網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_006269.2(RP1):c.4555del (p.Arg1519fs)	RP1	Pathogenic	8	55540992	55540992	GA	G	criteria provided, single submitter	ClinGen:CA275258
Duplication	NM_006269.2(RP1):c.2700dup (p.Pro901fs)	RP1	Pathogenic/Likely pathogenic	8	55539136	55539137	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275259
single nucleotide variant	NM_206933.4(USH2A):c.7595-3C>G	USH2A	Pathogenic/Likely pathogenic	1	216062399	216062399	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275270
single nucleotide variant	NM_206933.4(USH2A):c.8682-9A>G	USH2A	Pathogenic	1	216040521	216040521	T	C	reviewed by expert panel	ClinGen:CA275277
Duplication	NM_152443.3(RDH12):c.210dup (p.Arg71fs)	RDH12	Pathogenic/Likely pathogenic	14	68191837	68191838	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA246264
single nucleotide variant	NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A	Pathogenic/Likely pathogenic	1	215963510	215963510	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275315,UniProtKB:O75445#VAR_068356
single nucleotide variant	NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A	Pathogenic/Likely pathogenic	1	215847937	215847937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275369,UniProtKB:O75445#VAR_054614
Indel	NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)	RPGR	Pathogenic/Likely pathogenic	X	38169990	38170004	TTCTCAGGTTCTCCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275388
single nucleotide variant	NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)	ABCA4	Pathogenic	1	94546253	94546253	G	A	criteria provided, single submitter	ClinGen:CA203573
Deletion	NM_003322.6(TULP1):c.725_728del (p.Pro242fs)	TULP1	Pathogenic	6	35477080	35477083	TTTGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275433