ゴーシェ病 - MGenReviews

ゴーシェ病

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_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	GBA1	Pathogenic/Likely pathogenic	1	155204794	155204794	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1141476,UniProtKB:P04062#VAR_003327,ClinVar:424820
single nucleotide variant	NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)	GBA1	Likely pathogenic	1	155207235	155207235	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275428
Deletion	NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)	GBA1	Pathogenic	1	155205541	155205595	GGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253083,dbVar:nssv3761540,OMIM:606463.0023
single nucleotide variant	NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	GBA1	Pathogenic/Likely pathogenic	1	155207965	155207965	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221411,UniProtKB:P04062#VAR_003279
single nucleotide variant	NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	GBA1	Pathogenic/Likely pathogenic	1	155208005	155208005	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA221409,UniProtKB:P04062#VAR_003275
single nucleotide variant	NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	GBA1	Pathogenic/Likely pathogenic	1	155208061	155208061	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221403,UniProtKB:P04062#VAR_032404
single nucleotide variant	NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)	GBA1	Pathogenic	1	155208388	155208388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221401,UniProtKB:P04062#VAR_009035
Deletion	NM_000157.4(GBA1):c.487del (p.Ala163fs)	GBA1	Pathogenic	1	155208409	155208409	GC	G	criteria provided, single submitter	ClinGen:CA221400
single nucleotide variant	NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	GBA1	Pathogenic/Likely pathogenic	1	155205043	155205043	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040607
single nucleotide variant	NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)	GBA1	Pathogenic/Likely pathogenic	1	155205620	155205620	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221390,UniProtKB:P04062#VAR_010068