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
Deletion	NM_001927.4(DES):c.1223del (p.Leu408fs)	DES	Likely pathogenic	2	220286261	220286261	CT	C	criteria provided, single submitter	ClinGen:CA10602840
Deletion	NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)	SDHA	Pathogenic	5	233686	233686	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602959
Duplication	NM_003476.5(CSRP3):c.122_123dup (p.Lys42fs)	CSRP3	Pathogenic	11	19209840	19209841	T	TCC	criteria provided, single submitter	ClinGen:CA10603192
Deletion	NM_000256.3(MYBPC3):c.2716del (p.Val906fs)	MYBPC3	Pathogenic	11	47357449	47357449	AC	A	criteria provided, single submitter	ClinGen:CA10603212
single nucleotide variant	NM_000256.3(MYBPC3):c.906-1G>A	MYBPC3	Pathogenic	11	47368581	47368581	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603214
Indel	NM_004006.3(DMD):c.10594_10595delinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG (p.Glu3532delinsPheLysCysArgCysLysLysThrLeuLysLysLeuTer)	DMD	Pathogenic	X	31165594	31165595	TC	CCCCACTTTAAAGTTTCTTTAAAGTTTTCTTACACCTACATTTAAA	criteria provided, single submitter	ClinGen:CA10603476
single nucleotide variant	NM_004006.3(DMD):c.1288A>T (p.Arg430Ter)	DMD	Pathogenic	X	32662292	32662292	T	A	criteria provided, single submitter	ClinGen:CA10603477
Duplication	NM_001943.5(DSG2):c.495dup (p.Gly166fs)	DSG2	Pathogenic	18	29101176	29101177	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA8928333
single nucleotide variant	NM_004006.3(DMD):c.6290+1G>C	DMD	Pathogenic	X	32305645	32305645	C	G	criteria provided, single submitter	ClinGen:CA10603583
single nucleotide variant	NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)	DMD	Pathogenic	X	32583946	32583946	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603723