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 |
|---|---|---|---|---|---|
The chromosome 1, position 235791916 genetic variant in gene LYST (lysosomal trafficking regulator): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Chédiak-Higashi_syndrome'] | GAGTAGTAATATTACAAATATTTAACTTAATGCTCACAACCATCTTATAAGGTAAATATATATAGGGTGACAAAATTGAGGTGCTGAGAGGTTAATTTGCCCAAAGGCACCAGTTAGTTTAGAGGTAAAAGGTATGATATCGCAGCAAAATATTCTTTATCTCTCTTCAAAACTTTTTATATATGTCTACTATTTTTAAGTGTTTATACAAAATCATCTTTCTAAAATATGTTTTCTAATATATCCTTAAAATAAAAATTAAGAAAAAACTTTCCAATATTTACTTTTCTCAGGTCACTATGTATATTTATTCATTTTAT... | GAGTAGTAATATTACAAATATTTAACTTAATGCTCACAACCATCTTATAAGGTAAATATATATAGGGTGACAAAATTGAGGTGCTGAGAGGTTAATTTGCCCAAAGGCACCAGTTAGTTTAGAGGTAAAAGGTATGATATCGCAGCAAAATATTCTTTATCTCTCTTCAAAACTTTTTATATATGTCTACTATTTTTAAGTGTTTATACAAAATCATCTTTCTAAAATATGTTTTCTAATATATCCTTAAAATAAAAATTAAGAAAAAACTTTCCAATATTTACTTTTCTCAGGTCACTATGTATATTTATTCATTTTAT... | pathogenic | 24,583 |
Does the genetic variant at chromosome 1, position 235800329, impacting gene LYST (lysosomal trafficking regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Chédiak-Higashi_syndrome'] | AAATCTGAATTATGGACTTCAGTTAATAATAACATATCAATATAAGTTCATTAATTATAATACATATATCATAAAAAATTAGATGTTAATAATAGGGAAAACTGGCAGGGAGGGGTGTAATGGGGGAACTCTTTATAATATCTGTTCAATTTCTCTGTAAATCTAAAGCTGTTCTAAAAAATAAAGTCTATTAATAAAAACTGAAGGAGAATTGCTTAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTTGGCGACAAGGGCAAAACCCTGTCATAAAAAAAAAAAAAAAAAAAAAA... | AAATCTGAATTATGGACTTCAGTTAATAATAACATATCAATATAAGTTCATTAATTATAATACATATATCATAAAAAATTAGATGTTAATAATAGGGAAAACTGGCAGGGAGGGGTGTAATGGGGGAACTCTTTATAATATCTGTTCAATTTCTCTGTAAATCTAAAGCTGTTCTAAAAAATAAAGTCTATTAATAAAAACTGAAGGAGAATTGCTTAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTTGGCGACAAGGGCAAAACCCTGTCATAAAAAAAAAAAAAAAAAAAAAA... | pathogenic | 24,588 |
Variant in LYST (lysosomal trafficking regulator), chromosome 1, position 235803018—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Chédiak-Higashi_syndrome'] | AGAAAGCAAATTTAATTCCAGCATACAAATCTCAGGATAAATTATTTCCCCTTGAGTGAGGTTTTCGAGTAAGTCATTTGGACTGCTTGATGCACTGAAACCTTCTGTTTCAGACTTTAAGTCTACCCCTGAAAAGAGAAAAGCGAAAGATTACTTGTATTCCCTAAACACTAAATATTTCAAACTTCATTAATCATTTAGAAGATCTAGTGGCAAAAATAGTAATTCAGAGGATGCTTACAAAACCTTTTCCAATCTTTTCCTATAACACAACTTTTGACAATGATATGGAAATTTTGAAGATTAATGAGTTCCCTTAA... | AGAAAGCAAATTTAATTCCAGCATACAAATCTCAGGATAAATTATTTCCCCTTGAGTGAGGTTTTCGAGTAAGTCATTTGGACTGCTTGATGCACTGAAACCTTCTGTTTCAGACTTTAAGTCTACCCCTGAAAAGAGAAAAGCGAAAGATTACTTGTATTCCCTAAACACTAAATATTTCAAACTTCATTAATCATTTAGAAGATCTAGTGGCAAAAATAGTAATTCAGAGGATGCTTACAAAACCTTTTCCAATCTTTTCCTATAACACAACTTTTGACAATGATATGGAAATTTTGAAGATTAATGAGTTCCCTTAA... | pathogenic | 24,594 |
Is the variant located on chromosome 1 at position 235804625, gene LYST (lysosomal trafficking regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Chédiak-Higashi_syndrome'] | ACTAATACGACATCACCCAGTTTATCGATTTCTATTTTATTATCTATTTCTGGTATTTATTGTCTTTCACACTAGAATATACATGAAATTGGGGACTCTGTCCTTCACTCCATGTTCTTAACCACTCAGATGATGTTTGTGATAACAAACTATATCACATTGTTGCATATATGAATGCCAGACTGTTGGGAAGATCAATAAAAAGATTATGCAACACACTTGTTAAACTGTAAGGCAATACAAAATTCTAAAGTGGTATTATTATGAACCATTTTGCTATTTAATGATCTGGCTTGCAGATCTAATTACAAGCACTTCAA... | ACTAATACGACATCACCCAGTTTATCGATTTCTATTTTATTATCTATTTCTGGTATTTATTGTCTTTCACACTAGAATATACATGAAATTGGGGACTCTGTCCTTCACTCCATGTTCTTAACCACTCAGATGATGTTTGTGATAACAAACTATATCACATTGTTGCATATATGAATGCCAGACTGTTGGGAAGATCAATAAAAAGATTATGCAACACACTTGTTAAACTGTAAGGCAATACAAAATTCTAAAGTGGTATTATTATGAACCATTTTGCTATTTAATGATCTGGCTTGCAGATCTAATTACAAGCACTTCAA... | pathogenic | 24,596 |
Evaluate the clinical significance of the mutation at chromosome 1, position 235806722 in gene LYST (lysosomal trafficking regulator): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Chédiak-Higashi_syndrome'] | AAATAAAAGAGACTAAGAATATTAATAACCATTTTAAAAAACTAAATGATGAAAAAATAAATAATAAATATTTACTTAAGTATAAAGCTAATCCATTTATTTGCAGTTGATATGAAAGCAAAATGACTATATAAATATCTAGCTCTATACAAACATCCTGTTAAAATTAATAACATTTTTATTGATAAAATACTTAGTTCATCTTATTTGGTTTTCATTGCAGCATGGTAAAGAATGGCAAGAAATGAAGCTAAGCGAAGAAGTCAAAGCAAGACTGAAGAGTTTTGTGTGCTGTGTTAAAGCTTGTGAATTTCAATTGT... | AAATAAAAGAGACTAAGAATATTAATAACCATTTTAAAAAACTAAATGATGAAAAAATAAATAATAAATATTTACTTAAGTATAAAGCTAATCCATTTATTTGCAGTTGATATGAAAGCAAAATGACTATATAAATATCTAGCTCTATACAAACATCCTGTTAAAATTAATAACATTTTTATTGATAAAATACTTAGTTCATCTTATTTGGTTTTCATTGCAGCATGGTAAAGAATGGCAAGAAATGAAGCTAAGCGAAGAAGTCAAAGCAAGACTGAAGAGTTTTGTGTGCTGTGTTAAAGCTTGTGAATTTCAATTGT... | pathogenic | 24,609 |
Considering the variant on chromosome 1, location 235806760, involving gene LYST (lysosomal trafficking regulator), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Chédiak-Higashi_syndrome'] | AAACTAAATGATGAAAAAATAAATAATAAATATTTACTTAAGTATAAAGCTAATCCATTTATTTGCAGTTGATATGAAAGCAAAATGACTATATAAATATCTAGCTCTATACAAACATCCTGTTAAAATTAATAACATTTTTATTGATAAAATACTTAGTTCATCTTATTTGGTTTTCATTGCAGCATGGTAAAGAATGGCAAGAAATGAAGCTAAGCGAAGAAGTCAAAGCAAGACTGAAGAGTTTTGTGTGCTGTGTTAAAGCTTGTGAATTTCAATTGTGGAAATTCAGTGTGGAAGCATCAGGATTTTTTAGAGAT... | AAACTAAATGATGAAAAAATAAATAATAAATATTTACTTAAGTATAAAGCTAATCCATTTATTTGCAGTTGATATGAAAGCAAAATGACTATATAAATATCTAGCTCTATACAAACATCCTGTTAAAATTAATAACATTTTTATTGATAAAATACTTAGTTCATCTTATTTGGTTTTCATTGCAGCATGGTAAAGAATGGCAAGAAATGAAGCTAAGCGAAGAAGTCAAAGCAAGACTGAAGAGTTTTGTGTGCTGTGTTAAAGCTTGTGAATTTCAATTGTGGAAATTCAGTGTGGAAGCATCAGGATTTTTTAGAGAT... | pathogenic | 24,611 |
Mutation at chromosome 1, position 235808802, within LYST (lysosomal trafficking regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Chédiak-Higashi_syndrome'] | AAACAAATCTCTTATTACCCTGTGAAAGAAAAAAAGCATGTAAAAAGGTTTAAATAAAGAAACATCATTTATAAATAGGTACATATAATATTTAATATATCGCTATTGCATGTGGGATATACTAACCACTACCTAATTTTATTCATCAATTATCAGGCTAAAGTTCTTAGTTAGATATAATTAGGACCTCAAGTTACTTTCTAATTACTCTGATATCCTTCTTCAAACATTTGTATATATGGCTCCAGCAGTATCTAAAAAGAAAAGATTGCCTGTCCCACATTAAATGAAGCAATTCAGGGAAGAATATTTTTCTCCAA... | AAACAAATCTCTTATTACCCTGTGAAAGAAAAAAAGCATGTAAAAAGGTTTAAATAAAGAAACATCATTTATAAATAGGTACATATAATATTTAATATATCGCTATTGCATGTGGGATATACTAACCACTACCTAATTTTATTCATCAATTATCAGGCTAAAGTTCTTAGTTAGATATAATTAGGACCTCAAGTTACTTTCTAATTACTCTGATATCCTTCTTCAAACATTTGTATATATGGCTCCAGCAGTATCTAAAAAGAAAAGATTGCCTGTCCCACATTAAATGAAGCAATTCAGGGAAGAATATTTTTCTCCAA... | pathogenic | 24,615 |
Variant in LYST (lysosomal trafficking regulator), chromosome 1, position 235809350—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['CHEDIAK-HIGASHI_SYNDROME,_CHILDHOOD_TYPE', 'Chédiak-Higashi_syndrome'] | TTGAACAGTCAATGGTACAAATATTATAAAAGTTTTTCAGCTCTGTCTCAGGTGAGACTTGTGTCTAGATCATTGGAATCCTAGTAATAACTTTAATATAAGCCAGCTAGGTGATTCTCAGCCCTTTCATCACAAAGATTCAGGTTGTCCACGAATACGCCAAAGAGTTACAAAACTTTCAAATCAGTCAGTTCTAGTTAAACAATGCCAAAATGTCAGAAAAATTTTTAAATGACTGTAAGGCATTGATTTAACATCAATAATAGTTTTAAAGTAGTTGTGCTAAGATTGACCAAAAAATGCCACACACGAAGATATTG... | TTGAACAGTCAATGGTACAAATATTATAAAAGTTTTTCAGCTCTGTCTCAGGTGAGACTTGTGTCTAGATCATTGGAATCCTAGTAATAACTTTAATATAAGCCAGCTAGGTGATTCTCAGCCCTTTCATCACAAAGATTCAGGTTGTCCACGAATACGCCAAAGAGTTACAAAACTTTCAAATCAGTCAGTTCTAGTTAAACAATGCCAAAATGTCAGAAAAATTTTTAAATGACTGTAAGGCATTGATTTAACATCAATAATAGTTTTAAAGTAGTTGTGCTAAGATTGACCAAAAAATGCCACACACGAAGATATTG... | pathogenic | 24,624 |
The mutation impacting EDARADD (EDAR associated via death domain) on chromosome 1 at position 236427375: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGGGGTCAGGAGAACACATGGGCAGCAGCAAGGGAAGCAGCAGCTGAGGGGATGGGCAGGGTCACTGCCTTTGCCTTAGCAGCAACCAGGGCACCAGGGAAACTCCCCTGGGGAACTCCCTGGTCTCTCTCCTTCCTTTCTGCAAACCTCTGTCTGCAAAGGACCGCCCCCGTGGCTGACCTGGGGATGCACTTCACAAACAGTGCCTGTACAGCTGCCCCAAGTGGCCAGTGATGGTCACCAAGCTAGTTGTATTGCTAAGAGAGCTTGCACCTGTCCCTTGATAAGTGGGACTTAAGCAGCAACCGGTTAGGGGGATG... | GGGGGTCAGGAGAACACATGGGCAGCAGCAAGGGAAGCAGCAGCTGAGGGGATGGGCAGGGTCACTGCCTTTGCCTTAGCAGCAACCAGGGCACCAGGGAAACTCCCCTGGGGAACTCCCTGGTCTCTCTCCTTCCTTTCTGCAAACCTCTGTCTGCAAAGGACCGCCCCCGTGGCTGACCTGGGGATGCACTTCACAAACAGTGCCTGTACAGCTGCCCCAAGTGGCCAGTGATGGTCACCAAGCTAGTTGTATTGCTAAGAGAGCTTGCACCTGTCCCTTGATAAGTGGGACTTAAGCAGCAACCGGTTAGGGGGATG... | benign | 24,701 |
