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_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)	TTN	Likely pathogenic	2	179435313	179435313	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349622093
single nucleotide variant	NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)	TTN	Pathogenic/Likely pathogenic	2	179451927	179451927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349446699
Duplication	NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)	TTN	Likely pathogenic	2	179505974	179505975	G	GT	criteria provided, single submitter	ClinGen:CA658657167
single nucleotide variant	NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly)	SCN5A	Likely pathogenic	3	38648180	38648180	A	C	criteria provided, single submitter	ClinGen:CA014359,UniProtKB:Q14524#VAR_074347
single nucleotide variant	NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)	SCN5A	Pathogenic/Likely pathogenic	3	38648173	38648173	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014389,UniProtKB:Q14524#VAR_055169
single nucleotide variant	NM_001267550.2(TTN):c.106375-2A>G	TTN	Pathogenic/Likely pathogenic	2	179394845	179394845	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349405662
single nucleotide variant	NM_001267550.2(TTN):c.634C>T (p.Gln212Ter)	TTN	Likely pathogenic	2	179664587	179664587	G	A	criteria provided, single submitter	ClinGen:CA349524918
single nucleotide variant	NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr)	PSEN1	Likely pathogenic	14	73640338	73640338	A	T	criteria provided, single submitter	ClinGen:CA390304891
single nucleotide variant	NM_000021.4(PSEN1):c.714C>G (p.Ile238Met)	PSEN1	Likely pathogenic	14	73659517	73659517	C	G	criteria provided, single submitter	ClinGen:CA390299722
Deletion	NM_004006.3(DMD):c.10121del (p.Lys3374fs)	DMD	Pathogenic	X	31196888	31196888	CT	C	criteria provided, single submitter	ClinGen:CA658658952