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.6212G>A (p.Gly2071Asp)	COL6A3	Likely pathogenic	2	238268801	238268801	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605883
Indel	NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs)	LMNA	Pathogenic	1	156084774	156084775	CG	T	criteria provided, single submitter	ClinGen:CA10605892
single nucleotide variant	NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	LAMA2	Pathogenic	6	129712680	129712680	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993781
single nucleotide variant	NM_001848.3(COL6A1):c.1002+1G>A	COL6A1	Pathogenic	21	47410337	47410337	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605928
Duplication	NM_004006.3(DMD):c.5360dup (p.Asn1787fs)	DMD	Pathogenic	X	32366610	32366611	G	GT	criteria provided, single submitter	ClinGen:CA10605960
single nucleotide variant	NM_004006.3(DMD):c.10572T>A (p.Tyr3524Ter)	DMD	Pathogenic	X	31165617	31165617	A	T	criteria provided, single submitter	ClinGen:CA10605988
single nucleotide variant	NM_004006.3(DMD):c.186+2T>A	DMD	Pathogenic	X	32867843	32867843	A	T	criteria provided, single submitter	ClinGen:CA10605993
single nucleotide variant	NM_004006.3(DMD):c.2861G>A (p.Trp954Ter)	DMD	Pathogenic	X	32490369	32490369	C	T	criteria provided, single submitter	ClinGen:CA10606101
single nucleotide variant	NM_004369.4(COL6A3):c.6309+1G>T	COL6A3	Pathogenic/Likely pathogenic	2	238268004	238268004	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606112
Deletion	NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs)	FKRP	Pathogenic	19	47259962	47259963	GCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606163