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 |
|---|---|---|---|---|---|
Clinical significance of chromosome 12, position 47985585, gene COL2A1 (collagen type II alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | AGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCA... | AGCAGTGACAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCA... | pathogenic | 195,693 |
A mutation at chromosome position 47985719 on chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTC... | CCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTC... | benign | 195,696 |
Gene COL2A1 (collagen type II alpha 1 chain) variant at chromosome 12, position 47985725—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Kniest_dysplasia'] | ACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCT... | ACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCT... | pathogenic | 195,697 |
Clinical significance of chromosome 12, position 47986344, gene COL2A1 (collagen type II alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | CAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGG... | CAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGG... | pathogenic | 195,715 |
Variant in COL2A1 (collagen type II alpha 1 chain), chromosome 12, position 47987249—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAG... | ACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAG... | benign | 195,735 |
Gene mutation in COL2A1 (collagen type II alpha 1 chain) at chromosome 12, position 47992871—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | CCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGC... | CCAGGGAACTCTTTACCGAAACTCTGGGGGCCACAGGCTGGGTGGAGCTGGGCCTAGGGCCTGACTGAGCAGGTCAGGGGGGTACCTTTTCCTGCTGAGTCCTGCCTGTCAGTCTCTGCCTCTCCTTAGAAGCTAAAGAAGGATGCTTTAGGGGGAGCTCGTGTTTTAAATACAACTCAACTCTTCTTCCTGGCTGGGGTCCATTTCTCCTAACGGAGACTCTCCAGATTGGCATTTAAGAGGAAAGCAAGAGAAAACTTAGAAAAAATGTCAGCAGGAACATAAAGCTTCAGGATTGGCCACAGCCCCTCTGGGCTGGC... | pathogenic | 195,759 |
A genetic variant on chromosome 12, position 47993799, affects the gene COL2A1 (collagen type II alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Kniest_dysplasia'] | GCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATG... | GCCACCGCAGCTCTGAGCCTCGCTAAAAGGCCACAAGCCAGCATCCTGCTAATCTGTAGAAACGGCAGTGTTTCTTGGCAGCCCCAGTGCTCTCTAATCCCCTCACACAAAGTGACCCTGGGGCAAGGCACTTCAGCAGCTCTGGCTGACAAAGGGGGGTCGAGGCTTCTGCTTATTTCACTGATCTGCCTTTGAGGGAAACTTCTGCCAAACAGACACATTAGCTGGAAAGCAGCACAACGGAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATG... | pathogenic | 195,768 |
The genetic variant at chromosome 12, position 47995311, affecting gene COL2A1 (collagen type II alpha 1 chain): benign or pathogenic? Disease name(s) if pathogenic? | benign | TGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGC... | TGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGC... | benign | 195,790 |
Variant at chromosome 12, position 47995911, gene COL2A1 (collagen type II alpha 1 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Stickler_syndrome_type_1'] | CTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTT... | CTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTT... | pathogenic | 195,804 |
Variant at chromosome 12, position 47997617, gene COL2A1 (collagen type II alpha 1 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | GGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAG... | GGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAG... | pathogenic | 195,817 |
The mutation impacting COL2A1 (collagen type II alpha 1 chain) on chromosome 12 at position 47997626: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | ATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAG... | ATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAG... | pathogenic | 195,818 |
Is the genetic variant on chromosome 12, position 47997645, gene COL2A1 (collagen type II alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Achondrogenesis_type_II', 'Stickler_syndrome_type_1'] | CACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGG... | CACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGG... | pathogenic | 195,821 |
Is chromosome 12, position 47997645, gene COL2A1 (collagen type II alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Stickler_syndrome_type_1'] | CACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGG... | CACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGG... | pathogenic | 195,822 |
Mutation at chromosome 12, position 47997893, within COL2A1 (collagen type II alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | ATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAG... | ATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAG... | pathogenic | 195,824 |
Is the genetic mutation found on chromosome 12 at position 48134974, within the gene PFKM (phosphofructokinase, muscle), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_VII'] | TCCGAGCTGCCTACAACCTGGTGAAGCGTGGGATCACCAATCTCTGTGTCATTGGGGGTGATGGCAGCCTCACTGGGGCTGACACCTTCCGTTCTGAGTGGAGTGACTTGTTGAGTGACCTCCAGAAAGCAGGTAAGAGAGTTTTCACATCAGTATTGCTTATTTGTGTCGGTACGTGCACGCGTGTACACACACACATCGCCCCCGCCCTGCTTTTACCTCCCATTGGAGAAAAATGTTACCCAGACACAAATAGGCAGTCTTTGCCCTCCTTTTTCTGGTATTGTCTACAATTCCTTTTGGCTAGAGTTTCTCTCTCT... | TCCGAGCTGCCTACAACCTGGTGAAGCGTGGGATCACCAATCTCTGTGTCATTGGGGGTGATGGCAGCCTCACTGGGGCTGACACCTTCCGTTCTGAGTGGAGTGACTTGTTGAGTGACCTCCAGAAAGCAGGTAAGAGAGTTTTCACATCAGTATTGCTTATTTGTGTCGGTACGTGCACGCGTGTACACACACACATCGCCCCCGCCCTGCTTTTACCTCCCATTGGAGAAAAATGTTACCCAGACACAAATAGGCAGTCTTTGCCCTCCTTTTTCTGGTATTGTCTACAATTCCTTTTGGCTAGAGTTTCTCTCTCT... | pathogenic | 195,915 |
Variant in PFKM (phosphofructokinase, muscle), chromosome 12, position 48140864—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_VII'] | AGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAAAATACCAAAAAAATTAGCCGGGTGTGGTTGCACACGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGGGGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAAATAAACAGAGCATAGAATCAGTTCTTTTCTTTTGCTGCTCATTACTTAGACAACTCAGGAAAAACAAAAATACTTCCATGA... | AGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAAAATACCAAAAAAATTAGCCGGGTGTGGTTGCACACGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGGGGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAAATAAACAGAGCATAGAATCAGTTCTTTTCTTTTGCTGCTCATTACTTAGACAACTCAGGAAAAACAAAAATACTTCCATGA... | pathogenic | 195,935 |
Variant chromosome 12, position 48141784, gene PFKM (phosphofructokinase, muscle): benign or pathogenic? Disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_VII'] | GGTTTGCCCTATGGAACTTCCCTCTGGGAGCAACACTTCAGACCAGGATCTCCATGGCTGCTGGCTGTGGGGAATGGCCTGAAGACACCTCTCTCTATTTGTACTTCCTACAGGAGCTTCATGAACAACTGGGAGGTGTACAAGCTTCTAGCTCATGTCAGACCCCCGGTATCTAAGGTACTGGCAAGTTGACTTGCCCTCTCCCCTTTTCCTTCTCCCTCCCCCAGTCTCTCTTCATAAATGCTACCACAGTCCATACAACATAAGCCTTGCCAACTTCTCTGCCCCACTCTGATCTTCAGTGCTGGGTCCCTGGCCCT... | GGTTTGCCCTATGGAACTTCCCTCTGGGAGCAACACTTCAGACCAGGATCTCCATGGCTGCTGGCTGTGGGGAATGGCCTGAAGACACCTCTCTCTATTTGTACTTCCTACAGGAGCTTCATGAACAACTGGGAGGTGTACAAGCTTCTAGCTCATGTCAGACCCCCGGTATCTAAGGTACTGGCAAGTTGACTTGCCCTCTCCCCTTTTCCTTCTCCCTCCCCCAGTCTCTCTTCATAAATGCTACCACAGTCCATACAACATAAGCCTTGCCAACTTCTCTGCCCCACTCTGATCTTCAGTGCTGGGTCCCTGGCCCT... | pathogenic | 195,947 |
Does the chromosome 12 mutation at position 48141911 within gene PFKM (phosphofructokinase, muscle) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glycogen_storage_disease,_type_VII'] | ACTGGGAGGTGTACAAGCTTCTAGCTCATGTCAGACCCCCGGTATCTAAGGTACTGGCAAGTTGACTTGCCCTCTCCCCTTTTCCTTCTCCCTCCCCCAGTCTCTCTTCATAAATGCTACCACAGTCCATACAACATAAGCCTTGCCAACTTCTCTGCCCCACTCTGATCTTCAGTGCTGGGTCCCTGGCCCTATTATAATGATTTCCTCTTAACCACCCCAGATACCAGAGCCCCCTTCTTAGTGTACCCTGGATATCTCTAACACAAGACCCATGCCCACTTCAGGACTGGCAAGATAGCATGCAAAGAATGGGAAAG... | ACTGGGAGGTGTACAAGCTTCTAGCTCATGTCAGACCCCCGGTATCTAAGGTACTGGCAAGTTGACTTGCCCTCTCCCCTTTTCCTTCTCCCTCCCCCAGTCTCTCTTCATAAATGCTACCACAGTCCATACAACATAAGCCTTGCCAACTTCTCTGCCCCACTCTGATCTTCAGTGCTGGGTCCCTGGCCCTATTATAATGATTTCCTCTTAACCACCCCAGATACCAGAGCCCCCTTCTTAGTGTACCCTGGATATCTCTAACACAAGACCCATGCCCACTTCAGGACTGGCAAGATAGCATGCAAAGAATGGGAAAG... | pathogenic | 195,952 |
