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.313+3A>C	LDLR	Likely pathogenic	19	11213465	11213465	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620736
Indel	NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs)	LDLR	Pathogenic	19	11216262	11216264	ACG	CGGTATGGACTGCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620737
single nucleotide variant	NM_000527.5(LDLR):c.1439C>T (p.Ala480Val)	LDLR	Pathogenic	19	11224291	11224291	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620738
single nucleotide variant	NM_000527.5(LDLR):c.1706-1G>C	LDLR	Pathogenic	19	11227534	11227534	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620739
Deletion	NM_000527.5(LDLR):c.460del (p.Gln154fs)	LDLR	Likely pathogenic	19	11216041	11216041	TC	T	criteria provided, single submitter	ClinGen:CA645294118
single nucleotide variant	NM_000527.5(LDLR):c.865T>G (p.Cys289Gly)	LDLR	Likely pathogenic	19	11218115	11218115	T	G	criteria provided, single submitter	ClinGen:CA404080780
Deletion	NM_000527.4(LDLR):c.-229_-90del	LDLR	Pathogenic	19	11199995	11200134	ACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCC	A	criteria provided, single submitter	ClinGen:CA645373259
single nucleotide variant	NM_000527.5(LDLR):c.116G>T (p.Cys39Phe)	LDLR	Pathogenic	19	11210947	11210947	G	T	criteria provided, single submitter	ClinGen:CA404074745
Deletion	NM_000527.5(LDLR):c.178del (p.Gln60fs)	LDLR	Pathogenic	19	11211007	11211007	TC	T	criteria provided, single submitter	ClinGen:CA645373250
Insertion	NM_000527.5(LDLR):c.251_252insCATTCTG (p.Gln85fs)	LDLR	Pathogenic	19	11213400	11213401	C	CCATTCTG	criteria provided, single submitter	ClinGen:CA645373252