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.2893G>A (p.Glu965Lys)	MYH7	Likely pathogenic	14	23893145	23893145	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279332
single nucleotide variant	NM_000257.4(MYH7):c.2524A>G (p.Ser842Gly)	MYH7	Likely pathogenic	14	23894133	23894133	T	C	criteria provided, single submitter	ClinGen:CA279325
single nucleotide variant	NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr)	MYH7	Likely pathogenic	14	23894623	23894623	A	T	criteria provided, single submitter	ClinGen:CA279312
single nucleotide variant	NM_000257.4(MYH7):c.2201A>C (p.Gln734Pro)	MYH7	Likely pathogenic	14	23894989	23894989	T	G	criteria provided, single submitter	ClinGen:CA279297,UniProtKB:P12883#VAR_042800
single nucleotide variant	NM_000257.4(MYH7):c.2156G>C (p.Arg719Pro)	MYH7	Likely pathogenic	14	23895179	23895179	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA277665
single nucleotide variant	NM_000257.4(MYH7):c.2104A>G (p.Ile702Val)	MYH7	Likely pathogenic	14	23895231	23895231	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279302
single nucleotide variant	NM_000257.4(MYH7):c.1479G>C (p.Met493Ile)	MYH7	Likely pathogenic	14	23897808	23897808	C	G	criteria provided, single submitter	ClinGen:CA277680
single nucleotide variant	NM_000257.4(MYH7):c.755T>G (p.Phe252Cys)	MYH7	Likely pathogenic	14	23900668	23900668	A	C	criteria provided, single submitter	ClinGen:CA277662
Deletion	NM_000256.3(MYBPC3):c.1359del (p.Val454fs)	MYBPC3	Pathogenic	11	47364479	47364479	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279624
single nucleotide variant	NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter)	MYBPC3	Pathogenic	11	47364621	47364621	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA044146