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
Deletion	NM_000257.4(MYH7):c.5364_5366del (p.Gln1788_Thr1789delinsHis)	MYH7	Likely pathogenic	14	23884397	23884399	GGTC	G	criteria provided, single submitter	ClinGen:CA10577513
Deletion	NM_001267550.2(TTN):c.64688del (p.Pro21563fs)	TTN	Likely pathogenic	2	179449680	179449680	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581139
single nucleotide variant	NM_003280.3(TNNC1):c.161C>A (p.Pro54His)	TNNC1	Likely pathogenic	3	52486163	52486163	G	T	criteria provided, single submitter	ClinGen:CA10581146
single nucleotide variant	NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)	MYH7	Likely pathogenic	14	23894048	23894048	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581172
single nucleotide variant	NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)	MYH7	Likely pathogenic	14	23898213	23898213	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581177
single nucleotide variant	NM_000257.4(MYH7):c.773T>C (p.Leu258Ser)	MYH7	Likely pathogenic	14	23900650	23900650	A	G	criteria provided, single submitter	ClinGen:CA10581180
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
Duplication	NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)	TTN	Pathogenic/Likely pathogenic	2	179401027	179401028	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581827
Duplication	NM_001267550.2(TTN):c.96069dup (p.Val32024fs)	TTN	Likely pathogenic	2	179408801	179408802	C	CA	criteria provided, single submitter	ClinGen:CA10581830
single nucleotide variant	NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	TTN	Likely pathogenic	2	179421814	179421814	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581835