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_007217.4(PDCD10):c.510C>G (p.Tyr170Ter)	PDCD10	Pathogenic/Likely pathogenic	3	167405069	167405069	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA355154090
single nucleotide variant	NM_194454.3(KRIT1):c.1A>G (p.Met1Val)	KRIT1	Pathogenic/Likely pathogenic	7	91871449	91871449	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA368167328
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
single nucleotide variant	NM_007217.4(PDCD10):c.150+1G>A	PDCD10	Pathogenic/Likely pathogenic	3	167422629	167422629	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355154977
Deletion	NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)	KRIT1	Pathogenic/Likely pathogenic	7	91851251	91851255	CTTCTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042726
single nucleotide variant	NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91864731	91864731	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605352
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
single nucleotide variant	NM_031443.4(CCM2):c.745+1G>C	CCM2	Pathogenic	7	45109561	45109561	G	C	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_167684288)_(167720177_?)del	PDCD10	Pathogenic	3	167402076	167437965	na	na	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.659dup (p.Leu220fs)	KRIT1	Pathogenic	7	91864786	91864787	T	TA	criteria provided, single submitter	-