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.1791C>A (p.Asn597Lys)	MYH7	Likely pathogenic	14	23896891	23896891	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011255
single nucleotide variant	NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser)	MYH7	Likely pathogenic	14	23896884	23896884	G	A	criteria provided, single submitter	ClinGen:CA011279
single nucleotide variant	NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala)	MYH7	Likely pathogenic	14	23895212	23895212	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011730
single nucleotide variant	NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro)	MYH7	Likely pathogenic	14	23894566	23894566	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012196
single nucleotide variant	NM_000257.4(MYH7):c.2502C>G (p.Phe834Leu)	MYH7	Likely pathogenic	14	23894155	23894155	G	C	criteria provided, single submitter	ClinGen:CA012501
Deletion	NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	MYH7	Likely pathogenic	14	23894116	23894118	CCTT	C	reviewed by expert panel	ClinGen:CA012568
single nucleotide variant	NM_000257.4(MYH7):c.2546T>C (p.Met849Thr)	MYH7	Likely pathogenic	14	23894111	23894111	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012599
single nucleotide variant	NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro)	MYH7	Likely pathogenic	14	23893294	23893294	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013003
single nucleotide variant	NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)	MYH7	Likely pathogenic	14	23891500	23891500	C	A	reviewed by expert panel	ClinGen:CA013375
single nucleotide variant	NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)	MYH7	Likely pathogenic	14	23891465	23891465	C	T	reviewed by expert panel	ClinGen:CA013436,UniProtKB:P12883#VAR_042821