GBA1[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93445	NM_000157.4(GBA1):c.115+1G>A	GBA1	Single nucleotide variant (intron variant +1 more)	Gaucher disease +9 more	GPathogenic/Likely pathogenic
Select item 2440423	NM_000157.4(GBA1):c.113C>G (p.Ser38Ter)	GBA1 (S38*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 974986	NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)	GBA1 (W36*)	Single nucleotide variant (nonsense +1 more)	Gaucher disease	GPathogenic
Select item 522661	NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)	GBA1 (S35L)	Single nucleotide variant (missense variant +1 more)	Gaucher disease +8 more	GUncertain significance
Select item 3098820	NM_000157.4(GBA1):c.95A>G (p.Gln32Arg)	GBA1 (Q32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4302	NM_000157.4(GBA1):c.84dup (p.Leu29fs)	GBA1 (L29fs)	Duplication (frameshift variant +1 more)	Parkinson disease, late-onset +8 more	GPathogenic
Select item 2836638	NM_000157.4(GBA1):c.84G>A (p.Leu28=)	GBA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1711227	NM_000157.4(GBA1):c.82T>C (p.Leu28=)	GBA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4307	NM_000157.4(GBA1):c.73del (p.Leu25fs)	GBA1 (L25fs)	Deletion (frameshift variant +1 more)	Gaucher disease type I	GPathogenic
Select item 285512	NM_000157.4(GBA1):c.58A>G (p.Ile20Val)	GBA1 (I20V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2227654	NM_000157.4(GBA1):c.46A>G (p.Ser16Gly)	GBA1 (S16G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2227653	NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)	GBA1 (L15S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2432068	NM_000157.4(GBA1):c.40C>T (p.Pro14Ser)	GBA1 (P14S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2445697	NM_000157.4(GBA1):c.39del (p.Lys13fs)	GBA1 (K13fs)	Deletion (frameshift variant +1 more)	Gaucher disease	GLikely pathogenic
Select item 196296	NM_000157.4(GBA1):c.38A>G (p.Lys13Arg)	GBA1 (K13R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 930745	NM_000157.4(GBA1):c.34C>T (p.Pro12Ser)	GBA1 (P12S)	Single nucleotide variant (missense variant +1 more)	Gaucher disease perinatal lethal	GUncertain significance
Select item 1799848	NM_000157.4(GBA1):c.28-12T>G	GBA1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 988810	NM_000157.4(GBA1):c.26_27del (p.Glu9fs)	GBA1 (E9fs)	Microsatellite (frameshift variant +1 more)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 2921042	NM_000157.4(GBA1):c.17_18del (p.Pro6fs)	GBA1 (P6fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1311272	NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)	GBA1 (S4P)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type II +7 more	GUncertain significance
Select item 2445887	NM_000157.4(GBA1):c.-15A>G	GBA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1705113	NM_001005741.3(GBA1):c.-68-82A>G	GBA1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 558789	NM_001005741.3(GBA1):c.-68-135A>G	GBA1	Single nucleotide variant (intron variant)	GBA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2578609	GRCh37/hg19 1q22(chr1:155207925-155210903)x1	GBA1	Copy number loss	not provided	GPathogenic
Select item 2498454	GRCh37/hg19 1q22(chr1:155204786-155205102)x1	GBA1	Copy number loss	not provided	GLikely pathogenic
Select item 1711250	GRCh37/hg19 1q22(chr1:155204786-155205635)x1	GBA1	Copy number loss	not provided	GLikely pathogenic
Select item 813310	GRCh37/hg19 1q22(chr1:155188179-155209868)	GBA1	Copy number loss	Parkinson disease, late-onset	GPathogenic
Select item 394123	GRCh37/hg19 1q22(chr1:155184360-155207954)x3	GBA1	Copy number gain	See cases	GBenign
Select item 1804121	NC_000001.10:g.155183259_(155210558_155210826)del	GBA1	Deletion	Parkinson disease, late-onset	GLikely pathogenic

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Items: 29