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.972del (p.Ile325fs)	KRIT1	Likely pathogenic	7	91863780	91863780	TG	T	criteria provided, single submitter	-
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.1114C>T (p.Gln372Ter)	KRIT1	Likely pathogenic	7	91855872	91855872	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1146+1G>C	KRIT1	Likely pathogenic	7	91855839	91855839	C	G	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	-
Deletion	NM_194454.3(KRIT1):c.1237del (p.Glu413fs)	KRIT1	Likely pathogenic	7	91855051	91855051	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1255-1G>A	KRIT1	Pathogenic	7	91852293	91852293	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs)	KRIT1	Likely pathogenic	7	91852280	91852284	GAACT	TACA	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1358dup (p.Ser454fs)	KRIT1	Likely pathogenic	7	91852188	91852189	G	GA	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs)	KRIT1	Likely pathogenic	7	91852188	91852192	AGAGAC	A	criteria provided, single submitter	-