ClinVar for Gene (Select 57704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337138	NM_020944.3(GBA2):c.755A>G (p.Gln252Arg)	GBA2 (Q252R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337137	NM_020944.3(GBA2):c.2192G>A (p.Trp731Ter)	GBA2 (W731*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3280889	NM_020944.3(GBA2):c.1091A>G (p.Gln364Arg)	GBA2 (Q364R)	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 3280887	NM_020944.3(GBA2):c.2200C>T (p.Arg734Cys)	GBA2 (R734C)	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 3280885	NM_020944.3(GBA2):c.110C>T (p.Thr37Ile)	GBA2 (T37I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	AQP7, ARHGEF39 +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
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 3098828	NM_020944.3(GBA2):c.314A>G (p.Asn105Ser)	GBA2 (N105S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3098825	NM_020944.3(GBA2):c.2338C>T (p.Arg780Cys)	GBA2 (R780C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3098821	NM_020944.3(GBA2):c.1306C>G (p.Gln436Glu)	GBA2 (Q436E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068747	NM_020944.3(GBA2):c.1720C>T (p.Arg574Ter)	GBA2 (R574*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46	GPathogenic
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3034038	NM_020944.3(GBA2):c.2197+8C>T	GBA2	Single nucleotide variant (intron variant)	GBA2-related disorder	GLikely benign
Select item 3017688	NM_020944.3(GBA2):c.2505+14T>C	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3006894	NM_020944.3(GBA2):c.786+20A>G	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2963346	NM_020944.3(GBA2):c.1554G>T (p.Arg518=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2955768	NM_020944.3(GBA2):c.841G>A (p.Glu281Lys)	GBA2 (E281K)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2920079	NM_020944.3(GBA2):c.1761G>A (p.Arg587=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2906071	NM_020944.3(GBA2):c.1239C>T (p.Asp413=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2901350	NM_020944.3(GBA2):c.1539C>T (p.Leu513=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2865593	NM_020944.3(GBA2):c.1688-10T>C	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2862943	NM_020944.3(GBA2):c.2313+16G>C	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2855311	NM_020944.3(GBA2):c.909G>T (p.Gly303=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2854918	NM_020944.3(GBA2):c.2506-14A>G	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2854917	NM_020944.3(GBA2):c.873G>A (p.Met291Ile)	GBA2 (M291I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2851761	NM_020944.3(GBA2):c.1027-18T>A	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2844219	NM_020944.3(GBA2):c.1947+15T>C	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2833690	NM_020944.3(GBA2):c.1680T>G (p.Tyr560Ter)	GBA2 (Y560*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2764752	NM_020944.3(GBA2):c.2229G>C (p.Arg743=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2741203	NM_020944.3(GBA2):c.2388G>A (p.Gly796=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2737760	NM_020944.3(GBA2):c.414C>T (p.Ile138=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2735568	NM_020944.3(GBA2):c.587G>A (p.Arg196Gln)	GBA2 (R196Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2730218	NM_020944.3(GBA2):c.1111C>T (p.Gln371Ter)	GBA2 (Q371*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2723853	NM_020944.3(GBA2):c.2055-12G>A	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2720645	NM_020944.3(GBA2):c.2673A>G (p.Gln891=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2718448	NM_020944.3(GBA2):c.2197+9G>A	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2717745	NM_020944.3(GBA2):c.1410-11T>C	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2712536	NM_020944.3(GBA2):c.2635C>T (p.Arg879Trp)	GBA2 (R879W)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2712516	NM_020944.3(GBA2):c.2718C>T (p.Gly906=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2712243	NM_020944.3(GBA2):c.1227A>T (p.Ser409=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2710729	NM_020944.3(GBA2):c.1713G>A (p.Leu571=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659184	NM_020944.3(GBA2):c.1356C>T (p.Tyr452=)	GBA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2627875	NM_020944.3(GBA2):c.2330A>C (p.His777Pro)	GBA2 (H777P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
