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 |
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome X at position 46854003 in RP2 (RP2 activator of ARL3 GTPase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | AACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAGAGAGAGAGAGAAAGGAGGGAGGGAAGGAAGGGAAGGAAGAGAGGAAGGGAGGGAGGGAGGAAG... | AACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAGAAAAAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGAGAATGGCCTGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAGAGAGAGAGAGAAAGGAGGGAGGGAAGGAAGGGAAGGAAGAGAGGAAGGGAGGGAGGGAGGAAG... | pathogenic | 333,655 |
Variant in gene RP2 (RP2 activator of ARL3 GTPase), located at chromosome X position 46860019: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy'] | AGCATTGAATGAGGGTTCTGAAATAGGATTTGAGTTTAATAAAATTCGATGGAATGGTATGGAATAATGTAGCCATAGGATGAAATACTATCAGCCATTAAAACTGACTTTATGTAGAAAATGTCACAATTAAGTAAGTGAAAATTTGTAGAATATTAGGTAAGTAACTGATTTTTTTAAGTAGGTAAGTCTGGAAAGTTATAGATACTTAAATGTTAACAGGCATGCTTATTCTTAGGCAGTTGATTAACAGCAGGGTTTTCTTTTTTTGTAGTTCTATGGATTTAACAGTGAGCATATATTATTTCTGTAATGGGAGA... | AGCATTGAATGAGGGTTCTGAAATAGGATTTGAGTTTAATAAAATTCGATGGAATGGTATGGAATAATGTAGCCATAGGATGAAATACTATCAGCCATTAAAACTGACTTTATGTAGAAAATGTCACAATTAAGTAAGTGAAAATTTGTAGAATATTAGGTAAGTAACTGATTTTTTTAAGTAGGTAAGTCTGGAAAGTTATAGATACTTAAATGTTAACAGGCATGCTTATTCTTAGGCAGTTGATTAACAGCAGGGTTTTCTTTTTTTGTAGTTCTATGGATTTAACAGTGAGCATATATTATTTCTGTAATGGGAGA... | pathogenic | 333,658 |
Considering the variant on chromosome X, location 47181315, involving gene RBM10 (RNA binding motif protein 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Inborn_genetic_diseases'] | AGTCGTGGAGCCTTCCCCTTATCACCAGCCTGTCTCCCACTGCCCCTGACAGAGGCAGAGCAGAAGCTGCCCCTCGGCACGAGGCTGGATCAGCAGACACTGCCACTGGGTGGCCGGGAGCTGAGCCAGGGCCTGCTTCCCCTGCCGCAGCCCTACCAGGCCCAGGGAGTCCTGGCCTCCCAAGCCCTGTCACAGGGCTCGGAGCCAAGCTCAGAGAACGCCAATGACAGTGAGTCAGTTGTTCCTTCTTCCTCTGTGCCCTAGGGTGTCGGGCTGGGCTCACCAAGACCAGAGAAATGGCAGTGAGCAGGACCTCATCC... | AGTCGTGGAGCCTTCCCCTTATCACCAGCCTGTCTCCCACTGCCCCTGACAGAGGCAGAGCAGAAGCTGCCCCTCGGCACGAGGCTGGATCAGCAGACACTGCCACTGGGTGGCCGGGAGCTGAGCCAGGGCCTGCTTCCCCTGCCGCAGCCCTACCAGGCCCAGGGAGTCCTGGCCTCCCAAGCCCTGTCACAGGGCTCGGAGCCAAGCTCAGAGAACGCCAATGACAGTGAGTCAGTTGTTCCTTCTTCCTCTGTGCCCTAGGGTGTCGGGCTGGGCTCACCAAGACCAGAGAAATGGCAGTGAGCAGGACCTCATCC... | pathogenic | 333,691 |
Is the genetic change at chromosome X, position 47574544, within gene SYN1 (synapsin I) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Epilepsy,_X-linked_1,_with_variable_learning_disabilities_and_behavior_disorders'] | AGGGCTCCAGGAAGGGATTCTGCAATGGGTTGCCTGGTATTTGGGCACTTCCAGGAAGGAAAACGCCCTCTGGGGAAACCAGGGGCGGAGGTCTTCAGGAATGTGGAGGTTCTAAAACAGAAGTAGATCCTGAAGTGACCACGAGTGGGGTTCTAAAAGGACTTGGGGATTCCACATGTGAGAACCGGATTTAGGGCCAGGAGGAGTCAGGTTTCTCAAGGTACTCGGGGATCTTGAGGAATGAGAGGTGGAATCTTGGAGAACCGGGAGATGGGTTCTCAAGGGATTTGGAGACTCCAAAAGTGAGAAATGGATTCAGG... | AGGGCTCCAGGAAGGGATTCTGCAATGGGTTGCCTGGTATTTGGGCACTTCCAGGAAGGAAAACGCCCTCTGGGGAAACCAGGGGCGGAGGTCTTCAGGAATGTGGAGGTTCTAAAACAGAAGTAGATCCTGAAGTGACCACGAGTGGGGTTCTAAAAGGACTTGGGGATTCCACATGTGAGAACCGGATTTAGGGCCAGGAGGAGTCAGGTTTCTCAAGGTACTCGGGGATCTTGAGGAATGAGAGGTGGAATCTTGGAGAACCGGGAGATGGGTTCTCAAGGGATTTGGAGACTCCAAAAGTGAGAAATGGATTCAGG... | pathogenic | 333,824 |
Clinical classification of chromosome X, position 47576240, gene SYN1 (synapsin I): benign or pathogenic? Disease(s) if pathogenic? | benign | CTGGGCCTGGGGGTTTCTGGGGCGGGCCCTGGCGCTGCTGCCCGCCCGGTGGGGCCCCAGAGGCCTTTGGCGGAGCCGGGCCAGAGACGGATGTCTGACGGGTAGCCTGTGGGGGGCCCGCCTGGCGCTGGGGAGACGGAGAGGCGGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGC... | CTGGGCCTGGGGGTTTCTGGGGCGGGCCCTGGCGCTGCTGCCCGCCCGGTGGGGCCCCAGAGGCCTTTGGCGGAGCCGGGCCAGAGACGGATGTCTGACGGGTAGCCTGTGGGGGGCCCGCCTGGCGCTGGGGAGACGGAGAGGCGGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGC... | benign | 333,831 |
Variant on chromosome X, at position 47576385, affecting SYN1 (synapsin I): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Epilepsy,_X-linked_1,_with_variable_learning_disabilities_and_behavior_disorders'] | GGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGCTGCTGGCCCTGCGGGGGCGGGCGCTGCTGCAATGGGGGTCCCTGGCGCTGGGGGCCTGGACCCGGCTGTGGAGGGCCGCCTGGGGGACAGAGGGAGAGAAAGAGCACACGTGAGAGTGAGCGGGTAAGAGATGGCGGGCTGAGGG... | GGGCGGGCGGGCTGCTGGAGGCGCCCCGGGGCCTCCCGCCACTGGCCGGGATTGGCGGCCTTGACCCTGGGTCGGCGGCGCGGCCTGGGACGCGGGCTGCTGGGGCGCTGAGGTGGGACTTGGAAGGCGCTGGGGCAGGGGGCTGCCAGCTGGGGGTCCAAGGCCTGAAAGGTGCTGCTGGCCCTGCGGGGGCGGGCGCTGCTGCAATGGGGGTCCCTGGCGCTGGGGGCCTGGACCCGGCTGTGGAGGGCCGCCTGGGGGACAGAGGGAGAGAAAGAGCACACGTGAGAGTGAGCGGGTAAGAGATGGCGGGCTGAGGG... | pathogenic | 333,834 |
A genetic variant on chromosome X, position 47619726, affects the gene SYN1 (synapsin I). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Epilepsy,_X-linked_1,_with_variable_learning_disabilities_and_behavior_disorders'] | AAAACAACAGGTCCTGCATATGTGCTCACTGGATCTACTGTTAAGAAAACAATTCTGGGGAGGAGGTGTGAATATACAGAACACACAGAAGACACTCCATAAATGCTCAGGGGAGCCATTGGAAGAAAAGGTCTTTGGGGGAGGATGATTAAAATGGAGCACATGACAGACAAGGAATAAATGCTCACTGGATCCATTAGAAGAAAAGGCCTTTGGGGAGTGGGGCTGGGGATGGACATATAGTCACCTGATCAAGGCTCACTGCATCCCTGAAGGAAAAGTCCTATGGGGAGGGGAAATGGGAGTGCAGAAAGTTGATC... | AAAACAACAGGTCCTGCATATGTGCTCACTGGATCTACTGTTAAGAAAACAATTCTGGGGAGGAGGTGTGAATATACAGAACACACAGAAGACACTCCATAAATGCTCAGGGGAGCCATTGGAAGAAAAGGTCTTTGGGGGAGGATGATTAAAATGGAGCACATGACAGACAAGGAATAAATGCTCACTGGATCCATTAGAAGAAAAGGCCTTTGGGGAGTGGGGCTGGGGATGGACATATAGTCACCTGATCAAGGCTCACTGCATCCCTGAAGGAAAAGTCCTATGGGGAGGGGAAATGGGAGTGCAGAAAGTTGATC... | pathogenic | 333,857 |
For chromosome X, position 48514624, gene PORCN (porcupine O-acyltransferase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Focal_dermal_hypoplasia'] | TTGATCCCTACAGAGCTGCCGGTGGCTGCAGAAGGTGGCCCGGAGCCTGGCACTGGCCCTGCTGTGCCTTGTGCTGTCCACTTGCGTGGGCCCCTACCTCTTCCCGTACTTCATCCCCCTCAACGGTGACCGCCTCCTTCGCAAGTGAGCACAGCCTTCGAGGCCCCTGCCCAGCAATGAGGGGGTTGGGTAGGGACCCGCGGTTTCCCCAGTTCTGAGCCTGTCTCTTAATGCTTCTTTCTGTCTTCTGTTACTACAGCAAGAAACGCAAAGCCAGGTAAATGAGGGCAGGTGTGAGGGCACGTGGAGTGGGGCTGACA... | TTGATCCCTACAGAGCTGCCGGTGGCTGCAGAAGGTGGCCCGGAGCCTGGCACTGGCCCTGCTGTGCCTTGTGCTGTCCACTTGCGTGGGCCCCTACCTCTTCCCGTACTTCATCCCCCTCAACGGTGACCGCCTCCTTCGCAAGTGAGCACAGCCTTCGAGGCCCCTGCCCAGCAATGAGGGGGTTGGGTAGGGACCCGCGGTTTCCCCAGTTCTGAGCCTGTCTCTTAATGCTTCTTTCTGTCTTCTGTTACTACAGCAAGAAACGCAAAGCCAGGTAAATGAGGGCAGGTGTGAGGGCACGTGGAGTGGGGCTGACA... | pathogenic | 333,911 |
The mutation impacting PORCN (porcupine O-acyltransferase) on chromosome X at position 48515941: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Focal_dermal_hypoplasia'] | TCTGGCCACGTGAGCCTGCAGGGCCATGCCATATTATAGGATAGCTCATGCATCCATTTGAGCCACATAAGACTAACTGCCTGAGGGTGGATGTCTGTGTGTGACTATCATAGTTCACCTTTTTTGTGGCTACATTTCATCTGTCTTGTCTGAACAATTCAGACCAGCCTCCAGGGCCTCTCTGACTCTCTTTTCTTTCTTCTCTGCTGCCTTCCTGACCCCTGGGGGCCCTAGGGGCACCATGGTAAGGTGAGTCTACAGAGCGGGGCCCAGGATGCTGACATGTGGTGGGGTATCATGTTGGGACCTGAACGTGATGC... | TCTGGCCACGTGAGCCTGCAGGGCCATGCCATATTATAGGATAGCTCATGCATCCATTTGAGCCACATAAGACTAACTGCCTGAGGGTGGATGTCTGTGTGTGACTATCATAGTTCACCTTTTTTGTGGCTACATTTCATCTGTCTTGTCTGAACAATTCAGACCAGCCTCCAGGGCCTCTCTGACTCTCTTTTCTTTCTTCTCTGCTGCCTTCCTGACCCCTGGGGGCCCTAGGGGCACCATGGTAAGGTGAGTCTACAGAGCGGGGCCCAGGATGCTGACATGTGGTGGGGTATCATGTTGGGACCTGAACGTGATGC... | pathogenic | 333,913 |
