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_003673.4(TCAP):c.34dup (p.Glu12fs)	TCAP	Pathogenic/Likely pathogenic	17	37821644	37821645	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798823
Duplication	NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)	TTN	Pathogenic/Likely pathogenic	2	179435222	179435223	C	CAACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796030
Deletion	NM_001267550.2(TTN):c.72826del (p.Thr24276fs)	TTN	Pathogenic/Likely pathogenic	2	179438033	179438033	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796037
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+1G>T	MYBPC3	Pathogenic/Likely pathogenic	11	47354744	47354744	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380314001
single nucleotide variant	NM_000256.3(MYBPC3):c.3331-1G>C	MYBPC3	Pathogenic/Likely pathogenic	11	47354525	47354525	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA380313881
single nucleotide variant	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN	Pathogenic/Likely pathogenic	2	179392275	179392275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60949220
single nucleotide variant	NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)	ALPK3	Pathogenic/Likely pathogenic	15	85382318	85382318	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273664439
Deletion	NM_020778.5(ALPK3):c.3726del (p.Lys1243fs)	ALPK3	Pathogenic/Likely pathogenic	15	85401692	85401692	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709703
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_000256.3(MYBPC3):c.1504del (p.Arg502fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364249	47364249	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797634