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
single nucleotide variant	NM_000257.4(MYH7):c.1801C>T (p.Leu601Phe)	MYH7	Pathogenic	14	23896881	23896881	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.869-2A>T	PSEN1	Pathogenic	14	73673092	73673092	A	T	criteria provided, single submitter	-
Insertion	NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs)	FKTN	Pathogenic	9	108366528	108366529	A	ATGCCTAAATC	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.2134C>G (p.Arg712Gly)	MYH7	Likely pathogenic	14	23895201	23895201	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4336T>C (p.Tyr1446His)	SCN5A	Likely pathogenic	3	38598030	38598030	A	G	criteria provided, single submitter	ClinGen:CA16617946
Duplication	NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs)	MYBPC3	Pathogenic	11	47356629	47356630	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg)	MYBPC3	Likely pathogenic	11	47359280	47359280	A	T	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs)	MYBPC3	Pathogenic	11	47360070	47360071	C	CCGAT	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.310del (p.Leu104fs)	MYBPC3	Pathogenic	11	47372149	47372149	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000363.5(TNNI3):c.404T>C (p.Leu135Pro)	TNNI3	Likely pathogenic	19	55665543	55665543	A	G	criteria provided, single submitter	-