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
Deletion	NC_000006.12:g.(?_128883226)_(129516367_?)del	LAMA2	Pathogenic	6	129204371	129837512	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_129516170)_(129516367_?)del	LAMA2	Pathogenic	6	129837315	129837512	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1	Pathogenic	6	152443551	153748051	na	na	criteria provided, single submitter	-
Duplication	NM_000426.4(LAMA2):c.7207_7208dup (p.Asp2403fs)	LAMA2	Pathogenic	6	129786340	129786341	C	CGA	criteria provided, single submitter	ClinGen:CA658796829
Deletion	NC_000006.12:g.(?_129349278)_(129403979_?)del	LAMA2	Pathogenic	6	129670423	129725124	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.1027+1G>T	LAMA2	Pathogenic/Likely pathogenic	6	129470242	129470242	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA365606742
single nucleotide variant	NM_000426.4(LAMA2):c.3736-2A>T	LAMA2	Pathogenic/Likely pathogenic	6	129636905	129636905	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993353
single nucleotide variant	NM_001077365.2(POMT1):c.605+1G>C	POMT1	Pathogenic	9	134385196	134385196	G	C	criteria provided, single submitter	ClinGen:CA375307262
single nucleotide variant	NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)	FKTN	Likely pathogenic	9	108380248	108380248	C	G	criteria provided, single submitter	ClinGen:CA374377395
Deletion	NM_001077365.2(POMT1):c.699+62del	POMT1	Pathogenic	9	134385445	134385445	CA	C	criteria provided, single submitter	ClinGen:CA590946593