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
single nucleotide variant	NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)	LDLR	Pathogenic/Likely pathogenic	19	11213459	11213459	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584837,LDLR-LOVD, British Heart Foundation:LDLR_001691
Deletion	NM_000527.5(LDLR):c.310_313del (p.Cys104fs)	LDLR	Pathogenic	19	11213459	11213462	GCTGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584838,LDLR-LOVD, British Heart Foundation:LDLR_001690
single nucleotide variant	NM_000527.5(LDLR):c.312T>G (p.Cys104Trp)	LDLR	Likely pathogenic	19	11213461	11213461	T	G	criteria provided, single submitter	ClinGen:CA10584840,LDLR-LOVD, British Heart Foundation:LDLR_000866
single nucleotide variant	NM_000527.5(LDLR):c.313+1G>T	LDLR	Pathogenic/Likely pathogenic	19	11213463	11213463	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA042846,LDLR-LOVD, British Heart Foundation:LDLR_001694
Duplication	NM_000527.5(LDLR):c.313+1dup	LDLR	Pathogenic/Likely pathogenic	19	11213462	11213463	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584841,LDLR-LOVD, British Heart Foundation:LDLR_000635
single nucleotide variant	NM_000527.5(LDLR):c.313+2T>A	LDLR	Pathogenic/Likely pathogenic	19	11213464	11213464	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584842,LDLR-LOVD, British Heart Foundation:LDLR_000878
single nucleotide variant	NM_000527.5(LDLR):c.313+5G>T	LDLR	Likely pathogenic	19	11213467	11213467	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584844,LDLR-LOVD, British Heart Foundation:LDLR_000892
Duplication	NM_000527.5(LDLR):c.314-446_1187-386dup	LDLR	Pathogenic/Likely pathogenic	19	11221454	11221454	T	CCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCAGCAATTCTCCTGCCTCACCCTTCTGAGTAGCTGGGATTACAGGTTCCGGCTACCAAACCTGGCTAGTTTTTGTATGTTTAGTAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTC	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000049
single nucleotide variant	NM_000527.5(LDLR):c.314-2A>C	LDLR	Pathogenic/Likely pathogenic	19	11215894	11215894	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584848,LDLR-LOVD, British Heart Foundation:LDLR_000982
single nucleotide variant	NM_000527.5(LDLR):c.314-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11215895	11215895	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584849,LDLR-LOVD, British Heart Foundation:LDLR_001697