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
Indel	NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)	TTN	Pathogenic	2	179584315	179584316	GC	T	criteria provided, single submitter	ClinGen:CA207334
single nucleotide variant	NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro)	MYH7	Likely pathogenic	14	23885280	23885280	A	G	criteria provided, single submitter	ClinGen:CA207077
single nucleotide variant	NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47361204	47361204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279293
single nucleotide variant	NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)	TTN	Pathogenic/Likely pathogenic	2	179393524	179393524	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351280,ClinVar:424806
Duplication	NM_001267550.2(TTN):c.105753dup (p.Arg35252fs)	TTN	Likely pathogenic	2	179395588	179395589	G	GT	criteria provided, single submitter	ClinGen:CA351283,ClinVar:424806
single nucleotide variant	NM_000256.3(MYBPC3):c.2414-1G>A	MYBPC3	Likely pathogenic	11	47359131	47359131	C	T	criteria provided, single submitter	ClinGen:CA279034
single nucleotide variant	NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)	MYH7	Likely pathogenic	14	23897743	23897743	A	G	criteria provided, single submitter	ClinGen:CA278943
Duplication	NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter)	TCAP	Likely pathogenic	17	37821636	37821637	C	CGAGGTGT	criteria provided, single submitter	ClinGen:CA278947
single nucleotide variant	NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr)	TNNT2	Likely pathogenic	1	201331098	201331098	A	G	criteria provided, single submitter	ClinGen:CA279262
single nucleotide variant	NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr)	VCL	Likely pathogenic	10	75854207	75854207	G	T	criteria provided, single submitter	ClinGen:CA279267