肥大型心筋症 - MGenReviews

肥大型心筋症

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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
Duplication	NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs)	MYBPC3	Pathogenic	11	47356629	47356630	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg)	MYBPC3	Likely pathogenic	11	47359280	47359280	A	T	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs)	MYBPC3	Pathogenic	11	47360070	47360071	C	CCGAT	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.310del (p.Leu104fs)	MYBPC3	Pathogenic	11	47372149	47372149	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000363.5(TNNI3):c.404T>C (p.Leu135Pro)	TNNI3	Likely pathogenic	19	55665543	55665543	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.741C>A (p.Phe247Leu)	MYH7	Likely pathogenic	14	23900682	23900682	G	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000256.3(MYBPC3):c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer)	MYBPC3	Likely pathogenic	11	47363634	47363648	ACATTTGAACACCGC	CTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGG	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu)	MYH7	Likely pathogenic	14	23898506	23898506	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_032578.4(MYPN):c.2704-1G>A	MYPN	Likely pathogenic	10	69948661	69948661	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)	FLNC	Pathogenic/Likely pathogenic	7	128498475	128498475	C	A	criteria provided, multiple submitters, no conflicts	-

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