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
Duplication	NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)	TTN	Likely pathogenic	2	179479236	179479237	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.41383G>T (p.Gly13795Ter)	TTN	Likely pathogenic	2	179500915	179500915	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	TTN	Pathogenic/Likely pathogenic	2	179631234	179631234	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001458.5(FLNC):c.477_478del (p.Gln159fs)	FLNC	Likely pathogenic	7	128475503	128475504	CAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.7687T>C (p.Tyr2563His)	FLNC	Likely pathogenic	7	128497297	128497297	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.3588C>A (p.Tyr1196Ter)	MYBPC3	Likely pathogenic	11	47354156	47354156	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.3157G>T (p.Glu1053Ter)	MYBPC3	Likely pathogenic	11	47355141	47355141	C	A	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3150del (p.Asn1051fs)	MYBPC3	Likely pathogenic	11	47355148	47355148	TC	T	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer)	MYBPC3	Pathogenic/Likely pathogenic	11	47359018	47359018	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000257.4(MYH7):c.1979C>A (p.Thr660Asn)	MYH7	Likely pathogenic	14	23896051	23896051	G	T	criteria provided, multiple submitters, no conflicts	-