Variant at chromosome position 48683883, chromosome X, gene WAS (WASP actin nucleation promoting factor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia'] | TTGAACCTGCACGTGTGGGAAGCCATGGAAGTTTCCAGGAAGGACTGCAGGTCCCAACTGGAGATGTGCCGTTCCTCCTTCAGGTACCTGGGAATGTCAGTCACACCCCAGACCTGCTCAGCTCCCCCAAACTGCTGTTCCTGTATCTGAGAGCTTCAAGTCTCCAAATGGCCTACCTCATACATGGGGAAACTGAGGCCTGGGGAGGCCGGGGACTGAGCTAGCATTCACTTGTGGAAATAGTCTGGCATCATCTGGAGAAGTTAGAGACATGCAAACCCTACAGCCCTCAGATTCCCGTCTGAGAGTCTGCATGCCTA... | TTGAACCTGCACGTGTGGGAAGCCATGGAAGTTTCCAGGAAGGACTGCAGGTCCCAACTGGAGATGTGCCGTTCCTCCTTCAGGTACCTGGGAATGTCAGTCACACCCCAGACCTGCTCAGCTCCCCCAAACTGCTGTTCCTGTATCTGAGAGCTTCAAGTCTCCAAATGGCCTACCTCATACATGGGGAAACTGAGGCCTGGGGAGGCCGGGGACTGAGCTAGCATTCACTTGTGGAAATAGTCTGGCATCATCTGGAGAAGTTAGAGACATGCAAACCCTACAGCCCTCAGATTCCCGTCTGAGAGTCTGCATGCCTA... | pathogenic | 333,939 |
Benign or pathogenic: chromosome X, position 48684321, gene WAS (WASP actin nucleation promoting factor) variant? Disease(s) if pathogenic? | pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia'] | ACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTC... | ACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTC... | pathogenic | 333,946 |
Determine if the mutation at chromosome X, position 48684404 in gene WAS (WASP actin nucleation promoting factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia'] | AAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCA... | AAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCA... | pathogenic | 333,952 |
Gene mutation in WAS (WASP actin nucleation promoting factor) at chromosome X, position 48684427—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCAT... | GCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCAT... | benign | 333,956 |
Determine whether the variant at chromosome X, position 48684427, in gene WAS (WASP actin nucleation promoting factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCAT... | GCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCAT... | benign | 333,957 |
Does the variant on chromosome X at location 48685941 affecting gene WAS (WASP actin nucleation promoting factor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Thrombocytopenia_1'] | GGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGA... | GGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGA... | pathogenic | 333,969 |
Determine if the mutation at chromosome X, position 48686772 in gene WAS (WASP actin nucleation promoting factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGA... | TCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGA... | benign | 333,975 |
Regarding the variant found on chromosome X at position 48686941 in gene WAS (WASP actin nucleation promoting factor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia'] | GTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTG... | GTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTG... | pathogenic | 333,979 |
Is the genetic mutation found on chromosome X at position 48688723, within the gene WAS (WASP actin nucleation promoting factor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia'] | CATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGG... | CATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGG... | pathogenic | 333,994 |
Is the genetic variant on chromosome X, position 48688781, gene WAS (WASP actin nucleation promoting factor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['X-linked_severe_congenital_neutropenia'] | TTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGC... | TTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGC... | pathogenic | 333,996 |
Gene WAS (WASP actin nucleation promoting factor) variant at chromosome X, position 48688880—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia'] | ACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTT... | ACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTT... | pathogenic | 334,005 |
Classify the chromosome X variant at position 48688994 affecting gene WAS (WASP actin nucleation promoting factor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Thrombocytopenia_1', 'Wiskott-Aldrich_syndrome', 'X-linked_severe_congenital_neutropenia'] | GTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCT... | GTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCT... | pathogenic | 334,008 |
The genetic variant at chromosome X, position 48791851, affecting gene GATA1 (GATA binding protein 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Diamond-Blackfan_anemia', 'Down_syndrome', 'GATA_binding_protein_1_related_thrombocytopenia_with_dyserythropoiesis'] | GGAGGAGGGAGTCAAGCCCGGAAACCATGGGGTTTCTGAGAAAGTTAGAGGGCAAGATACAACAGATAGGGATGAAGTTGGGGAGCAGAGGATGGTGAACCCCAAAGTCCTGGGTGAAGTGACCAAGAGGCAAGGGACTCTGGTCCTGCATGCCATCCCACCCTCACCCAGACTCTTCTAGAGGGGGAGGGAAGAAAGGACGGGGGGACGGGGAGAATAAGAGGAAGTGGAGGAGGGGAGGAGAGGAGATGGGGAAAGGGAGAAAAGGATGAACAGAAAAGGGAGGAGAAGGATGAAGAAATTGGAGGGGAGGAGAAAAT... | GGAGGAGGGAGTCAAGCCCGGAAACCATGGGGTTTCTGAGAAAGTTAGAGGGCAAGATACAACAGATAGGGATGAAGTTGGGGAGCAGAGGATGGTGAACCCCAAAGTCCTGGGTGAAGTGACCAAGAGGCAAGGGACTCTGGTCCTGCATGCCATCCCACCCTCACCCAGACTCTTCTAGAGGGGGAGGGAAGAAAGGACGGGGGGACGGGGAGAATAAGAGGAAGTGGAGGAGGGGAGGAGAGGAGATGGGGAAAGGGAGAAAAGGATGAACAGAAAAGGGAGGAGAAGGATGAAGAAATTGGAGGGGAGGAGAAAAT... | pathogenic | 334,030 |
Mutation found at chromosome X position 48902256, gene PQBP1 (polyglutamine binding protein 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCCACTGCACTCCAGCCTGGGCAACAGAGAAAGACTCCATCTCAAAAAAATAAAACTGGCAATGATCATTGATTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTA... | GCCACTGCACTCCAGCCTGGGCAACAGAGAAAGACTCCATCTCAAAAAAATAAAACTGGCAATGATCATTGATTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTA... | benign | 334,061 |
Variant at chromosome X, position 48902386, gene PQBP1 (polyglutamine binding protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | GGCTGGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAA... | GGCTGGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAA... | pathogenic | 334,064 |
Assess the variant on chromosome X, position 48902390, impacting PQBP1 (polyglutamine binding protein 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['PQBP1-related_disorder', 'Renpenning_syndrome'] | GGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGA... | GGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGA... | pathogenic | 334,065 |
Does the genetic variant at chromosome X, position 48902390, impacting gene PQBP1 (polyglutamine binding protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Delayed_speech_and_language_development', 'Hyperactivity', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Microcephaly', 'Renpenning_syndrome'] | GGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGA... | GGAGTGCAGTGGTGCAGTCTTGGCCCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACCACAGGCGTGCTCCACTGTGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGATTTTCTTTTAAGCCTATTGAATGACCTGTGCCTATGGTATATATATTATTTATTATTTGTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATAATAGCTCACTGCAAGCTCAAAGTCCTGGGCTCAAATGA... | pathogenic | 334,066 |
Considering the variant on chromosome X, location 48902776, involving gene PQBP1 (polyglutamine binding protein 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATAC... | TTTTTTTTGTAGAGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATAC... | pathogenic | 334,070 |
Mutation at chromosome X, position 48902788, within PQBP1 (polyglutamine binding protein 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Renpenning_syndrome'] | AGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTC... | AGACAGGGGTCTCACTATGTTGACCAGGCTAGTCTCACAGACGGGTTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACTTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCTGGCCAAGATGAGTAAATTTTTTGATGAATCCCTATCAACTCTGAAACCAGATAGCTTTGGCTAACAGTAGAACTCATCATCTGAACCCAGACACAGATTTAGGTAACCTTTTTTTGTAAACCTCCTAATATAGAGAGTTGGATTTGGAATGTGAAAGATACTTCATATTCTTC... | pathogenic | 334,072 |
