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_000363.5(TNNI3):c.616A>G (p.Lys206Glu)	TNNI3	Pathogenic	19	55663219	55663219	T	C	criteria provided, single submitter	ClinGen:CA022079
single nucleotide variant	NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys)	TNNI3	Likely pathogenic	19	55663253	55663253	G	C	criteria provided, single submitter	ClinGen:CA022000
single nucleotide variant	NM_000363.5(TNNI3):c.581A>G (p.Asn194Ser)	TNNI3	Likely pathogenic	19	55663254	55663254	T	C	criteria provided, single submitter	ClinGen:CA021995
single nucleotide variant	NM_000363.5(TNNI3):c.579G>T (p.Lys193Asn)	TNNI3	Likely pathogenic	19	55663256	55663256	C	A	criteria provided, single submitter	ClinGen:CA021989
single nucleotide variant	NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser)	TNNI3	Likely pathogenic	19	55663281	55663281	T	C	criteria provided, single submitter	ClinGen:CA021896
single nucleotide variant	NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr)	TNNI3	Pathogenic	19	55665399	55665399	T	G	criteria provided, single submitter	ClinGen:CA021859
single nucleotide variant	NM_000363.5(TNNI3):c.547A>G (p.Lys183Glu)	TNNI3	Pathogenic	19	55665400	55665400	T	C	criteria provided, single submitter	ClinGen:CA021854
single nucleotide variant	NM_000363.5(TNNI3):c.521A>C (p.Lys174Thr)	TNNI3	Likely pathogenic	19	55665426	55665426	T	G	criteria provided, single submitter	ClinGen:CA021804
single nucleotide variant	NM_000363.5(TNNI3):c.514C>G (p.His172Asp)	TNNI3	Likely pathogenic	19	55665433	55665433	G	C	criteria provided, single submitter	ClinGen:CA021797
single nucleotide variant	NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665540	55665540	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021615

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