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.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
single nucleotide variant	NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	GBA1	Pathogenic/Likely pathogenic	1	155205614	155205614	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253107,UniProtKB:P04062#VAR_003303,OMIM:606463.0040
single nucleotide variant	NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter)	GBA1	Likely pathogenic	1	155205610	155205610	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)	GBA1	Likely pathogenic	1	155205589	155205589	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter)	GBA1	Likely pathogenic	1	155205581	155205581	C	A	criteria provided, single submitter	ClinGen:CA342713575
single nucleotide variant	NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	GBA1	Pathogenic/Likely pathogenic	1	155205563	155205563	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253059,UniProtKB:P04062#VAR_003310,OMIM:606463.0005
single nucleotide variant	NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)	GBA1	Pathogenic	1	155205548	155205548	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342713229
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.1342G>C (p.Asp448His)	GBA1	Pathogenic/Likely pathogenic	1	155205518	155205518	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221392,UniProtKB:P04062#VAR_003313,OMIM:606463.0006,OMIM:606463.0047,ClinVar:4334
single nucleotide variant	NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)	GBA1	Likely pathogenic	1	155205517	155205517	T	A	criteria provided, single submitter	ClinGen:CA253061,UniProtKB:P04062#VAR_003314,OMIM:606463.0007