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_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	FAM161A	Pathogenic	2	62067454	62067454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251355,OMIM:613596.0001
single nucleotide variant	NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	FAM161A	Pathogenic	2	62066830	62066830	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA233978,OMIM:613596.0002
Deletion	NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)	FAM161A	Pathogenic	2	62066783	62066784	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA251357,OMIM:613596.0003
single nucleotide variant	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A	Pathogenic	2	62066572	62066572	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA233972,OMIM:613596.0004
single nucleotide variant	NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter)	FAM161A	Pathogenic	2	62063210	62063210	G	A	criteria provided, single submitter	ClinGen:CA251358,OMIM:613596.0005
Deletion	NM_001029883.3(PCARE):c.947del (p.Asn316fs)	PCARE	Pathogenic	2	29296181	29296181	AT	A	criteria provided, single submitter	ClinGen:CA251387,OMIM:613425.0003
Deletion	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	PCARE	Pathogenic	2	29294360	29294372	GTCCAGGGCTGGCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA251390,OMIM:613425.0005
single nucleotide variant	NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)	EYS	Pathogenic	6	65146137	65146137	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251491,OMIM:612424.0004
single nucleotide variant	NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	EYS	Pathogenic/Likely pathogenic	6	64430522	64430522	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251493,OMIM:612424.0005,ClinVar:560452
single nucleotide variant	NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn)	KLHL7	Pathogenic/Likely pathogenic	7	23180394	23180394	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251665,UniProtKB:Q8IXQ5#VAR_060672,OMIM:611119.0001