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
Duplication	NM_004281.4(BAG3):c.206dup (p.Ser70fs)	BAG3	Pathogenic	10	121429385	121429386	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618932
Duplication	NM_004281.4(BAG3):c.350dup (p.Gly118fs)	BAG3	Likely pathogenic	10	121429530	121429531	G	GC	criteria provided, single submitter	ClinGen:CA16618933
Deletion	NM_004281.4(BAG3):c.580del (p.Ser194fs)	BAG3	Likely pathogenic	10	121431839	121431839	GA	G	criteria provided, single submitter	ClinGen:CA16618934
Deletion	NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47353711	47353711	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619331
Insertion	NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)	MYBPC3	Pathogenic	11	47355173	47355174	G	GTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619335
Duplication	NM_000256.3(MYBPC3):c.2700_2703dup (p.Asp902fs)	MYBPC3	Pathogenic	11	47357461	47357462	C	CCAGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619336
single nucleotide variant	NM_000256.3(MYBPC3):c.2603-1G>C	MYBPC3	Pathogenic/Likely pathogenic	11	47357563	47357563	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619337
Deletion	NM_000256.3(MYBPC3):c.2058del (p.Ile687fs)	MYBPC3	Pathogenic	11	47361211	47361211	TA	T	criteria provided, single submitter	ClinGen:CA16619339
Deletion	NM_000256.3(MYBPC3):c.1809del (p.Ile603fs)	MYBPC3	Likely pathogenic	11	47362777	47362777	CA	C	criteria provided, single submitter	ClinGen:CA16619340
single nucleotide variant	NM_000256.3(MYBPC3):c.1621C>T (p.Gln541Ter)	MYBPC3	Pathogenic	11	47364132	47364132	G	A	criteria provided, single submitter	ClinGen:CA16619341