不整脈原性右室心筋症

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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_170707.4(LMNA):c.1078C>T (p.Gln360Ter)	LMNA	Pathogenic	1	156105833	156105833	C	T	criteria provided, single submitter	ClinGen:CA16617001
Deletion	NM_170707.4(LMNA):c.1629_1636del (p.Val544fs)	LMNA	Pathogenic	1	156107462	156107469	AGCTGGTGC	A	criteria provided, single submitter	ClinGen:CA16617002
single nucleotide variant	NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly)	RYR2	Likely pathogenic	1	237947014	237947014	A	G	criteria provided, single submitter	ClinGen:CA16617109
single nucleotide variant	NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly)	RYR2	Likely pathogenic	1	237947581	237947581	T	G	criteria provided, single submitter	ClinGen:CA16617110
single nucleotide variant	NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr)	RYR2	Pathogenic	1	237991690	237991690	T	C	criteria provided, single submitter	ClinGen:CA16617111
single nucleotide variant	NM_001927.4(DES):c.130G>A (p.Gly44Ser)	DES	Likely pathogenic	2	220283314	220283314	G	A	criteria provided, single submitter	ClinGen:CA16617477
Indel	NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs)	DSP	Pathogenic/Likely pathogenic	6	7567596	7567601	GACACT	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618315
Indel	NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs)	DSP	Pathogenic	6	7579838	7579840	TAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618323
Duplication	NM_004415.4(DSP):c.6456dup (p.Leu2153fs)	DSP	Pathogenic/Likely pathogenic	6	7583946	7583947	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618325
Duplication	NM_004415.4(DSP):c.6466dup (p.Arg2156fs)	DSP	Pathogenic	6	7583960	7583961	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618326