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
Duplication	NM_000256.3(MYBPC3):c.1812_1813dup (p.Asp605fs)	MYBPC3	Pathogenic	11	47362772	47362773	T	TCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA5975372
Deletion	NM_020778.5(ALPK3):c.423del	ALPK3	Pathogenic/Likely pathogenic	15	85382932	85382932	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798413
Deletion	NM_000257.4(MYH7):c.3812_3823del (p.Asn1271_Thr1274del)	MYH7	Likely pathogenic	14	23888722	23888733	CTGGTGAGGTCGT	C	criteria provided, single submitter	ClinGen:CA658798189
Deletion	NM_001267550.2(TTN):c.51870del (p.Glu17291fs)	TTN	Likely pathogenic	2	179474167	179474167	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795990
Deletion	NM_001267550.2(TTN):c.81521del (p.Pro27174fs)	TTN	Likely pathogenic	2	179429338	179429338	AG	A	criteria provided, single submitter	ClinGen:CA658796020
Deletion	NM_001267550.2(TTN):c.75443del (p.Gly25148fs)	TTN	Likely pathogenic	2	179435416	179435416	AC	A	criteria provided, single submitter	ClinGen:CA658796032
Deletion	NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del	MYBPC3	Likely pathogenic	11	47367758	47373056	na	na	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.42968dup (p.Pro14324fs)	TTN	Likely pathogenic	2	179498031	179498032	C	CT	criteria provided, single submitter	ClinGen:CA658796017
Deletion	NM_003319.4(TTN):c.80003_80028+4del	TTN	Likely pathogenic	2	179393251	179393280	CTTACTGGCAGGTTGTTTTTAAACCATTCGA	C	criteria provided, single submitter	ClinGen:CA658795972
Deletion	NM_001267550.2(TTN):c.73387del (p.Ala24463fs)	TTN	Likely pathogenic	2	179437472	179437472	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796034