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
Duplication	NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364130	47364131	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797632
Indel	NM_000256.3(MYBPC3):c.221C>TT	MYBPC3	Pathogenic/Likely pathogenic	11	47372861	47372861	G	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797648
Deletion	NM_022114.4(PRDM16):c.1989del (p.Glu664fs)	PRDM16	Likely pathogenic	1	3328749	3328749	GC	G	criteria provided, single submitter	ClinGen:CA658795372
single nucleotide variant	NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)	TTN	Likely pathogenic	2	179417634	179417634	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349514407
Duplication	NM_001267550.2(TTN):c.89084dup (p.Thr29696fs)	TTN	Likely pathogenic	2	179418753	179418754	T	TA	criteria provided, single submitter	ClinGen:CA658795973
Duplication	NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs)	TTN	Likely pathogenic	2	179430811	179430812	G	GTGTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796023
Deletion	NM_001267550.2(TTN):c.78977del (p.Lys26326fs)	TTN	Likely pathogenic	2	179431882	179431882	CT	C	criteria provided, single submitter	ClinGen:CA658796026
single nucleotide variant	NM_001267550.2(TTN):c.74829T>G (p.Tyr24943Ter)	TTN	Likely pathogenic	2	179436030	179436030	A	C	criteria provided, single submitter	ClinGen:CA349630890
Duplication	NM_001267550.2(TTN):c.71298dup (p.Arg23767fs)	TTN	Likely pathogenic	2	179439560	179439561	G	GC	criteria provided, single submitter	ClinGen:CA658796003
single nucleotide variant	NM_000335.5(SCN5A):c.1891-1G>A	SCN5A	Pathogenic	3	38640542	38640542	C	T	criteria provided, single submitter	ClinGen:CA015498