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_017739.4(POMGNT1):c.636C>T (p.Phe212=)	POMGNT1	Pathogenic	1	46660532	46660532	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA833669
single nucleotide variant	NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)	LAMA2	Pathogenic	6	129714329	129714329	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588407
single nucleotide variant	NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129722399	129722399	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993894
Deletion	NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)	LAMA2	Pathogenic	6	129774190	129774190	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588408
Deletion	NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)	LAMA2	Pathogenic	6	129813134	129813134	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588409
Deletion	NM_004006.3(DMD):c.10150del (p.Arg3384fs)	DMD	Pathogenic	X	31196859	31196859	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588764
Deletion	NM_004006.3(DMD):c.9503del (p.Leu3168fs)	DMD	Pathogenic	X	31227675	31227675	CA	C	criteria provided, single submitter	ClinGen:CA10588765
Deletion	NM_004006.3(DMD):c.9471_9474del (p.Ile3157fs)	DMD	Pathogenic	X	31227704	31227707	CATAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588766,LOVD 3:DMD_000065,OMIM:300377.0065
single nucleotide variant	NM_004006.3(DMD):c.9148C>T (p.Gln3050Ter)	DMD	Pathogenic	X	31366688	31366688	G	A	criteria provided, single submitter	ClinGen:CA10588767
single nucleotide variant	NM_004006.3(DMD):c.8218-2A>G	DMD	Pathogenic	X	31525572	31525572	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588768