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
single nucleotide variant	NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter)	MYBPC3	Pathogenic	11	47354781	47354781	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA053346
Insertion	NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs)	MYBPC3	Pathogenic	11	47354846	47354847	C	CA	criteria provided, single submitter	ClinGen:CA658797620
Insertion	NM_000256.3(MYBPC3):c.2604_2605insA (p.Pro869fs)	MYBPC3	Pathogenic	11	47357560	47357561	G	GT	criteria provided, single submitter	ClinGen:CA658797622
Deletion	NM_000256.3(MYBPC3):c.2451del (p.Trp818fs)	MYBPC3	Pathogenic	11	47359093	47359093	AC	A	criteria provided, single submitter	ClinGen:CA658797624
Deletion	NM_000256.3(MYBPC3):c.2310del (p.Asp770fs)	MYBPC3	Pathogenic	11	47359344	47359344	CG	C	criteria provided, single submitter	ClinGen:CA658797627
Duplication	NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs)	MYBPC3	Pathogenic	11	47360120	47360121	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA5975367
single nucleotide variant	NM_000256.3(MYBPC3):c.1927G>T (p.Glu643Ter)	MYBPC3	Pathogenic	11	47362554	47362554	C	A	criteria provided, single submitter	ClinGen:CA380323208
Indel	NM_000256.3(MYBPC3):c.1827_1846delinsTACAGC (p.Asp610fs)	MYBPC3	Pathogenic	11	47362740	47362759	AGCTGTAGTCAGCCTCGTCG	GCTGTA	criteria provided, single submitter	ClinGen:CA658797629
Deletion	NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs)	MYBPC3	Pathogenic	11	47364159	47364183	CCCCCGCTAGTGCACAGTGCATAGTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797633
Deletion	NM_000256.3(MYBPC3):c.1483del (p.Arg495fs)	MYBPC3	Pathogenic	11	47364270	47364270	CG	C	criteria provided, single submitter	ClinGen:CA658797635