"Revvity Omics, Revvity"[submitter] AND "LOC106627981"[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440413	NM_000157.4(GBA1):c.1542_*99del (p.Ala515fs)	LOC106627981, GBA1 (A428fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1322983	NM_000157.4(GBA1):c.1606C>T (p.Gln536Ter)	GBA1, LOC106627981 (Q449* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 4311	NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	GBA1, LOC106627981 (R535H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +9 more	GPathogenic/Likely pathogenic
Select item 2432075	NM_000157.4(GBA1):c.1603C>A (p.Arg535Ser)	GBA1, LOC106627981 (R448S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242383	NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	GBA1, LOC106627981 (R535C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +2 more	GPathogenic
Select item 596681	NM_000157.4(GBA1):c.1506-10_1506-9delinsGA	LOC106627981, GBA1	Indel (intron variant)	Gaucher disease perinatal lethal +7 more	GUncertain significance
Select item 21070	NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	GBA1, LOC106627981 (R502H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +5 more	GPathogenic/Likely pathogenic
Select item 4295	NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	GBA1, LOC106627981 (R502C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +9 more	GPathogenic
Select item 691989	NM_000157.4(GBA1):c.1503C>G (p.Asn501Lys)	GBA1, LOC106627981 (N414K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 93450	NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)	GBA1, LOC106627981 (A495P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4297	NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]	GBA1, LOC106627981 (L483P +5 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset +1 more	GPathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +15 more	GPathogenic; risk factor
Select item 1322984	NM_000157.4(GBA1):c.1388+1G>A	GBA1, LOC106627981	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 4293	NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	GBA1, LOC106627981 (D448H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +9 more	GPathogenic/Likely pathogenic
Select item 193611	NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)	GBA1, LOC106627981 (L335fs +2 more)	Deletion (frameshift variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more	GPathogenic
Select item 2690608	NM_000157.4(GBA1):c.1312G>T (p.Asp438Tyr)	GBA1, LOC106627981 (D351Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 4292	NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	GBA1, LOC106627981 (V433L +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 493050	NM_000157.4(GBA1):c.1279G>A (p.Glu427Lys)	GBA1, LOC106627981 (E427K +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 2432067	NM_000157.4(GBA1):c.1261A>C (p.Asn421His)	GBA1, LOC106627981 (N334H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436490	NM_000157.4(GBA1):c.1260G>A (p.Trp420Ter)	GBA1, LOC106627981 (W333* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 4327	NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	GBA1, LOC106627981 (G416S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	GPathogenic/Likely pathogenic
Select item 1176205	NM_000157.4(GBA1):c.1240G>C (p.Val414Leu)	GBA1, LOC106627981 (V327L +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 2690607	NM_000157.4(GBA1):c.1236C>A (p.Tyr412Ter)	GBA1, LOC106627981 (Y325* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +13 more	GPathogenic/Likely pathogenic; risk factor
Select item 1678338	NM_000157.4(GBA1):c.1225-3T>C	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 918140	NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)	GBA1, LOC106627981 (S308F +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +3 more	GPathogenic
Select item 2432069	NM_000157.4(GBA1):c.1171G>A (p.Val391Met)	GBA1, LOC106627981 (V304M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440415	NM_000157.4(GBA1):c.1162G>A (p.Glu388Lys)	GBA1, LOC106627981 (E301K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2690606	NM_000157.4(GBA1):c.1138G>A (p.Ala380Thr)	GBA1, LOC106627981 (A293T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 4306	NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)	GBA1, LOC106627981 (T362I +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	GPathogenic/Likely pathogenic
Select item 4325	NM_000157.4(GBA1):c.1049A>G (p.His350Arg)	GBA1, LOC106627981 (H350R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 813337	NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)	GBA1, LOC106627981 (R275C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 813339	NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)	GBA1, LOC106627981 (S223N +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 813340	NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)	GBA1, LOC106627981 (P256A +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 4328	NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	GBA1, LOC106627981 (R296Q +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +9 more	GPathogenic
