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_004415.4(DSP):c.1857C>A (p.Tyr619Ter)	DSP	Pathogenic	6	7571771	7571771	C	A	criteria provided, single submitter	ClinGen:CA362679583
single nucleotide variant	NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter)	DSP	Pathogenic	6	7575638	7575638	T	A	criteria provided, single submitter	ClinGen:CA362681581
Indel	NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs)	DSP	Pathogenic	6	7580658	7580660	TGA	G	criteria provided, single submitter	ClinGen:CA658796713
Deletion	NM_001005242.3(PKP2):c.1771del (p.Arg591fs)	PKP2	Pathogenic	12	32975469	32975469	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797868
single nucleotide variant	NM_001005242.3(PKP2):c.1379-2A>T	PKP2	Pathogenic/Likely pathogenic	12	32994141	32994141	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384368196
single nucleotide variant	NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter)	PKP2	Pathogenic	12	33003859	33003859	G	A	criteria provided, single submitter	ClinGen:CA384370761
Duplication	NM_001005242.3(PKP2):c.795_811dup (p.Val271fs)	PKP2	Pathogenic	12	33031002	33031003	A	ACCTGCCCGACAGTGAGC	criteria provided, single submitter	ClinGen:CA658797866
Deletion	NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)	TGFB3	Pathogenic/Likely pathogenic	14	76425664	76425667	TTCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798230
single nucleotide variant	NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)	LMNA	Likely pathogenic	1	156104291	156104291	T	G	criteria provided, single submitter	ClinGen:CA342817035
single nucleotide variant	NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106974	156106974	G	A	criteria provided, single submitter	ClinGen:CA342823348