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_024301.5(FKRP):c.77G>A (p.Trp26Ter)	FKRP	Pathogenic/Likely pathogenic	19	47258784	47258784	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024301.5(FKRP):c.796del (p.Ala266fs)	FKRP	Pathogenic/Likely pathogenic	19	47259501	47259501	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)	FKRP	Pathogenic/Likely pathogenic	19	47259635	47259635	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_024301.5(FKRP):c.170_186dup (p.Val63fs)	FKRP	Likely pathogenic	19	47258874	47258875	T	TCGAGGCATTTGACAACG	criteria provided, single submitter	-
single nucleotide variant	NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)	FKRP	Likely pathogenic	19	47258921	47258921	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	FKRP	Pathogenic/Likely pathogenic	19	47259485	47259485	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)	FKRP	Pathogenic/Likely pathogenic	19	47259734	47259734	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024301.5(FKRP):c.1119del (p.Asn374fs)	FKRP	Likely pathogenic	19	47259826	47259826	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)	FKRP	Pathogenic/Likely pathogenic	19	47260091	47260091	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	FKRP	Pathogenic/Likely pathogenic	19	47258973	47258973	C	T	criteria provided, multiple submitters, no conflicts	-