C0268250[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4311	NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	GBA1, LOC106627981 (R535H +2 more)	Single nucleotide variant (missense variant)	not specified +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)	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)	Parkinson disease, late-onset +9 more	GPathogenic
Select item 93449	NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	GBA1, LOC106627981 (L483R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +6 more	GPathogenic/Likely pathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	GBA1-related disorder +15 more	GPathogenic; risk factor
Select item 4293	NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	GBA1, LOC106627981 (D448H +2 more)	Single nucleotide variant (missense variant)	not provided +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 +8 more	GPathogenic/Likely pathogenic
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 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Rigidity +13 more	GPathogenic/Likely pathogenic; risk factor
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 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 420153	NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)	GBA1, LOC106627981 (R368C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +7 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 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 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)	GBA1-related disorder +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)	not specified +7 more	GConflicting classifications of pathogenicity; other
Select item 4298	NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	GBA1, LOC106627981 (F255Y +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +8 more	GPathogenic/Likely pathogenic
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 21072	NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	GBA1, LOC106627981 (S235P +2 more)	Single nucleotide variant (missense variant)	not provided +9 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 4314	NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)	GBA1, LOC106627981 (N227S +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +8 more	GPathogenic
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 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 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 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 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 93445	NM_000157.4(GBA1):c.115+1G>A	GBA1	Single nucleotide variant (intron variant +1 more)	Gaucher disease type I +9 more	GPathogenic/Likely pathogenic
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

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Items: 30