不整脈原性右室心筋症 - MGenReviews

不整脈原性右室心筋症

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
Deletion	NM_004415.4(DSP):c.1751del (p.Glu584fs)	DSP	Pathogenic/Likely pathogenic	6	7571665	7571665	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005141
Deletion	NM_004415.4(DSP):c.2920del (p.Thr974fs)	DSP	Likely pathogenic	6	7578052	7578052	GA	G	criteria provided, single submitter	ClinGen:CA005678
single nucleotide variant	NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)	DSP	Pathogenic/Likely pathogenic	6	7580053	7580053	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004366
Duplication	NM_001008844.3(DSP):c.3582+1242dup	DSP	Likely pathogenic	6	7581245	7581246	C	CA	criteria provided, single submitter	ClinGen:CA004180
Deletion	NM_004415.4(DSP):c.3526del (p.Val1176fs)	DSP	Pathogenic/Likely pathogenic	6	7579947	7579947	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005835
Indel	NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs)	DSP	Likely pathogenic	6	7559527	7559528	CC	AGCTCGAGTCCCTCG	criteria provided, single submitter	ClinGen:CA006266
single nucleotide variant	NM_004415.4(DSP):c.2130+1G>A	DSP	Likely pathogenic	6	7572302	7572302	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005266
Deletion	NM_004572.3(PKP2):c.(?_1689)_(1806_?)del	PKP2	Likely pathogenic	12	32976979	32977096	na	na	criteria provided, single submitter	-
Deletion	NM_001005242.3(PKP2):c.2419del (p.Thr807fs)	PKP2	Likely pathogenic	12	32945604	32945604	GT	G	criteria provided, single submitter	ClinGen:CA012158
single nucleotide variant	NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter)	PKP2	Pathogenic/Likely pathogenic	12	33031042	33031042	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012485

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