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
Indel	NM_000426.4(LAMA2):c.7156-5_7157delinsT	LAMA2	Pathogenic	6	129786285	129786291	AATAGAG	T	criteria provided, single submitter	ClinGen:CA658657619
Insertion	NM_000426.4(LAMA2):c.7710_7711insG (p.Pro2571fs)	LAMA2	Pathogenic	6	129802545	129802546	A	AG	criteria provided, single submitter	ClinGen:CA658657620
single nucleotide variant	NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)	LAMA2	Pathogenic/Likely pathogenic	6	129204392	129204392	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA147234456
Deletion	NM_000426.4(LAMA2):c.1301del (p.Arg434fs)	LAMA2	Pathogenic	6	129486815	129486815	CG	C	criteria provided, single submitter	ClinGen:CA658657613
Deletion	NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	LAMA2	Pathogenic/Likely pathogenic	6	129609007	129609007	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993005
single nucleotide variant	NM_000426.4(LAMA2):c.5866-2A>G	LAMA2	Pathogenic	6	129748895	129748895	A	G	criteria provided, single submitter	ClinGen:CA365623861
Deletion	NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)	LAMA2	Pathogenic/Likely pathogenic	6	129802493	129802493	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA451933934
Deletion	NM_000426.4(LAMA2):c.8180_8181del (p.Ile2727fs)	LAMA2	Pathogenic	6	129813563	129813564	AAT	A	criteria provided, single submitter	ClinGen:CA658657622
single nucleotide variant	NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)	POMT1	Pathogenic	9	134393920	134393920	T	G	criteria provided, single submitter	ClinGen:CA375311567
single nucleotide variant	NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)	POMT1	Pathogenic	9	134394249	134394249	G	C	criteria provided, single submitter	ClinGen:CA5293687