonal,_IIa_2II', 'SLC12A6-related_disorder'] | ATTCCCATTACTACATTTCTAAGGGGGGATATGTGAATTTGAGAGATTATGATGCTGAAGAACAATTCTTGCAATTCCTGTGAGAACATCAATATGGAAAATCACAAATGAAAACACGGCAATTTTGGAGATAATTCCTAGCACAAGACTTGACAGAAATAATTCATGAACATAATGTGAAGCTGAAGGGGGTAGGTAGAATCTGGGTATTACTACCAATAGTTTTTCAGGTTGCCTTATAAGACTATGCTTCAGCAATGGCATAGTCTCTACTTTAGGAGGCTGGGGGTGACAGAGATTTAACTATATACCCTCGACTT... | ATTCCCATTACTACATTTCTAAGGGGGGATATGTGAATTTGAGAGATTATGATGCTGAAGAACAATTCTTGCAATTCCTGTGAGAACATCAATATGGAAAATCACAAATGAAAACACGGCAATTTTGGAGATAATTCCTAGCACAAGACTTGACAGAAATAATTCATGAACATAATGTGAAGCTGAAGGGGGTAGGTAGAATCTGGGTATTACTACCAATAGTTTTTCAGGTTGCCTTATAAGACTATGCTTCAGCAATGGCATAGTCTCTACTTTAGGAGGCTGGGGGTGACAGAGATTTAACTATATACCCTCGACTT... | pathogenic | 229,393 |
The mutation impacting SLC12A6 (solute carrier family 12 member 6) on chromosome 15 at position 34241319: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | TATATCATCTACAGAAAAGTCCAAAAAGTTAAAATTATCCCAAAGGAATTTCATGATCTTTTGTCTTTTTGCTTACTACGTATTTTTGCCTCTGTAGCTGGTTGTCTACATGTAGTTTCTCTGCTTTTTCCTCTGTTCTGCTTTTGTTCCTTTGCACCATACCAAAAAACTGGGAACAGGGATCTCTACAAAGTGAATATTCAACATTCTTTCTCAGTTGACCAGGGTGATTCACTATTGTGAACACGATCTCCTTCCTGCCTCAGCCCCAGTCATGCCCTGACTCATCTTACCAGAAACTCAGTATGATGATTCAGTTT... | TATATCATCTACAGAAAAGTCCAAAAAGTTAAAATTATCCCAAAGGAATTTCATGATCTTTTGTCTTTTTGCTTACTACGTATTTTTGCCTCTGTAGCTGGTTGTCTACATGTAGTTTCTCTGCTTTTTCCTCTGTTCTGCTTTTGTTCCTTTGCACCATACCAAAAAACTGGGAACAGGGATCTCTACAAAGTGAATATTCAACATTCTTTCTCAGTTGACCAGGGTGATTCACTATTGTGAACACGATCTCCTTCCTGCCTCAGCCCCAGTCATGCCCTGACTCATCTTACCAGAAACTCAGTATGATGATTCAGTTT... | pathogenic | 229,398 |
Determine if the mutation at chromosome 15, position 34244065 in gene SLC12A6 (solute carrier family 12 member 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | TTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTTTAAAGTAGCTGAAAAAGAAGCCTATGTTAAAGGTGCTTCTCAAACTATCTGTGGTGAGGTATTATTTTTTAAAAACTTTGAAACT... | TTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTTTAAAGTAGCTGAAAAAGAAGCCTATGTTAAAGGTGCTTCTCAAACTATCTGTGGTGAGGTATTATTTTTTAAAAACTTTGAAACT... | pathogenic | 229,408 |
The chromosome 15, position 34245696 genetic variant in gene SLC12A6 (solute carrier family 12 member 6): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | TAGAACCTCTGACTCTGTAACCCTAAGAGACAAACAGGAAAATAAACATGCAAGAGAAGGTTGTTTTAACCTGAAAATTATAGAAGGCTGGATATCTCTATTTAGTGCTTTTGCTCTATTCGTATTGGGTGTTATAAGTTATTATAAAGTGATATAGGAAAATAGGATAGGAGGATGAGGATTCAGATAAGAATTGAAAGTTGAAACAGTATGAAATGGCTGACCAAGAAAAAAATTTTATCGAGAACCCAGACTCTCCTAGTTTTCTAGTTCAAAGATGGGTTCTCTCCAAACGTGAGTAAAAAGAATAAAAGAAGCAG... | TAGAACCTCTGACTCTGTAACCCTAAGAGACAAACAGGAAAATAAACATGCAAGAGAAGGTTGTTTTAACCTGAAAATTATAGAAGGCTGGATATCTCTATTTAGTGCTTTTGCTCTATTCGTATTGGGTGTTATAAGTTATTATAAAGTGATATAGGAAAATAGGATAGGAGGATGAGGATTCAGATAAGAATTGAAAGTTGAAACAGTATGAAATGGCTGACCAAGAAAAAAATTTTATCGAGAACCCAGACTCTCCTAGTTTTCTAGTTCAAAGATGGGTTCTCTCCAAACGTGAGTAAAAAGAATAAAAGAAGCAG... | pathogenic | 229,416 |
Variant in gene SLC12A6 (solute carrier family 12 member 6), located at chromosome 15 position 34250365: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GTGAATTAGTCTTGATGCACATGTGCAAGCATTTCTGTTAGATATACCTAGAAGTGGAAATGCTGAGTCATAGGTAAGCACATGTTCAACTTTAGGAGATAATAACCAATAATTTTCCAAAATGATACTCTAATTTACACTCTCAATAATAATTTTTATATCATGGTGTAACTTACCAAAGCTCCATGAATTTCCTACTACAATGGTATAGTAATATACTATACTATATACATACATATATACACCCCCACCCACACACACACACACACACACACATATACTGTGTTATATACATATATATATTGTGCTTTTTATTTTTG... | GTGAATTAGTCTTGATGCACATGTGCAAGCATTTCTGTTAGATATACCTAGAAGTGGAAATGCTGAGTCATAGGTAAGCACATGTTCAACTTTAGGAGATAATAACCAATAATTTTCCAAAATGATACTCTAATTTACACTCTCAATAATAATTTTTATATCATGGTGTAACTTACCAAAGCTCCATGAATTTCCTACTACAATGGTATAGTAATATACTATACTATATACATACATATATACACCCCCACCCACACACACACACACACACACACATATACTGTGTTATATACATATATATATTGTGCTTTTTATTTTTG... | benign | 229,425 |
Evaluate the clinical significance of the mutation at chromosome 15, position 34250741 in gene SLC12A6 (solute carrier family 12 member 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TAGGGGAGAGTAATATGAAAACAAGTAGCTGCAATATAGCATCATAAATGCTATAATATAGTATATTCAAATGGAGTTGCTGAACACAAGGTGGAGTGTTTACCTCTGTTTGGGTGAGTATGGGAAAGCTTTACAGGAGAGAAGACCCTTAGCCTAGTCTCTAAGAGGATGAATATGAGTTGGCCAGGTGGGAGTAACCTATTCTAAGCAAAGGAAATAACACAGACAAATGTGTTTATACGTGGAGACATAATAAGACATATTAAACTCTAAGTTAGGGAGCTTATGAGGGAATGGCAGGAGATAACAGTAAAAAGAGG... | TAGGGGAGAGTAATATGAAAACAAGTAGCTGCAATATAGCATCATAAATGCTATAATATAGTATATTCAAATGGAGTTGCTGAACACAAGGTGGAGTGTTTACCTCTGTTTGGGTGAGTATGGGAAAGCTTTACAGGAGAGAAGACCCTTAGCCTAGTCTCTAAGAGGATGAATATGAGTTGGCCAGGTGGGAGTAACCTATTCTAAGCAAAGGAAATAACACAGACAAATGTGTTTATACGTGGAGACATAATAAGACATATTAAACTCTAAGTTAGGGAGCTTATGAGGGAATGGCAGGAGATAACAGTAAAAAGAGG... | benign | 229,430 |
Regarding the variant found on chromosome 15 at position 34250746 in gene SLC12A6 (solute carrier family 12 member 6): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GAGAGTAATATGAAAACAAGTAGCTGCAATATAGCATCATAAATGCTATAATATAGTATATTCAAATGGAGTTGCTGAACACAAGGTGGAGTGTTTACCTCTGTTTGGGTGAGTATGGGAAAGCTTTACAGGAGAGAAGACCCTTAGCCTAGTCTCTAAGAGGATGAATATGAGTTGGCCAGGTGGGAGTAACCTATTCTAAGCAAAGGAAATAACACAGACAAATGTGTTTATACGTGGAGACATAATAAGACATATTAAACTCTAAGTTAGGGAGCTTATGAGGGAATGGCAGGAGATAACAGTAAAAAGAGGTAGAG... | GAGAGTAATATGAAAACAAGTAGCTGCAATATAGCATCATAAATGCTATAATATAGTATATTCAAATGGAGTTGCTGAACACAAGGTGGAGTGTTTACCTCTGTTTGGGTGAGTATGGGAAAGCTTTACAGGAGAGAAGACCCTTAGCCTAGTCTCTAAGAGGATGAATATGAGTTGGCCAGGTGGGAGTAACCTATTCTAAGCAAAGGAAATAACACAGACAAATGTGTTTATACGTGGAGACATAATAAGACATATTAAACTCTAAGTTAGGGAGCTTATGAGGGAATGGCAGGAGATAACAGTAAAAAGAGGTAGAG... | benign | 229,431 |