Is the genetic variant on chromosome X, position 48904839, gene SLC35A2 (solute carrier family 35 member A2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTT... | CCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGTGGACACCATCCTCCGGCCTCCTTCCTCCATTCCTCATTGGGACCAGGTGGGCTGTGTCCGCCACATCACCCATCCCCATCCCCTGACTCTTTCACCGGCAGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGAAGCTTCGGCCTCCCTGGCCCTGGGTT... | benign | 334,081 |
Does the variant impacting SLC35A2 (solute carrier family 35 member A2) on chromosome X, position 48905273, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['SLC35A2-congenital_disorder_of_glycosylation', 'non-lesional_focal_epilepsy'] | AGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCG... | AGATAGTGTGGAGCTGGCAGGGGCTGGGGGGCTGAGCTGAGGTGGGTCATGAGAGAGCTTAGTCATGTTGGCCCTGGGTGGGGCAGGGGTGGTGGGGACAGGGAGTCCAGTGTCTACCTCACTCTACCCCTAATACTGATCAGAGTTTGGTCCCAGCTGGGCCAAGGGCAAGAAGAGAGAACGAGGCCAGGCCAATGTCTTCAATCCCAGCGGCTAGGAACCCTTCACCTTGGTGAGCAACCTGTGGTGGGAATGGGGAGGAAAGAAAAACACAAAGCTGGGCTAGGCTGGCAGGCGGGTTTCCTGAGCAAGTGAGGGCG... | pathogenic | 334,094 |
Benign or pathogenic: chromosome X, position 49074880, gene WDR45 (WD repeat domain 45) variant? Disease(s) if pathogenic? | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | CCCCTCCTTTCCTCCTTGTCAATTCCACTGTCCTGTCTTCCTCAGGTCCCCGCTTCAGGCCCTCCCATCCTGCTAGACACTCCCCACACCCCCGGGCTCCCAACACTTCCCTGGACTTTCCTTCCGACTCTGCCCCCGTAGGGCCCCTCATCAGCCTGCCCGCAAGCTCCCCCTTTAACACCAGCCCCTGCAAATCCCTCTTTCAGGCCTTCTGTCTTCACACGTTCCCCTCTCCCCAGGCCTAGGGTCCTTATAGAACCGCCCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCC... | CCCCTCCTTTCCTCCTTGTCAATTCCACTGTCCTGTCTTCCTCAGGTCCCCGCTTCAGGCCCTCCCATCCTGCTAGACACTCCCCACACCCCCGGGCTCCCAACACTTCCCTGGACTTTCCTTCCGACTCTGCCCCCGTAGGGCCCCTCATCAGCCTGCCCGCAAGCTCCCCCTTTAACACCAGCCCCTGCAAATCCCTCTTTCAGGCCTTCTGTCTTCACACGTTCCCCTCTCCCCAGGCCTAGGGTCCTTATAGAACCGCCCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCC... | pathogenic | 334,118 |
Is the genetic mutation found on chromosome X at position 49075140, within the gene WDR45 (WD repeat domain 45), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | GCCCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCA... | GCCCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCA... | pathogenic | 334,122 |
Does the chromosome X mutation at position 49075142 within gene WDR45 (WD repeat domain 45) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | CCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAAT... | CCTCCAGGCTCCCATTTCCCTATAGATTCCTCCCTCCATCATTGCTAGGACCTCTTCCAGGTCGTCAGCCCCACTCTGAACTTTCAGCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAAT... | pathogenic | 334,123 |
Located at chromosome X position 49075228, the variant affecting gene WDR45 (WD repeat domain 45)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Neurodegeneration_with_brain_iron_accumulation_5'] | GCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTC... | GCACTGCTCAAGTCCTTCCTCCAGATTCTCCATCCCTCTCTGGTCTCAGGCTTTCCAACCATGGATCCTCCTCCTGGGCCCAAGTTCCCCAACAGGTACCTGCCCCTGGCGCCTTCCAATCATAGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTC... | pathogenic | 334,128 |
Clinical significance of chromosome X, position 49075351, gene WDR45 (WD repeat domain 45): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTC... | AGCCAGGCTCCCCTCCAAGACCGGATCCCCAATAAATACATCTTCCAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTC... | benign | 334,134 |
For chromosome X, position 49075396, gene WDR45 (WD repeat domain 45): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | CAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCC... | CAAACCCTCCAACTTTACCGTCTATTTCCCGGTCTCTGCCCTAAGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCC... | pathogenic | 334,141 |
Gene mutation in WDR45 (WD repeat domain 45) at chromosome X, position 49075439—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Neurodegeneration_with_brain_iron_accumulation_5'] | AGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTG... | AGTACTCCAGGGTCGGCCTCAATCTGGCCCCATCATTCACATCACACCCCCCCTACGCCCCTCAAGTACTCTCATGTCCCCCTTTCGGGCCCTCCTTTTTTTCCGGTTCACCTTCCAGCCCACTTTCCCCTTCAGTCCCACACTTGTCTCCATCCTCCCCATATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTG... | pathogenic | 334,143 |
Is chromosome X, position 49075601, gene WDR45 (WD repeat domain 45) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | ATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGT... | ATCTTCCTTGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGT... | pathogenic | 334,147 |
Variant at chromosome position 49075609, chromosome X, gene WDR45 (WD repeat domain 45): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | TGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACG... | TGCAGACCCCCATCCCCCGCAGGCCCTCCTCATCAGCCAGGCTCCATCTCCCTGAGGCCCTCCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACG... | pathogenic | 334,148 |
Clinically, how would you classify the variant at chromosome X, position 49075670, gene WDR45 (WD repeat domain 45): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | CCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAA... | CCTTATAACTAGGCTCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAA... | pathogenic | 334,149 |
Evaluate this variant at chromosome X, position 49075684, gene WDR45 (WD repeat domain 45): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | TCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGG... | TCCACCTCCTTCAAGGCCCCCCTTCCAAGCCCCTCAGGCCGTCCATCTCTACTGACTTCGCCCTTCCCGGCCTTGCACCCCCCTCAGGTTCCCCGTCCTGGTCCTCAAAGACCTGTGGGTCTACCCCCACGCTCTGCAGACGTCCCTGGCCAACCGGCGCCTCCCTCCCTCACCCGGCGAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGG... | pathogenic | 334,150 |
Mutation at chromosome X, position 49075862, within WDR45 (WD repeat domain 45): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | GAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGG... | GAGAGCGAGGCCGATGCCGAAGCAGAGAAGGTAGTTGGTTTGGTAGTAGAGGAGGTTGTTGATGACGCGGTGGCACCATCGCTGCGGGTCGCATGGATCCGGAGCCGCCAGACGCGCCGACCCCAGAACAAAGTCGTCCAGGGCGCGTAGCGGTGGCAGCCGCACCTCCGACATCCTGCCGGTTAATGTGGCTGGACCAGCCAGGAGGGGGCCGGACTACAACAACCGTTACGCCCCTCGCCACCGCGGGGCACACCGGGAAATGGAGTCTGGGCTGGGCAGCTTTTTCCTAACCTCCTAGGTGGATTGCGCAGGGGCGG... | pathogenic | 334,156 |
Gene WDR45 (WD repeat domain 45) variant at chromosome X, position 49076449—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | CCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTG... | CCAGGAAACTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTG... | pathogenic | 334,164 |
Variant chromosome X, position 49076457, gene WDR45 (WD repeat domain 45): benign or pathogenic? Disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'Neurodegeneration_with_brain_iron_accumulation_5'] | CTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTC... | CTCCATGCCCCGCCCCTGAGGTCAAGCCGTAAATGCCATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTC... | pathogenic | 334,165 |
Considering the variant on chromosome X, location 49076493, involving gene WDR45 (WD repeat domain 45), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation_5'] | CATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGT... | CATTAAGGGCCTTTTATTCGTATTCATCACATCGGAGATCATCTCTTCCTAGGAAGCTTTTAAAAAATCCCCAGGTTGGATTAGGGCACTCCCTCTGGGTCCCTGGCAATTTCCTCCAGGTTAGGGATCCCAAGGGGTCGCTGCCTTCCTGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGT... | pathogenic | 334,167 |
