家族性高コレステロール血症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.2042G>C (p.Cys681Ser)	LDLR	Pathogenic/Likely pathogenic	19	11231100	11231100	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585742,LDLR-LOVD, British Heart Foundation:LDLR_000928
single nucleotide variant	NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp)	LDLR	Pathogenic	19	11231101	11231101	C	G	reviewed by expert panel	ClinGen:CA10585743,LDLR-LOVD, British Heart Foundation:LDLR_001019
Deletion	NM_000527.5(LDLR):c.2046_2049del (p.Ala684fs)	LDLR	Pathogenic	19	11231104	11231107	GCCTC	G	criteria provided, single submitter	ClinGen:CA10585745,LDLR-LOVD, British Heart Foundation:LDLR_000351
Deletion	NM_000527.5(LDLR):c.2050_2063del (p.Ala684fs)	LDLR	Pathogenic	19	11231108	11231121	TGCCCCGCAGATCAA	T	criteria provided, single submitter	ClinGen:CA10585746,LDLR-LOVD, British Heart Foundation:LDLR_000644
single nucleotide variant	NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr)	LDLR	Likely pathogenic	19	11231111	11231111	C	A	criteria provided, single submitter	ClinGen:CA10585747,LDLR-LOVD, British Heart Foundation:LDLR_000808
single nucleotide variant	NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser)	LDLR	Pathogenic/Likely pathogenic	19	11231111	11231111	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585748,LDLR-LOVD, British Heart Foundation:LDLR_001594
Deletion	NM_000527.5(LDLR):c.2054del (p.Pro685fs)	LDLR	Pathogenic	19	11231109	11231109	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585749,LDLR-LOVD, British Heart Foundation:LDLR_001595
Deletion	NM_000527.5(LDLR):c.2055_2067del (p.Gln686fs)	LDLR	Pathogenic	19	11231113	11231125	GCCCCGCAGATCAA	G	criteria provided, single submitter	ClinGen:CA10585750,LDLR-LOVD, British Heart Foundation:LDLR_001243
Deletion	NM_000527.5(LDLR):c.2055del (p.Gln686fs)	LDLR	Pathogenic	19	11231113	11231113	CG	C	criteria provided, single submitter	ClinGen:CA10585751,LDLR-LOVD, British Heart Foundation:LDLR_000947
single nucleotide variant	NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter)	LDLR	Pathogenic	19	11231114	11231114	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585752,LDLR-LOVD, British Heart Foundation:LDLR_000277