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
Deletion	NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)	SCN5A	Pathogenic/Likely pathogenic	3	38592396	38592399	TCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019255
single nucleotide variant	NM_000335.5(SCN5A):c.5228G>T (p.Ser1743Ile)	SCN5A	Likely pathogenic	3	38592632	38592632	C	A	criteria provided, single submitter	ClinGen:CA019029
single nucleotide variant	NM_000335.5(SCN5A):c.5105G>A (p.Cys1702Tyr)	SCN5A	Likely pathogenic	3	38592755	38592755	C	T	criteria provided, single submitter	ClinGen:CA018879
single nucleotide variant	NM_000335.5(SCN5A):c.5069T>C (p.Met1690Thr)	SCN5A	Likely pathogenic	3	38592791	38592791	A	G	criteria provided, single submitter	ClinGen:CA018868
Deletion	NM_004006.3(DMD):c.1977_1981del (p.Lys660fs)	DMD	Pathogenic	X	32583830	32583834	CTCTTT	C	criteria provided, single submitter	ClinGen:CA658799668
single nucleotide variant	NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)	BAG3	Pathogenic/Likely pathogenic	10	121429440	121429440	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294739
Deletion	NM_000257.4(MYH7):c.3812_3823del (p.Asn1271_Thr1274del)	MYH7	Likely pathogenic	14	23888722	23888733	CTGGTGAGGTCGT	C	criteria provided, single submitter	ClinGen:CA658798189
Deletion	NM_001267550.2(TTN):c.51870del (p.Glu17291fs)	TTN	Likely pathogenic	2	179474167	179474167	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795990
Deletion	NM_001267550.2(TTN):c.81521del (p.Pro27174fs)	TTN	Likely pathogenic	2	179429338	179429338	AG	A	criteria provided, single submitter	ClinGen:CA658796020
Deletion	NM_001267550.2(TTN):c.75443del (p.Gly25148fs)	TTN	Likely pathogenic	2	179435416	179435416	AC	A	criteria provided, single submitter	ClinGen:CA658796032