Considering the variant on chromosome X, location 49076642, involving gene WDR45 (WD repeat domain 45), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGC... | TGGGTCTCTGGCCTGGCCCTTGGGGCACACAGTCATCAAGAAGTGCTGGGGGGAAGTGAGCTCTTTATTTAGACATAGCTCTGCTGAGTGGAAAGTGGGCACCAGCCCCATTAATGCTTGCTGGCTGGTGGCTTCCAAGCACGCCCCACTGCCAAGGCTCAGCTCTGCAGTTCTGCCACTGCAGGTCCCTAGCACAGCCCCCAGGGTCCTTAAAAGTCATCATCATCACAGATGTCAAGGTACACGTCGAAAGCCTCTCTGTTGCAGTTTCCATCAGGAGTGAAGACATATTTGTGGAAGGTCCCATCTACGCAGATGGC... | pathogenic | 334,171 |
Evaluate if the mutation on chromosome X at position 49208632 in CACNA1F (calcium voltage-gated channel subunit alpha1 F) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | TGGCGCTGCAGACACTGGATGGTGAAGGAGGGCTTCCGACCTGGGGGTGGGTGGGGCACCAGGGGCAAATAGCAATGTCAGTGCTTCCCCAGATCTCTGTCCTGCAGGCCCGTGGGGGCCCCTTGGATCCATCCCTGCTCTCACCTGCAGGTGTGGGGGGCAGCAGACGGCGGCGTGGTACCAGGTGCCCATCCATGTATCTCTGAGCTCTGTGAGGTGGCAAAAGGACTGAGCACGGGGGAGTCCCTGCCTGCTCATCTAGGTAGGAAAGCCTGTGTGGGTGGGAGGGCCAGGGGTGAACTTGGGTCTGGGCCTGGACC... | TGGCGCTGCAGACACTGGATGGTGAAGGAGGGCTTCCGACCTGGGGGTGGGTGGGGCACCAGGGGCAAATAGCAATGTCAGTGCTTCCCCAGATCTCTGTCCTGCAGGCCCGTGGGGGCCCCTTGGATCCATCCCTGCTCTCACCTGCAGGTGTGGGGGGCAGCAGACGGCGGCGTGGTACCAGGTGCCCATCCATGTATCTCTGAGCTCTGTGAGGTGGCAAAAGGACTGAGCACGGGGGAGTCCCTGCCTGCTCATCTAGGTAGGAAAGCCTGTGTGGGTGGGAGGGCCAGGGGTGAACTTGGGTCTGGGCCTGGACC... | pathogenic | 334,211 |
Variant at chromosome X, position 49211319, gene CACNA1F (calcium voltage-gated channel subunit alpha1 F): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Aland_island_eye_disease'] | TTCCAAGTCCTTTTCATCTTCCTCCTCCACTCCCTCCTGCCCCTCTTCTTCCTCCTCCTCTGTGTCACAGGTGAGGGCCTGCCGCATCTCAGGACCCAAGTCCTGCAGGCTCCGCAGACCAGCCTGTGGGGGTGGAGAAATAGGTAAGCAGGCAGCTCAGGGTCTGAACTTTCCCTCTGTTTCCCCTGCAGGCGGGTAGGGTGGGGGAAGGAGTCCTTCAGCCACCCTGGCCCTCCGTGAGGCCTGGGGCCTCAGTTTCCTTATCTGTGACATGGGTTTCACAAGATCAAAATGGGGGTCAGCCTCAGCCACAGCACTGC... | TTCCAAGTCCTTTTCATCTTCCTCCTCCACTCCCTCCTGCCCCTCTTCTTCCTCCTCCTCTGTGTCACAGGTGAGGGCCTGCCGCATCTCAGGACCCAAGTCCTGCAGGCTCCGCAGACCAGCCTGTGGGGGTGGAGAAATAGGTAAGCAGGCAGCTCAGGGTCTGAACTTTCCCTCTGTTTCCCCTGCAGGCGGGTAGGGTGGGGGAAGGAGTCCTTCAGCCACCCTGGCCCTCCGTGAGGCCTGGGGCCTCAGTTTCCTTATCTGTGACATGGGTTTCACAAGATCAAAATGGGGGTCAGCCTCAGCCACAGCACTGC... | pathogenic | 334,215 |
Determine whether the variant at chromosome X, position 49216484, in gene CACNA1F (calcium voltage-gated channel subunit alpha1 F) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CACNA1F-related_disorder', 'Congenital_stationary_night_blindness_2A', 'Retinal_dystrophy'] | GTTCTTGATTACTAGCTTTTCTTGTAGTTAGGCAAGGCCAGGTTGACTAGTGAGACATAAACATAAATCTGCTGTTGGTTAGCAGCTTGTGTAAAAAAAATTTTGCTTTCCGATGAAAGGATCAAATAAGGAGAGGCCCCAGGTGCAGCTCTCCCTGCCTTGAGTGTGGTTTTGATGCCTGGAGCTGTGATCATGAAACAACAATCATGAAAATGAATGCCAACTTGCTAAGAATGGTGAAGCAGAAAGATAGAGCATGGGTCCCGGATGAACAATGAACAAACAGCCTACCTCTGCACTTCTCAATACATGAGGTAATT... | GTTCTTGATTACTAGCTTTTCTTGTAGTTAGGCAAGGCCAGGTTGACTAGTGAGACATAAACATAAATCTGCTGTTGGTTAGCAGCTTGTGTAAAAAAAATTTTGCTTTCCGATGAAAGGATCAAATAAGGAGAGGCCCCAGGTGCAGCTCTCCCTGCCTTGAGTGTGGTTTTGATGCCTGGAGCTGTGATCATGAAACAACAATCATGAAAATGAATGCCAACTTGCTAAGAATGGTGAAGCAGAAAGATAGAGCATGGGTCCCGGATGAACAATGAACAAACAGCCTACCTCTGCACTTCTCAATACATGAGGTAATT... | pathogenic | 334,230 |
Benign or pathogenic: chromosome X, position 49219765, gene CACNA1F (calcium voltage-gated channel subunit alpha1 F) variant? Disease(s) if pathogenic? | benign | TCCTGAGCTCCGTGGACGGCAGGGTCTTGGGCACTCACTTGCATTCTTGAGGGGTGTGTTTGGCCTCGTCCGTGCAGGTGTAGAATTTCCCCTGTAGAGAGGATGTCTGTCAAGTAGGTTCACCCTTCATCACACTCCCGCCCAGACCCCTGCCTGGCATTCCCTCCAGTGTTTGCCCCACCTTGAAGAGCTGCACCCCGATGCAGGCGAACATAAATTGCAGAAGTGTGGTGACAATCATGATGTTTCCGATGGTCCGGATGGCCACAAATACACACTGCACCACATGCTGCGGGCACCCAAGCATATGGCTACTGAAC... | TCCTGAGCTCCGTGGACGGCAGGGTCTTGGGCACTCACTTGCATTCTTGAGGGGTGTGTTTGGCCTCGTCCGTGCAGGTGTAGAATTTCCCCTGTAGAGAGGATGTCTGTCAAGTAGGTTCACCCTTCATCACACTCCCGCCCAGACCCCTGCCTGGCATTCCCTCCAGTGTTTGCCCCACCTTGAAGAGCTGCACCCCGATGCAGGCGAACATAAATTGCAGAAGTGTGGTGACAATCATGATGTTTCCGATGGTCCGGATGGCCACAAATACACACTGCACCACATGCTGCGGGCACCCAAGCATATGGCTACTGAAC... | benign | 334,240 |
A genetic variant at chromosome X, position 49228310, affecting gene CACNA1F (calcium voltage-gated channel subunit alpha1 F)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cone-rod_dystrophy', 'Congenital_stationary_night_blindness'] | GGGAGGTGTGTGTCGTAAAGGGCAGAAGGGGTGTCAGTGACTGGGGCCAGAGGTCAAGGACTGAGATCGAGGCTTGAGGCTAAAGAAAGGACTTGAGTCAGGGTTTGGACTGGCTTCTGGGCTGGGTCAGGGGCTGGGGGCCCTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCCTCCTCATCCTCATCGCCTTGGGTCTCTGTCATGGAACCGGTGTCACTGGCTGGGAGGCTGGCTGTAGGCAAGGTGGGGATAGTGGTCAGGACCTGAAGACCCCGAGGTCCAATCTTTGGCTTTCACCTCTGCCTACCCAC... | GGGAGGTGTGTGTCGTAAAGGGCAGAAGGGGTGTCAGTGACTGGGGCCAGAGGTCAAGGACTGAGATCGAGGCTTGAGGCTAAAGAAAGGACTTGAGTCAGGGTTTGGACTGGCTTCTGGGCTGGGTCAGGGGCTGGGGGCCCTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCCTCCTCATCCTCATCGCCTTGGGTCTCTGTCATGGAACCGGTGTCACTGGCTGGGAGGCTGGCTGTAGGCAAGGTGGGGATAGTGGTCAGGACCTGAAGACCCCGAGGTCCAATCTTTGGCTTTCACCTCTGCCTACCCAC... | pathogenic | 334,258 |
Gene mutation in FOXP3 (forkhead box P3) at chromosome X, position 49255491—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Insulin-dependent_diabetes_mellitus_secretory_diarrhea_syndrome'] | ATGCAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTT... | ATGCAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTT... | pathogenic | 334,292 |
For chromosome X, position 49255494, gene FOXP3 (forkhead box P3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Insulin-dependent_diabetes_mellitus_secretory_diarrhea_syndrome'] | CAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTG... | CAAGAGGTTAAATGGCAGAGCCAGGATGACAGTCAAGGTCTCTGATCCCTGCTAAGCCCACAGGCCAGGCCTGGTGGAGAGCAGTGGATAGGTGAGCTCGGGCGAATCCACCCCGATTTTCCTTGGTCAGGGGAGGAAAGGAGGTGCTCCTGGAATTACTTAGCAGGGTCCCTCCCTTCTGATGGCCGAATATAGTAGCTGGAGTCCAGAGTGGGTGAGGCATGGCCCCAATCCCCAAGGGAGTCAGGGCTAGGGGCCCGACACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTG... | pathogenic | 334,293 |
Chromosome X, position 50072497, gene CLCN5 (chloride voltage-gated channel 5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases'] | ATCTTCCTTTCCCATATAATCTCTCTTTTATGGTTTTTTCCTTAATGCAGGATATTCATAACTAAGAAAAGTAAATGGTTTTCTGTTAAAGGAATAAAAGAAAAAAATCTCAGAGCCCTAGTGTTTACTGAAGCATACAAAGTAAACTCCTTGTGATTATTGATCTTGTACAACCATAAAACCAAAGTAAACTTATGCTTTCAACTCCAACAAAACCACAAGACCAGTTAAATTCAAACTGGGGACATTAACTTAATGTGATAGGTAATAGATGGTACTTATGGCTATGGCACAGGTTCTTTTGAATTTAGCAAGAGAAT... | ATCTTCCTTTCCCATATAATCTCTCTTTTATGGTTTTTTCCTTAATGCAGGATATTCATAACTAAGAAAAGTAAATGGTTTTCTGTTAAAGGAATAAAAGAAAAAAATCTCAGAGCCCTAGTGTTTACTGAAGCATACAAAGTAAACTCCTTGTGATTATTGATCTTGTACAACCATAAAACCAAAGTAAACTTATGCTTTCAACTCCAACAAAACCACAAGACCAGTTAAATTCAAACTGGGGACATTAACTTAATGTGATAGGTAATAGATGGTACTTATGGCTATGGCACAGGTTCTTTTGAATTTAGCAAGAGAAT... | pathogenic | 334,322 |
Benign or pathogenic: chromosome X, position 50081756, gene CLCN5 (chloride voltage-gated channel 5) variant? Disease(s) if pathogenic? | pathogenic | AAGATGTAGTTATATGTGGACTCTAAAAAAGAAAGTTGAGTAAACAGAACCAGAGAGCAGAATGGTGGTTACCTGGGGCATGGAGGAGGAGGAAATGGGGAGAAGTGGACCAAAGGGTACAAATTTGCAGTGAGGTAGGGTGAATAAGTCTAGAGAGGTAATGTACAGTAGAGTTAATAATGCTGTATACTAAAAATTTGCTAAGAGTATATTTTAGATGCTCTTACCACACATACAAAGAAAGGTAACTATGGAAGGTGATATGCATGTAAGTTTATTTCAATGTAGTAACAATTTCGCTATATGTATATATATAAAAC... | AAGATGTAGTTATATGTGGACTCTAAAAAAGAAAGTTGAGTAAACAGAACCAGAGAGCAGAATGGTGGTTACCTGGGGCATGGAGGAGGAGGAAATGGGGAGAAGTGGACCAAAGGGTACAAATTTGCAGTGAGGTAGGGTGAATAAGTCTAGAGAGGTAATGTACAGTAGAGTTAATAATGCTGTATACTAAAAATTTGCTAAGAGTATATTTTAGATGCTCTTACCACACATACAAAGAAAGGTAACTATGGAAGGTGATATGCATGTAAGTTTATTTCAATGTAGTAACAATTTCGCTATATGTATATATATAAAAC... | pathogenic | 334,327 |
