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
single nucleotide variant	NM_000257.4(MYH7):c.2081G>A (p.Arg694His)	MYH7	Pathogenic/Likely pathogenic	14	23895254	23895254	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587775,UniProtKB:P12883#VAR_029437
single nucleotide variant	NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn)	MYH7	Likely pathogenic	14	23894569	23894569	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587779,UniProtKB:P12883#VAR_020813
single nucleotide variant	NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn)	TPM1	Likely pathogenic	15	63349193	63349193	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA028881
single nucleotide variant	NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)	TTN	Pathogenic/Likely pathogenic	2	179429822	179429822	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588325
Indel	NM_001267550.2(TTN):c.69211_69214delinsTCT (p.Pro23071fs)	TTN	Pathogenic	2	179441848	179441851	TTGG	AGA	criteria provided, single submitter	ClinGen:CA10588326
single nucleotide variant	NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter)	TTN	Pathogenic/Likely pathogenic	2	179478597	179478597	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588327
single nucleotide variant	NM_003280.3(TNNC1):c.141G>T (p.Met47Ile)	TNNC1	Likely pathogenic	3	52486183	52486183	C	A	criteria provided, single submitter	ClinGen:CA10588371
single nucleotide variant	NM_033337.3(CAV3):c.303G>C (p.Trp101Cys)	CAV3	Likely pathogenic	3	8787400	8787400	G	C	criteria provided, single submitter	ClinGen:CA10588372
single nucleotide variant	NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)	MYH7	Pathogenic/Likely pathogenic	14	23894580	23894580	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588572,UniProtKB:P12883#VAR_019860
single nucleotide variant	NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)	FLNC	Pathogenic/Likely pathogenic	7	128484099	128484099	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:427828,ClinGen:CA166177514

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