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.1031del (p.Phe344fs)	LDLR	Pathogenic	19	11221417	11221417	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585259,LDLR-LOVD, British Heart Foundation:LDLR_001331
Duplication	NM_000527.5(LDLR):c.1034dup (p.Leu346fs)	LDLR	Pathogenic	19	11221421	11221421	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585260,LDLR-LOVD, British Heart Foundation:LDLR_001333
Insertion	NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs)	LDLR	Pathogenic	19	11221429	11221430	G	GA	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001242,ClinGen:CA10585261
Deletion	NM_000527.5(LDLR):c.1042del (p.Ala348fs)	LDLR	Pathogenic	19	11221428	11221428	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585262,LDLR-LOVD, British Heart Foundation:LDLR_001335
single nucleotide variant	NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)	LDLR	Pathogenic	19	11221432	11221432	C	T	reviewed by expert panel	ClinGen:CA031354,LDLR-LOVD, British Heart Foundation:LDLR_000964
Deletion	NM_000527.5(LDLR):c.1045del (p.Gln349fs)	LDLR	Pathogenic/Likely pathogenic	19	11221430	11221430	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585263,LDLR-LOVD, British Heart Foundation:LDLR_000641
Duplication	NM_000527.5(LDLR):c.1045dup (p.Gln349fs)	LDLR	Pathogenic	19	11221432	11221432	G	GC	criteria provided, single submitter	ClinGen:CA10585264,LDLR-LOVD, British Heart Foundation:LDLR_001336
Deletion	NM_000527.5(LDLR):c.1046del (p.Gln349fs)	LDLR	Pathogenic	19	11221433	11221433	CA	C	criteria provided, single submitter	ClinGen:CA10585265,LDLR-LOVD, British Heart Foundation:LDLR_000447
Duplication	NM_000527.5(LDLR):c.1055_1062dup (p.Ile355fs)	LDLR	Pathogenic	19	11221440	11221447	A	AGCGAAGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585266,LDLR-LOVD, British Heart Foundation:LDLR_000520
single nucleotide variant	NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser)	LDLR	Likely pathogenic	19	11221441	11221441	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585267,LDLR-LOVD, British Heart Foundation:LDLR_001338