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_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)	MYOZ2	Likely pathogenic	4	120072092	120072092	T	C	criteria provided, single submitter	ClinGen:CA129291,Leiden Muscular Dystrophy (MYOZ2):MYOZ2_00001,UniProtKB:Q9NPC6#VAR_065469,OMIM:605602.0001
single nucleotide variant	NM_033337.3(CAV3):c.183C>A (p.Ser61Arg)	CAV3	Likely pathogenic	3	8787280	8787280	C	A	criteria provided, single submitter	ClinGen:CA215181,Leiden Muscular Dystrophy (CAV3):CAV3_00039,UniProtKB:P56539#VAR_026696
single nucleotide variant	NM_000432.4(MYL2):c.497A>T (p.Asp166Val)	MYL2	Likely pathogenic	12	111348885	111348885	T	A	criteria provided, single submitter	ClinGen:CA010471,Leiden Muscular Dystrophy (MYL2):MYL2_00010,UniProtKB:P10916#VAR_019844
single nucleotide variant	NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)	TPM1	Likely pathogenic	15	63336295	63336295	G	C	criteria provided, single submitter	ClinGen:CA018692,Leiden Muscular Dystrophy (TPM1):TPM1_00004
single nucleotide variant	NM_001018005.2(TPM1):c.539A>T (p.Glu180Val)	TPM1	Likely pathogenic	15	63353114	63353114	A	T	criteria provided, single submitter	ClinGen:CA019024,UniProtKB:P09493#VAR_029452,Leiden Muscular Dystrophy (TPM1):TPM1_00011
Deletion	NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)	MYBPC3	Likely pathogenic	11	47359008	47359016	ACGCGCATCT	A	criteria provided, single submitter	ClinGen:CA012493
single nucleotide variant	NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	MYH7	Likely pathogenic	14	23899016	23899016	C	T	reviewed by expert panel	ClinGen:CA010192
single nucleotide variant	NM_000257.4(MYH7):c.1220G>T (p.Gly407Val)	MYH7	Likely pathogenic	14	23898475	23898475	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010392,UniProtKB:P12883#VAR_042780
single nucleotide variant	NM_000257.4(MYH7):c.1318G>A (p.Val440Met)	MYH7	Likely pathogenic	14	23898253	23898253	C	T	reviewed by expert panel	ClinGen:CA010537,UniProtKB:P12883#VAR_042784
single nucleotide variant	NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	MYH7	Likely pathogenic	14	23898201	23898201	A	G	reviewed by expert panel	ClinGen:CA010654