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
single nucleotide variant	NM_003322.6(TULP1):c.1268T>C (p.Val423Ala)	TULP1	Pathogenic/Likely pathogenic	6	35471391	35471391	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA363779143
single nucleotide variant	NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)	TULP1	Likely pathogenic	6	35467877	35467877	A	T	criteria provided, single submitter	ClinGen:CA254155,UniProtKB:O00294#VAR_007942,OMIM:602280.0003
single nucleotide variant	NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	TULP1	Pathogenic	6	35467787	35467787	T	C	criteria provided, single submitter	UniProtKB:O00294#VAR_008280,ClinGen:CA227705
single nucleotide variant	NM_003322.6(TULP1):c.1495+1G>A	TULP1	Pathogenic	6	35467757	35467757	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227708,OMIM:602280.0005
single nucleotide variant	NM_003322.6(TULP1):c.1496-6C>A	TULP1	Pathogenic/Likely pathogenic	6	35466243	35466243	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227709
Duplication	NM_005802.5(TOPORS):c.2474dup (p.Tyr825Ter)	TOPORS	Pathogenic	9	32542048	32542049	G	GT	criteria provided, multiple submitters, no conflicts	OMIM:609507.0001
single nucleotide variant	NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter)	TOPORS	Pathogenic/Likely pathogenic	9	32541984	32541984	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353607
single nucleotide variant	NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)	PCARE	Pathogenic	2	29296416	29296416	T	A	criteria provided, single submitter	ClinGen:CA279265
single nucleotide variant	NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)	PCARE	Pathogenic	2	29296370	29296370	C	T	criteria provided, single submitter	ClinGen:CA1592578
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