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_000256.3(MYBPC3):c.821+2T>C	MYBPC3	Pathogenic	11	47369406	47369406	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015895
Deletion	NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47368190	47368191	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016068,OMIM:600958.0030
single nucleotide variant	NM_000256.3(MYBPC3):c.927-10C>A	MYBPC3	Pathogenic/Likely pathogenic	11	47367931	47367931	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016112
single nucleotide variant	NM_000256.3(MYBPC3):c.927-2A>G	MYBPC3	Pathogenic	11	47367923	47367923	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016121
single nucleotide variant	NM_000256.3(MYBPC3):c.927-9G>A	MYBPC3	Pathogenic	11	47367930	47367930	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016127
Deletion	NM_000256.3(MYBPC3):c.984_1054del (p.Pro329fs)	MYBPC3	Pathogenic	11	47367794	47367864	AGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGT	A	criteria provided, single submitter	ClinGen:CA016227
single nucleotide variant	NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	MYH7	Pathogenic/Likely pathogenic	14	23899059	23899059	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010133,UniProtKB:P12883#VAR_019849
single nucleotide variant	NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	MYH7	Likely pathogenic	14	23899016	23899016	C	T	reviewed by expert panel	ClinGen:CA010192
single nucleotide variant	NM_000257.4(MYH7):c.1220G>T (p.Gly407Val)	MYH7	Likely pathogenic	14	23898475	23898475	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010392,UniProtKB:P12883#VAR_042780
single nucleotide variant	NM_000257.4(MYH7):c.1318G>A (p.Val440Met)	MYH7	Likely pathogenic	14	23898253	23898253	C	T	reviewed by expert panel	ClinGen:CA010537,UniProtKB:P12883#VAR_042784