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
single nucleotide variant	NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)	HGSNAT	Pathogenic	8	43016605	43016605	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586138
single nucleotide variant	NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)	PROM1	Pathogenic	4	16010716	16010716	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586321,OMIM:604365.0004
single nucleotide variant	NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	CRB1	Pathogenic/Likely pathogenic	1	197298065	197298065	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1311659,UniProtKB:P82279#VAR_022943
single nucleotide variant	NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)	USH2A	Pathogenic	1	216246252	216246252	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1395342
Deletion	NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)	USH2A	Pathogenic	1	216380743	216380744	TTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588281
single nucleotide variant	NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)	USH2A	Pathogenic/Likely pathogenic	1	216420432	216420432	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588282
single nucleotide variant	NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	POMGNT1	Pathogenic	1	46660532	46660532	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA833669
single nucleotide variant	NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	ABCA4	Pathogenic	1	94528164	94528164	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588302
single nucleotide variant	NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94543271	94543271	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588303
Deletion	NM_000350.3(ABCA4):c.664del (p.Ala222fs)	ABCA4	Pathogenic	1	94564454	94564454	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227424