Variant in PFKM (phosphofructokinase, muscle), chromosome 12, position 48142019—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_VII'] | CATAAATGCTACCACAGTCCATACAACATAAGCCTTGCCAACTTCTCTGCCCCACTCTGATCTTCAGTGCTGGGTCCCTGGCCCTATTATAATGATTTCCTCTTAACCACCCCAGATACCAGAGCCCCCTTCTTAGTGTACCCTGGATATCTCTAACACAAGACCCATGCCCACTTCAGGACTGGCAAGATAGCATGCAAAGAATGGGAAAGAGGGCTTATGTACTTTTTCTCTGGGAAAATATGGGAATAATCACATCTAAGTGTATCTAAGCCACTTCTTCCACTGGAGTAGTGGTTCTCAATATTAAGTATATATCA... | CATAAATGCTACCACAGTCCATACAACATAAGCCTTGCCAACTTCTCTGCCCCACTCTGATCTTCAGTGCTGGGTCCCTGGCCCTATTATAATGATTTCCTCTTAACCACCCCAGATACCAGAGCCCCCTTCTTAGTGTACCCTGGATATCTCTAACACAAGACCCATGCCCACTTCAGGACTGGCAAGATAGCATGCAAAGAATGGGAAAGAGGGCTTATGTACTTTTTCTCTGGGAAAATATGGGAATAATCACATCTAAGTGTATCTAAGCCACTTCTTCCACTGGAGTAGTGGTTCTCAATATTAAGTATATATCA... | pathogenic | 195,953 |
Variant at chromosome 12, position 48143809, gene PFKM (phosphofructokinase, muscle): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease,_type_VII'] | TGAACAGATCAGTGCCAATATAACTAAGTTTAACATTCAGGGCCTTGTCATCATTGGGGGCTTTGAGGTGAGTGCCTGCCACCATTTCTTCCTCTCTCCCTCCTACCTCCTCTCCCTCTCCCCAATCCTGCCCTTGTGCTCTCTTCTTCTTAGGCTTACACAGGGGGCCTGGAACTGATGGAGGGCAGGAAGCAGTTTGATGAGCTCTGCATCCCATTTGTGGTCATTCCTGCTACAGTCTCCAACAATGTCCCTGGCTCAGACTTCAGCGTTGGGGCTGACACAGCACTCAATACTATCTGCACAGTGAGAGCCTATCA... | TGAACAGATCAGTGCCAATATAACTAAGTTTAACATTCAGGGCCTTGTCATCATTGGGGGCTTTGAGGTGAGTGCCTGCCACCATTTCTTCCTCTCTCCCTCCTACCTCCTCTCCCTCTCCCCAATCCTGCCCTTGTGCTCTCTTCTTCTTAGGCTTACACAGGGGGCCTGGAACTGATGGAGGGCAGGAAGCAGTTTGATGAGCTCTGCATCCCATTTGTGGTCATTCCTGCTACAGTCTCCAACAATGTCCCTGGCTCAGACTTCAGCGTTGGGGCTGACACAGCACTCAATACTATCTGCACAGTGAGAGCCTATCA... | pathogenic | 195,960 |
Variant on chromosome 12, at position 48145038, affecting PFKM (phosphofructokinase, muscle): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease', 'Glycogen_storage_disease,_type_VII'] | CCAGACTGTTTCCACAGTGATCTGAACTATGAGAGCTCAAGTTGAGGACCGAGCTGATTGGTCTGTAGAATCCTGTGAAGACCAGAAAGAGCACTATGCAGGCATTCTCTGGTGTCACCTCATATGCATGACCGCAGCTACTGTTGTTGGAATGCTGATTTTGAGTCAGGCGACCTGGTGCTAAGCCCTTTATGGGCATTTTTGCATTTTATCTTCACAATAGACATGCAAAGAAGATACTATCTCCATATAACATAGAAAGTTTAGAGAGGTTAAAAAACTTTTCTAAACTCCTAAGTGAGCAGATGGTTTAAGTGGTT... | CCAGACTGTTTCCACAGTGATCTGAACTATGAGAGCTCAAGTTGAGGACCGAGCTGATTGGTCTGTAGAATCCTGTGAAGACCAGAAAGAGCACTATGCAGGCATTCTCTGGTGTCACCTCATATGCATGACCGCAGCTACTGTTGTTGGAATGCTGATTTTGAGTCAGGCGACCTGGTGCTAAGCCCTTTATGGGCATTTTTGCATTTTATCTTCACAATAGACATGCAAAGAAGATACTATCTCCATATAACATAGAAAGTTTAGAGAGGTTAAAAAACTTTTCTAAACTCCTAAGTGAGCAGATGGTTTAAGTGGTT... | pathogenic | 195,967 |
Does the variant on chromosome 12 at location 48145113 affecting gene PFKM (phosphofructokinase, muscle) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_VII'] | TGAAGACCAGAAAGAGCACTATGCAGGCATTCTCTGGTGTCACCTCATATGCATGACCGCAGCTACTGTTGTTGGAATGCTGATTTTGAGTCAGGCGACCTGGTGCTAAGCCCTTTATGGGCATTTTTGCATTTTATCTTCACAATAGACATGCAAAGAAGATACTATCTCCATATAACATAGAAAGTTTAGAGAGGTTAAAAAACTTTTCTAAACTCCTAAGTGAGCAGATGGTTTAAGTGGTTGAGAAAGTCAGTGATCTTTTTACTACATCATGTCTCCCCTTCAGATTTCCCTTGCTGTCATTCTGCTTTTGAGAG... | TGAAGACCAGAAAGAGCACTATGCAGGCATTCTCTGGTGTCACCTCATATGCATGACCGCAGCTACTGTTGTTGGAATGCTGATTTTGAGTCAGGCGACCTGGTGCTAAGCCCTTTATGGGCATTTTTGCATTTTATCTTCACAATAGACATGCAAAGAAGATACTATCTCCATATAACATAGAAAGTTTAGAGAGGTTAAAAAACTTTTCTAAACTCCTAAGTGAGCAGATGGTTTAAGTGGTTGAGAAAGTCAGTGATCTTTTTACTACATCATGTCTCCCCTTCAGATTTCCCTTGCTGTCATTCTGCTTTTGAGAG... | pathogenic | 195,969 |
A mutation at chromosome position 48916992 on chromosome 12 in gene DRC2 (dynein regulatory complex subunit 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Primary_ciliary_dyskinesia_27'] | TGCCTCCCGGGTTCAAGCAATTTTCCTGCCTCAGTGTCCCCAGTAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCTATGTTATTGTTTTACTTTTTTAAATAACTTTTTTTTCTTCTTTTTAAATTTAACTCCTCAAATTCCTTTTACCAACTACCCACTTTCTTTCTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCACAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTC... | TGCCTCCCGGGTTCAAGCAATTTTCCTGCCTCAGTGTCCCCAGTAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCTATGTTATTGTTTTACTTTTTTAAATAACTTTTTTTTCTTCTTTTTAAATTTAACTCCTCAAATTCCTTTTACCAACTACCCACTTTCTTTCTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCACAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTC... | pathogenic | 196,016 |
Is the genetic change at chromosome 12, position 48918750, within gene DRC2 (dynein regulatory complex subunit 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_27'] | AGGGAACAGGGATGGGAGAGAGACTTCTCACTGTAACCTTTTGTACTTTTTTTGTATCACATGAATGTATTACCCATTCAGAAATCAAAATAAAATAACCTTACTCATTCTTTCTAGCCCTAAAAAGAGTAAAGCCTTCCCTCTCTCTTTTCTCCATCAGTACCTAAGAGTTTGTACCATTCACATAGATTACATACTGCTTTGAATTGTCATTATTGGTCAATATCCTGTATCCCTCAGAGCAGGGACAGTGTCTTGTCTCCTACAGGAAGACAATTATTGACCAACATGAGAAAGAGATTCACTATCTGCAAGATATC... | AGGGAACAGGGATGGGAGAGAGACTTCTCACTGTAACCTTTTGTACTTTTTTTGTATCACATGAATGTATTACCCATTCAGAAATCAAAATAAAATAACCTTACTCATTCTTTCTAGCCCTAAAAAGAGTAAAGCCTTCCCTCTCTCTTTTCTCCATCAGTACCTAAGAGTTTGTACCATTCACATAGATTACATACTGCTTTGAATTGTCATTATTGGTCAATATCCTGTATCCCTCAGAGCAGGGACAGTGTCTTGTCTCCTACAGGAAGACAATTATTGACCAACATGAGAAAGAGATTCACTATCTGCAAGATATC... | pathogenic | 196,020 |
Mutation at chromosome 12, position 48918910, within CCDC65 (dynein regulatory complex subunit 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TACCTAAGAGTTTGTACCATTCACATAGATTACATACTGCTTTGAATTGTCATTATTGGTCAATATCCTGTATCCCTCAGAGCAGGGACAGTGTCTTGTCTCCTACAGGAAGACAATTATTGACCAACATGAGAAAGAGATTCACTATCTGCAAGATATCTTCATGGCCATGGAGCAGAACTATATAGATTCTGAGTATGAAAGCAAGCTGGAGTTCCAGAGCATGTGGAATGATCTCAAAAACATGGTACGGAGGGAGAGTAGATAGGCAAGAAGTGGGAGGAGGTGATAGAAAAATGCTCAAGGAGGCTGGGCACAGT... | TACCTAAGAGTTTGTACCATTCACATAGATTACATACTGCTTTGAATTGTCATTATTGGTCAATATCCTGTATCCCTCAGAGCAGGGACAGTGTCTTGTCTCCTACAGGAAGACAATTATTGACCAACATGAGAAAGAGATTCACTATCTGCAAGATATCTTCATGGCCATGGAGCAGAACTATATAGATTCTGAGTATGAAAGCAAGCTGGAGTTCCAGAGCATGTGGAATGATCTCAAAAACATGGTACGGAGGGAGAGTAGATAGGCAAGAAGTGGGAGGAGGTGATAGAAAAATGCTCAAGGAGGCTGGGCACAGT... | benign | 196,024 |
Gene WNT1 (Wnt family member 1) variant at chromosome 12, position 48980564—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_15'] | GCCCGCCCCCAGGGTTGTTAAAGCCAGACTGCGAACTCTCGCCACTGCCGCCACCGCCGCGTCCCGTCCCACCGTCGCGGGCAACAACCAAAGTCGCCGCAACTGCAGCACAGAGCGGGCAAAGCCAGGCAGGCCATGGGGCTCTGGGCGCTGTTGCCTGGCTGGGTTTCTGCTACGCTGCTGCTGGCGCTGGCCGCTCTGCCCGCAGCCCTGGCTGCCAACAGCAGTGGCCGATGGTGGTAAGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGAGCCAGGGGCCAACCCTACCCAGCTCCCACGCTCTGGG... | GCCCGCCCCCAGGGTTGTTAAAGCCAGACTGCGAACTCTCGCCACTGCCGCCACCGCCGCGTCCCGTCCCACCGTCGCGGGCAACAACCAAAGTCGCCGCAACTGCAGCACAGAGCGGGCAAAGCCAGGCAGGCCATGGGGCTCTGGGCGCTGTTGCCTGGCTGGGTTTCTGCTACGCTGCTGCTGGCGCTGGCCGCTCTGCCCGCAGCCCTGGCTGCCAACAGCAGTGGCCGATGGTGGTAAGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGAGCCAGGGGCCAACCCTACCCAGCTCCCACGCTCTGGG... | pathogenic | 196,046 |
A mutation at chromosome position 48980642 on chromosome 12 in gene WNT1 (Wnt family member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Inborn_genetic_diseases'] | GGGCAACAACCAAAGTCGCCGCAACTGCAGCACAGAGCGGGCAAAGCCAGGCAGGCCATGGGGCTCTGGGCGCTGTTGCCTGGCTGGGTTTCTGCTACGCTGCTGCTGGCGCTGGCCGCTCTGCCCGCAGCCCTGGCTGCCAACAGCAGTGGCCGATGGTGGTAAGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGAGCCAGGGGCCAACCCTACCCAGCTCCCACGCTCTGGGATCCGTCTGCCGACAGGCTCCCTCCCCGCTCTGACTTCCCTCCGCGACACCGAAGGGCGATCTGGCATGAAACTGCCC... | GGGCAACAACCAAAGTCGCCGCAACTGCAGCACAGAGCGGGCAAAGCCAGGCAGGCCATGGGGCTCTGGGCGCTGTTGCCTGGCTGGGTTTCTGCTACGCTGCTGCTGGCGCTGGCCGCTCTGCCCGCAGCCCTGGCTGCCAACAGCAGTGGCCGATGGTGGTAAGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGAGCCAGGGGCCAACCCTACCCAGCTCCCACGCTCTGGGATCCGTCTGCCGACAGGCTCCCTCCCCGCTCTGACTTCCCTCCGCGACACCGAAGGGCGATCTGGCATGAAACTGCCC... | pathogenic | 196,047 |
