筋原線維性ミオパチー

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_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)	DNAJB6	Pathogenic	7	157160110	157160110	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA260014,UniProtKB:O75190#VAR_067834,OMIM:611332.0003
single nucleotide variant	NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)	DNAJB6	Pathogenic	7	157160110	157160110	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260015,UniProtKB:O75190#VAR_067834,OMIM:611332.0004
single nucleotide variant	NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)	DNAJB6	Pathogenic	7	157160096	157160096	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260016,UniProtKB:O75190#VAR_067833,OMIM:611332.0005
Deletion	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN	Pathogenic	2	179391826	179391826	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA309464
Deletion	NM_001289808.2(CRYAB):c.343del (p.Ser115fs)	CRYAB	Pathogenic/Likely pathogenic	11	111779673	111779673	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA308250
single nucleotide variant	NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro)	BAG3	Likely pathogenic	10	121436451	121436451	T	C	criteria provided, single submitter	ClinGen:CA261131,UniProtKB:O95817#VAR_066786,OMIM:603883.0008
single nucleotide variant	NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	DES	Pathogenic/Likely pathogenic	2	220288509	220288509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017
single nucleotide variant	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	CRYAB	Likely pathogenic	11	111782283	111782283	G	A	criteria provided, single submitter	ClinGen:CA130927,OMIM:123590.0010
single nucleotide variant	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES	Pathogenic	2	220283222	220283222	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261520,UniProtKB:P17661#VAR_067208,OMIM:125660.0019
single nucleotide variant	NM_001927.4(DES):c.735+1G>A	DES	Pathogenic/Likely pathogenic	2	220285069	220285069	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261522