The mutation in gene ACTN2 (actinin alpha 2) at chromosome 1, position 236744666—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATTGTCAGCCCTCTACATCTTTGTCCACATCTGGAGAAGTGTCAGGATCGCTGATAACAACTATGTTAGTCTTAAAAGATCCCAGTGAATTGTAATTAAGACATTTGGAAGCCAAATAATTGAATGGTTATTGAGGTGGGGGGTAAGGAAGGAAAAGAAAACAAAAGGAAAACACCATCAAAATGTAGTGGAGGGATTTATAGAAGAAGCCTGAGAGGCCAGAATGTAACGAAGGTGCTTGTTACACATTTGCTTCCCTTGGCTTCCAACCATCCCAGGATATTGCTGGTGCCTGGCAGAGGCTGGAGCAGGCTGAGAAG... | ATTGTCAGCCCTCTACATCTTTGTCCACATCTGGAGAAGTGTCAGGATCGCTGATAACAACTATGTTAGTCTTAAAAGATCCCAGTGAATTGTAATTAAGACATTTGGAAGCCAAATAATTGAATGGTTATTGAGGTGGGGGGTAAGGAAGGAAAAGAAAACAAAAGGAAAACACCATCAAAATGTAGTGGAGGGATTTATAGAAGAAGCCTGAGAGGCCAGAATGTAACGAAGGTGCTTGTTACACATTTGCTTCCCTTGGCTTCCAACCATCCCAGGATATTGCTGGTGCCTGGCAGAGGCTGGAGCAGGCTGAGAAG... | benign | 24,830 |
Is the genetic mutation found on chromosome 1 at position 236808783, within the gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCTTCCCATTCTACCCCCAACTCCAGCCCCAGCATACTCTATTCTACTTTCTGTCTCTATGAATTTGACTATTCTAGGTACCTTAGATATGTTGAATCATATAGTATTTGGCCTTTTGTGACTAGTTTGTTTCACTTAATGTAATGTCCTCAAGGTTCATCCATGTTGTAGTATGTATCAGAATTTCCTTCCTTTTTAAGGTTGAATAATATACCATTGTGTGTATATACCACGTTTTGCTTATTCATCTGTTGATCATTTGGGTTGCTTCTACCTTTCGGCTATTGTGAATATGCAATGTTGCTATATACATGTATATA... | CCTTCCCATTCTACCCCCAACTCCAGCCCCAGCATACTCTATTCTACTTTCTGTCTCTATGAATTTGACTATTCTAGGTACCTTAGATATGTTGAATCATATAGTATTTGGCCTTTTGTGACTAGTTTGTTTCACTTAATGTAATGTCCTCAAGGTTCATCCATGTTGTAGTATGTATCAGAATTTCCTTCCTTTTTAAGGTTGAATAATATACCATTGTGTGTATATACCACGTTTTGCTTATTCATCTGTTGATCATTTGGGTTGCTTCTACCTTTCGGCTATTGTGAATATGCAATGTTGCTATATACATGTATATA... | benign | 24,975 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 236825391, gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase): what disease(s) if pathogenic? | pathogenic; ['Methylcobalamin_deficiency_type_cblG'] | GTGGGTCATGTCAGTTCTCAAAAAGTTTCATATTTTGAAGTATTTTGGATTTCCAGTTTTCAGATTAGGGATATTTAACCTATATTAACTAAACTGCAGACTTTATTCAGATTTCAAGGATTTTCCACTGATAATCTGTTTTCTATTCAAGGATCCAGTCTAGGATGCCACATTGCACTTAGGAATCACAGTAAAAGGAAAAAAGTAAAATGTGATAACATTAGAGATCACATAGTCTAGTAGCTTCATAGTTGGTTCATAAATTCTGGAAGACCTCAGGCCCACCACCCACTGACAACCTTATAGGGTAGCAGGGACTC... | GTGGGTCATGTCAGTTCTCAAAAAGTTTCATATTTTGAAGTATTTTGGATTTCCAGTTTTCAGATTAGGGATATTTAACCTATATTAACTAAACTGCAGACTTTATTCAGATTTCAAGGATTTTCCACTGATAATCTGTTTTCTATTCAAGGATCCAGTCTAGGATGCCACATTGCACTTAGGAATCACAGTAAAAGGAAAAAAGTAAAATGTGATAACATTAGAGATCACATAGTCTAGTAGCTTCATAGTTGGTTCATAAATTCTGGAAGACCTCAGGCCCACCACCCACTGACAACCTTATAGGGTAGCAGGGACTC... | pathogenic | 24,988 |
Clinical classification of chromosome 1, position 236853075, gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Methylcobalamin_deficiency_type_cblG'] | TTTCTTCATAAATTTATTGCTTATATATGTAGATTTGATTTGCATCATCTATGGATTTTATATTTGCAAATTCATGTACTTACTGAAATTTATTTGTGACCCCAAAATCAATACTCAACGTCACTTCTGCAGTTGTTCAGACTTACCCATATGCAGAGTGGTGGAAAATTTGAGTGGCCCAACCCATATTATTCCCAAAGAGGGCAAACATGGCAGTGACCTACCTTCTTATTTCAGCTCTCATCCTGTACACAGATGTCCTTTTTGCAGTCTAATGCCATGTTTTTCACACTTTTATGCGTTTTGTTGGTGAGGTCACT... | TTTCTTCATAAATTTATTGCTTATATATGTAGATTTGATTTGCATCATCTATGGATTTTATATTTGCAAATTCATGTACTTACTGAAATTTATTTGTGACCCCAAAATCAATACTCAACGTCACTTCTGCAGTTGTTCAGACTTACCCATATGCAGAGTGGTGGAAAATTTGAGTGGCCCAACCCATATTATTCCCAAAGAGGGCAAACATGGCAGTGACCTACCTTCTTATTTCAGCTCTCATCCTGTACACAGATGTCCTTTTTGCAGTCTAATGCCATGTTTTTCACACTTTTATGCGTTTTGTTGGTGAGGTCACT... | pathogenic | 25,011 |
Assess the variant on chromosome 1, position 236859871, impacting MTR (5-methyltetrahydrofolate-homocysteine methyltransferase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Methylcobalamin_deficiency_type_cblG'] | GGAAAGCTTCCCAGGGGAAGTGATAGGTCAGGTGAGACTTGAGAGAAATAAAGGAGGTGGCCAGGCCAAGGTTTGGGGGTAGAGTGCAGTGCTGGTGGTCCCTGCCAGGGGAGAGATATTTGCATGTAGCCAGAGTCTGGCATGGTCATAGGTACTGCATAAATGTATGTCAGATGAACAAATGCGAAGGCCTGGTGGTAAAGAGTTGATGGGGAGGGGAGCATAAGGAACAGAAGTGTTCTGGATGGCTGAAGCTTGTCGGGAATGGCAGAAGAGAAAGCCAGATCAGGTGTACTAGTCCATTCTCATGCTGCTGATAA... | GGAAAGCTTCCCAGGGGAAGTGATAGGTCAGGTGAGACTTGAGAGAAATAAAGGAGGTGGCCAGGCCAAGGTTTGGGGGTAGAGTGCAGTGCTGGTGGTCCCTGCCAGGGGAGAGATATTTGCATGTAGCCAGAGTCTGGCATGGTCATAGGTACTGCATAAATGTATGTCAGATGAACAAATGCGAAGGCCTGGTGGTAAAGAGTTGATGGGGAGGGGAGCATAAGGAACAGAAGTGTTCTGGATGGCTGAAGCTTGTCGGGAATGGCAGAAGAGAAAGCCAGATCAGGTGTACTAGTCCATTCTCATGCTGCTGATAA... | pathogenic | 25,014 |
Is the genetic mutation found on chromosome 1 at position 236861173, within the gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Methylcobalamin_deficiency_type_cblG', 'Neural_tube_defects,_folate-sensitive'] | CACAATTCTGGCAGCTGGAAAATCCAAGAGTATGGCCTTGGCCCCTGGTGAGGGCCTTCTTGCTGTGTCATAACATGGCAGAGGGCATCTCATGTCAAGAGGGCAAGAGCAAGAGAGCCAGAGAGATAGCAAACCTGCTTCCATGGTAGCAACATTAATCCAGCCGTCATAAATTCGTTAATCCATTCATGGGGGCAGAGGGATTAGGTTTCCAACACAACTTTTGGAGGACACCTTCAAACCATAACAATGGCAGAGTCCTTGAGAGCATAGTCTGTGTCGTACACCTCCTAGTGTGCCCACCTTTGATGTCTGACTTA... | CACAATTCTGGCAGCTGGAAAATCCAAGAGTATGGCCTTGGCCCCTGGTGAGGGCCTTCTTGCTGTGTCATAACATGGCAGAGGGCATCTCATGTCAAGAGGGCAAGAGCAAGAGAGCCAGAGAGATAGCAAACCTGCTTCCATGGTAGCAACATTAATCCAGCCGTCATAAATTCGTTAATCCATTCATGGGGGCAGAGGGATTAGGTTTCCAACACAACTTTTGGAGGACACCTTCAAACCATAACAATGGCAGAGTCCTTGAGAGCATAGTCTGTGTCGTACACCTCCTAGTGTGCCCACCTTTGATGTCTGACTTA... | pathogenic | 25,021 |
Chromosome 1, position 236874698, gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACCCATAGTAGTGCTTTCATGATAGAGTTACTATGAGGGTTTAAATGAGATCATTTATGCAGGCCGGGCACTGTGGCTCAAGCCTATAATCCTAGCTCAAGCCTGTAATCCCAAAGGAAGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAAACCCTATCTACAAAAACTGTAAAAATTAGCTGGGTTTAGTGGGGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGGTCAAGGCTGCAGTGAGCCGTAATCACGCCACTGCACTCCAGCCTGGGTGACAGA... | ACCCATAGTAGTGCTTTCATGATAGAGTTACTATGAGGGTTTAAATGAGATCATTTATGCAGGCCGGGCACTGTGGCTCAAGCCTATAATCCTAGCTCAAGCCTGTAATCCCAAAGGAAGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAAACCCTATCTACAAAAACTGTAAAAATTAGCTGGGTTTAGTGGGGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGGTCAAGGCTGCAGTGAGCCGTAATCACGCCACTGCACTCCAGCCTGGGTGACAGA... | benign | 25,030 |
Is the genetic mutation found on chromosome 1 at position 236874708, within the gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGCTTTCATGATAGAGTTACTATGAGGGTTTAAATGAGATCATTTATGCAGGCCGGGCACTGTGGCTCAAGCCTATAATCCTAGCTCAAGCCTGTAATCCCAAAGGAAGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAAACCCTATCTACAAAAACTGTAAAAATTAGCTGGGTTTAGTGGGGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGGTCAAGGCTGCAGTGAGCCGTAATCACGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCT... | GTGCTTTCATGATAGAGTTACTATGAGGGTTTAAATGAGATCATTTATGCAGGCCGGGCACTGTGGCTCAAGCCTATAATCCTAGCTCAAGCCTGTAATCCCAAAGGAAGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAAACCCTATCTACAAAAACTGTAAAAATTAGCTGGGTTTAGTGGGGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGGTCAAGGCTGCAGTGAGCCGTAATCACGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCT... | benign | 25,033 |
