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.1749C>G (p.His583Gln)	LDLR	Likely pathogenic	19	11227578	11227578	C	G	criteria provided, single submitter	ClinGen:CA404089716
single nucleotide variant	NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter)	LDLR	Pathogenic	19	11227586	11227586	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404089728
Deletion	NM_000527.5(LDLR):c.2011del (p.Thr671fs)	LDLR	Pathogenic	19	11231069	11231069	CA	C	criteria provided, single submitter	ClinGen:CA658653709
single nucleotide variant	NM_000527.5(LDLR):c.2054C>A (p.Pro685Gln)	LDLR	Likely pathogenic	19	11231112	11231112	C	A	criteria provided, single submitter	ClinGen:CA404093679
Deletion	NM_000527.5(LDLR):c.2282_2309del (p.Thr761fs)	LDLR	Pathogenic	19	11233984	11234011	GCTCACCACGGTGGAGATAGTGACAATGT	G	criteria provided, single submitter	ClinGen:CA658653855
Deletion	NM_000527.5(LDLR):c.1587-5_1618del	LDLR	Pathogenic	19	11226765	11226801	CACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG	C	criteria provided, single submitter	ClinGen:CA658653702
single nucleotide variant	NM_000384.3(APOB):c.10186G>A (p.Ala3396Thr)	APOB	Likely pathogenic	2	21229554	21229554	C	T	criteria provided, single submitter	ClinGen:CA345987160
Indel	NM_000527.5(LDLR):c.932_939delinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp)	LDLR	Pathogenic	19	11218182	11218189	AAGAGTGC	GAGAGTGG	criteria provided, single submitter	ClinGen:CA658656796
Deletion	NM_015627.3(LDLRAP1):c.71del (p.Gly24fs)	LDLRAP1	Pathogenic	1	25870254	25870254	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA521715353,OMIM:605747.0006
single nucleotide variant	NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter)	APOB	Pathogenic	2	21236159	21236159	G	T	criteria provided, single submitter	ClinGen:CA346007651