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_015662.3(IFT172):c.1036C>T (p.Arg346Ter)	IFT172	Pathogenic/Likely pathogenic	2	27700993	27700993	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1580787
single nucleotide variant	NM_015662.3(IFT172):c.1525-1G>A	IFT172	Pathogenic/Likely pathogenic	2	27693963	27693963	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199772,OMIM:607386.0014
Deletion	NM_015662.3(IFT172):c.2158del (p.Arg720fs)	IFT172	Pathogenic/Likely pathogenic	2	27684661	27684661	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA149734,OMIM:607386.0011
single nucleotide variant	NM_015662.3(IFT172):c.2716C>T (p.Gln906Ter)	IFT172	Pathogenic	2	27682316	27682316	G	A	criteria provided, single submitter	ClinGen:CA149726,OMIM:607386.0005
Duplication	NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)	IFT172	Pathogenic/Likely pathogenic	2	27682266	27682267	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA1580199
single nucleotide variant	NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter)	IFT172	Pathogenic	2	27676295	27676295	G	A	criteria provided, single submitter	ClinGen:CA149735,OMIM:607386.0012
Duplication	NM_015662.3(IFT172):c.4290dup (p.Ile1431fs)	IFT172	Likely pathogenic	2	27672181	27672182	T	TG	criteria provided, single submitter	ClinGen:CA16617526
single nucleotide variant	NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	IFT172	Pathogenic/Likely pathogenic	2	27670411	27670411	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA149724,UniProtKB:Q9UG01#VAR_070960,OMIM:607386.0003
single nucleotide variant	NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)	IFT172	Pathogenic	2	27667370	27667370	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA149722,UniProtKB:Q9UG01#VAR_070961,OMIM:607386.0001
single nucleotide variant	NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn)	AGBL5	Likely pathogenic	2	27278096	27278096	G	A	criteria provided, single submitter	ClinGen:CA10584033,UniProtKB:Q8NDL9#VAR_077019,OMIM:615900.0001