Select item 242810	NM_000157.4(GBA1):c.882T>G (p.His294Gln)	GBA1, LOC106627981 (H294Q +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +7 more	GConflicting classifications of pathogenicity; other
Select item 2432063	NM_000157.4(GBA1):c.827C>T (p.Ser276Phe)	GBA1, LOC106627981 (S189F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432064	NM_000157.4(GBA1):c.818A>G (p.Asn273Ser)	GBA1, LOC106627981 (N186S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691434	NM_000157.4(GBA1):c.816A>C (p.Glu272Asp)	GBA1, LOC106627981 (E185D +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2432071	NM_000157.4(GBA1):c.812C>A (p.Ala271Asp)	GBA1, LOC106627981 (A184D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432070	NM_000157.4(GBA1):c.802G>A (p.Ala268Thr)	GBA1, LOC106627981 (A181T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4298	NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	GBA1, LOC106627981 (F255Y +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +8 more	GPathogenic/Likely pathogenic
Select item 4309	NM_000157.4(GBA1):c.751T>C (p.Tyr251His)	GBA1, LOC106627981 (Y251H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 93459	NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	GBA1, LOC106627981 (G241R +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 633239	NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)	LOC106627981, GBA1 (K237E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558788	NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)	GBA1, LOC106627981 (G234E +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2432065	NM_000157.4(GBA1):c.686C>T (p.Ala229Val)	GBA1, LOC106627981 (A142V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432062	NM_000157.4(GBA1):c.686C>A (p.Ala229Glu)	GBA1, LOC106627981 (A142E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4314	NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)	GBA1, LOC106627981 (N227S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +8 more	GPathogenic
Select item 93457	NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	GBA1, LOC106627981 (W223R +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2432073	NM_000157.4(GBA1):c.644C>T (p.Ala215Val)	GBA1, LOC106627981 (A128V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996254	NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)	GBA1, LOC106627981 (S125* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease +2 more	GPathogenic
Select item 2432066	NM_000157.4(GBA1):c.608C>A (p.Ala203Asp)	GBA1, LOC106627981 (A116D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1119997	NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)	GBA1, LOC106627981 (R115* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1162851	NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)	GBA1, LOC106627981 (P111L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 242811	NM_000157.4(GBA1):c.535G>C (p.Asp179His)	LOC106627981, GBA1 (D179H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1339116	NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)	LOC106627981, GBA1 (S115R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +2 more	GLikely pathogenic
Select item 1704378	NM_000157.4(GBA1):c.484A>G (p.Met162Val)	GBA1, LOC106627981 (M113V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +2 more	GConflicting classifications of pathogenicity
Select item 2432074	NM_000157.4(GBA1):c.479T>C (p.Val160Ala)	GBA1, LOC106627981 (V111A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4291	NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	GBA1, LOC106627981 (R159Q +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +5 more	GPathogenic/Likely pathogenic
Select item 65570	NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)	GBA1, LOC106627981 (R159W +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +1 more	GPathogenic
Select item 1322986	NM_000157.4(GBA1):c.408_412del (p.Pro137fs)	GBA1, LOC106627981 (P137fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 4330	NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)	GBA1, LOC106627981 (K118N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4321	NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	GBA1, LOC106627981 (R87W)	Single nucleotide variant (missense variant +1 more)	Gaucher disease perinatal lethal +9 more	GPathogenic
Select item 642539	NM_000157.4(GBA1):c.222_224del (p.Thr75del)	GBA1, LOC106627981 (T75del)	Deletion (inframe_deletion +1 more)	Parkinson disease, late-onset +8 more	GPathogenic/Likely pathogenic
Select item 987870	NM_000157.4(GBA1):c.203dup (p.Thr69fs)	GBA1, LOC106627981 (T69fs)	Duplication (frameshift variant +1 more)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 1321450	NM_000157.4(GBA1):c.203del (p.Pro68fs)	GBA1, LOC106627981 (P68fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1028106	NM_000157.4(GBA1):c.145G>A (p.Gly49Ser)	GBA1, LOC106627981 (G49S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 68