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_017739.4(POMGNT1):c.652+1G>A	POMGNT1	Likely pathogenic	1	46660515	46660515	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116563,OMIM:606822.0015
single nucleotide variant	NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	POMGNT1	Likely pathogenic	1	46656145	46656145	C	T	criteria provided, single submitter	ClinGen:CA116540,UniProtKB:Q8WZA1#VAR_023109,OMIM:606822.0003
single nucleotide variant	NM_017739.4(POMGNT1):c.1413+1G>T	POMGNT1	Likely pathogenic	1	46657979	46657979	C	A	criteria provided, single submitter	ClinGen:CA116538,OMIM:606822.0001
single nucleotide variant	NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	POMT2	Likely pathogenic	14	77762566	77762566	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA130176,UniProtKB:Q9UKY4#VAR_065040,OMIM:607439.0012,OMIM:607439.0014
single nucleotide variant	NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)	POMT2	Likely pathogenic	14	77743730	77743730	A	G	criteria provided, single submitter	ClinGen:CA116100,UniProtKB:Q9UKY4#VAR_065048,OMIM:607439.0006