筋ジストロフィー

小児・神経疾患

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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
single nucleotide variant	NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val)	COL6A3	Pathogenic	2	238268783	238268783	C	A	criteria provided, single submitter	ClinGen:CA351216678
single nucleotide variant	NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)	COL6A3	Pathogenic	2	238305385	238305385	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2189961
single nucleotide variant	NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg)	COL6A3	Likely pathogenic	2	238258816	238258816	C	T	criteria provided, single submitter	ClinGen:CA351209193
single nucleotide variant	NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)	COL6A3	Pathogenic/Likely pathogenic	2	238268783	238268783	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351216671
Deletion	NM_004393.6(DAG1):c.454_467del (p.Phe152fs)	DAG1	Likely pathogenic	3	49568398	49568411	GTTCTCCATCGAGGT	G	criteria provided, single submitter	ClinGen:CA658657296
Deletion	NC_000006.12:g.(?_129390037)_(129391573_?)del	LAMA2	Pathogenic	6	129711182	129712718	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_129502639)_(129514615_?)del	LAMA2	Likely pathogenic	6	129823784	129835760	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)	LAMA2	Pathogenic	6	129468112	129468112	C	G	criteria provided, single submitter	ClinGen:CA146884965
single nucleotide variant	NM_000426.4(LAMA2):c.1467+1G>T	LAMA2	Pathogenic	6	129499012	129499012	G	T	criteria provided, single submitter	ClinGen:CA365607744
Deletion	NM_000426.4(LAMA2):c.5071+3104del	LAMA2	Pathogenic	6	129707482	129707482	TC	T	criteria provided, single submitter	ClinGen:CA658657614