カテコラミン誘発性多形性心室頻拍

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
Duplication	NM_006073.4(TRDN):c.568dup (p.Ile190fs)	TRDN	Pathogenic/Likely pathogenic	6	123833489	123833490	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293872
Deletion	NM_001035.2(RYR2):c.(?_169)_(273_?)del	RYR2	Likely pathogenic	1	237494178	237494282	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001232.4(CASQ2):c.940-1G>T	CASQ2	Likely pathogenic	1	116245617	116245617	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576356
single nucleotide variant	NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn)	RYR2	Likely pathogenic	1	237969458	237969458	T	A	criteria provided, single submitter	ClinGen:CA10581136
single nucleotide variant	NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys)	RYR2	Likely pathogenic	1	237870356	237870356	C	A	criteria provided, single submitter	ClinGen:CA10586347
single nucleotide variant	NM_001035.3(RYR2):c.13737C>A (p.His4579Gln)	RYR2	Likely pathogenic	1	237955578	237955578	C	A	criteria provided, single submitter	ClinGen:CA10586348
single nucleotide variant	NM_001035.3(RYR2):c.13748C>A (p.Ser4583Tyr)	RYR2	Likely pathogenic	1	237955589	237955589	C	A	criteria provided, single submitter	ClinGen:CA10588286
single nucleotide variant	NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)	TECRL	Likely pathogenic	4	65175614	65175614	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2935458,OMIM:617242.0002
single nucleotide variant	NM_001035.3(RYR2):c.506G>T (p.Arg169Leu)	RYR2	Pathogenic/Likely pathogenic	1	237540665	237540665	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042319
single nucleotide variant	NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly)	RYR2	Likely pathogenic	1	237995892	237995892	A	G	criteria provided, single submitter	ClinGen:CA16042325