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_182961.4(SYNE1):c.310-489G>T	SYNE1	Likely pathogenic	6	152832727	152832727	C	A	criteria provided, single submitter	-
Deletion	NM_182961.4(SYNE1):c.8885del (p.Val2962fs)	SYNE1	Pathogenic	6	152702265	152702265	CA	C	criteria provided, single submitter	-
Duplication	NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs)	SYNE1	Pathogenic	6	152651958	152651959	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter)	SYNE1	Pathogenic	6	152651608	152651608	C	A	criteria provided, single submitter	-
Deletion	NM_182961.2(SYNE1):c.24979del	SYNE1	Pathogenic	6	152464898	152464898	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)	SYNE1	Pathogenic	6	152629755	152629755	G	A	criteria provided, single submitter	-
Deletion	NM_182961.4(SYNE1):c.14223del (p.Ser4742fs)	SYNE1	Likely pathogenic	6	152651597	152651597	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.15347T>A (p.Leu5116Ter)	SYNE1	Likely pathogenic	6	152647184	152647184	A	T	criteria provided, single submitter	-
Duplication	NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)	SYNE1	Pathogenic/Likely pathogenic	6	152560728	152560729	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1	Pathogenic	6	152443551	153748051	na	na	criteria provided, single submitter	-