Mutation at chromosome 15, position 34255361, within SLC12A6 (solute carrier family 12 member 6): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | TGTACTAATCAAAAAAGAGGAGAAGCCCCAAAGGTGAACCTGAGACAAAATGGAATTTCCCAAATTGAGATATAACCAGAATGTCACCTTTAGAAATTTTATGCCCCTAAAAAGGACCTTCAGCTGTATTACAGTCCCTAGATAAGCAGATTAAAAGTTTAAGATGGAATCTACTTCTGCCATCATGCAGCATAGCATAGAAGAAATACTGAATGGGGAGTCAGGAAATCACAGTTCATCTTCTTGCTCTGCCATTAATTAACTTTGAGGTAAGTCATTAAACCTACTGGAACTGTCTTTTTGTCTTGAAAAATCTTTTT... | TGTACTAATCAAAAAAGAGGAGAAGCCCCAAAGGTGAACCTGAGACAAAATGGAATTTCCCAAATTGAGATATAACCAGAATGTCACCTTTAGAAATTTTATGCCCCTAAAAAGGACCTTCAGCTGTATTACAGTCCCTAGATAAGCAGATTAAAAGTTTAAGATGGAATCTACTTCTGCCATCATGCAGCATAGCATAGAAGAAATACTGAATGGGGAGTCAGGAAATCACAGTTCATCTTCTTGCTCTGCCATTAATTAACTTTGAGGTAAGTCATTAAACCTACTGGAACTGTCTTTTTGTCTTGAAAAATCTTTTT... | pathogenic | 229,457 |
Variant at chromosome 15, position 34255385, gene SLC12A6 (solute carrier family 12 member 6): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Abnormal_facial_shape', 'Clinodactyly_of_the_5th_finger', 'Corpus_callosum,_agenesis_of', 'Hypertelorism', 'Low-set_ears'] | GCCCCAAAGGTGAACCTGAGACAAAATGGAATTTCCCAAATTGAGATATAACCAGAATGTCACCTTTAGAAATTTTATGCCCCTAAAAAGGACCTTCAGCTGTATTACAGTCCCTAGATAAGCAGATTAAAAGTTTAAGATGGAATCTACTTCTGCCATCATGCAGCATAGCATAGAAGAAATACTGAATGGGGAGTCAGGAAATCACAGTTCATCTTCTTGCTCTGCCATTAATTAACTTTGAGGTAAGTCATTAAACCTACTGGAACTGTCTTTTTGTCTTGAAAAATCTTTTTTTCTGTAATCTGGTTAAATCAACA... | GCCCCAAAGGTGAACCTGAGACAAAATGGAATTTCCCAAATTGAGATATAACCAGAATGTCACCTTTAGAAATTTTATGCCCCTAAAAAGGACCTTCAGCTGTATTACAGTCCCTAGATAAGCAGATTAAAAGTTTAAGATGGAATCTACTTCTGCCATCATGCAGCATAGCATAGAAGAAATACTGAATGGGGAGTCAGGAAATCACAGTTCATCTTCTTGCTCTGCCATTAATTAACTTTGAGGTAAGTCATTAAACCTACTGGAACTGTCTTTTTGTCTTGAAAAATCTTTTTTTCTGTAATCTGGTTAAATCAACA... | pathogenic | 229,458 |
Gene SLC12A6 (solute carrier family 12 member 6) variant at chromosome 15, position 34257759—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | CTCTAATGGTAGCACTTTGGGAGGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATTCCAACTAATAAAAGCTAAGAATGTGACTGAAATTAATGCATTCTAGT... | CTCTAATGGTAGCACTTTGGGAGGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATTCCAACTAATAAAAGCTAAGAATGTGACTGAAATTAATGCATTCTAGT... | pathogenic | 229,466 |
Determine if the mutation at chromosome 15, position 34257781 in gene SLC12A6 (solute carrier family 12 member 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy'] | GGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATTCCAACTAATAAAAGCTAAGAATGTGACTGAAATTAATGCATTCTAGTTTAAAAAATAAAGAGATTTTAA... | GGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATTCCAACTAATAAAAGCTAAGAATGTGACTGAAATTAATGCATTCTAGTTTAAAAAATAAAGAGATTTTAA... | pathogenic | 229,467 |
The genetic variant at chromosome 15, position 34275365, affecting gene SLC12A6 (solute carrier family 12 member 6): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['SLC12A6-related_disorder'] | CTCCAGCCTGGGTGACAGATCAAGACTCCATCTCAAAAAAACCAAAAACCAAAAAAACAAAAAACCTCTAACATCACACGGTCAGGACCTTGGTGATCAGATTTGTATATTTATGTCAAACCATTTACTTAACAAATATATACTGAGTGCCTAGGATGTCAGGTACTGTTTCAGCATATAAACTCACTAAAGGAATGAGGGCTATGGTCTCATAAACTCTTCTCATTAACCCAAGGACTATCCTAAGTCTTTAATATAGAAAGAACGAAAAAGGAGTATCCCAGTTTCTTCAACTAATCCTCTGAAGTTTTTACTTTCCC... | CTCCAGCCTGGGTGACAGATCAAGACTCCATCTCAAAAAAACCAAAAACCAAAAAAACAAAAAACCTCTAACATCACACGGTCAGGACCTTGGTGATCAGATTTGTATATTTATGTCAAACCATTTACTTAACAAATATATACTGAGTGCCTAGGATGTCAGGTACTGTTTCAGCATATAAACTCACTAAAGGAATGAGGGCTATGGTCTCATAAACTCTTCTCATTAACCCAAGGACTATCCTAAGTCTTTAATATAGAAAGAACGAAAAAGGAGTATCCCAGTTTCTTCAACTAATCCTCTGAAGTTTTTACTTTCCC... | pathogenic | 229,491 |
Does the chromosome 15 mutation at position 34791307 within gene ACTC1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,571 |
Is chromosome 15, position 34791307, gene ACTC1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,572 |
A genetic variant on chromosome 15, position 34791307, affects the gene ACTC1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,573 |
Considering the genetic mutation at chromosome 15, position 34791307, impacting ACTC1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,574 |
A mutation at chromosome position 34791307 on chromosome 15 in gene ACTC1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,575 |
Is the chromosome 15, position 34791307 variant in ACTC1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,576 |
Located at chromosome 15 position 34791307, the variant affecting gene ACTC1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,577 |
Variant in ACTC1, chromosome 15, position 34791307—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,578 |
Classify the chromosome 15 variant at position 34791307 affecting gene ACTC1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,579 |
Benign or pathogenic: chromosome 15, position 34791307, gene ACTC1 variant? Disease(s) if pathogenic? | benign | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | AATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCCCCTTGCTCCCTCAG... | benign | 229,580 |
