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_020433.5(JPH2):c.482C>A (p.Thr161Lys)	JPH2	Pathogenic/Likely pathogenic	20	42788945	42788945	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345816
single nucleotide variant	NM_000363.5(TNNI3):c.485G>T (p.Arg162Leu)	TNNI3	Likely pathogenic	19	55665462	55665462	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000363.5(TNNI3):c.404T>C (p.Leu135Pro)	TNNI3	Likely pathogenic	19	55665543	55665543	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter)	TNNI3	Pathogenic	19	55665424	55665424	G	A	criteria provided, single submitter	ClinGen:CA10581187
single nucleotide variant	NM_000363.5(TNNI3):c.302A>G (p.His101Arg)	TNNI3	Likely pathogenic	19	55666179	55666179	T	C	criteria provided, single submitter	ClinGen:CA021470
single nucleotide variant	NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665540	55665540	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021615
single nucleotide variant	NM_000363.5(TNNI3):c.514C>G (p.His172Asp)	TNNI3	Likely pathogenic	19	55665433	55665433	G	C	criteria provided, single submitter	ClinGen:CA021797
single nucleotide variant	NM_000363.5(TNNI3):c.521A>C (p.Lys174Thr)	TNNI3	Likely pathogenic	19	55665426	55665426	T	G	criteria provided, single submitter	ClinGen:CA021804
single nucleotide variant	NM_000363.5(TNNI3):c.547A>G (p.Lys183Glu)	TNNI3	Pathogenic	19	55665400	55665400	T	C	criteria provided, single submitter	ClinGen:CA021854
single nucleotide variant	NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr)	TNNI3	Pathogenic	19	55665399	55665399	T	G	criteria provided, single submitter	ClinGen:CA021859