Determine if the mutation at chromosome X, position 50086638 in gene CLCN5 (chloride voltage-gated channel 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Dent_disease_type_1'] | CCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATT... | CCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATT... | pathogenic | 334,339 |
Regarding the variant found on chromosome X at position 50090142 in gene CLCN5: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | TGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGG... | TGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGG... | pathogenic | 334,348 |
A genetic variant at chromosome X, position 50090430, affecting gene CLCN5—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Dent_disease_type_1', 'Proteinuria,_low_molecular_weight,_with_hypercalciuria_and_nephrocalcinosis'] | CTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCC... | CTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTCTTTGCAGTCGTCCTTGCCTGCACGTCCCAGAGAACCTCTAGTCCCTGTAGTGTTACACACACCTTTACAGCCACTTGCTAGCATAGTGCATAGTTAAATTGTCATCGGCCTGTTTGCTTTGCAGAGGGTCAGTCCTCCAGCCCTTACCATGTGCCAAGCAATCACATCATTTCTCACTAACCATCTATTGGTTTCTCTTTGCAGATCC... | pathogenic | 334,350 |
Chromosome X, position 50607728, gene SHROOM4 (shroom family member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GCCTAGGAAGGCAAAATAAGCATGGGCTTTGGAGTCAGACAGCTCTGGCTTTGAATGTTTGCTGTGTAACTTGGAATTAGTTAGTTTCCTCATCTGTCAAATGGGGATAATAATGGCTAATAGGGCTATTGGGAGGATTAAATGAAATAGATACATAATGTCTGGCAGTGTCTGGTATATAAGAAATACTTAATAAATGTTCATCCATTCATTTATTTGTTCTTTCTTCTTAAATATTTGTTAAGTGCCTACTATTGGGAGGTCATTTTCCCTTTTCCCTGCTATGATAGATAACAATCACAGGTATTTTTCACAAAATG... | GCCTAGGAAGGCAAAATAAGCATGGGCTTTGGAGTCAGACAGCTCTGGCTTTGAATGTTTGCTGTGTAACTTGGAATTAGTTAGTTTCCTCATCTGTCAAATGGGGATAATAATGGCTAATAGGGCTATTGGGAGGATTAAATGAAATAGATACATAATGTCTGGCAGTGTCTGGTATATAAGAAATACTTAATAAATGTTCATCCATTCATTTATTTGTTCTTTCTTCTTAAATATTTGTTAAGTGCCTACTATTGGGAGGTCATTTTCCCTTTTCCCTGCTATGATAGATAACAATCACAGGTATTTTTCACAAAATG... | benign | 334,379 |
A genetic variant on chromosome X, position 50916210, affects the gene BMP15 (bone morphogenetic protein 15). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATG... | GGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATG... | benign | 334,401 |
Benign or pathogenic: chromosome X, position 53194975, gene KDM5C (lysine demethylase 5C) variant? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Rare_genetic_intellectual_disability', 'Spastic_paraplegia', 'Syndromic_X-linked_intellectual_disability_Claes-Jensen_type'] | GGGGGGTCTCTGTCAGGGTCTGTGCTAGGCTCAGCCACTGTCACAACTGTTGCTGAGGCGGCTGCTGTGGGCAGGGCAGATGCAGCCGGGGAGTCAGAGTGGAGAAAGGGGCCGAGGGGCCTGAAGTGGTCCCTTCCGCCGGTTCCAAGCCATTCTGGTTCTCCTGGGTGCTGGGGCTGCCAGTGGTGGGGATGGGTGCAGGGGGGCCCTCACCCCCAGTCTCCTCCTCCAGCTCTTCCTCCTCCTGGACCTCCTCAGCCTCTGGCCCTGAGCTCCGTACCCTCTTTGGCTCTAGCTCCTCTCGGGCTGGGTCATCGCCC... | GGGGGGTCTCTGTCAGGGTCTGTGCTAGGCTCAGCCACTGTCACAACTGTTGCTGAGGCGGCTGCTGTGGGCAGGGCAGATGCAGCCGGGGAGTCAGAGTGGAGAAAGGGGCCGAGGGGCCTGAAGTGGTCCCTTCCGCCGGTTCCAAGCCATTCTGGTTCTCCTGGGTGCTGGGGCTGCCAGTGGTGGGGATGGGTGCAGGGGGGCCCTCACCCCCAGTCTCCTCCTCCAGCTCTTCCTCCTCCTGGACCTCCTCAGCCTCTGGCCCTGAGCTCCGTACCCTCTTTGGCTCTAGCTCCTCTCGGGCTGGGTCATCGCCC... | pathogenic | 334,436 |
The mutation impacting KDM5C (lysine demethylase 5C) on chromosome X at position 53197882: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCTTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGT... | AGCAACCCAGCACATCCCAGTGTATATGCCATCTCTTCCCAGCTGGACTGAAGGCCTGGGGTGGGAGTGGCAGGGTCCTCACTTGGATCTCATCAACATCAGCAATCCAGGCCCGGGCCTTAGCAAGAGCCTCCTTGAGAGCCTGGATGTTGGGCAGGTGAACAGGGATGTTTTCCGCTTCACGGATTATGGCCTCAAGTGTGGCTGGTGGATGCTTCTGCCTAAAGGTAAGGAAAAAAAGAACGCTCAGTCTGATGTGGTCTGCCTGACCAGAAGCCCAGCCTGACCACCAGATATATCTGCATGGGCCCCTTGGGTGT... | benign | 334,450 |
A mutation at chromosome position 53214835 on chromosome X in gene KDM5C (lysine demethylase 5C): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Spastic_paraplegia', 'Syndromic_X-linked_intellectual_disability_Claes-Jensen_type'] | GGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAGACTGTCTCAGAAGATAGGATG... | GGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAGACTGTCTCAGAAGATAGGATG... | pathogenic | 334,474 |
Is chromosome X, position 53215950, gene KDM5C (lysine demethylase 5C) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Syndromic_X-linked_intellectual_disability_Claes-Jensen_type'] | ACAATGGTTATCACTGGGTGGTGGGAACACAAGTAATTTGCCTATTTTCCAAAATGTCTTTTTTTTTTTTGAAGACAGGGTCTCATTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCACACTGCAACCTCCGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGCAGCTGGGACAACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATCTTTTTTGGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAACGATCCGCCCACCTCAGCCTCCCAAAG... | ACAATGGTTATCACTGGGTGGTGGGAACACAAGTAATTTGCCTATTTTCCAAAATGTCTTTTTTTTTTTTGAAGACAGGGTCTCATTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCACACTGCAACCTCCGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGCAGCTGGGACAACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATCTTTTTTGGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAACGATCCGCCCACCTCAGCCTCCCAAAG... | pathogenic | 334,477 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 53234266, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): what disease(s) if pathogenic? | pathogenic; ['Intellectual_disability,_X-linked_1'] | GCCTGTCCCCTTCTCTGTAAACGAAAGGGAGTCCAGCTCTTTGTTATCTGACATCCTAAGTGTATATGCAGAACTCTTAAAATGTATCTAGCCCTGTGCCTTCCAAATCACTCCCCTACCCTCAAGGATAGAAATGTGGCCAGCCATTGTGGGGATGAGGAGGAGCTCCAAGGCCAGGCCAGGCCAGCCACATCCAGGGTGAGAGGAGATGCCCCAAGAGTGGAAGGAAGCATTCATCCTATGAAACGAAGACAAGGGAACTAACTTGCTCAGCTCTGTCCTGGCTCCTTGGCACCCATTACCCCTGGGAATCATCATAT... | GCCTGTCCCCTTCTCTGTAAACGAAAGGGAGTCCAGCTCTTTGTTATCTGACATCCTAAGTGTATATGCAGAACTCTTAAAATGTATCTAGCCCTGTGCCTTCCAAATCACTCCCCTACCCTCAAGGATAGAAATGTGGCCAGCCATTGTGGGGATGAGGAGGAGCTCCAAGGCCAGGCCAGGCCAGCCACATCCAGGGTGAGAGGAGATGCCCCAAGAGTGGAAGGAAGCATTCATCCTATGAAACGAAGACAAGGGAACTAACTTGCTCAGCTCTGTCCTGGCTCCTTGGCACCCATTACCCCTGGGAATCATCATAT... | pathogenic | 334,496 |
For chromosome X, position 53234266, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Intellectual_disability,_X-linked_1'] | GCCTGTCCCCTTCTCTGTAAACGAAAGGGAGTCCAGCTCTTTGTTATCTGACATCCTAAGTGTATATGCAGAACTCTTAAAATGTATCTAGCCCTGTGCCTTCCAAATCACTCCCCTACCCTCAAGGATAGAAATGTGGCCAGCCATTGTGGGGATGAGGAGGAGCTCCAAGGCCAGGCCAGGCCAGCCACATCCAGGGTGAGAGGAGATGCCCCAAGAGTGGAAGGAAGCATTCATCCTATGAAACGAAGACAAGGGAACTAACTTGCTCAGCTCTGTCCTGGCTCCTTGGCACCCATTACCCCTGGGAATCATCATAT... | GCCTGTCCCCTTCTCTGTAAACGAAAGGGAGTCCAGCTCTTTGTTATCTGACATCCTAAGTGTATATGCAGAACTCTTAAAATGTATCTAGCCCTGTGCCTTCCAAATCACTCCCCTACCCTCAAGGATAGAAATGTGGCCAGCCATTGTGGGGATGAGGAGGAGCTCCAAGGCCAGGCCAGGCCAGCCACATCCAGGGTGAGAGGAGATGCCCCAAGAGTGGAAGGAAGCATTCATCCTATGAAACGAAGACAAGGGAACTAACTTGCTCAGCTCTGTCCTGGCTCCTTGGCACCCATTACCCCTGGGAATCATCATAT... | pathogenic | 334,497 |
Evaluate the clinical significance of the mutation at chromosome X, position 53234646 in gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Intellectual_disability,_X-linked_1'] | GGGTGACTCTCCCGAATTCACATGCCTAGGAAGTGAAAACCCCAGGATGTGAACTGGATCAACTCCAAAGCCCATACTCTTGCCACTCTGTCGCACAAACTGTGTATGAAATGAGATAGGAAAACCTCCCTCACTCCCACCTCCCTCCAAGCAAAGCATCTCGTCCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTA... | GGGTGACTCTCCCGAATTCACATGCCTAGGAAGTGAAAACCCCAGGATGTGAACTGGATCAACTCCAAAGCCCATACTCTTGCCACTCTGTCGCACAAACTGTGTATGAAATGAGATAGGAAAACCTCCCTCACTCCCACCTCCCTCCAAGCAAAGCATCTCGTCCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTA... | pathogenic | 334,506 |
