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
single nucleotide variant	NM_001103.4(ACTN2):c.683T>C (p.Met228Thr)	ACTN2	Likely pathogenic	1	236894600	236894600	T	C	criteria provided, single submitter	ClinGen:CA274533,UniProtKB:P35609#VAR_074292,OMIM:102573.0007
single nucleotide variant	NM_001103.4(ACTN2):c.2527-1G>A	ACTN2	Pathogenic	1	236925760	236925760	G	A	criteria provided, single submitter	ClinGen:CA335020
single nucleotide variant	NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter)	ACTN2	Pathogenic	1	236925812	236925812	C	T	criteria provided, single submitter	ClinGen:CA335049
single nucleotide variant	NM_001103.4(ACTN2):c.352G>T (p.Gly118Cys)	ACTN2	Likely pathogenic	1	236882304	236882304	G	T	criteria provided, single submitter	ClinGen:CA345373687
Deletion	NM_001103.4(ACTN2):c.1793del (p.Pro598fs)	ACTN2	Likely pathogenic	1	236914904	236914904	AC	A	criteria provided, single submitter	ClinGen:CA658795623
single nucleotide variant	NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter)	ALPK3	Pathogenic/Likely pathogenic	15	85383345	85383345	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606804
single nucleotide variant	NM_020778.5(ALPK3):c.4499+5G>C	ALPK3	Likely pathogenic	15	85406876	85406876	G	C	criteria provided, single submitter	ClinGen:CA16607893
Deletion	NM_020778.5(ALPK3):c.528del (p.Ile177fs)	ALPK3	Pathogenic	15	85383038	85383038	AG	A	criteria provided, single submitter	ClinGen:CA16620013
single nucleotide variant	NM_020778.5(ALPK3):c.1093C>T (p.Gln365Ter)	ALPK3	Pathogenic/Likely pathogenic	15	85383603	85383603	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709121
Deletion	NM_020778.5(ALPK3):c.1417del (p.Gln473fs)	ALPK3	Pathogenic	15	85383922	85383922	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709182