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_001077365.2(POMT1):c.841C>T (p.Gln281Ter)	POMT1	Pathogenic	9	134385788	134385788	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278042,OMIM:607423.0002
single nucleotide variant	NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	POMT1	Pathogenic/Likely pathogenic	9	134385188	134385188	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA203493,UniProtKB:Q9Y6A1#VAR_022661,OMIM:607423.0005
single nucleotide variant	NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	POMT1	Pathogenic	9	134381571	134381571	G	A	criteria provided, single submitter	ClinGen:CA116108,UniProtKB:Q9Y6A1#VAR_065027,OMIM:607423.0006,OMIM:607423.0010
single nucleotide variant	NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)	POMT1	Pathogenic	9	134394332	134394332	C	T	criteria provided, multiple submitters, no conflicts	OMIM:607423.0011,OMIM:607423.0008,ClinGen:CA116110,LOVD 3:POMT1_000018
single nucleotide variant	NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	POMT1	Pathogenic/Likely pathogenic	9	134397547	134397547	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116114,UniProtKB:Q9Y6A1#VAR_065036,OMIM:607423.0013
single nucleotide variant	NM_001077365.2(POMT1):c.1175+1G>A	POMT1	Pathogenic	9	134388719	134388719	G	A	criteria provided, single submitter	OMIM:607423.0014
Duplication	NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	POMT1	Pathogenic	9	134398412	134398413	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA222996,OMIM:607423.0018
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_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.1324C>T (p.Arg442Cys)	POMGNT1	Pathogenic/Likely pathogenic	1	46658069	46658069	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116547,UniProtKB:Q8WZA1#VAR_023106,OMIM:606822.0007