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_000335.5(SCN5A):c.4370C>A (p.Ser1457Tyr)	SCN5A	Pathogenic	3	38597996	38597996	G	T	criteria provided, single submitter	ClinGen:CA018188,UniProtKB:Q14524#VAR_068336
single nucleotide variant	NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro)	SCN5A	Likely pathogenic	3	38597182	38597182	A	G	criteria provided, single submitter	ClinGen:CA018376
single nucleotide variant	NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys)	SCN5A	Pathogenic	3	38593004	38593004	G	T	criteria provided, single submitter	ClinGen:CA018648
Inversion	NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)	BAG3	Pathogenic	10	121436362	121436363	AC	GT	criteria provided, single submitter	ClinGen:CA658656099
Duplication	NM_004281.4(BAG3):c.1161dup (p.Lys388fs)	BAG3	Pathogenic	10	121436222	121436223	T	TC	criteria provided, single submitter	ClinGen:CA658656095
single nucleotide variant	NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu)	SCN5A	Likely pathogenic	3	38592995	38592995	C	A	criteria provided, single submitter	ClinGen:CA018677
Deletion	NC_000011.10:g.(?_47331851)_(47352667_?)del	MYBPC3	Pathogenic	11	47353402	47374218	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_47347406)_(47352667_?)del	MYBPC3	Pathogenic	11	47368957	47374218	na	na	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2648_2673dup (p.Pro892fs)	MYBPC3	Pathogenic	11	47357491	47357492	G	GCCGCCACTTGAGGGAGACCGTGGTGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656133
Deletion	NM_000256.3(MYBPC3):c.317del (p.Pro106fs)	MYBPC3	Pathogenic	11	47372142	47372142	AG	A	criteria provided, single submitter	ClinGen:CA658658054