Related gene-specific medical variations for Gene (Select 2629) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064209	NM_000157.4(GBA1):c.820G>A (p.Glu274Lys)	GBA1, LOC106627981 (E187K +2 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic
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 2690607	NM_000157.4(GBA1):c.1236C>A (p.Tyr412Ter)	GBA1, LOC106627981 (Y325* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690606	NM_000157.4(GBA1):c.1138G>A (p.Ala380Thr)	GBA1, LOC106627981 (A293T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2683778	NM_000157.4(GBA1):c.685G>A (p.Ala229Thr)	GBA1, LOC106627981 (A142T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683777	NM_000157.4(GBA1):c.905A>T (p.Asp302Val)	GBA1, LOC106627981 (D215V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682534	NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)	GBA1, LOC106627981 (R311Q +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +1 more	GPathogenic/Likely pathogenic
Select item 2671839	NM_000157.4(GBA1):c.538G>A (p.Asp180Asn)	GBA1, LOC106627981 (D131N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type II	GLikely pathogenic
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 2639400	NM_000157.4(GBA1):c.326A>G (p.Gln109Arg)	GBA1, LOC106627981 (Q109R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639399	NM_000157.4(GBA1):c.459C>T (p.Ile153=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2637773	NM_000157.4(GBA1):c.1103G>A (p.Arg368His)	GBA1, LOC106627981 (R281H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627744	NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)	LOC106627981, GBA1 (L216I +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I	GUncertain significance
Select item 2612233	NM_000157.4(GBA1):c.566C>A (p.Pro189Gln)	GBA1, LOC106627981 (P102Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604357	NM_000157.4(GBA1):c.555C>A (p.Asn185Lys)	GBA1, LOC106627981 (N98K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2581565	NM_000157.4(GBA1):c.776A>G (p.Tyr259Cys)	GBA1, LOC106627981 (Y172C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease	GLikely pathogenic
Select item 2581564	NM_000157.4(GBA1):c.588G>T (p.Lys196Asn)	GBA1, LOC106627981 (K109N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581173	NM_000157.4(GBA1):c.1054T>C (p.Tyr352His)	GBA1, LOC106627981 (Y265H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease	GPathogenic
Select item 2579726	NM_000157.4(GBA1):c.257G>A (p.Arg86Gln)	GBA1, LOC106627981 (R86Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579621	NM_000157.4(GBA1):c.212C>T (p.Pro71Leu)	GBA1, LOC106627981 (P71L)	Single nucleotide variant (missense variant +1 more)	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	GLikely pathogenic
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 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 2577334	NM_000157.4(GBA1):c.1263C>A (p.Asn421Lys)	GBA1, LOC106627981 (N334K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574921	NM_000157.4(GBA1):c.1167G>C (p.Gln389His)	GBA1, LOC106627981 (Q302H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573446	NM_000157.4(GBA1):c.469A>T (p.Ile157Phe)	GBA1, LOC106627981 (I108F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570735	NM_000157.4(GBA1):c.720C>G (p.Pro240=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554481	NM_000157.4(GBA1):c.844G>A (p.Gly282Arg)	LOC106627981, GBA1 (G195R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551967	NM_000157.4(GBA1):c.702G>T (p.Gly234=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2517280	NM_000157.4(GBA1):c.1489G>A (p.Val497Met)	GBA1, LOC106627981 (V497M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506226	NM_000157.4(GBA1):c.385G>A (p.Ala129Thr)	GBA1, LOC106627981 (A129T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504379	NM_000157.4(GBA1):c.449AAG[1] (p.Glu151del)	GBA1, LOC106627981 (E151del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2503945	NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)	GBA1, LOC106627981 (S318R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease	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 2501769	NM_000157.4(GBA1):c.203C>G (p.Pro68Arg)	GBA1, LOC106627981 (P68R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501768	NM_000157.4(GBA1):c.687G>A (p.Ala229=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2501093	NM_000157.4(GBA1):c.847T>C (p.Tyr283His)	GBA1, LOC106627981 (Y196H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease	GLikely pathogenic
Select item 2500802	NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)	GBA1, LOC106627981 (I212N +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GLikely pathogenic
