海綿状血管腫 - MGenReviews

海綿状血管腫

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
Duplication	NM_031443.4(CCM2):c.174dup (p.Leu59fs)	CCM2	Pathogenic	7	45077994	45077995	T	TG	criteria provided, single submitter	ClinGen:CA658796932
Duplication	NM_194454.3(KRIT1):c.1474dup (p.Ala492fs)	KRIT1	Likely pathogenic	7	91851304	91851305	G	GC	criteria provided, single submitter	ClinGen:CA658796965
Deletion	NM_194454.3(KRIT1):c.999del (p.Val334fs)	KRIT1	Pathogenic	7	91855987	91855987	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796968
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
Deletion	NC_000007.14:g.(?_92225700)_(92226702_?)del	KRIT1	Pathogenic	7	91855014	91856016	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.730-1G>C	KRIT1	Pathogenic/Likely pathogenic	7	91864238	91864238	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA368159107
Duplication	NM_007217.4(PDCD10):c.333dup (p.Gln112fs)	PDCD10	Pathogenic	3	167413445	167413446	G	GT	criteria provided, single submitter	-
Duplication	NM_007217.4(PDCD10):c.584dup (p.Asn195fs)	PDCD10	Pathogenic/Likely pathogenic	3	167402150	167402151	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.1437_1438del (p.Lys479fs)	KRIT1	Pathogenic	7	91851341	91851342	GGT	G	criteria provided, single submitter	-
Deletion	NM_031443.4(CCM2):c.219_220del (p.Leu73fs)	CCM2	Pathogenic	7	45103531	45103532	TAA	T	criteria provided, single submitter	-