Does the chromosome 1 mutation at position 236874708 within gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GTGCTTTCATGATAGAGTTACTATGAGGGTTTAAATGAGATCATTTATGCAGGCCGGGCACTGTGGCTCAAGCCTATAATCCTAGCTCAAGCCTGTAATCCCAAAGGAAGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAAACCCTATCTACAAAAACTGTAAAAATTAGCTGGGTTTAGTGGGGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGGTCAAGGCTGCAGTGAGCCGTAATCACGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCT... | GTGCTTTCATGATAGAGTTACTATGAGGGTTTAAATGAGATCATTTATGCAGGCCGGGCACTGTGGCTCAAGCCTATAATCCTAGCTCAAGCCTGTAATCCCAAAGGAAGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAAACCCTATCTACAAAAACTGTAAAAATTAGCTGGGTTTAGTGGGGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGGTCAAGGCTGCAGTGAGCCGTAATCACGCCACTGCACTCCAGCCTGGGTGACAGAATGAGACCCT... | benign | 25,034 |
Is the variant located on chromosome 1 at position 236880825, gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Methylcobalamin_deficiency_type_cblG'] | AGCACACACTGGGCATAAAACAGGAGGGTCTCAGGAGGCCATGGAGTTCATTAATCTGCCCCAGGGCCATGGTCTGGCCTCCCTACCACTCTGTACCCCAGCCTTCCCATTCCAAAAGATGGCTCTTGACTCACTGGCTTATGCCTGAATGCCCATCTTCCAGCTCAGTTCTCATAGCCTAAGGCTTTGTAGTCCTTTGCTTCCGTTTACAAGTGGACATACTGTTAGGAAGATGGAACAGGTGAAGTGTTACTGGTCTTGTCTGTCTTATGAGTTTTTAGAGCCTTCCTTGAGAAGCCTGTTAAAAACACACTCATGCA... | AGCACACACTGGGCATAAAACAGGAGGGTCTCAGGAGGCCATGGAGTTCATTAATCTGCCCCAGGGCCATGGTCTGGCCTCCCTACCACTCTGTACCCCAGCCTTCCCATTCCAAAAGATGGCTCTTGACTCACTGGCTTATGCCTGAATGCCCATCTTCCAGCTCAGTTCTCATAGCCTAAGGCTTTGTAGTCCTTTGCTTCCGTTTACAAGTGGACATACTGTTAGGAAGATGGAACAGGTGAAGTGTTACTGGTCTTGTCTGTCTTATGAGTTTTTAGAGCCTTCCTTGAGAAGCCTGTTAAAAACACACTCATGCA... | pathogenic | 25,039 |
Clinical significance of chromosome 1, position 236886311, gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['MTR-related_disorder', 'Methylcobalamin_deficiency_type_cblG'] | GCAGCTCTCATAGGGCTTTCTAGTAAGGGAAGTGGATATATAAATTGGAACTAAAAGGCTTTGGAAAGTGCAGTAGTAGATGAATAGAATATCTTTGAAACCTTGAGTTGGGAGTTTCTTAACCCAGAGGGTTCCCAAGACCACCTTCAGGTTCAAAGTTTCACTAGAAGGACACAGAGAACCCAGAAACACTGTTATGACCATGGTTTATTGTTGTGAAAGGATATAGGTTAAAATCAGGAAAGGCAAAAGGCACATAGGATGGAATGCAGGAGAGACCAGGTACAGGCTTTCAGGAGTCATCTCCCCCATAGAGTAAT... | GCAGCTCTCATAGGGCTTTCTAGTAAGGGAAGTGGATATATAAATTGGAACTAAAAGGCTTTGGAAAGTGCAGTAGTAGATGAATAGAATATCTTTGAAACCTTGAGTTGGGAGTTTCTTAACCCAGAGGGTTCCCAAGACCACCTTCAGGTTCAAAGTTTCACTAGAAGGACACAGAGAACCCAGAAACACTGTTATGACCATGGTTTATTGTTGTGAAAGGATATAGGTTAAAATCAGGAAAGGCAAAAGGCACATAGGATGGAATGCAGGAGAGACCAGGTACAGGCTTTCAGGAGTCATCTCCCCCATAGAGTAAT... | pathogenic | 25,047 |
Mutation found at chromosome 1 position 236891176, gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Methylcobalamin_deficiency_type_cblG', 'Neural_tube_defects,_folate-sensitive'] | CCATCAGGCAGGGTGCCAGCGTCAGCATTGACAACCATACTTCTCTCCTGTAGTGAAGCCCACGTTTATTGGGACCCAGGTCTTTGAAGACTATGACCTGCAGAAGCTGGTGGACTACATTGACTGGAAGCCTTTCTTTGATGTCTGGCAGCTCCGGGGCAAGTACCCGAATCGAGGCTTTCCCAAGATATTTAACGACAAAACAGTAGGTTAGTGCAGTAAGTCCTTCCTTTCTGCCTCTGATATTCAAGCTGTGGGATTGTGACTTTGAAGACCGGAATCGGTGAGGAGCAGTGGATTTGGATTGTGCAGATTACGGC... | CCATCAGGCAGGGTGCCAGCGTCAGCATTGACAACCATACTTCTCTCCTGTAGTGAAGCCCACGTTTATTGGGACCCAGGTCTTTGAAGACTATGACCTGCAGAAGCTGGTGGACTACATTGACTGGAAGCCTTTCTTTGATGTCTGGCAGCTCCGGGGCAAGTACCCGAATCGAGGCTTTCCCAAGATATTTAACGACAAAACAGTAGGTTAGTGCAGTAAGTCCTTCCTTTCTGCCTCTGATATTCAAGCTGTGGGATTGTGACTTTGAAGACCGGAATCGGTGAGGAGCAGTGGATTTGGATTGTGCAGATTACGGC... | pathogenic | 25,052 |
Is the chromosome 1, position 236897006 variant in MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Methylcobalamin_deficiency_type_cblG'] | GGAATGAGGGTAGTAGCCTTTGCCCTGGGGAGAGCCTCTCCCTTTTCCTGCAGTGAACAGTGGAGGAACTAGCAGCTGTATGGTCCCAGCTGCTCTTTCTGGCCCGTGGAGCTTTGGATTGACCTTTAGGGAAATCGTTAATTTTAAGGTCTAAAATCTTTAGGTCATTAAGTATGGTCCTTCAGAGCTCAGGTTGAGGCCAAAATTGAGCTGCAGAGCAGCAGCTGATGAAAGTACAAACCAATCAAGAATCCAGCCTGTTTCCTCTTGTCAAATTTCCCCTGGCTGTGGTCCAGATGAGGGAGGGTGTCCTCATGGTT... | GGAATGAGGGTAGTAGCCTTTGCCCTGGGGAGAGCCTCTCCCTTTTCCTGCAGTGAACAGTGGAGGAACTAGCAGCTGTATGGTCCCAGCTGCTCTTTCTGGCCCGTGGAGCTTTGGATTGACCTTTAGGGAAATCGTTAATTTTAAGGTCTAAAATCTTTAGGTCATTAAGTATGGTCCTTCAGAGCTCAGGTTGAGGCCAAAATTGAGCTGCAGAGCAGCAGCTGATGAAAGTACAAACCAATCAAGAATCCAGCCTGTTTCCTCTTGTCAAATTTCCCCTGGCTGTGGTCCAGATGAGGGAGGGTGTCCTCATGGTT... | pathogenic | 25,073 |
Is the genetic mutation found on chromosome 1 at position 237374800, within the gene RYR2 (ryanodine receptor 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCAGTCTGTTTGCCACATGCTGGACAGCCTGGGATATTTTGCATAATCAAGCCTGTAATTACACCTGAAATTTTTATACATTCATTAAATAAATATTATTTGGCATCTACTATGTGCTAGGTACTGTTTTAGGTCCTGGATATAGTAGTGAATAAGACCAAGTTCTTGCTCTCTTTAATTAACACTTAGTAGAATAATCATAGTATCTACCTCAGAGTTACTAGAAACATTAAGGAGAAAGCATATGTTAATAGTTATAGGTACAGTGCCTAATACTGTACTTGTTATTGAAAAAATTACAAAAGACTTTAATAGGAATC... | TCAGTCTGTTTGCCACATGCTGGACAGCCTGGGATATTTTGCATAATCAAGCCTGTAATTACACCTGAAATTTTTATACATTCATTAAATAAATATTATTTGGCATCTACTATGTGCTAGGTACTGTTTTAGGTCCTGGATATAGTAGTGAATAAGACCAAGTTCTTGCTCTCTTTAATTAACACTTAGTAGAATAATCATAGTATCTACCTCAGAGTTACTAGAAACATTAAGGAGAAAGCATATGTTAATAGTTATAGGTACAGTGCCTAATACTGTACTTGTTATTGAAAAAATTACAAAAGACTTTAATAGGAATC... | benign | 25,168 |
Mutation at chromosome 1, position 237377314, within RYR2 (ryanodine receptor 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GATTTGTGAAACAAAAATGTATATATTAACACTTTTTTTTGGAGAATCAAAATAGGAGAACACAAACTTGATGTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACA... | GATTTGTGAAACAAAAATGTATATATTAACACTTTTTTTTGGAGAATCAAAATAGGAGAACACAAACTTGATGTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACA... | benign | 25,175 |
Considering the genetic mutation at chromosome 1, position 237423079, impacting RYR2 (ryanodine receptor 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GAGATCGAGACCATCCTGGCTAACATGATGAAACCCCGTCTCTACTGAAAATACAAAAGTTAGCCGGGCGCGGTGGCTGGCGCCTATAGTCCTGGCTACTCGGGAGGCTGGGGCTAGAGAATCGCTTGAACCCGGGAGGCGGAGTTTACAGTGAGCCAAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAATAAAAATAATAGTAATAATAATAATAATGATAATTGTGGTTTTCATAGTATTTGCAAACAATACACTTAATTTTATAAGAGGAGGATTTTAAAAAGCTTGTTTATTTC... | GAGATCGAGACCATCCTGGCTAACATGATGAAACCCCGTCTCTACTGAAAATACAAAAGTTAGCCGGGCGCGGTGGCTGGCGCCTATAGTCCTGGCTACTCGGGAGGCTGGGGCTAGAGAATCGCTTGAACCCGGGAGGCGGAGTTTACAGTGAGCCAAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAATAAAAATAATAGTAATAATAATAATAATGATAATTGTGGTTTTCATAGTATTTGCAAACAATACACTTAATTTTATAAGAGGAGGATTTTAAAAAGCTTGTTTATTTC... | benign | 25,224 |
Is the variant located on chromosome 1 at position 237456575, gene RYR2 (ryanodine receptor 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AACAGACTACGAGCCCTGAAGAATCGGCAAAATCTCTTCCAGGAAGAGGTCCGTTTCTATCAACACTCATTTCTCTTCTGTTATTCTCTTGTAAAAACAGCTTCTTGGTTGGGAAAATTTTCCATCTATTTTGACCATCTTTGCGTTTTGCAATATAGAGGAGAAAGTATACTACTGAACAGGAGAAACAGGCCTTAGAGAAATCTCGACATGATTTTTATTTATTTATACTATCCATGAGTATTAATTTAAAAACATGAATCTTTTCATTCTCCTGGCAAGAGACATTTACTGTCTGCTCAGCCCTCACCCTGGTCTTT... | AACAGACTACGAGCCCTGAAGAATCGGCAAAATCTCTTCCAGGAAGAGGTCCGTTTCTATCAACACTCATTTCTCTTCTGTTATTCTCTTGTAAAAACAGCTTCTTGGTTGGGAAAATTTTCCATCTATTTTGACCATCTTTGCGTTTTGCAATATAGAGGAGAAAGTATACTACTGAACAGGAGAAACAGGCCTTAGAGAAATCTCGACATGATTTTTATTTATTTATACTATCCATGAGTATTAATTTAAAAACATGAATCTTTTCATTCTCCTGGCAAGAGACATTTACTGTCTGCTCAGCCCTCACCCTGGTCTTT... | benign | 25,289 |
Chromosome 1, position 237456575, gene RYR2 (ryanodine receptor 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AACAGACTACGAGCCCTGAAGAATCGGCAAAATCTCTTCCAGGAAGAGGTCCGTTTCTATCAACACTCATTTCTCTTCTGTTATTCTCTTGTAAAAACAGCTTCTTGGTTGGGAAAATTTTCCATCTATTTTGACCATCTTTGCGTTTTGCAATATAGAGGAGAAAGTATACTACTGAACAGGAGAAACAGGCCTTAGAGAAATCTCGACATGATTTTTATTTATTTATACTATCCATGAGTATTAATTTAAAAACATGAATCTTTTCATTCTCCTGGCAAGAGACATTTACTGTCTGCTCAGCCCTCACCCTGGTCTTT... | AACAGACTACGAGCCCTGAAGAATCGGCAAAATCTCTTCCAGGAAGAGGTCCGTTTCTATCAACACTCATTTCTCTTCTGTTATTCTCTTGTAAAAACAGCTTCTTGGTTGGGAAAATTTTCCATCTATTTTGACCATCTTTGCGTTTTGCAATATAGAGGAGAAAGTATACTACTGAACAGGAGAAACAGGCCTTAGAGAAATCTCGACATGATTTTTATTTATTTATACTATCCATGAGTATTAATTTAAAAACATGAATCTTTTCATTCTCCTGGCAAGAGACATTTACTGTCTGCTCAGCCCTCACCCTGGTCTTT... | benign | 25,290 |
