"Ambry Genetics"[submitter] AND "GBA2"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1152509	NM_020944.3(GBA2):c.2744T>C (p.Phe915Ser)	GBA2 (F915S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3098827	NM_020944.3(GBA2):c.2701C>A (p.Pro901Thr)	GBA2 (P901T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 528000	NM_020944.3(GBA2):c.2609G>A (p.Arg870Gln)	GBA2 (R870Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 653072	NM_020944.3(GBA2):c.2564G>A (p.Arg855His)	GBA2 (R855H)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 652063	NM_020944.3(GBA2):c.2425G>A (p.Val809Ile)	GBA2 (V809I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3098825	NM_020944.3(GBA2):c.2338C>T (p.Arg780Cys)	GBA2 (R780C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 642848	NM_020944.3(GBA2):c.2228G>A (p.Arg743Gln)	GBA2 (R743Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3280887	NM_020944.3(GBA2):c.2200C>T (p.Arg734Cys)	GBA2 (R734C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3098824	NM_020944.3(GBA2):c.1813C>T (p.Arg605Cys)	GBA2 (R605C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280891	NM_020944.3(GBA2):c.1745T>C (p.Met582Thr)	GBA2 (M582T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098823	NM_020944.3(GBA2):c.1727A>T (p.Tyr576Phe)	GBA2 (Y576F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098822	NM_020944.3(GBA2):c.1721G>A (p.Arg574Gln)	GBA2 (R574Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328771	NM_020944.3(GBA2):c.1718G>A (p.Arg573Gln)	GBA2 (R573Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280888	NM_020944.3(GBA2):c.1717C>T (p.Arg573Trp)	GBA2 (R573W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386704	NM_020944.3(GBA2):c.1663G>C (p.Glu555Gln)	GBA2 (E555Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 696984	NM_020944.3(GBA2):c.1546A>G (p.Thr516Ala)	GBA2 (T516A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2610309	NM_020944.3(GBA2):c.1541G>A (p.Arg514His)	GBA2 (R514H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 241328	NM_020944.3(GBA2):c.1420G>A (p.Ala474Thr)	GBA2 (A474T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 844142	NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr)	GBA2 (A453T)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 2323209	NM_020944.3(GBA2):c.1352G>A (p.Arg451Gln)	GBA2 (R451Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2551039	NM_020944.3(GBA2):c.1319C>A (p.Ala440Glu)	GBA2 (A440E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098821	NM_020944.3(GBA2):c.1306C>G (p.Gln436Glu)	GBA2 (Q436E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 638396	NM_020944.3(GBA2):c.1285C>T (p.Arg429Trp)	GBA2 (R429W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2376049	NM_020944.3(GBA2):c.1266A>C (p.Lys422Asn)	GBA2 (K422N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307564	NM_020944.3(GBA2):c.1208A>G (p.Gln403Arg)	GBA2 (Q403R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2623384	NM_020944.3(GBA2):c.1153G>A (p.Gly385Arg)	GBA2 (G385R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 580695	NM_020944.3(GBA2):c.1093G>A (p.Asp365Asn)	GBA2 (D365N)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 3280889	NM_020944.3(GBA2):c.1091A>G (p.Gln364Arg)	GBA2 (Q364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216922	NM_020944.3(GBA2):c.1025C>T (p.Thr342Met)	GBA2 (T342M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 411203	NM_020944.3(GBA2):c.941G>A (p.Arg314His)	GBA2 (R314H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3098830	NM_020944.3(GBA2):c.901G>T (p.Ala301Ser)	GBA2 (A301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606000	NM_020944.3(GBA2):c.892G>A (p.Gly298Arg)	GBA2 (G298R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +1 more	GUncertain significance
Select item 1438642	NM_020944.3(GBA2):c.867C>G (p.Phe289Leu)	GBA2 (F289L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1014643	NM_020944.3(GBA2):c.806G>C (p.Gly269Ala)	GBA2 (G269A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2306999	NM_020944.3(GBA2):c.787G>C (p.Asp263His)	GBA2 (D263H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395095	NM_020944.3(GBA2):c.547C>T (p.Arg183Trp)	GBA2 (R183W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 458303	NM_020944.3(GBA2):c.491G>A (p.Arg164His)	GBA2 (R164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1057966	NM_020944.3(GBA2):c.481A>G (p.Thr161Ala)	GBA2 (T161A)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2306998	NM_020944.3(GBA2):c.333G>A (p.Met111Ile)	GBA2 (M111I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186487	NM_020944.3(GBA2):c.331A>G (p.Met111Val)	GBA2 (M111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3098828	NM_020944.3(GBA2):c.314A>G (p.Asn105Ser)	GBA2 (N105S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280886	NM_020944.3(GBA2):c.224A>G (p.Lys75Arg)	GBA2 (K75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 528012	NM_020944.3(GBA2):c.217G>A (p.Glu73Lys)	GBA2 (E73K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 986271	NM_020944.3(GBA2):c.164_165del (p.Lys55fs)	GBA2 (K55fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 218781	NM_020944.3(GBA2):c.134G>C (p.Cys45Ser)	GBA2 (C45S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +3 more	GUncertain significance
Select item 3280885	NM_020944.3(GBA2):c.110C>T (p.Thr37Ile)	GBA2 (T37I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 46