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
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
Duplication	NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)	MYBPC3	Pathogenic	11	47365158	47365159	C	CCAGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797638
single nucleotide variant	NM_000256.3(MYBPC3):c.660T>G (p.Tyr220Ter)	MYBPC3	Pathogenic	11	47370087	47370087	A	C	criteria provided, single submitter	ClinGen:CA380336488
Deletion	NM_000256.3(MYBPC3):c.505_505+7del	MYBPC3	Pathogenic	11	47371558	47371565	ACACTCACC	A	criteria provided, single submitter	ClinGen:CA658797645
Deletion	NM_000256.3(MYBPC3):c.480del (p.Pro161fs)	MYBPC3	Pathogenic	11	47371590	47371590	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797646
Duplication	NM_000256.3(MYBPC3):c.405dup (p.Gly136fs)	MYBPC3	Pathogenic	11	47372053	47372054	C	CT	criteria provided, single submitter	ClinGen:CA658797647

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