C1842704[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 16

	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)	Gaucher disease +9 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 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	not specified +14 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)	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)	Parkinson disease, late-onset +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 type II +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)	Gaucher disease perinatal lethal +12 more	GPathogenic/Likely pathogenic; risk factor
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)	not provided +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 21072	NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	GBA1, LOC106627981 (S235P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +9 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)	Gaucher disease type I +8 more	GPathogenic
Select item 642539	NM_000157.4(GBA1):c.222_224del (p.Thr75del)	GBA1, LOC106627981 (T75del)	Deletion (inframe_deletion +1 more)	Lewy body dementia +9 more	GPathogenic/Likely pathogenic
Select item 1028106	NM_000157.4(GBA1):c.145G>A (p.Gly49Ser)	GBA1, LOC106627981 (G49S)	Single nucleotide variant (missense variant +1 more)	Gaucher disease perinatal lethal +1 more	GUncertain significance
Select item 93445	NM_000157.4(GBA1):c.115+1G>A	GBA1	Single nucleotide variant (intron variant +1 more)	Lewy body dementia +9 more	GPathogenic/Likely pathogenic
Select item 4302	NM_000157.4(GBA1):c.84dup (p.Leu29fs)	GBA1 (L29fs)	Duplication (frameshift variant +1 more)	Gaucher disease type I +8 more	GPathogenic