Clinical significance of chromosome 1, position 237456575, gene RYR2 (ryanodine receptor 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AACAGACTACGAGCCCTGAAGAATCGGCAAAATCTCTTCCAGGAAGAGGTCCGTTTCTATCAACACTCATTTCTCTTCTGTTATTCTCTTGTAAAAACAGCTTCTTGGTTGGGAAAATTTTCCATCTATTTTGACCATCTTTGCGTTTTGCAATATAGAGGAGAAAGTATACTACTGAACAGGAGAAACAGGCCTTAGAGAAATCTCGACATGATTTTTATTTATTTATACTATCCATGAGTATTAATTTAAAAACATGAATCTTTTCATTCTCCTGGCAAGAGACATTTACTGTCTGCTCAGCCCTCACCCTGGTCTTT... | AACAGACTACGAGCCCTGAAGAATCGGCAAAATCTCTTCCAGGAAGAGGTCCGTTTCTATCAACACTCATTTCTCTTCTGTTATTCTCTTGTAAAAACAGCTTCTTGGTTGGGAAAATTTTCCATCTATTTTGACCATCTTTGCGTTTTGCAATATAGAGGAGAAAGTATACTACTGAACAGGAGAAACAGGCCTTAGAGAAATCTCGACATGATTTTTATTTATTTATACTATCCATGAGTATTAATTTAAAAACATGAATCTTTTCATTCTCCTGGCAAGAGACATTTACTGTCTGCTCAGCCCTCACCCTGGTCTTT... | benign | 25,291 |
Regarding the variant found on chromosome 1 at position 237456748 in gene RYR2 (ryanodine receptor 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACTGAACAGGAGAAACAGGCCTTAGAGAAATCTCGACATGATTTTTATTTATTTATACTATCCATGAGTATTAATTTAAAAACATGAATCTTTTCATTCTCCTGGCAAGAGACATTTACTGTCTGCTCAGCCCTCACCCTGGTCTTTTGCAAGCACTATAGTTCTCTTCATGTGGGTTATATCAATTAAGAATCTCAAAGTGTCTGTACGAATACAGGCTTTAGAAAGCATCAGGGTTTTCAAACTATTCAGCAGGTGCTCCTTGGAAATGGCCCAGGATCTATAGGAAGCTTCGTGTTGGGGATGGAAGCTGTCAGGAG... | ACTGAACAGGAGAAACAGGCCTTAGAGAAATCTCGACATGATTTTTATTTATTTATACTATCCATGAGTATTAATTTAAAAACATGAATCTTTTCATTCTCCTGGCAAGAGACATTTACTGTCTGCTCAGCCCTCACCCTGGTCTTTTGCAAGCACTATAGTTCTCTTCATGTGGGTTATATCAATTAAGAATCTCAAAGTGTCTGTACGAATACAGGCTTTAGAAAGCATCAGGGTTTTCAAACTATTCAGCAGGTGCTCCTTGGAAATGGCCCAGGATCTATAGGAAGCTTCGTGTTGGGGATGGAAGCTGTCAGGAG... | benign | 25,304 |
Variant at chromosome position 237491783, chromosome 1, gene RYR2 (ryanodine receptor 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CAAAAAACTTAACAGAGAACTACCATTTGACCCAGGAAGCCTATTACTGGGTATATATCTGAAAGAAAATTAATTGTTTTACCGAAAAGACACATGCACTTAAATGTTCGTGGCATCACTATTCACAAGAGCAAAGACATGTCATCAATCTAGGTACCCATCCACAGTAAACTGCATAAAGAAAATGTGGTACCTATGCGTCATGAAATACTACGGATTGGATAAAGAAAATGTGGTACATATACACCATAGAATACCACGCAGCCATAATAAGATTGACATCATGTCCTTTACAGCAACATGGATGCAACTGGAGGTTG... | CAAAAAACTTAACAGAGAACTACCATTTGACCCAGGAAGCCTATTACTGGGTATATATCTGAAAGAAAATTAATTGTTTTACCGAAAAGACACATGCACTTAAATGTTCGTGGCATCACTATTCACAAGAGCAAAGACATGTCATCAATCTAGGTACCCATCCACAGTAAACTGCATAAAGAAAATGTGGTACCTATGCGTCATGAAATACTACGGATTGGATAAAGAAAATGTGGTACATATACACCATAGAATACCACGCAGCCATAATAAGATTGACATCATGTCCTTTACAGCAACATGGATGCAACTGGAGGTTG... | benign | 25,316 |
The mutation in gene RYR2 (ryanodine receptor 2) at chromosome 1, position 237503509—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTACCAGAGGGAAACAAATTAAAGTGATAATCCATTGTAGTTCTGCAAATGAAACTTTAATAAATGATGGTCTGTTATAATAAGTAACTACTCTGTCACTTATTTTTATACACACACACACCTGTACACTTAGAAGGACTCCATTTGTTTCAGTTATTCTTTTAGTTATAATTCTCCCAGGAATAATTCCTAGTTACAAAAGCATCATATTGAAGAAGAAACAGAGTAATCATGAATATTAGCTATCCACGTACCAGTTACTTTTTCTGATGTATTTATACAAATTATGTTTCTATAAGCTTCTGGAATGTTTTAACATT... | TTACCAGAGGGAAACAAATTAAAGTGATAATCCATTGTAGTTCTGCAAATGAAACTTTAATAAATGATGGTCTGTTATAATAAGTAACTACTCTGTCACTTATTTTTATACACACACACACCTGTACACTTAGAAGGACTCCATTTGTTTCAGTTATTCTTTTAGTTATAATTCTCCCAGGAATAATTCCTAGTTACAAAAGCATCATATTGAAGAAGAAACAGAGTAATCATGAATATTAGCTATCCACGTACCAGTTACTTTTTCTGATGTATTTATACAAATTATGTTTCTATAAGCTTCTGGAATGTTTTAACATT... | benign | 25,389 |
Variant at chromosome position 237550527, chromosome 1, gene RYR2 (ryanodine receptor 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TATCAAACTCACCCCATCACAAGAAGCAATGGTGGACAAGTTGGCAGAAAATGCACATAATGTGTGGGCGCGGGATCGAATCCGGCAGGGCTGGACTTATGGCATCCAACAGGTACATGGGAATTAGCATTTGGTCTGAGACTTACTTAAGTGGGAATTAGCATAATTTGTAACAGGAAGGATTACATAATGACTATTTTAAAACTTGTATCATATAGATCACATATAGTGCACATTTGGACTAAAACAGCTGTTTAATGCTAGACTCAAGAATTTACATGACCTTAGTTCTGGCTGTGATCGTGAACACATGTGAGGCA... | TATCAAACTCACCCCATCACAAGAAGCAATGGTGGACAAGTTGGCAGAAAATGCACATAATGTGTGGGCGCGGGATCGAATCCGGCAGGGCTGGACTTATGGCATCCAACAGGTACATGGGAATTAGCATTTGGTCTGAGACTTACTTAAGTGGGAATTAGCATAATTTGTAACAGGAAGGATTACATAATGACTATTTTAAAACTTGTATCATATAGATCACATATAGTGCACATTTGGACTAAAACAGCTGTTTAATGCTAGACTCAAGAATTTACATGACCTTAGTTCTGGCTGTGATCGTGAACACATGTGAGGCA... | benign | 25,429 |
Does the genetic variant at chromosome 1, position 237569325, impacting gene RYR2 (ryanodine receptor 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TACATGTGTAAAATATTTTGATCAGTAATATGGGCGAGGTGCCTGTAATCCCAGCACTTTGAGAGGCTGAGATGGAGGGATCACTTGGGGCTAGGAGTGCAAGACCAGCCTGGGCAACAAAGTAAGATCCTGTCTCTACAAAAAAAAAAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGCACTTGTGGTCCCAGCTACATACGAGGCTGAGGTGAGAGGATTGCTTGAGCTCGGGAGGTCGAGGCTGCAATGAGCCATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCTTGTCTCAAAACAA... | TACATGTGTAAAATATTTTGATCAGTAATATGGGCGAGGTGCCTGTAATCCCAGCACTTTGAGAGGCTGAGATGGAGGGATCACTTGGGGCTAGGAGTGCAAGACCAGCCTGGGCAACAAAGTAAGATCCTGTCTCTACAAAAAAAAAAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGCACTTGTGGTCCCAGCTACATACGAGGCTGAGGTGAGAGGATTGCTTGAGCTCGGGAGGTCGAGGCTGCAATGAGCCATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCTTGTCTCAAAACAA... | benign | 25,474 |
Evaluate if the mutation on chromosome 1 at position 237589774 in RYR2 (ryanodine receptor 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TAGACACTGAATATTTTAAATGAAAGTATTTCAAATATGCAGAAAAGTTTAGGTATTAGTGAAACAAATAGCCAAAGGTCAACTATACAGATATTTACAGCTATCCAATAACTTTCCATGTAGGCTAGGAACTCCTTCTACAAATAAAGTGATCAGAAAGAAATAGATGTTTACCATTTGAGGAAATGTTTCTATCTTGGTAGCTCCTAGTTTATGTTAAATGGGTGCTAGATTTACTAATTTCTGTTAATGCAGTTCAAGCTGTCTGAGATCTATTGTATTTACACAATACAATAGATTTTTTATTTGATTTGATTTCT... | TAGACACTGAATATTTTAAATGAAAGTATTTCAAATATGCAGAAAAGTTTAGGTATTAGTGAAACAAATAGCCAAAGGTCAACTATACAGATATTTACAGCTATCCAATAACTTTCCATGTAGGCTAGGAACTCCTTCTACAAATAAAGTGATCAGAAAGAAATAGATGTTTACCATTTGAGGAAATGTTTCTATCTTGGTAGCTCCTAGTTTATGTTAAATGGGTGCTAGATTTACTAATTTCTGTTAATGCAGTTCAAGCTGTCTGAGATCTATTGTATTTACACAATACAATAGATTTTTTATTTGATTTGATTTCT... | benign | 25,477 |
Is the chromosome 1, position 237602011 variant in RYR2 (ryanodine receptor 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTGGAAGAATTAATATTATTAAAATGTCCATAGTACAAAAAGTAATTACAGATTCAGTGAAGTCCCTATCAAAATACCAATGACATTATTATTCTATTATAGAAATAGAAAAAATAATTCTAAATTTCTTATGAAATCACAAAAGACCCCAAGCAGCCAAAGCAATCTTGAGCAAAAAGAATAAAGCTGGAAACATCACACTAACTGAGTTTAAAATACACAAAGCCATAGTAACCAAAACACTACCTGACTTGAAACTATACTACAAAGCTATGGTAACCAAAACAGACATATAGACCAATAAAACAGAACAGAGAACC... | TTGGAAGAATTAATATTATTAAAATGTCCATAGTACAAAAAGTAATTACAGATTCAGTGAAGTCCCTATCAAAATACCAATGACATTATTATTCTATTATAGAAATAGAAAAAATAATTCTAAATTTCTTATGAAATCACAAAAGACCCCAAGCAGCCAAAGCAATCTTGAGCAAAAAGAATAAAGCTGGAAACATCACACTAACTGAGTTTAAAATACACAAAGCCATAGTAACCAAAACACTACCTGACTTGAAACTATACTACAAAGCTATGGTAACCAAAACAGACATATAGACCAATAAAACAGAACAGAGAACC... | benign | 25,557 |
Is the variant located on chromosome 1 at position 237638339, gene RYR2 (ryanodine receptor 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGCTTTGTCCTGCCTTTAGAGAACAGTGTCAGCACTGGGTAGACACTTAGTGCATGGCTGTTGAAGACATGAAAGAGTGAAACTCTTCCCCAAATCCTCCTGACATACCAGTCCAGGATCATGAAGTCTTGCATCTCTGAGACACCTCAGGACATGTTTCCCCCGTATAGTACTTAAAATCTTTTAATCTACACACTCATTAAAATGGCCAATACTAATGCAGTTGATAATACCAAATGCTGAGAAGGACAAGGAGCAGCTAGAACTCTCTTCTACTTCTGTTGTGATGAGTAATGGTACAGCCAGTGTGGAAAGCAGTT... | TGCTTTGTCCTGCCTTTAGAGAACAGTGTCAGCACTGGGTAGACACTTAGTGCATGGCTGTTGAAGACATGAAAGAGTGAAACTCTTCCCCAAATCCTCCTGACATACCAGTCCAGGATCATGAAGTCTTGCATCTCTGAGACACCTCAGGACATGTTTCCCCCGTATAGTACTTAAAATCTTTTAATCTACACACTCATTAAAATGGCCAATACTAATGCAGTTGATAATACCAAATGCTGAGAAGGACAAGGAGCAGCTAGAACTCTCTTCTACTTCTGTTGTGATGAGTAATGGTACAGCCAGTGTGGAAAGCAGTT... | benign | 25,753 |