Variant in gene ACTC1, located at chromosome 15 position 34792393: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTA... | TTTGGAAGACTCCAAGAAGCATAATACCGTCATCCTGACTGGAAGGTAGATGGAGAGAGAAGGCATCTTAGAAGCATTTGCGGTGGACAATGGATGGGCCTGCCTCATCGTACTCTTGCTTGCTAATCCACATTTGCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTA... | benign | 229,601 |
Mutation found at chromosome 15 position 34793421, gene ACTC1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy_11'] | AGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTT... | AGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATACACGTTTAAACTAAAATGAATGTAATTTTTGTTTATGGACTTAAATCAGATCCTGACAAAGTTCCTTATGGAAAGCATTGCTTAGGAAGGATATTT... | pathogenic | 229,643 |
A genetic variant on chromosome 15, position 34794656, affects the gene ACTC1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATG... | AGGACAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATG... | benign | 229,657 |
Benign or pathogenic: chromosome 15, position 34794660, gene ACTC1 variant? Disease(s) if pathogenic? | benign | CAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATT... | CAACACCACTGCTCTAGCCACGGCAAAGCCCGCTTCCAATCTTGGCTAAGAGATGCTAGCAATGGGCATTGATCCAGATAAAATTAGATTCCTTACACACAAAGAATAAAAATGCGCATCAGGAATACTAAATCTGAAGCAAACTGCAGCTCATCTTTTTAACTATTATAGTAGAAAAAATTCCCGAGGACACTTTCAAATGACCATCTTTCTTGTCAGCCACGAGCACATTATGTAAGCACCCAAGGGTGTTTTTCTTTGCTCCTATTGAACTTACACGTTTCTCTCTCTTTTGACTCAGACCCTGTATGGAATGTATT... | benign | 229,658 |
Does the variant on chromosome 15 at location 36896663 affecting gene MEIS2 (Meis homeobox 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiac_malformation,_cleft_lip/palate,_microcephaly,_and_digital_anomalies', 'Cleft_palate', 'Inborn_genetic_diseases', 'MEIS2-related_disorder'] | TGCAGTTATGGGCAAGGAAAAATAAAATGGGGGCAAATTATAAAAAATAAAATAAAGTCTCTGAAGTGATAGTGAAGACAGATCGCACCCGACTGTACTTACTTCCCCCTTGCTTTGCGATTGCTTTACATGATGAAGGTTACATGTAGTGCCATTGCCCATCCATGCCCATATTCATGCCCATTCCACTCATAGGTCCTAGAAAGGAGATAAAATCCAAGAAGAGGCCGGAAAATCAGCAATAATTGATGGTGAAAAAATAGAAGGAAACTCAGATTCCTTTTCACTTATTGCCTTGGTTTAAAAAGAAAAAAGAAAAA... | TGCAGTTATGGGCAAGGAAAAATAAAATGGGGGCAAATTATAAAAAATAAAATAAAGTCTCTGAAGTGATAGTGAAGACAGATCGCACCCGACTGTACTTACTTCCCCCTTGCTTTGCGATTGCTTTACATGATGAAGGTTACATGTAGTGCCATTGCCCATCCATGCCCATATTCATGCCCATTCCACTCATAGGTCCTAGAAAGGAGATAAAATCCAAGAAGAGGCCGGAAAATCAGCAATAATTGATGGTGAAAAAATAGAAGGAAACTCAGATTCCTTTTCACTTATTGCCTTGGTTTAAAAAGAAAAAAGAAAAA... | pathogenic | 229,702 |
Benign or pathogenic: chromosome 15, position 36950363, gene MEIS2 (Meis homeobox 2) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiac_malformation,_cleft_lip/palate,_microcephaly,_and_digital_anomalies', 'Inborn_genetic_diseases'] | CTTGGGGCTCAATGGAATTCAGAAAGGAAGGGTGTTCTTTCCAGTTCCAGCCAGGTGTCTAATTGTGGGAAATGCTAGATTGTAGATTCTAAAAATTCTTCATTCTTCAGGTGCGAAGAGTATATCAAAAACTATAGGTAATGGATGATAAGGAACAGTATTTTCAAAAAGAACAAGATCAAATATCAATGCCAAATATCCATGCGGAAATTTTATTTTTCTCAGAAATTCCCATCACAAGCTCCCTCAATTGCCTCAAATGTACAAAAATTATGATTCTAAAGCAATGTTAACTGCGTCATGGACCAATGTGTATATAT... | CTTGGGGCTCAATGGAATTCAGAAAGGAAGGGTGTTCTTTCCAGTTCCAGCCAGGTGTCTAATTGTGGGAAATGCTAGATTGTAGATTCTAAAAATTCTTCATTCTTCAGGTGCGAAGAGTATATCAAAAACTATAGGTAATGGATGATAAGGAACAGTATTTTCAAAAAGAACAAGATCAAATATCAATGCCAAATATCCATGCGGAAATTTTATTTTTCTCAGAAATTCCCATCACAAGCTCCCTCAATTGCCTCAAATGTACAAAAATTATGATTCTAAAGCAATGTTAACTGCGTCATGGACCAATGTGTATATAT... | pathogenic | 229,703 |
Chromosome 15, position 37036932, gene MEIS2 (Meis homeobox 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiac_malformation,_cleft_lip/palate,_microcephaly,_and_digital_anomalies'] | GCCCTTGTCTCAGCTTGACCTTCAGCTAGTAACTTCCCTTTTTGGGTCTCTGTTTCCTCATCTATAAACAGAGCAGCTGCATTCTCTAAGGTTCTACTGTTCTCTGACATTGGTTTTGATGACAGAGAGGTTGAAAACACACGTAGCTGTTTGCTTGGAAAGCAGCTGTTGAAGTGTTTATTTTCGACCAAGAAAGACCAAGCATGGAGGAGGACAGAGGGAGGGAACCAAACAGGTGAGCTGGTCAGGAGAAGGCAGCTGGCCTGTCATCCGCAGCTACACTGCCGTTCTTAGTTGCTACTCTAACCAAACAAACCTTC... | GCCCTTGTCTCAGCTTGACCTTCAGCTAGTAACTTCCCTTTTTGGGTCTCTGTTTCCTCATCTATAAACAGAGCAGCTGCATTCTCTAAGGTTCTACTGTTCTCTGACATTGGTTTTGATGACAGAGAGGTTGAAAACACACGTAGCTGTTTGCTTGGAAAGCAGCTGTTGAAGTGTTTATTTTCGACCAAGAAAGACCAAGCATGGAGGAGGACAGAGGGAGGGAACCAAACAGGTGAGCTGGTCAGGAGAAGGCAGCTGGCCTGTCATCCGCAGCTACACTGCCGTTCTTAGTTGCTACTCTAACCAAACAAACCTTC... | pathogenic | 229,705 |
Benign or pathogenic: chromosome 15, position 38322261, gene SPRED1 (sprouty related EVH1 domain containing 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Legius_syndrome'] | AGCAGACTCTAGCAGACCTCCCCTCCAAAAGTATAAATTAGAGATTCCTAGTCCATGATCTGTGAATGAGTTCCTTGGGAAGTGCATAAAGCCTAAAAGATTTCTGAGGAGAAGTATTGGTTGAGTACCTAATGTTTGTCTGCCACTGTAGTTTAAGGATTTGGCAAACAGACAAAGACCAGCTCATGCAGGGCCTAGTAGGTCATAGTAAGAATTTTAGTCTTGAAAGCATTGAAAAGACATTGAAACTAGGGAGTGGTCCAGTAAAGTTGCTATTTTTTTTTAAGAAAAATTATTACTCTACCTGCAGAGTAGTGCAA... | AGCAGACTCTAGCAGACCTCCCCTCCAAAAGTATAAATTAGAGATTCCTAGTCCATGATCTGTGAATGAGTTCCTTGGGAAGTGCATAAAGCCTAAAAGATTTCTGAGGAGAAGTATTGGTTGAGTACCTAATGTTTGTCTGCCACTGTAGTTTAAGGATTTGGCAAACAGACAAAGACCAGCTCATGCAGGGCCTAGTAGGTCATAGTAAGAATTTTAGTCTTGAAAGCATTGAAAAGACATTGAAACTAGGGAGTGGTCCAGTAAAGTTGCTATTTTTTTTTAAGAAAAATTATTACTCTACCTGCAGAGTAGTGCAA... | pathogenic | 229,737 |
