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
Duplication	NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	FKTN	Pathogenic/Likely pathogenic	9	108363587	108363588	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5170370
single nucleotide variant	NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter)	DMD	Pathogenic	X	32382764	32382764	G	A	criteria provided, single submitter	ClinGen:CA10604112
Deletion	NM_004006.3(DMD):c.2603del (p.Ser868fs)	DMD	Pathogenic/Likely pathogenic	X	32509413	32509413	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604113
single nucleotide variant	NM_004006.3(DMD):c.2512C>T (p.Gln838Ter)	DMD	Pathogenic	X	32509504	32509504	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604115
single nucleotide variant	NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	FKRP	Pathogenic	19	47259252	47259252	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA9532164,UniProtKB:Q9H9S5#VAR_065058
Duplication	NM_004006.3(DMD):c.8105_8111dup (p.Trp2704fs)	DMD	Pathogenic	X	31645895	31645896	C	CCAGGCAA	criteria provided, single submitter	ClinGen:CA10604138
Duplication	NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs)	POMT2	Pathogenic	14	77757715	77757716	G	GGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604183
single nucleotide variant	NM_004369.4(COL6A3):c.5010T>A (p.Tyr1670Ter)	COL6A3	Pathogenic	2	238275820	238275820	A	T	criteria provided, single submitter	ClinGen:CA10604186
single nucleotide variant	NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)	COL6A1	Pathogenic	21	47410706	47410706	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604208,UniProtKB:P12109#VAR_058221
single nucleotide variant	NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter)	SYNE1	Pathogenic	6	152540248	152540248	G	A	criteria provided, single submitter	ClinGen:CA10604216