Is the genetic mutation found on chromosome 1 at position 237638470, within the gene RYR2 (ryanodine receptor 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATCTCTGAGACACCTCAGGACATGTTTCCCCCGTATAGTACTTAAAATCTTTTAATCTACACACTCATTAAAATGGCCAATACTAATGCAGTTGATAATACCAAATGCTGAGAAGGACAAGGAGCAGCTAGAACTCTCTTCTACTTCTGTTGTGATGAGTAATGGTACAGCCAGTGTGGAAAGCAGTTTGGCAGTTCCTTAACAAATTAAACATACACCTACCATAAACTATATGCCTAGCCTTTCCACTGCTAACAATTTACCCAGTAGAAAGGAAAATATATGTCCACACAAAGACTTGGGCATGAATGTTTCTAAC... | CATCTCTGAGACACCTCAGGACATGTTTCCCCCGTATAGTACTTAAAATCTTTTAATCTACACACTCATTAAAATGGCCAATACTAATGCAGTTGATAATACCAAATGCTGAGAAGGACAAGGAGCAGCTAGAACTCTCTTCTACTTCTGTTGTGATGAGTAATGGTACAGCCAGTGTGGAAAGCAGTTTGGCAGTTCCTTAACAAATTAAACATACACCTACCATAAACTATATGCCTAGCCTTTCCACTGCTAACAATTTACCCAGTAGAAAGGAAAATATATGTCCACACAAAGACTTGGGCATGAATGTTTCTAAC... | benign | 25,758 |
Is chromosome 1, position 237643306, gene RYR2 (ryanodine receptor 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCTCCCACATTTTAAGAAGAAAAGAACATATTTTCTCTATGCAATTTCCTCTTATGTTACAGTGCATCCAGAAAACAACTGCTCCTACCAAAAGTCATTTTCTTTTGTGTATTTAGCTCTATGTGTTTGCCATCGTTTTAGGGGAAAGTGAGAGGGAAGGTATAGGGGGTGGATATTAAGAGCTATTTAGACCATATAAATTAGTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTCTCTTTTTTTTTTTAATTGAGGCAAGGTCTTGCTCT... | CCTCCCACATTTTAAGAAGAAAAGAACATATTTTCTCTATGCAATTTCCTCTTATGTTACAGTGCATCCAGAAAACAACTGCTCCTACCAAAAGTCATTTTCTTTTGTGTATTTAGCTCTATGTGTTTGCCATCGTTTTAGGGGAAAGTGAGAGGGAAGGTATAGGGGGTGGATATTAAGAGCTATTTAGACCATATAAATTAGTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTCTCTTTTTTTTTTTAATTGAGGCAAGGTCTTGCTCT... | benign | 25,789 |
Gene RYR2 (ryanodine receptor 2) variant at chromosome 1, position 237660084—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TACATTCTAATTCAGTAGTCATTATTAATGACTGGTCACTGTTCAAATATTTCTGACCATGACAGTTTTCTGTTTTAAAATGAGAACTTGATCTAAATTAGGAAAAAATACTTAATTACAATTAGCTTATATAATAATATAATATTTAGCTAGCTCTATCATTAACACAAATATGATACCCTTATGAATAAGCACTATTTTAAGCTTTCAAAAGATCTATTCATTAAATTATAAATATAGTTTCTATAACATATATTGTTTATCAGAGTAAAAAAGCAACAATCACCAAGAGCTTCAGGAGGAAATGATGACTCCGGGTT... | TACATTCTAATTCAGTAGTCATTATTAATGACTGGTCACTGTTCAAATATTTCTGACCATGACAGTTTTCTGTTTTAAAATGAGAACTTGATCTAAATTAGGAAAAAATACTTAATTACAATTAGCTTATATAATAATATAATATTTAGCTAGCTCTATCATTAACACAAATATGATACCCTTATGAATAAGCACTATTTTAAGCTTTCAAAAGATCTATTCATTAAATTATAAATATAGTTTCTATAACATATATTGTTTATCAGAGTAAAAAAGCAACAATCACCAAGAGCTTCAGGAGGAAATGATGACTCCGGGTT... | benign | 25,884 |
Variant on chromosome 1, at position 237666504, affecting RYR2 (ryanodine receptor 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGGCTGCGGAGGCCTCACACTCATGGTGGAAGGTAACAGGCACATCTCACATGGTGGTAGACGAGAAGAATGAGGAACCAAGTGAGAGGGGTTTCCCCTTATGAAACCACCAGATCTTGTGAGACTTATTCACTACCACAAGAACAGTATGGAGGAAAATGCCCCTATGATTCAGTTATCTCCCACTGGGTACCCCCGACAATATGAGGGAATTATGGGAGCTACAATTCAAGAGGAGATTTGGGTGGGGACATAGACATAATAATGGATGAAGGGGAGTAACCCGAGATGGTTGCCATGGATTCTAGCTTGTGTCCCC... | GTGGCTGCGGAGGCCTCACACTCATGGTGGAAGGTAACAGGCACATCTCACATGGTGGTAGACGAGAAGAATGAGGAACCAAGTGAGAGGGGTTTCCCCTTATGAAACCACCAGATCTTGTGAGACTTATTCACTACCACAAGAACAGTATGGAGGAAAATGCCCCTATGATTCAGTTATCTCCCACTGGGTACCCCCGACAATATGAGGGAATTATGGGAGCTACAATTCAAGAGGAGATTTGGGTGGGGACATAGACATAATAATGGATGAAGGGGAGTAACCCGAGATGGTTGCCATGGATTCTAGCTTGTGTCCCC... | benign | 25,894 |
A genetic variant at chromosome 1, position 237717185, affecting gene RYR2 (ryanodine receptor 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGAAAATGAAAAAGTGTGCAAATTCATTAGCTTTAGCGGCTCTGTTTAAATTATTGAGCTGCGCCTATGAGCAAGGCACAGTGCGTGGCTTTGAATACAGAGAAACGACAAAACAGGTTTGGCAGCTGCCCCAAAGGAGCTGCATAGTTTGGGGAGGAAATAGGCACTAAACAAATGAACAAAAAATACCCAATATGTGCGTACAGGAGGATATTTTATTGCTTATAGATTTAATTTCCTCATATGAACAGTGACATCACCCATAAATGTTCAAATATTTACTACTCTTTCCAGTTATAGATTTCTTCTGGGGTGGAAAG... | TGAAAATGAAAAAGTGTGCAAATTCATTAGCTTTAGCGGCTCTGTTTAAATTATTGAGCTGCGCCTATGAGCAAGGCACAGTGCGTGGCTTTGAATACAGAGAAACGACAAAACAGGTTTGGCAGCTGCCCCAAAGGAGCTGCATAGTTTGGGGAGGAAATAGGCACTAAACAAATGAACAAAAAATACCCAATATGTGCGTACAGGAGGATATTTTATTGCTTATAGATTTAATTTCCTCATATGAACAGTGACATCACCCATAAATGTTCAAATATTTACTACTCTTTCCAGTTATAGATTTCTTCTGGGGTGGAAAG... | benign | 26,025 |
Regarding the variant found on chromosome 1 at position 237730373 in gene RYR2 (ryanodine receptor 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTTCTCAATTCTCTGACTCAATTATGCTGTCACCTTTTGGTCAGATAGAATATTAACCTTAATATCTAGAACCAGAAATACCATTTAACCCAGCAATCCCATGACTGGGTATATACCCAAAGGATTATAAATCATTCTACTATAAAGACACATGCACATGTATGTTTATTGCAGCACTGTTCACAATAGTAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAAAGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAAGAATGAGTTCATGTCCCTTGCAGGGACATGGAT... | CTTCTCAATTCTCTGACTCAATTATGCTGTCACCTTTTGGTCAGATAGAATATTAACCTTAATATCTAGAACCAGAAATACCATTTAACCCAGCAATCCCATGACTGGGTATATACCCAAAGGATTATAAATCATTCTACTATAAAGACACATGCACATGTATGTTTATTGCAGCACTGTTCACAATAGTAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAAAGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAAGAATGAGTTCATGTCCCTTGCAGGGACATGGAT... | benign | 26,073 |
The genetic variant at chromosome 1, position 237742270, affecting gene RYR2 (ryanodine receptor 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | CTGCTAGAAATCTGATACCTTTTTTGTTTGTGTGATCTTAGCATATTCTCAAGCTAATTAGTAGAAGTTTAAAGTAGTTTTTATAGGTTTGGTGAATTTGTCAGATACAGTCTGTACACCAAGTAAATTCAGGTTTAATAGTTTTTAAAAATCACAAATTTTAACTTCATTAGGAGCAAATCTCATTAAATTTTCCTAGGAAGATTTTTTTAAAACAGTTAAAATATTTTATTTCAAAATACTTTTTTATTAAAAATTTTTTTCAGCTAGTGCTTTAAATGGATTATCCCTTTGTACAAAAGCAAACATGGCTTATGAAT... | CTGCTAGAAATCTGATACCTTTTTTGTTTGTGTGATCTTAGCATATTCTCAAGCTAATTAGTAGAAGTTTAAAGTAGTTTTTATAGGTTTGGTGAATTTGTCAGATACAGTCTGTACACCAAGTAAATTCAGGTTTAATAGTTTTTAAAAATCACAAATTTTAACTTCATTAGGAGCAAATCTCATTAAATTTTCCTAGGAAGATTTTTTTAAAACAGTTAAAATATTTTATTTCAAAATACTTTTTTATTAAAAATTTTTTTCAGCTAGTGCTTTAAATGGATTATCCCTTTGTACAAAAGCAAACATGGCTTATGAAT... | benign | 26,087 |
Determine whether the variant at chromosome 1, position 237742270, in gene RYR2 (ryanodine receptor 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTGCTAGAAATCTGATACCTTTTTTGTTTGTGTGATCTTAGCATATTCTCAAGCTAATTAGTAGAAGTTTAAAGTAGTTTTTATAGGTTTGGTGAATTTGTCAGATACAGTCTGTACACCAAGTAAATTCAGGTTTAATAGTTTTTAAAAATCACAAATTTTAACTTCATTAGGAGCAAATCTCATTAAATTTTCCTAGGAAGATTTTTTTAAAACAGTTAAAATATTTTATTTCAAAATACTTTTTTATTAAAAATTTTTTTCAGCTAGTGCTTTAAATGGATTATCCCTTTGTACAAAAGCAAACATGGCTTATGAAT... | CTGCTAGAAATCTGATACCTTTTTTGTTTGTGTGATCTTAGCATATTCTCAAGCTAATTAGTAGAAGTTTAAAGTAGTTTTTATAGGTTTGGTGAATTTGTCAGATACAGTCTGTACACCAAGTAAATTCAGGTTTAATAGTTTTTAAAAATCACAAATTTTAACTTCATTAGGAGCAAATCTCATTAAATTTTCCTAGGAAGATTTTTTTAAAACAGTTAAAATATTTTATTTCAAAATACTTTTTTATTAAAAATTTTTTTCAGCTAGTGCTTTAAATGGATTATCCCTTTGTACAAAAGCAAACATGGCTTATGAAT... | benign | 26,088 |
Variant in gene RYR2 (ryanodine receptor 2), located at chromosome 1 position 237759858: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTCAGACAAATGGACCATATAGTAAAGAACTATTTGTTGTAAAATGTTTTATTTTCTATGTACAATATGGCTCAATTTTAGTTTACCACAGTACTGAAGAGAGAGCAAAAGAGGGAAAAAGTAATTATGTGATAGTGTTACAAATCCAAACATAAAATGATGTCAAAATATCTGAAAACATCAAGTGTGACCTTTTATCATGTCAAATGAATTCTGGTGCTGAGGTATGAACCACTCTCTCACCATGCGTTTACCAAACTGTGGCTCTCTGGTTATGGAACCTGGCAGGGGTAACCAGCTCGTTCTGTTCCCAGAATAAG... | TTCAGACAAATGGACCATATAGTAAAGAACTATTTGTTGTAAAATGTTTTATTTTCTATGTACAATATGGCTCAATTTTAGTTTACCACAGTACTGAAGAGAGAGCAAAAGAGGGAAAAAGTAATTATGTGATAGTGTTACAAATCCAAACATAAAATGATGTCAAAATATCTGAAAACATCAAGTGTGACCTTTTATCATGTCAAATGAATTCTGGTGCTGAGGTATGAACCACTCTCTCACCATGCGTTTACCAAACTGTGGCTCTCTGGTTATGGAACCTGGCAGGGGTAACCAGCTCGTTCTGTTCCCAGAATAAG... | benign | 26,118 |
