特発性拡張型心筋症

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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
Indel	NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG	TTN	Likely pathogenic	2	179469296	179469502	AAACACTACAATAACAAAATAACAGCTTATCGTGTGTGGTTTTGAGTTTAATTATCAAATTCCAAGGTTATATTAAAATGGCATCAAACCAGAGTCATGTACTTTTAATGTGTATAAGAAAATATTCAGAAGAGTTTACCCCATATCTTTTCTCTACAGCAGTGTTGGTGACTTCCTCCCATTCTGCTTTCTTCCTACTTGCATCAC	CCTTAT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.89197+2T>G	TTN	Likely pathogenic	2	179418639	179418639	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.51436+1G>T	TTN	Pathogenic	2	179474816	179474816	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.66464-2A>G	TTN	Likely pathogenic	2	179446533	179446533	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.55121-1G>A	TTN	Likely pathogenic	2	179466878	179466878	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter)	SCN5A	Pathogenic	3	38663938	38663938	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38608056	38608056	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter)	SCN5A	Likely pathogenic	3	38622704	38622704	A	T	criteria provided, single submitter	-
Deletion	NM_004168.4(SDHA):c.63+2del	SDHA	Likely pathogenic	5	218535	218535	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.1064+1G>T	SDHA	Likely pathogenic	5	233761	233761	G	T	criteria provided, multiple submitters, no conflicts	-