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.1117A>T (p.Ile373Phe)	LMNA	Likely pathogenic	1	156105872	156105872	A	T	criteria provided, single submitter	ClinGen:CA342820510
single nucleotide variant	NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)	LMNA	Likely pathogenic	1	156106010	156106010	G	C	criteria provided, single submitter	ClinGen:CA342820778
single nucleotide variant	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
single nucleotide variant	NM_001943.5(DSG2):c.1652-1G>A	DSG2	Likely pathogenic	18	29118713	29118713	G	A	criteria provided, single submitter	ClinGen:CA402136740
Duplication	NM_003239.5(TGFB3):c.321dup (p.Phe108fs)	TGFB3	Pathogenic	14	76446915	76446916	A	AT	criteria provided, single submitter	ClinGen:CA658653821
single nucleotide variant	NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)	LMNA	Likely pathogenic	1	156084943	156084943	G	T	criteria provided, single submitter	ClinGen:CA342808375
Indel	NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys)	RYR2	Likely pathogenic	1	237802326	237802328	GAG	AAA	criteria provided, single submitter	ClinGen:CA658656997
single nucleotide variant	NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His)	RYR2	Likely pathogenic	1	237972243	237972243	T	C	criteria provided, single submitter	ClinGen:CA345424190
single nucleotide variant	NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu)	RYR2	Pathogenic	1	237995907	237995907	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345410956
single nucleotide variant	NM_004415.4(DSP):c.250C>T (p.Arg84Ter)	DSP	Pathogenic	6	7556030	7556030	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA033690