A genetic alteration at chromosome 12, position 48981524, in gene WNT1 (Wnt family member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | TGAACGTAGCCTCCTCCACGAACCTGCTTACAGACTCCAAGAGTCTGCAACTGGTACTCGAGCCCAGTCTGCAGCTGTTGAGCCGCAAACAGCGGCGTCTGATACGCCAAAATCCGGGGATCCTGCACAGCGTGAGTGGGGGGCTGCAGAGTGCCGTGCGCGAGTGCAAGTGGCAGTTCCGGAATCGCCGCTGGAACTGTCCCACTGCTCCAGGGCCCCACCTCTTCGGCAAGATCGTCAACCGAGGTGGGTGCCCAGGAAGGCGACGCTTCCGGGAGCAGGGGAAACGCGGGGTCACCCCCAGGGCATGGGCGGGCGAG... | TGAACGTAGCCTCCTCCACGAACCTGCTTACAGACTCCAAGAGTCTGCAACTGGTACTCGAGCCCAGTCTGCAGCTGTTGAGCCGCAAACAGCGGCGTCTGATACGCCAAAATCCGGGGATCCTGCACAGCGTGAGTGGGGGGCTGCAGAGTGCCGTGCGCGAGTGCAAGTGGCAGTTCCGGAATCGCCGCTGGAACTGTCCCACTGCTCCAGGGCCCCACCTCTTCGGCAAGATCGTCAACCGAGGTGGGTGCCCAGGAAGGCGACGCTTCCGGGAGCAGGGGAAACGCGGGGTCACCCCCAGGGCATGGGCGGGCGAG... | pathogenic | 196,051 |
Chromosome 12, position 49022093, gene KMT2D (lysine methyltransferase 2D): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Kabuki_syndrome_1', 'Seizure'] | TACCAGAGAGGGGTTTGGGGCCTCACCCACCCCTTACCTACTCCCACCCCCAGGAAGAGGTTCAACTGCAGCACAAGCTTGGGCAGAAAGGGGAAGGAAAGGGAGGCAAGGAACCCATCACCCTCTGGCTCCCCCTGGGGTCAGCTCTCTTTTGTGCGTTATAACATAGTCCAACTATACAACAGGGGGTGGGAATTGCCCAGCCTCTATACCCCCATCTTACAGCAGTCACAGCCAGGGGGTGGGGAGTGGGGTGGGGGGTGAGGAAAAGGGCGGTAGGTCGGGTAATGGAGGGGGCCCCCCCACAAGGGGAGCTCCAT... | TACCAGAGAGGGGTTTGGGGCCTCACCCACCCCTTACCTACTCCCACCCCCAGGAAGAGGTTCAACTGCAGCACAAGCTTGGGCAGAAAGGGGAAGGAAAGGGAGGCAAGGAACCCATCACCCTCTGGCTCCCCCTGGGGTCAGCTCTCTTTTGTGCGTTATAACATAGTCCAACTATACAACAGGGGGTGGGAATTGCCCAGCCTCTATACCCCCATCTTACAGCAGTCACAGCCAGGGGGTGGGGAGTGGGGTGGGGGGTGAGGAAAAGGGCGGTAGGTCGGGTAATGGAGGGGGCCCCCCCACAAGGGGAGCTCCAT... | pathogenic | 196,058 |
Considering the genetic mutation at chromosome 12, position 49022122, impacting KMT2D (lysine methyltransferase 2D): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | CCCCTTACCTACTCCCACCCCCAGGAAGAGGTTCAACTGCAGCACAAGCTTGGGCAGAAAGGGGAAGGAAAGGGAGGCAAGGAACCCATCACCCTCTGGCTCCCCCTGGGGTCAGCTCTCTTTTGTGCGTTATAACATAGTCCAACTATACAACAGGGGGTGGGAATTGCCCAGCCTCTATACCCCCATCTTACAGCAGTCACAGCCAGGGGGTGGGGAGTGGGGTGGGGGGTGAGGAAAAGGGCGGTAGGTCGGGTAATGGAGGGGGCCCCCCCACAAGGGGAGCTCCATGTGTCCGCCCCACACCCCCCTACCATTTA... | CCCCTTACCTACTCCCACCCCCAGGAAGAGGTTCAACTGCAGCACAAGCTTGGGCAGAAAGGGGAAGGAAAGGGAGGCAAGGAACCCATCACCCTCTGGCTCCCCCTGGGGTCAGCTCTCTTTTGTGCGTTATAACATAGTCCAACTATACAACAGGGGGTGGGAATTGCCCAGCCTCTATACCCCCATCTTACAGCAGTCACAGCCAGGGGGTGGGGAGTGGGGTGGGGGGTGAGGAAAAGGGCGGTAGGTCGGGTAATGGAGGGGGCCCCCCCACAAGGGGAGCTCCATGTGTCCGCCCCACACCCCCCTACCATTTA... | pathogenic | 196,061 |
Variant in gene KMT2D (lysine methyltransferase 2D), located at chromosome 12 position 49022263: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCAACTATACAACAGGGGGTGGGAATTGCCCAGCCTCTATACCCCCATCTTACAGCAGTCACAGCCAGGGGGTGGGGAGTGGGGTGGGGGGTGAGGAAAAGGGCGGTAGGTCGGGTAATGGAGGGGGCCCCCCCACAAGGGGAGCTCCATGTGTCCGCCCCACACCCCCCTACCATTTATAAACTGGTTTTGTAAAAAGAAAATAGATATATTTATATAGAATATATAAAGCACAAAAATTAGTAGTTTTACATTTGCTCTCCCCGGGGGGTGGGGGGAGAGGGGAGGGTTCTCACCTCCAGCCGGCTCCCCCATGCCCC... | CCAACTATACAACAGGGGGTGGGAATTGCCCAGCCTCTATACCCCCATCTTACAGCAGTCACAGCCAGGGGGTGGGGAGTGGGGTGGGGGGTGAGGAAAAGGGCGGTAGGTCGGGTAATGGAGGGGGCCCCCCCACAAGGGGAGCTCCATGTGTCCGCCCCACACCCCCCTACCATTTATAAACTGGTTTTGTAAAAAGAAAATAGATATATTTATATAGAATATATAAAGCACAAAAATTAGTAGTTTTACATTTGCTCTCCCCGGGGGGTGGGGGGAGAGGGGAGGGTTCTCACCTCCAGCCGGCTCCCCCATGCCCC... | benign | 196,062 |
Variant in gene KMT2D (lysine methyltransferase 2D), located at chromosome 12 position 49024673: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | CCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCT... | CCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCT... | pathogenic | 196,082 |
A genetic variant on chromosome 12, position 49026797, affects the gene KMT2D (lysine methyltransferase 2D). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | TGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTG... | TGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTG... | pathogenic | 196,109 |
A genetic alteration at chromosome 12, position 49030281, in gene KMT2D (lysine methyltransferase 2D)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Kabuki_syndrome_1'] | GAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGA... | GAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGA... | pathogenic | 196,142 |
Assess the variant on chromosome 12, position 49030389, impacting KMT2D (lysine methyltransferase 2D): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Kabuki_syndrome'] | AAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGA... | AAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGA... | pathogenic | 196,144 |
Chromosome 12, position 49030394, gene KMT2D (lysine methyltransferase 2D): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Kabuki_syndrome_1'] | GGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCAT... | GGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCAT... | pathogenic | 196,145 |
Regarding the variant at chromosome 12 and position 49030443, affecting gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCATGATTCATTTACCCGAATCTCACAGCCTCTAGCCCAGGCTTTCACATACA... | TTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCATGATTCATTTACCCGAATCTCACAGCCTCTAGCCCAGGCTTTCACATACA... | benign | 196,147 |
Variant in gene KMT2D (lysine methyltransferase 2D), located at chromosome 12 position 49031384: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | AGGAAATATGAGGCAACCTGTACCCCACCCTTGTTCCTCATCCCCATTTCTGGCCCCGCCCCTACCTGACATCCTCAGTCTGATTGTGAGGGGGTGTAGGCAAGGCAGCCAGCAGGTCTAGACTCTTCACCTCTGAAGTATCTGAGGGGTGGGTAGGGAGAAGAAAAGTCAGGTGAGGGTGGCCAGGGCTGATGGTACCTTCTCCCAATATTTTAGGCCTAATTAGCATGAGATCTCAGCTATCATGATTAGCTGTCCTCCCACCTACCAGTTTGGGGCAAACAAGGTATATTTATTGAGTCTGTCCTGCATGCCAGGCA... | AGGAAATATGAGGCAACCTGTACCCCACCCTTGTTCCTCATCCCCATTTCTGGCCCCGCCCCTACCTGACATCCTCAGTCTGATTGTGAGGGGGTGTAGGCAAGGCAGCCAGCAGGTCTAGACTCTTCACCTCTGAAGTATCTGAGGGGTGGGTAGGGAGAAGAAAAGTCAGGTGAGGGTGGCCAGGGCTGATGGTACCTTCTCCCAATATTTTAGGCCTAATTAGCATGAGATCTCAGCTATCATGATTAGCTGTCCTCCCACCTACCAGTTTGGGGCAAACAAGGTATATTTATTGAGTCTGTCCTGCATGCCAGGCA... | pathogenic | 196,174 |
Located at chromosome 12 position 49031672, the variant affecting gene KMT2D (lysine methyltransferase 2D)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic | ATATTTATTGAGTCTGTCCTGCATGCCAGGCACTGTTGTTTTTTGTTTTTTTTGTTTTTTTTTTTTTTTTCCCGTAGAGATGGGGTCTTGTTATATTGCCCAAGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTTCCATCTTGGCCTCCCAAAATGTTGGGATTACAGGCATAAGCTACCAGGCCTGGTGGCAGCTGGCTTTAGATATACTCTTTGGAGTTTGTTTAGTCATTTAATAACTCCATTAAGTGAGTACTACAATAGCCATTTTACAGTGAGGAAACTGAGGCTCACACAAGTCAATCAAGTTACTTGGAT... | ATATTTATTGAGTCTGTCCTGCATGCCAGGCACTGTTGTTTTTTGTTTTTTTTGTTTTTTTTTTTTTTTTCCCGTAGAGATGGGGTCTTGTTATATTGCCCAAGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTTCCATCTTGGCCTCCCAAAATGTTGGGATTACAGGCATAAGCTACCAGGCCTGGTGGCAGCTGGCTTTAGATATACTCTTTGGAGTTTGTTTAGTCATTTAATAACTCCATTAAGTGAGTACTACAATAGCCATTTTACAGTGAGGAAACTGAGGCTCACACAAGTCAATCAAGTTACTTGGAT... | pathogenic | 196,183 |
