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.1786-2A>G	POMGNT1	Likely pathogenic	1	46655241	46655241	T	C	criteria provided, single submitter	ClinGen:CA16040742
Deletion	NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs)	POMGNT1	Likely pathogenic	1	46655566	46655570	CTCCAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA833254
Deletion	NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs)	POMGNT1	Likely pathogenic	1	46655613	46655616	GGAAA	G	criteria provided, single submitter	ClinGen:CA16040743
Deletion	NM_017739.4(POMGNT1):c.1562del (p.Lys521fs)	POMGNT1	Likely pathogenic	1	46656434	46656434	CT	C	criteria provided, single submitter	ClinGen:CA16040745
Deletion	NM_017739.4(POMGNT1):c.1538_1539+2del	POMGNT1	Likely pathogenic	1	46657768	46657771	CACGT	C	criteria provided, single submitter	ClinGen:CA16040746
Deletion	NM_017739.4(POMGNT1):c.1284+2_1284+19del	POMGNT1	Likely pathogenic	1	46658171	46658188	CCCTGGTCATTCCAGCCTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040747
Deletion	NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs)	POMGNT1	Likely pathogenic	1	46658885	46658885	AG	A	criteria provided, single submitter	ClinGen:CA16040748
Deletion	NM_017739.4(POMGNT1):c.987del (p.Pro330fs)	POMGNT1	Likely pathogenic	1	46659275	46659275	GA	G	criteria provided, single submitter	ClinGen:CA16040750
single nucleotide variant	NM_017739.4(POMGNT1):c.880-2A>G	POMGNT1	Likely pathogenic	1	46659599	46659599	T	C	criteria provided, single submitter	ClinGen:CA16040751
single nucleotide variant	NM_017739.4(POMGNT1):c.879+2T>C	POMGNT1	Likely pathogenic	1	46659944	46659944	A	G	criteria provided, single submitter	ClinGen:CA16040752