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_033337.3(CAV3):c.99C>G (p.Asn33Lys)	CAV3	Pathogenic	3	8775661	8775661	C	G	criteria provided, single submitter	ClinGen:CA119446,Leiden Muscular Dystrophy (CAV3):CAV3_00038,UniProtKB:P56539#VAR_021016,OMIM:601253.0014
Duplication	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Pathogenic/Likely pathogenic	11	47353677	47353678	T	TGCAGACATAGATGCCCCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA014796,OMIM:600958.0002
single nucleotide variant	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3	Pathogenic	11	47364129	47364129	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010806,OMIM:600958.0006
single nucleotide variant	NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47354789	47354789	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013793,OMIM:600958.0014
single nucleotide variant	NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	MYBPC3	Pathogenic/Likely pathogenic	11	47359085	47359085	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012326,UniProtKB:Q14896#VAR_029416,OMIM:600958.0015
single nucleotide variant	NM_000256.3(MYBPC3):c.906-1G>C	MYBPC3	Pathogenic	11	47368581	47368581	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016027,OMIM:600958.0017
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Pathogenic	11	47354743	47354743	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013951,OMIM:600958.0020
single nucleotide variant	NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)	TNNT2	Pathogenic	1	201334766	201334766	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004157,OMIM:191045.0001
single nucleotide variant	NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)	TNNT2	Pathogenic/Likely pathogenic	1	201334425	201334425	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004273,OMIM:191045.0002
single nucleotide variant	NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)	TNNT2	Pathogenic	1	201334372	201334372	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004383,UniProtKB:P45379#VAR_007607,OMIM:191045.0005