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_000257.4(MYH7):c.842G>C (p.Arg281Thr)	MYH7	Pathogenic/Likely pathogenic	14	23900163	23900163	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016879
single nucleotide variant	NM_000257.4(MYH7):c.730T>C (p.Phe244Leu)	MYH7	Pathogenic	14	23900796	23900796	A	G	criteria provided, single submitter	ClinGen:CA016711,UniProtKB:P12883#VAR_020802
single nucleotide variant	NM_000257.4(MYH7):c.649G>C (p.Glu217Gln)	MYH7	Likely pathogenic	14	23900877	23900877	C	G	criteria provided, single submitter	ClinGen:CA016603
single nucleotide variant	NM_000257.4(MYH7):c.595G>A (p.Ala199Thr)	MYH7	Likely pathogenic	14	23901014	23901014	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.442A>C (p.Ser148Arg)	MYH7	Likely pathogenic	14	23901908	23901908	T	G	criteria provided, single submitter	ClinGen:CA014971
single nucleotide variant	NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys)	ACTC1	Likely pathogenic	15	35083353	35083353	C	T	criteria provided, single submitter	ClinGen:CA020006
Deletion	NM_005159.5(ACTC1):c.275_277del (p.Phe92del)	ACTC1	Likely pathogenic	15	35085623	35085625	TAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019727
single nucleotide variant	NM_001018005.2(TPM1):c.276C>G (p.Ile92Met)	TPM1	Pathogenic	15	63349219	63349219	C	G	criteria provided, single submitter	ClinGen:CA018813
single nucleotide variant	NM_001018005.2(TPM1):c.625G>A (p.Ala209Thr)	TPM1	Likely pathogenic	15	63353973	63353973	G	A	criteria provided, single submitter	ClinGen:CA018213
single nucleotide variant	NM_000363.5(TNNI3):c.617A>T (p.Lys206Ile)	TNNI3	Pathogenic	19	55663218	55663218	T	A	criteria provided, single submitter	ClinGen:CA022085