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 2610309	NM_020944.3(GBA2):c.1541G>A (p.Arg514His)	GBA2 (R514H)	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 2585505	NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)	GBA2 (R873C)	Single nucleotide variant (3 prime UTR variant +1 more)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 2579060	NM_020944.3(GBA2):c.1485G>A (p.Leu495=)	GBA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574041	NM_020944.3(GBA2):c.715dup (p.Tyr239fs)	GBA2 (Y239fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 46 +1 more	GLikely pathogenic
Select item 2572509	NM_020944.3(GBA2):c.1602C>A (p.Tyr534Ter)	GBA2 (Y534*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46	GPathogenic
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 2501909	NM_020944.3(GBA2):c.1195C>T (p.Arg399Ter)	GBA2 (R399*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2440428	NM_020944.3(GBA2):c.2608C>T (p.Arg870Ter)	GBA2 (R870*)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46	GLikely pathogenic
Select item 2432076	NM_020944.3(GBA2):c.1507C>T (p.Pro503Ser)	GBA2 (P503S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46	GUncertain significance
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	MYORG, OR13J1 +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 2420252	NM_020944.3(GBA2):c.1789G>T (p.Asp597Tyr)	GBA2 (D597Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2416458	NM_020944.3(GBA2):c.1283+20G>A	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
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 2386704	NM_020944.3(GBA2):c.1663G>C (p.Glu555Gln)	GBA2 (E555Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2328771	NM_020944.3(GBA2):c.1718G>A (p.Arg573Gln)	GBA2 (R573Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2307564	NM_020944.3(GBA2):c.1208A>G (p.Gln403Arg)	GBA2 (Q403R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2306998	NM_020944.3(GBA2):c.333G>A (p.Met111Ile)	GBA2 (M111I)	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 2202652	NM_020944.3(GBA2):c.801T>A (p.Pro267=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2199707	NM_020944.3(GBA2):c.1399T>C (p.Leu467=)	GBA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2186487	NM_020944.3(GBA2):c.331A>G (p.Met111Val)	GBA2 (M111V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2181334	NM_020944.3(GBA2):c.2735G>A (p.Gly912Glu)	GBA2 (G912E)	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2173795	NM_020944.3(GBA2):c.1361_1362del (p.Glu454fs)	GBA2 (E454fs)	Microsatellite (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2168195	NM_020944.3(GBA2):c.2481G>A (p.Gly827=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2167799	NM_020944.3(GBA2):c.1795+12C>T	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2167724	NM_020944.3(GBA2):c.72G>A (p.Glu24=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2163638	NM_020944.3(GBA2):c.2159G>T (p.Ser720Ile)	GBA2 (S720I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2161731	NM_020944.3(GBA2):c.360-19A>G	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2160325	NM_020944.3(GBA2):c.2240G>A (p.Arg747His)	GBA2 (R747H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2150017	NM_020944.3(GBA2):c.496T>C (p.Trp166Arg)	GBA2 (W166R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2142478	NM_020944.3(GBA2):c.2166C>A (p.Gly722=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2139208	NM_020944.3(GBA2):c.1130-15_1130-14del	GBA2	Deletion (intron variant)	Spastic paraplegia	GLikely benign
Select item 2136508	NM_020944.3(GBA2):c.642C>T (p.Leu214=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2130083	NM_020944.3(GBA2):c.2598C>T (p.Tyr866=)	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2126684	NM_020944.3(GBA2):c.2274G>A (p.Trp758Ter)	GBA2 (W758*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2113931	NM_020944.3(GBA2):c.1553G>A (p.Arg518Gln)	GBA2 (R518Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2107826	NM_020944.3(GBA2):c.90C>T (p.Cys30=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2100810	NM_020944.3(GBA2):c.2055-3C>A	GBA2	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2096871	NM_020944.3(GBA2):c.19G>A (p.Gly7Arg)	GBA2 (G7R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2095111	NM_020944.3(GBA2):c.969C>T (p.Leu323=)	GBA2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign

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