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_000426.4(LAMA2):c.4717+1G>T	LAMA2	Likely pathogenic	6	129674503	129674503	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA365618953
single nucleotide variant	NM_004006.3(DMD):c.9958C>A (p.Pro3320Thr)	DMD	Likely pathogenic	X	31200871	31200871	G	T	criteria provided, single submitter	ClinGen:CA412653296
Deletion	NM_004006.3(DMD):c.5984del (p.Tyr1995fs)	DMD	Pathogenic	X	32328332	32328332	AT	A	criteria provided, single submitter	ClinGen:CA645369757
single nucleotide variant	NM_020451.3(SELENON):c.855C>G (p.Tyr285Ter)	SELENON	Likely pathogenic	1	26135624	26135624	C	G	criteria provided, single submitter	ClinGen:CA339114209
Duplication	NM_020451.3(SELENON):c.1289dup (p.Tyr430Ter)	SELENON	Pathogenic	1	26139184	26139185	T	TA	criteria provided, single submitter	ClinGen:CA645372407
Deletion	NM_020451.3(SELENON):c.1332_1334del (p.Asn444del)	SELENON	Pathogenic/Likely pathogenic	1	26139226	26139228	GAAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372408
single nucleotide variant	NM_004393.6(DAG1):c.891G>A (p.Trp297Ter)	DAG1	Likely pathogenic	3	49568835	49568835	G	A	criteria provided, single submitter	ClinGen:CA352794308
Duplication	NM_000426.4(LAMA2):c.6062dup (p.Leu2023fs)	LAMA2	Pathogenic/Likely pathogenic	6	129759881	129759882	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372433
single nucleotide variant	NM_000426.4(LAMA2):c.6605G>T (p.Gly2202Val)	LAMA2	Likely pathogenic	6	129775331	129775331	G	T	criteria provided, single submitter	ClinGen:CA365616947
single nucleotide variant	NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)	LAMA2	Pathogenic	6	129785516	129785516	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3994436