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_000335.5(SCN5A):c.5187del (p.Thr1730fs)	SCN5A	Likely pathogenic	3	38592673	38592673	TG	T	criteria provided, single submitter	ClinGen:CA645294025
single nucleotide variant	NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter)	SCN5A	Likely pathogenic	3	38592780	38592780	G	A	criteria provided, single submitter	ClinGen:CA352142443
single nucleotide variant	NM_144573.4(NEXN):c.799G>T (p.Glu267Ter)	NEXN	Pathogenic	1	78392512	78392512	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala)	PSEN1	Likely pathogenic	14	73640299	73640299	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr)	PSEN1	Likely pathogenic	14	73640344	73640344	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.424G>A (p.Val142Ile)	PSEN1	Pathogenic	14	73640359	73640359	G	A	criteria provided, single submitter	-
Insertion	NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr)	PSEN1	Likely pathogenic	14	73653589	73653590	C	CTTA	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro)	PSEN1	Likely pathogenic	14	73659468	73659468	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.869-1G>A	PSEN1	Pathogenic/Likely pathogenic	14	73673093	73673093	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe)	PSEN1	Likely pathogenic	14	73683881	73683881	G	T	criteria provided, single submitter	-