特発性拡張型心筋症

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
Deletion	NC_000023.11:g.(?_32287509)_(32390201_?)del	DMD	Pathogenic	X	32305626	32408318	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32563256)_(32591983_?)dup	DMD	Pathogenic	X	32563256	32591983	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8655C>A (p.Tyr2885Ter)	DMD	Pathogenic	X	31497113	31497113	G	T	criteria provided, single submitter	-
Duplication	NM_004006.3(DMD):c.5455_5459dup (p.Asn1820fs)	DMD	Pathogenic	X	32364186	32364187	A	ATTGTC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.5026-2A>G	DMD	Pathogenic/Likely pathogenic	X	32382829	32382829	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.3742C>T (p.Gln1248Ter)	DMD	Pathogenic	X	32466617	32466617	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3604-1G>C	DMD	Pathogenic	X	32466756	32466756	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1006G>T (p.Glu336Ter)	DMD	Pathogenic	X	32663224	32663224	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.918T>A (p.Tyr306Ter)	DMD	Pathogenic	X	32716029	32716029	A	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.650-1827_771del	DMD	Pathogenic	X	32717289	32719237	GTGGCCTTGGCAACATTTCCACTTCCTGGATGGCTTCAATGCTCACTTGTTGAGGCAAAACTTGGAAGAGTGATGTGATGTACATTAAGATGGACTTCTTATCTGGATAGGTGGTATCAACATCTGTAAGCACATTAACACTACACATCAATTTTTGGTTTCTATATTTGAGACTCTAAAAGGATAATGAACAAATCAAAGTTAAAGGAAGACGATAGATTAATGAACAGTGAATTGTCCATGAATGTCCTCCAGAGACTAATTAGAACATGAGAATGAGGCCTAAAATGTCTTTCCAATTTGGCAGACCAATGAGATGAGCAGTAAAGTTAATTTATTTTCCTTGTTCATATAAAAACTTCATTCCATATTACTTTTTCCTAAGTCAAATTGCCAAACTAGCCCATCTAACAGAGTAGCTTTCATTAGATAAGAAACAAAAATAAAAGATTACATTTTCCCTCCAATGGAAAGTTATATTAACATGTCAATTCAAATGGTGCACTGGTAATTAAACAAATACACAAAATGGTTTACCGCTTTGGTTCTCAGTAAAGAAACCTGATACCTTTTAACTGAATGTTGCTGATATTAAAGTATGCAGAGAGCTAAATAAGTCTCTGCTGAAATGAGTCATGTATCCACAATATAAATTAAACAGAAAAATACCATATAATGATTTTTACTATTCCGTGTATGTTAAAAATATTTGTTTACATTGTGGTGCATGGGATAAAGTAGAATATCACTTTCCTTCTCAGACATTAGAGACAAATGTAAAAGTCCCGCACATTAAGTTGATCTGACTTCATATCCTTTGCCACATCCAGAAAGTGAATGAAACGCAGCATTTAAAGTCAATAATACTTTGTAATAACACATATAAAGTGGCAGCTCCTTCAAAAGATTCATTTGCTACTTGGCATTAAAATTTACTTACTGCACTCATTCCAGTGAACCAAGATGTAAAGTAATCCTTTATGTGAAGTATGTCATTAGTACTAGAAATGTTAACACATAAGTTCTGACTATGAAATGCTAGCATTTCATTGTCATCCTTTTTCATCCTTTAAAAAGAAGGAAATTTTGTCATTGAGACAGCATGTGTAAATCTGGAGGATATTAAGTGAAATAAGCCAGGCACAGAAAGATAAGTACCACATGATCTCACTAACACATGGAATCTAAAAAGTTGAATTCATAGAAGTAGAGAGTAGAATGGTGTTTACCAGGGGCTGTGGGGCAGGGGTTGGGAAGATGTTGGTCAAAGGACACAAAATTTCAGTTAGATAGGAAAAATAAGTTCAGGAGATCTATTGTACAACCTAGTTTATAACAATGTATTGTATTCCTAAAAATTGCTGCGAGAGTAGATATTAAGTATACTCACCATGAAACATGCTAAGCATATGAAGTAAAACATGTATTAATTAGTTCAATGTAGCCATTCCAGAACGTATACATATTTCAAAACATCGTGTTGTACATGATAAATGTATGCAATTTTAGTTTTTTAATCATTAATGAATATAAAAATCAAAGATAAAAGATAAACATAAATCCTGGCAGGAGGTCAAGGTAATGTGGCAATGTATTTTCCTTGCCATACAATTTATCTTAGCTTAACTACTATTAAGATATCTGTATTCAGTATGTATATTCTGATCAGGTGTTCTGATTATAAGTGAAAAAGCCAAGAGTAAAGTCTCAAGTCCGTTAGCACAAAAGCAGGTTGAACAAGTGACTTCATCAATTCTTTTGCAAGTATCAGAACCATGATTAATCAGAACAGCTATTTTTAAAGTATTTTTAAAAAGAGTTACAAGAGACGAAAAAATTAATGTTCCTTGGTCTACTTCTATCCGTAGAACAATACAGTGCTTCTCAATTCTTAATGTACATATGAATCACCTGGGGATCTTTTAAAACTACAGAATCTGATTCAATAGA	G	criteria provided, single submitter	-