Variant on chromosome 1, at position 237778773, affecting RYR2 (ryanodine receptor 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATGGGGAAGGAAAGGTCTCTTCCGGGGCACATGTAATCCCAGAGTGCACCACGGAGCTGGCCCTCTGGTGTGGTGTGTTGTATTTTTTTATCTAACGTGCGAGCCTGGCCCTCTTAGTCCTCCAGTGCCTGGAAATGACTCTTTTCCCATCCAGTTTAAAGTTATTCAATCAGACCTCAAGCATCTGGTGGCCCCCATCCACCTTGGAATTATGTTACCATTTCAGACTGATTTCAGATGGGGCAGAATGGCCCCTTCCTGAGTAGTCCATATAAGAAACACATCTTTCTTGTCATATGCTGTCTGTCACACTTTCTAAT... | ATGGGGAAGGAAAGGTCTCTTCCGGGGCACATGTAATCCCAGAGTGCACCACGGAGCTGGCCCTCTGGTGTGGTGTGTTGTATTTTTTTATCTAACGTGCGAGCCTGGCCCTCTTAGTCCTCCAGTGCCTGGAAATGACTCTTTTCCCATCCAGTTTAAAGTTATTCAATCAGACCTCAAGCATCTGGTGGCCCCCATCCACCTTGGAATTATGTTACCATTTCAGACTGATTTCAGATGGGGCAGAATGGCCCCTTCCTGAGTAGTCCATATAAGAAACACATCTTTCTTGTCATATGCTGTCTGTCACACTTTCTAAT... | benign | 26,165 |
Variant in RYR2 (ryanodine receptor 2), chromosome 1, position 237778782—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GAAAGGTCTCTTCCGGGGCACATGTAATCCCAGAGTGCACCACGGAGCTGGCCCTCTGGTGTGGTGTGTTGTATTTTTTTATCTAACGTGCGAGCCTGGCCCTCTTAGTCCTCCAGTGCCTGGAAATGACTCTTTTCCCATCCAGTTTAAAGTTATTCAATCAGACCTCAAGCATCTGGTGGCCCCCATCCACCTTGGAATTATGTTACCATTTCAGACTGATTTCAGATGGGGCAGAATGGCCCCTTCCTGAGTAGTCCATATAAGAAACACATCTTTCTTGTCATATGCTGTCTGTCACACTTTCTAATACCAGACCT... | GAAAGGTCTCTTCCGGGGCACATGTAATCCCAGAGTGCACCACGGAGCTGGCCCTCTGGTGTGGTGTGTTGTATTTTTTTATCTAACGTGCGAGCCTGGCCCTCTTAGTCCTCCAGTGCCTGGAAATGACTCTTTTCCCATCCAGTTTAAAGTTATTCAATCAGACCTCAAGCATCTGGTGGCCCCCATCCACCTTGGAATTATGTTACCATTTCAGACTGATTTCAGATGGGGCAGAATGGCCCCTTCCTGAGTAGTCCATATAAGAAACACATCTTTCTTGTCATATGCTGTCTGTCACACTTTCTAATACCAGACCT... | benign | 26,166 |
Variant in RYR2 (ryanodine receptor 2), chromosome 1, position 237792330—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TAAATACAACCCAACGATAATTATTCTCAGTTGTTCCAAATACATCGAGTCTGCCCAGTTCTTGCCATCTCCACAGGTACCATTAAGTCCAATCCACCACCATGAACCTCACCTCTGCCTGACGTCTTGTACTAACTTTCTAACGGGTCCTCTTGCTTTCACTGTTGTTCCACTGCTATCAGTTTTCACATAGTAGCTGGAGTGGGCCTTCCAAATCATAATCCAACTGCACCAAGTCCTCCTGAAATCCTCTAATAGCTTCCCATCCCACCTAGAATAAAATAATAATTATACTGGAATATTACATTTATTATAGATAA... | TAAATACAACCCAACGATAATTATTCTCAGTTGTTCCAAATACATCGAGTCTGCCCAGTTCTTGCCATCTCCACAGGTACCATTAAGTCCAATCCACCACCATGAACCTCACCTCTGCCTGACGTCTTGTACTAACTTTCTAACGGGTCCTCTTGCTTTCACTGTTGTTCCACTGCTATCAGTTTTCACATAGTAGCTGGAGTGGGCCTTCCAAATCATAATCCAACTGCACCAAGTCCTCCTGAAATCCTCTAATAGCTTCCCATCCCACCTAGAATAAAATAATAATTATACTGGAATATTACATTTATTATAGATAA... | benign | 26,330 |
A genetic variant on chromosome 1, position 237793860, affects the gene RYR2 (ryanodine receptor 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTATTATATTACATTCTTTTGTAATTGAGAAGAGAGCTTAGCCATCTAATTTTTTAGCATGCATTGGAATCCTCAGAATTTTTGGTTGAATAAGAATGAATTTTAAAAGTATGTTCATTACTTGCCTTTGGTTTTTGAAAAGCTATCGTTTTTAGCCTTTGCTATTAGTCCTTTCATTATGCAGTGACTTCACATCCAACTATTTGCTGAAAAGGCTGTATTTCTTTTGTCTTTTGCTTGCAATGGTATCTTAGATGCAGCAAACTGACTCTACTTTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGAAGGA... | GTATTATATTACATTCTTTTGTAATTGAGAAGAGAGCTTAGCCATCTAATTTTTTAGCATGCATTGGAATCCTCAGAATTTTTGGTTGAATAAGAATGAATTTTAAAAGTATGTTCATTACTTGCCTTTGGTTTTTGAAAAGCTATCGTTTTTAGCCTTTGCTATTAGTCCTTTCATTATGCAGTGACTTCACATCCAACTATTTGCTGAAAAGGCTGTATTTCTTTTGTCTTTTGCTTGCAATGGTATCTTAGATGCAGCAAACTGACTCTACTTTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGAAGGA... | benign | 26,341 |
Evaluate this variant at chromosome 1, position 237801833, gene RYR2 (ryanodine receptor 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCACCTTTAAATAAGTGGCCAGCTCCATTCCTGGGGGTGGAATAGCTGCAAGCAGTCTGGAAGGCTGCAGGTGTCTTCATTTGCGTCCTCACTGGGGAGGAAAGGAGCTCATGTCTCAAAACATCTCCAAAACTCACCTTCCTGGTTATAGTTTACCCTTGACTGGAGCTTTGGAGTCCCCCCGCCCCCCAACCAGGAAGGCCGTGTTCTGATTGGCTTAGCTCAGCCATGGCCCTCCCCCAGAGGTGGGGTCAGCCTCACCGAAACAAACAGCATGGCTGCCACCTACGGGTGAGAAATGAGTGCTGTGTGATACTGAT... | GCACCTTTAAATAAGTGGCCAGCTCCATTCCTGGGGGTGGAATAGCTGCAAGCAGTCTGGAAGGCTGCAGGTGTCTTCATTTGCGTCCTCACTGGGGAGGAAAGGAGCTCATGTCTCAAAACATCTCCAAAACTCACCTTCCTGGTTATAGTTTACCCTTGACTGGAGCTTTGGAGTCCCCCCGCCCCCCAACCAGGAAGGCCGTGTTCTGATTGGCTTAGCTCAGCCATGGCCCTCCCCCAGAGGTGGGGTCAGCCTCACCGAAACAAACAGCATGGCTGCCACCTACGGGTGAGAAATGAGTGCTGTGTGATACTGAT... | benign | 26,371 |
Considering the genetic mutation at chromosome 1, position 237801833, impacting RYR2 (ryanodine receptor 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GCACCTTTAAATAAGTGGCCAGCTCCATTCCTGGGGGTGGAATAGCTGCAAGCAGTCTGGAAGGCTGCAGGTGTCTTCATTTGCGTCCTCACTGGGGAGGAAAGGAGCTCATGTCTCAAAACATCTCCAAAACTCACCTTCCTGGTTATAGTTTACCCTTGACTGGAGCTTTGGAGTCCCCCCGCCCCCCAACCAGGAAGGCCGTGTTCTGATTGGCTTAGCTCAGCCATGGCCCTCCCCCAGAGGTGGGGTCAGCCTCACCGAAACAAACAGCATGGCTGCCACCTACGGGTGAGAAATGAGTGCTGTGTGATACTGAT... | GCACCTTTAAATAAGTGGCCAGCTCCATTCCTGGGGGTGGAATAGCTGCAAGCAGTCTGGAAGGCTGCAGGTGTCTTCATTTGCGTCCTCACTGGGGAGGAAAGGAGCTCATGTCTCAAAACATCTCCAAAACTCACCTTCCTGGTTATAGTTTACCCTTGACTGGAGCTTTGGAGTCCCCCCGCCCCCCAACCAGGAAGGCCGTGTTCTGATTGGCTTAGCTCAGCCATGGCCCTCCCCCAGAGGTGGGGTCAGCCTCACCGAAACAAACAGCATGGCTGCCACCTACGGGTGAGAAATGAGTGCTGTGTGATACTGAT... | benign | 26,372 |
Considering the variant on chromosome 1, location 237801833, involving gene RYR2 (ryanodine receptor 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCACCTTTAAATAAGTGGCCAGCTCCATTCCTGGGGGTGGAATAGCTGCAAGCAGTCTGGAAGGCTGCAGGTGTCTTCATTTGCGTCCTCACTGGGGAGGAAAGGAGCTCATGTCTCAAAACATCTCCAAAACTCACCTTCCTGGTTATAGTTTACCCTTGACTGGAGCTTTGGAGTCCCCCCGCCCCCCAACCAGGAAGGCCGTGTTCTGATTGGCTTAGCTCAGCCATGGCCCTCCCCCAGAGGTGGGGTCAGCCTCACCGAAACAAACAGCATGGCTGCCACCTACGGGTGAGAAATGAGTGCTGTGTGATACTGAT... | GCACCTTTAAATAAGTGGCCAGCTCCATTCCTGGGGGTGGAATAGCTGCAAGCAGTCTGGAAGGCTGCAGGTGTCTTCATTTGCGTCCTCACTGGGGAGGAAAGGAGCTCATGTCTCAAAACATCTCCAAAACTCACCTTCCTGGTTATAGTTTACCCTTGACTGGAGCTTTGGAGTCCCCCCGCCCCCCAACCAGGAAGGCCGTGTTCTGATTGGCTTAGCTCAGCCATGGCCCTCCCCCAGAGGTGGGGTCAGCCTCACCGAAACAAACAGCATGGCTGCCACCTACGGGTGAGAAATGAGTGCTGTGTGATACTGAT... | benign | 26,373 |
Variant at chromosome position 237819025, chromosome 1, gene RYR2 (ryanodine receptor 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGGTTAGGCTTAGACCCTATCAGCCTAATCTGGCTCTAAGGATCTCCTGACCTTTCTGCAAAAGAGACCCCTAACCTGGGCTCCAGATCAGATCTTGGGTGGGCACTGGCTGAGCTGGCCTTATAATGCTCTTTATTATATGCCAGGCTGAGTCTACAACCATACGACCCTGAATGTGCCCAATCTCATCCTTGTATGCCAGGCTGATAAAACGTTTCCAAATGACACATTTAATTCTGTTCCCTAAATTCCAGCCATCTAACCCAGGAGACTTTTTCTCCTCTGCATCTAACAGATCCATCAGCTGTTGAACTCATAGT... | AGGTTAGGCTTAGACCCTATCAGCCTAATCTGGCTCTAAGGATCTCCTGACCTTTCTGCAAAAGAGACCCCTAACCTGGGCTCCAGATCAGATCTTGGGTGGGCACTGGCTGAGCTGGCCTTATAATGCTCTTTATTATATGCCAGGCTGAGTCTACAACCATACGACCCTGAATGTGCCCAATCTCATCCTTGTATGCCAGGCTGATAAAACGTTTCCAAATGACACATTTAATTCTGTTCCCTAAATTCCAGCCATCTAACCCAGGAGACTTTTTCTCCTCTGCATCTAACAGATCCATCAGCTGTTGAACTCATAGT... | benign | 26,414 |
Clinical significance of chromosome 1, position 237833281, gene RYR2 (ryanodine receptor 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATTAAGCTAGTCTTCAGTTCTAATTCATCAGTGTTGATTTGATTCTGACCAGTGTGTATATTCCTAACTTGAAGCCTCTAGGGTCAAATAGCAACAGATCAGAAAAGTCAGGTCCACAGCCTTTCCTCTTTCTGGTACACTAATTTTTCCAAAAATTTGCATGTGGCGTTTTCTCTGTGCTGGCCATAATTGATTGCAACCATACAATTTATCTAAATATGCCCTGTTTATCCTAATATTTCCATACCGTTCATTTCTGATCAGTTTCTCTGTATCTGTAGGTTTTTTCTGATGTATCTTATAAACAAAGATGAAACAGA... | ATTAAGCTAGTCTTCAGTTCTAATTCATCAGTGTTGATTTGATTCTGACCAGTGTGTATATTCCTAACTTGAAGCCTCTAGGGTCAAATAGCAACAGATCAGAAAAGTCAGGTCCACAGCCTTTCCTCTTTCTGGTACACTAATTTTTCCAAAAATTTGCATGTGGCGTTTTCTCTGTGCTGGCCATAATTGATTGCAACCATACAATTTATCTAAATATGCCCTGTTTATCCTAATATTTCCATACCGTTCATTTCTGATCAGTTTCTCTGTATCTGTAGGTTTTTTCTGATGTATCTTATAAACAAAGATGAAACAGA... | benign | 26,467 |
