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_004006.3(DMD):c.10519G>T (p.Glu3507Ter)	DMD	Pathogenic	X	31187594	31187594	C	A	criteria provided, single submitter	ClinGen:CA412651795
Deletion	NM_001267550.2(TTN):c.107681-4_107710del	TTN	Likely pathogenic	2	179392005	179392038	GATGGAAGAGCTTCAATTTTAGGCGGAATTCCTTT	G	criteria provided, single submitter	ClinGen:CA658795971
Duplication	NM_170707.4(LMNA):c.978dup (p.Leu327fs)	LMNA	Pathogenic	1	156105732	156105733	C	CA	criteria provided, single submitter	ClinGen:CA658795532
Deletion	NM_001267550.2(TTN):c.106049del (p.Thr35350fs)	TTN	Likely pathogenic	2	179395293	179395293	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795975
Deletion	NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)	TTN	Likely pathogenic	2	179396151	179396152	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60954084
Deletion	NM_001267550.2(TTN):c.51916_51922del (p.Gly17306fs)	TTN	Likely pathogenic	2	179474115	179474121	ACTTCACC	A	criteria provided, single submitter	ClinGen:CA658795989
single nucleotide variant	NM_001267550.2(TTN):c.9654C>G (p.Tyr3218Ter)	TTN	Likely pathogenic	2	179631157	179631157	G	C	criteria provided, single submitter	ClinGen:CA349674681
Deletion	NM_001267550.2(TTN):c.70128del (p.Thr23377fs)	TTN	Likely pathogenic	2	179440731	179440731	TC	T	criteria provided, single submitter	ClinGen:CA658796006
Duplication	NM_170707.4(LMNA):c.1524_1534dup (p.Leu512fs)	LMNA	Pathogenic	1	156106936	156106937	C	CCCCCCTACCGA	criteria provided, single submitter	ClinGen:CA658795538
single nucleotide variant	NM_000335.5(SCN5A):c.1338+2T>A	SCN5A	Pathogenic/Likely pathogenic	3	38647440	38647440	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014714