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
Insertion	NM_004100.5(EYA4):c.437+2_437+3insG	EYA4	Likely pathogenic	6	133782320	133782321	T	TG	criteria provided, single submitter	ClinGen:CA658796832
Deletion	NM_000256.3(MYBPC3):c.1504del (p.Arg502fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364249	47364249	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797634
single nucleotide variant	NM_000335.5(SCN5A):c.5623G>A (p.Glu1875Lys)	SCN5A	Likely pathogenic	3	38592237	38592237	C	T	criteria provided, single submitter	ClinGen:CA019400
Duplication	NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs)	TTN	Likely pathogenic	2	179401684	179401685	C	CACAACTGAGGACACTTCTAGAGGGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795991
Duplication	NM_001267550.2(TTN):c.75665dup (p.Cys25222fs)	TTN	Likely pathogenic	2	179435193	179435194	G	GC	criteria provided, single submitter	ClinGen:CA658796029
Duplication	NM_001267550.2(TTN):c.72826_72829dup (p.Leu24277fs)	TTN	Pathogenic	2	179438029	179438030	A	AGAGT	criteria provided, single submitter	ClinGen:CA658796036
Deletion	NM_001267550.2(TTN):c.43370del (p.Lys14457fs)	TTN	Likely pathogenic	2	179497363	179497363	CT	C	criteria provided, single submitter	ClinGen:CA658796016
Indel	NM_000256.3(MYBPC3):c.2414-2_2414-1delinsTCCA	MYBPC3	Likely pathogenic	11	47359131	47359132	CT	TGGA	criteria provided, single submitter	ClinGen:CA658797625
Duplication	NM_000256.3(MYBPC3):c.1812_1813dup (p.Asp605fs)	MYBPC3	Pathogenic	11	47362772	47362773	T	TCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA5975372
Duplication	NM_004100.5(EYA4):c.578dup (p.Tyr193Ter)	EYA4	Pathogenic	6	133783612	133783613	T	TA	criteria provided, single submitter	ClinGen:CA658796833