A genetic variant on chromosome 15, position 38322336, affects the gene SPRED1 (sprouty related EVH1 domain containing 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Legius_syndrome', 'Noonan_syndrome_and_Noonan-related_syndrome'] | TGGGAAGTGCATAAAGCCTAAAAGATTTCTGAGGAGAAGTATTGGTTGAGTACCTAATGTTTGTCTGCCACTGTAGTTTAAGGATTTGGCAAACAGACAAAGACCAGCTCATGCAGGGCCTAGTAGGTCATAGTAAGAATTTTAGTCTTGAAAGCATTGAAAAGACATTGAAACTAGGGAGTGGTCCAGTAAAGTTGCTATTTTTTTTTAAGAAAAATTATTACTCTACCTGCAGAGTAGTGCAATTACTATTAGTAATTCACTACTACTAGTAATATCTGAGGGGATCATCAGCAGTGCATGGAAGAGATGTGCAAGTG... | TGGGAAGTGCATAAAGCCTAAAAGATTTCTGAGGAGAAGTATTGGTTGAGTACCTAATGTTTGTCTGCCACTGTAGTTTAAGGATTTGGCAAACAGACAAAGACCAGCTCATGCAGGGCCTAGTAGGTCATAGTAAGAATTTTAGTCTTGAAAGCATTGAAAAGACATTGAAACTAGGGAGTGGTCCAGTAAAGTTGCTATTTTTTTTTAAGAAAAATTATTACTCTACCTGCAGAGTAGTGCAATTACTATTAGTAATTCACTACTACTAGTAATATCTGAGGGGATCATCAGCAGTGCATGGAAGAGATGTGCAAGTG... | pathogenic | 229,742 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 38322357, gene SPRED1 (sprouty related EVH1 domain containing 1): what disease(s) if pathogenic? | pathogenic; ['Legius_syndrome'] | AAGATTTCTGAGGAGAAGTATTGGTTGAGTACCTAATGTTTGTCTGCCACTGTAGTTTAAGGATTTGGCAAACAGACAAAGACCAGCTCATGCAGGGCCTAGTAGGTCATAGTAAGAATTTTAGTCTTGAAAGCATTGAAAAGACATTGAAACTAGGGAGTGGTCCAGTAAAGTTGCTATTTTTTTTTAAGAAAAATTATTACTCTACCTGCAGAGTAGTGCAATTACTATTAGTAATTCACTACTACTAGTAATATCTGAGGGGATCATCAGCAGTGCATGGAAGAGATGTGCAAGTGATAATGGTGATTGGAAAAGAG... | AAGATTTCTGAGGAGAAGTATTGGTTGAGTACCTAATGTTTGTCTGCCACTGTAGTTTAAGGATTTGGCAAACAGACAAAGACCAGCTCATGCAGGGCCTAGTAGGTCATAGTAAGAATTTTAGTCTTGAAAGCATTGAAAAGACATTGAAACTAGGGAGTGGTCCAGTAAAGTTGCTATTTTTTTTTAAGAAAAATTATTACTCTACCTGCAGAGTAGTGCAATTACTATTAGTAATTCACTACTACTAGTAATATCTGAGGGGATCATCAGCAGTGCATGGAAGAGATGTGCAAGTGATAATGGTGATTGGAAAAGAG... | pathogenic | 229,745 |
Located at chromosome 15 position 38324775, the variant affecting gene SPRED1 (sprouty related EVH1 domain containing 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Legius_syndrome'] | TCCCAGTTGGTATTCTACTTGTGTATGTATGACACCAGTCACATCCTTTTTTTGGGTAATTATATAGAACTTGTAATATTCAAATGTATGTAGACTCTAGTTATTCCATGACAAAAGTCTTTACTTGATTGATTTCATTATTGAGGATTGGCAGAGACCACAAGCTCATCTATTCCTTTGTTATCTTGCCAGTCTATTAAAATTATTAACTCAAAAGCATACAGGTTTTGAAGGGAAGAATAATGTTTTTTCATGTAAGACTGGCTTATGCTTACTTAAACAAAAATCACATTAAAACCCATTTCTTCCCATAAAGGAAG... | TCCCAGTTGGTATTCTACTTGTGTATGTATGACACCAGTCACATCCTTTTTTTGGGTAATTATATAGAACTTGTAATATTCAAATGTATGTAGACTCTAGTTATTCCATGACAAAAGTCTTTACTTGATTGATTTCATTATTGAGGATTGGCAGAGACCACAAGCTCATCTATTCCTTTGTTATCTTGCCAGTCTATTAAAATTATTAACTCAAAAGCATACAGGTTTTGAAGGGAAGAATAATGTTTTTTCATGTAAGACTGGCTTATGCTTACTTAAACAAAAATCACATTAAAACCCATTTCTTCCCATAAAGGAAG... | pathogenic | 229,753 |
Chromosome 15, position 38349572, gene SPRED1 (sprouty related EVH1 domain containing 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GCTTGTCAAATCTGATGAAGAATCCTTTTGTGGTTTATATTTGAATTGCGCTGAATGTGTGTGTTAGTTTAGGGGATAATTTATCATCTTATTCGTGAATATGATATATACCTCTGTTTAGCTCTTCTTCTGTATCTTTACATAAAACTTTGTATTTTCTTTGTGAAAAGATAATACATATTTTATAGGATTATTTCTTTGTACCATTTTTGTTGTTCTATTATAAATGGAATCCTTTTAAAATTTTAATTGTGACCAGCTTTGAAGAAGCATCTCTTATGACTTTTTCAGCTGATAAATTTTCCTGAAGATTATAGCAA... | GCTTGTCAAATCTGATGAAGAATCCTTTTGTGGTTTATATTTGAATTGCGCTGAATGTGTGTGTTAGTTTAGGGGATAATTTATCATCTTATTCGTGAATATGATATATACCTCTGTTTAGCTCTTCTTCTGTATCTTTACATAAAACTTTGTATTTTCTTTGTGAAAAGATAATACATATTTTATAGGATTATTTCTTTGTACCATTTTTGTTGTTCTATTATAAATGGAATCCTTTTAAAATTTTAATTGTGACCAGCTTTGAAGAAGCATCTCTTATGACTTTTTCAGCTGATAAATTTTCCTGAAGATTATAGCAA... | benign | 229,781 |
Variant chromosome 15, position 38351124, gene SPRED1 (sprouty related EVH1 domain containing 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Legius_syndrome', 'Noonan_syndrome_and_Noonan-related_syndrome'] | ATTATTGTGACATGTGTAACTACTTTATTTCTCTTTGTGGTTGAATAATATTCCACTCTATGGATTTACTACATTTTGTTTATCCGTTCATTAGTTGATGAATATTTGGGTTGTTTGTACTTTTTTGACTATGTATTCATTACTTGTTAAAGTTTAAATATGTAAGAAAAGACCTATGGTTTTTGTTTGTGTTTTAGGTGGGGGGAAATGATTCTATTTTTATTCTCAAAACCGTTTTTGAAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCAT... | ATTATTGTGACATGTGTAACTACTTTATTTCTCTTTGTGGTTGAATAATATTCCACTCTATGGATTTACTACATTTTGTTTATCCGTTCATTAGTTGATGAATATTTGGGTTGTTTGTACTTTTTTGACTATGTATTCATTACTTGTTAAAGTTTAAATATGTAAGAAAAGACCTATGGTTTTTGTTTGTGTTTTAGGTGGGGGGAAATGATTCTATTTTTATTCTCAAAACCGTTTTTGAAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCAT... | pathogenic | 229,787 |
Gene SPRED1 (sprouty related EVH1 domain containing 1) variant at chromosome position 38351190 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Legius_syndrome'] | TACTACATTTTGTTTATCCGTTCATTAGTTGATGAATATTTGGGTTGTTTGTACTTTTTTGACTATGTATTCATTACTTGTTAAAGTTTAAATATGTAAGAAAAGACCTATGGTTTTTGTTTGTGTTTTAGGTGGGGGGAAATGATTCTATTTTTATTCTCAAAACCGTTTTTGAAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCATTTAAGTAGAAATTGTTTGTATTTTAGATAACATTTGGTCAGCCAGGCTTGGACATTCAGAGCAGAA... | TACTACATTTTGTTTATCCGTTCATTAGTTGATGAATATTTGGGTTGTTTGTACTTTTTTGACTATGTATTCATTACTTGTTAAAGTTTAAATATGTAAGAAAAGACCTATGGTTTTTGTTTGTGTTTTAGGTGGGGGGAAATGATTCTATTTTTATTCTCAAAACCGTTTTTGAAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCATTTAAGTAGAAATTGTTTGTATTTTAGATAACATTTGGTCAGCCAGGCTTGGACATTCAGAGCAGAA... | pathogenic | 229,788 |