Select item 2445939	NM_000157.4(GBA1):c.136A>G (p.Lys46Glu)	GBA1, LOC106627981 (K46E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2440423	NM_000157.4(GBA1):c.113C>G (p.Ser38Ter)	GBA1 (S38*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2440415	NM_000157.4(GBA1):c.1162G>A (p.Glu388Lys)	GBA1, LOC106627981 (E301K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2436490	NM_000157.4(GBA1):c.1260G>A (p.Trp420Ter)	GBA1, LOC106627981 (W333* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2432074	NM_000157.4(GBA1):c.479T>C (p.Val160Ala)	GBA1, LOC106627981 (V111A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432073	NM_000157.4(GBA1):c.644C>T (p.Ala215Val)	GBA1, LOC106627981 (A128V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432071	NM_000157.4(GBA1):c.812C>A (p.Ala271Asp)	GBA1, LOC106627981 (A184D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432070	NM_000157.4(GBA1):c.802G>A (p.Ala268Thr)	GBA1, LOC106627981 (A181T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432069	NM_000157.4(GBA1):c.1171G>A (p.Val391Met)	GBA1, LOC106627981 (V304M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432068	NM_000157.4(GBA1):c.40C>T (p.Pro14Ser)	GBA1 (P14S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432067	NM_000157.4(GBA1):c.1261A>C (p.Asn421His)	GBA1, LOC106627981 (N334H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432066	NM_000157.4(GBA1):c.608C>A (p.Ala203Asp)	GBA1, LOC106627981 (A116D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432065	NM_000157.4(GBA1):c.686C>T (p.Ala229Val)	GBA1, LOC106627981 (A142V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432064	NM_000157.4(GBA1):c.818A>G (p.Asn273Ser)	GBA1, LOC106627981 (N186S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432063	NM_000157.4(GBA1):c.827C>T (p.Ser276Phe)	GBA1, LOC106627981 (S189F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432062	NM_000157.4(GBA1):c.686C>A (p.Ala229Glu)	GBA1, LOC106627981 (A142E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430567	NM_000157.4(GBA1):c.917C>T (p.Thr306Ile)	GBA1, LOC106627981 (T219I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2420545	NM_000157.4(GBA1):c.1270C>T (p.Leu424=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369804	NM_000157.4(GBA1):c.232C>T (p.Arg78Cys)	GBA1, LOC106627981 (R78C)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset +2 more	GUncertain significance
Select item 2263732	NM_000157.4(GBA1):c.677C>G (p.Thr226Ser)	LOC106627981, GBA1 (T139S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252580	NM_000157.4(GBA1):c.124C>T (p.Pro42Ser)	GBA1, LOC106627981 (P42S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205183	NM_000157.4(GBA1):c.474C>G (p.Ile158Met)	LOC106627981, GBA1 (I158M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809693	NM_000157.4(GBA1):c.*92G>A	GBA1, LOC106627981	Single nucleotide variant (3 prime UTR variant)	Gaucher disease type II +6 more	GLikely benign
Select item 1804121	NC_000001.10:g.155183259_(155210558_155210826)del	GBA1	Deletion	Parkinson disease, late-onset	GLikely pathogenic
Select item 1800198	NM_000157.4(GBA1):c.845G>A (p.Gly282Glu)	GBA1, LOC106627981 (G195E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1800141	NM_000157.4(GBA1):c.152G>T (p.Ser51Ile)	GBA1, LOC106627981 (S51I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1799861	NM_000157.4(GBA1):c.364G>C (p.Gly122Arg)	GBA1, LOC106627981 (G122R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1799843	NM_000157.4(GBA1):c.1072C>T (p.Pro358Ser)	GBA1, LOC106627981 (P271S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1799756	NM_000157.4(GBA1):c.236_237del (p.Arg78_Tyr79insTer)	GBA1, LOC106627981	Deletion (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 1799703	NM_000157.4(GBA1):c.517A>G (p.Thr173Ala)	GBA1, LOC106627981 (T124A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1799687	NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)	GBA1, LOC106627981 (S318N +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +1 more	GConflicting classifications of pathogenicity
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 1711226	NM_000157.4(GBA1):c.964G>A (p.Asp322Asn)	GBA1, LOC106627981 (D235N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704378	NM_000157.4(GBA1):c.484A>G (p.Met162Val)	GBA1, LOC106627981 (M113V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +2 more	GConflicting classifications of pathogenicity
Select item 1701111	NM_000157.4(GBA1):c.1006A>T (p.Thr336Ser)	GBA1, LOC106627981 (T249S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1698566	NM_000157.4(GBA1):c.1505+2T>A	GBA1, LOC106627981	Single nucleotide variant (splice donor variant)	Gaucher disease	GLikely pathogenic
Select item 1698486	NM_000157.4(GBA1):c.898del (p.Ala300fs)	GBA1, LOC106627981 (A213fs +2 more)	Deletion (frameshift variant)	Gaucher disease	GPathogenic
Select item 1691434	NM_000157.4(GBA1):c.816A>C (p.Glu272Asp)	GBA1, LOC106627981 (E185D +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1691424	NM_000157.4(GBA1):c.314T>C (p.Leu105Pro)	GBA1, LOC106627981 (L105P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1683270	NM_000157.4(GBA1):c.454+1G>A	GBA1, LOC106627981	Single nucleotide variant (splice donor variant +1 more)	Gaucher disease	GLikely pathogenic
Select item 1678838	NM_000157.4(GBA1):c.546G>A (p.Gln182=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1678405	NM_000157.4(GBA1):c.1225-14T>C	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1678338	NM_000157.4(GBA1):c.1225-3T>C	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1678026	NM_000157.4(GBA1):c.376_377del (p.Asp126fs)	GBA1, LOC106627981 (D126fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 1675378	NM_000157.4(GBA1):c.761+4A>G	GBA1, LOC106627981	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 1598341	NM_000157.4(GBA1):c.1305C>T (p.Asn435=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1550581	NM_000157.4(GBA1):c.1284A>C (p.Gly428=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1339116	NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)	LOC106627981, GBA1 (S115R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +2 more	GLikely pathogenic

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