23094[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1244101	NM_015073.3(SIPA1L3):c.-310-272del	SIPA1L3	Deletion (intron variant)	not provided	GBenign
Select item 1245591	NM_015073.3(SIPA1L3):c.-310-168A>G	SIPA1L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2471564	NM_015073.3(SIPA1L3):c.4A>G (p.Thr2Ala)	SIPA1L3 (T2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162445	NM_015073.3(SIPA1L3):c.34G>A (p.Val12Met)	SIPA1L3 (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649780	NM_015073.3(SIPA1L3):c.38A>G (p.Asp13Gly)	SIPA1L3 (D13G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540837	NM_015073.3(SIPA1L3):c.58G>A (p.Ala20Thr)	SIPA1L3 (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1520571	NM_015073.3(SIPA1L3):c.70G>A (p.Asp24Asn)	SIPA1L3 (D24N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 710484	NM_015073.3(SIPA1L3):c.75C>T (p.Val25=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1385780	NM_015073.3(SIPA1L3):c.76C>T (p.Leu26Phe)	SIPA1L3 (L26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055490	NM_015073.3(SIPA1L3):c.80C>G (p.Pro27Arg)	SIPA1L3 (P27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715186	NM_015073.3(SIPA1L3):c.99C>G (p.Asp33Glu)	SIPA1L3 (D33E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2776241	NM_015073.3(SIPA1L3):c.128A>C (p.Asn43Thr)	SIPA1L3 (N43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782055	NM_015073.3(SIPA1L3):c.163GCCACC[6] (p.55AT[6])	SIPA1L3	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2054669	NM_015073.3(SIPA1L3):c.163GCCACC[4] (p.55AT[4])	SIPA1L3	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1659558	NM_015073.3(SIPA1L3):c.163GCCACC[3] (p.55AT[3])	SIPA1L3	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 730103	NM_015073.3(SIPA1L3):c.168C>G (p.Thr56=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359294	NM_015073.3(SIPA1L3):c.172A>C (p.Thr58Pro)	SIPA1L3 (T58P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263929	NM_015073.3(SIPA1L3):c.196C>A (p.Arg66Ser)	SIPA1L3 (R66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761093	NM_015073.3(SIPA1L3):c.213T>A (p.Thr71=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747910	NM_015073.3(SIPA1L3):c.216C>A (p.Pro72=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672761	NM_015073.3(SIPA1L3):c.216C>T (p.Pro72=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3162437	NM_015073.3(SIPA1L3):c.266A>G (p.Lys89Arg)	SIPA1L3 (K89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466150	NM_015073.3(SIPA1L3):c.269G>A (p.Arg90Gln)	SIPA1L3 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162443	NM_015073.3(SIPA1L3):c.328G>A (p.Ala110Thr)	SIPA1L3 (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781448	NM_015073.3(SIPA1L3):c.341C>A (p.Ala114Asp)	SIPA1L3 (A114D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3318620	NM_015073.3(SIPA1L3):c.347C>G (p.Ser116Cys)	SIPA1L3 (S116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2882922	NM_015073.3(SIPA1L3):c.366C>T (p.Asn122=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779987	NM_015073.3(SIPA1L3):c.392C>T (p.Ala131Val)	SIPA1L3 (A131V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3162451	NM_015073.3(SIPA1L3):c.407A>G (p.Lys136Arg)	SIPA1L3 (K136R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162453	NM_015073.3(SIPA1L3):c.409G>A (p.Ala137Thr)	SIPA1L3 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179261	NM_015073.3(SIPA1L3):c.409_410delinsAT (p.Ala137Ile)	SIPA1L3 (A137I)	Indel (missense variant)	not provided	GUncertain significance