Clinical classification of chromosome 15, position 38351228, gene SPRED1 (sprouty related EVH1 domain containing 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Legius_syndrome'] | TTTGGGTTGTTTGTACTTTTTTGACTATGTATTCATTACTTGTTAAAGTTTAAATATGTAAGAAAAGACCTATGGTTTTTGTTTGTGTTTTAGGTGGGGGGAAATGATTCTATTTTTATTCTCAAAACCGTTTTTGAAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCATTTAAGTAGAAATTGTTTGTATTTTAGATAACATTTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGT... | TTTGGGTTGTTTGTACTTTTTTGACTATGTATTCATTACTTGTTAAAGTTTAAATATGTAAGAAAAGACCTATGGTTTTTGTTTGTGTTTTAGGTGGGGGGAAATGATTCTATTTTTATTCTCAAAACCGTTTTTGAAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCATTTAAGTAGAAATTGTTTGTATTTTAGATAACATTTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGT... | pathogenic | 229,793 |
Variant in gene SPRED1 (sprouty related EVH1 domain containing 1), located at chromosome 15 position 38351230: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Legius_syndrome'] | TGGGTTGTTTGTACTTTTTTGACTATGTATTCATTACTTGTTAAAGTTTAAATATGTAAGAAAAGACCTATGGTTTTTGTTTGTGTTTTAGGTGGGGGGAAATGATTCTATTTTTATTCTCAAAACCGTTTTTGAAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCATTTAAGTAGAAATTGTTTGTATTTTAGATAACATTTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGG... | TGGGTTGTTTGTACTTTTTTGACTATGTATTCATTACTTGTTAAAGTTTAAATATGTAAGAAAAGACCTATGGTTTTTGTTTGTGTTTTAGGTGGGGGGAAATGATTCTATTTTTATTCTCAAAACCGTTTTTGAAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCATTTAAGTAGAAATTGTTTGTATTTTAGATAACATTTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGG... | pathogenic | 229,794 |
Clinical significance of chromosome 15, position 38351364, gene SPRED1 (sprouty related EVH1 domain containing 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Legius_syndrome', 'Noonan_syndrome_and_Noonan-related_syndrome'] | AAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCATTTAAGTAGAAATTGTTTGTATTTTAGATAACATTTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGGAAGCCTAAAGTCCCAAAATAGGGTAAGTAATGTTAGTTTATCTTGTGATATGGAATTTAACTAATTAATAGATAGGTAAAGTTTTCCAGTCTTTCTAATTCTCCATATAGTTGAATTGTACTAGAAAATTTTTC... | AAAAACTTTACTGCTAATAAATTATGAGGTTTTGGAACATACACTGTACAGTTTCATTAAAAGTAAAATTCTTGTGTCATTTAAGTAGAAATTGTTTGTATTTTAGATAACATTTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGGAAGCCTAAAGTCCCAAAATAGGGTAAGTAATGTTAGTTTATCTTGTGATATGGAATTTAACTAATTAATAGATAGGTAAAGTTTTCCAGTCTTTCTAATTCTCCATATAGTTGAATTGTACTAGAAAATTTTTC... | pathogenic | 229,803 |
Chromosome 15, position 38351477, gene SPRED1 (sprouty related EVH1 domain containing 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Legius_syndrome'] | TTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGGAAGCCTAAAGTCCCAAAATAGGGTAAGTAATGTTAGTTTATCTTGTGATATGGAATTTAACTAATTAATAGATAGGTAAAGTTTTCCAGTCTTTCTAATTCTCCATATAGTTGAATTGTACTAGAAAATTTTTCATTGTATAAATTTGCTGCCTATGTGCTTAAACGCTGTTAGTTAAAAACTCTGCAAACTTCTCATTTGAGTCTAAAAGATTGCCAGAGCTGCATTTATTAGATAGGACCAAAAG... | TTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGGAAGCCTAAAGTCCCAAAATAGGGTAAGTAATGTTAGTTTATCTTGTGATATGGAATTTAACTAATTAATAGATAGGTAAAGTTTTCCAGTCTTTCTAATTCTCCATATAGTTGAATTGTACTAGAAAATTTTTCATTGTATAAATTTGCTGCCTATGTGCTTAAACGCTGTTAGTTAAAAACTCTGCAAACTTCTCATTTGAGTCTAAAAGATTGCCAGAGCTGCATTTATTAGATAGGACCAAAAG... | pathogenic | 229,810 |
Evaluate the clinical significance of the mutation at chromosome 15, position 38351477 in gene SPRED1 (sprouty related EVH1 domain containing 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Legius_syndrome'] | TTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGGAAGCCTAAAGTCCCAAAATAGGGTAAGTAATGTTAGTTTATCTTGTGATATGGAATTTAACTAATTAATAGATAGGTAAAGTTTTCCAGTCTTTCTAATTCTCCATATAGTTGAATTGTACTAGAAAATTTTTCATTGTATAAATTTGCTGCCTATGTGCTTAAACGCTGTTAGTTAAAAACTCTGCAAACTTCTCATTTGAGTCTAAAAGATTGCCAGAGCTGCATTTATTAGATAGGACCAAAAG... | TTGGTCAGCCAGGCTTGGACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGGAAGCCTAAAGTCCCAAAATAGGGTAAGTAATGTTAGTTTATCTTGTGATATGGAATTTAACTAATTAATAGATAGGTAAAGTTTTCCAGTCTTTCTAATTCTCCATATAGTTGAATTGTACTAGAAAATTTTTCATTGTATAAATTTGCTGCCTATGTGCTTAAACGCTGTTAGTTAAAAACTCTGCAAACTTCTCATTTGAGTCTAAAAGATTGCCAGAGCTGCATTTATTAGATAGGACCAAAAG... | pathogenic | 229,811 |
Regarding the variant found on chromosome 15 at position 39953947 in gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_pulmonary_capillary_hemangiomatosis'] | ATCTTAACTGCTTACCTATACTACGTTCTATTTGTCAATGATCTGTTCAACTCATCTGTTTTTTCTTGAATCTCTACCACACTCTTTGAATTATTGTATCTTTATAATGCTTTAATATCTGACAAGTCAATCCTACCCCTCCCCATCCCTTCATCTTCCATTGTTTTTGTTTCTCAGCCATTCTCACCCATTTATTCTTACAGAAGATGTACAGAATTACTTTCCCATAGTCAAAACAAAACAAACATCCTGGGATTTTTATTGATTTTAAAAAATCTTACATATTTATTTAGGAAGAATTGATATCTTCACAGTATTTA... | ATCTTAACTGCTTACCTATACTACGTTCTATTTGTCAATGATCTGTTCAACTCATCTGTTTTTTCTTGAATCTCTACCACACTCTTTGAATTATTGTATCTTTATAATGCTTTAATATCTGACAAGTCAATCCTACCCCTCCCCATCCCTTCATCTTCCATTGTTTTTGTTTCTCAGCCATTCTCACCCATTTATTCTTACAGAAGATGTACAGAATTACTTTCCCATAGTCAAAACAAAACAAACATCCTGGGATTTTTATTGATTTTAAAAAATCTTACATATTTATTTAGGAAGAATTGATATCTTCACAGTATTTA... | pathogenic | 229,881 |
