筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	FKTN	Pathogenic	9	108380249	108380249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116072,UniProtKB:O75072#VAR_039288,OMIM:607440.0009
single nucleotide variant	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	FKTN	Pathogenic	9	108380248	108380248	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116088,OMIM:607440.0018
single nucleotide variant	NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	POMT2	Pathogenic	14	77745192	77745192	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252628,OMIM:607439.0001
single nucleotide variant	NM_013382.7(POMT2):c.1006+1G>A	POMT2	Pathogenic	14	77765031	77765031	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252631,OMIM:607439.0002
single nucleotide variant	NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	POMT2	Pathogenic/Likely pathogenic	14	77745107	77745107	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA116093,UniProtKB:Q9UKY4#VAR_065045,OMIM:607439.0004
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
single nucleotide variant	NM_013382.7(POMT2):c.551C>T (p.Thr184Met)	POMT2	Pathogenic/Likely pathogenic	14	77769283	77769283	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223089,UniProtKB:Q9UKY4#VAR_065037,OMIM:607439.0010
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.1333-14G>A	POMT2	Pathogenic	14	77751989	77751989	C	T	criteria provided, single submitter	OMIM:607439.0018
single nucleotide variant	NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)	POMT1	Pathogenic	9	134381604	134381604	G	A	criteria provided, single submitter	ClinGen:CA278040,UniProtKB:Q9Y6A1#VAR_015734,OMIM:607423.0001