ClinVar for Gene (Select 22930) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365918	NM_012233.3(RAB3GAP1):c.2671G>A (p.Gly891Ser)	RAB3GAP1 (G891S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360628	NM_012233.3(RAB3GAP1):c.92A>C (p.Glu31Ala)	RAB3GAP1 (E31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359801	NM_012233.3(RAB3GAP1):c.859C>T (p.His287Tyr)	RAB3GAP1 (H287Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354745	NM_012233.3(RAB3GAP1):c.984C>T (p.Val328=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	RAB3GAP1-related disorder	GLikely benign
Select item 3339899	NM_012233.3(RAB3GAP1):c.75-8_75-2del	RAB3GAP1	Deletion (splice acceptor variant)	not specified	GUncertain significance
Select item 3312162	NM_012233.3(RAB3GAP1):c.10G>C (p.Asp4His)	RAB3GAP1 (D4H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312161	NM_012233.3(RAB3GAP1):c.2437T>G (p.Ser813Ala)	RAB3GAP1 (S813A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312160	NM_012233.3(RAB3GAP1):c.2809C>T (p.Arg937Trp)	RAB3GAP1 (R944W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312158	NM_012233.3(RAB3GAP1):c.2873G>T (p.Arg958Leu)	RAB3GAP1 (R965L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312157	NM_012233.3(RAB3GAP1):c.2266G>A (p.Asp756Asn)	RAB3GAP1 (D756N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312156	NM_012233.3(RAB3GAP1):c.1072G>C (p.Ala358Pro)	RAB3GAP1 (A358P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312155	NM_012233.3(RAB3GAP1):c.2182C>T (p.Arg728Trp)	RAB3GAP1 (R728W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253319	NM_012233.3(RAB3GAP1):c.2279A>G (p.Glu760Gly)	RAB3GAP1 (E760G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247545	NC_000002.11:g.(?_135848548)_(135851283_?)dup	RAB3GAP1	Duplication	not provided	GLikely pathogenic
Select item 3247544	NC_000002.11:g.(?_135907919)_(135926351_?)del	RAB3GAP1	Deletion	not provided	GUncertain significance
Select item 3247543	NC_000002.11:g.(?_135809878)_(135810075_?)del	RAB3GAP1	Deletion	not provided	GPathogenic
Select item 3247542	NC_000002.11:g.(?_135809878)_(135926351_?)del	RAB3GAP1	Deletion	not provided	GPathogenic
Select item 3242259	NM_012233.3(RAB3GAP1):c.2709+1G>T	RAB3GAP1	Single nucleotide variant (splice donor variant)	Martsolf syndrome 2	GPathogenic
Select item 3150733	NM_012233.3(RAB3GAP1):c.2939T>C (p.Phe980Ser)	RAB3GAP1 (F980S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150731	NM_012233.3(RAB3GAP1):c.2419A>G (p.Ile807Val)	RAB3GAP1 (I807V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150730	NM_012233.3(RAB3GAP1):c.2236A>G (p.Ile746Val)	RAB3GAP1 (I746V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3150728	NM_012233.3(RAB3GAP1):c.1634A>G (p.Tyr545Cys)	RAB3GAP1 (Y545C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150726	NM_012233.3(RAB3GAP1):c.1202C>T (p.Pro401Leu)	RAB3GAP1 (P401L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150724	NM_012233.3(RAB3GAP1):c.1010G>T (p.Arg337Leu)	RAB3GAP1 (R337L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065165	NM_012233.3(RAB3GAP1):c.991T>C (p.Phe331Leu)	RAB3GAP1 (F331L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061955	NM_012233.3(RAB3GAP1):c.2710-1G>A	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	Warburg micro syndrome 1	GPathogenic
Select item 3061530	NM_012233.3(RAB3GAP1):c.75-8C>T	RAB3GAP1	Single nucleotide variant (intron variant)	RAB3GAP1-related disorder	GLikely benign
Select item 3057840	NM_012233.3(RAB3GAP1):c.1527G>A (p.Arg509=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	RAB3GAP1-related disorder	GLikely benign
Select item 3041999	NM_012233.3(RAB3GAP1):c.117G>A (p.Leu39=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	RAB3GAP1-related disorder	GLikely benign
Select item 3036168	NM_012233.3(RAB3GAP1):c.*3C>T	RAB3GAP1	Single nucleotide variant (3 prime UTR variant)	RAB3GAP1-related disorder	GLikely benign
Select item 3032597	NM_012233.3(RAB3GAP1):c.*2TCT[1]	RAB3GAP1	Microsatellite (3 prime UTR variant)	RAB3GAP1-related disorder	GLikely benign