Evaluate if the mutation on chromosome X at position 53234810 in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Intellectual_disability,_X-linked_1'] | CCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGG... | CCACCCAGGTGCCTGAATTTCTACCATTAGCGCATTGCCTCCCTGGGCTAAGGCCTCTCTCCATGGGCTCCACAGTGGGGAAGGGGCGCAGAAGTAGGAGGCAGAGGCAGGAGGTGAGCACAAGGTCTTTTATGAGGCATCAAATATACATTCTTATATACAAGGAGGAAAAAAGACAATGCCTGAACCCCAGCTCCTCTCCATACAGCCCCTCCCACTGCCACCCTCCCCCGCCCCCAAGCCCCAGTGGCCCTGGCCCTTCGTACAGCCAGGGTCCATCTGTCTGTCTATACTGCAGCCCATGGTGGAGAGGGGAGAGG... | pathogenic | 334,511 |
Variant chromosome X, position 53250899, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? Disease(s)? | pathogenic; ['Intellectual_disability,_X-linked_1'] | CGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGA... | CGATCAGATACTGGATACCCTTCTCTGGCTTCCTGCAGAAAGAGGAGAGGTAGATGAGATGACTGTCCTCCTGGAACTGTGCTCTCTGTCTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGA... | pathogenic | 334,579 |
Is the variant located on chromosome X at position 53250988, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Intellectual_disability,_X-linked_1'] | CTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTA... | CTCATTTGTTGAACTAATTTTGGGCCCAACTAAGTCCGGCCTCAGAGGACCAACGAAGTCAAATACATAATTTGATCCAATCCCATCATGGCACAAGTGAGAAAACTGAGGCCCAGGGAGAAGAAGCCACTTGCCCATTTCAAGGAGCTTCAAAATCCCAAGGTATCTTCAACCCAACATCCCCCTTCACTGGAGCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTA... | pathogenic | 334,585 |
Benign or pathogenic: chromosome X, position 53251182, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) variant? Disease(s) if pathogenic? | benign | GCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGG... | GCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGG... | benign | 334,590 |
Evaluate this variant at chromosome X, position 53251182, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGG... | GCCACATCACAATTGAAAGAAAATCAGTATCTAATGAGAGCCTGCTCTATGCCAGGCTTGACATTCCCAGCAAGAACCGAGGAGAGGGCTGAGCACCTTCCCTCTGAGTCACAGACCCTCAGAGTAGGGAAGAAGTGAAGAGGTTACTTTGTTCCACGTCCCACATCCCACTCAGGCAGGTATCACCAACTTTCTCTGAGTGTTTCTGTAGACAAGGTGCCCCCTAGATTTCCAGGGAGCTGGGCCAAAATCTGGGTCACAGCTATCCCATATTCAGAACCCCAGAACCTTAGGACCCCACAAGGTTAAAATTTGGAAGG... | benign | 334,591 |
Assess the variant on chromosome X, position 53255944, impacting IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Intellectual_disability,_X-linked_1'] | GAGTTAAGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCA... | GAGTTAAGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCA... | pathogenic | 334,604 |
Clinically, how would you classify the variant at chromosome X, position 53255950, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_X-linked_1'] | AGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACT... | AGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACT... | pathogenic | 334,605 |
Considering the variant on chromosome X, location 53255950, involving gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Intellectual_disability,_X-linked_1'] | AGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACT... | AGCTTTATTTTATAGTAGATCAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACT... | pathogenic | 334,606 |
Regarding the variant found on chromosome X at position 53255970 in gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Intellectual_disability,_X-linked_1'] | CAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGA... | CAAGTTCCAAGTAGTGAGAACTTTTTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGA... | pathogenic | 334,608 |
Evaluate this variant at chromosome X, position 53255994, gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_X-linked_1', 'Severe_intellectual_deficiency'] | TTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAG... | TTTCTTATTTGTTCTATACACCCATACATATTTTTTCCCACAAGAAGGGAACGACATGGAACACCCATATTTATAACTTGCTTGTTTTAACAATGTAATTTCTGGCCGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTCCGGAGGTGATGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGTCACATACCTGCAATCCCAGCTACTCGGGAGAGTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAG... | pathogenic | 334,609 |
Clinical classification of chromosome X, position 53394857, gene SMC1A (structural maintenance of chromosomes 1A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Congenital_muscular_hypertrophy-cerebral_syndrome', 'Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects'] | GAGATTACAGGCATGAGCCACTGTGCCCGGCCCTAAATATCTATTGAATTCTGGTTTTTGTTTCCACTGTCTCTAATGCAGGACACTTTCGTCTCACATAGCCAACTACAGGAGCCTCCTAAATAGTTTATGATGTGTTTCAATCATCATATTCAGGAGGATTGGATATAGAAGCTTGATCAGATCCACGTTTGTTTTTTGGCAAGAATACTTCATAGCTAATGTTGAACACTGGTCAATGTTAACATTACAAAGAAAGTGAGAACTGACATCAGGTGTCTACTGATGTGATGTAGAAGGAAGTTCACAAGTACACAACA... | GAGATTACAGGCATGAGCCACTGTGCCCGGCCCTAAATATCTATTGAATTCTGGTTTTTGTTTCCACTGTCTCTAATGCAGGACACTTTCGTCTCACATAGCCAACTACAGGAGCCTCCTAAATAGTTTATGATGTGTTTCAATCATCATATTCAGGAGGATTGGATATAGAAGCTTGATCAGATCCACGTTTGTTTTTTGGCAAGAATACTTCATAGCTAATGTTGAACACTGGTCAATGTTAACATTACAAAGAAAGTGAGAACTGACATCAGGTGTCTACTGATGTGATGTAGAAGGAAGTTCACAAGTACACAACA... | pathogenic | 334,658 |
Assess the variant on chromosome X, position 53396232, impacting SMC1A (structural maintenance of chromosomes 1A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_muscular_hypertrophy-cerebral_syndrome', 'Developmental_and_epileptic_encephalopathy,_85,_with_or_without_midline_brain_defects'] | GAGGCAGAATCCATAGGGCTTGGTGCTTGGTAATTAATTGATTATGTAAAGTGAAAGAGGGAGAAGTCAAGGATGAGGCTCAAATTTCTGGCTGAGCATGTGAGTGGCACTGAGGAGATGGGTAAATATGGGGAGGAAGGCTAGGGCTTGAGGTACCTGTGGGACCTAGCATAGAGATTGCAGCGGAAGCCACGGAAGTAAAGTGATATCCAGGATGAAAGAATGCCAAGTGAGGAGGAAAGAGCCCTGAGGAACACCTGAGGTCAATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGT... | GAGGCAGAATCCATAGGGCTTGGTGCTTGGTAATTAATTGATTATGTAAAGTGAAAGAGGGAGAAGTCAAGGATGAGGCTCAAATTTCTGGCTGAGCATGTGAGTGGCACTGAGGAGATGGGTAAATATGGGGAGGAAGGCTAGGGCTTGAGGTACCTGTGGGACCTAGCATAGAGATTGCAGCGGAAGCCACGGAAGTAAAGTGATATCCAGGATGAAAGAATGCCAAGTGAGGAGGAAAGAGCCCTGAGGAACACCTGAGGTCAATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGT... | pathogenic | 334,659 |
Does the genetic variant at chromosome X, position 53412949, impacting gene SMC1A (structural maintenance of chromosomes 1A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Abnormal_heart_valve_morphology', 'Congenital_muscular_hypertrophy-cerebral_syndrome', 'Global_developmental_delay', 'Hirsutism', 'Hypertonia', 'Microcephaly', 'Progressive_sensorineural_hearing_impairment', 'SMC1A-related_disorder'] | TGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCCATTCCATAAAGATAATAATAAATGAAGAATTAAATGAGTGGATA... | TGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAAAAAAAAAAAAAGTAGCCAGGCATGGTGGCAAGCACAAGTAATGCTGGATACTCAGGAGGCTCTGGTTGGAAGATTGCTTAAGCCTGGGAAGTCGAAGCTGCAGTGAGCCATGGTCGCACCACTGCACCTCAGCCTGCATGACAGAGAAAGACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCCATTCCATAAAGATAATAATAAATGAAGAATTAAATGAGTGGATA... | pathogenic | 334,714 |
Variant in SMC1A (structural maintenance of chromosomes 1A), chromosome X, position 53415121—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Congenital_muscular_hypertrophy-cerebral_syndrome'] | CTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTG... | CTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTG... | pathogenic | 334,725 |
