肥大型心筋症 - MGenReviews

肥大型心筋症

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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.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_002471.4(MYH6):c.735T>G (p.Phe245Leu)	MYH6	Pathogenic	14	23873505	23873505	A	C	criteria provided, single submitter	ClinGen:CA389028862
single nucleotide variant	NM_000257.4(MYH7):c.1750G>T (p.Gly584Cys)	MYH7	Likely pathogenic	14	23896932	23896932	C	A	criteria provided, single submitter	ClinGen:CA389049895
single nucleotide variant	NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)	ACTC1	Likely pathogenic	15	35084384	35084384	C	G	criteria provided, single submitter	ClinGen:CA391630175
Deletion	NM_001267550.2(TTN):c.105486del (p.Trp35162fs)	TTN	Pathogenic	2	179395856	179395856	GC	G	criteria provided, single submitter	ClinGen:CA658795976