Regarding the variant at chromosome 15 and position 39967716, affecting gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_pulmonary_capillary_hemangiomatosis'] | TTTCTGTTTAATGTGCAGGCAGTGATGAACAACTTGGAAAATTAGTCTACAATGCTTTGGAAACAGCCACTGGTGGCTTTGTCTTGTTGTATGAGTGGGTCCTTCAGTGGCAGAAAAAAATGGGTCCATTCCTTACCAGTCAAGAAAAAGAGAAGATTGATAAGTGCAAAAAGCAGGTAAGCATCCAAGGTGGCTGACTGAGCAAAAGGCCTAATCTCAGGCTTTAGGAGATGACAGAACAAAATAGCCCTGCATTTGTTTGCCCTGCAGAGATGGTCCAGAGCAGTATGAGAACTGTTTGACCAGGGAGGACAGTGAAG... | TTTCTGTTTAATGTGCAGGCAGTGATGAACAACTTGGAAAATTAGTCTACAATGCTTTGGAAACAGCCACTGGTGGCTTTGTCTTGTTGTATGAGTGGGTCCTTCAGTGGCAGAAAAAAATGGGTCCATTCCTTACCAGTCAAGAAAAAGAGAAGATTGATAAGTGCAAAAAGCAGGTAAGCATCCAAGGTGGCTGACTGAGCAAAAGGCCTAATCTCAGGCTTTAGGAGATGACAGAACAAAATAGCCCTGCATTTGTTTGCCCTGCAGAGATGGTCCAGAGCAGTATGAGAACTGTTTGACCAGGGAGGACAGTGAAG... | pathogenic | 229,889 |
Clinically, how would you classify the variant at chromosome 15, position 39976797, gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AACAAAAACATCTGAGTAACTTAAGCCCCCACGGTTTCCAGTAGTTTCTCCCTGTGAGAATCCACAGCCCTCACCTCCTACCTCTGTGCTTCTGTGTCAGAGTAGGGCAGCCTGCCCAGTGATCTGGCATTCATTAGCAGTTGGACCCATTACTGTTTCTGCACCTTTTCACTTCAGTAAATGAATTCCTAGGGGTTTCCAGTATAGCAAGCTTTACTCCCAACCCAGTTCGTATATGATGTGTACTGAGACAGGAGATCGAAAGGCAATGCCAAGATCCCCACCTCCCGCCCTACACTGTCCTCTTCCCTATTAATGTG... | AACAAAAACATCTGAGTAACTTAAGCCCCCACGGTTTCCAGTAGTTTCTCCCTGTGAGAATCCACAGCCCTCACCTCCTACCTCTGTGCTTCTGTGTCAGAGTAGGGCAGCCTGCCCAGTGATCTGGCATTCATTAGCAGTTGGACCCATTACTGTTTCTGCACCTTTTCACTTCAGTAAATGAATTCCTAGGGGTTTCCAGTATAGCAAGCTTTACTCCCAACCCAGTTCGTATATGATGTGTACTGAGACAGGAGATCGAAAGGCAATGCCAAGATCCCCACCTCCCGCCCTACACTGTCCTCTTCCCTATTAATGTG... | benign | 229,901 |
Is the genetic variant on chromosome 15, position 40006999, gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCACGTATCCAGCCAACTGTGGATGGAAAATACTCAGAAAAAAAAATTCCAACAAGCAAAATTTGAATTTACCATGTGCTAAACACTGCATTGAATCCACACAAAAGAAGGGATGTATAGGCATAGTAGTAGATATTATAAGTAATCTAAAGATGATTTAAAGTGTACAGGAGGATGCGCATAGGCTATAGGCAAATGCTCTGTCATTTTATATCAGGAACTTAACCATCCACTGATTTTGGTATCCTTGGGGGAGTCCCGGAACCAATTTCTGAGGGACAACTATACATATTTAGATATAGCCATATTTATACTTGATT... | CCACGTATCCAGCCAACTGTGGATGGAAAATACTCAGAAAAAAAAATTCCAACAAGCAAAATTTGAATTTACCATGTGCTAAACACTGCATTGAATCCACACAAAAGAAGGGATGTATAGGCATAGTAGTAGATATTATAAGTAATCTAAAGATGATTTAAAGTGTACAGGAGGATGCGCATAGGCTATAGGCAAATGCTCTGTCATTTTATATCAGGAACTTAACCATCCACTGATTTTGGTATCCTTGGGGGAGTCCCGGAACCAATTTCTGAGGGACAACTATACATATTTAGATATAGCCATATTTATACTTGATT... | benign | 229,923 |
Variant on chromosome 15, at position 40020929, affecting EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_pulmonary_capillary_hemangiomatosis'] | AACAGTGCAGAGTTAGATGAAACATTTGTTAATATTTTTTCTAAATTTGCATGTGTGCTTGCTTCTCTATTTTACTACACACACACATTTCTTTTTGTTGAACTCTTTGATGATGAGCTGCTGACAGAGTGCTCACTCTTTAATCATTGTTTTCCCCGTAATCACAGTTTCTTTCCTATTTCATAACCATAACTGTTTGTGTCTCTCCACAGATTCCCCAGTTTAGAGGGCCACAAGCTCTGGGGCCAGTTCCCACTGCCATTGGGGTCAGCATAGCTATAGACAAGATATCTGCTGCTGTCCTCAACATGGAGGAATCT... | AACAGTGCAGAGTTAGATGAAACATTTGTTAATATTTTTTCTAAATTTGCATGTGTGCTTGCTTCTCTATTTTACTACACACACACATTTCTTTTTGTTGAACTCTTTGATGATGAGCTGCTGACAGAGTGCTCACTCTTTAATCATTGTTTTCCCCGTAATCACAGTTTCTTTCCTATTTCATAACCATAACTGTTTGTGTCTCTCCACAGATTCCCCAGTTTAGAGGGCCACAAGCTCTGGGGCCAGTTCCCACTGCCATTGGGGTCAGCATAGCTATAGACAAGATATCTGCTGCTGTCCTCAACATGGAGGAATCT... | pathogenic | 229,938 |
Clinical classification of chromosome 15, position 40035006, gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4): benign or pathogenic? Disease(s) if pathogenic? | benign | TCCTAAATCCTATGTTGAAGGACTCATACTTTTCTAGTGACTTTATTTTTCAGATACTTATTTTATTAAAAACAAAAAACAAAAACAAAAAAACACATATACTGCTTTTACTATGTGTCAGGGTCTGGCAGGCCTTGTTGTAAGCATTTTACAAGTAGTAACTCATTTAATCATTACCACCCCAAAATGTAGATACTGTTATTATCCCTTTACAGAGTACGGAAGTAGAGAGGTTAAATATCTTACCCACAGTCACCCAGCTAGTAAGTAGTAGAACCAGGATTTGAACCTAAGCAGACTAGCAGAATCGGTGTTCTTAA... | TCCTAAATCCTATGTTGAAGGACTCATACTTTTCTAGTGACTTTATTTTTCAGATACTTATTTTATTAAAAACAAAAAACAAAAACAAAAAAACACATATACTGCTTTTACTATGTGTCAGGGTCTGGCAGGCCTTGTTGTAAGCATTTTACAAGTAGTAACTCATTTAATCATTACCACCCCAAAATGTAGATACTGTTATTATCCCTTTACAGAGTACGGAAGTAGAGAGGTTAAATATCTTACCCACAGTCACCCAGCTAGTAAGTAGTAGAACCAGGATTTGAACCTAAGCAGACTAGCAGAATCGGTGTTCTTAA... | benign | 229,956 |
Gene mutation in BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B) at chromosome 15, position 40165037—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGCGGGGCTGCTGTGTATGTGGAGTTTTCATGTTTTCCGCATGTCTGCATGGGTTTCCTTAGGTACTCCAGTTTCCTTCTACATCCCAAAGATGTGCCTGTTAATTGGCGTGTCTAAATGATCCCAGTCTGAATGGGTGTGAATGTGATGCTCCCTGTGATGGAGTGGTGTCCTGTCCAGGGTTGGTTCCTCTCTGAGTTGCTGAGATGGGCTCTGGCCACCCTCAACCCCGAACTAGAATAAGTGAGTTGGAAAATGAATGAAGGAATGAATACAAATTACTGTAAAATAAAAATCTGTAAAGGCTGGGAGCGGTGGCT... | TGCGGGGCTGCTGTGTATGTGGAGTTTTCATGTTTTCCGCATGTCTGCATGGGTTTCCTTAGGTACTCCAGTTTCCTTCTACATCCCAAAGATGTGCCTGTTAATTGGCGTGTCTAAATGATCCCAGTCTGAATGGGTGTGAATGTGATGCTCCCTGTGATGGAGTGGTGTCCTGTCCAGGGTTGGTTCCTCTCTGAGTTGCTGAGATGGGCTCTGGCCACCCTCAACCCCGAACTAGAATAAGTGAGTTGGAAAATGAATGAAGGAATGAATACAAATTACTGTAAAATAAAAATCTGTAAAGGCTGGGAGCGGTGGCT... | benign | 229,975 |
