特発性拡張型心筋症 - MGenReviews

特発性拡張型心筋症

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_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)	PSEN1	Pathogenic/Likely pathogenic	14	73640279	73640279	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA225002,UniProtKB:P49768#VAR_006416
single nucleotide variant	NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)	PSEN1	Pathogenic	14	73640282	73640282	C	T	criteria provided, single submitter	ClinGen:CA225003
single nucleotide variant	NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser)	PSEN1	Pathogenic	14	73640284	73640284	C	T	criteria provided, single submitter	ClinGen:CA225005
single nucleotide variant	NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu)	PSEN1	Likely pathogenic	14	73640285	73640285	C	T	criteria provided, single submitter	ClinGen:CA225007,UniProtKB:P49768#VAR_009209
single nucleotide variant	NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys)	PSEN1	Likely pathogenic	14	73640293	73640293	G	A	criteria provided, single submitter	ClinGen:CA225008,UniProtKB:P49768#VAR_006419
single nucleotide variant	NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)	PSEN1	Likely pathogenic	14	73640338	73640338	A	G	criteria provided, single submitter	ClinGen:CA225012,UniProtKB:P49768#VAR_010121
single nucleotide variant	NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)	PSEN1	Pathogenic/Likely pathogenic	14	73640339	73640339	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA225013
single nucleotide variant	NM_000021.4(PSEN1):c.416T>C (p.Met139Thr)	PSEN1	Pathogenic	14	73640351	73640351	T	C	criteria provided, single submitter	ClinGen:CA225016,UniProtKB:P49768#VAR_006421
single nucleotide variant	NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)	PSEN1	Pathogenic	14	73640363	73640363	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA225019,UniProtKB:P49768#VAR_006424
single nucleotide variant	NM_000021.4(PSEN1):c.436A>T (p.Met146Leu)	PSEN1	Pathogenic	14	73640371	73640371	A	T	criteria provided, single submitter	ClinGen:CA225022,UniProtKB:P49768#VAR_006426

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