Mutation at chromosome 12, position 49031808, within KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Kabuki_syndrome_1'] | TCCATCTTGGCCTCCCAAAATGTTGGGATTACAGGCATAAGCTACCAGGCCTGGTGGCAGCTGGCTTTAGATATACTCTTTGGAGTTTGTTTAGTCATTTAATAACTCCATTAAGTGAGTACTACAATAGCCATTTTACAGTGAGGAAACTGAGGCTCACACAAGTCAATCAAGTTACTTGGATACAGTAACACAGTTGAATGAATGCAGGAACCAGAATTCAAATCCAGATCAGAGTCTAGCTCCACACTCACTAAAGCTGGACTGTTCCTTCTATACAAAGCTTCATAAAGATGCTCCCTGCCACCCACCTCTCCTAT... | TCCATCTTGGCCTCCCAAAATGTTGGGATTACAGGCATAAGCTACCAGGCCTGGTGGCAGCTGGCTTTAGATATACTCTTTGGAGTTTGTTTAGTCATTTAATAACTCCATTAAGTGAGTACTACAATAGCCATTTTACAGTGAGGAAACTGAGGCTCACACAAGTCAATCAAGTTACTTGGATACAGTAACACAGTTGAATGAATGCAGGAACCAGAATTCAAATCCAGATCAGAGTCTAGCTCCACACTCACTAAAGCTGGACTGTTCCTTCTATACAAAGCTTCATAAAGATGCTCCCTGCCACCCACCTCTCCTAT... | pathogenic | 196,188 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 49033226, gene KMT2D (lysine methyltransferase 2D): what disease(s) if pathogenic? | pathogenic; ['Kabuki_syndrome_1'] | CTTGTTGCTGGGGGTACCCTGTAGTTTCTGCTCCAGCCCAGCCAGCTTGCTGTCAATGTGCCCGTTGATCTCAGCTCGCAGCCCCTCGGACCCCCGCCCAGTGCTGAGTTGCACATTCTTTGCCCGGAGTAGCTTCTGCAAGAGCAGATGCCCAGCTTCTGAGCGAGGGCCTGCCAGCAGGAGGTGGTTGCTGGTTCCTGGTGCCCCTATTGGCTCCCCATTGGCCTCCCTCTTCACTGACTGGGCTCCCAGGGCACATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCAT... | CTTGTTGCTGGGGGTACCCTGTAGTTTCTGCTCCAGCCCAGCCAGCTTGCTGTCAATGTGCCCGTTGATCTCAGCTCGCAGCCCCTCGGACCCCCGCCCAGTGCTGAGTTGCACATTCTTTGCCCGGAGTAGCTTCTGCAAGAGCAGATGCCCAGCTTCTGAGCGAGGGCCTGCCAGCAGGAGGTGGTTGCTGGTTCCTGGTGCCCCTATTGGCTCCCCATTGGCCTCCCTCTTCACTGACTGGGCTCCCAGGGCACATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCAT... | pathogenic | 196,230 |
Determine if the mutation at chromosome 12, position 49033282 in gene KMT2D (lysine methyltransferase 2D) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | TGTGCCCGTTGATCTCAGCTCGCAGCCCCTCGGACCCCCGCCCAGTGCTGAGTTGCACATTCTTTGCCCGGAGTAGCTTCTGCAAGAGCAGATGCCCAGCTTCTGAGCGAGGGCCTGCCAGCAGGAGGTGGTTGCTGGTTCCTGGTGCCCCTATTGGCTCCCCATTGGCCTCCCTCTTCACTGACTGGGCTCCCAGGGCACATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCATTCACCTGGTCCAGATGCCCAGGTACCAGGCTGCTCTGCTCTGGCTTCTGGGTTTCT... | TGTGCCCGTTGATCTCAGCTCGCAGCCCCTCGGACCCCCGCCCAGTGCTGAGTTGCACATTCTTTGCCCGGAGTAGCTTCTGCAAGAGCAGATGCCCAGCTTCTGAGCGAGGGCCTGCCAGCAGGAGGTGGTTGCTGGTTCCTGGTGCCCCTATTGGCTCCCCATTGGCCTCCCTCTTCACTGACTGGGCTCCCAGGGCACATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCATTCACCTGGTCCAGATGCCCAGGTACCAGGCTGCTCTGCTCTGGCTTCTGGGTTTCT... | pathogenic | 196,231 |
Is the genetic change at chromosome 12, position 49033318, within gene KMT2D (lysine methyltransferase 2D) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | CCCGCCCAGTGCTGAGTTGCACATTCTTTGCCCGGAGTAGCTTCTGCAAGAGCAGATGCCCAGCTTCTGAGCGAGGGCCTGCCAGCAGGAGGTGGTTGCTGGTTCCTGGTGCCCCTATTGGCTCCCCATTGGCCTCCCTCTTCACTGACTGGGCTCCCAGGGCACATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCATTCACCTGGTCCAGATGCCCAGGTACCAGGCTGCTCTGCTCTGGCTTCTGGGTTTCTGCTAGGTTGTCTGGGGGATCCCAAGGTCCCAGACCC... | CCCGCCCAGTGCTGAGTTGCACATTCTTTGCCCGGAGTAGCTTCTGCAAGAGCAGATGCCCAGCTTCTGAGCGAGGGCCTGCCAGCAGGAGGTGGTTGCTGGTTCCTGGTGCCCCTATTGGCTCCCCATTGGCCTCCCTCTTCACTGACTGGGCTCCCAGGGCACATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCATTCACCTGGTCCAGATGCCCAGGTACCAGGCTGCTCTGCTCTGGCTTCTGGGTTTCTGCTAGGTTGTCTGGGGGATCCCAAGGTCCCAGACCC... | pathogenic | 196,232 |
The mutation in gene KMT2D (lysine methyltransferase 2D) at chromosome 12, position 49033467—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGGGCTCCCAGGGCACATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCATTCACCTGGTCCAGATGCCCAGGTACCAGGCTGCTCTGCTCTGGCTTCTGGGTTTCTGCTAGGTTGTCTGGGGGATCCCAAGGTCCCAGACCCTTGCTAAACAAGGTATCTGCAAGCTGGGCAGCAGCAGGTGAGACCCTCCCAGGAGGCGGCTCCAAGGTTGGCCCCTGAGGTTTGGGGGTCCCTGGATGGGTGGGAGGGAGCTGGGCCTCAGTGGGAAGCTGGGAGCTGGGGGAAGGTAA... | TGGGCTCCCAGGGCACATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCATTCACCTGGTCCAGATGCCCAGGTACCAGGCTGCTCTGCTCTGGCTTCTGGGTTTCTGCTAGGTTGTCTGGGGGATCCCAAGGTCCCAGACCCTTGCTAAACAAGGTATCTGCAAGCTGGGCAGCAGCAGGTGAGACCCTCCCAGGAGGCGGCTCCAAGGTTGGCCCCTGAGGTTTGGGGGTCCCTGGATGGGTGGGAGGGAGCTGGGCCTCAGTGGGAAGCTGGGAGCTGGGGGAAGGTAA... | benign | 196,240 |
The mutation in gene KMT2D (lysine methyltransferase 2D) at chromosome 12, position 49033482—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCATTCACCTGGTCCAGATGCCCAGGTACCAGGCTGCTCTGCTCTGGCTTCTGGGTTTCTGCTAGGTTGTCTGGGGGATCCCAAGGTCCCAGACCCTTGCTAAACAAGGTATCTGCAAGCTGGGCAGCAGCAGGTGAGACCCTCCCAGGAGGCGGCTCCAAGGTTGGCCCCTGAGGTTTGGGGGTCCCTGGATGGGTGGGAGGGAGCTGGGCCTCAGTGGGAAGCTGGGAGCTGGGGGAAGGTAATTGTGAAGGTCTCTT... | CATGGCTCTTCCCGAGGTTCCTGCTTGATGCTGAGTTGGGATGCCTCAGGCACCACCTGTCCATTCACCTGGTCCAGATGCCCAGGTACCAGGCTGCTCTGCTCTGGCTTCTGGGTTTCTGCTAGGTTGTCTGGGGGATCCCAAGGTCCCAGACCCTTGCTAAACAAGGTATCTGCAAGCTGGGCAGCAGCAGGTGAGACCCTCCCAGGAGGCGGCTCCAAGGTTGGCCCCTGAGGTTTGGGGGTCCCTGGATGGGTGGGAGGGAGCTGGGCCTCAGTGGGAAGCTGGGAGCTGGGGGAAGGTAATTGTGAAGGTCTCTT... | benign | 196,241 |
Mutation found at chromosome 12 position 49033872, gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCTGGTGGGGCAGGGAGCCGGGGTGGGCCCTGAGGTCGAGGCCCTGCCCCTAGCTCCTGGAGGGGGCCTGTCTGTGGTCCAGGGAAGCCCCCAAGTTGAGGTTGGCAGCCCAGGAGGCCCTGGAGGGGAGAGGTCTGGGTCCCAGGCTCCTGGTAGGGTGGGGTCTGGCGTACTGCCTGACTCTGCTGCAGCTGCCGCTGCATGAGGAGTGCCTGTAGCTGCTGCTGCTGCTGAGGACTTAAGTGCCGCAGCTGTGGGTTTTTGGCCAGGACTCCTTGGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAAC... | CCTGGTGGGGCAGGGAGCCGGGGTGGGCCCTGAGGTCGAGGCCCTGCCCCTAGCTCCTGGAGGGGGCCTGTCTGTGGTCCAGGGAAGCCCCCAAGTTGAGGTTGGCAGCCCAGGAGGCCCTGGAGGGGAGAGGTCTGGGTCCCAGGCTCCTGGTAGGGTGGGGTCTGGCGTACTGCCTGACTCTGCTGCAGCTGCCGCTGCATGAGGAGTGCCTGTAGCTGCTGCTGCTGCTGAGGACTTAAGTGCCGCAGCTGTGGGTTTTTGGCCAGGACTCCTTGGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAAC... | benign | 196,252 |
A mutation at chromosome position 49033902 on chromosome 12 in gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGAGGTCGAGGCCCTGCCCCTAGCTCCTGGAGGGGGCCTGTCTGTGGTCCAGGGAAGCCCCCAAGTTGAGGTTGGCAGCCCAGGAGGCCCTGGAGGGGAGAGGTCTGGGTCCCAGGCTCCTGGTAGGGTGGGGTCTGGCGTACTGCCTGACTCTGCTGCAGCTGCCGCTGCATGAGGAGTGCCTGTAGCTGCTGCTGCTGCTGAGGACTTAAGTGCCGCAGCTGTGGGTTTTTGGCCAGGACTCCTTGGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGAC... | TGAGGTCGAGGCCCTGCCCCTAGCTCCTGGAGGGGGCCTGTCTGTGGTCCAGGGAAGCCCCCAAGTTGAGGTTGGCAGCCCAGGAGGCCCTGGAGGGGAGAGGTCTGGGTCCCAGGCTCCTGGTAGGGTGGGGTCTGGCGTACTGCCTGACTCTGCTGCAGCTGCCGCTGCATGAGGAGTGCCTGTAGCTGCTGCTGCTGCTGAGGACTTAAGTGCCGCAGCTGTGGGTTTTTGGCCAGGACTCCTTGGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGAC... | benign | 196,257 |
Variant in gene KMT2D (lysine methyltransferase 2D), located at chromosome 12 position 49037582: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | AACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCAC... | AACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCAC... | pathogenic | 196,288 |
Is the chromosome 12, position 49038090 variant in KMT2D (lysine methyltransferase 2D) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Kabuki_syndrome_1'] | CCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAATAGTAATTACTCAATAAATGCTATTATAATTTGAGGTCTTTTTCAATCTGGCCCCCATCTTATCTCACCAAAATTATGTCACTTACTTCACTCGAAACAGTTTACTCCAGCCTAACCAATTCACTCACTGTTCTTGAAACATCCCATAGGTTTTCCCACCATTGCAGCCTCAATGAACTTTTTCACCTATCCCAATCGCTTTTTTTTTTTTTTTTAAGACAGAGTCTCGCTCTGTTGCCCAGCCTGA... | CCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAATAGTAATTACTCAATAAATGCTATTATAATTTGAGGTCTTTTTCAATCTGGCCCCCATCTTATCTCACCAAAATTATGTCACTTACTTCACTCGAAACAGTTTACTCCAGCCTAACCAATTCACTCACTGTTCTTGAAACATCCCATAGGTTTTCCCACCATTGCAGCCTCAATGAACTTTTTCACCTATCCCAATCGCTTTTTTTTTTTTTTTTAAGACAGAGTCTCGCTCTGTTGCCCAGCCTGA... | pathogenic | 196,305 |
