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
Duplication	NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs)	LDLR	Pathogenic	19	11240246	11240249	T	TAAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA023673,LDLR-LOVD, British Heart Foundation:LDLR_001650,OMIM:606945.0021
single nucleotide variant	NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)	LDLR	Pathogenic/Likely pathogenic	19	11216252	11216252	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023744,LDLR-LOVD, British Heart Foundation:LDLR_001802,UniProtKB:P01130#VAR_005334,OMIM:606945.0022
Deletion	FH French Canadian 5	LDLR	Pathogenic	19	11200292	11215895	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000014,dbVar:nssv7487140,OMIM:606945.0026
Deletion	FH Vancouver 3	LDLR	Pathogenic	19	11211022	11223953	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001288,dbVar:nssv7487195,OMIM:606945.0031
Deletion	NM_000527.5(LDLR):c.1891_2311+1062del	LDLR	Pathogenic/Likely pathogenic	19	11230812	11235081	GTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA250475,LDLR-LOVD, British Heart Foundation:LDLR_001543,dbVar:nssv3761595,OMIM:606945.0042
single nucleotide variant	NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	LDLR	Pathogenic/Likely pathogenic	19	11216105	11216105	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023713,LDLR-LOVD, British Heart Foundation:LDLR_001755,UniProtKB:P01130#VAR_005326,OMIM:606945.0044
single nucleotide variant	NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216146	11216146	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023723,LDLR-LOVD, British Heart Foundation:LDLR_001763,OMIM:606945.0045
Deletion	NM_000527.5(LDLR):c.925_931del (p.Pro309fs)	LDLR	Pathogenic	19	11218175	11218181	AACCCATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023793,LDLR-LOVD, British Heart Foundation:LDLR_001867,OMIM:606945.0047
single nucleotide variant	NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)	LDLR	Pathogenic/Likely pathogenic	19	11216275	11216275	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023751,LDLR-LOVD, British Heart Foundation:LDLR_000109,OMIM:606945.0048
Deletion	NM_000527.5(LDLR):c.680_681del (p.Asp227fs)	LDLR	Pathogenic/Likely pathogenic	19	11216262	11216263	GAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023745,LDLR-LOVD, British Heart Foundation:LDLR_001812,OMIM:606945.0049