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_001031710.3(KLHL7):c.458C>T (p.Ala153Val)	KLHL7	Pathogenic	7	23180403	23180403	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221427,UniProtKB:Q8IXQ5#VAR_060674,OMIM:611119.0002
single nucleotide variant	NM_152419.3(HGSNAT):c.493+1G>A	HGSNAT	Pathogenic	8	43014188	43014188	G	A	criteria provided, multiple submitters, no conflicts	OMIM:610453.0001,ClinGen:CA114861
single nucleotide variant	NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	HGSNAT	Pathogenic/Likely pathogenic	8	43028883	43028883	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114863,OMIM:610453.0003
single nucleotide variant	NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	HGSNAT	Likely pathogenic	8	43048967	43048967	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114867,OMIM:610453.0005
Duplication	NM_152419.3(HGSNAT):c.525dup (p.Val176fs)	HGSNAT	Pathogenic	8	43016611	43016612	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA114869,OMIM:610453.0006
single nucleotide variant	NM_152419.3(HGSNAT):c.372-2A>G	HGSNAT	Pathogenic	8	43014064	43014064	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA114870,OMIM:610453.0007
single nucleotide variant	NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	HGSNAT	Pathogenic/Likely pathogenic	8	43037305	43037305	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114871,OMIM:610453.0008
single nucleotide variant	NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)	HGSNAT	Pathogenic	8	43052825	43052825	C	T	criteria provided, single submitter	ClinGen:CA114873,OMIM:610453.0009
single nucleotide variant	NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)	SPATA7	Pathogenic/Likely pathogenic	14	88883138	88883138	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339892,OMIM:609868.0001
Duplication	NM_018418.5(SPATA7):c.960dup (p.Pro321fs)	SPATA7	Pathogenic	14	88895738	88895739	T	TA	criteria provided, single submitter	ClinGen:CA339894,OMIM:609868.0002