"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 198756	NM_000157.4(GBA1):c.762-18T>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
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 1119997	NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)	GBA1, LOC106627981 (R115* +2 more)	Single nucleotide variant (nonsense)	GBA1-related condition +3 more	GPathogenic/Likely pathogenic
Select item 1330880	NM_000157.4(GBA1):c.355G>C (p.Gly119Arg)	GBA1, LOC106627981 (G119R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428704	NM_000157.4(GBA1):c.350T>C (p.Val117Ala)	GBA1, LOC106627981 (V117A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 196296	NM_000157.4(GBA1):c.38A>G (p.Lys13Arg)	GBA1 (K13R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2921042	NM_000157.4(GBA1):c.17_18del (p.Pro6fs)	GBA1 (P6fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic