家族性高コレステロール血症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000527.5(LDLR):c.172del (p.Glu58fs)	LDLR	Pathogenic	19	11211003	11211003	TG	T	criteria provided, single submitter	ClinGen:CA10584774,LDLR-LOVD, British Heart Foundation:LDLR_001504
single nucleotide variant	NM_000527.5(LDLR):c.173A>G (p.Glu58Gly)	LDLR	Likely pathogenic	19	11211004	11211004	A	G	criteria provided, single submitter	ClinGen:CA10584775,LDLR-LOVD, British Heart Foundation:LDLR_001514
Insertion	NM_000527.5(LDLR):c.185_186insT (p.Cys63fs)	LDLR	Pathogenic	19	11211016	11211017	C	CT	criteria provided, single submitter	ClinGen:CA10584776,LDLR-LOVD, British Heart Foundation:LDLR_001534
single nucleotide variant	NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)	LDLR	Pathogenic/Likely pathogenic	19	11211018	11211018	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584777,LDLR-LOVD, British Heart Foundation:LDLR_000978
single nucleotide variant	NM_000527.5(LDLR):c.190+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11211022	11211022	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584779,LDLR-LOVD, British Heart Foundation:LDLR_000025
single nucleotide variant	NM_000527.5(LDLR):c.190+1G>T	LDLR	Likely pathogenic	19	11211022	11211022	G	T	criteria provided, single submitter	ClinGen:CA10584780,LDLR-LOVD, British Heart Foundation:LDLR_000672
single nucleotide variant	NM_000527.5(LDLR):c.190+2T>G	LDLR	Likely pathogenic	19	11211023	11211023	T	G	criteria provided, single submitter	ClinGen:CA10584781,LDLR-LOVD, British Heart Foundation:LDLR_001021
Deletion	NM_000527.4(LDLR):c.190+984_1846-1160del	LDLR	Pathogenic	19	11212005	11229608	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000031
Deletion	NM_000527.5(LDLR):c.191-512_940+631del	LDLR	Pathogenic	19	11212821	11218814	GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCT	G	criteria provided, single submitter	ClinGen:CA10584784,LDLR-LOVD, British Heart Foundation:LDLR_001227
Indel	NM_000527.5(LDLR):c.191-2delinsCT	LDLR	Pathogenic/Likely pathogenic	19	11213338	11213338	A	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584786,LDLR-LOVD, British Heart Foundation:LDLR_000818