2629[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3340468	NC_000001.11:g.155208308_155208441del	GBA1, THBS3	Deletion (intron variant)	Gaucher disease type I	GUncertain significance
Select item 2440413	NM_000157.4(GBA1):c.1542_*99del (p.Ala515fs)	LOC106627981, GBA1 (A428fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1809693	NM_000157.4(GBA1):c.*92G>A	GBA1, LOC106627981	Single nucleotide variant (3 prime UTR variant)	Gaucher disease perinatal lethal +6 more	GLikely benign
Select item 1322983	NM_000157.4(GBA1):c.1606C>T (p.Gln536Ter)	GBA1, LOC106627981 (Q449* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 4311	NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	GBA1, LOC106627981 (R535H +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +9 more	GPathogenic/Likely pathogenic
Select item 2432075	NM_000157.4(GBA1):c.1603C>A (p.Arg535Ser)	GBA1, LOC106627981 (R448S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242383	NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	GBA1, LOC106627981 (R535C +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +3 more	GPathogenic
Select item 3341051	NM_000157.4(GBA1):c.1601G>A (p.Arg534His)	GBA1, LOC106627981 (R447H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917862	NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)	GBA1, LOC106627981 (W446* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease	GPathogenic
Select item 1333747	NM_000157.4(GBA1):c.1586A>G (p.His529Arg)	GBA1, LOC106627981 (H442R +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 991403	NM_000157.4(GBA1):c.1566C>T (p.Ile522=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Gaucher disease	GUncertain significance
Select item 4310	NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser)	GBA1, LOC106627981 (G517S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 991404	NM_000157.4(GBA1):c.1548G>C (p.Val516=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Gaucher disease	GUncertain significance
Select item 1691430	NM_000157.4(GBA1):c.1537G>A (p.Asp513Asn)	GBA1, LOC106627981 (D426N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 974979	NM_000157.4(GBA1):c.1534A>T (p.Lys512Ter)	GBA1, LOC106627981 (K425* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 928836	NM_000157.4(GBA1):c.1515G>A (p.Lys505=)	LOC106627981, GBA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 4333	NM_000157.4(GBA1):c.1506-1G>A	GBA1, LOC106627981	Single nucleotide variant (splice acceptor variant)	Gaucher disease perinatal lethal	GPathogenic
Select item 289368	NM_000157.4(GBA1):c.1506-7T>C	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 596681	NM_000157.4(GBA1):c.1506-10_1506-9delinsGA	GBA1, LOC106627981	Indel (intron variant)	Lewy body dementia +7 more	GUncertain significance
Select item 1177278	NM_000157.4(GBA1):c.1506-12C>T	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193828	NM_000157.4(GBA1):c.1505+10A>T	LOC106627981, GBA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2579610	NM_000157.4(GBA1):c.1505+2T>C	GBA1, LOC106627981	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1698566	NM_000157.4(GBA1):c.1505+2T>A	GBA1, LOC106627981	Single nucleotide variant (splice donor variant)	Gaucher disease	GLikely pathogenic
Select item 21070	NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	GBA1, LOC106627981 (R502H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +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 691989	NM_000157.4(GBA1):c.1503C>G (p.Asn501Lys)	GBA1, LOC106627981 (N414K +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +1 more	GLikely pathogenic
Select item 93451	NM_000157.4(GBA1):c.1497G>C (p.Val499=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 806227	NM_000157.4(GBA1):c.1495G>A (p.Val499Met)	GBA1, LOC106627981 (V499M +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia +7 more	GUncertain significance
Select item 634558	NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)	GBA1, LOC106627981 (V499L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3098819	NM_000157.4(GBA1):c.1494C>T (p.Val498=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2517280	NM_000157.4(GBA1):c.1489G>A (p.Val497Met)	GBA1, LOC106627981 (V497M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1309398	NM_000157.4(GBA1):c.1489G>C (p.Val497Leu)	GBA1, LOC106627981 (V410L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93450	NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)	GBA1, LOC106627981 (A495P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1174629	NM_000157.4(GBA1):c.1475A>T (p.Asp492Val)	GBA1, LOC106627981 (D405V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210415	NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn)	LOC106627981, GBA1 (D405N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GUncertain significance
Select item 1175004	NM_000157.4(GBA1):c.1474G>C (p.Asp492His)	GBA1, LOC106627981 (D405H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2639397	NM_000157.4(GBA1):c.1463T>C (p.Leu488Pro)	GBA1, LOC106627981 (L401P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 236402	NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr)	GBA1, LOC106627981 (A487T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 1199309	NM_000157.4(GBA1):c.1455A>G (p.Ala485=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Gaucher disease type I +5 more	GConflicting classifications of pathogenicity
Select item 2578282	NM_000157.4(GBA1):c.1454C>G (p.Ala485Gly)	LOC106627981, GBA1 (A398G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366718	NM_000157.4(GBA1):c.1453G>A (p.Ala485Thr)	GBA1, LOC106627981 (A398T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806228	NM_000157.4(GBA1):c.1453G>C (p.Ala485Pro)	GBA1, LOC106627981 (A485P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93449	NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	GBA1, LOC106627981 (L483R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +6 more	GPathogenic/Likely pathogenic
Select item 4297	NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]	GBA1, LOC106627981 (L483P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +14 more	GPathogenic; risk factor
Select item 496082	NM_000157.4(GBA1):c.1447C>T (p.Leu483=)	LOC106627981, GBA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1677224	NM_000157.4(GBA1):c.1439_1445del (p.Lys480fs)	GBA1, LOC106627981 (K393fs +2 more)	Deletion (frameshift variant)	Gaucher disease	GPathogenic