Chromosome 12, position 49039488, gene KMT2D (lysine methyltransferase 2D): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Kabuki_syndrome_1'] | AACTGGGAGAAGAGCCCTCATGTGGCAAAGACATGGCCTGGGCAGGGCCTGGTGCAGACAGTAGGGAATGCTGCTGCTGCTGTTGCTGCTGCTGCTGGGCAGGCTGCAACTGTGCTGAAAGCTGCTGCTTCTTCTGCAGCTCCTTCTTCTCATGCTCCAACAGGTCCTCAATGAGCAGGGGTAACTCGCTGGCTACCAGTGAGCTCTCCATCTTGTCTAGCTCATCCCCAGATGCTGCAGGTCCACCAGGCAAGGTCAAAGCCCCACTCTCGAGCTCAAACTTTTCCAGCAGGGAGGATCCTCCTGGGCCACTCAGTGGG... | AACTGGGAGAAGAGCCCTCATGTGGCAAAGACATGGCCTGGGCAGGGCCTGGTGCAGACAGTAGGGAATGCTGCTGCTGCTGTTGCTGCTGCTGCTGGGCAGGCTGCAACTGTGCTGAAAGCTGCTGCTTCTTCTGCAGCTCCTTCTTCTCATGCTCCAACAGGTCCTCAATGAGCAGGGGTAACTCGCTGGCTACCAGTGAGCTCTCCATCTTGTCTAGCTCATCCCCAGATGCTGCAGGTCCACCAGGCAAGGTCAAAGCCCCACTCTCGAGCTCAAACTTTTCCAGCAGGGAGGATCCTCCTGGGCCACTCAGTGGG... | pathogenic | 196,332 |
Is the genetic change at chromosome 12, position 49039515, within gene KMT2D (lysine methyltransferase 2D) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AAGACATGGCCTGGGCAGGGCCTGGTGCAGACAGTAGGGAATGCTGCTGCTGCTGTTGCTGCTGCTGCTGGGCAGGCTGCAACTGTGCTGAAAGCTGCTGCTTCTTCTGCAGCTCCTTCTTCTCATGCTCCAACAGGTCCTCAATGAGCAGGGGTAACTCGCTGGCTACCAGTGAGCTCTCCATCTTGTCTAGCTCATCCCCAGATGCTGCAGGTCCACCAGGCAAGGTCAAAGCCCCACTCTCGAGCTCAAACTTTTCCAGCAGGGAGGATCCTCCTGGGCCACTCAGTGGGCTGGGGGTCAGCAGGTGAGCTGGTGGT... | AAGACATGGCCTGGGCAGGGCCTGGTGCAGACAGTAGGGAATGCTGCTGCTGCTGTTGCTGCTGCTGCTGGGCAGGCTGCAACTGTGCTGAAAGCTGCTGCTTCTTCTGCAGCTCCTTCTTCTCATGCTCCAACAGGTCCTCAATGAGCAGGGGTAACTCGCTGGCTACCAGTGAGCTCTCCATCTTGTCTAGCTCATCCCCAGATGCTGCAGGTCCACCAGGCAAGGTCAAAGCCCCACTCTCGAGCTCAAACTTTTCCAGCAGGGAGGATCCTCCTGGGCCACTCAGTGGGCTGGGGGTCAGCAGGTGAGCTGGTGGT... | benign | 196,335 |
Evaluate if the mutation on chromosome 12 at position 49039741 in KMT2D (lysine methyltransferase 2D) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Kabuki_syndrome_1'] | GGTCAAAGCCCCACTCTCGAGCTCAAACTTTTCCAGCAGGGAGGATCCTCCTGGGCCACTCAGTGGGCTGGGGGTCAGCAGGTGAGCTGGTGGTCCTCCCGTGGCCCCAAAGGAGGCCTTCTCAGCTGTGTGCCCACTGCTAGAAAATGGCCCTGTGCCCATCCGGGTATCCCGGCTGCCCATCATGCTCTGTCCTGGCTTTAGCCCCAGGCCAAGGGAATTGGCAGCAGGTGCGGGCTCTACCTTGGGGGTAGCAATGGTGAATTGGCAAGGAGAAGGGTGGCGTCCACCCTCCTCCACCTTGGGCTTCACCTCAGGGA... | GGTCAAAGCCCCACTCTCGAGCTCAAACTTTTCCAGCAGGGAGGATCCTCCTGGGCCACTCAGTGGGCTGGGGGTCAGCAGGTGAGCTGGTGGTCCTCCCGTGGCCCCAAAGGAGGCCTTCTCAGCTGTGTGCCCACTGCTAGAAAATGGCCCTGTGCCCATCCGGGTATCCCGGCTGCCCATCATGCTCTGTCCTGGCTTTAGCCCCAGGCCAAGGGAATTGGCAGCAGGTGCGGGCTCTACCTTGGGGGTAGCAATGGTGAATTGGCAAGGAGAAGGGTGGCGTCCACCCTCCTCCACCTTGGGCTTCACCTCAGGGA... | pathogenic | 196,346 |
Clinical significance of chromosome 12, position 49040156, gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Kabuki_syndrome_1'] | TCCCGTTCAGCCTTCTCATTAGCCGATTCTACCAGCCTCAGGTGCTCATTGAAGATATCCTTCTTGTCCCCAGTGTCCAGCTCAGGATCAGTATATGCCAGCAGGTCAAACTCGTCTCCATTGAGCAGGTCATCCAAGTGGGGGTCATTGGTCTCCAGGTTTTCTAAGGTGCCAAGTTCATCATCACCCTTGGCCACATCCACACCCAGACCCAGGTGAGCAAGCTCTTCATCATCCTCTAGGGCCTTGTGGGCATCAAAATCGTCATCCAGCTCGGGATCCTCACAGGGCAACTTCCCAGCTTCCAGGGCCAGAGGATT... | TCCCGTTCAGCCTTCTCATTAGCCGATTCTACCAGCCTCAGGTGCTCATTGAAGATATCCTTCTTGTCCCCAGTGTCCAGCTCAGGATCAGTATATGCCAGCAGGTCAAACTCGTCTCCATTGAGCAGGTCATCCAAGTGGGGGTCATTGGTCTCCAGGTTTTCTAAGGTGCCAAGTTCATCATCACCCTTGGCCACATCCACACCCAGACCCAGGTGAGCAAGCTCTTCATCATCCTCTAGGGCCTTGTGGGCATCAAAATCGTCATCCAGCTCGGGATCCTCACAGGGCAACTTCCCAGCTTCCAGGGCCAGAGGATT... | pathogenic | 196,361 |
Variant at chromosome 12, position 49040391, gene KMT2D (lysine methyltransferase 2D): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Kabuki_syndrome_1'] | CCTCTAGGGCCTTGTGGGCATCAAAATCGTCATCCAGCTCGGGATCCTCACAGGGCAACTTCCCAGCTTCCAGGGCCAGAGGATTGGGGCGGCCAAGCTCAGTGCTCGACGGGGGCCGGTTGACCAGCTCCAAACCAGTTGGCAGGGTAGGACCCTTGGTGTGGGGTGTTGGATGAAGACTGTTGTTCAATTCAGGGGCCGGTGGGGCTGAGGGTTTCTGTGGGGGAAGACCTGATACCGCCAGGCCCCGAAGCCCTTCAGGAGCCAGTCGGTGGGGGTCCTCACTTACAGGGTAAAAACGGGGTCTCTGAGGTGGGCCC... | CCTCTAGGGCCTTGTGGGCATCAAAATCGTCATCCAGCTCGGGATCCTCACAGGGCAACTTCCCAGCTTCCAGGGCCAGAGGATTGGGGCGGCCAAGCTCAGTGCTCGACGGGGGCCGGTTGACCAGCTCCAAACCAGTTGGCAGGGTAGGACCCTTGGTGTGGGGTGTTGGATGAAGACTGTTGTTCAATTCAGGGGCCGGTGGGGCTGAGGGTTTCTGTGGGGGAAGACCTGATACCGCCAGGCCCCGAAGCCCTTCAGGAGCCAGTCGGTGGGGGTCCTCACTTACAGGGTAAAAACGGGGTCTCTGAGGTGGGCCC... | pathogenic | 196,377 |
Classify the chromosome 12 variant at position 49040777 affecting gene KMT2D (lysine methyltransferase 2D) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | TGGGCAGGACCAGCTGGACCAGGCACTGGCTCACCAGGGCCTGGCAGACGGGTGGAAATTCCCGCCAACGGGGAACCTAGGGCTTGGCGGCCAAGTTCAGGTCCAGGAGTTGATGGAAAGCGAGCTGACATGGCAAATCGCATGGAGGTTGCTGCTGTTGCCTGTTGTTGCTGCCACAGTTGTTGCTGTTGCTGCTGTAAGGGCAGGGACCCAGGATAGGGTGCTCGCTGATAGAAAGCTTGGGAGCCTCCTACCAGTTGCCTGGAAGAATATACAGTAGTCAGTAGGATGAAATCAGATGAAAAGGAGCAAGAACATGG... | TGGGCAGGACCAGCTGGACCAGGCACTGGCTCACCAGGGCCTGGCAGACGGGTGGAAATTCCCGCCAACGGGGAACCTAGGGCTTGGCGGCCAAGTTCAGGTCCAGGAGTTGATGGAAAGCGAGCTGACATGGCAAATCGCATGGAGGTTGCTGCTGTTGCCTGTTGTTGCTGCCACAGTTGTTGCTGTTGCTGCTGTAAGGGCAGGGACCCAGGATAGGGTGCTCGCTGATAGAAAGCTTGGGAGCCTCCTACCAGTTGCCTGGAAGAATATACAGTAGTCAGTAGGATGAAATCAGATGAAAAGGAGCAAGAACATGG... | pathogenic | 196,391 |
Assess the variant on chromosome 12, position 49041157, impacting KMT2D (lysine methyltransferase 2D): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Kabuki_syndrome'] | AGAGAAAGTGATACTGGAAAAGGATTAGTGATACAGGAAAATCACAAGAGCTTCCAACAGTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAACCTCCTGGAGCCTCACCGGCTGTTCACATCCATAGAGGAAGGCGTGGCTGGTGGAGGTGGCCGGGAGAGTCGGTCATCGCTAGGGAAGGACCCTGGCCCCAGGATGGGGCCACTCAGCTTGCTTGGGGGCAACCCCACAAGGCTGCTCTTGTCCTAGAAGAGACAAGGTAGATGAAGGTGGAGCAACCTTCAATATCCTGGCCCCACTATCCCTTGCCACTCT... | AGAGAAAGTGATACTGGAAAAGGATTAGTGATACAGGAAAATCACAAGAGCTTCCAACAGTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAACCTCCTGGAGCCTCACCGGCTGTTCACATCCATAGAGGAAGGCGTGGCTGGTGGAGGTGGCCGGGAGAGTCGGTCATCGCTAGGGAAGGACCCTGGCCCCAGGATGGGGCCACTCAGCTTGCTTGGGGGCAACCCCACAAGGCTGCTCTTGTCCTAGAAGAGACAAGGTAGATGAAGGTGGAGCAACCTTCAATATCCTGGCCCCACTATCCCTTGCCACTCT... | pathogenic | 196,411 |
Regarding the variant at chromosome 12 and position 49041174, affecting gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome', 'Kabuki_syndrome', 'Kabuki_syndrome_1'] | AAAAGGATTAGTGATACAGGAAAATCACAAGAGCTTCCAACAGTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAACCTCCTGGAGCCTCACCGGCTGTTCACATCCATAGAGGAAGGCGTGGCTGGTGGAGGTGGCCGGGAGAGTCGGTCATCGCTAGGGAAGGACCCTGGCCCCAGGATGGGGCCACTCAGCTTGCTTGGGGGCAACCCCACAAGGCTGCTCTTGTCCTAGAAGAGACAAGGTAGATGAAGGTGGAGCAACCTTCAATATCCTGGCCCCACTATCCCTTGCCACTCTACCTACCTGTGTCCCAG... | AAAAGGATTAGTGATACAGGAAAATCACAAGAGCTTCCAACAGTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAACCTCCTGGAGCCTCACCGGCTGTTCACATCCATAGAGGAAGGCGTGGCTGGTGGAGGTGGCCGGGAGAGTCGGTCATCGCTAGGGAAGGACCCTGGCCCCAGGATGGGGCCACTCAGCTTGCTTGGGGGCAACCCCACAAGGCTGCTCTTGTCCTAGAAGAGACAAGGTAGATGAAGGTGGAGCAACCTTCAATATCCTGGCCCCACTATCCCTTGCCACTCTACCTACCTGTGTCCCAG... | pathogenic | 196,413 |
Assess the variant on chromosome 12, position 49041927, impacting KMT2D (lysine methyltransferase 2D): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Kabuki_syndrome_1'] | CATGGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGTGGTGGCAGAACCGACGGAGGGCGTAGTGGGGACAGCCCATAGCTCTCCCCTGTGGACCCGCTGCTGGGCCCCAGGGGGCTGCCCGATGGGTGGAAGTTCCCTGTGGCTACTGTGTAGTTTGTGCTTTGAGGCTTGCCCAAGGTGGGGCCGGGCCCAAAATGGCTGTTGATCCCATGGGGTGGCGGGAGACCAGGCTGAGGGACAGGGGGCTTTAGGGAAGGCTCCCCTACTGCCTGAGGGAAAGTGAAACGCATGGGAGAGGGGGTGCCCACAAATGCACCC... | CATGGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGTGGTGGCAGAACCGACGGAGGGCGTAGTGGGGACAGCCCATAGCTCTCCCCTGTGGACCCGCTGCTGGGCCCCAGGGGGCTGCCCGATGGGTGGAAGTTCCCTGTGGCTACTGTGTAGTTTGTGCTTTGAGGCTTGCCCAAGGTGGGGCCGGGCCCAAAATGGCTGTTGATCCCATGGGGTGGCGGGAGACCAGGCTGAGGGACAGGGGGCTTTAGGGAAGGCTCCCCTACTGCCTGAGGGAAAGTGAAACGCATGGGAGAGGGGGTGCCCACAAATGCACCC... | pathogenic | 196,435 |