Select item 3162454	NM_015073.3(SIPA1L3):c.410C>T (p.Ala137Val)	SIPA1L3 (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162457	NM_015073.3(SIPA1L3):c.419G>C (p.Arg140Pro)	SIPA1L3 (R140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614285	NM_015073.3(SIPA1L3):c.428G>A (p.Arg143Lys)	SIPA1L3 (R143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221267	NM_015073.3(SIPA1L3):c.442G>T (p.Asp148Tyr)	SIPA1L3 (D148Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247499	NM_015073.3(SIPA1L3):c.445G>C (p.Val149Leu)	SIPA1L3 (V149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318135	NM_015073.3(SIPA1L3):c.460G>A (p.Gly154Arg)	SIPA1L3 (G154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618810	NM_015073.3(SIPA1L3):c.473C>T (p.Ser158Phe)	SIPA1L3 (S158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737138	NM_015073.3(SIPA1L3):c.473C>G (p.Ser158Cys)	SIPA1L3 (S158C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2754972	NM_015073.3(SIPA1L3):c.501G>C (p.Arg167=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267277	NM_015073.3(SIPA1L3):c.518A>C (p.Glu173Ala)	SIPA1L3 (E173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2068612	NM_015073.3(SIPA1L3):c.542C>T (p.Ala181Val)	SIPA1L3 (A181V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2266760	NM_015073.3(SIPA1L3):c.553G>A (p.Gly185Arg)	SIPA1L3 (G185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727151	NM_015073.3(SIPA1L3):c.569C>G (p.Ala190Gly)	SIPA1L3 (A190G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2750757	NM_015073.3(SIPA1L3):c.572G>A (p.Arg191Gln)	SIPA1L3 (R191Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2309856	NM_015073.3(SIPA1L3):c.628G>A (p.Val210Met)	SIPA1L3 (V210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618367	NM_015073.3(SIPA1L3):c.629T>C (p.Val210Ala)	SIPA1L3 (V210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2848628	NM_015073.3(SIPA1L3):c.642C>G (p.Pro214=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140462	NM_015073.3(SIPA1L3):c.676C>T (p.Arg226Cys)	SIPA1L3 (R226C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479038	NM_015073.3(SIPA1L3):c.677G>A (p.Arg226His)	SIPA1L3 (R226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2006463	NM_015073.3(SIPA1L3):c.680G>T (p.Ser227Ile)	SIPA1L3 (S227I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227275	NM_015073.3(SIPA1L3):c.689C>T (p.Pro230Leu)	SIPA1L3 (P230L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2515118	NM_015073.3(SIPA1L3):c.707A>G (p.Gln236Arg)	SIPA1L3 (Q236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3005663	NM_015073.3(SIPA1L3):c.749T>A (p.Leu250His)	SIPA1L3 (L250H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257457	NM_015073.3(SIPA1L3):c.750C>T (p.Leu250=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649781	NM_015073.3(SIPA1L3):c.751A>T (p.Met251Leu)	SIPA1L3 (M251L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368132	NM_015073.3(SIPA1L3):c.759CGG[4] (p.Gly256dup)	SIPA1L3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2280205	NM_015073.3(SIPA1L3):c.775G>C (p.Gly259Arg)	SIPA1L3 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162461	NM_015073.3(SIPA1L3):c.779A>T (p.Asp260Val)	SIPA1L3 (D260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599055	NM_015073.3(SIPA1L3):c.782C>T (p.Ser261Phe)	SIPA1L3 (S261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1657905	NM_015073.3(SIPA1L3):c.788A>G (p.Asn263Ser)	SIPA1L3 (N263S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598933	NM_015073.3(SIPA1L3):c.820C>G (p.Leu274Val)	SIPA1L3 (L274V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2067572	NM_015073.3(SIPA1L3):c.831G>A (p.Thr277=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 682036	NM_015073.3(SIPA1L3):c.848C>T (p.Ala283Val)	SIPA1L3 (A283V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1317921	NM_015073.3(SIPA1L3):c.863C>T (p.Ala288Val)	SIPA1L3 (A288V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2473670	NM_015073.3(SIPA1L3):c.871C>T (p.Leu291Phe)	SIPA1L3 (L291F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162462	NM_015073.3(SIPA1L3):c.875G>A (p.Gly292Asp)	SIPA1L3 (G292D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1941957	NM_015073.3(SIPA1L3):c.891G>A (p.Val297=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365956	NM_015073.3(SIPA1L3):c.907C>G (p.Arg303Gly)	SIPA1L3 (R303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162463	NM_015073.3(SIPA1L3):c.919A>C (p.Ser307Arg)	SIPA1L3 (S307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 677235	NM_015073.3(SIPA1L3):c.934G>T (p.Gly312Trp)	SIPA1L3 (G312W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 677185	NM_015073.3(SIPA1L3):c.944G>C (p.Gly315Ala)	SIPA1L3 (G315A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1032651	NM_015073.3(SIPA1L3):c.947G>A (p.Arg316His)	SIPA1L3 (R316H)	Single nucleotide variant (missense variant)	Cataract 45	GUncertain significance
Select item 2697640	NM_015073.3(SIPA1L3):c.953C>T (p.Pro318Leu)	SIPA1L3 (P318L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2719842	NM_015073.3(SIPA1L3):c.974G>A (p.Arg325Gln)	SIPA1L3 (R325Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325229	NM_015073.3(SIPA1L3):c.986A>C (p.Glu329Ala)	SIPA1L3 (E329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318619	NM_015073.3(SIPA1L3):c.998C>T (p.Pro333Leu)	SIPA1L3 (P333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3019175	NM_015073.3(SIPA1L3):c.999G>A (p.Pro333=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744419	NM_015073.3(SIPA1L3):c.1005G>A (p.Val335=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1665395	NM_015073.3(SIPA1L3):c.1062G>C (p.Glu354Asp)	SIPA1L3 (E354D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2409350	NM_015073.3(SIPA1L3):c.1064C>T (p.Ala355Val)	SIPA1L3 (A355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2889654	NM_015073.3(SIPA1L3):c.1081T>C (p.Ser361Pro)	SIPA1L3 (S361P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3162428	NM_015073.3(SIPA1L3):c.1091A>C (p.Gln364Pro)	SIPA1L3 (Q364P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524220	NM_015073.3(SIPA1L3):c.1093C>T (p.Arg365Trp)	SIPA1L3 (R365W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342285	NM_015073.3(SIPA1L3):c.1105A>T (p.Thr369Ser)	SIPA1L3 (T369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067458	NM_015073.3(SIPA1L3):c.1123_1140dup (p.Ala380_Met381insAlaSerAlaAlaSerAla)	SIPA1L3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 748780	NM_015073.3(SIPA1L3):c.1128C>T (p.Ser376=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458627	NM_015073.3(SIPA1L3):c.1129G>A (p.Ala377Thr)	SIPA1L3 (A377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265491	NM_015073.3(SIPA1L3):c.1142T>C (p.Met381Thr)	SIPA1L3 (M381T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 669278	NM_015073.3(SIPA1L3):c.1152C>G (p.Leu384=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777528	NM_015073.3(SIPA1L3):c.1161G>A (p.Ser387=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463187	NM_015073.3(SIPA1L3):c.1177G>A (p.Gly393Arg)	SIPA1L3 (G393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206028	NM_015073.3(SIPA1L3):c.1180G>A (p.Gly394Ser)	SIPA1L3 (G394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2914801	NM_015073.3(SIPA1L3):c.1199C>T (p.Thr400Ile)	SIPA1L3 (T400I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728691	NM_015073.3(SIPA1L3):c.1245C>T (p.Leu415=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3318618	NM_015073.3(SIPA1L3):c.1303G>A (p.Gly435Arg)	SIPA1L3 (G435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2168824	NM_015073.3(SIPA1L3):c.1309G>A (p.Glu437Lys)	SIPA1L3 (E437K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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