ClinVar for Gene (Select 25782) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247714	NC_000001.10:g.(?_220345211)_(220375736_?)dup	RAB3GAP2	Duplication	Martsolf syndrome +1 more	GLikely pathogenic
Select item 3247713	NC_000001.10:g.(?_220088791)_(220445679_?)dup	BPNT1, EPRS1 +5 more	Duplication	Martsolf syndrome +1 more	GUncertain significance
Select item 3234473	NM_012414.4(RAB3GAP2):c.449G>A (p.Arg150His)	RAB3GAP2 (R150H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3150755	NM_012414.4(RAB3GAP2):c.620A>C (p.Glu207Ala)	RAB3GAP2 (E207A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150754	NM_012414.4(RAB3GAP2):c.601G>A (p.Val201Met)	RAB3GAP2 (V201M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150752	NM_012414.4(RAB3GAP2):c.3772G>T (p.Asp1258Tyr)	RAB3GAP2 (D1258Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150751	NM_012414.4(RAB3GAP2):c.3724A>G (p.Thr1242Ala)	RAB3GAP2 (T1242A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150750	NM_012414.4(RAB3GAP2):c.352G>A (p.Val118Ile)	RAB3GAP2 (V118I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150748	NM_012414.4(RAB3GAP2):c.3367C>T (p.Pro1123Ser)	RAB3GAP2 (P1123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150747	NM_012414.4(RAB3GAP2):c.3331A>G (p.Met1111Val)	RAB3GAP2 (M1111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150746	NM_012414.4(RAB3GAP2):c.2916A>C (p.Lys972Asn)	RAB3GAP2 (K972N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150745	NM_012414.4(RAB3GAP2):c.2809G>A (p.Gly937Ser)	RAB3GAP2 (G937S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150744	NM_012414.4(RAB3GAP2):c.2639C>A (p.Ser880Tyr)	RAB3GAP2 (S880Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150742	NM_012414.4(RAB3GAP2):c.2203G>A (p.Val735Met)	RAB3GAP2 (V735M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150740	NM_012414.4(RAB3GAP2):c.1918C>G (p.Leu640Val)	RAB3GAP2 (L640V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150739	NM_012414.4(RAB3GAP2):c.1834A>G (p.Ile612Val)	RAB3GAP2 (I612V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150738	NM_012414.4(RAB3GAP2):c.1184G>A (p.Cys395Tyr)	RAB3GAP2 (C395Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150737	NM_012414.4(RAB3GAP2):c.1166G>A (p.Ser389Asn)	RAB3GAP2 (S389N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150736	NM_012414.4(RAB3GAP2):c.1114A>T (p.Thr372Ser)	RAB3GAP2 (T372S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3069073	NM_012414.4(RAB3GAP2):c.2207C>T (p.Ala736Val)	RAB3GAP2 (A736V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065738	NM_012414.4(RAB3GAP2):c.3645+1del	RAB3GAP2	Deletion (splice donor variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 3029930	NM_012414.4(RAB3GAP2):c.1584G>A (p.Val528=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	RAB3GAP2-related disorder	GLikely benign
Select item 3029641	NM_012414.4(RAB3GAP2):c.1231T>C (p.Leu411=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	RAB3GAP2-related disorder	GLikely benign
Select item 3029288	NM_012414.4(RAB3GAP2):c.2607A>G (p.Ser869=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	RAB3GAP2-related disorder	GLikely benign
Select item 2953872	NM_012414.4(RAB3GAP2):c.1870+8G>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2953297	NM_012414.4(RAB3GAP2):c.1631+16T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2952909	NM_012414.4(RAB3GAP2):c.305-6T>A	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2952637	NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)	RAB3GAP2 (M1205fs)	Deletion (frameshift variant)	Martsolf syndrome +1 more	GPathogenic
Select item 2951925	NM_012414.4(RAB3GAP2):c.3257G>T (p.Arg1086Leu)	RAB3GAP2 (R1086L)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2951662	NM_012414.4(RAB3GAP2):c.24C>T (p.Phe8=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2950201	NM_012414.4(RAB3GAP2):c.3198T>C (p.Phe1066=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2950120	NM_012414.4(RAB3GAP2):c.3558A>G (p.Gly1186=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +2 more	GLikely benign
Select item 2949493	NM_012414.4(RAB3GAP2):c.1779+16A>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2948154	NM_012414.4(RAB3GAP2):c.1631+10G>A	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2946965	NM_012414.4(RAB3GAP2):c.4164A>C (p.Ile1388=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2946580	NM_012414.4(RAB3GAP2):c.3942T>C (p.His1314=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2946390	NM_012414.4(RAB3GAP2):c.960+16A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2946378	NM_012414.4(RAB3GAP2):c.613-17T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2946105	NM_012414.4(RAB3GAP2):c.3555+16del	RAB3GAP2	Deletion (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2946025	NM_012414.4(RAB3GAP2):c.1927C>T (p.Leu643=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2945467	NM_012414.4(RAB3GAP2):c.1715-1G>A	RAB3GAP2	Single nucleotide variant (splice acceptor variant)	Martsolf syndrome +1 more	GLikely pathogenic
Select item 2945314	NM_012414.4(RAB3GAP2):c.3744A>G (p.Lys1248=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2945185	NM_012414.4(RAB3GAP2):c.1779+11A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2940927	NM_012414.4(RAB3GAP2):c.2546C>T (p.Ala849Val)	RAB3GAP2 (A849V)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2940590	NM_012414.4(RAB3GAP2):c.2163G>T (p.Lys721Asn)	RAB3GAP2 (K721N)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2939881	NM_012414.4(RAB3GAP2):c.462C>A (p.Thr154=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2937885	NM_012414.4(RAB3GAP2):c.2220C>A (p.Phe740Leu)	RAB3GAP2 (F740L)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2937884	NM_012414.4(RAB3GAP2):c.3145G>A (p.Val1049Ile)	RAB3GAP2 (V1049I)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2936571	NM_012414.4(RAB3GAP2):c.180+18T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2936216	NM_012414.4(RAB3GAP2):c.115+12T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2933804	NM_012414.4(RAB3GAP2):c.3945G>A (p.Ala1315=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +2 more	GLikely benign
