肥大型心筋症 - MGenReviews

肥大型心筋症

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000256.3(MYBPC3):c.3662del (p.Leu1221fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47353775	47353775	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279321
Duplication	NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs)	MYBPC3	Likely pathogenic	11	47354440	47354441	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA279290
single nucleotide variant	NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47354775	47354775	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279299
Duplication	NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs)	MYBPC3	Likely pathogenic	11	47357494	47357495	G	GC	criteria provided, single submitter	ClinGen:CA279270
Deletion	NM_000256.3(MYBPC3):c.2550del (p.Asn850fs)	MYBPC3	Likely pathogenic	11	47358994	47358994	CG	C	criteria provided, single submitter	ClinGen:CA279283
single nucleotide variant	NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47359278	47359278	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279280
single nucleotide variant	NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47359283	47359283	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279318
Deletion	NM_000256.3(MYBPC3):c.306del (p.Met103fs)	MYBPC3	Likely pathogenic	11	47372153	47372153	TG	T	criteria provided, single submitter	ClinGen:CA279289
Duplication	NM_000256.3(MYBPC3):c.227dup (p.Ser78fs)	MYBPC3	Likely pathogenic	11	47372854	47372855	C	CT	criteria provided, single submitter	ClinGen:CA279311
single nucleotide variant	NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys)	MYH7	Likely pathogenic	14	23889422	23889422	C	T	criteria provided, single submitter	ClinGen:CA279329

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