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.940+1G>A	LDLR	Likely pathogenic	19	11218191	11218191	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585210,LDLR-LOVD, British Heart Foundation:LDLR_001875
single nucleotide variant	NM_000527.5(LDLR):c.940+1G>C	LDLR	Pathogenic/Likely pathogenic	19	11218191	11218191	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585211,LDLR-LOVD, British Heart Foundation:LDLR_001876
single nucleotide variant	NM_000527.5(LDLR):c.940+2T>A	LDLR	Pathogenic/Likely pathogenic	19	11218192	11218192	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585212,LDLR-LOVD, British Heart Foundation:LDLR_001877
Deletion	c.941-2966_*2583+4485del	LDLR	Pathogenic	19	11218362	11249060	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001880
Deletion	NM_000527.5(LDLR):c.940+845_1186+531del	LDLR	Likely pathogenic	19	11219035	11222846	TCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTTCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCC	T	criteria provided, single submitter	ClinGen:CA404081661,LDLR-LOVD, British Heart Foundation:LDLR_001254
single nucleotide variant	NM_000527.5(LDLR):c.941-12G>A	LDLR	Likely pathogenic	19	11221316	11221316	G	A	reviewed by expert panel	ClinGen:CA10585217,LDLR-LOVD, British Heart Foundation:LDLR_001879
single nucleotide variant	NM_000527.5(LDLR):c.941-2A>C	LDLR	Pathogenic/Likely pathogenic	19	11221326	11221326	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585218,LDLR-LOVD, British Heart Foundation:LDLR_000141
single nucleotide variant	NM_000527.5(LDLR):c.941-2A>G	LDLR	Pathogenic/Likely pathogenic	19	11221326	11221326	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585219,LDLR-LOVD, British Heart Foundation:LDLR_000879
single nucleotide variant	NM_000527.5(LDLR):c.941-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11221327	11221327	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585220,LDLR-LOVD, British Heart Foundation:LDLR_001119
Deletion	NM_000527.5(LDLR):c.946_994del (p.Asn316fs)	LDLR	Pathogenic	19	11221333	11221381	GGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT	G	criteria provided, single submitter	ClinGen:CA10585221,LDLR-LOVD, British Heart Foundation:LDLR_000995