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_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)	TTN	Likely pathogenic	2	179456938	179456938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA60970456
Deletion	NM_020778.5(ALPK3):c.3726del (p.Lys1243fs)	ALPK3	Pathogenic/Likely pathogenic	15	85401692	85401692	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709703
single nucleotide variant	NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala)	MYH7	Likely pathogenic	14	23896483	23896483	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA389049527
single nucleotide variant	NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly)	MYH7	Likely pathogenic	14	23898488	23898488	G	C	criteria provided, single submitter	ClinGen:CA389051122
single nucleotide variant	NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)	ALPK3	Pathogenic/Likely pathogenic	15	85382318	85382318	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273664439
single nucleotide variant	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN	Pathogenic/Likely pathogenic	2	179392275	179392275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60949220
Indel	NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs)	TTN	Likely pathogenic	2	179407073	179407078	ATACTC	GT	criteria provided, single submitter	ClinGen:CA658795966
single nucleotide variant	NM_001267550.2(TTN):c.91565-1G>A	TTN	Likely pathogenic	2	179415001	179415001	C	T	criteria provided, single submitter	ClinGen:CA349500060
single nucleotide variant	NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter)	TTN	Likely pathogenic	2	179416514	179416514	C	T	criteria provided, single submitter	ClinGen:CA349503675
single nucleotide variant	NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)	TTN	Likely pathogenic	2	179419764	179419764	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349527671

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