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.418C>T (p.Arg140Ter)	KRIT1	Pathogenic	7	91865794	91865794	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_194454.3(KRIT1):c.679dup (p.Thr227fs)	KRIT1	Pathogenic	7	91864766	91864767	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.730-1G>A	KRIT1	Pathogenic	7	91864238	91864238	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.842del (p.Asp281fs)	KRIT1	Pathogenic	7	91864125	91864125	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.845+1G>A	KRIT1	Pathogenic	7	91864121	91864121	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)	KRIT1	Pathogenic	7	91863872	91863872	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.1031del (p.Gly344fs)	KRIT1	Pathogenic	7	91855955	91855955	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1147-13C>G	KRIT1	Pathogenic	7	91855154	91855154	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1255-1G>A	KRIT1	Pathogenic	7	91852293	91852293	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)	KRIT1	Pathogenic	7	91852156	91852156	C	T	criteria provided, single submitter	-