Is the genetic change at chromosome 1, position 237833534, within gene RYR2 (ryanodine receptor 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTCTGATCAGTTTCTCTGTATCTGTAGGTTTTTTCTGATGTATCTTATAAACAAAGATGAAACAGAACACACAGGACAGGTAGGTAAATTATTACATGTCATCTTCTGAAAGAAATGATAGAGAAGCTCTAAATATCAGAACAAAATGTGTGCATTAAACAGTGAGGCACGGAATTACTTTCAGATATTAGTTGTGGTATCTTGATGTAAAGTTCCTGTTATGTTGAATGAGTATGGAAAAGATTGCCTTTGTTAAAGTAGAATTCTGTACTAAGTTTATGTAACACAATAAGCTTTTACTAACTGAAAATGCTGGATT... | TTTCTGATCAGTTTCTCTGTATCTGTAGGTTTTTTCTGATGTATCTTATAAACAAAGATGAAACAGAACACACAGGACAGGTAGGTAAATTATTACATGTCATCTTCTGAAAGAAATGATAGAGAAGCTCTAAATATCAGAACAAAATGTGTGCATTAAACAGTGAGGCACGGAATTACTTTCAGATATTAGTTGTGGTATCTTGATGTAAAGTTCCTGTTATGTTGAATGAGTATGGAAAAGATTGCCTTTGTTAAAGTAGAATTCTGTACTAAGTTTATGTAACACAATAAGCTTTTACTAACTGAAAATGCTGGATT... | benign | 26,471 |
A genetic variant at chromosome 1, position 240092766, affecting gene FMN2 (formin 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TTTTGAAAATATTAATAAGTTGGATGTCTATTCCATATTTTCAAAGTGGTTATCAATGACTTTTACTTAAATACTTGTAAAACTTATTAATGCCACTTTAATCTCAGTTTACTGCTTAAAGCTTTAGATATCCATATTTTTTTAAAAAAACTATTCTTAAAAAATAGGTAACTAAATTTAATAAATAATGAAAACAATGACAAAATATTCAATGAGGAAAAATGTTTATCCCCATATTGTGGCCAGAACGTTAAGAAACTTTTACAGGACGAAGTCTGCCTGGAAGGGTTTGCTTGGGAAAGTGGTAGTTTATAGCATAA... | TTTTGAAAATATTAATAAGTTGGATGTCTATTCCATATTTTCAAAGTGGTTATCAATGACTTTTACTTAAATACTTGTAAAACTTATTAATGCCACTTTAATCTCAGTTTACTGCTTAAAGCTTTAGATATCCATATTTTTTTAAAAAAACTATTCTTAAAAAATAGGTAACTAAATTTAATAAATAATGAAAACAATGACAAAATATTCAATGAGGAAAAATGTTTATCCCCATATTGTGGCCAGAACGTTAAGAAACTTTTACAGGACGAAGTCTGCCTGGAAGGGTTTGCTTGGGAAAGTGGTAGTTTATAGCATAA... | benign | 26,492 |
Gene FH (fumarate hydratase) variant at chromosome 1, position 241497605—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TTCTCAATCTTGGCATTATTGACATCTTGAGCCAGAAAAGTCTTTGTTGTGGGCGGAGGGGCTCTCCTGTGCATTAACATTTAGCGGCATCTCTGGCTTCTGCCCAATTAGAGCCAGTAGCACCCCCCTCCTCTGTGATGACAACCAAACATGTCTCCAGACATTGCCAAATGTCCCCTGGGAGACAAAATTGCCCCTAGCGAAAAAACATGGAAGTTGACTTTCGGAACAACCCTCCAACAGGGAATTCTACAAGCCTTATTTAGATTGCATCATAAAGCGGTTTCACTTCACTAACATCACACAAAGATGACTGCCAA... | TTCTCAATCTTGGCATTATTGACATCTTGAGCCAGAAAAGTCTTTGTTGTGGGCGGAGGGGCTCTCCTGTGCATTAACATTTAGCGGCATCTCTGGCTTCTGCCCAATTAGAGCCAGTAGCACCCCCCTCCTCTGTGATGACAACCAAACATGTCTCCAGACATTGCCAAATGTCCCCTGGGAGACAAAATTGCCCCTAGCGAAAAAACATGGAAGTTGACTTTCGGAACAACCCTCCAACAGGGAATTCTACAAGCCTTATTTAGATTGCATCATAAAGCGGTTTCACTTCACTAACATCACACAAAGATGACTGCCAA... | benign | 26,562 |
Assess the variant on chromosome 1, position 241497882, impacting FH (fumarate hydratase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_leiomyomatosis_and_renal_cell_cancer'] | AAGCGGTTTCACTTCACTAACATCACACAAAGATGACTGCCAACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTC... | AAGCGGTTTCACTTCACTAACATCACACAAAGATGACTGCCAACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTC... | pathogenic | 26,570 |
Chromosome 1, position 241497884, gene FH (fumarate hydratase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GCGGTTTCACTTCACTAACATCACACAAAGATGACTGCCAACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCA... | GCGGTTTCACTTCACTAACATCACACAAAGATGACTGCCAACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCA... | pathogenic | 26,571 |
Is chromosome 1, position 241497891, gene FH (fumarate hydratase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | CACTTCACTAACATCACACAAAGATGACTGCCAACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCAATAAAAA... | CACTTCACTAACATCACACAAAGATGACTGCCAACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCAATAAAAA... | pathogenic | 26,574 |
Variant at chromosome position 241497923, chromosome 1, gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | AACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCAATAAAAATCTTTTTCTAAAAAAAACCAAACAGAATGTGC... | AACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCAATAAAAATCTTTTTCTAAAAAAAACCAAACAGAATGTGC... | pathogenic | 26,582 |
Chromosome 1, position 241497960, gene FH (fumarate hydratase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCAATAAAAATCTTTTTCTAAAAAAAACCAAACAGAATGTGCCAACGGAAAGCATGCTTTGTTTTAAAGCAAGCTACAC... | GATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCAATAAAAATCTTTTTCTAAAAAAAACCAAACAGAATGTGCCAACGGAAAGCATGCTTTGTTTTAAAGCAAGCTACAC... | pathogenic | 26,591 |
Chromosome 1, position 241500456, gene FH (fumarate hydratase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GGTGAGTGGCTCTGAGAGGGGAGAAGTCCTCGCAGTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATA... | GGTGAGTGGCTCTGAGAGGGGAGAAGTCCTCGCAGTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATA... | pathogenic | 26,610 |
Variant in gene FH (fumarate hydratase), located at chromosome 1 position 241500468: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | TGAGAGGGGAGAAGTCCTCGCAGTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATA... | TGAGAGGGGAGAAGTCCTCGCAGTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATA... | pathogenic | 26,613 |
A genetic alteration at chromosome 1, position 241500479, in gene FH (fumarate hydratase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAGTCCTCGCAGTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAA... | AAGTCCTCGCAGTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAA... | pathogenic | 26,615 |
For chromosome 1, position 241500490, gene FH (fumarate hydratase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGG... | GTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGG... | pathogenic | 26,620 |
The chromosome 1, position 241500533 genetic variant in gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGA... | GCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGA... | pathogenic | 26,634 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 241500539, gene FH (fumarate hydratase): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATA... | TCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATA... | pathogenic | 26,636 |
Chromosome 1, position 241500579, gene FH (fumarate hydratase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCAT... | TTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCAT... | pathogenic | 26,646 |
Does the genetic variant at chromosome 1, position 241500593, impacting gene FH (fumarate hydratase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCAT... | CTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCAT... | benign | 26,649 |
Variant at chromosome 1, position 241500598, gene FH (fumarate hydratase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTC... | CCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTC... | benign | 26,652 |
Variant at chromosome position 241500602, chromosome 1, gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | benign | 26,654 |
Is the variant located on chromosome 1 at position 241500602, gene FH (fumarate hydratase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | benign | 26,655 |
Does the genetic variant at chromosome 1, position 241500602, impacting gene FH (fumarate hydratase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | benign | 26,656 |
Clinically, how would you classify the variant at chromosome 1, position 241500602, gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | benign | 26,657 |
Variant on chromosome 1, at position 241500602, affecting FH (fumarate hydratase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | GACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAGATCAGAGAAATATGACCAAAAGGAAGAAGCTTGCTGAGGCAGTATACATCATCAATAAGATGGCATGTGTCAATA... | benign | 26,658 |
A genetic variant at chromosome 1, position 241502469, affecting gene FH (fumarate hydratase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | TTCCTTAAACACTTACCTATATGAGGATTGAGAGCTGTCACCAACATTAGAGACTCATTCATCAGCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAA... | TTCCTTAAACACTTACCTATATGAGGATTGAGAGCTGTCACCAACATTAGAGACTCATTCATCAGCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAA... | pathogenic | 26,666 |
