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
Deletion	NM_194454.3(KRIT1):c.1807del (p.His603fs)	KRIT1	Pathogenic	7	91843217	91843217	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588436
single nucleotide variant	NM_194454.3(KRIT1):c.1731-2A>G	KRIT1	Pathogenic	7	91843295	91843295	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588437
single nucleotide variant	NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)	KRIT1	Pathogenic	7	91852280	91852280	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588438
single nucleotide variant	NM_194454.3(KRIT1):c.1146+1G>A	KRIT1	Pathogenic	7	91855839	91855839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588439
single nucleotide variant	NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91864165	91864165	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588440
Deletion	NM_194454.3(KRIT1):c.152_155del (p.Lys51fs)	KRIT1	Pathogenic	7	91870414	91870417	AACTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588441
Duplication	NM_007217.4(PDCD10):c.467dup (p.Asn156fs)	PDCD10	Pathogenic	3	167405409	167405410	G	GT	criteria provided, single submitter	ClinGen:CA10602867
single nucleotide variant	NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)	CCM2	Pathogenic	7	45103526	45103526	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602956
Deletion	NM_194454.3(KRIT1):c.1192_1204del (p.Glu398fs)	KRIT1	Pathogenic	7	91855084	91855096	TTTTGTTTGTTTTC	T	criteria provided, single submitter	ClinGen:CA10603044
Duplication	NM_194454.3(KRIT1):c.1685dup (p.Tyr563fs)	KRIT1	Pathogenic	7	91843969	91843970	G	GA	criteria provided, single submitter	ClinGen:CA10603049