特発性拡張型心筋症

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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
Deletion	NM_000447.3(PSEN2):c.886+2_886+4del	PSEN2	Likely pathogenic	1	227077836	227077838	GTGA	G	criteria provided, single submitter	ClinGen:CA658655636
single nucleotide variant	NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)	PSEN2	Pathogenic	1	227073304	227073304	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224953,UniProtKB:P49810#VAR_006462,OMIM:600759.0001
single nucleotide variant	NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)	PSEN2	Pathogenic/Likely pathogenic	1	227073246	227073246	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224950,UniProtKB:P49810#VAR_009214,OMIM:600759.0005
Deletion	NC_000001.11:g.(?_226881888)_(226895599_?)del	PSEN2	Pathogenic	1	227069589	227083300	na	na	criteria provided, single submitter	-