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_001943.5(DSG2):c.769C>T (p.Gln257Ter)	DSG2	Pathogenic	18	29104489	29104489	C	T	criteria provided, single submitter	ClinGen:CA022251
single nucleotide variant	NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter)	DSG2	Pathogenic	18	29118812	29118812	C	T	criteria provided, single submitter	ClinGen:CA021541
single nucleotide variant	NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter)	DSG2	Likely pathogenic	18	29122796	29122796	T	G	criteria provided, single submitter	ClinGen:CA021750
single nucleotide variant	NM_001927.4(DES):c.364T>G (p.Tyr122Asp)	DES	Likely pathogenic	2	220283548	220283548	T	G	criteria provided, single submitter	ClinGen:CA308313
single nucleotide variant	NM_001927.4(DES):c.634C>T (p.Arg212Ter)	DES	Pathogenic/Likely pathogenic	2	220284872	220284872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA308316
single nucleotide variant	NM_001927.4(DES):c.1371+1G>C	DES	Likely pathogenic	2	220290468	220290468	G	C	criteria provided, single submitter	ClinGen:CA308297
single nucleotide variant	NM_001927.4(DES):c.1412A>C (p.Ter471Ser)	DES	Likely pathogenic	2	220290711	220290711	A	C	criteria provided, single submitter	ClinGen:CA308298
single nucleotide variant	NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro)	PKP2	Likely pathogenic	12	32945624	32945624	A	G	criteria provided, single submitter	ClinGen:CA012137
single nucleotide variant	NM_001005242.3(PKP2):c.2390C>T (p.Ser797Phe)	PKP2	Likely pathogenic	12	32945633	32945633	G	A	criteria provided, single submitter	ClinGen:CA012120
single nucleotide variant	NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)	PKP2	Pathogenic	12	32949146	32949146	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011986,UniProtKB:Q99959#VAR_021151