"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC106627 - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256872	NM_000157.4(GBA1):c.1473C>T (p.Pro491=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not specified +8 more	GLikely benign
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 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 256871	NM_000157.4(GBA1):c.1225-34C>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 93447	NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	GBA1, LOC106627981 (T408M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +13 more	GBenign/Likely benign; risk factor
Select item 592663	NM_000157.4(GBA1):c.902G>A (p.Arg301His)	GBA1, LOC106627981 (R301H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 198756	NM_000157.4(GBA1):c.762-18T>A	LOC106627981, GBA1	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 256875	NM_000157.4(GBA1):c.761+46A>G	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 256874	NM_000157.4(GBA1):c.761+42A>C	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 256873	NM_000157.4(GBA1):c.454+47G>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	Gaucher disease type I +2 more	GBenign