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_000363.5(TNNI3):c.554A>G (p.Asn185Ser)	TNNI3	Likely pathogenic	19	55663281	55663281	T	C	criteria provided, single submitter	ClinGen:CA021896
single nucleotide variant	NM_000363.5(TNNI3):c.579G>T (p.Lys193Asn)	TNNI3	Likely pathogenic	19	55663256	55663256	C	A	criteria provided, single submitter	ClinGen:CA021989
single nucleotide variant	NM_000363.5(TNNI3):c.581A>G (p.Asn194Ser)	TNNI3	Likely pathogenic	19	55663254	55663254	T	C	criteria provided, single submitter	ClinGen:CA021995
single nucleotide variant	NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys)	TNNI3	Likely pathogenic	19	55663253	55663253	G	C	criteria provided, single submitter	ClinGen:CA022000
single nucleotide variant	NM_000363.5(TNNI3):c.616A>G (p.Lys206Glu)	TNNI3	Pathogenic	19	55663219	55663219	T	C	criteria provided, single submitter	ClinGen:CA022079
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
single nucleotide variant	NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665438	55665438	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021784
single nucleotide variant	NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr)	TNNI3	Likely pathogenic	19	55663267	55663267	C	A	criteria provided, single submitter	ClinGen:CA021939
single nucleotide variant	NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro)	TNNI3	Likely pathogenic	19	55663260	55663260	C	G	criteria provided, single submitter	ClinGen:CA021964
single nucleotide variant	NM_000363.5(TNNI3):c.611G>A (p.Arg204His)	TNNI3	Pathogenic/Likely pathogenic	19	55663224	55663224	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022060,UniProtKB:P19429#VAR_042746