Chromosome 15, position 40170539, gene BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer', 'Mosaic_variegated_aneuploidy_syndrome_1', 'Premature_chromatid_separation_trait'] | TTGTTTTACCATTTCTGCAGATAATCTCATTATTTCACACTTTAATTGCCATATTAGCCTCATAACTGTGGTCCCTTCTTCTAATGCCTGGCTATCCTTATAAAGTTGCTTGATTAATCTTTCTGAAATCTTATATTTAAGATGCCCTCCAATTAAAGAACCAATAGTGGCTGGAGTAGATGGAATCCAAAGTCTTTAAATTTACATTTAAAGCATGTGCTTCTTACTTCTCCAGGGGTCTCCATTTGCTCTCGGTACTGACTTTATGTTATAGCTTAGGGTTCACTCACCTTCCTTTGGATGAGCTCTTCCACCTTCGT... | TTGTTTTACCATTTCTGCAGATAATCTCATTATTTCACACTTTAATTGCCATATTAGCCTCATAACTGTGGTCCCTTCTTCTAATGCCTGGCTATCCTTATAAAGTTGCTTGATTAATCTTTCTGAAATCTTATATTTAAGATGCCCTCCAATTAAAGAACCAATAGTGGCTGGAGTAGATGGAATCCAAAGTCTTTAAATTTACATTTAAAGCATGTGCTTCTTACTTCTCCAGGGGTCTCCATTTGCTCTCGGTACTGACTTTATGTTATAGCTTAGGGTTCACTCACCTTCCTTTGGATGAGCTCTTCCACCTTCGT... | pathogenic | 229,988 |
The mutation in gene BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B) at chromosome 15, position 40210151—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GAATGAGATCCTGTCTCAAAAATAAAATGAAAAGTAAAAAAAAAAAATGAGGCTATCAAATAAATTGATAACAAATTATAAATTATTTAAACCTAAATTTTATTGTGTTAAAAAATAAAAGAATAACATAAAATTATAAAATGTGTACATTAAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCTGAGACGGGTGGACCATCTGAAGTCAGGAGTTCAAGACCAGTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGTGCCTGTAATCCC... | GAATGAGATCCTGTCTCAAAAATAAAATGAAAAGTAAAAAAAAAAAATGAGGCTATCAAATAAATTGATAACAAATTATAAATTATTTAAACCTAAATTTTATTGTGTTAAAAAATAAAAGAATAACATAAAATTATAAAATGTGTACATTAAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCTGAGACGGGTGGACCATCTGAAGTCAGGAGTTCAAGACCAGTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGTGCCTGTAATCCC... | pathogenic | 230,099 |
Assess the variant on chromosome 15, position 40210185, impacting BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Mosaic_variegated_aneuploidy_syndrome_1'] | TAAAAAAAAAAAATGAGGCTATCAAATAAATTGATAACAAATTATAAATTATTTAAACCTAAATTTTATTGTGTTAAAAAATAAAAGAATAACATAAAATTATAAAATGTGTACATTAAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCTGAGACGGGTGGACCATCTGAAGTCAGGAGTTCAAGACCAGTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTT... | TAAAAAAAAAAAATGAGGCTATCAAATAAATTGATAACAAATTATAAATTATTTAAACCTAAATTTTATTGTGTTAAAAAATAAAAGAATAACATAAAATTATAAAATGTGTACATTAAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCTGAGACGGGTGGACCATCTGAAGTCAGGAGTTCAAGACCAGTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTT... | pathogenic | 230,103 |
Evaluate this variant at chromosome 15, position 40218473, gene BUB1B: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Mosaic_variegated_aneuploidy_syndrome_1'] | TGTAGACCTTGTCTAAGAAACCAAACAAAACACACACATGCACACACTTTACATATATATATAAAATACATATGTATATTTTATATATATCAGAATCCACGATCCCTATAACTATATATATACTATATATATATATATATATATATATTTTTTTTTTTTTTTAATTATAGTATAGTTTTATGGTGGCCAAAAAAGGTTGGCTCTTGTGCCAAGGAAAAATGAGAGCAATTATCAATTTTAAAGTAAAATACATAGATCATTCTGTGCCGTGGAGGTATGTAATTGGAGTAGTTAAAGACTGTATTTAGGAATATTGCACC... | TGTAGACCTTGTCTAAGAAACCAAACAAAACACACACATGCACACACTTTACATATATATATAAAATACATATGTATATTTTATATATATCAGAATCCACGATCCCTATAACTATATATATACTATATATATATATATATATATATATTTTTTTTTTTTTTTAATTATAGTATAGTTTTATGGTGGCCAAAAAAGGTTGGCTCTTGTGCCAAGGAAAAATGAGAGCAATTATCAATTTTAAAGTAAAATACATAGATCATTCTGTGCCGTGGAGGTATGTAATTGGAGTAGTTAAAGACTGTATTTAGGAATATTGCACC... | pathogenic | 230,137 |
Clinical classification of chromosome 15, position 40405928, gene IVD (isovaleryl-CoA dehydrogenase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | TTTATTCCTCATAGTAGCCTTAAAGTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAA... | TTTATTCCTCATAGTAGCCTTAAAGTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAA... | pathogenic | 230,163 |
Considering the genetic mutation at chromosome 15, position 40408004, impacting IVD (isovaleryl-CoA dehydrogenase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CGAGGAGCAGAGGCAGGTGAGGAGACTGACCCCCTTCCTGGCCCCAAGGCCTCCTTCCTGCCTGGTCCCCAAGGCCTCCTTCCTGCCTGGTCCCCATCGGCCCAGCGCCCACCCAGCCTTGGCTTTTGCCCGTGGGCCGTTGGGAGCGCCAGCGCGGGGGCGGGACGCGGGGCCTCCGACCTCGGGTCCAGTCCTCTGACCTCGGCCTCACGTCTGTGGAGTGAAGATTTGAGACCGTGGGACAGTACTGCTGGAAGTAGAGAGGAGGAGTCGAGGCTGGGAGAGCTCCTGAGAGACTGATGGTGTTTTGGTGGAGGATT... | CGAGGAGCAGAGGCAGGTGAGGAGACTGACCCCCTTCCTGGCCCCAAGGCCTCCTTCCTGCCTGGTCCCCAAGGCCTCCTTCCTGCCTGGTCCCCATCGGCCCAGCGCCCACCCAGCCTTGGCTTTTGCCCGTGGGCCGTTGGGAGCGCCAGCGCGGGGGCGGGACGCGGGGCCTCCGACCTCGGGTCCAGTCCTCTGACCTCGGCCTCACGTCTGTGGAGTGAAGATTTGAGACCGTGGGACAGTACTGCTGGAAGTAGAGAGGAGGAGTCGAGGCTGGGAGAGCTCCTGAGAGACTGATGGTGTTTTGGTGGAGGATT... | benign | 230,184 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 40410721, gene IVD (isovaleryl-CoA dehydrogenase): what disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Isovaleryl-CoA_dehydrogenase_deficiency'] | AGGCGTGGTTGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGCGGTCGTGAGTTCGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCTGGTCATGGTGGTACATCCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACGGAGCGAAACTCCGTTTCAAAAAAAAAAGCCCAGCCTGCTTGGGCCTGTATTCACTCTGGG... | AGGCGTGGTTGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGCGGTCGTGAGTTCGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCTGGTCATGGTGGTACATCCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACGGAGCGAAACTCCGTTTCAAAAAAAAAAGCCCAGCCTGCTTGGGCCTGTATTCACTCTGGG... | pathogenic | 230,190 |
