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.311G>C (p.Cys104Ser)	LDLR	Pathogenic	19	11213460	11213460	G	C	criteria provided, single submitter	ClinGen:CA404075862
single nucleotide variant	NM_000527.5(LDLR):c.314-1G>T	LDLR	Pathogenic	19	11215895	11215895	G	T	criteria provided, single submitter	ClinGen:CA404076202
Deletion	NM_000527.5(LDLR):c.318_336del (p.Lys107fs)	LDLR	Pathogenic	19	11215899	11215917	CCCAAGACGTGCTCCCAGGA	C	criteria provided, single submitter	ClinGen:CA645373222
single nucleotide variant	NM_000527.5(LDLR):c.417C>A (p.Asp139Glu)	LDLR	Pathogenic	19	11215999	11215999	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404076384
Indel	NM_000527.5(LDLR):c.442_504delinsA (p.Cys148fs)	LDLR	Pathogenic	19	11216024	11216086	TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC	A	criteria provided, single submitter	ClinGen:CA645373223
Deletion	NM_000527.5(LDLR):c.519_532del (p.Cys173_Asp178delinsTer)	LDLR	Pathogenic	19	11216100	11216113	TGCGAAGATGGCTCG	T	criteria provided, single submitter	ClinGen:CA645373225
single nucleotide variant	NM_000527.5(LDLR):c.528C>T (p.Gly176=)	LDLR	Likely pathogenic	19	11216110	11216110	C	T	criteria provided, single submitter	ClinGen:CA505743230
single nucleotide variant	NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)	LDLR	Likely pathogenic	19	11216133	11216133	G	C	reviewed by expert panel	ClinGen:CA404077216
Indel	NM_000527.5(LDLR):c.565_568delinsTG (p.Val189fs)	LDLR	Pathogenic	19	11216147	11216150	GTGT	TG	criteria provided, single submitter	ClinGen:CA645373226
single nucleotide variant	NM_000527.5(LDLR):c.613C>G (p.Leu205Val)	LDLR	Likely pathogenic	19	11216195	11216195	C	G	criteria provided, single submitter	ClinGen:CA404077826