肥大型心筋症 - MGenReviews

肥大型心筋症

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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_020778.5(ALPK3):c.4391del (p.Asn1464fs)	ALPK3	Pathogenic/Likely pathogenic	15	85406125	85406125	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_032578.4(MYPN):c.3127del (p.Ser1043fs)	MYPN	Pathogenic/Likely pathogenic	10	69955258	69955258	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)	TTN	Pathogenic/Likely pathogenic	2	179424890	179424890	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)	TTN	Pathogenic/Likely pathogenic	2	179419249	179419249	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)	ALPK3	Pathogenic/Likely pathogenic	15	85401543	85401544	T	TC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer)	MYBPC3	Pathogenic/Likely pathogenic	11	47359018	47359018	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	TTN	Pathogenic/Likely pathogenic	2	179631234	179631234	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)	ACTC1	Pathogenic/Likely pathogenic	15	35084359	35084359	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47363688	47363688	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter)	FLNC	Pathogenic/Likely pathogenic	7	128490936	128490936	T	G	criteria provided, multiple submitters, no conflicts	-