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_033337.3(CAV3):c.366dup (p.Leu123fs)	CAV3	Likely pathogenic	3	8787462	8787463	C	CA	criteria provided, single submitter	ClinGen:CA658796224
single nucleotide variant	NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)	TTN	Likely pathogenic	2	179397637	179397637	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349413691
Deletion	NM_001267550.2(TTN):c.104087del (p.Pro34696fs)	TTN	Likely pathogenic	2	179397255	179397255	TG	T	criteria provided, single submitter	ClinGen:CA430236105
Deletion	NM_001267550.2(TTN):c.56716del (p.Glu18906fs)	TTN	Likely pathogenic	2	179463721	179463721	TC	T	criteria provided, single submitter	ClinGen:CA658796056
single nucleotide variant	NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)	TTN	Likely pathogenic	2	179464475	179464475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349534533
Deletion	NM_001267550.2(TTN):c.55896_55908del (p.Arg18632fs)	TTN	Likely pathogenic	2	179465723	179465735	GCTTATTGCACTGC	G	criteria provided, single submitter	ClinGen:CA658796062
Deletion	NM_001267550.2(TTN):c.67609del (p.Ile22537fs)	TTN	Likely pathogenic	2	179444315	179444315	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796010
Deletion	NM_001267550.2(TTN):c.107681-4_107710del	TTN	Likely pathogenic	2	179392005	179392038	GATGGAAGAGCTTCAATTTTAGGCGGAATTCCTTT	G	criteria provided, single submitter	ClinGen:CA658795971
Deletion	NM_001267550.2(TTN):c.106049del (p.Thr35350fs)	TTN	Likely pathogenic	2	179395293	179395293	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795975
Deletion	NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)	TTN	Likely pathogenic	2	179396151	179396152	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60954084