Variant at chromosome 12, position 49043089, gene KMT2D (lysine methyltransferase 2D): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | TGGGTCAGGTGTGGAGGGCTGGTGTCTGGGGGTGCCAGGTGGGGTAGTGTGGAATTCCCCTGGCTGGCCAGCCCCAGGACGAGATGAGGCGCCCAGCATCGGGGGCTGCGCAGGGGCCCCCGTAGGACTAGGATAGGGGGGATAGGTGGGCGGTGCCGTGGGGAAGCGGGGCTCCAGGGGATAGGCAGGGGCCAGTCCAAAGGGGTCCTGCGAAGGCACTTGGGCGGGCACCTGGGGTGGGAGCTTGAGGAAGAGCTCACCAGGCGAGTCAGGGCCAGGCACCGAGCCCGCCGGCGGCTTCAGGAACCCGTCCGCAGAGG... | TGGGTCAGGTGTGGAGGGCTGGTGTCTGGGGGTGCCAGGTGGGGTAGTGTGGAATTCCCCTGGCTGGCCAGCCCCAGGACGAGATGAGGCGCCCAGCATCGGGGGCTGCGCAGGGGCCCCCGTAGGACTAGGATAGGGGGGATAGGTGGGCGGTGCCGTGGGGAAGCGGGGCTCCAGGGGATAGGCAGGGGCCAGTCCAAAGGGGTCCTGCGAAGGCACTTGGGCGGGCACCTGGGGTGGGAGCTTGAGGAAGAGCTCACCAGGCGAGTCAGGGCCAGGCACCGAGCCCGCCGGCGGCTTCAGGAACCCGTCCGCAGAGG... | pathogenic | 196,453 |
Is chromosome 12, position 49044262, gene KMT2D (lysine methyltransferase 2D) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Kabuki_syndrome_1'] | CCGTCGCCCTCACCCTCCGTGGTGGGGGTTGTGGGGGTGGAGGGCGTGGTGCCACCTGAGCCCGTCCAGGGGCTGTCGGGCTCACCGGGTTCCGGGCTAAAGAAGCCCCCGCGCTCCCTGGGGCGCAGGGGCAGAGAGTCACAGGGCGCAGGGATGCCAAGTCCCACCCCAGACAAACTGCCTAGAGCCCCAGGCCACTGCCCTGCCCCAAAAGAGGAGGGTCACTAACAAGGGAATGGGGAGGAGCAGGGGAAGTGCTGCAGGAGTCCGAGGGAGGCAAAGCATGAACTCAGATGGAGGGAAAGGACAACGAGGACTGC... | CCGTCGCCCTCACCCTCCGTGGTGGGGGTTGTGGGGGTGGAGGGCGTGGTGCCACCTGAGCCCGTCCAGGGGCTGTCGGGCTCACCGGGTTCCGGGCTAAAGAAGCCCCCGCGCTCCCTGGGGCGCAGGGGCAGAGAGTCACAGGGCGCAGGGATGCCAAGTCCCACCCCAGACAAACTGCCTAGAGCCCCAGGCCACTGCCCTGCCCCAAAAGAGGAGGGTCACTAACAAGGGAATGGGGAGGAGCAGGGGAAGTGCTGCAGGAGTCCGAGGGAGGCAAAGCATGAACTCAGATGGAGGGAAAGGACAACGAGGACTGC... | pathogenic | 196,470 |
The mutation in gene KMT2D (lysine methyltransferase 2D) at chromosome 12, position 49046314—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Kabuki_syndrome'] | TGTGGGATTTCCGCTGTCGCACCATGAAACCACCAATGCCTATGAGGAGGCAGAGTTGTGGATGAGAAGCCGCTGGGGGACCTATTGAGCTGCCCCGCACCACCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCAT... | TGTGGGATTTCCGCTGTCGCACCATGAAACCACCAATGCCTATGAGGAGGCAGAGTTGTGGATGAGAAGCCGCTGGGGGACCTATTGAGCTGCCCCGCACCACCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCAT... | pathogenic | 196,488 |
Variant at chromosome 12, position 49046631, gene KMT2D (lysine methyltransferase 2D): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | CATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGT... | CATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGT... | pathogenic | 196,492 |
Classify the chromosome 12 variant at position 49048032 affecting gene KMT2D (lysine methyltransferase 2D) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | AAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTA... | AAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTA... | pathogenic | 196,496 |
Evaluate this variant at chromosome 12, position 49048064, gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | AAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGC... | AAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGC... | pathogenic | 196,500 |
A genetic alteration at chromosome 12, position 49048573, in gene KMT2D (lysine methyltransferase 2D)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACT... | CCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACT... | benign | 196,504 |
Is chromosome 12, position 49048778, gene KMT2D (lysine methyltransferase 2D) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | ACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGT... | ACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGT... | benign | 196,507 |
Evaluate this variant at chromosome 12, position 49049218, gene KMT2D: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Kabuki_syndrome_1'] | GGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGC... | GGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGC... | pathogenic | 196,513 |
A genetic variant on chromosome 12, position 49049883, affects the gene KMT2D. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Kabuki_syndrome'] | AACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGA... | AACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGA... | pathogenic | 196,522 |
Regarding the variant found on chromosome 12 at position 49049938 in gene KMT2D: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | GGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACC... | GGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACC... | pathogenic | 196,524 |
Mutation at chromosome 12, position 49050002, within KMT2D: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Kabuki_syndrome_1'] | CCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGC... | CCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGC... | pathogenic | 196,527 |
Does the variant impacting KMT2D (lysine methyltransferase 2D) on chromosome 12, position 49050251, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | AGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATG... | AGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATG... | pathogenic | 196,536 |
Variant in KMT2D (lysine methyltransferase 2D), chromosome 12, position 49050477—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Kabuki_syndrome'] | AAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGG... | AAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGG... | pathogenic | 196,543 |
Evaluate if the mutation on chromosome 12 at position 49050593 in KMT2D (lysine methyltransferase 2D) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['KMT2D-related_disorder', 'Kabuki_syndrome', 'Kabuki_syndrome_1'] | GTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGGAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGATAAATCTGCCCCCACCAAGCTACTTTCCTCTTTGGTGTTGGGGGAAGAAAGTGTGAACCCT... | GTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGGAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGATAAATCTGCCCCCACCAAGCTACTTTCCTCTTTGGTGTTGGGGGAAGAAAGTGTGAACCCT... | pathogenic | 196,549 |
Benign or pathogenic: chromosome 12, position 49050796, gene KMT2D (lysine methyltransferase 2D) variant? Disease(s) if pathogenic? | benign | GAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGATAAATCTGCCCCCACCAAGCTACTTTCCTCTTTGGTGTTGGGGGAAGAAAGTGTGAACCCTTGGTTAAGATGAAGGCCAAAAGCCAGGAATAACAGACAGAACACCCCAGCTCCCAAATTGAGCCTCAGTCTGATAGCAGAGATTTCAGAAAAACCTGCGGGCCAAGTGGACAGGAATTCAGACATAGCCAGACAGGCCCTAGACGAGCAGGCAGGTAGGCAAGCATGCAAGGGACTGGCAGGACTCAGAGGGTGCTAAAGCAT... | GAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGATAAATCTGCCCCCACCAAGCTACTTTCCTCTTTGGTGTTGGGGGAAGAAAGTGTGAACCCTTGGTTAAGATGAAGGCCAAAAGCCAGGAATAACAGACAGAACACCCCAGCTCCCAAATTGAGCCTCAGTCTGATAGCAGAGATTTCAGAAAAACCTGCGGGCCAAGTGGACAGGAATTCAGACATAGCCAGACAGGCCCTAGACGAGCAGGCAGGTAGGCAAGCATGCAAGGGACTGGCAGGACTCAGAGGGTGCTAAAGCAT... | benign | 196,554 |
Variant in gene KMT2D (lysine methyltransferase 2D), located at chromosome 12 position 49051097: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TCAGAGGGTGCTAAAGCATGGTTGGGGGATGGGAGGAATAGGAGGCATCTCCTTACTACCAGAGTCTCAATGGAAGAAGCAGTTGACTTTAGCCGGGCCCGTCCTCTACCACGTCCTCCATGGGCTCCTCCACGAGGCCGGCGTCTTCCTGGGAAACTGCTGCTGCGACCCTGAGTGAAAGAAGGGGACAATGACAGGAGCATGTCAAGGGCTAGTGTGTTGGGTTTACACACTTGAACAGAAGAAGTGACAAACGGACAGAGTAAGACAGGTAATAAGCCCAGGAGTCCCACTCAGGGCAAGGGAAAAGGCCAAACTCC... | TCAGAGGGTGCTAAAGCATGGTTGGGGGATGGGAGGAATAGGAGGCATCTCCTTACTACCAGAGTCTCAATGGAAGAAGCAGTTGACTTTAGCCGGGCCCGTCCTCTACCACGTCCTCCATGGGCTCCTCCACGAGGCCGGCGTCTTCCTGGGAAACTGCTGCTGCGACCCTGAGTGAAAGAAGGGGACAATGACAGGAGCATGTCAAGGGCTAGTGTGTTGGGTTTACACACTTGAACAGAAGAAGTGACAAACGGACAGAGTAAGACAGGTAATAAGCCCAGGAGTCCCACTCAGGGCAAGGGAAAAGGCCAAACTCC... | benign | 196,562 |
