"Foundation for Research in Genetics and Endocrinology, FRIGE's Instit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 236402	NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr)	LOC106627981, GBA1 (A487T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
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)	Resting tremor +15 more	GPathogenic; risk factor
Select item 236405	NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)	GBA1, LOC106627981 (I466S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
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 918140	NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)	GBA1, LOC106627981 (S308F +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 236400	NM_000157.4(GBA1):c.1177C>G (p.Leu393Val)	GBA1, LOC106627981 (L393V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 236406	NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)	GBA1, LOC106627981 (G289A +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 375274	NM_000157.4(GBA1):c.835C>G (p.Leu279Val)	GBA1, LOC106627981 (L279V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type III	GUncertain significance
Select item 632834	NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)	GBA1, LOC106627981 (W218* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease type I +2 more	GPathogenic
Select item 2687881	NM_000157.4(GBA1):c.444del (p.Ser149fs)	GBA1, LOC106627981 (S149fs +1 more)	Deletion (frameshift variant +1 more)	Gaucher disease type I	GLikely pathogenic
Select item 236399	NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)	GBA1, LOC106627981 (A139P +1 more)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type I	GLikely pathogenic
Select item 2503944	NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)	GBA1, LOC106627981 (R87Q)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type I +1 more	GPathogenic/Likely pathogenic
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 4313	NM_000157.4(GBA1):c.160G>T (p.Val54Leu)	GBA1, LOC106627981 (V54L)	Single nucleotide variant (missense variant +1 more)	Gaucher disease type I	GPathogenic