Select item 3029719	NM_012233.3(RAB3GAP1):c.649-3T>C	RAB3GAP1	Single nucleotide variant (intron variant)	RAB3GAP1-related disorder	GLikely benign
Select item 3020448	NM_012233.3(RAB3GAP1):c.2290-10C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003010	NM_012233.3(RAB3GAP1):c.1695T>C (p.Asp565=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988086	NM_012233.3(RAB3GAP1):c.1326+9A>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919287	NM_012233.3(RAB3GAP1):c.2290-14T>C	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918889	NM_012233.3(RAB3GAP1):c.19-17C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911772	NM_012233.3(RAB3GAP1):c.153T>C (p.Gly51=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911675	NM_012233.3(RAB3GAP1):c.821A>G (p.Asp274Gly)	RAB3GAP1 (D274G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908547	NM_012233.3(RAB3GAP1):c.2290-1G>C	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2886636	NM_012233.3(RAB3GAP1):c.2649C>T (p.Thr883=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871493	NM_012233.3(RAB3GAP1):c.2061+18A>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870709	NM_012233.3(RAB3GAP1):c.2387-11T>C	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857713	NM_012233.3(RAB3GAP1):c.648+1G>C	RAB3GAP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2856846	NM_012233.3(RAB3GAP1):c.363-12T>A	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843629	NM_012233.3(RAB3GAP1):c.1499+1G>T	RAB3GAP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2840239	NM_012233.3(RAB3GAP1):c.2062-14T>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826030	NM_012233.3(RAB3GAP1):c.1398G>A (p.Met466Ile)	RAB3GAP1 (M466I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820305	NM_012233.3(RAB3GAP1):c.141A>C (p.Pro47=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801956	NM_012233.3(RAB3GAP1):c.1067-4A>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799523	NM_012233.3(RAB3GAP1):c.2301T>C (p.Tyr767=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791384	NM_012233.3(RAB3GAP1):c.588A>G (p.Arg196=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780620	NM_012233.3(RAB3GAP1):c.1067-5del	RAB3GAP1	Deletion (intron variant)	not provided	GBenign
Select item 2762445	NM_012233.3(RAB3GAP1):c.74+15T>A	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740359	NM_012233.3(RAB3GAP1):c.1764C>T (p.Cys588=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731203	NM_012233.3(RAB3GAP1):c.1500-4A>G	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730612	NM_012233.3(RAB3GAP1):c.150+14G>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730455	NM_012233.3(RAB3GAP1):c.1926A>G (p.Glu642=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725548	NM_012233.3(RAB3GAP1):c.748+14G>C	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721413	NM_012233.3(RAB3GAP1):c.1555-8_1555-4del	RAB3GAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2716177	NM_012233.3(RAB3GAP1):c.18+8C>A	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702118	NM_012233.3(RAB3GAP1):c.78T>C (p.Phe26=)	RAB3GAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632820	NM_012233.3(RAB3GAP1):c.1185_1186del (p.Gly396fs)	RAB3GAP1 (G396fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2628349	NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)	RAB3GAP1 (P416fs)	Deletion (frameshift variant)	Warburg micro syndrome 1	GPathogenic
Select item 2627444	NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)	RAB3GAP1 (C181fs)	Duplication (frameshift variant)	Warburg micro syndrome 1	GLikely pathogenic
Select item 2627170	NM_012233.3(RAB3GAP1):c.18+1G>C	RAB3GAP1	Single nucleotide variant (splice donor variant)	RAB3GAP1-related disorder	GLikely pathogenic
Select item 2614696	NM_012233.3(RAB3GAP1):c.1324T>C (p.Tyr442His)	RAB3GAP1 (Y442H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605390	NM_012233.3(RAB3GAP1):c.235C>G (p.Leu79Val)	RAB3GAP1 (L79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583158	NM_012233.3(RAB3GAP1):c.2290-17_2290del	RAB3GAP1	Deletion (splice acceptor variant)	Warburg micro syndrome 1	GLikely pathogenic
