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.4026G>A (p.Trp1342Ter)	DSP	Likely pathogenic	6	7580449	7580449	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)	DSP	Likely pathogenic	6	7584561	7584561	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003239.5(TGFB3):c.755-1G>C	TGFB3	Likely pathogenic	14	76429831	76429831	C	G	criteria provided, single submitter	-
copy number gain	GRCh37/hg19 1q43(chr1:237413038-237540797)	RYR2	Pathogenic	1	237413038	237540797	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.1063C>T (p.Gln355Ter)	DSP	Likely pathogenic	6	7567605	7567605	C	T	criteria provided, single submitter	-
Duplication	NM_004415.4(DSP):c.4332dup (p.Gln1445fs)	DSP	Likely pathogenic	6	7580752	7580753	G	GA	criteria provided, single submitter	-
Indel	NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs)	DSP	Likely pathogenic	6	7583958	7583958	G	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter)	PKP2	Pathogenic/Likely pathogenic	12	33003844	33003844	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)	DSP	Pathogenic/Likely pathogenic	6	7571739	7571739	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004415.4(DSP):c.5940dup (p.Tyr1981fs)	DSP	Likely pathogenic	6	7583434	7583435	T	TC	criteria provided, multiple submitters, no conflicts	-