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_000256.3(MYBPC3):c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer)	MYBPC3	Likely pathogenic	11	47363634	47363648	ACATTTGAACACCGC	CTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGG	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu)	MYH7	Likely pathogenic	14	23898506	23898506	T	C	criteria provided, single submitter	-
Deletion	NM_001943.5(DSG2):c.512_516del (p.Leu171fs)	DSG2	Pathogenic/Likely pathogenic	18	29101191	29101195	AGAGTT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.1826dup (p.Leu610fs)	DSG2	Pathogenic/Likely pathogenic	18	29118885	29118886	T	TG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_032578.4(MYPN):c.2704-1G>A	MYPN	Likely pathogenic	10	69948661	69948661	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)	PSEN1	Likely pathogenic	14	73659438	73659438	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)	DMD	Pathogenic	X	31187567	31187567	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.4758G>A (p.Trp1586Ter)	DMD	Pathogenic	X	32398714	32398714	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3804G>A (p.Trp1268Ter)	DMD	Pathogenic	X	32459414	32459414	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3603+1G>T	DMD	Pathogenic	X	32472778	32472778	C	A	criteria provided, multiple submitters, no conflicts	-