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_206933.4(USH2A):c.6159del (p.Glu2054fs)	USH2A	Pathogenic/Likely pathogenic	1	216221880	216221880	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1395222
single nucleotide variant	NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)	FAM161A	Pathogenic	2	62067136	62067136	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1679235
single nucleotide variant	NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)	ABCA4	Pathogenic	1	94522194	94522194	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA26844053
single nucleotide variant	NM_206933.4(USH2A):c.13695T>G (p.Tyr4565Ter)	USH2A	Pathogenic	1	215847558	215847558	A	C	criteria provided, single submitter	ClinGen:CA344843831
single nucleotide variant	NM_001242957.3(MAK):c.156+2T>C	MAK	Likely pathogenic	6	10819117	10819117	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA362721537
Deletion	NM_001142800.2(EYS):c.7422_7423del (p.Gly2474_Asp2475insTer)	EYS	Pathogenic	6	64499106	64499107	TCG	T	criteria provided, single submitter	ClinGen:CA658796780
Deletion	NM_006269.2(RP1):c.5017del (p.Tyr1673fs)	RP1	Pathogenic/Likely pathogenic	8	55541457	55541457	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA4751987
Indel	NM_006269.2(RP1):c.2745delinsAA (p.Tyr915Ter)	RP1	Pathogenic	8	55539187	55539187	T	AA	criteria provided, single submitter	ClinGen:CA658797096
Duplication	NM_017739.4(POMGNT1):c.477dup (p.Met160fs)	POMGNT1	Pathogenic	1	46661539	46661540	T	TG	criteria provided, single submitter	ClinGen:CA658795460
Insertion	NM_001029883.3(PCARE):c.2920_2921insC (p.Glu974fs)	PCARE	Pathogenic	2	29294207	29294208	T	TG	criteria provided, single submitter	ClinGen:CA658795700