Evaluate the clinical significance of the mutation at chromosome 12, position 49051103 in gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Branchial_cleft_anomaly', 'Kabuki_syndrome_1'] | GGTGCTAAAGCATGGTTGGGGGATGGGAGGAATAGGAGGCATCTCCTTACTACCAGAGTCTCAATGGAAGAAGCAGTTGACTTTAGCCGGGCCCGTCCTCTACCACGTCCTCCATGGGCTCCTCCACGAGGCCGGCGTCTTCCTGGGAAACTGCTGCTGCGACCCTGAGTGAAAGAAGGGGACAATGACAGGAGCATGTCAAGGGCTAGTGTGTTGGGTTTACACACTTGAACAGAAGAAGTGACAAACGGACAGAGTAAGACAGGTAATAAGCCCAGGAGTCCCACTCAGGGCAAGGGAAAAGGCCAAACTCCCAGATA... | GGTGCTAAAGCATGGTTGGGGGATGGGAGGAATAGGAGGCATCTCCTTACTACCAGAGTCTCAATGGAAGAAGCAGTTGACTTTAGCCGGGCCCGTCCTCTACCACGTCCTCCATGGGCTCCTCCACGAGGCCGGCGTCTTCCTGGGAAACTGCTGCTGCGACCCTGAGTGAAAGAAGGGGACAATGACAGGAGCATGTCAAGGGCTAGTGTGTTGGGTTTACACACTTGAACAGAAGAAGTGACAAACGGACAGAGTAAGACAGGTAATAAGCCCAGGAGTCCCACTCAGGGCAAGGGAAAAGGCCAAACTCCCAGATA... | pathogenic | 196,563 |
Clinically, how would you classify the variant at chromosome 12, position 49051406, gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGCCAAACTCCCAGATATCAACAAGCGCATAGCTCTAGCCCAAACCCATTCTTCCCCTCCCAAGAGTGGTTGAGATGGGCAAGGAGAAAAAACAATGGCTTGAAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCC... | GGCCAAACTCCCAGATATCAACAAGCGCATAGCTCTAGCCCAAACCCATTCTTCCCCTCCCAAGAGTGGTTGAGATGGGCAAGGAGAAAAAACAATGGCTTGAAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCC... | benign | 196,572 |
Does the variant on chromosome 12 at location 49051419 affecting gene KMT2D (lysine methyltransferase 2D) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Kabuki_syndrome_1'] | GATATCAACAAGCGCATAGCTCTAGCCCAAACCCATTCTTCCCCTCCCAAGAGTGGTTGAGATGGGCAAGGAGAAAAAACAATGGCTTGAAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGAT... | GATATCAACAAGCGCATAGCTCTAGCCCAAACCCATTCTTCCCCTCCCAAGAGTGGTTGAGATGGGCAAGGAGAAAAAACAATGGCTTGAAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGAT... | pathogenic | 196,573 |
Does the chromosome 12 mutation at position 49051508 within gene KMT2D (lysine methyltransferase 2D) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | AAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTG... | AAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTG... | pathogenic | 196,583 |
Located at chromosome 12 position 49051568, the variant affecting gene KMT2D (lysine methyltransferase 2D)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTG... | CTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTG... | benign | 196,588 |
Regarding the variant found on chromosome 12 at position 49051715 in gene KMT2D (lysine methyltransferase 2D): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Kabuki_syndrome', 'Kabuki_syndrome_1'] | TAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTGGACTAACATCCGTAGAGACCCCCAACTCCATGGACAGGGAGCCACCCCCCTCCGGGTCTGGAGAGCCCAGGAGGGGCTCTGAGCCAGGAAAACTGGCACTGGCATCACCCTGGCTCAGATTAGAGATCTCGTTAACGATGTCGGATT... | TAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTGGACTAACATCCGTAGAGACCCCCAACTCCATGGACAGGGAGCCACCCCCCTCCGGGTCTGGAGAGCCCAGGAGGGGCTCTGAGCCAGGAAAACTGGCACTGGCATCACCCTGGCTCAGATTAGAGATCTCGTTAACGATGTCGGATT... | pathogenic | 196,597 |
Gene KMT2D (lysine methyltransferase 2D) variant at chromosome 12, position 49051742—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Kabuki_syndrome_1', 'Lung_cancer'] | GGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTGGACTAACATCCGTAGAGACCCCCAACTCCATGGACAGGGAGCCACCCCCCTCCGGGTCTGGAGAGCCCAGGAGGGGCTCTGAGCCAGGAAAACTGGCACTGGCATCACCCTGGCTCAGATTAGAGATCTCGTTAACGATGTCGGATTTGATGAGAGTGGGTGGTGTGGGGGCCA... | GGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTGGACTAACATCCGTAGAGACCCCCAACTCCATGGACAGGGAGCCACCCCCCTCCGGGTCTGGAGAGCCCAGGAGGGGCTCTGAGCCAGGAAAACTGGCACTGGCATCACCCTGGCTCAGATTAGAGATCTCGTTAACGATGTCGGATTTGATGAGAGTGGGTGGTGTGGGGGCCA... | pathogenic | 196,600 |
For chromosome 12, position 49052048, gene KMT2D (lysine methyltransferase 2D): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Kabuki_syndrome_1'] | TGGTGTGGGGGCCACCGGTGCACGTGGCTCTTCCTGTTCTTCACATGGTGAGCCCTGCCCTGCTGTCTGCTTGCATTCGGGGTAGACCTCCATAGGGGTCACAGGGGCCAGCTCCTCGGGGTCCAGGAGCACAGGGGAGCCTTTAAGTTCACTAGCCAAACTGCCAGGGGTCTGTCCAGGCTCTGGCTGTGAACCCGGAGCATCAATCCCATCCAGAGGGGCTGTGTCTTCCCCTAGGCCAGAGAAGTCATCCAGGGCTGGGGCAGGGCTGGGGGCGGGGCAGGAAAGGTCCCCCATTGGGGAAGGGAGAGGACTGGTGG... | TGGTGTGGGGGCCACCGGTGCACGTGGCTCTTCCTGTTCTTCACATGGTGAGCCCTGCCCTGCTGTCTGCTTGCATTCGGGGTAGACCTCCATAGGGGTCACAGGGGCCAGCTCCTCGGGGTCCAGGAGCACAGGGGAGCCTTTAAGTTCACTAGCCAAACTGCCAGGGGTCTGTCCAGGCTCTGGCTGTGAACCCGGAGCATCAATCCCATCCAGAGGGGCTGTGTCTTCCCCTAGGCCAGAGAAGTCATCCAGGGCTGGGGCAGGGCTGGGGGCGGGGCAGGAAAGGTCCCCCATTGGGGAAGGGAGAGGACTGGTGG... | pathogenic | 196,606 |
A genetic variant at chromosome 12, position 49052336, affecting gene KMT2D (lysine methyltransferase 2D)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Kabuki_syndrome'] | GTCCCCCATTGGGGAAGGGAGAGGACTGGTGGCACTGGGTTCCAAGGCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCT... | GTCCCCCATTGGGGAAGGGAGAGGACTGGTGGCACTGGGTTCCAAGGCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCT... | pathogenic | 196,614 |
Is the variant located on chromosome 12 at position 49052350, gene KMT2D (lysine methyltransferase 2D), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Kabuki_syndrome_1'] | AAGGGAGAGGACTGGTGGCACTGGGTTCCAAGGCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAG... | AAGGGAGAGGACTGGTGGCACTGGGTTCCAAGGCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAG... | pathogenic | 196,615 |
Is the variant located on chromosome 12 at position 49052381, gene KMT2D (lysine methyltransferase 2D), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Kabuki_syndrome_1'] | GGCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAGTTAGCTTCTGGTGGAGGGCTGATGGGTGTCT... | GGCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAGTTAGCTTCTGGTGGAGGGCTGATGGGTGTCT... | pathogenic | 196,616 |
Variant at chromosome 12, position 49052382, gene KMT2D (lysine methyltransferase 2D): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Kabuki_syndrome_1'] | GCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAGTTAGCTTCTGGTGGAGGGCTGATGGGTGTCTC... | GCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAGTTAGCTTCTGGTGGAGGGCTGATGGGTGTCTC... | pathogenic | 196,617 |
Variant in KMT2D (lysine methyltransferase 2D), chromosome 12, position 49052382—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Kabuki_syndrome_1'] | GCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAGTTAGCTTCTGGTGGAGGGCTGATGGGTGTCTC... | GCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAGTTAGCTTCTGGTGGAGGGCTGATGGGTGTCTC... | pathogenic | 196,618 |
Regarding the variant found on chromosome 12 at position 49052678 in gene KMT2D (lysine methyltransferase 2D): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Kabuki_syndrome_1'] | TGGTGGAGGGCTGATGGGTGTCTCCAGGATGGGGGCAGCCAACGGTGACTCAGGGTCACTGTCCCCTTTGGCACCAAAGGGGTACTCTAACTCCCCCAAAGGAGACAGGGCCGGTGGGGCCGCAGCTGTGATGATGGGTGAGAGTGGAGGAGGAAGGGGATCTGGAAGGAAAGAGAAAAAAGAAGGGCTCTTAGATTAGATGTGCCATGAAGAGTTACAGCTGTTCCAGAATAACAGAGTACTAACATCCCCTTACCTGGTGGCATCAGCTGAGGCGACAAGGATGGCTCCCCAGATGGGGACAACGGCAGCTCCTCGGG... | TGGTGGAGGGCTGATGGGTGTCTCCAGGATGGGGGCAGCCAACGGTGACTCAGGGTCACTGTCCCCTTTGGCACCAAAGGGGTACTCTAACTCCCCCAAAGGAGACAGGGCCGGTGGGGCCGCAGCTGTGATGATGGGTGAGAGTGGAGGAGGAAGGGGATCTGGAAGGAAAGAGAAAAAAGAAGGGCTCTTAGATTAGATGTGCCATGAAGAGTTACAGCTGTTCCAGAATAACAGAGTACTAACATCCCCTTACCTGGTGGCATCAGCTGAGGCGACAAGGATGGCTCCCCAGATGGGGACAACGGCAGCTCCTCGGG... | pathogenic | 196,622 |
Regarding the variant at chromosome 12 and position 49053302, affecting gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Kabuki_syndrome_1'] | GTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGACAAGTGTGGCTCCTCAGGCACAGCGCATAGGCATGGCTCCTCAGGCTGGGGGGACAGGTGTGGCTCCTCAGCCTGCGGAGATAGGTGTGGCTCCTCAGGCCGGGGGGACAGGTGCGGCTCCTCAGGCCGGGGTGACAGGTGCGGCCCCTCGGACCGGGGGCAGAGTTGCGGCTCCTCAGGTAGTGGCAACAGGGGTGACTCCTCCAGCGGCAGGGACATGAGCGAGTCCTCCGGTGGTGGGGAAGCAGGTGAGTC... | GTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGACAAGTGTGGCTCCTCAGGCACAGCGCATAGGCATGGCTCCTCAGGCTGGGGGGACAGGTGTGGCTCCTCAGCCTGCGGAGATAGGTGTGGCTCCTCAGGCCGGGGGGACAGGTGCGGCTCCTCAGGCCGGGGTGACAGGTGCGGCCCCTCGGACCGGGGGCAGAGTTGCGGCTCCTCAGGTAGTGGCAACAGGGGTGACTCCTCCAGCGGCAGGGACATGAGCGAGTCCTCCGGTGGTGGGGAAGCAGGTGAGTC... | pathogenic | 196,632 |
