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.1075C>T (p.Gln359Ter)	LDLR	Pathogenic	19	11222204	11222204	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585294,LDLR-LOVD, British Heart Foundation:LDLR_001352
Deletion	NM_000527.5(LDLR):c.1085del (p.Asp362fs)	LDLR	Pathogenic	19	11222214	11222214	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585296,LDLR-LOVD, British Heart Foundation:LDLR_000473
single nucleotide variant	NM_000527.5(LDLR):c.1091G>C (p.Cys364Ser)	LDLR	Likely pathogenic	19	11222220	11222220	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585299,LDLR-LOVD, British Heart Foundation:LDLR_001223
single nucleotide variant	NM_000527.5(LDLR):c.1091G>T (p.Cys364Phe)	LDLR	Likely pathogenic	19	11222220	11222220	G	T	criteria provided, single submitter	ClinGen:CA10585300,LDLR-LOVD, British Heart Foundation:LDLR_000525
single nucleotide variant	NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter)	LDLR	Pathogenic	19	11222225	11222225	C	T	criteria provided, single submitter	ClinGen:CA10585301,LDLR-LOVD, British Heart Foundation:LDLR_001229
single nucleotide variant	NM_000527.5(LDLR):c.1097A>C (p.Gln366Pro)	LDLR	Likely pathogenic	19	11222226	11222226	A	C	criteria provided, single submitter	ClinGen:CA10585302,LDLR-LOVD, British Heart Foundation:LDLR_001149
single nucleotide variant	NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg)	LDLR	Pathogenic/Likely pathogenic	19	11222226	11222226	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA032068,LDLR-LOVD, British Heart Foundation:LDLR_000411,UniProtKB:P01130#VAR_007985
Indel	NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)	LDLR	Pathogenic	19	11222228	11222233	CTCTGC	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585303,LDLR-LOVD, British Heart Foundation:LDLR_001356
single nucleotide variant	NM_000527.5(LDLR):c.1102T>G (p.Cys368Gly)	LDLR	Likely pathogenic	19	11222231	11222231	T	G	criteria provided, single submitter	ClinGen:CA10585304,LDLR-LOVD, British Heart Foundation:LDLR_001134
single nucleotide variant	NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser)	LDLR	Likely pathogenic	19	11222232	11222232	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585305,LDLR-LOVD, British Heart Foundation:LDLR_001358