Does the variant impacting HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) on chromosome X, position 53431777, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GACACTAACCCCCTCCTAAACATTCGTACACACACAAACACAAAACTTGCTGAACAAATGGCTGGATGAGTGAAACAGGAATGGAGCAAGCCAGTACAGTACCCCGGCCATATTTCTCTGTGTAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATGATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGTATGGCCTGAGCCATGCAGTACCTTGGGCTCTCCCCAACTCCTGAACAAAATCCTGGAGAACCTTAGCCATATTC... | GACACTAACCCCCTCCTAAACATTCGTACACACACAAACACAAAACTTGCTGAACAAATGGCTGGATGAGTGAAACAGGAATGGAGCAAGCCAGTACAGTACCCCGGCCATATTTCTCTGTGTAGATGCGCTCAGTAACCAGCTGCGCCTCGCCATGGATGCACAGGCCACCCATCTGGCCAGGCTGGAGGAGTCCTGTCGTGCGGCCATGATGTGTGCCATGGCCAACGCCAACAAAGCGCAGGTATGGCCTGAGCCATGCAGTACCTTGGGCTCTCCCCAACTCCTGAACAAAATCCTGGAGAACCTTAGCCATATTC... | benign | 334,734 |
Clinical significance of chromosome X, position 53562129, gene HUWE1: benign or pathogenic? Name the disease(s) if pathogenic. | benign | AAGAACATTAAGTGATGGACTATTTCCCCCAAGGTTAAGACAATGCTAAAGCACAGTGAAAATTCTTACAAGAGCTCCGATGAATCCAACAGATCTCTGTAACTCACCTCTGCAGTATAAGAGGAGGGTTGGGCTGGCGATTCCCAGGGTAGTGAACATGAATGGTGTGGCCAGTATTGGCCGTCAGCTGCCTTAGGGTCCTCTGACTGCGCCCGATGCCCTGGGTGAGACGAGTTGTTGAAGAGCCACTGCCCAGTGTCAGAGAACTGTGGTCTGCATGGCGCACCATCAGTGGATGGGTGGTAGGGATATTTCCTGGG... | AAGAACATTAAGTGATGGACTATTTCCCCCAAGGTTAAGACAATGCTAAAGCACAGTGAAAATTCTTACAAGAGCTCCGATGAATCCAACAGATCTCTGTAACTCACCTCTGCAGTATAAGAGGAGGGTTGGGCTGGCGATTCCCAGGGTAGTGAACATGAATGGTGTGGCCAGTATTGGCCGTCAGCTGCCTTAGGGTCCTCTGACTGCGCCCGATGCCCTGGGTGAGACGAGTTGTTGAAGAGCCACTGCCCAGTGTCAGAGAACTGTGGTCTGCATGGCGCACCATCAGTGGATGGGTGGTAGGGATATTTCCTGGG... | benign | 334,820 |
Is chromosome X, position 53562129, gene HUWE1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAGAACATTAAGTGATGGACTATTTCCCCCAAGGTTAAGACAATGCTAAAGCACAGTGAAAATTCTTACAAGAGCTCCGATGAATCCAACAGATCTCTGTAACTCACCTCTGCAGTATAAGAGGAGGGTTGGGCTGGCGATTCCCAGGGTAGTGAACATGAATGGTGTGGCCAGTATTGGCCGTCAGCTGCCTTAGGGTCCTCTGACTGCGCCCGATGCCCTGGGTGAGACGAGTTGTTGAAGAGCCACTGCCCAGTGTCAGAGAACTGTGGTCTGCATGGCGCACCATCAGTGGATGGGTGGTAGGGATATTTCCTGGG... | AAGAACATTAAGTGATGGACTATTTCCCCCAAGGTTAAGACAATGCTAAAGCACAGTGAAAATTCTTACAAGAGCTCCGATGAATCCAACAGATCTCTGTAACTCACCTCTGCAGTATAAGAGGAGGGTTGGGCTGGCGATTCCCAGGGTAGTGAACATGAATGGTGTGGCCAGTATTGGCCGTCAGCTGCCTTAGGGTCCTCTGACTGCGCCCGATGCCCTGGGTGAGACGAGTTGTTGAAGAGCCACTGCCCAGTGTCAGAGAACTGTGGTCTGCATGGCGCACCATCAGTGGATGGGTGGTAGGGATATTTCCTGGG... | benign | 334,821 |
Considering the variant on chromosome X, location 53591123, involving gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AATCGAAATGTTAACTGGCTATCTGGGTGTGGGGATTTAAGGTAATTCCTTTCTTATCCCACTTCTATAATTAGCATAATTTCATAATGAGAGAAAAGAAAAAGAGGACAAATATCAGGTCACAAGTATTCATCAGGATGGGGACTCAGTTGTTCAAGCGGCTGTTACATAGGAAAAAACATTTATTCAGTATTAGTCCAGGGGACGAACCTGACTCAAGGGTGAGGCACATTTTAGACATTTTAAGAGAAAAGTAGAAAAGGAGAGCTTTGTTTTTCCCTTCTAAAGACATTTTTGTGTGTGCGATGTAGTTAACACAC... | AATCGAAATGTTAACTGGCTATCTGGGTGTGGGGATTTAAGGTAATTCCTTTCTTATCCCACTTCTATAATTAGCATAATTTCATAATGAGAGAAAAGAAAAAGAGGACAAATATCAGGTCACAAGTATTCATCAGGATGGGGACTCAGTTGTTCAAGCGGCTGTTACATAGGAAAAAACATTTATTCAGTATTAGTCCAGGGGACGAACCTGACTCAAGGGTGAGGCACATTTTAGACATTTTAAGAGAAAAGTAGAAAAGGAGAGCTTTGTTTTTCCCTTCTAAAGACATTTTTGTGTGTGCGATGTAGTTAACACAC... | benign | 334,861 |
Considering the variant on chromosome X, location 53631489, involving gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AAAAAGTCTCAAATCCAAAATACTTCTGGTCCCAAGTGTTACAGCTAAGGGTTACTCAACCTGTAAAATACTTACCATAAGCTGCTTATCCGTTATCTGAAGGACATCTACCAACTCCTCTATCAAGCCATTATACAAGATACTGTTTGCTGATTCCTGCAAGGCATTGGAATACACTGCAAAAGGAGAAACAAACACTTTAGGCAAGAAGGCAGTGGTCAAGCCACTGCCCAATAACAAACTTTTTGGTATCTATAGGTTCTGGGGAAGAATTCCATTCCCAACCAGCAATGGAGGGCAGAATCATCACCAAATTAAAT... | AAAAAGTCTCAAATCCAAAATACTTCTGGTCCCAAGTGTTACAGCTAAGGGTTACTCAACCTGTAAAATACTTACCATAAGCTGCTTATCCGTTATCTGAAGGACATCTACCAACTCCTCTATCAAGCCATTATACAAGATACTGTTTGCTGATTCCTGCAAGGCATTGGAATACACTGCAAAAGGAGAAACAAACACTTTAGGCAAGAAGGCAGTGGTCAAGCCACTGCCCAATAACAAACTTTTTGGTATCTATAGGTTCTGGGGAAGAATTCCATTCCCAACCAGCAATGGAGGGCAGAATCATCACCAAATTAAAT... | benign | 334,903 |
Variant in gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1), located at chromosome X position 53631489: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AAAAAGTCTCAAATCCAAAATACTTCTGGTCCCAAGTGTTACAGCTAAGGGTTACTCAACCTGTAAAATACTTACCATAAGCTGCTTATCCGTTATCTGAAGGACATCTACCAACTCCTCTATCAAGCCATTATACAAGATACTGTTTGCTGATTCCTGCAAGGCATTGGAATACACTGCAAAAGGAGAAACAAACACTTTAGGCAAGAAGGCAGTGGTCAAGCCACTGCCCAATAACAAACTTTTTGGTATCTATAGGTTCTGGGGAAGAATTCCATTCCCAACCAGCAATGGAGGGCAGAATCATCACCAAATTAAAT... | AAAAAGTCTCAAATCCAAAATACTTCTGGTCCCAAGTGTTACAGCTAAGGGTTACTCAACCTGTAAAATACTTACCATAAGCTGCTTATCCGTTATCTGAAGGACATCTACCAACTCCTCTATCAAGCCATTATACAAGATACTGTTTGCTGATTCCTGCAAGGCATTGGAATACACTGCAAAAGGAGAAACAAACACTTTAGGCAAGAAGGCAGTGGTCAAGCCACTGCCCAATAACAAACTTTTTGGTATCTATAGGTTCTGGGGAAGAATTCCATTCCCAACCAGCAATGGAGGGCAGAATCATCACCAAATTAAAT... | benign | 334,904 |
Chromosome X, position 53632572, gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGTAAAAGAAGTTAAATGCACAGTATTGACTACTGAATATTTTGTGACTTAATTCAAGATGATATCCCTGAAAGGATGAGAGAGGAGGAAGACACAATGGCAAGAGAAAGAGTAGGGGGACAGTGAACGATAGCTACAAGCATATCTATTAAAAAAAAAAAAAAGAGACGAATACCAAGAATAAACCCAGGTGACATGTCAATCAACATCATCATACCCTCTTTCTCGTCCAACATTAAGGAGCTCAAGGATAATGAATAAATACAGTGAACACTGGGAGGGGTGGAAGTATTTAAGTTGCTACCTAGGTAACTATAATA... | AGTAAAAGAAGTTAAATGCACAGTATTGACTACTGAATATTTTGTGACTTAATTCAAGATGATATCCCTGAAAGGATGAGAGAGGAGGAAGACACAATGGCAAGAGAAAGAGTAGGGGGACAGTGAACGATAGCTACAAGCATATCTATTAAAAAAAAAAAAAAGAGACGAATACCAAGAATAAACCCAGGTGACATGTCAATCAACATCATCATACCCTCTTTCTCGTCCAACATTAAGGAGCTCAAGGATAATGAATAAATACAGTGAACACTGGGAGGGGTGGAAGTATTTAAGTTGCTACCTAGGTAACTATAATA... | benign | 334,908 |
A genetic variant on chromosome X, position 53940367, affects the gene PHF8 (PHD finger protein 8). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ACAGCCACAGCCACAGCCACGTGGATAATGTTCTACATGATTTCAAAATCCAGGCAAATCCCTGGAGCTCACCCTAAAACAAGTGGCCTCATGTGTAGCCAGCTAAAAGTAGCTTCCTCCAACAGGCTACAAAACCGTGGTCAAAGGCTTGGGCATCTGACCTCTCCCTACCTTGACAAGTGATAGGAATCACCTTTCTTTTGAAAGGTAAGTGAAGTTGGCATTTCTAGGCCACTTCTGGAAATGGCCCACAGTGGGGCAGGAAGGAGGCTCTAGGCCTTCCTCTTCATTTCCATGAAGCATTTGGCAAGAGGGGGCAG... | ACAGCCACAGCCACAGCCACGTGGATAATGTTCTACATGATTTCAAAATCCAGGCAAATCCCTGGAGCTCACCCTAAAACAAGTGGCCTCATGTGTAGCCAGCTAAAAGTAGCTTCCTCCAACAGGCTACAAAACCGTGGTCAAAGGCTTGGGCATCTGACCTCTCCCTACCTTGACAAGTGATAGGAATCACCTTTCTTTTGAAAGGTAAGTGAAGTTGGCATTTCTAGGCCACTTCTGGAAATGGCCCACAGTGGGGCAGGAAGGAGGCTCTAGGCCTTCCTCTTCATTTCCATGAAGCATTTGGCAAGAGGGGGCAG... | benign | 334,916 |
Clinical classification of chromosome X, position 54470714, gene FGD1 (FYVE, RhoGEF and PH domain containing 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Aarskog_syndrome', 'FGD1-related_disorder'] | GGAGCCTTACTGCCTCTAAATTCTGGCCACAATGGTGGGATTGAACTCAGGCCCTATCACTGCCTCCTTGAAACGCACCTACAAGGTCCTGGGGCCCTCGTACCCCCAAGGGGCCACTCACCTGATCCAGGAGATGGAGCCTGGAAACGTAGGCCTTCTCAGTTTGCAGGAGCTCATTGGCAATGTGAAACACCTTTTGCTGCACAGTCAACTGGAAAGGAGAAACAGTAACCCCTGATCCATCATCCTCTATCGTAACCCTCACCCAAGCCCCCAGAATTCTTAAAACAGTTCCCATGCCACTCTAAGCCTAATACCAC... | GGAGCCTTACTGCCTCTAAATTCTGGCCACAATGGTGGGATTGAACTCAGGCCCTATCACTGCCTCCTTGAAACGCACCTACAAGGTCCTGGGGCCCTCGTACCCCCAAGGGGCCACTCACCTGATCCAGGAGATGGAGCCTGGAAACGTAGGCCTTCTCAGTTTGCAGGAGCTCATTGGCAATGTGAAACACCTTTTGCTGCACAGTCAACTGGAAAGGAGAAACAGTAACCCCTGATCCATCATCCTCTATCGTAACCCTCACCCAAGCCCCCAGAATTCTTAAAACAGTTCCCATGCCACTCTAAGCCTAATACCAC... | pathogenic | 334,981 |
