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_001103.4(ACTN2):c.2578C>T (p.Gln860Ter)	ACTN2	Pathogenic	1	236925812	236925812	C	T	criteria provided, single submitter	ClinGen:CA335049
single nucleotide variant	NM_001103.4(ACTN2):c.2527-1G>A	ACTN2	Pathogenic	1	236925760	236925760	G	A	criteria provided, single submitter	ClinGen:CA335020
Deletion	NM_001103.4(ACTN2):c.1793del (p.Pro598fs)	ACTN2	Likely pathogenic	1	236914904	236914904	AC	A	criteria provided, single submitter	ClinGen:CA658795623
single nucleotide variant	NM_001103.4(ACTN2):c.683T>C (p.Met228Thr)	ACTN2	Likely pathogenic	1	236894600	236894600	T	C	criteria provided, single submitter	ClinGen:CA274533,UniProtKB:P35609#VAR_074292,OMIM:102573.0007
single nucleotide variant	NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)	ACTN2	Pathogenic	1	236882307	236882307	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199276,UniProtKB:P35609#VAR_071970,OMIM:102573.0005
single nucleotide variant	NM_001103.4(ACTN2):c.352G>T (p.Gly118Cys)	ACTN2	Likely pathogenic	1	236882304	236882304	G	T	criteria provided, single submitter	ClinGen:CA345373687
single nucleotide variant	NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)	TNNT2	Pathogenic	1	201334766	201334766	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004157,OMIM:191045.0001
single nucleotide variant	NM_001276345.2(TNNT2):c.269C>T (p.Pro90Leu)	TNNT2	Pathogenic	1	201334763	201334763	G	A	criteria provided, single submitter	ClinGen:CA004176
single nucleotide variant	NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg)	TNNT2	Pathogenic/Likely pathogenic	1	201334758	201334758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004195
single nucleotide variant	NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)	TNNT2	Pathogenic/Likely pathogenic	1	201334745	201334745	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004228