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_004006.3(DMD):c.1292G>A (p.Trp431Ter)	DMD	Pathogenic	X	32662288	32662288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412660927
single nucleotide variant	NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)	DMD	Pathogenic/Likely pathogenic	X	32663155	32663155	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412661971
single nucleotide variant	NM_004006.3(DMD):c.31+1G>C	DMD	Pathogenic	X	33229398	33229398	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412675097
single nucleotide variant	NM_020297.4(ABCC9):c.3650G>A (p.Arg1217Lys)	ABCC9	Likely pathogenic	12	21981911	21981911	C	T	criteria provided, single submitter	-
Deletion	NM_004168.4(SDHA):c.897_1260+1del	SDHA	Pathogenic	5	233588	235450	TGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGGCGTCTAGAGATGTGGTGTCTCGGTCCATGACTCTGGAGATCCGAGAAGGAAGGTGCGTGTGATTTACCACCAGCACTGTCTGAGCGGGCACACGGGCCGGGGTTGCTTCTGTGAGTTTCAGCACCGCTCGCCCTCACCTTCGTGTGCAGGCGCATGTGCACAGCCACCTCTCTTAGCTGCTGGCAGGCGTCTGTTAGTCTGCGATATTTTCCTAAAGACCTACATTTTGAAAATTTTAGCCAGTTTCTTTCTCAAATCTGTGGAACAGAGTTTCTCTTAGTGTGTGTGAGTATGTGACGGAGTATGGGAGAGAGAGACACACACCCAACCTGAAGTCGGCATGTGAGCCTTGGGTGTTGTGTCTGATACCCACAGATGTTTTTTGGCAGCTTTCAAAGTGTGTGGGTTATTTGGCTTTCAGTAAAACAGTTTGCAGCTCTTTCATTGCCTGACCCTGTTCTTTAATGTAATGACATTTGCTAAATATCTGCTGGTATGGCCTTTAGAGGTTTTACATTTTTATATTAAAAAAACAGAGAAGTCAGGTGGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGCAGATCAGGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACAGAGAAGTCAAATGGTTTTTTGGAATATGGTGGCCCTCCGTACCCATTGGTTCCACATGTGTGGTTTCAGCCAACTATGTATTGAAAATAAAATTGCATCCTTACAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGATTTTGGTATCCGTGGGGGTCCTGGACCCAACCTGCCACGGATACGCAGGGACGACTGTATTTGGCATAGAGGCCTTTCTAATGCACTTACCAAGGACACCTGCAGCAGGCTGTGATCCCTGAGACGAGCGTGAGTTTAGTGAGGGCAGAGTTTTTGTTCTGGTTCTCAGCTGTGTCCCAGCACCTGGGATTGTCCCTGGCACACAGTAGCTGCTTAGAAAAGATTTGATGAGAGGGTGACCATACATGAGGGGAAATTTTCCTCAGTATCAAAACATGTTGAAACTCACACACTTCCAAGATGACGTATTCTCAGGTCTCCTGCCGTTGCCGTTCTCTGCCGTATGTGATGGTGTTCTGTCTTACCAGAGGCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCACCACCTACCTCCAGAGCAGCTGGCCACGCGCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCACGAAGGAGCCGATCCCTGTCCTCCCCACCGTGCATTATAACATGGGCGGCATTCCCACCAACTACAAGGG	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.87247del (p.Val29083fs)	TTN	Likely pathogenic	2	179422834	179422834	AC	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.63229_63230del (p.Thr21077fs)	TTN	Likely pathogenic	2	179452904	179452905	GGT	G	criteria provided, single submitter	-
Duplication	NM_004168.4(SDHA):c.171dup (p.Val58fs)	SDHA	Pathogenic/Likely pathogenic	5	224494	224495	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.1252G>T (p.Glu418Ter)	SCN5A	Likely pathogenic	3	38647528	38647528	C	A	criteria provided, single submitter	ClinGen:CA352012
Deletion	NM_000256.3(MYBPC3):c.1521del (p.Gln508fs)	MYBPC3	Pathogenic	11	47364232	47364232	GC	G	criteria provided, single submitter	-