Is the genetic variant on chromosome 15, position 40410737, gene IVD (isovaleryl-CoA dehydrogenase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGCGGTCGTGAGTTCGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCTGGTCATGGTGGTACATCCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACGGAGCGAAACTCCGTTTCAAAAAAAAAAGCCCAGCCTGCTTGGGCCTGTATTCACTCTGGGCATGAGAGTATGAGTG... | ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGCGGTCGTGAGTTCGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATACAAAATTAGCTGGTCATGGTGGTACATCCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACGGAGCGAAACTCCGTTTCAAAAAAAAAAGCCCAGCCTGCTTGGGCCTGTATTCACTCTGGGCATGAGAGTATGAGTG... | pathogenic | 230,191 |
The mutation in gene IVD (isovaleryl-CoA dehydrogenase) at chromosome 15, position 40411257—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | TTGTATTTTACGGAAGAAAGAGGCAGTTAGAAATCAGATGAAAATGGCCAGGTGTGGTAGTGGGCTCCTATAATCCGAGTGACTCGGGAGGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATGGTTACACCATTGCACCCCAGCCTGGATAAGAGAGTGAGAGCCCGCCTCTTGAAAAAAAAAAAGAAAAGAAATCAGATGAAAACTCTTTCAAGGGAACCTGAAAAAGAAAGCTGGTTACAAGTTCTGGTTTCTGCATGATGTCATGGTGGCTGTTTCTAATGTCACCTGCCTTCAGG... | TTGTATTTTACGGAAGAAAGAGGCAGTTAGAAATCAGATGAAAATGGCCAGGTGTGGTAGTGGGCTCCTATAATCCGAGTGACTCGGGAGGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATGGTTACACCATTGCACCCCAGCCTGGATAAGAGAGTGAGAGCCCGCCTCTTGAAAAAAAAAAAGAAAAGAAATCAGATGAAAACTCTTTCAAGGGAACCTGAAAAAGAAAGCTGGTTACAAGTTCTGGTTTCTGCATGATGTCATGGTGGCTGTTTCTAATGTCACCTGCCTTCAGG... | pathogenic | 230,196 |
Considering the genetic mutation at chromosome 15, position 40411300, impacting IVD (isovaleryl-CoA dehydrogenase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | ATGGCCAGGTGTGGTAGTGGGCTCCTATAATCCGAGTGACTCGGGAGGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATGGTTACACCATTGCACCCCAGCCTGGATAAGAGAGTGAGAGCCCGCCTCTTGAAAAAAAAAAAGAAAAGAAATCAGATGAAAACTCTTTCAAGGGAACCTGAAAAAGAAAGCTGGTTACAAGTTCTGGTTTCTGCATGATGTCATGGTGGCTGTTTCTAATGTCACCTGCCTTCAGGCTTTCCTTCCTGCAGTTGTAGGGGCAGGTCAAGGTTTCCTTAG... | ATGGCCAGGTGTGGTAGTGGGCTCCTATAATCCGAGTGACTCGGGAGGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATGGTTACACCATTGCACCCCAGCCTGGATAAGAGAGTGAGAGCCCGCCTCTTGAAAAAAAAAAAGAAAAGAAATCAGATGAAAACTCTTTCAAGGGAACCTGAAAAAGAAAGCTGGTTACAAGTTCTGGTTTCTGCATGATGTCATGGTGGCTGTTTCTAATGTCACCTGCCTTCAGGCTTTCCTTCCTGCAGTTGTAGGGGCAGGTCAAGGTTTCCTTAG... | pathogenic | 230,200 |
Chromosome 15, position 40411309, gene IVD (isovaleryl-CoA dehydrogenase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | TGTGGTAGTGGGCTCCTATAATCCGAGTGACTCGGGAGGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATGGTTACACCATTGCACCCCAGCCTGGATAAGAGAGTGAGAGCCCGCCTCTTGAAAAAAAAAAAGAAAAGAAATCAGATGAAAACTCTTTCAAGGGAACCTGAAAAAGAAAGCTGGTTACAAGTTCTGGTTTCTGCATGATGTCATGGTGGCTGTTTCTAATGTCACCTGCCTTCAGGCTTTCCTTCCTGCAGTTGTAGGGGCAGGTCAAGGTTTCCTTAGAGCCTAGAA... | TGTGGTAGTGGGCTCCTATAATCCGAGTGACTCGGGAGGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATGGTTACACCATTGCACCCCAGCCTGGATAAGAGAGTGAGAGCCCGCCTCTTGAAAAAAAAAAAGAAAAGAAATCAGATGAAAACTCTTTCAAGGGAACCTGAAAAAGAAAGCTGGTTACAAGTTCTGGTTTCTGCATGATGTCATGGTGGCTGTTTCTAATGTCACCTGCCTTCAGGCTTTCCTTCCTGCAGTTGTAGGGGCAGGTCAAGGTTTCCTTAGAGCCTAGAA... | pathogenic | 230,201 |
For chromosome 15, position 40411600, gene IVD (isovaleryl-CoA dehydrogenase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | GCAGGTCAAGGTTTCCTTAGAGCCTAGAACGAGCCTGACTTATTGGTCAGAGTGAACATGTGTATAGGACCTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTC... | GCAGGTCAAGGTTTCCTTAGAGCCTAGAACGAGCCTGACTTATTGGTCAGAGTGAACATGTGTATAGGACCTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTC... | pathogenic | 230,206 |
Gene mutation in IVD (isovaleryl-CoA dehydrogenase) at chromosome 15, position 40411620—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | AGCCTAGAACGAGCCTGACTTATTGGTCAGAGTGAACATGTGTATAGGACCTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAGTGC... | AGCCTAGAACGAGCCTGACTTATTGGTCAGAGTGAACATGTGTATAGGACCTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAGTGC... | pathogenic | 230,207 |
Evaluate the clinical significance of the mutation at chromosome 15, position 40411636 in gene IVD (isovaleryl-CoA dehydrogenase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | GACTTATTGGTCAGAGTGAACATGTGTATAGGACCTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG... | GACTTATTGGTCAGAGTGAACATGTGTATAGGACCTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG... | pathogenic | 230,209 |
Mutation at chromosome 15, position 40411652, within IVD (isovaleryl-CoA dehydrogenase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | TGAACATGTGTATAGGACCTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCTCTGCAAGCTCCA... | TGAACATGTGTATAGGACCTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCTCTGCAAGCTCCA... | pathogenic | 230,210 |
Chromosome 15, position 40411670, gene IVD (isovaleryl-CoA dehydrogenase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | CTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCTCTGCAAGCTCCACCTGCCAGGTTCACACCA... | CTTGCTAGGCTTGACCCAATCAGCAGGGCTGGGGGTGGTATCAGGTGTCTCAGCCACTTGGAGTTTGGATCTGCTGCCAAGGAAAAACCGTATATTTTATGAGGAGTTCTGAAATTCTCTGCCAGCATCTCATCTGCCCTCTGCTGTACAGCTCACCTCAAGATTTTCCCTGAGGCTGTGGCTCTCCTGTCCTGTCACCAGTCCTGCTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCTCTGCAAGCTCCACCTGCCAGGTTCACACCA... | pathogenic | 230,211 |
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