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_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)	TTN	Likely pathogenic	2	179468776	179468776	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273270
single nucleotide variant	NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)	TTN	Pathogenic/Likely pathogenic	2	179470369	179470369	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273273
single nucleotide variant	NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr)	PRKAG2	Likely pathogenic	7	151269771	151269771	G	A	criteria provided, single submitter	ClinGen:CA013518
single nucleotide variant	NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter)	MYBPC3	Pathogenic	11	47353684	47353684	A	C	criteria provided, single submitter	ClinGen:CA014787
Deletion	NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47354135	47354144	CAGCACAGCAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014440
Deletion	NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs)	MYBPC3	Likely pathogenic	11	47354378	47354379	TAA	T	criteria provided, single submitter	ClinGen:CA014212
single nucleotide variant	NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)	MYBPC3	Pathogenic	11	47354483	47354483	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014029
single nucleotide variant	NM_000256.3(MYBPC3):c.3331-1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47354525	47354525	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013982
Deletion	NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)	MYBPC3	Pathogenic	11	47354787	47354787	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013802
single nucleotide variant	NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter)	MYBPC3	Pathogenic	11	47355169	47355169	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013521