Located at chromosome X position 54470714, the variant affecting gene FGD1 (FYVE, RhoGEF and PH domain containing 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Aarskog_syndrome', 'Inborn_genetic_diseases'] | GGAGCCTTACTGCCTCTAAATTCTGGCCACAATGGTGGGATTGAACTCAGGCCCTATCACTGCCTCCTTGAAACGCACCTACAAGGTCCTGGGGCCCTCGTACCCCCAAGGGGCCACTCACCTGATCCAGGAGATGGAGCCTGGAAACGTAGGCCTTCTCAGTTTGCAGGAGCTCATTGGCAATGTGAAACACCTTTTGCTGCACAGTCAACTGGAAAGGAGAAACAGTAACCCCTGATCCATCATCCTCTATCGTAACCCTCACCCAAGCCCCCAGAATTCTTAAAACAGTTCCCATGCCACTCTAAGCCTAATACCAC... | GGAGCCTTACTGCCTCTAAATTCTGGCCACAATGGTGGGATTGAACTCAGGCCCTATCACTGCCTCCTTGAAACGCACCTACAAGGTCCTGGGGCCCTCGTACCCCCAAGGGGCCACTCACCTGATCCAGGAGATGGAGCCTGGAAACGTAGGCCTTCTCAGTTTGCAGGAGCTCATTGGCAATGTGAAACACCTTTTGCTGCACAGTCAACTGGAAAGGAGAAACAGTAACCCCTGATCCATCATCCTCTATCGTAACCCTCACCCAAGCCCCCAGAATTCTTAAAACAGTTCCCATGCCACTCTAAGCCTAATACCAC... | pathogenic | 334,982 |
Mutation found at chromosome X position 54495155, gene FGD1 (FYVE, RhoGEF and PH domain containing 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Aarskog_syndrome'] | TACAGAGGCCAGAGACTGGGGGTCTAGACATTGCCCAGCTACTGACTTTCAGATCAAGAGTATCCAGAGGGCAGGAATTTGGTGTCCTTCTTTTAGGCAATAGTTACTGAGGGCCTACTATGTGCTTCTTTAGTATCTGTTTAGGCATTTATTTAATGAGGATTTCTTGAACACCTACTGCGTGTTAGGCACTGCGCTAGTTGCTGGGGATACAACAGTGAGCAAAAGAGATATAATCGCCTTGCCCCCATGGAGCTCACATTCTAGTAGAGGAAGATAGGCAATAAACGAGTAGACACATACAATAAGATAATTTCAGA... | TACAGAGGCCAGAGACTGGGGGTCTAGACATTGCCCAGCTACTGACTTTCAGATCAAGAGTATCCAGAGGGCAGGAATTTGGTGTCCTTCTTTTAGGCAATAGTTACTGAGGGCCTACTATGTGCTTCTTTAGTATCTGTTTAGGCATTTATTTAATGAGGATTTCTTGAACACCTACTGCGTGTTAGGCACTGCGCTAGTTGCTGGGGATACAACAGTGAGCAAAAGAGATATAATCGCCTTGCCCCCATGGAGCTCACATTCTAGTAGAGGAAGATAGGCAATAAACGAGTAGACACATACAATAAGATAATTTCAGA... | pathogenic | 334,987 |
Variant chromosome X, position 54495406, gene FGD1 (FYVE, RhoGEF and PH domain containing 1): benign or pathogenic? Disease(s)? | pathogenic; ['FGD1-related_disorder', 'Inborn_genetic_diseases'] | GGAGCTCACATTCTAGTAGAGGAAGATAGGCAATAAACGAGTAGACACATACAATAAGATAATTTCAGATTGTACTAAGTGCAAAGATGGAAGCACACTCACAGTCTCTGATGGAGACTCACAAGTGGCCCTACCTAAAGTGGTTAGGGACAGTCTCTTGGAAGAGGTGACATTTGACCTGAGACATGCAAGACGAGGAGCAAGCCAGGTGGAGGGCTAGGGGAAGAGCTTCCAGCCAGAAGGAAAAGCCAATGCAAAAGTCCTGGGGTGGGAGTGCTTGTGGCCTGTTTTGGCAGCTGCAAAAAGGCACTGGCTTTACA... | GGAGCTCACATTCTAGTAGAGGAAGATAGGCAATAAACGAGTAGACACATACAATAAGATAATTTCAGATTGTACTAAGTGCAAAGATGGAAGCACACTCACAGTCTCTGATGGAGACTCACAAGTGGCCCTACCTAAAGTGGTTAGGGACAGTCTCTTGGAAGAGGTGACATTTGACCTGAGACATGCAAGACGAGGAGCAAGCCAGGTGGAGGGCTAGGGGAAGAGCTTCCAGCCAGAAGGAAAAGCCAATGCAAAAGTCCTGGGGTGGGAGTGCTTGTGGCCTGTTTTGGCAGCTGCAAAAAGGCACTGGCTTTACA... | pathogenic | 334,991 |
A genetic variant at chromosome X, position 56565360, affecting gene UBQLN2 (ubiquilin 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ATTCTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAG... | ATTCTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAG... | benign | 335,079 |
Gene mutation in ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9) at chromosome X, position 63655508—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_8'] | TATATCTCCTACAGGTTATGCCTCTTTGGTTGAACCCTAACTGATACAAGGGGTTATAGTTAGATTCTATATTATTTATCTGGGGAGTTACTTATGATAAATTAAGTTTAAAAAAGCAACCTACAAGGTAATATATATAATATAATTTTTGTAAATATAAAAGTATTATGTTTGTATATGTTTATATGGACATGAGATAAGTATGGAAAGATGCATACTGCACTGTTAACACTGGTTATTTCATTCAGTATGGAAGTGACAGAGAAGGGGAAGGAATGCTAAGTTTTCTTTATATATTTCCATATTTGTTTAAATGGTTA... | TATATCTCCTACAGGTTATGCCTCTTTGGTTGAACCCTAACTGATACAAGGGGTTATAGTTAGATTCTATATTATTTATCTGGGGAGTTACTTATGATAAATTAAGTTTAAAAAAGCAACCTACAAGGTAATATATATAATATAATTTTTGTAAATATAAAAGTATTATGTTTGTATATGTTTATATGGACATGAGATAAGTATGGAAAGATGCATACTGCACTGTTAACACTGGTTATTTCATTCAGTATGGAAGTGACAGAGAAGGGGAAGGAATGCTAAGTTTTCTTTATATATTTCCATATTTGTTTAAATGGTTA... | pathogenic | 335,100 |
The chromosome X, position 63674177 genetic variant in gene ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGACCCCAAAGAGTTCTCTCATCCTTTCTGCCATGTGAGGTTACAATGAGAAGACAACAGTCTATGAAGAGGGCCCTCACCAGGCACTGAATCTACTGGTTCCTTGATCTTGGACTTCCCAGCTTCCACAATTATGAGAAATAAATTTCTGTTGTTTATAAGCCACCCAGTCTATGGTATTTTGTTATAGCAGCCTGAATGAAGTAGGATGTCAATTTAGATGAAGAAAGGCTTCACCAAGCAGGAGCGTACAAGGGATGTGTGGGCTTACATGAGATTAGAGTACCAATCAATCAGGCTAATAAAGGAGGCAGACACTG... | AGACCCCAAAGAGTTCTCTCATCCTTTCTGCCATGTGAGGTTACAATGAGAAGACAACAGTCTATGAAGAGGGCCCTCACCAGGCACTGAATCTACTGGTTCCTTGATCTTGGACTTCCCAGCTTCCACAATTATGAGAAATAAATTTCTGTTGTTTATAAGCCACCCAGTCTATGGTATTTTGTTATAGCAGCCTGAATGAAGTAGGATGTCAATTTAGATGAAGAAAGGCTTCACCAAGCAGGAGCGTACAAGGGATGTGTGGGCTTACATGAGATTAGAGTACCAATCAATCAGGCTAATAAAGGAGGCAGACACTG... | benign | 335,113 |
For chromosome X, position 63678579, gene ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGGGATCTTTTGGGCTCTGTGACATCACCGAAGTTTCTCCTTGGCAAGATGTCTGAGCCTGACACTTAGAAGGAGGTAGAGTGGTGACAGAAGGGAAGATTGCAGCACAGAAGCTGCTAACATAAGTAAGTGCTCCTGCTCTTTGGACCCATTTTCTGCCCCTGTACCTTTCCTTTCTCTGATTTGAGGAGATCAGTGCTCTAAACCACTTTCTTGGAAGTAAAGCACAGAGCTGTACTGTCCAACATGGTAGCTATTAGCCATATTTAATCAAAATTAAGTAAAATTTAAAATTTAGTTCCTCAGTTGCACTAGCTATG... | GGGGATCTTTTGGGCTCTGTGACATCACCGAAGTTTCTCCTTGGCAAGATGTCTGAGCCTGACACTTAGAAGGAGGTAGAGTGGTGACAGAAGGGAAGATTGCAGCACAGAAGCTGCTAACATAAGTAAGTGCTCCTGCTCTTTGGACCCATTTTCTGCCCCTGTACCTTTCCTTTCTCTGATTTGAGGAGATCAGTGCTCTAAACCACTTTCTTGGAAGTAAAGCACAGAGCTGTACTGTCCAACATGGTAGCTATTAGCCATATTTAATCAAAATTAAGTAAAATTTAAAATTTAGTTCCTCAGTTGCACTAGCTATG... | benign | 335,119 |
Evaluate this variant at chromosome X, position 64191797, gene AMER1 (APC membrane recruitment protein 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cleft_palate'] | ACAGGAGTTTTCCTTGGCCCAAAGGGTTTTCAAGTTAAACAACAACCCCCACCCCCCCACCCTTCTGCCCAACCCCTGATCCCCATTCACATGCTCAGGCCCCGTGTCCCTACTCCAGAATTGATAATAACTACTTGGCTAGGTTTCCATTCATGGCAGTGGAGGAGTAGCTGGTGGCAAGAGAGGCACCTTGCTCAGCCCTCTCCTTTGACAGGTCAAGGCTGGAAGGCCCATAGTGAGTGGGCTGAGGCTGGGGGTGCTCAGGCCGGACCCTGGGCAGCTGAGGAATGCCATGGGTGATGCCCACAGGCTTGGCCTGT... | ACAGGAGTTTTCCTTGGCCCAAAGGGTTTTCAAGTTAAACAACAACCCCCACCCCCCCACCCTTCTGCCCAACCCCTGATCCCCATTCACATGCTCAGGCCCCGTGTCCCTACTCCAGAATTGATAATAACTACTTGGCTAGGTTTCCATTCATGGCAGTGGAGGAGTAGCTGGTGGCAAGAGAGGCACCTTGCTCAGCCCTCTCCTTTGACAGGTCAAGGCTGGAAGGCCCATAGTGAGTGGGCTGAGGCTGGGGGTGCTCAGGCCGGACCCTGGGCAGCTGAGGAATGCCATGGGTGATGCCCACAGGCTTGGCCTGT... | pathogenic | 335,163 |
The mutation in gene AMER1 (APC membrane recruitment protein 1) at chromosome X, position 64192418—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CAGGACCTGGCCCCACTGGAAGAGGACAGGGAGCCCAAGCAGGCCAATCATAGGCCCCTGGGGGTTCAGTATAGAGGGAAAGGGGACTGTCTCGGCTCCATTCTCCTTCTTCCTCCTCTTCGTCCTCCTCATCTGAATCTTCCTGCTGGGCCTGCAGCTCATCAGACTCGAGGTAGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTC... | CAGGACCTGGCCCCACTGGAAGAGGACAGGGAGCCCAAGCAGGCCAATCATAGGCCCCTGGGGGTTCAGTATAGAGGGAAAGGGGACTGTCTCGGCTCCATTCTCCTTCTTCCTCCTCTTCGTCCTCCTCATCTGAATCTTCCTGCTGGGCCTGCAGCTCATCAGACTCGAGGTAGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTC... | pathogenic | 335,174 |
Classify the chromosome X variant at position 64192592 affecting gene AMER1 (APC membrane recruitment protein 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Osteopathia_striata_with_cranial_sclerosis'] | AGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTCACACCCCAGGGCAGGCCTTGGTAGAATCGACTATGGTAGTTGTTGAAGGCATGTTTGTGATAGTAGCCCAGCTCAAAGGCTTCCAAGGAGGCTGCAAGATCTTCATCATTGTGGAACTCAGGATTCTCTTCACACTTGCCTTCCCCATCCCGTTCCACATCAGCGATGTCAAAG... | AGCCCTGGACCAAGTGGGAATTGGAGAGCTCCATCTCCAGGGTCTCTGCAGTGTCGAGAGAGCGGCTTCTCCTGTTGAGGGCCATAGCAGCAGGTGGAGGTCGAGGGTGCAGGCCAGGCAGTCCCAAGTATCGAGGGAGGCTGCTCACACCCCAGGGCAGGCCTTGGTAGAATCGACTATGGTAGTTGTTGAAGGCATGTTTGTGATAGTAGCCCAGCTCAAAGGCTTCCAAGGAGGCTGCAAGATCTTCATCATTGTGGAACTCAGGATTCTCTTCACACTTGCCTTCCCCATCCCGTTCCACATCAGCGATGTCAAAG... | pathogenic | 335,180 |
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