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_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43	Pathogenic	3	14183165	14183165	C	T	criteria provided, multiple submitters, no conflicts	OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438
single nucleotide variant	NM_182961.4(SYNE1):c.15918-12A>G	SYNE1	Pathogenic	6	152643033	152643033	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252215,OMIM:608441.0002
single nucleotide variant	NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)	SYNE1	Pathogenic	6	152702455	152702455	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252216,OMIM:608441.0003
single nucleotide variant	NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter)	SYNE1	Pathogenic	6	152522973	152522973	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252219,OMIM:608441.0005
single nucleotide variant	NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	FKTN	Pathogenic	9	108358912	108358912	C	T	criteria provided, multiple submitters, no conflicts	OMIM:607440.0002,ClinGen:CA116054
Deletion	NM_001079802.2(FKTN):c.187_188del (p.Met63fs)	FKTN	Pathogenic	9	108363446	108363447	TTA	T	criteria provided, single submitter	ClinGen:CA116059,OMIM:607440.0003
Duplication	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN	Pathogenic	9	108382330	108382331	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA116060,OMIM:607440.0005
single nucleotide variant	NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)	FKTN	Pathogenic	9	108366653	108366653	T	C	criteria provided, single submitter	ClinGen:CA116061,UniProtKB:O75072#VAR_065052,OMIM:607440.0015
Duplication	NM_001079802.2(FKTN):c.454dup (p.Ser152fs)	FKTN	Pathogenic	9	108366579	108366580	C	CT	criteria provided, single submitter	ClinGen:CA116065,OMIM:607440.0006
single nucleotide variant	NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)	FKTN	Pathogenic	9	108363606	108363606	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116066,OMIM:607440.0007