Select item 4335	NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)	GBA1, LOC106627981 (D395N +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +8 more	GConflicting classifications of pathogenicity
Select item 2582864	NM_000157.4(GBA1):c.1437GAA[1] (p.Lys480del)	GBA1, LOC106627981 (K393del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 209103	NM_000157.4(GBA1):c.1440G>C (p.Lys480Asn)	GBA1, LOC106627981 (K480N +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 193827	NM_000157.4(GBA1):c.1431C>G (p.Ala477=)	LOC106627981, GBA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2578583	NM_000157.4(GBA1):c.1417G>T (p.Val473Leu)	GBA1, LOC106627981 (V386L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639398	NM_000157.4(GBA1):c.1403A>C (p.Glu468Ala)	GBA1, LOC106627981 (E381A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 236405	NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)	LOC106627981, GBA1 (I466S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 3393075	NM_000157.4(GBA1):c.1393T>G (p.Phe465Val)	GBA1, LOC106627981 (F378V +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia	GLikely pathogenic
Select item 452006	NM_000157.4(GBA1):c.1389-13T>A	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 930901	NM_000157.4(GBA1):c.1389-33del	GBA1, LOC106627981	Deletion (intron variant)	Gaucher disease perinatal lethal	GUncertain significance
Select item 813335	NM_000157.4(GBA1):c.1388+2T>C	GBA1, LOC106627981	Single nucleotide variant (splice donor variant)	Gaucher disease type I	GLikely pathogenic
Select item 1322984	NM_000157.4(GBA1):c.1388+1G>A	GBA1, LOC106627981	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 801555	NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)	GBA1, LOC106627981 (S376T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +6 more	GUncertain significance
Select item 1722541	NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu)	GBA1, LOC106627981 (P367L +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia	GPathogenic
Select item 4289	NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg)	GBA1, LOC106627981 (P454R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type II	GPathogenic
Select item 633241	NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)	GBA1, LOC106627981 (Q453* +2 more)	Single nucleotide variant (nonsense)	Gaucher disease	GPathogenic
Select item 1700273	NM_000157.4(GBA1):c.1355A>G (p.Lys452Arg)	GBA1, LOC106627981 (K365R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496800	NM_000157.4(GBA1):c.1348T>A (p.Phe450Ile)	LOC106627981, GBA1 (F450I +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 770492	NM_000157.4(GBA1):c.1347G>C (p.Thr449=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1199281	NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)	GBA1, LOC106627981 (T362M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +7 more	GUncertain significance
Select item 4294	NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)	GBA1, LOC106627981 (D448V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GLikely pathogenic
Select item 4334	NM_001005741.2(GBA1):c.[880T>G;1342G>C]	GBA1, LOC106627981 (D448H +5 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +1 more	GPathogenic
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 1342868	NM_000157.4(GBA1):c.1265_1320del (p.Leu422fs)	GBA1, LOC106627981 (L335fs +2 more)	Deletion (frameshift variant)	Gaucher disease perinatal lethal	GPathogenic
Select item 193611	NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)	GBA1, LOC106627981 (L335fs +2 more)	Deletion (frameshift variant)	Parkinson disease, late-onset +8 more	GPathogenic
Select item 4324	NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu)	GBA1, LOC106627981 (P440L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GPathogenic
Select item 694729	NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)	GBA1, LOC106627981 (S352N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +4 more	GUncertain significance
Select item 1153308	NM_000157.4(GBA1):c.1314C>T (p.Asp438=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690608	NM_000157.4(GBA1):c.1312G>T (p.Asp438Tyr)	GBA1, LOC106627981 (D351Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1319931	NM_000157.4(GBA1):c.1312G>C (p.Asp438His)	GBA1, LOC106627981 (D351H +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GLikely pathogenic
Select item 496081	NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)	LOC106627981, GBA1 (D438N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1622253	NM_000157.4(GBA1):c.1311C>T (p.Val437=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663252	NM_000157.4(GBA1):c.1309G>C (p.Val437Leu)	GBA1, LOC106627981 (V350L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4303	NM_000157.4(GBA1):c.1309G>T (p.Val437Phe)	GBA1, LOC106627981 (V437F +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal	GPathogenic
Select item 592182	NM_000157.4(GBA1):c.1307T>C (p.Phe436Ser)	GBA1, LOC106627981 (F436S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598341	NM_000157.4(GBA1):c.1305C>T (p.Asn435=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161836	NM_000157.4(GBA1):c.1302T>A (p.Arg434=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146878	NM_000157.4(GBA1):c.1302T>C (p.Arg434=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429167	NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)	GBA1, LOC106627981 (R347C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease	GLikely pathogenic
Select item 4292	NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	GBA1, LOC106627981 (V433L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 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)	Gaucher disease +1 more	GConflicting classifications of pathogenicity
Select item 599275	NM_000157.4(GBA1):c.1294T>A (p.Trp432Arg)	GBA1, LOC106627981 (W432R +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GPathogenic
Select item 1144024	NM_000157.4(GBA1):c.1293T>C (p.Asn431=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239090	NM_000157.4(GBA1):c.1292A>G (p.Asn431Ser)	GBA1, LOC106627981 (N344S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1596677	NM_000157.4(GBA1):c.1290C>T (p.Pro430=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 931820	NM_000157.4(GBA1):c.1289C>T (p.Pro430Leu)	LOC106627981, GBA1 (P430L +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +1 more	GPathogenic
Select item 1550581	NM_000157.4(GBA1):c.1284A>C (p.Gly428=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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