Select item 2932400	NM_012414.4(RAB3GAP2):c.2721G>A (p.Gly907=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2932370	NM_012414.4(RAB3GAP2):c.811+17C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2931937	NM_012414.4(RAB3GAP2):c.510+17A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2931903	NM_012414.4(RAB3GAP2):c.1995T>C (p.Asp665=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2931793	NM_012414.4(RAB3GAP2):c.3186A>G (p.Leu1062=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2931720	NM_012414.4(RAB3GAP2):c.29A>G (p.Tyr10Cys)	RAB3GAP2 (Y10C)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2930795	NM_012414.4(RAB3GAP2):c.304+19T>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2930792	NM_012414.4(RAB3GAP2):c.3152A>G (p.Asn1051Ser)	RAB3GAP2 (N1051S)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2930528	NM_012414.4(RAB3GAP2):c.960+17T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2929929	NM_012414.4(RAB3GAP2):c.1884T>C (p.Val628=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2929443	NM_012414.4(RAB3GAP2):c.305-16A>T	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2929392	NM_012414.4(RAB3GAP2):c.3155-8C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2927497	NM_012414.4(RAB3GAP2):c.2832G>A (p.Lys944=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2926757	NM_012414.4(RAB3GAP2):c.1076A>C (p.Glu359Ala)	RAB3GAP2 (E359A)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 2926143	NM_012414.4(RAB3GAP2):c.3868-18C>T	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2926007	NM_012414.4(RAB3GAP2):c.546G>A (p.Glu182=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2924807	NM_012414.4(RAB3GAP2):c.712+18A>T	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2924601	NM_012414.4(RAB3GAP2):c.4026+7A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2924285	NM_012414.4(RAB3GAP2):c.2946A>G (p.Val982=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +2 more	GLikely benign
Select item 2924218	NM_012414.4(RAB3GAP2):c.3262-4dup	RAB3GAP2	Duplication (intron variant)	Warburg micro syndrome 2 +1 more	GBenign
Select item 2924066	NM_012414.4(RAB3GAP2):c.4113A>G (p.Lys1371=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2923941	NM_012414.4(RAB3GAP2):c.4027-15G>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2923749	NM_012414.4(RAB3GAP2):c.517G>A (p.Val173Met)	RAB3GAP2 (V173M)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2923335	NM_012414.4(RAB3GAP2):c.1761C>T (p.Tyr587=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2923104	NM_012414.4(RAB3GAP2):c.4026+12A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2922907	NM_012414.4(RAB3GAP2):c.4038C>T (p.Asp1346=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2922650	NM_012414.4(RAB3GAP2):c.3088-9G>A	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2922613	NM_012414.4(RAB3GAP2):c.933A>G (p.Pro311=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2922472	NM_012414.4(RAB3GAP2):c.435-15T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2921941	NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)	RAB3GAP2 (M114fs)	Deletion (frameshift variant)	Warburg micro syndrome 2 +1 more	GPathogenic
Select item 2689854	NM_012414.4(RAB3GAP2):c.218_219delinsAT (p.Ser73Tyr)	RAB3GAP2 (S73Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 2639911	NM_012414.4(RAB3GAP2):c.3081T>C (p.Asp1027=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639910	NM_012414.4(RAB3GAP2):c.3246T>C (p.Asp1082=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636344	NM_012414.4(RAB3GAP2):c.2091dup (p.Val698fs)	RAB3GAP2 (V698fs)	Duplication (frameshift variant)	RAB3GAP2-related disorder	GLikely pathogenic
Select item 2628350	NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)	RAB3GAP2 (Q789fs)	Indel (frameshift variant)	Warburg micro syndrome 2	GPathogenic
Select item 2622934	NM_012414.4(RAB3GAP2):c.206C>T (p.Thr69Ile)	RAB3GAP2 (T69I)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +2 more	GUncertain significance
Select item 2599571	NM_012414.4(RAB3GAP2):c.3379A>G (p.Thr1127Ala)	RAB3GAP2 (T1127A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541327	NM_012414.4(RAB3GAP2):c.1181C>T (p.Pro394Leu)	RAB3GAP2 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528859	NM_012414.4(RAB3GAP2):c.1115C>T (p.Thr372Ile)	RAB3GAP2 (T372I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519764	NM_012414.4(RAB3GAP2):c.3884A>G (p.His1295Arg)	RAB3GAP2 (H1295R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488097	NM_012414.4(RAB3GAP2):c.1988T>G (p.Phe663Cys)	RAB3GAP2 (F663C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486993	NM_012414.4(RAB3GAP2):c.665T>C (p.Phe222Ser)	RAB3GAP2 (F222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443461	NM_012414.4(RAB3GAP2):c.2807-8A>G	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2432918	NM_012414.4(RAB3GAP2):c.3249del (p.Arg1083fs)	RAB3GAP2 (R1083fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2432913	NM_012414.4(RAB3GAP2):c.713-2A>C	RAB3GAP2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2431759	NM_012414.4(RAB3GAP2):c.1040+1G>T	RAB3GAP2	Single nucleotide variant (splice donor variant)	Warburg micro syndrome 2	GLikely pathogenic
Select item 2428825	NM_012414.4(RAB3GAP2):c.2005G>T (p.Ala669Ser)	RAB3GAP2 (A669S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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