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_001267550.2(TTN):c.72347del (p.Asn24116fs)	TTN	Pathogenic	2	179438512	179438512	AT	A	criteria provided, single submitter	ClinGen:CA658796039
Deletion	NM_001267550.2(TTN):c.69880del (p.Thr23294fs)	TTN	Pathogenic	2	179440979	179440979	GT	G	criteria provided, single submitter	ClinGen:CA658796007
Insertion	NM_001267550.2(TTN):c.68923_68924insT (p.Pro22975fs)	TTN	Pathogenic	2	179442138	179442139	G	GA	criteria provided, single submitter	ClinGen:CA658796008
single nucleotide variant	NM_001267550.2(TTN):c.66770-2A>C	TTN	Likely pathogenic	2	179445338	179445338	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349426176
Deletion	NM_001267550.2(TTN):c.53984del (p.Met17995fs)	TTN	Pathogenic	2	179469920	179469920	CA	C	criteria provided, single submitter	ClinGen:CA658795982
single nucleotide variant	NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter)	TTN	Pathogenic	2	179474569	179474569	C	T	criteria provided, single submitter	ClinGen:CA349584257
single nucleotide variant	NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter)	TTN	Likely pathogenic	2	179505980	179505980	T	A	criteria provided, single submitter	ClinGen:CA61009952
single nucleotide variant	NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38627394	38627394	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016289
Deletion	NM_000335.5(SCN5A):c.2533del (p.Val845fs)	SCN5A	Pathogenic/Likely pathogenic	3	38627436	38627436	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016249
single nucleotide variant	NM_002471.4(MYH6):c.735T>G (p.Phe245Leu)	MYH6	Pathogenic	14	23873505	23873505	A	C	criteria provided, single submitter	ClinGen:CA389028862