網膜色素変性症

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
Deletion	NM_017739.4(POMGNT1):c.875del (p.Asp292fs)	POMGNT1	Likely pathogenic	1	46659950	46659950	GT	G	criteria provided, single submitter	ClinGen:CA16040753
Deletion	NM_017739.4(POMGNT1):c.478del (p.Met160fs)	POMGNT1	Pathogenic/Likely pathogenic	1	46661539	46661539	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040754
single nucleotide variant	NM_017739.4(POMGNT1):c.354+1G>A	POMGNT1	Likely pathogenic	1	46662402	46662402	C	T	criteria provided, single submitter	ClinGen:CA16040755
single nucleotide variant	NM_017739.4(POMGNT1):c.236-1G>T	POMGNT1	Likely pathogenic	1	46662522	46662522	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040756
Insertion	NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)	POMGNT1	Pathogenic/Likely pathogenic	1	46662691	46662692	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040757
single nucleotide variant	NM_017739.4(POMGNT1):c.121-2A>G	POMGNT1	Likely pathogenic	1	46662758	46662758	T	C	criteria provided, single submitter	ClinGen:CA16040758
Indel	NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer)	POMGNT1	Likely pathogenic	1	46663431	46663434	CCAG	TCAC	criteria provided, single submitter	ClinGen:CA16040759
single nucleotide variant	NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)	CLRN1	Pathogenic	3	150645803	150645803	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2666003
Duplication	NM_174878.3(CLRN1):c.433+2dup	CLRN1	Likely pathogenic	3	150659366	150659367	T	TA	criteria provided, single submitter	ClinGen:CA16040902
single nucleotide variant	NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)	CLRN1	Pathogenic/Likely pathogenic	3	150690483	150690483	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040903