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_031443.4(CCM2):c.289-19_352del	CCM2	Likely pathogenic	7	45104042	45104124	ATGCCCTGTGGTTCCTTCCAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCG	A	criteria provided, single submitter	-
Deletion	NM_031443.4(CCM2):c.298del (p.Gln100fs)	CCM2	Likely pathogenic	7	45104070	45104070	AC	A	criteria provided, single submitter	-
Deletion	NM_031443.4(CCM2):c.586del (p.Val196fs)	CCM2	Likely pathogenic	7	45108154	45108154	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_031443.4(CCM2):c.609G>A (p.Lys203=)	CCM2	Likely pathogenic	7	45108178	45108178	G	A	criteria provided, single submitter	-
Deletion	NM_031443.4(CCM2):c.790del (p.Glu264fs)	CCM2	Likely pathogenic	7	45112368	45112368	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.2143-1G>C	KRIT1	Likely pathogenic	7	91830119	91830119	C	G	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.2139del (p.Lys713fs)	KRIT1	Likely pathogenic	7	91830624	91830624	GT	G	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.2083dup (p.Thr695fs)	KRIT1	Likely pathogenic	7	91830679	91830680	G	GT	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.2043del (p.Lys682fs)	KRIT1	Likely pathogenic	7	91830720	91830720	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.2025+2T>C	KRIT1	Likely pathogenic	7	91842507	91842507	A	G	criteria provided, single submitter	-