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_001927.4(DES):c.130G>A (p.Gly44Ser)	DES	Likely pathogenic	2	220283314	220283314	G	A	criteria provided, single submitter	ClinGen:CA16617477
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.35C>T (p.Ser12Phe)	DES	Pathogenic/Likely pathogenic	2	220283219	220283219	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217069
single nucleotide variant	NM_001927.4(DES):c.1A>G (p.Met1Val)	DES	Likely pathogenic	2	220283185	220283185	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604392
single nucleotide variant	NM_001267550.2(TTN):c.634C>T (p.Gln212Ter)	TTN	Likely pathogenic	2	179664587	179664587	G	A	criteria provided, single submitter	ClinGen:CA349524918
Deletion	NM_001267550.2(TTN):c.1558del (p.Thr520fs)	TTN	Likely pathogenic	2	179656903	179656903	GT	G	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 2q31.2(chr2:179403525-179655493)	TTN	Likely pathogenic	2	179403525	179655493	na	na	criteria provided, single submitter	-
Indel	NM_001267550.2(TTN):c.1758_1763delinsT (p.Glu586fs)	TTN	Likely pathogenic	2	179655472	179655477	GTAGTT	A	criteria provided, single submitter	ClinGen:CA309396
single nucleotide variant	NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)	TTN	Pathogenic	2	179655464	179655464	G	A	criteria provided, single submitter	ClinGen:CA349507909
single nucleotide variant	NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter)	TTN	Likely pathogenic	2	179650856	179650856	T	A	criteria provided, single submitter	ClinGen:CA349502198