Regarding the variant at chromosome 1 and position 241502497, affecting gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGAGAGCTGTCACCAACATTAGAGACTCATTCATCAGCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGA... | TGAGAGCTGTCACCAACATTAGAGACTCATTCATCAGCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGA... | pathogenic | 26,675 |
Chromosome 1, position 241502540, gene FH (fumarate hydratase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAAAGCATGAACATTTGAAGGCACAGAAATCTAAAAAAGGT... | GATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAAAGCATGAACATTTGAAGGCACAGAAATCTAAAAAAGGT... | pathogenic | 26,685 |
Located at chromosome 1 position 241502540, the variant affecting gene FH (fumarate hydratase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAAAGCATGAACATTTGAAGGCACAGAAATCTAAAAAAGGT... | GATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAAAGCATGAACATTTGAAGGCACAGAAATCTAAAAAAGGT... | pathogenic | 26,686 |
A mutation at chromosome position 241502550 on chromosome 1 in gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAAAGCATGAACATTTGAAGGCACAGAAATCTAAAAAAGGTGAAAAAGACA... | GTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAAAGCATGAACATTTGAAGGCACAGAAATCTAAAAAAGGTGAAAAAGACA... | pathogenic | 26,688 |
Located at chromosome 1 position 241502559, the variant affecting gene FH (fumarate hydratase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAAAGCATGAACATTTGAAGGCACAGAAATCTAAAAAAGGTGAAAAAGACATAAATACAA... | TGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAAAGCATGAACATTTGAAGGCACAGAAATCTAAAAAAGGTGAAAAAGACATAAATACAA... | pathogenic | 26,690 |
Variant in FH (fumarate hydratase), chromosome 1, position 241504063—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | AAGAACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTT... | AAGAACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTT... | pathogenic | 26,708 |
Variant on chromosome 1, at position 241504067, affecting FH (fumarate hydratase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome'] | ACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGT... | ACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGT... | pathogenic | 26,711 |
Determine whether the variant at chromosome 1, position 241504093, in gene FH (fumarate hydratase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCAC... | GAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCAC... | pathogenic | 26,719 |
For chromosome 1, position 241504108, gene FH (fumarate hydratase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGA... | GAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGA... | pathogenic | 26,723 |
Variant chromosome 1, position 241504149, gene FH (fumarate hydratase): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATT... | CTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATT... | pathogenic | 26,733 |
Is the genetic variant on chromosome 1, position 241504230, gene FH (fumarate hydratase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACTCAAAATGTCCATTGCTGCCTCCGACAGTGACAG... | TGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACTCAAAATGTCCATTGCTGCCTCCGACAGTGACAG... | pathogenic | 26,760 |
Assess the variant on chromosome 1, position 241504231, impacting FH (fumarate hydratase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACTCAAAATGTCCATTGCTGCCTCCGACAGTGACAGC... | GAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACTCAAAATGTCCATTGCTGCCTCCGACAGTGACAGC... | pathogenic | 26,761 |
Evaluate this variant at chromosome 1, position 241504239, gene FH (fumarate hydratase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACTCAAAATGTCCATTGCTGCCTCCGACAGTGACAGCAACATGGT... | GACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACTCAAAATGTCCATTGCTGCCTCCGACAGTGACAGCAACATGGT... | pathogenic | 26,765 |
Is the chromosome 1, position 241505995 variant in FH (fumarate hydratase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_leiomyomatosis_and_renal_cell_cancer'] | GGATAACTTTAAACAAAGAGAGACATGGTCCATAGCTAAGAATGCCTAGGACCTAGTCAAGTTTTAGCTCCAACATTTACTAGCTATGTGATTACCTGGCATGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCC... | GGATAACTTTAAACAAAGAGAGACATGGTCCATAGCTAAGAATGCCTAGGACCTAGTCAAGTTTTAGCTCCAACATTTACTAGCTATGTGATTACCTGGCATGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCC... | pathogenic | 26,774 |
Classify the chromosome 1 variant at position 241506027 affecting gene FH (fumarate hydratase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | TAGCTAAGAATGCCTAGGACCTAGTCAAGTTTTAGCTCCAACATTTACTAGCTATGTGATTACCTGGCATGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTT... | TAGCTAAGAATGCCTAGGACCTAGTCAAGTTTTAGCTCCAACATTTACTAGCTATGTGATTACCTGGCATGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTT... | pathogenic | 26,779 |
Gene mutation in FH (fumarate hydratase) at chromosome 1, position 241506079—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | TATGTGATTACCTGGCATGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAAT... | TATGTGATTACCTGGCATGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAAT... | pathogenic | 26,786 |
Does the genetic variant at chromosome 1, position 241506096, impacting gene FH (fumarate hydratase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_leiomyomatosis_and_renal_cell_cancer'] | TGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAA... | TGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAA... | pathogenic | 26,790 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 241506100, gene FH (fumarate hydratase): what disease(s) if pathogenic? | pathogenic; ['Fumarase_deficiency', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | ACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTT... | ACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTT... | pathogenic | 26,793 |
Is the genetic mutation found on chromosome 1 at position 241506101, within the gene FH (fumarate hydratase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTTT... | CTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTTT... | pathogenic | 26,794 |
Clinical classification of chromosome 1, position 241506109, gene FH (fumarate hydratase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTTTACTTAAGA... | TGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTTTACTTAAGA... | pathogenic | 26,795 |
Regarding the variant found on chromosome 1 at position 241506125 in gene FH (fumarate hydratase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTTTACTTAAGACTCAAATTTTGTCTAC... | AAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTTTACTTAAGACTCAAATTTTGTCTAC... | pathogenic | 26,798 |
Clinical significance of chromosome 1, position 241508599, gene FH (fumarate hydratase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_leiomyomatosis_and_renal_cell_cancer'] | ACTTTGGTGTAAGAAAAAATAGTAACTCATCTCCCCCAAAAAAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAAT... | ACTTTGGTGTAAGAAAAAATAGTAACTCATCTCCCCCAAAAAAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAAT... | pathogenic | 26,816 |
Determine if the mutation at chromosome 1, position 241508603 in gene FH (fumarate hydratase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic | TGGTGTAAGAAAAAATAGTAACTCATCTCCCCCAAAAAAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTC... | TGGTGTAAGAAAAAATAGTAACTCATCTCCCCCAAAAAAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTC... | pathogenic | 26,821 |
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