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

Excelでダウンロード

1
...
19
20
21
22
23
...
182

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.2221G>A (p.Gly741Arg)	MYH7	Pathogenic/Likely pathogenic	14	23894969	23894969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012004,UniProtKB:P12883#VAR_004588
single nucleotide variant	NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro)	MYH7	Likely pathogenic	14	23894566	23894566	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012196
single nucleotide variant	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	MYH7	Pathogenic/Likely pathogenic	14	23894525	23894525	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012268,UniProtKB:P12883#VAR_004591
single nucleotide variant	NM_000257.4(MYH7):c.2502C>G (p.Phe834Leu)	MYH7	Likely pathogenic	14	23894155	23894155	G	C	criteria provided, single submitter	ClinGen:CA012501
single nucleotide variant	NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)	MYH7	Pathogenic	14	23894144	23894144	G	A	reviewed by expert panel	ClinGen:CA012515
Deletion	NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	MYH7	Likely pathogenic	14	23894116	23894118	CCTT	C	reviewed by expert panel	ClinGen:CA012568
single nucleotide variant	NM_000257.4(MYH7):c.2546T>C (p.Met849Thr)	MYH7	Likely pathogenic	14	23894111	23894111	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012599
single nucleotide variant	NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)	MYH7	Pathogenic/Likely pathogenic	14	23894102	23894102	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012623,UniProtKB:P12883#VAR_019862
single nucleotide variant	NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)	MYH7	Pathogenic/Likely pathogenic	14	23894013	23894013	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012781,UniProtKB:P12883#VAR_042811
single nucleotide variant	NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)	MYH7	Pathogenic	14	23893357	23893357	T	C	reviewed by expert panel	ClinGen:CA012832,UniProtKB:P12883#VAR_042812

1
...
19
20
21
22
23
...
182