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_003673.4(TCAP):c.157C>T (p.Gln53Ter)	TCAP	Pathogenic/Likely pathogenic	17	37822015	37822015	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117567,OMIM:604488.0001
Deletion	NM_003673.4(TCAP):c.110_110+1del	TCAP	Pathogenic	17	37821720	37821721	AGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117570,OMIM:604488.0002
single nucleotide variant	NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)	PRKAG2	Pathogenic	7	151273498	151273498	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014644,UniProtKB:Q9UGJ0#VAR_013264,OMIM:602743.0001
single nucleotide variant	NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)	PRKAG2	Likely pathogenic	7	151265836	151265836	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013659,UniProtKB:Q9UGJ0#VAR_013267,OMIM:602743.0004
single nucleotide variant	NM_016203.4(PRKAG2):c.1591C>G (p.Arg531Gly)	PRKAG2	Pathogenic	7	151257697	151257697	G	C	criteria provided, single submitter	ClinGen:CA013874,UniProtKB:Q9UGJ0#VAR_032909,OMIM:602743.0006
single nucleotide variant	NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)	PRKAG2	Pathogenic	7	151257696	151257696	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013883,UniProtKB:Q9UGJ0#VAR_013269,OMIM:602743.0007
single nucleotide variant	NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)	PRKAG2	Pathogenic	7	151257699	151257699	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013864,OMIM:602743.0009
single nucleotide variant	NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln)	PRKAG2	Likely pathogenic	7	151261232	151261232	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013833,OMIM:602743.0010
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.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