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_001079802.2(FKTN):c.1173-2A>G	FKTN	Likely pathogenic	9	108397330	108397330	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.106-2A>G	FKTN	Likely pathogenic	9	108358877	108358877	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.370-2A>G	FKTN	Likely pathogenic	9	108366494	108366494	A	G	criteria provided, single submitter	-
Deletion	NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)	FKTN	Likely pathogenic	9	108382299	108382300	CAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)	FKTN	Pathogenic/Likely pathogenic	9	108337355	108337355	CG	C	criteria provided, multiple submitters, no conflicts	OMIM:607440.0019
single nucleotide variant	NM_001079802.2(FKTN):c.1173-1G>A	FKTN	Likely pathogenic	9	108397331	108397331	G	A	criteria provided, single submitter	-
Indel	NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs)	FKRP	Likely pathogenic	19	47258974	47258974	G	AT	criteria provided, single submitter	-
single nucleotide variant	NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)	FKRP	Pathogenic/Likely pathogenic	19	47259233	47259233	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_024301.5(FKRP):c.566_570dup (p.Cys191fs)	FKRP	Likely pathogenic	19	47259269	47259270	G	GCGCCC	criteria provided, single submitter	-
Deletion	NM_024301.5(FKRP):c.656del (p.Gly219fs)	FKRP	Pathogenic/Likely pathogenic	19	47259361	47259361	TG	T	criteria provided, multiple submitters, no conflicts	-