Select item 2579267	GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1	RAB3GAP1	Copy number loss	Warburg micro syndrome 1	GUncertain significance
Select item 2574155	NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)	RAB3GAP1 (Y951* +1 more)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 2558325	NM_012233.3(RAB3GAP1):c.2459A>C (p.His820Pro)	RAB3GAP1 (H820P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556731	NM_012233.3(RAB3GAP1):c.2103G>T (p.Trp701Cys)	RAB3GAP1 (W701C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544132	NM_012233.3(RAB3GAP1):c.5C>T (p.Ala2Val)	RAB3GAP1 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540833	NM_012233.3(RAB3GAP1):c.424G>A (p.Glu142Lys)	RAB3GAP1 (E142K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485190	NM_012233.3(RAB3GAP1):c.1091T>C (p.Leu364Ser)	RAB3GAP1 (L364S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481903	NM_012233.3(RAB3GAP1):c.1159G>A (p.Ala387Thr)	RAB3GAP1 (A387T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471201	NM_012233.3(RAB3GAP1):c.1025A>G (p.Asp342Gly)	RAB3GAP1 (D342G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444049	NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs)	RAB3GAP1 (W481fs)	Microsatellite (frameshift variant)	Warburg micro syndrome 1	GPathogenic
Select item 2438030	NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)	RAB3GAP1 (R392*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2435352	NM_012233.3(RAB3GAP1):c.2005C>T (p.His669Tyr)	RAB3GAP1 (H669Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432909	NM_012233.3(RAB3GAP1):c.2121T>G (p.Tyr707Ter)	RAB3GAP1 (Y707*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2427810	NM_012233.3(RAB3GAP1):c.671C>T (p.Pro224Leu)	RAB3GAP1 (P224L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425782	NC_000002.11:g.(?_135920105)_(135920691_?)del	RAB3GAP1	Deletion	not provided	GPathogenic
Select item 2424679	NC_000002.11:g.(?_135809878)_(136875630_?)del	CXCR4, DARS1 +7 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2420524	NM_012233.3(RAB3GAP1):c.1923+11C>T	RAB3GAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416881	NM_012233.3(RAB3GAP1):c.527T>C (p.Met176Thr)	RAB3GAP1 (M176T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412768	NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)	RAB3GAP1 (L798fs)	Microsatellite (frameshift variant)	Warburg micro syndrome 1	GLikely pathogenic
Select item 2410384	NM_012233.3(RAB3GAP1):c.512A>G (p.His171Arg)	RAB3GAP1 (H171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407857	NM_012233.3(RAB3GAP1):c.2837C>T (p.Pro946Leu)	RAB3GAP1 (P953L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407468	NM_012233.3(RAB3GAP1):c.737A>G (p.Gln246Arg)	RAB3GAP1 (Q246R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370420	NM_012233.3(RAB3GAP1):c.2071C>A (p.Pro691Thr)	RAB3GAP1 (P691T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356367	NM_012233.3(RAB3GAP1):c.299C>G (p.Ser100Cys)	RAB3GAP1 (S100C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335758	NM_012233.3(RAB3GAP1):c.1333T>C (p.Tyr445His)	RAB3GAP1 (Y445H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320224	NM_012233.3(RAB3GAP1):c.681T>G (p.Ser227Arg)	RAB3GAP1 (S227R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319474	NM_012233.3(RAB3GAP1):c.611A>G (p.His204Arg)	RAB3GAP1 (H204R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310601	NM_012233.3(RAB3GAP1):c.1813A>G (p.Lys605Glu)	RAB3GAP1 (K605E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277886	NM_012233.3(RAB3GAP1):c.1412A>G (p.His471Arg)	RAB3GAP1 (H471R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273335	NM_012233.3(RAB3GAP1):c.2659A>G (p.Arg887Gly)	RAB3GAP1 (R887G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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