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.6238G>C (p.Gly2080Arg)	COL6A3	Pathogenic/Likely pathogenic	2	238268775	238268775	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351216634
Duplication	NM_000426.4(LAMA2):c.3752dup (p.Lys1252fs)	LAMA2	Pathogenic	6	129636918	129636919	T	TG	criteria provided, single submitter	ClinGen:CA658796826
single nucleotide variant	NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)	COL6A1	Likely pathogenic	21	47409017	47409017	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA410521483
single nucleotide variant	NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)	COL6A2	Pathogenic	21	47536292	47536292	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA410525581
single nucleotide variant	NM_001849.4(COL6A2):c.955-2A>G	COL6A2	Pathogenic	21	47536682	47536682	A	G	criteria provided, single submitter	ClinGen:CA410527125
Duplication	NM_004006.3(DMD):c.7085_7088dup (p.Asp2364fs)	DMD	Likely pathogenic	X	31893314	31893315	A	AAATG	criteria provided, single submitter	ClinGen:CA658799672
Deletion	NM_182961.4(SYNE1):c.1369del (p.Asp457fs)	SYNE1	Pathogenic	6	152793530	152793530	TC	T	criteria provided, single submitter	ClinGen:CA658796853
single nucleotide variant	NM_013403.3(STRN4):c.282+78C>T	FKRP	Pathogenic	19	47249328	47249328	G	A	criteria provided, single submitter	ClinGen:CA658799254
single nucleotide variant	NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)	LMNA	Likely pathogenic	1	156084768	156084768	C	T	criteria provided, single submitter	ClinGen:CA342807133
single nucleotide variant	NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)	SYNE1	Pathogenic	6	152646309	152646309	C	T	criteria provided, single submitter	ClinGen:CA366091091