A genetic variant at chromosome 12, position 49053478, affecting gene KMT2D (lysine methyltransferase 2D)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Kabuki_syndrome', 'Kabuki_syndrome_1'] | GTGCGGCTCCTCAGGCCGGGGTGACAGGTGCGGCCCCTCGGACCGGGGGCAGAGTTGCGGCTCCTCAGGTAGTGGCAACAGGGGTGACTCCTCCAGCGGCAGGGACATGAGCGAGTCCTCCGGTGGTGGGGAAGCAGGTGAGTCCTCAGGTGGTGGGGATGTGGGGGAGTCCTCAGGTGGTGGGGAGAGGCGTGAAGCCTCAGGTGGAGGGGACGTGGGAGACTCCTCAGGCGGTGGGGACAAGGGAGATTCCTCAGGCGGTGGAGACAGGCGTGACACCACAGGCAGGGGGGATAGGCGCGATACCTCAGGTGGGGGGG... | GTGCGGCTCCTCAGGCCGGGGTGACAGGTGCGGCCCCTCGGACCGGGGGCAGAGTTGCGGCTCCTCAGGTAGTGGCAACAGGGGTGACTCCTCCAGCGGCAGGGACATGAGCGAGTCCTCCGGTGGTGGGGAAGCAGGTGAGTCCTCAGGTGGTGGGGATGTGGGGGAGTCCTCAGGTGGTGGGGAGAGGCGTGAAGCCTCAGGTGGAGGGGACGTGGGAGACTCCTCAGGCGGTGGGGACAAGGGAGATTCCTCAGGCGGTGGAGACAGGCGTGACACCACAGGCAGGGGGGATAGGCGCGATACCTCAGGTGGGGGGG... | pathogenic | 196,633 |
Considering the variant on chromosome 12, location 49053612, involving gene KMT2D (lysine methyltransferase 2D), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Kabuki_syndrome_1'] | CAGGTGAGTCCTCAGGTGGTGGGGATGTGGGGGAGTCCTCAGGTGGTGGGGAGAGGCGTGAAGCCTCAGGTGGAGGGGACGTGGGAGACTCCTCAGGCGGTGGGGACAAGGGAGATTCCTCAGGCGGTGGAGACAGGCGTGACACCACAGGCAGGGGGGATAGGCGCGATACCTCAGGTGGGGGGGACATAGGTGATTCTTCAGGTGGTGGGGACATAGGCGAGTCCTCAGGTGGTGGGGACAGGCGTGATGCCTCAGGTGGTGGGGAAAGGGGAGACTCCTCAGGTGGAGGGGACAGAGGAGACTCTTCAAATGGTGGG... | CAGGTGAGTCCTCAGGTGGTGGGGATGTGGGGGAGTCCTCAGGTGGTGGGGAGAGGCGTGAAGCCTCAGGTGGAGGGGACGTGGGAGACTCCTCAGGCGGTGGGGACAAGGGAGATTCCTCAGGCGGTGGAGACAGGCGTGACACCACAGGCAGGGGGGATAGGCGCGATACCTCAGGTGGGGGGGACATAGGTGATTCTTCAGGTGGTGGGGACATAGGCGAGTCCTCAGGTGGTGGGGACAGGCGTGATGCCTCAGGTGGTGGGGAAAGGGGAGACTCCTCAGGTGGAGGGGACAGAGGAGACTCTTCAAATGGTGGG... | pathogenic | 196,637 |
Clinically, how would you classify the variant at chromosome 12, position 49054426, gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GTTTAGGGGGGCCTCCAACTGGGGCTCAAGTTGGACCCCTGCTTTCCCTGCAGACACAACAACACGATGCTCCTATCTAGCTCAGATCTACTCCACAGAAAGTGTGGGGTCTGGGGCAATGCACAAACTGTCTCTTGCCATAGAATAAAAGGGGATGAATTTCAGGGACCCTCAAACCCTACTCACCTAGTGGTTTGGCTTCACATTGCAGGGGCCCTGGTTCCTTGGGTTGCATAGAGGTCACGTGCCCACCCTTTGGCTGCCCTTGGCATGCAACGTACAGAGCATCGGGCTCGTCAGTGGGGGTATCGCCAGGCTCT... | GTTTAGGGGGGCCTCCAACTGGGGCTCAAGTTGGACCCCTGCTTTCCCTGCAGACACAACAACACGATGCTCCTATCTAGCTCAGATCTACTCCACAGAAAGTGTGGGGTCTGGGGCAATGCACAAACTGTCTCTTGCCATAGAATAAAAGGGGATGAATTTCAGGGACCCTCAAACCCTACTCACCTAGTGGTTTGGCTTCACATTGCAGGGGCCCTGGTTCCTTGGGTTGCATAGAGGTCACGTGCCCACCCTTTGGCTGCCCTTGGCATGCAACGTACAGAGCATCGGGCTCGTCAGTGGGGGTATCGCCAGGCTCT... | benign | 196,645 |
The genetic variant at chromosome 12, position 49054624, affecting gene KMT2D (lysine methyltransferase 2D): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Kabuki_syndrome'] | CTTCACATTGCAGGGGCCCTGGTTCCTTGGGTTGCATAGAGGTCACGTGCCCACCCTTTGGCTGCCCTTGGCATGCAACGTACAGAGCATCGGGCTCGTCAGTGGGGGTATCGCCAGGCTCTGGGGGTGAAAATCTGCAGAGGGTACAGGGGAGCAGGCACTGTGGCTCTCACCAGCTAACAAATCCTAGAGAGCACACTGGGGGGAGGCACGAATGCTGTGGATGGCACTGCCCACCTTAGGGCTCTCCTCTCAAAGTCCACTCAATTTAACAAGGCCCCTGCCAATGTCAGTTCTTCCAACCTGCCAGCCCAATCTCA... | CTTCACATTGCAGGGGCCCTGGTTCCTTGGGTTGCATAGAGGTCACGTGCCCACCCTTTGGCTGCCCTTGGCATGCAACGTACAGAGCATCGGGCTCGTCAGTGGGGGTATCGCCAGGCTCTGGGGGTGAAAATCTGCAGAGGGTACAGGGGAGCAGGCACTGTGGCTCTCACCAGCTAACAAATCCTAGAGAGCACACTGGGGGGAGGCACGAATGCTGTGGATGGCACTGCCCACCTTAGGGCTCTCCTCTCAAAGTCCACTCAATTTAACAAGGCCCCTGCCAATGTCAGTTCTTCCAACCTGCCAGCCCAATCTCA... | pathogenic | 196,648 |
Is the genetic change at chromosome 12, position 49185008, within gene TUBA1A (tubulin alpha 1a) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GACGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAATATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTG... | GACGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAATATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTG... | benign | 196,666 |
A genetic variant on chromosome 12, position 49188973, affects the gene TUBA1A (tubulin alpha 1a). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Lissencephaly_due_to_TUBA1A_mutation'] | CAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATGAAGTAAATCCAATTATGACTTAATTGGGATTAATTTTACTGCTTTCTTCCCTTTTAAATAAAGATGAAAGTTTCCTCTGAATAGGACTTGATATT... | CAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATGAAGTAAATCCAATTATGACTTAATTGGGATTAATTTTACTGCTTTCTTCCCTTTTAAATAAAGATGAAAGTTTCCTCTGAATAGGACTTGATATT... | pathogenic | 196,771 |
Does the genetic variant at chromosome 12, position 49950918, impacting gene AQP2 (aquaporin 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Diabetes_insipidus,_nephrogenic,_autosomal'] | GTTGGGAGGGATGGCTGAGGGAAGAGTGCCAGGGCACCAGGTGTCTATGTGTCAGGCCAGGAGTTAGGCACTGGAAATACACAGGAGAACAAACCCCACAGGAATCCCTGCTCTTTTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTC... | GTTGGGAGGGATGGCTGAGGGAAGAGTGCCAGGGCACCAGGTGTCTATGTGTCAGGCCAGGAGTTAGGCACTGGAAATACACAGGAGAACAAACCCCACAGGAATCCCTGCTCTTTTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTC... | pathogenic | 196,820 |
Clinical significance of chromosome 12, position 49955497, gene AQP2: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Diabetes_insipidus,_nephrogenic,_autosomal'] | AGGGTCTGCTGAGACCATGGGCAGCCTACATGGGTGTGGAGGCATTGTCCAACACAGCTCCAGGGCCCTTACCCCAACCTCCATAGGATGTGCAGGGAGCAAACTAACAGGGCAAACCTGAGGCCTGAAAGGCAGTGGGGAATAGACAAGGGTTAGGGAAAGAGGTAGATTCCGGACTCATAGCGGAAAGGGGCACACTAGGACTGTCCCCCAGACCCAAGTCCCTAGACCCTGTCTCTGGGAGCCATTTAACCTCAGGAAGAAAGACCACAGGCCTCTCATTGCACCAAGGTCTGATGGTCTACAGACAGAGGAAGGTC... | AGGGTCTGCTGAGACCATGGGCAGCCTACATGGGTGTGGAGGCATTGTCCAACACAGCTCCAGGGCCCTTACCCCAACCTCCATAGGATGTGCAGGGAGCAAACTAACAGGGCAAACCTGAGGCCTGAAAGGCAGTGGGGAATAGACAAGGGTTAGGGAAAGAGGTAGATTCCGGACTCATAGCGGAAAGGGGCACACTAGGACTGTCCCCCAGACCCAAGTCCCTAGACCCTGTCTCTGGGAGCCATTTAACCTCAGGAAGAAAGACCACAGGCCTCTCATTGCACCAAGGTCTGATGGTCTACAGACAGAGGAAGGTC... | pathogenic | 196,855 |
Variant in AQP5, chromosome 12, position 49962391—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GAGTGGGTGGGAAGAGGGAGAGGGTGGTGTGCGAGGAGGCAGCAGGTCACAAAGGGGTTACAAGCTCAGAGGGAAGGGGGATGGGAACTGGAAGAAAGTGTCACCCAGACCAGGGGTAGAAGAACTTGACTTTGGGGAGACTGAGAAAGACCACATGTAAGAGAGAGAGACATGGAAAATGAGGTAGAAACAGACAGAAACAAAGAAAGGCACAAAAATTAAGAGGCAGAGGAAAGGTGAAAATAGCCAGGAGACAGAAACTGCAGGATGAGAGAAATGAATAGAGAGAGACAGAGAGACTAAGACAGCAAAAGGCAGGA... | GAGTGGGTGGGAAGAGGGAGAGGGTGGTGTGCGAGGAGGCAGCAGGTCACAAAGGGGTTACAAGCTCAGAGGGAAGGGGGATGGGAACTGGAAGAAAGTGTCACCCAGACCAGGGGTAGAAGAACTTGACTTTGGGGAGACTGAGAAAGACCACATGTAAGAGAGAGAGACATGGAAAATGAGGTAGAAACAGACAGAAACAAAGAAAGGCACAAAAATTAAGAGGCAGAGGAAAGGTGAAAATAGCCAGGAGACAGAAACTGCAGGATGAGAGAAATGAATAGAGAGAGACAGAGAGACTAAGACAGCAAAAGGCAGGA... | benign | 196,869 |
Determine whether the variant at chromosome 12, position 51662872, in gene SCN8A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic | TAGGAGTGTAGAAAGGGAAATAATTAGTCAAGGCTGAGTTGGTGGGAAGACTGTGGAGGAGTAGGGATTTATTGGGGGGCAATGCAAGGATGGGTAGGAGAAGAATGAAGGAAAAGGAATTTTAGGTTGGGGAAAGCATTGTAACTAGTCTTAGATCAGTAAAGCCATAACATCTATGTGATTTACTTACTAAACAAAACTATTCCTGTTAGGGAGTAGTGGGACATAGCAAAGGAGGATAAATAACTGATATTTATTATAATGAAAGAAGTTCTGAGATGGGGCACCAGAGCATTTTGGTTGTGATTTTTATCCTGGCC... | TAGGAGTGTAGAAAGGGAAATAATTAGTCAAGGCTGAGTTGGTGGGAAGACTGTGGAGGAGTAGGGATTTATTGGGGGGCAATGCAAGGATGGGTAGGAGAAGAATGAAGGAAAAGGAATTTTAGGTTGGGGAAAGCATTGTAACTAGTCTTAGATCAGTAAAGCCATAACATCTATGTGATTTACTTACTAAACAAAACTATTCCTGTTAGGGAGTAGTGGGACATAGCAAAGGAGGATAAATAACTGATATTTATTATAATGAAAGAAGTTCTGAGATGGGGCACCAGAGCATTTTGGTTGTGATTTTTATCCTGGCC... | pathogenic | 196,961 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.