海綿状血管腫 - MGenReviews

海綿状血管腫

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_194454.3(KRIT1):c.1849G>T (p.Glu617Ter)	KRIT1	Pathogenic	7	91842685	91842685	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA368140471
Deletion	NM_194454.3(KRIT1):c.1084del (p.Ala362fs)	KRIT1	Pathogenic	7	91855902	91855902	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657688
single nucleotide variant	NM_194454.3(KRIT1):c.486-1G>A	KRIT1	Pathogenic	7	91864961	91864961	C	T	criteria provided, single submitter	ClinGen:CA368161652
single nucleotide variant	NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter)	KRIT1	Pathogenic	7	91843259	91843259	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA368141307
single nucleotide variant	NM_194454.3(KRIT1):c.730G>T (p.Val244Leu)	KRIT1	Likely pathogenic	7	91864237	91864237	C	A	criteria provided, single submitter	ClinGen:CA368159083
Duplication	NM_194454.3(KRIT1):c.397dup (p.Tyr133fs)	KRIT1	Pathogenic	7	91865814	91865815	T	TA	criteria provided, single submitter	ClinGen:CA4339387
single nucleotide variant	NM_007217.4(PDCD10):c.558-2A>C	PDCD10	Pathogenic	3	167402179	167402179	T	G	criteria provided, single submitter	ClinGen:CA355153966
single nucleotide variant	NM_007217.4(PDCD10):c.474+5G>A	PDCD10	Pathogenic/Likely pathogenic	3	167405398	167405398	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657344
Deletion	NM_007217.4(PDCD10):c.160_163del (p.Glu54fs)	PDCD10	Pathogenic	3	167414902	167414905	TTTTC	T	criteria provided, single submitter	ClinGen:CA658657345
single nucleotide variant	NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter)	PDCD10	Pathogenic	3	167413457	167413457	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA355154555