肥大型心筋症 - MGenReviews

肥大型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	MYBPC3	Pathogenic	11	47356593	47356593	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013154
Deletion	NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs)	MYBPC3	Pathogenic	11	47355520	47355524	ATGGTC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013218
Deletion	NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs)	MYBPC3	Pathogenic	11	47355258	47355258	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013363
Duplication	NM_000256.3(MYBPC3):c.3068dup (p.Asn1023fs)	MYBPC3	Pathogenic	11	47355229	47355230	G	GT	criteria provided, single submitter	ClinGen:CA013410
single nucleotide variant	NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)	MYBPC3	Pathogenic	11	47355117	47355117	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013596
single nucleotide variant	NM_000256.3(MYBPC3):c.3190+2T>G	MYBPC3	Pathogenic	11	47355106	47355106	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013616
single nucleotide variant	NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)	MYBPC3	Pathogenic	11	47354842	47354842	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013715
Duplication	NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs)	MYBPC3	Pathogenic	11	47354883	47354883	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA013666
Insertion	NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)	MYBPC3	Pathogenic	11	47354848	47354849	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA013684
single nucleotide variant	NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47354822	47354822	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013727