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.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
single nucleotide variant	NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)	FLNC	Pathogenic/Likely pathogenic	7	128491594	128491594	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA369208313
Deletion	NM_000256.3(MYBPC3):c.1504del (p.Arg502fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364249	47364249	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797634
Duplication	NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs)	TTN	Likely pathogenic	2	179401684	179401685	C	CACAACTGAGGACACTTCTAGAGGGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795991
Duplication	NM_001267550.2(TTN):c.75665dup (p.Cys25222fs)	TTN	Likely pathogenic	2	179435193	179435194	G	GC	criteria provided, single submitter	ClinGen:CA658796029
Duplication	NM_001267550.2(TTN):c.72826_72829dup (p.Leu24277fs)	TTN	Pathogenic	2	179438029	179438030	A	AGAGT	criteria provided, single submitter	ClinGen:CA658796036
Deletion	NM_001267550.2(TTN):c.43370del (p.Lys14457fs)	TTN	Likely pathogenic	2	179497363	179497363	CT	C	criteria provided, single submitter	ClinGen:CA658796016
Indel	NM_000256.3(MYBPC3):c.2414-2_2414-1delinsTCCA	MYBPC3	Likely pathogenic	11	47359131	47359132	CT	TGGA	criteria provided, single submitter	ClinGen:CA658797625