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.10684G>T (p.Glu3562Ter)	USH2A	Pathogenic	1	215955440	215955440	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1393958
single nucleotide variant	NM_000350.3(ABCA4):c.4637T>G (p.Leu1546Ter)	ABCA4	Pathogenic	1	94488972	94488972	A	C	criteria provided, single submitter	ClinGen:CA341284271
single nucleotide variant	NM_000350.3(ABCA4):c.37A>G (p.Lys13Glu)	ABCA4	Likely pathogenic	1	94586565	94586565	T	C	criteria provided, single submitter	ClinGen:CA341288694
single nucleotide variant	NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn)	PRPH2	Likely pathogenic	6	42672344	42672344	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA364135864
single nucleotide variant	NM_004183.4(BEST1):c.44G>A (p.Gly15Asp)	BEST1	Pathogenic	11	61719322	61719322	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380831276
single nucleotide variant	NM_004183.4(BEST1):c.671T>A (p.Leu224Gln)	BEST1	Likely pathogenic	11	61724893	61724893	T	A	criteria provided, single submitter	ClinGen:CA380838625
Deletion	NM_003611.3(OFD1):c.1221+1_1221+2del	OFD1	Pathogenic	X	13773362	13773363	GGT	G	criteria provided, single submitter	ClinGen:CA645369747
Deletion	NM_000350.3(ABCA4):c.5867_5870del (p.Asp1956fs)	ABCA4	Pathogenic	1	94473819	94473822	CCTGT	C	criteria provided, single submitter	ClinGen:CA645372342
single nucleotide variant	NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)	ABCA4	Pathogenic/Likely pathogenic	1	94480232	94480232	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341281507
single nucleotide variant	NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln)	ABCA4	Likely pathogenic	1	94485206	94485206	T	G	criteria provided, single submitter	ClinGen:CA957374