"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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Items: 42

	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 type I +9 more	GPathogenic/Likely pathogenic
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 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 4295	NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	GBA1, LOC106627981 (R502C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +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)	GBA-related disorders +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)	Movement 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)	Gaucher disease +9 more	GPathogenic/Likely pathogenic
Select item 493049	NM_000157.4(GBA1):c.1296G>A (p.Trp432Ter)	GBA1, LOC106627981 (W432* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 93448	NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)	GBA1, LOC106627981 (V414L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +2 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 +13 more	GPathogenic/Likely pathogenic; risk factor
Select item 93447	NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	GBA1, LOC106627981 (T408M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +3 more	GConflicting classifications of pathogenicity
Select item 4320	NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)	GBA1, LOC106627981 (S403T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely 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 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 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign; risk factor
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 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 93444	NM_000157.4(GBA1):c.1060G>C (p.Asp354His)	GBA1, LOC106627981 (D354H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +2 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 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 4328	NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	GBA1, LOC106627981 (R296Q +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +8 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 type I +8 more	GPathogenic/Likely pathogenic
Select item 4301	NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)	GBA1, LOC106627981 (F252I +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +9 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 21072	NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	GBA1, LOC106627981 (S235P +2 more)	Single nucleotide variant (missense variant)	not specified +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)	Gaucher disease +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)	Gaucher disease +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 242811	NM_000157.4(GBA1):c.535G>C (p.Asp179His)	GBA1, LOC106627981 (D179H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 280972	NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys)	GBA1, LOC106627981 (Y174C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4329	NM_000157.4(GBA1):c.509G>T (p.Arg170Leu)	GBA1, LOC106627981 (R170L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease	GLikely pathogenic
Select item 93453	NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)	GBA1, LOC106627981 (R170C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
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 197702	NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)	GBA1, LOC106627981 (S146L +1 more)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type I +3 more	GConflicting classifications of pathogenicity
Select item 197701	NM_000157.4(GBA1):c.431T>G (p.Leu144Arg)	LOC106627981, GBA1 (L144R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 4296	NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)	GBA1, LOC106627981 (G85E)	Single nucleotide variant (missense variant +1 more)	Gaucher disease	GPathogenic

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Items: 42