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_000257.4(MYH7):c.1750G>T (p.Gly584Cys)	MYH7	Likely pathogenic	14	23896932	23896932	C	A	criteria provided, single submitter	ClinGen:CA389049895
single nucleotide variant	NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)	ACTC1	Likely pathogenic	15	35084384	35084384	C	G	criteria provided, single submitter	ClinGen:CA391630175
Deletion	NM_001267550.2(TTN):c.105486del (p.Trp35162fs)	TTN	Pathogenic	2	179395856	179395856	GC	G	criteria provided, single submitter	ClinGen:CA658795976
Duplication	NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)	TTN	Pathogenic/Likely pathogenic	2	179435222	179435223	C	CAACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796030
Duplication	NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs)	TTN	Pathogenic	2	179458458	179458459	A	ACC	criteria provided, single submitter	ClinGen:CA658796043
single nucleotide variant	NM_002880.4(RAF1):c.1837C>A (p.Leu613Ile)	RAF1	Likely pathogenic	3	12626123	12626123	G	T	criteria provided, single submitter	ClinGen:CA351496090
Deletion	NM_004100.5(EYA4):c.316del (p.Ser106fs)	EYA4	Pathogenic	6	133777732	133777732	CA	C	criteria provided, single submitter	ClinGen:CA658796831
single nucleotide variant	NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe)	SCN5A	Pathogenic	3	38627487	38627487	G	A	criteria provided, single submitter	-
Deletion	NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs)	MYH6	Pathogenic	14	23863493	23863500	TGAAGGCCC	T	criteria provided, single submitter	ClinGen:CA658798170
single nucleotide variant	NM_002471.4(MYH6):c.2162G>A (p.Arg721Gln)	MYH6	Likely pathogenic	14	23866178	23866178	C	T	criteria provided, single submitter	ClinGen:CA7115577