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_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)	MYBPC3	Pathogenic	11	47367806	47367810	A	ATGCCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA273429
Duplication	NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47354519	47354520	C	CCACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA273443
Duplication	NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47372866	47372867	G	GCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA273635
single nucleotide variant	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	TTN	Pathogenic/Likely pathogenic	2	179444429	179444429	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346762
single nucleotide variant	NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)	TNNT2	Pathogenic/Likely pathogenic	1	201328344	201328344	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005319
single nucleotide variant	NM_001276345.2(TNNT2):c.851+1G>C	TNNT2	Pathogenic/Likely pathogenic	1	201328750	201328750	C	G	criteria provided, single submitter	ClinGen:CA005203
Duplication	NM_001276345.2(TNNT2):c.844dup (p.Gln282fs)	TNNT2	Pathogenic	1	201328757	201328758	T	TG	criteria provided, single submitter	ClinGen:CA297460
single nucleotide variant	NM_001276345.2(TNNT2):c.526A>G (p.Arg176Gly)	TNNT2	Likely pathogenic	1	201332498	201332498	T	C	criteria provided, single submitter	ClinGen:CA004675
single nucleotide variant	NM_001276345.2(TNNT2):c.307A>C (p.Lys103Gln)	TNNT2	Likely pathogenic	1	201334423	201334423	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001276345.2(TNNT2):c.269C>T (p.Pro90Leu)	TNNT2	Pathogenic	1	201334763	201334763	G	A	criteria provided, single submitter	ClinGen:CA004176