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_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	USH2A	Pathogenic/Likely pathogenic	1	216251674	216251674	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.5158del (p.Phe1719_Leu1720insTer)	USH2A	Pathogenic	1	216258049	216258049	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.3788G>A (p.Trp1263Ter)	USH2A	Pathogenic	1	216372992	216372992	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.3384_3417del (p.Asn1129fs)	USH2A	Pathogenic	1	216373363	216373396	TGACAGCTACACTCCTTGTTGAACCATGCACATTG	T	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.3224_3225dup (p.Pro1076fs)	USH2A	Pathogenic	1	216380705	216380706	G	GAC	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.3004del (p.Cys1002fs)	USH2A	Pathogenic	1	216390882	216390882	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.1228G>T (p.Glu410Ter)	USH2A	Pathogenic	1	216497610	216497610	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46657847	46657847	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs)	POMGNT1	Pathogenic	1	46659260	46659261	CTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46661506	46661506	G	A	criteria provided, multiple submitters, no conflicts	-