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.682del (p.Glu228fs)	LDLR	Pathogenic	19	11216264	11216264	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585079,LDLR-LOVD, British Heart Foundation:LDLR_000104
Indel	NM_000527.5(LDLR):c.682delinsTGCA (p.Glu228delinsCysLys)	LDLR	Likely pathogenic	19	11216264	11216264	G	TGCA	criteria provided, single submitter	ClinGen:CA10585080,LDLR-LOVD, British Heart Foundation:LDLR_001816
single nucleotide variant	NM_000527.5(LDLR):c.683A>C (p.Glu228Ala)	LDLR	Pathogenic/Likely pathogenic	19	11216265	11216265	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585081,LDLR-LOVD, British Heart Foundation:LDLR_001128
single nucleotide variant	NM_000527.5(LDLR):c.691T>C (p.Cys231Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216273	11216273	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585083,LDLR-LOVD, British Heart Foundation:LDLR_000107
single nucleotide variant	NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216273	11216273	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA044350,LDLR-LOVD, British Heart Foundation:LDLR_000405,UniProtKB:P01130#VAR_005342
single nucleotide variant	NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr)	LDLR	Likely pathogenic	19	11216274	11216274	G	A	criteria provided, single submitter	ClinGen:CA10585084,LDLR-LOVD, British Heart Foundation:LDLR_000108
single nucleotide variant	NM_000527.5(LDLR):c.693C>G (p.Cys231Trp)	LDLR	Likely pathogenic	19	11216275	11216275	C	G	reviewed by expert panel	ClinGen:CA10585085,LDLR-LOVD, British Heart Foundation:LDLR_001820
Deletion	NM_000527.5(LDLR):c.693_694+20del	LDLR	Pathogenic	19	11216275	11216296	CTGCGGTATGGGCGGGGCCAGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585086,LDLR-LOVD, British Heart Foundation:LDLR_001819
Deletion	NM_000527.5(LDLR):c.694_695del (p.Ala232fs)	LDLR	Pathogenic	19	11216276	11217241	TGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCA	T	criteria provided, single submitter	ClinGen:CA10585087,LDLR-LOVD, British Heart Foundation:LDLR_000709
single nucleotide variant	NM_000527.5(LDLR):c.694+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11216277	11216277	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585088,LDLR-LOVD, British Heart Foundation:LDLR_000499