ClinVar for MedGen (Select 78653) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1809693	NM_000157.4(GBA1):c.*92G>A	GBA1, LOC106627981	Single nucleotide variant (3 prime UTR variant)	Gaucher disease type II +6 more	GLikely benign
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 1308050	NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)	GBA1, LOC106627981 (A261G +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1211295	NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)	GBA1, LOC106627981 (W330G +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1210413	NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)	GBA1, LOC106627981 (M313I +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +7 more	GUncertain significance
Select item 1199281	NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)	LOC106627981, GBA1 (T362M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +7 more	GUncertain significance
Select item 987870	NM_000157.4(GBA1):c.203dup (p.Thr69fs)	GBA1, LOC106627981 (T69fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 932181	NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)	GBA1, LOC106627981 (P134T +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +7 more	GPathogenic/Likely pathogenic
Select item 928837	NM_000157.4(GBA1):c.914del (p.Pro305fs)	GBA1, LOC106627981 (P218fs +2 more)	Deletion (frameshift variant)	Parkinson disease, late-onset +7 more	GPathogenic/Likely pathogenic
Select item 813341	NM_000157.4(GBA1):c.509G>A (p.Arg170His)	GBA1, LOC106627981 (R83H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +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 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 813338	NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)	GBA1, LOC106627981 (R229C +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +6 more	GConflicting classifications of pathogenicity
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 813336	NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)	GBA1, LOC106627981 (R305W +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +3 more	GPathogenic
Select item 806230	NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)	LOC106627981, GBA1 (R83C)	Single nucleotide variant (missense variant +1 more)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more	GUncertain significance
Select item 806227	NM_000157.4(GBA1):c.1495G>A (p.Val499Met)	LOC106627981, GBA1 (V499M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +7 more	GUncertain significance
Select item 801555	NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)	GBA1, LOC106627981 (S376T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +6 more	GUncertain significance
Select item 694729	NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)	GBA1, LOC106627981 (S352N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +4 more	GUncertain significance
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 633240	NM_000157.4(GBA1):c.762-1G>C	GBA1, LOC106627981	Single nucleotide variant (splice acceptor variant)	Parkinson disease, late-onset +7 more	GPathogenic/Likely pathogenic
Select item 632835	NM_000157.4(GBA1):c.595_596del (p.Leu199fs)	LOC106627981, GBA1 (L150fs +2 more)	Deletion (frameshift variant)	Gaucher disease +9 more	GPathogenic
Select item 597184	NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	GBA1, LOC106627981 (S310G +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +7 more	GPathogenic/Likely pathogenic
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 522661	NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)	GBA1 (S35L)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +7 more	GUncertain significance
Select item 503740	NM_000157.4(GBA1):c.1224G>A (p.Thr408=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 496080	NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)	GBA1, LOC106627981 (W351S +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia +7 more	GLikely pathogenic
Select item 424819	NM_000157.3(GBA1):c.[1448T>C];[167T>G]			Gaucher disease type I	GLikely pathogenic
Select item 424818	NM_000157.3(GBA1):c.[1448T>C];[407C>T]			Gaucher disease type I	GLikely pathogenic
Select item 420153	NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)	GBA1, LOC106627981 (R368C +2 more)	Single nucleotide variant (missense variant)	GBA1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 375274	NM_000157.4(GBA1):c.835C>G (p.Leu279Val)	GBA1, LOC106627981 (L279V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type III	GUncertain significance
Select item 281587	NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)	GBA1, LOC106627981 (L213F +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GConflicting classifications of pathogenicity
Select item 256872	NM_000157.4(GBA1):c.1473C>T (p.Pro491=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Gaucher disease type I +8 more	GLikely benign
Select item 242810	NM_000157.4(GBA1):c.882T>G (p.His294Gln)	GBA1, LOC106627981 (H294Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity; other
Select item 198757	NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)	GBA1, LOC106627981 (I299T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more	GLikely pathogenic
Select item 198756	NM_000157.4(GBA1):c.762-18T>A	LOC106627981, GBA1	Single nucleotide variant (intron variant)	Inborn genetic diseases +9 more	GBenign/Likely benign
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 93459	NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	GBA1, LOC106627981 (G241R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +6 more	GPathogenic/Likely pathogenic
Select item 93458	NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	GBA1, LOC106627981 (N227K +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GPathogenic/Likely pathogenic
Select item 93457	NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	GBA1, LOC106627981 (W223R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GConflicting classifications of pathogenicity
Select item 93455	NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	GBA1, LOC106627981 (R209C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GPathogenic/Likely pathogenic
Select item 93453	NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)	GBA1, LOC106627981 (R170C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GPathogenic
Select item 93449	NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	GBA1, LOC106627981 (L483R +2 more)	Single nucleotide variant (missense variant)	GBA-related disorders +6 more	GPathogenic/Likely pathogenic
Select item 93446	NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)	GBA1, LOC106627981 (V391L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +5 more	GPathogenic/Likely pathogenic
Select item 93445	NM_000157.4(GBA1):c.115+1G>A	GBA1	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 21072	NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	GBA1, LOC106627981 (S235P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 21070	NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	GBA1, LOC106627981 (R502H +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 4335	NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)	GBA1, LOC106627981 (D395N +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia +8 more	GConflicting classifications of pathogenicity
Select item 4334	NM_001005741.2(GBA1):c.[880T>G;1342G>C]	GBA1, LOC106627981 (D448H +5 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +1 more	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 4328	NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	GBA1, LOC106627981 (R296Q +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	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 4326	NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)	GBA1, LOC106627981 (R398* +2 more)	Single nucleotide variant (nonsense)	Lewy body dementia +8 more	GPathogenic
Select item 4323	NM_000157.4(GBA1):c.1174C>G (p.Arg392Gly)	GBA1, LOC106627981 (R392G +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type III	GPathogenic
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 4318	NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)	GBA1, LOC106627981 (G364R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	GLikely pathogenic
Select item 4314	NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)	GBA1, LOC106627981 (N227S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	GPathogenic
Select item 4311	NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	GBA1, LOC106627981 (R535H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GPathogenic/Likely 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 4302	NM_000157.4(GBA1):c.84dup (p.Leu29fs)	GBA1 (L29fs)	Duplication (frameshift variant +1 more)	Gaucher disease perinatal lethal +8 more	GPathogenic
Select item 4301	NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)	GBA1, LOC106627981 (F252I +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +9 more	GPathogenic/Likely pathogenic
Select item 4298	NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	GBA1, LOC106627981 (F255Y +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	GPathogenic/Likely pathogenic
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)	not provided +1 more	GPathogenic
Select item 4295	NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	GBA1, LOC106627981 (R502C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +9 more	GPathogenic
Select item 4294	NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)	GBA1, LOC106627981 (D448V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
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 4292	NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	GBA1, LOC106627981 (V433L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	GPathogenic/Likely pathogenic
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 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +13 more	GPathogenic/Likely pathogenic; risk factor
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Resting tremor +15 more	GPathogenic; risk factor

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Items: 70