肥大型心筋症 - MGenReviews

肥大型心筋症

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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_033337.3(CAV3):c.251T>C (p.Leu84Pro)	CAV3	Likely pathogenic	3	8787348	8787348	T	C	criteria provided, single submitter	ClinGen:CA295938
single nucleotide variant	NM_033337.3(CAV3):c.183C>A (p.Ser61Arg)	CAV3	Likely pathogenic	3	8787280	8787280	C	A	criteria provided, single submitter	ClinGen:CA215181,Leiden Muscular Dystrophy (CAV3):CAV3_00039,UniProtKB:P56539#VAR_026696
single nucleotide variant	NM_033337.3(CAV3):c.137C>T (p.Ala46Val)	CAV3	Likely pathogenic	3	8787234	8787234	C	T	criteria provided, single submitter	ClinGen:CA119431,Leiden Muscular Dystrophy (CAV3):CAV3_00006,UniProtKB:P56539#VAR_011514,OMIM:601253.0006
single nucleotide variant	NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)	CAV3	Pathogenic	3	8787233	8787233	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119428,Leiden Muscular Dystrophy (CAV3):CAV3_00005,UniProtKB:P56539#VAR_011513,OMIM:601253.0005
single nucleotide variant	NM_033337.3(CAV3):c.114+2T>C	CAV3	Pathogenic	3	8775678	8775678	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA215208,Leiden Muscular Dystrophy (CAV3):CAV3_00051
single nucleotide variant	NM_033337.3(CAV3):c.99C>A (p.Asn33Lys)	CAV3	Pathogenic	3	8775661	8775661	C	A	criteria provided, single submitter	ClinGen:CA351661574
single nucleotide variant	NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)	CAV3	Pathogenic	3	8775661	8775661	C	G	criteria provided, single submitter	ClinGen:CA119446,Leiden Muscular Dystrophy (CAV3):CAV3_00038,UniProtKB:P56539#VAR_021016,OMIM:601253.0014
single nucleotide variant	NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)	CAV3	Pathogenic	3	8775641	8775641	C	G	criteria provided, single submitter	ClinGen:CA215172,Leiden Muscular Dystrophy (CAV3):CAV3_00031
Deletion	NC_000003.12:g.(?_8733867)_(8745877_?)del	CAV3	Pathogenic	3	8775553	8787563	na	na	criteria provided, single submitter	-