筋ジストロフィー

小児・神経疾患

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_013382.7(POMT2):c.1293dup (p.Met432fs)	POMT2	Pathogenic	14	77753125	77753126	T	TG	criteria provided, single submitter	ClinGen:CA658798240
single nucleotide variant	NM_013382.7(POMT2):c.648C>A (p.Cys216Ter)	POMT2	Pathogenic	14	77769186	77769186	G	T	criteria provided, single submitter	ClinGen:CA390520436
single nucleotide variant	NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)	FKRP	Pathogenic/Likely pathogenic	19	47260140	47260140	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA406497356
single nucleotide variant	NM_001848.3(COL6A1):c.1056+5G>A	COL6A1	Pathogenic	21	47410745	47410745	G	A	criteria provided, single submitter	ClinGen:CA645606014
Deletion	NM_001849.4(COL6A2):c.1059del (p.Asp354fs)	COL6A2	Pathogenic	21	47537790	47537790	GC	G	criteria provided, single submitter	ClinGen:CA658799476
single nucleotide variant	NM_001848.3(COL6A1):c.930+189C>T	COL6A1	Pathogenic	21	47409881	47409881	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799468
Deletion	NM_001849.4(COL6A2):c.641_645del (p.Asn214fs)	COL6A2	Pathogenic	21	47532418	47532422	AACGAC	A	criteria provided, single submitter	ClinGen:CA638497859
Duplication	NC_000023.10:g.(?_31341695)_(31341795_?)dup	DMD	Pathogenic	X	31341695	31341795	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31679355)_(31968534_?)del	DMD	Pathogenic	X	31697472	31986651	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31773940)_(32849840_?)del	DMD	Likely pathogenic	X	31792057	32867957	na	na	criteria provided, single submitter	-